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-M	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	0/1:33,53:86:99:1551,0,747	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	0/1:45,74:119:99:1967,0,948	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	0/1:73,116:189:99:2909,0,1574	17	0	2	0
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.05263	8136.83	130	chr1	7830093	.	C	T	8136.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=2287;ExcessHet=0.119;FS=1.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:182,169:351:99:4391,0,4815	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|1:164,100:264:99:0|1:10326244_G_C:2428,0,5370:10326244	7	0	12	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y,MASP2:NM_139208:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	275880	not_specified|Immunodeficiency_due_to_MASP-2_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	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	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007634	0.05263	1092.83	34	chr1	11045485	.	C	T	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=733;ExcessHet=0.119;FS=0.693;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.21;SOR=0.786	GT:AD:DP:GQ:PL	0/1:42,30:72:99:655,0,1102	17	0	2	0
chr1	11655947	11655947	C	T	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.C112T:p.R38W,FBXO44:NM_001330355:exon2:c.C112T:p.R38W,FBXO44:NM_033182:exon2:c.C112T:p.R38W,FBXO44:NM_183412:exon2:c.C112T:p.R38W,FBXO44:NM_183413:exon2:c.C112T:p.R38W,FBXO44:NM_001014765:exon3:c.C112T:p.R38W,FBXO44:NM_001304790:exon3:c.C112T:p.R38W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.176488023846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.109437	0.986018	0.40368	D	3.365	0.91266	M	0.61	0.53516	T	-7.18	0.94171	D	0.722	0.74280	-0.1611	0.78644	T	0.350	0.71383	T	10	0.7325462	0.74398	D	0.176488	0.85224	D	0.448	0.74935	0.623	0.75803	0.681924071509	0.67921	0.6210451620248962	0.62037	1.08787694671	0.77347	0.700523674488	0.67218	T	0.294809	0.66748	T	0.132851	0.67639	D	-0.0469458	0.67232	D	0.998124182224274	0.93295	D	0.974702	0.91007	D	0.74224025	0.80421	0.7210193	0.83527	0.74224025	0.80422	0.7210193	0.83528	-11.31	0.81331	D	.	.	0.362	0.72737	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.866366	0.79681	27.2	0.99912524998828878	0.98167	0.88247	0.48090	D	AEFDGBI	0.546597	0.56063	D	0.528205082865934	0.68764	5.262382	0.431742713453166	0.63554	4.591347	0.999996735078686	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.635551	0.53088	0	.	.	5.45	3.48	0.38946	0.050000	0.14004	0.290000	0.16862	0.580000	0.29708	0.896000	0.31333	0.977000	0.30130	0.998000	0.85391	0.4879:0.5121:0.0:0.0	13.863	0.63071	878	0.29785	F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2035.33	37	chr1	11655947	.	C	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=791;ExcessHet=0;FS=2.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.41;MQRankSum=0.941;QD=13.13;ReadPosRankSum=-0.301;SOR=0.542	GT:AD:DP:GQ:PL	0/1:80,75:155:99:2049,0,1949	18	0	1	0
chr1	13198855	13198855	C	T	exonic	PRAMEF13	.	stopgain	PRAMEF13:NM_001291380:exon3:c.G339A:p.W113X	.	983	538	1	0	0	1	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187720908	3.744e-05	3.404e-05	3.589e-05	3.898e-05	0.0006	2.492e-05	2.081e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.108e-05	7.301e-05	0	4.319e-05	3.683e-05	0	9.116e-05	0.0007	1.147e-05	6.18e-06	0.0001	5.076e-05	0	0	0	0	0.0007	0	0	3.822e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.262935	0.64797	24.7	0.98237260034390927	0.39449	0.01579	0.05145	N	AEFI	.	.	.	-0.122519210791451	0.36413	2.104416	-0.519695957106637	0.21619	1.170366	2.21208970121553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	1.14	0.19817	0.332000	0.19494	0.751000	0.21237	0.284000	0.18682	0.136000	0.23442	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	5.624	0.16750	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	.	.	.	.	.	.	.	.	0.07692	1462.52	.	chr1	13198855	.	C	T	1462.52	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-1.754;DP=560;ExcessHet=0;FS=6.106;InbreedingCoeff=1;MLEAC=3;MLEAF=0.115;MQ=42.86;MQRankSum=0.955;QD=26.12;ReadPosRankSum=2.73;SOR=0.075	GT:AD:DP:GQ:PL	1/1:3,53:56:65:1484,65,0	12	1	0	6
chr1	13344565	13344565	C	T	exonic	PRAMEF14	.	stopgain	PRAMEF14:NM_001024661:exon3:c.G339A:p.W113X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	4.11e-06	1.369e-06	1.383e-06	2.69e-05	2.3e-07	9e-08	.	.	0	0	0	2.69e-05	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267198	0.80189	D	0.146035	0.79933	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	5.142169	0.86097	28.8	0.98857389486287572	0.47407	0.02025	0.06077	N	AEFI	0.049034	0.08429	N	-0.0477691145231672	0.39703	2.345583	-0.4159100341951	0.24530	1.343766	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	0.400000	0.20657	0.628000	0.20199	0.301000	0.18947	0.113000	0.23048	0.000000	0.08366	0.023000	0.12082	0.0:1.0:0.0:0.0	6.888	0.23393	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	180.35	37	chr1	13344565	.	C	T	180.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=658;ExcessHet=0;FS=9.031;InbreedingCoeff=0.2173;MLEAC=1;MLEAF=0.026;MQ=27.99;MQRankSum=-0.887;QD=22.54;ReadPosRankSum=0.157;SOR=4.163	GT:AD:DP:GQ:PL	0/1:1,7:8:8:194,0,8	18	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	283.43	44	chr1	15518245	.	C	T	283.43	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.318;DP=1293;ExcessHet=0.119;FS=146.654;InbreedingCoeff=-0.0687;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.683;SOR=9.608	GT:AD:DP:GQ:PL	0/1:116,31:147:41:41,0,2609	17	0	2	0
chr1	15743030	15743030	C	T	exonic	TMEM82	.	nonsynonymous SNV	TMEM82:NM_001013641:exon3:c.C172T:p.R58W	.	416	1064	42	0	0	42	0.0193548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0061	0.0061901	0.0096	0.0015	0.0039	0.0079	0.0198	0.0098	0.0156	0.0159	0.0084863	1312	154602	rs41268336	0.0071	0.0071	0.0066	0.0075	0.0358	0.0069	0.0069	0.0318	0.0302	0.0016	0.0053	0.0304	0.0052	0.0190	0.0358	0.0055	0.0099	0.0128	0.0075	0.0075	0.0068	0.0083	0.0122	0.0072	0.0070	0.0097	0.0088	0.0013	0	0.0095	0.0346	0.0044	0.0179	0.0068	0.0079	0.0076	0.0122	0.076	0.34269	T	0.069	0.43913	T	0.011	0.15914	B	0.004	0.10090	B	0.416818	0.12923	N	0.700302	1	0.08975	N	1.225	0.30651	L	0.76	0.49919	T	-1.83	0.42957	N	0.198	0.21839	-1.0080	0.27541	T	0.068	0.27811	T	10	0.0028403401	0.00045	T	.	.	.	0.023	0.04649	.	.	0.162503812791	0.15892	0.35341392069255745	0.35255	0.0807614276133	0.09089	0.368093073368	0.20558	T	0.004755	0.04164	T	-0.535976	0.00354	T	-0.530993	0.19186	T	0.00778028463944119	0.00091	T	0.629237	0.24427	T	0.04985793	0.08919	0.04880238	0.07325	0.04985793	0.08918	0.04880238	0.07325	-4.335	0.28664	T	.	.	0.105	0.19235	B	.	.	1.933616	0.24560	16.44	0.98000223640494366	0.37468	0.04926	0.10681	N	AEFDBI	0.300197	0.40904	N	-0.899056620431752	0.10864	0.5213339	-0.978936530448902	0.10259	0.5155346	0.999397073029582	0.39470	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.664235	0.64389	0	.	.	4.18	-0.643	0.10906	-1.266000	0.02950	0.229000	0.16167	0.599000	0.40250	0.000000	0.06391	0.866000	0.27540	0.065000	0.16320	0.4184:0.3953:0.0:0.1863	4.422	0.10912	783	0.47268	.	.	.	.	.	rs41268336	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025706	0.000000	0.017711	0.061404	0.000000	0.034483	0.018293	0.026515	0.05263	3804.83	38	chr1	15743030	.	C	T	3804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.71;DP=944;ExcessHet=0.119;FS=2.426;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.79;SOR=0.559	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1647,0,1781	17	0	2	0
chr1	15765096	15765096	G	A	exonic	FBLIM1	.	nonsynonymous SNV	FBLIM1:NM_001024215:exon2:c.G113A:p.R38Q,FBLIM1:NM_001024216:exon3:c.G113A:p.R38Q,FBLIM1:NM_017556:exon3:c.G113A:p.R38Q,FBLIM1:NM_001350151:exon4:c.G113A:p.R38Q	.	405	1087	29	1	0	31	0.014059	.	.	.	1779949	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0021	0.00399361	0.0042	0.0012	0.0014	0.0073	0	0.0026	0.0045	0.0142	0.0037257	576	154602	rs146575757	0.0025	0.0025	0.0021	0.0029	0.0127	0.0024	0.0024	0.0121	0.0119	0.0010	0.0016	0.0096	0.0054	0.0002	0.0125	0.0015	0.0037	0.0127	0.0024	0.0024	0.0022	0.0025	0.0114	0.0022	0.0021	0.0090	0.0081	0.0011	0	0.0027	0.0075	0.0041	9.409e-05	0	0.0024	0.0028	0.0114	0.176	0.25560	T	0.426	0.16086	T	0.018	0.17786	B	0.003	0.11217	B	0.049034	0.23198	N	0.404553	1	0.08975	N	0.9	0.23182	L	0.62	0.62318	T	-1.49	0.46503	N	0.104	0.08925	-1.0223	0.22965	T	0.074	0.29928	T	10	0.0025619268	0.00039	T	.	.	.	0.072	0.21020	.	.	0.477298106951	0.47359	0.09068679261122307	0.09001	0.259966874952	0.28564	0.351580142975	0.18154	T	0.032639	0.22963	T	-0.462007	0.00955	T	-0.425387	0.30461	T	0.00265334127602166	0.00028	T	0.687731	0.32279	T	0.051397223	0.09433	0.025757005	0.00632	0.051397223	0.09433	0.025757005	0.00632	-3.985	0.24965	T	.	.	0.073	0.09094	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.286258	0.16869	12.81	0.98557913723695179	0.42935	0.10035	0.15650	N	AEFDBI	0.084200	0.17062	N	-0.906550316843491	0.10687	0.5119588	-0.812082696519917	0.14204	0.7409243	0.999968288589811	0.48965	0.722319	0.85440	0	0.59043	0.45803	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.84	2.94	0.33188	1.012000	0.29527	0.698000	0.20823	-0.713000	0.03919	0.009000	0.18154	0.001000	0.17328	0.030000	0.13115	0.1801:0.1591:0.4965:0.1643	1.865	0.03002	728	0.54609	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.008772	0.000000	0.008621	0.003049	0.018939	0.02632	1415.33	34	chr1	15765096	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=732;ExcessHet=0;FS=3.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.063;SOR=0.407	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1429,0,965	18	0	1	0
chr1	16138424	16138424	G	A	exonic	EPHA2	.	nonsynonymous SNV	EPHA2:NM_001329090:exon3:c.C668T:p.S223L,EPHA2:NM_004431:exon4:c.C830T:p.S277L	Cataract 6, multiple types, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	278104	not_provided|Cataract_6_multiple_types	MedGen:C3661900|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	0.0422946669567	0.0035	0.000798722	0.0032	0.0006	0.0023	0	0.0019	0.0047	0.0057	0.0016	0.0035122	543	154602	rs35484156	0.0055	0.0055	0.0057	0.0054	0.0067	0.0054	0.0054	0.0066	0.0065	0.0010	0.0014	0.0003	2.519e-05	0.0025	0.0019	0.0067	0.0037	0.0019	0.0030	0.0030	0.0034	0.0026	0.0054	0.0028	0.0027	0.0049	0.0048	0.0013	0	0.0007	0	0.0002	0.0017	0	0.0054	0.0014	0.0014	0.075	0.34444	T	0.158	0.31629	T	0.056	0.22806	B	0.005	0.11217	B	0.150446	0.17986	N	0.468333	0.99995	0.19072	N	1.545	0.39105	L	-0.08	0.63911	T	-2.13	0.48354	N	0.216	0.24135	-1.0071	0.27819	T	0.089	0.34408	T	10	0.007756233	0.00176	T	0.042295	0.60388	D	0.059	0.16972	.	.	0.463873965229	0.46014	0.5229146708421177	0.52214	0.118878650778	0.13383	0.342571347952	0.16823	T	0.310062	0.68205	T	-0.41346	0.01885	T	-0.358721	0.38201	T	0.0134803013482134	0.00246	T	0.720928	0.33404	T	0.18815087	0.40301	0.1282235	0.30853	0.18815087	0.40301	0.1282235	0.30852	-4.787	0.34440	T	.	.	0.074	0.05145	B	.	.	1.319686	0.17239	13.04	0.99444088862765156	0.64921	0.37266	0.25723	N	AEFDGBCI	0.232661	0.35570	N	-0.41429374746204	0.24967	1.35195	-0.385902955012226	0.25416	1.397611	0.999999988338729	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	4.17	0.48303	0.396000	0.20592	2.933000	0.35626	-0.123000	0.13640	0.000000	0.06391	0.998000	0.33993	0.701000	0.34172	0.0:0.1716:0.651:0.1774	8.331	0.31348	412	0.82007	Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1276.33	37	chr1	16138424	.	G	A	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.28;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1290,0,1661	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	0/1:322,197:519:99:.:.:5064,0,9273:.	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	0/1:443,276:719:99:.:.:6239,0,12464:.	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	0/1:559,139:698:99:2251,0,18938	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	0/1:375,131:506:99:.:.:2727,0,12848:.	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	0/1:308,179:487:99:4389,0,9974	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	0/1:682,248:930:99:4754,0,18164	12	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:421,68:489:99:370,0,10918	13	0	6	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	0/1:303,36:339:99:109,0,8210	7	0	12	0
chr1	16581485	16581485	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	1115	25	0	0	25	0.0110865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0003	0.0006	0.0005	0	0.0013	0.0033	0.0068	3.84e-05	1	26028	rs773373678	0.0004	0.0010	0.0003	0.0005	0.0052	0.0004	0.0003	0.0037	0.0032	5.979e-05	0.0002	0.0062	0.0003	0	0.0052	8.099e-05	0.0007	0.0024	0.0004	0.0010	0.0004	0.0005	0.0015	0.0004	0.0003	0.0007	0.0005	2.405e-05	0	0.0003	0.0090	0.0004	0	0.0034	0.0003	0.0009	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	0.014237	0.006494	0.015027	0.017241	0.000000	0.035088	0.010490	0.015748	0.02632	1595.33	567	chr1	16581485	.	G	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=12681;ExcessHet=0;FS=3.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.81;MQRankSum=1.73;QD=2.41;ReadPosRankSum=3.76;SOR=0.584	GT:AD:DP:GQ:PL	0/1:539,122:661:99:1609,0,14014	18	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	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	0/1:79,15:94:99:252,0,2538	1	7	11	0
chr1	17044818	17044818	T	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A143T:p.D48V	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	48183	Paragangliomas_4|Pheochromocytoma|Gastrointestinal_stromal_tumor|not_provided|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Mitochondrial_complex_2_deficiency,_nuclear_type_4|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.917	0.673341883146	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs202101384	1.984e-05	1.984e-05	9.529e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	2.698e-06	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	6.548e-05	2.18e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.888	0.48822	P	0.745	0.55870	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	-5.38	0.99045	D	-5.01	0.82450	D	0.939	0.94550	1.083	0.98981	D	0.972	0.99129	D	10	0.8362266	0.82779	D	0.673342	0.97280	D	0.917	0.97852	0.544	0.65731	0.989186055574	0.98906	0.8680426427243094	0.86769	0.731539961382	0.62749	0.531592726707	0.43259	T	0.913204	0.98382	D	0.34735	0.86329	D	0.565715	0.96020	D	0.934484004974365	0.60200	D	0.993001	0.97720	D	0.92658126	0.93895	0.8971284	0.94772	0.9296118	0.94199	0.89180464	0.94395	-10.556	0.77168	D	0.4116958659517902	0.50192	0.554	0.67915	A	.;.	.;.	5.115164	0.85536	28.6	0.9942255575376906	0.63838	0.97797	0.77204	D	AEFDBI	0.888829	0.82234	D	0.802256886043653	0.86246	8.824348	0.779434746241346	0.88330	9.541495	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.835000	0.70278	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2017.33	52	chr1	17044818	.	T	A	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=1081;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.09;SOR=0.599	GT:AD:DP:GQ:PL	0/1:118,87:205:99:2031,0,2928	18	0	1	0
chr1	21847474	21847474	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon62:c.C8047T:p.R2683W,HSPG2:NM_005529:exon62:c.C8044T:p.R2682W	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	279337	not_specified|Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.102582270378	0.0019	0.000199681	0.0018	0.0004	0.0003	0	0.0024	0.0028	0.0011	0.0004	0.0018176	281	154602	rs142458572	0.0027	0.0027	0.0026	0.0027	0.0135	0.0026	0.0026	0.0111	0.0102	0.0004	0.0007	0.0044	0	0.0018	0.0135	0.0030	0.0029	0.0003	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0027	0.0026	0.0004	0	0.0008	0.0040	0	0.0015	0.0102	0.0031	0.0047	0.0004	0.017	0.51248	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.002521	0.36425	N	0.000000	0.999299	0.46578	D	2.62	0.76659	M	-0.39	0.69158	T	-4.61	0.79060	D	0.834	0.82964	0.177	0.85513	D	0.538	0.82960	D	10	0.14647627	0.27769	T	0.102582	0.77612	D	0.549	0.81310	.	.	0.812045843367	0.81027	0.43439531511610924	0.43356	0.795164481013	0.66010	0.541322946548	0.44632	T	0.550718	0.84783	D	-0.0875025	0.38489	T	0.098796	0.76828	D	0.0298921028318087	0.01973	T	0.90161	0.65783	D	0.25616804	0.48655	0.19854246	0.43692	0.25616804	0.48655	0.19854246	0.43691	-8.79	0.66335	D	.	.	0.178	0.38889	B	.	.	5.194660	0.87129	29.1	0.9988925561517159	0.96359	0.87433	0.46971	D	AEFBCI	0.526241	0.54868	D	0.554004034735775	0.70325	5.485179	0.429565922219069	0.63415	4.574748	0.00419080014304676	0.10449	0.67177	0.52595	0	0.633656	0.55848	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.5	2.4	0.28568	3.152000	0.50375	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:0.5659:0.4341	12.463	0.55083	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.017647	0.000000	0.017241	0.003049	0.000000	0.02632	881.33	36	chr1	21847474	.	G	A	881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=723;ExcessHet=0;FS=7.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.265;SOR=1.547	GT:AD:DP:GQ:PL	0/1:38,36:74:99:895,0,880	18	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:44:99:0|1:26282323_A_*:2037,1287,1238:26282323	14	0	5	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9511.94	43	chr1	26282334	.	TGGGGCCG	*	9511.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.55;DP=897;ExcessHet=0.233;FS=18.578;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.394;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:46:99:0|1:26282323_A_*:2094,1366,1343:26282323	15	0	4	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9447.43	43	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	9447.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.65;DP=928;ExcessHet=0.233;FS=19.632;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.91;MQRankSum=0;QD=18.78;ReadPosRankSum=-1.19;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:46:99:0|1:26282323_A_*:2094,1366,1343:26282323	15	0	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,33:46:99:1|1:26282323_A_*:1663,115,0:26282323	9	4	6	0
chr1	26282444	26282444	C	T	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon11:c.G1058A:p.R353Q,UBXN11:NM_145345:exon15:c.G1319A:p.R440Q,UBXN11:NM_183008:exon16:c.G1418A:p.R473Q	.	348	1172	2	0	0	2	0.000852515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0174437974148	0.0005	0.000798722	0.0005	0.0001	0.0002	0.0004	0	0.0006	0.0011	0.0008	0.0003881	60	154602	rs200674226	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	7.007e-05	0.0009	5.612e-05	0.0002	0.0007	0.0010	0.0006	0.0007	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0001	0.0006	0.0007	9.464e-05	0	0.0004	0.0005	0.0010	0.103	0.33753	T	0.138	0.39492	T	0.062	0.26825	B	0.008	0.18140	B	0.322056	0.14254	N	0.664814	1	0.08975	N	1.345	0.33447	L	2.22	0.18248	T	-1.23	0.33401	N	0.171	0.38232	-1.0224	0.22932	T	0.027	0.11663	T	10	0.010591477	0.00235	T	0.017444	0.39139	T	0.028	0.06331	.	.	0.0920862733494	0.08535	0.2625469754084854	0.26167	0.206375539285	0.23064	0.479744434357	0.36021	T	0.013438	0.23874	T	-0.552108	0.00283	T	-0.658577	0.08363	T	0.00526143282321337	0.00057	T	0.686431	0.29515	T	0.023981681	0.01186	0.033361726	0.02219	0.023981681	0.01186	0.033361726	0.02218	-3.832	0.21283	T	.	.	0.085	0.12560	B	.;.;.;.;.;.	.;.;.;.;.;.	0.453843	0.08239	4.979	0.82152821452285019	0.14045	0.03639	0.08887	N	AEFDBHCI	0.039508	0.05748	N	-1.23483809909766	0.04503	0.2033829	-1.25532124229736	0.05052	0.2398467	0.999998420869673	0.74766	0.650006	0.45971	0	0.606735	0.50208	0	0.519653	0.09787	0	0.636168	0.56350	0	.	.	4.99	0.889	0.18346	-0.127000	0.10524	-0.389000	0.09488	-1.859000	0.00563	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6175:0.1405:0.242	5.578	0.16517	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1193.33	62	chr1	26282444	.	C	T	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=1139;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.589;SOR=1.005	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1207,0,1535	18	0	1	0
chr1	26284470	26284470	G	A	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon7:c.C505T:p.R169C,UBXN11:NM_145345:exon11:c.C766T:p.R256C,UBXN11:NM_183008:exon12:c.C865T:p.R289C	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	.	7.9e-05	0.00519169	0.0017	0.0001	0	0.0229	0	6.161e-05	0	0.0001	0.0015847	245	154602	rs138559558	0.0005	0.0005	0.0005	0.0005	0.0160	0.0005	0.0005	0.0150	0.0145	0.0004	4.617e-05	0.0004	0.0160	0	0.0005	4.717e-05	0.0007	0.0002	0.0009	0.0009	0.0008	0.0009	0.0214	0.0008	0.0007	0.0182	0.0170	0.0002	0	6.532e-05	0.0014	0.0214	0	0	4.41e-05	0	0.0010	0.003	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.058644	0.999953	0.52396	D	3.22	0.89398	M	1.85	0.24472	T	-5.9	0.90254	D	0.794	0.79406	-0.7714	0.56781	T	0.106	0.38611	T	10	0.008171558	0.00185	T	.	.	.	0.368	0.68757	.	.	0.569599524359	0.56625	0.8716997061784545	0.87135	0.853217115918	0.68640	0.499685287476	0.38784	T	0.389526	0.80444	T	-0.245498	0.14657	T	-0.106493	0.62889	T	0.268695537586335	0.23691	T	0.961704	0.85587	D	0.85743666	0.87891	0.6855567	0.81511	0.85743666	0.87893	0.6855567	0.81512	-6.899	0.53292	T	.	.	0.248	0.51832	B	.;.;.;.;.;.	.;.;.;.;.;.	5.985288	0.94262	34	0.99938012597302794	0.99698	0.93924	0.59587	D	AEFDBHCI	0.675966	0.64117	D	0.679233768290586	0.78272	6.838191	0.58716091538518	0.74020	6.066372	0.999999999919107	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	4.6	4.6	0.56512	4.639000	0.61058	9.619000	0.81102	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	13.260	0.59531	404	0.82510	.;SEP domain|SEP domain;.;SEP domain|SEP domain;.;SEP domain|SEP 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	0.003049	0.000000	0.02632	378.33	35	chr1	26284470	.	G	A	378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=606;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.333;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,15:25:99:392,0,245	18	0	1	0
chr1	29200516	29200516	G	A	exonic	MECR	.	nonsynonymous SNV	MECR:NM_001024732:exon7:c.C602T:p.A201V,MECR:NM_001349717:exon7:c.C680T:p.A227V,MECR:NM_016011:exon7:c.C830T:p.A277V,MECR:NM_001349714:exon8:c.C602T:p.A201V,MECR:NM_001349715:exon8:c.C935T:p.A312V,MECR:NM_001349716:exon8:c.C914T:p.A305V,MECR:NM_001349712:exon9:c.C602T:p.A201V,MECR:NM_001349713:exon9:c.C602T:p.A201V,MECR:NM_001349711:exon10:c.C602T:p.A201V	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, Autosomal recessive	426	1073	22	1	0	24	0.0110599	0.9915	0.68	YES	707333	MECR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	0.00365927473957	0.0060	0.00179712	0.0050	0.0012	0.0044	0.0002	0.0009	0.0076	0.0089	0.0011	0.0050905	787	154602	rs148978800	0.0053	0.0053	0.0052	0.0054	0.0134	0.0052	0.0052	0.0110	0.0101	0.0007	0.0050	0.0047	5.043e-05	0.0020	0.0134	0.0060	0.0054	0.0019	0.0043	0.0043	0.0041	0.0044	0.0068	0.0040	0.0039	0.0063	0.0061	0.0011	0	0.0055	0.0043	0	0.0012	0.0136	0.0068	0.0076	0.0023	0.279	0.15665	T	0.28	0.21678	T	0.965	0.56013	D	0.335	0.42239	B	0.022007	0.26719	N	0.436137	0.951477	0.37741	D	2.245	0.63543	M	3.44	0.05375	T	-2.05	0.47008	N	0.325	0.37301	-1.0626	0.11118	T	0.016	0.06711	T	10	0.008695304	0.00197	T	0.003659	0.08433	T	0.129	0.35316	.	.	0.36893422563	0.36505	0.43285098999829047	0.43202	0.332101082199	0.35269	0.527409076691	0.42670	T	0.157764	0.50051	T	-0.509183	0.00507	T	-0.499336	0.22416	T	0.025077138779693	0.01282	T	0.952205	0.81731	D	0.3505237	0.57108	0.29653013	0.55685	0.35769466	0.57660	0.26496005	0.52321	-7.904	0.66138	D	.	.	0.200	0.42520	B	.;.	.;.	4.292476	0.65474	24.8	0.99735820091042626	0.83119	0.88157	0.47962	D	AEFBI	0.551325	0.56344	D	0.535232211720341	0.69190	5.321718	0.572281702077018	0.72959	5.892862	0.999767314863219	0.42728	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.75	0.59954	4.613000	0.60880	7.110000	0.57563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1517:0.7088:0.1395	10.263	0.42620	539	0.73055	.;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase 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	0.009082	0.015152	0.012228	0.000000	0.000000	0.017241	0.015337	0.003788	0.02632	1544.33	41	chr1	29200516	.	G	A	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=758;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.061;SOR=0.551	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1558,0,1113	18	0	1	0
chr1	32207792	32207792	A	C	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.A1351C:p.T451P,IQCC:NM_018134:exon5:c.A1111C:p.T371P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00129447588352	.	.	1.655e-05	0	0	0	0	1.507e-05	0	6.058e-05	1.29e-05	2	154602	rs769391019	4.105e-06	4.104e-06	0	8.251e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.17701	T	1.0	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.037499	0.24396	N	0.298320	1	0.08975	N	-0.75	0.01730	N	2.1	0.20959	T	2.65	0.00200	N	0.063	0.03502	-0.9564	0.39843	T	0.014	0.05705	T	10	0.025769353	0.00761	T	0.001294	0.01784	T	0.025	0.05312	0.361	0.36548	0.0138822411134	0.00435	0.036357816974854615	0.03582	0.0505186833795	0.05550	0.26987400651	0.06125	T	5.81E-4	0.00238	T	-0.403755	0.02188	T	-0.720888	0.04753	T	0.0345128881144507	0.02725	T	0.237176	0.03315	T	0.07096821	0.15677	0.05308882	0.08876	0.07096821	0.15676	0.05308882	0.08875	-1.837	0.02622	T	.	.	0.059	0.01075	B	.;.	.;.	0.502892	0.08720	5.493	0.69268304189853314	0.08918	0.00512	0.02396	N	AEFBCI	0.019914	0.00736	N	-1.47563155134793	0.02023	0.08890538	-1.40782077631289	0.03173	0.1474957	0.999658843862397	0.41424	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	3.88	1.95	0.25130	0.381000	0.20348	1.018000	0.23383	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2289:0.6542:0.0:0.1168	4.602	0.11749	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	891.33	46	chr1	32207792	.	A	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=768;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.081;SOR=0.944	GT:AD:DP:GQ:PL	0/1:46,35:81:99:905,0,1211	18	0	1	0
chr1	32782431	32782431	C	T	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon9:c.G1015A:p.A339T	.	1	1470	50	1	0	52	0.0173797	.	.	.	212087	not_provided|not_specified|Charcot-Marie-Tooth_disease_dominant_intermediate_C	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0005	0.00359425	0.0030	0.0004	0.0010	0	0	0.0010	0.0044	0.0170	0.0026843	415	154602	rs141323599	0.0019	0.0019	0.0015	0.0024	0.0163	0.0019	0.0019	0.0156	0.0154	0.0001	0.0007	3.826e-05	0	1.872e-05	0.0095	0.0011	0.0022	0.0163	0.0012	0.0012	0.0011	0.0014	0.0176	0.0011	0.0010	0.0146	0.0135	0.0002	0	0.0007	0	0.0004	0	0.0136	0.0011	0.0014	0.0176	0.341	0.12673	T	0.404	0.22359	T	0.002	0.09854	B	0.0	0.01387	B	0.022356	0.26651	N	0.454930	0.998439	0.44913	D	1.01	0.25309	L	-0.71	0.72889	T	-0.49	0.15578	N	0.135	0.13198	-0.8569	0.51484	T	0.208	0.56744	T	10	0.0041731894	0.00083	T	.	.	.	0.078	0.22779	.	.	0.7307814426	0.72839	0.24667008812608252	0.24581	0.330966287999	0.35175	0.421475112438	0.28040	T	0.151994	0.49219	T	-0.520911	0.00435	T	-0.507404	0.21583	T	0.00735544030599977	0.00084	T	0.782022	0.54691	T	0.110990934	0.26231	0.056756414	0.10197	0.11410718	0.26942	0.06377726	0.12684	-4.694	0.33331	T	0.08938174651911067	0.05458	0.070	0.03301	B	.;.	.;.	2.461577	0.31708	18.82	0.98406145097364284	0.41126	0.47895	0.28085	N	AEFGBCI	0.208756	0.33481	N	-0.443410377705995	0.23964	1.290636	-0.336812921959971	0.26920	1.490246	0.999557891892919	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635259	0.50027	0	.	.	4.65	3.74	0.42108	0.665000	0.24764	1.068000	0.23780	0.599000	0.40250	0.153000	0.23698	0.508000	0.25241	0.994000	0.71098	0.1465:0.7765:0.0:0.0771	9.054	0.35554	293	0.88320	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009714	0.000000	0.004076	0.011696	0.000000	0.008621	0.019231	0.015152	0.02632	1135.33	33	chr1	32782431	.	C	T	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=704;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.895;SOR=0.824	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1149,0,802	18	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1333	171.76	77	chr1	33864375	.	G	C	171.76	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.921;DP=2276;ExcessHet=0.7564;FS=275.066;InbreedingCoeff=-0.1985;MLEAC=5;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.121;SOR=11.912	GT:AD:DP:GQ:PL	0/1:77,33:110:99:110,0,1682	11	0	4	4
chr1	36087257	36087257	G	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon7:c.G801T:p.K267N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.00359425	0.0012	0.0002	8.66e-05	0.0160	0	0	0.0011	6.057e-05	0.0011449	177	154602	rs142743253	0.0004	0.0004	0.0004	0.0004	0.0123	0.0004	0.0004	0.0114	0.0110	5.974e-05	8.944e-05	0	0.0123	0	0	8.993e-06	0.0012	0.0003	0.0007	0.0007	0.0006	0.0007	0.0160	0.0006	0.0005	0.0132	0.0122	7.214e-05	0	0.0008	0	0.0160	0	0	1.47e-05	0.0009	0.0008	0.267	0.16198	T	0.208	0.26883	T	0.985	0.61118	D	0.732	0.55359	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.43	0.35840	L	4.2	0.02689	T	-3.43	0.67359	D	0.837	0.83269	-0.8374	0.52819	T	0.011	0.04274	T	10	0.014988542	0.00315	T	.	.	.	0.167	0.42761	0.53	0.63707	0.146414634003	0.14194	0.7749512484723448	0.77445	0.437007265989	0.43776	0.584931492805	0.50781	T	0.242045	0.61070	T	-0.540981	0.00330	T	-0.536232	0.18668	T	0.0549278974980987	0.06346	T	0.846115	0.52582	T	0.6611847	0.75962	0.5653674	0.74844	0.6611847	0.75963	0.5653674	0.74844	-4.923	0.35993	T	.	.	0.676	0.71965	P	.	.	3.483717	0.48658	22.7	0.99773203191080362	0.86088	0.93189	0.57558	D	AEFDBHCIJ	0.548362	0.56168	D	0.323715778067004	0.57369	3.903854	0.346026184395238	0.58269	3.996464	0.99999999999821	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.49	4.58	0.56077	2.674000	0.46532	4.000000	0.41065	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1416:0.0:0.8584:0.0	12.266	0.53993	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2270.83	36	chr1	36087257	.	G	T	2270.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=791;ExcessHet=0.119;FS=3.295;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.732;SOR=0.802	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1107,0,1469	17	0	2	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	0/1:63,30:93:31:31,0,1394	13	0	3	3
chr1	41152625	41152625	G	A	exonic	SCMH1	.	nonsynonymous SNV	SCMH1:NM_001031694:exon4:c.C50T:p.P17L	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00752208256858	0.0062	0.00199681	0.0046	0.0010	0.0026	0	0.0011	0.0072	0.0022	0.0018	0.0047283	731	154602	rs114233776	0.0056	0.0056	0.0057	0.0056	0.0106	0.0055	0.0055	0.0085	0.0077	0.0014	0.0039	0.0152	0	0.0016	0.0106	0.0063	0.0063	0.0013	0.0047	0.0047	0.0051	0.0042	0.0061	0.0044	0.0043	0.0056	0.0054	0.0013	0.0614	0.0046	0.0210	0	0.0013	0.0068	0.0061	0.0071	0.0019	0.006	0.61437	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.284347	0.14886	N	0.657827	0.95199	0.81001	D	0.895	0.22405	L	2.35	0.16217	T	-1.41	0.34795	N	0.316	0.35620	-1.0499	0.14425	T	0.020	0.08266	T	10	0.0065268576	0.00148	T	0.007522	0.19952	T	0.103	0.29403	.	.	0.151262610727	0.14761	0.524196079369963	0.52343	.	.	.	.	.	0.191066	0.54579	T	-0.57438	0.00208	T	-0.591294	0.13554	T	0.0137737123849673	0.00259	T	0.607039	0.22875	T	0.0540155	0.10303	0.055556532	0.09769	0.0540155	0.10303	0.055556532	0.09768	-2.188	0.03983	T	.	.	0.176	0.40131	B	.;.	.;.	1.691756	0.21554	15.25	0.99679535803375918	0.79174	0.43174	0.27040	N	AEFDGBHCI	0.084697	0.17166	N	-0.385090706085464	0.26000	1.415642	-0.229706834339178	0.30476	1.716327	0.999999999966236	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.35	2.48	0.29194	0.557000	0.23159	4.315000	0.42981	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.271:0.0:0.729:0.0	7.241	0.25269	429	0.80881	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.010870	0.005848	0.000000	0.008621	0.003049	0.000000	0.05263	2756.83	34	chr1	41152625	.	G	A	2756.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=847;ExcessHet=0.119;FS=6.715;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.194;SOR=0.9	GT:AD:DP:GQ:PL	0/1:72,54:126:99:1235,0,1695	17	0	2	0
chr1	43980021	43980021	G	T	exonic	B4GALT2	.	stopgain	B4GALT2:NM_030587:exon1:c.G10T:p.E4X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.302e-07	6.84e-07	1.442e-06	0	3.339e-05	0	0	.	.	3.339e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0588233	0.43092	T	-0.322272	0.42324	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.856418	0.12288	8.828	0.9511498929860045	0.26206	0.00330	0.01723	N	ALL	0.015780	0.00318	N	-0.100792817931881	0.37359	2.172329	-0.503421278928473	0.22059	1.196346	0.999999999954856	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	3.72	0.156	0.14205	-0.642000	0.05524	0.758000	0.21291	-0.293000	0.06271	0.000000	0.06391	0.326000	0.24349	0.066000	0.16387	0.0:0.2305:0.2199:0.5496	3.479	0.07161	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1216.33	38	chr1	43980021	.	G	T	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=760;ExcessHet=0;FS=4.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.01;SOR=0.351	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1230,0,1435	18	0	1	0
chr1	46512124	46512124	C	T	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon4:c.C779T:p.P260L,DMBX1:NM_172225:exon6:c.C764T:p.P255L	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.328052654912	.	.	2.478e-05	0	0	0	0	4.514e-05	0	0	1.94e-05	3	154602	rs760128987	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	2.521e-05	0	0	0	2.519e-05	5.624e-05	0.0003	2.968e-05	3.311e-05	0	1.972e-05	1.97e-05	1.285e-05	2.692e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.665	0.42610	L	-4.11	0.99016	D	-3.72	0.70793	D	0.789	0.78641	1.093	0.99353	D	0.957	0.98619	D	10	0.8715149	0.86420	D	0.328053	0.91670	D	0.753	0.91541	.	.	0.910276785103	0.90937	0.61497655632864	0.61429	1.13496144327	0.78752	0.865817427635	0.91965	D	0.598922	0.87117	D	0.227484	0.76484	D	0.152634	0.80351	D	0.991712808609009	0.82049	D	0.962404	0.85901	D	0.52124417	0.68331	0.6343979	0.78660	0.52124417	0.68332	0.6343979	0.78661	-8.567	0.65320	D	.	.	0.954	0.89681	P	.;.	.;.	5.363238	0.89935	31	0.99741489189470467	0.83555	0.97647	0.76137	D	AEFDBI	0.923436	0.89992	D	0.624620118193208	0.74736	6.18345	0.597188615174234	0.74737	6.188268	0.999985359111911	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.530356	0.10902	0	.	.	5.02	4.11	0.47350	7.771000	0.84203	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.9202:0.0:0.0798	12.807	0.57003	85	0.96447	.;.	.	.	.	.	.	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	1119.33	38	chr1	46512124	.	C	T	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=772;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.31;SOR=0.616	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1133,0,1509	18	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	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	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.1053	12346.4	33	chr1	47148753	.	C	T	12346.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.19;DP=1681;ExcessHet=0.0101;FS=3.342;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=57.02;MQRankSum=-3.75;QD=17.61;ReadPosRankSum=0.773;SOR=0.964	GT:AD:DP:GQ:PL	0/1:137,122:259:99:3036,0,5317	16	1	2	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|1:13,18:31:99:0|1:50419077_A_T:522,0,354:50419077	16	0	3	0
chr1	64602900	64602900	G	A	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon4:c.G505A:p.D169N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0191452320235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330032943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.02725	T	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.20959	T	0.47	0.03090	N	0.909	0.91047	-0.9973	0.30673	T	0.028	0.11838	T	10	0.35705423	0.52430	T	0.019145	0.41433	T	0.283	0.60100	.	.	0.23798241625	0.23396	0.4461765590387796	0.44535	0.231782148567	0.25732	0.829544782639	0.86492	D	.	.	.	-0.213081	0.18947	T	-0.543852	0.17920	T	0.916333913803101	0.57372	D	0.921908	0.71628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.76596	P	.;.	.;.	3.284325	0.45011	22.0	0.98983499094962291	0.49780	0.98543	0.83909	D	AEFBI	0.859980	0.77776	D	0.408578374498171	0.61892	4.39673	0.534266071106006	0.70310	5.486511	0.999999966162161	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.64	5.64	0.86480	9.326000	0.96402	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.712	0.96093	820	0.40914	VWA 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	762.33	34	chr1	64602900	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.648;DP=715;ExcessHet=0;FS=4.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.508;SOR=0.356	GT:AD:DP:GQ:PL	0/1:50,36:86:99:776,0,1382	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	0/1:64,71:135:99:1997,0,1719	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	0/1:34,54:88:99:1492,0,812	17	0	2	0
chr1	75237051	75237051	C	A	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon9:c.G658T:p.D220Y,SLC44A5:NM_001130058:exon11:c.G676T:p.D226Y,SLC44A5:NM_152697:exon11:c.G676T:p.D226Y,SLC44A5:NM_001320287:exon12:c.G550T:p.D184Y,SLC44A5:NM_001320285:exon13:c.G550T:p.D184Y	.	442	1078	2	0	0	2	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0247362275817	7.7e-05	0.000399361	0.0004	0	0.0012	0	0	0.0004	0.0012	0.0006	0.0003558	55	154602	rs143251034	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	6.009e-05	0.0004	0.0034	0	0	0.0016	7.701e-05	0.0005	0.0006	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0006	0.0037	0	0	0	0.0002	0	0.0008	0.013	0.53900	D	0.022	0.57587	D	0.932	0.51990	P	0.781	0.57337	P	0.201571	0.16586	N	0.650480	0.99781	0.44218	D	2.625	0.76847	M	2.84	0.10771	T	-4.37	0.77061	D	0.553	0.57860	-1.0383	0.17832	T	0.045	0.19397	T	10	0.040184677	0.02566	T	0.024736	0.47726	T	0.107	0.30369	.	.	0.220303561663	0.21668	0.7704132106304784	0.76990	0.899688975086	0.70596	0.345719277859	0.17289	T	0.182961	0.53514	T	-0.410651	0.01967	T	-0.460055	0.26594	T	0.154404863715172	0.17448	T	0.923908	0.72182	D	0.14936629	0.34055	0.12105752	0.29212	0.14936629	0.34055	0.12105752	0.29211	-7.867	0.60325	D	.	.	0.165	0.36315	B	.;.	.;.	2.041966	0.25957	16.95	0.97718165147337765	0.35537	0.76251	0.37383	D	AEFI	0.127777	0.24528	N	-0.259225361680746	0.30736	1.716648	-0.424306492684766	0.24287	1.329089	1.17807052483451E-4	0.05269	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.66	-1.47	0.08312	0.888000	0.27904	-0.546000	0.08555	-0.242000	0.07441	0.994000	0.38300	0.000000	0.08366	0.158000	0.20581	0.1119:0.5164:0.0:0.3717	6.567	0.21713	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.002941	0.000000	0.017241	0.000000	0.000000	0.02632	1046.33	38	chr1	75237051	.	C	A	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.034;DP=753;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.138;SOR=0.911	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1060,0,1326	18	0	1	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|1:25,8:33:29:0|1:77935995_G_C:29,0,766:77935995	17	0	2	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	872.8	78	chr1	85158755	.	A	G	872.8	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.11;DP=1169;ExcessHet=0.7564;FS=87.916;InbreedingCoeff=-0.1339;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=0.078;SOR=8.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,21:60:99:0|1:85158755_A_G:336,0,1116:85158755	14	0	4	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,21:60:99:0|1:85158755_A_G:336,0,1116:85158755	4	0	11	4
chr1	85707790	85707792	CTC	-	exonic	ZNHIT6	.	nonframeshift deletion	ZNHIT6:NM_017953:exon1:c.493_495del:p.E165del,ZNHIT6:NM_001170670:exon2:c.376_378del:p.E126del	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	2.59e-05	4	154602	rs767351231	3.01e-05	3.078e-05	3.131e-05	2.888e-05	0.0007	2.281e-05	2.032e-05	0.0002	0.0001	2.987e-05	0	0	5.038e-05	0	0.0007	2.968e-05	3.311e-05	2.319e-05	6.575e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5683.29	74	chr1	85707789	.	TCTC	T	5683.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=1893;ExcessHet=0;FS=0.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=1.43;SOR=0.736	GT:AD:DP:GQ:PL	0/1:155,147:302:99:5697,0,6024	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|1:79,31:110:99:0|1:99884396_T_C:729,0,2752:99884396	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|1:84,25:109:99:0|1:99884396_T_C:156,0,2909:99884396	11	0	8	0
chr1	102881759	102881759	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon63:c.A4630G:p.I1544V,COL11A1:NM_001190709:exon64:c.A4861G:p.I1621V,COL11A1:NM_001854:exon65:c.A4978G:p.I1660V,COL11A1:NM_080629:exon65:c.A5014G:p.I1672V	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3883471	Autosomal_dominant_nonsyndromic_hearing_loss	MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0135044891398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.096e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.06302	T	0.599	0.08302	T	0.084	0.24799	B	0.054	0.25828	B	0.000686	0.42383	D	0.229019	0.999715	0.49177	D	1.33	0.33268	L	-0.69	0.72678	T	-0.49	0.16393	N	0.22	0.31478	-0.9358	0.43272	T	0.066	0.27191	T	10	0.15531173	0.29276	T	0.013504	0.32951	T	0.121	0.33580	0.612	0.74535	0.456461865991	0.45270	0.278426947402608	0.27755	0.0969139405913	0.10942	0.703980088234	0.67720	T	0.16752	0.51418	T	-0.107752	0.35141	T	-0.392555	0.34253	T	0.156811912244926	0.17633	T	0.889111	0.62070	D	0.048109196	0.08333	0.045482263	0.06130	0.048109196	0.08333	0.045482263	0.06129	-5.356	0.40494	T	0.09421832367199064	0.06282	0.130	0.32226	B	.;.;.;.	.;.;.;.	1.857039	0.23593	16.08	0.86408302633585987	0.16516	0.88994	0.49201	D	AEFBI	0.561912	0.56972	D	-0.76540797496906	0.14218	0.70649	-0.628545186233355	0.18760	1.003653	0.312617100436936	0.19303	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	4.9	-0.92	0.09942	1.230000	0.32214	0.933000	0.22794	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.5068:0.4932	13.829	0.62864	928	0.17405	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	.	.	.	.	.	.	.	.	0.05263	66.35	66	chr1	102881759	.	T	C	66.35	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.976;DP=1125;ExcessHet=0.119;FS=109.747;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.71;SOR=9.095	GT:AD:DP:GQ:PL	0/1:61,25:86:75:75,0,833	17	0	2	0
chr1	103754602	103754602	C	G	exonic	AMY1A;AMY1B;AMY1C	.	nonsynonymous SNV	AMY1B:NM_001008218:exon7:c.C982G:p.L328V,AMY1C:NM_001008219:exon7:c.C982G:p.L328V,AMY1A:NM_001008221:exon7:c.C982G:p.L328V,AMY1C:NM_001346780:exon7:c.C982G:p.L328V,AMY1A:NM_004038:exon7:c.C982G:p.L328V	.	443	1063	16	0	0	16	0.00746965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.039281813151	0.0027	.	0.0049	0.0003	0.0050	0	0.0031	0.0066	0.0078	0.0043	0.003978	615	154602	rs145792361	0.0011	0.0057	0.0011	0.0011	0.0012	0.0010	0.0010	0.0012	0.0012	6.024e-05	0.0005	0.0009	0	0.0005	0.0004	0.0012	0.0007	0.0008	0.0010	0.0039	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0006	0.0009	0	0.0002	0	0.0017	0.0010	0.0011	0.067	0.35918	T	0.242	0.24264	T	.	.	.	.	.	.	0.000150	0.49130	D	0.137929	0.995438	0.42690	D	.	.	.	-4.83	0.98213	D	-2.07	0.47344	N	0.48	0.51494	0.593	0.91806	D	0.839	0.94610	D	8	0.020226866	0.00462	T	0.039282	0.58722	D	0.429	0.73590	.	.	0.231005064126	0.22704	0.27254544875160475	0.27167	1.70893912417	0.90412	0.782489359379	0.79304	T	.	.	.	-0.238403	0.15552	T	-0.155759	0.58731	T	0.0176921575893016	0.00500	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	2.758656	0.36180	20.2	0.97389265314050655	0.33716	0.67488	0.33451	D	AEFI	0.101485	0.20382	N	-0.307651848413631	0.28858	1.595202	-0.391498639649579	0.25250	1.387413	1.91917441314853E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.23	1.27	0.20595	1.161000	0.31384	2.341000	0.32254	0.286000	0.18717	0.984000	0.35821	0.998000	0.33993	0.487000	0.28723	0.0:0.7529:0.0:0.2471	6.921	0.23569	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011194	0.000000	0.017857	0.000000	0.000000	0.035088	0.003817	0.004274	0.02778	1419.72	43	chr1	103754602	.	C	G	1419.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.1;DP=1147;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=44.86;MQRankSum=0.584;QD=2.85;ReadPosRankSum=1.26;SOR=0.641	GT:AD:DP:GQ:PL	0/1:401,98:499:99:1433,0,10532	17	0	1	1
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.02632	1534.33	47	chr1	111477698	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=917;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.028;SOR=0.523	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1548,0,1882	18	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,18:101:79:.:.:79,0,2038:.	5	0	14	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	0/1:96,51:151:99:582,0,1309	3	0	16	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	229.81	92	chr1	117075114	.	A	G	229.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.246;DP=1339;ExcessHet=0.119;FS=95.402;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.02;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:99:0|1:117075112_A_G:152,0,3162:117075112	18	0	1	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	138.8	92	chr1	117075115	.	C	G	138.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.496;DP=1359;ExcessHet=0.119;FS=136.017;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.11;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:99:0|1:117075112_A_G:152,0,3162:117075112	17	0	1	1
chr1	117075116	117075116	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C532G:p.L178V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0213300752184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.291	0.20944	T	0.799	0.44910	P	0.214	0.37471	B	0.218384	0.16197	N	0.458835	1	0.08975	N	2.125	0.59049	M	-2.25	0.87272	D	0.07	0.06138	N	0.069	0.04188	-0.5724	0.65919	T	0.361	0.72292	T	10	0.09302208	0.16428	T	0.02133	0.44082	T	0.284	0.60219	0.102	0.01589	0.727519437982	0.72510	0.0620487696778787	0.06144	0.196730262232	0.22047	0.224589943886	0.01592	T	0.095091	0.39551	T	-0.107936	0.35110	T	-0.392819	0.34220	T	0.144249540598991	0.16636	T	0.655434	0.26547	T	0.03494017	0.04019	0.042891104	0.05214	0.03494017	0.04019	0.042891104	0.05213	-3.482	0.16181	T	.	.	0.062	0.01309	B	.	.	0.157752	0.05486	1.954	0.85876684211171095	0.16168	0.21968	0.21586	N	AEFBI	0.053474	0.09639	N	-0.484094750617409	0.22602	1.207987	-0.596142495220181	0.19592	1.051903	0.324646790490361	0.19420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	2.83	0.32150	0.347000	0.19760	-0.033000	0.12769	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7033:0.1406:0.1561	7.325	0.25724	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	144.43	92	chr1	117075116	.	C	G	144.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.475;DP=1304;ExcessHet=0.119;FS=95.545;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.07;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:117075112_A_G:158,0,3119:117075112	18	0	1	0
chr1	119392173	119392173	G	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_001377472:exon6:c.G664A:p.G222R,HAO2:NM_016527:exon6:c.G835A:p.G279R,HAO2:NM_001005783:exon7:c.G874A:p.G292R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.239796496904	.	.	2.479e-05	0	0	0.0001	0	1.502e-05	0	6.072e-05	1.94e-05	3	154602	rs758234111	3.833e-05	3.831e-05	3.95e-05	3.715e-05	0.0007	3.027e-05	2.721e-05	0.0002	0.0001	0	2.237e-05	0	0	0	0.0007	4.049e-05	3.314e-05	4.641e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	9.657e-05	8.15e-06	5.14e-06	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.675	0.99424	H	-0.84	0.74265	T	-7.69	0.95603	D	0.993	0.99995	0.800	0.94405	D	0.768	0.92111	D	9	0.9927337	0.99809	D	0.239796	0.88646	D	0.756	0.91668	0.979	0.99802	0.94958034063	0.94905	0.9367399852148666	0.93653	0.218347295172	0.24371	0.602894961834	0.53313	T	0.492541	0.81646	T	0.275718	0.80946	D	0.339801	0.89907	D	0.998382210731506	0.93999	D	0.99598	0.98615	D	0.9567155	0.96947	0.94879633	0.98326	0.9567155	0.96948	0.94879633	0.98327	-12.001	0.84856	D	.	.	0.889	0.82060	P	.;.;.	.;.;.	5.629666	0.92664	32	0.99937202081463028	0.99661	0.99011	0.89930	D	AEFBI	0.976065	0.99653	D	1.09164306720376	0.97976	17.15409	0.989132772233748	0.98406	18.19135	0.99999997326207	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	9.447000	0.96759	11.599000	0.93462	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.659	0.99629	772	0.48957	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase 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	1101.33	34	chr1	119392173	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.117;DP=735;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.406;SOR=0.604	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1115,0,1662	18	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	5	1401	110	6	0	122	0.0417237	.	.	.	138711	Hajdu-Cheney_syndrome|not_specified|not_provided	MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019348	0.005155	0.009511	0.011834	0.000000	0.034483	0.050314	0.026718	0.05263	1840.83	33	chr1	119926524	.	T	C	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.794;DP=794;ExcessHet=0.119;FS=1.865;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.194;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,42:90:99:948,0,1054	17	0	2	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1570.43	40	chr1	148123871	.	C	A	1570.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.97;DP=783;ExcessHet=0.7564;FS=2.799;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=34.29;MQRankSum=2.75;QD=8.22;ReadPosRankSum=-0.486;SOR=0.94	GT:AD:DP:GQ:PL	0/1:46,11:57:99:232,0,1389	15	0	4	0
chr1	148586447	148586447	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon8:c.G1114A:p.A372T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296778701	0.0002	0.0005	0.0002	0.0002	0.0022	0.0002	0.0001	0.0018	0.0016	0	6.92e-05	0	0.0022	0.0001	0	7.736e-05	0.0001	0.0003	0.0003	0.0012	0.0002	0.0004	0.0010	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0002	0	0.0010	0.0003	0	0.0003	0	0.0002	.	.	.	0.042	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	3.0	0.09167	T	.	.	.	0.192	0.23884	-0.8850	0.49357	T	0.004	0.01159	T	7	0.006296009	0.00142	T	0.004016	0.09525	T	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.204111	0.20214	T	-0.530968	0.19191	T	0.00704590148008096	0.00080	T	0.488951	0.29211	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40586	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.389825	0.02250	0.231	0.82993575658718322	0.14485	0.00782	0.03209	N	AEFI	.	.	.	-1.82189801946301	0.00494	0.02125184	-1.92386896093946	0.00439	0.01941888	1.52018773964216E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	.	.	.	-0.857000	0.04394	-12.442000	0.00525	-1.609000	0.00882	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3252:0.6748:0.0:0.0	5.322	0.15195	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	.	.	.	.	.	.	.	.	0.05263	92.27	16	chr1	148586447	.	C	T	92.27	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.47;DP=904;ExcessHet=0.119;FS=66.492;InbreedingCoeff=-0.0688;MLEAC=2;MLEAF=0.053;MQ=31.16;MQRankSum=-3.88;QD=1.38;ReadPosRankSum=3.18;SOR=6.357	GT:AD:DP:GQ:PL	0/1:44,7:51:31:31,0,1152	17	0	2	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	461.79	33	chr1	149476000	.	C	A	461.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.29;DP=1346;ExcessHet=0.3672;FS=30.186;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.41;MQRankSum=-2.742;QD=0.93;ReadPosRankSum=-3.924;SOR=5.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,16:210:44:0|1:149476000_C_A:44,0,8035:149476000	16	0	3	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	594.42	33	chr1	149476006	.	G	A	594.42	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.17;DP=1693;ExcessHet=0.7564;FS=21.221;InbreedingCoeff=-0.1173;MLEAC=4;MLEAF=0.105;MQ=33.16;MQRankSum=-2.731;QD=0.8;ReadPosRankSum=-3.525;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,21:224:99:0|1:149476000_C_A:131,0,8250:149476000	15	0	4	0
chr1	151838749	151838749	-	ACAGGTC	exonic	C2CD4D	.	frameshift insertion	C2CD4D:NM_001136003:exon2:c.240_241insGACCTGT:p.S81Dfs*278	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288256328	0.0002	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0006	4.303e-05	0.0001	0.0019	0	0	0.0012	8.968e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.744e-05	9.07e-05	7.028e-05	2.414e-05	0	0	0.0020	0	0	0.0069	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	207.29	17	chr1	151838749	.	A	AACAGGTC	207.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=2.07;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,6:16:99:0|1:151838749_A_AACAGGTC:221,0,402:151838749	18	0	1	0
chr1	151838751	151838751	-	GGGG	exonic	C2CD4D	.	frameshift insertion	C2CD4D:NM_001136003:exon2:c.238_239insCCCC:p.C80Sfs*278	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	.	0	3.84e-05	1	26028	rs757353692	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	4.316e-05	0.0001	0.0020	0	0	0.0012	8.983e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.732e-05	9.06e-05	7.021e-05	2.41e-05	0	0	0.0020	0	0	0.0068	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	207.29	17	chr1	151838751	.	C	CGGGG	207.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.74;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,6:16:99:0|1:151838749_A_AACAGGTC:221,0,403:151838749	18	0	1	0
chr1	152107590	152107590	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G5627A:p.R1876Q	.	411	1098	13	0	0	13	0.00588502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00474078358961	0.0014	0.000199681	0.0010	0.0002	0.0006	0	0.0002	0.0016	0.0011	0.0003	0.001009	156	154602	rs140720320	0.0012	0.0012	0.0013	0.0012	0.0160	0.0012	0.0012	0.0133	0.0123	0.0009	0.0015	0.0042	0	0.0002	0.0160	0.0012	0.0020	0.0002	0.0013	0.0013	0.0015	0.0012	0.0037	0.0012	0.0011	0.0030	0.0027	0.0004	0	0.0037	0.0026	0	0.0004	0.0102	0.0016	0.0028	0	0.019	0.50132	D	0.366	0.16668	T	0.192	0.29441	B	0.031	0.21939	B	.	.	.	.	0.999731	0.20548	N	1.47	0.36993	L	3.37	0.05847	T	-0.75	0.21003	N	0.151	0.15469	-0.9207	0.45458	T	0.005	0.01688	T	9	0.0036735237	0.00067	T	0.004741	0.11816	T	0.017	0.02790	.	.	0.408172294925	0.40431	0.011184448602133966	0.01078	0.434493501323	0.43583	0.369336128235	0.20736	T	0.001152	0.00660	T	-0.631564	0.00093	T	-0.704602	0.05577	T	0.0209389658760518	0.00795	T	0.559944	0.19565	T	0.048687417	0.08526	0.07052216	0.14992	0.048687417	0.08525	0.07052216	0.14992	-4.541	0.31421	T	.	.	0.142	0.31203	B	.;.	.;.	1.646512	0.21009	15.01	0.99415157189876113	0.63501	0.04363	0.09934	N	AEFDBCI	0.084672	0.17162	N	-0.728557768569995	0.15221	0.7652649	-0.726968794032405	0.16290	0.8610798	0.99994808521316	0.47345	0.455138	0.09556	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.29	1.35	0.21078	-0.184000	0.09693	.	.	-1.095000	0.01525	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5814:0.0:0.4186	6.567	0.21711	480	0.77422	.;.	.	.	.	.	.	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	0.011581	0.000000	0.017663	0.017544	0.000000	0.034483	0.000000	0.003788	0.02632	3609.33	44	chr1	152107590	.	C	T	3609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=2887;ExcessHet=0;FS=0.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.656;SOR=0.647	GT:AD:DP:GQ:PL	0/1:177,141:318:99:3623,0,4306	18	0	1	0
chr1	152217599	152217599	T	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A4030C:p.S1344R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00156535777422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450192481	0.0017	0.0074	0.0017	0.0017	0.0052	0.0015	0.0014	0.0038	0.0034	8.637e-05	0.0024	0.0009	0.0052	0.0021	0.0030	0.0015	0.0014	0.0014	0.0001	0.0063	0	0.0002	0.0001	0	0	.	.	0.0001	.	0	.	0	0	.	0	0	0	0.776	0.03326	T	0.523	0.10354	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	4.21	0.02664	T	-0.98	0.25986	N	0.106	0.09066	-0.9067	0.47250	T	0.001	0.00467	T	9	0.02778691	0.00919	T	0.001565	0.02471	T	0.007	0.00512	0.332	0.31843	0.137902524267	0.13322	0.048293076146962606	0.04772	.	.	0.479473590851	0.35984	T	0.012378	0.10888	T	-0.413799	0.01876	T	-0.83217	0.01224	T	0.0311097682579931	0.02164	T	0.178282	0.01754	T	0.05319536	0.10031	0.051419627	0.08271	0.05319536	0.10031	0.051419627	0.08271	-4.99	0.36731	T	.	.	0.223	0.45483	B	.	.	-2.713425	0.00019	0.001	0.18643636364747598	0.00595	0.00395	0.01981	N	AEFI	0.034460	0.04272	N	-2.74901775895161	0.00004	0.0001790914	-2.83359311602873	0.00003	0.0001701767	0.117692471896185	0.16807	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.36	-6.73	0.01586	-11.323000	0.00005	.	.	-7.766000	0.00001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1151:0.1348:0.2288:0.5213	2.757	0.04971	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.22	15	chr1	152217599	.	T	G	75.22	.	AC=2;AF=0.083;AN=24;DP=122;ExcessHet=0;FS=0;InbreedingCoeff=0.6117;MLEAC=2;MLEAF=0.083;MQ=42;QD=26.18;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:152217569_C_A:90,6,0:152217569	11	1	0	7
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:379,70:449:99:1123,0,10656	11	0	7	1
chr1	153032507	153032507	C	0	exonic	SPRR1B	.	.	.	.	506	390	437	182	7	808	0.506641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	26379.6	227	chr1	153032507	.	C	*	26379.6	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.7;DP=2119;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=4;MLEAF=0.105;MQ=59.58;MQRankSum=0;QD=14.45;ReadPosRankSum=0.487;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,70:176:99:.:.:2464,0,4145:.	16	1	2	0
chr1	153535203	153535203	G	A	exonic	S100A6	.	nonsynonymous SNV	S100A6:NM_014624:exon2:c.C137T:p.S46L	.	409	1109	4	0	0	4	0.00180018	0.0001	0.18	.	2761249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00388629996236	.	.	0.0001	0	0	0	0	0.0002	0	0	0.0001358	21	154602	rs201689788	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	5.974e-05	2.236e-05	0	0	0	0.0010	0.0003	0.0003	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.241e-05	0.0002	0.0001	4.827e-05	0	6.546e-05	0	0	0	0	0.0003	0.0010	0.0002	0.219	0.19023	T	0.273	0.23707	T	0.0	0.02946	B	0.0	0.01387	B	0.062036	0.02151	N	2.325170	1	0.08975	N	.	.	.	3.33	0.06138	T	-1.47	0.35991	N	0.094	0.09349	-0.9216	0.45334	T	0.004	0.01125	T	9	0.063851506	0.08380	T	0.003886	0.09117	T	0.042	0.11227	.	.	0.238096912614	0.23440	0.21583721017790716	0.21499	0.151351034998	0.17085	0.270739167929	0.06237	T	0.155607	0.49742	T	-0.548763	0.00297	T	-0.721489	0.04724	T	0.0752076357603073	0.09364	T	0.305369	0.05850	T	0.14388987	0.33052	0.08797365	0.20483	0.14388987	0.33052	0.08797365	0.20482	-3.229	0.12838	T	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	2.307462	0.29537	18.15	0.91314999949659104	0.20576	0.09088	0.14913	N	AEFDGBHCI	0.273369	0.38879	N	-0.421359506755625	0.24721	1.336889	-0.591774795817681	0.19706	1.058514	0.999999972216913	0.74766	0.733237	0.96898	0	0.851219	0.99844	0	0.493711	0.08198	1	0.621717	0.48901	0	.	.	4.82	-1.12	0.09306	0.122000	0.15515	0.831000	0.21948	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1875:0.0:0.3927:0.4199	4.110	0.09526	830	0.39242	S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1392.33	40	chr1	153535203	.	G	A	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=779;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.167;SOR=0.46	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1406,0,1352	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:88,49:137:99:291,0,1209	7	0	10	2
chr1	153982788	153982788	C	A	exonic	RAB13	.	nonsynonymous SNV	RAB13:NM_001272038:exon5:c.G102T:p.E34D,RAB13:NM_002870:exon5:c.G345T:p.E115D	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0416179679882	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773169319	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.139	0.33666	T	0.136	0.27347	B	0.115	0.31843	B	0.000723	0.42129	D	0.257582	0.947438	0.26600	N	0.81	0.20779	L	-1.3	0.79571	T	-2.57	0.55501	D	0.357	0.40963	-0.8506	0.51926	T	0.200	0.55612	T	10	0.21829823	0.38467	T	0.041618	0.60024	D	0.212	0.50341	0.328	0.31196	0.677488429002	0.67474	0.528053621543825	0.52729	0.549042539457	0.51823	0.661719441414	0.61655	T	0.337889	0.70722	T	-0.0440923	0.45341	T	-0.301112	0.44607	T	0.250667333602905	0.22903	T	0.964804	0.86967	D	0.11533269	0.27217	0.13084112	0.31431	0.11533269	0.27216	0.13084112	0.31430	-6.299	0.48714	T	.	.	0.611	0.69341	P	.;.	.;.	2.430379	0.31268	18.69	0.99240611120602362	0.56533	0.63134	0.31995	D	AEFGBHCI	0.357647	0.44860	N	-0.623043979964294	0.18254	0.946189	-0.527647244109789	0.21404	1.157709	0.99392746965302	0.33413	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	1.95	0.25130	-0.282000	0.08478	0.562000	0.19521	-0.172000	0.11096	0.324000	0.25538	0.997000	0.33255	0.941000	0.48210	0.0:0.6838:0.0:0.3162	9.854	0.40241	78	0.96748	.;Small GTP-binding 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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1224.33	42	chr1	153982788	.	C	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=756;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.19;SOR=0.911	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1238,0,1158	18	0	1	0
chr1	155853608	155853608	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon2:c.G173A:p.G58D,GON4L:NM_001282858:exon2:c.G173A:p.G58D,GON4L:NM_001282860:exon2:c.G173A:p.G58D,GON4L:NM_001282861:exon2:c.G173A:p.G58D,GON4L:NM_032292:exon2:c.G173A:p.G58D	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00478751654215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.18122	T	0.464	0.12456	T	0.001	0.12183	B	0.002	0.14941	B	0.848260	0.08982	N	0.915558	1	0.08975	N	0.95	0.23787	L	2.6	0.15492	T	-1.31	0.32991	N	0.166	0.21969	-0.9036	0.47606	T	0.008	0.02638	T	10	0.051503688	0.05041	T	0.004788	0.11973	T	0.008	0.00669	0.214	0.13354	0.263709349026	0.25991	0.09680749413085396	0.09612	0.45656381799	0.45305	0.298430919647	0.10168	T	0.094696	0.39469	T	-0.284329	0.10214	T	-0.646195	0.09223	T	0.0335327024632267	0.02559	T	0.681032	0.28992	T	0.028782934	0.02270	0.055005014	0.09568	0.028782934	0.02270	0.055005014	0.09568	-2.897	0.09113	T	.	.	0.111	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.463978	0.08339	5.087	0.35070218057016911	0.02180	0.03836	0.09183	N	AEFBI	0.026641	0.02036	N	-1.26026611827526	0.04166	0.1874943	-1.27675584353955	0.04746	0.2246016	0.984069794715907	0.30658	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.04	0.041	0.13528	0.184000	0.16748	-0.121000	0.11721	-0.182000	0.10109	0.000000	0.06391	0.045000	0.21693	0.489000	0.28769	0.0:0.5499:0.0:0.4501	6.322	0.20428	77	0.96778	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2344.33	46	chr1	155853608	.	C	T	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.855;DP=1004;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.747;SOR=0.707	GT:AD:DP:GQ:PL	0/1:128,94:222:99:2358,0,3389	18	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.02632	659.33	35	chr1	156581456	.	G	A	659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.098;DP=700;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.367;SOR=0.483	GT:AD:DP:GQ:PL	0/1:38,29:67:99:673,0,957	18	0	1	0
chr1	156876404	156876404	T	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon13:c.T1619C:p.L540P,NTRK1:NM_001007792:exon14:c.T1529C:p.L510P,NTRK1:NM_002529:exon14:c.T1637C:p.L546P	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	0.19521000819	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297390807	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	2.63e-05	2.627e-05	2.57e-05	2.692e-05	9.653e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000358	0.45440	D	0.000000	1	0.81001	D	2.76	0.80626	M	-2.83	0.91249	D	-6.18	0.90294	D	0.944	0.95841	0.868	0.95252	D	0.834	0.94426	D	10	0.94046855	0.93373	D	0.19521	0.86408	D	0.928	0.98267	0.773	0.89924	0.989610041309	0.98949	0.9600929605418825	0.95995	1.13869301168	0.78854	0.78736281395	0.80041	T	0.910604	0.98314	D	0.446645	0.92329	D	0.403798	0.92233	D	0.996497213840485	0.89462	D	0.970603	0.89432	D	0.9706482	0.98320	0.94787025	0.98269	0.9706482	0.98320	0.94787025	0.98270	-14.204	0.94610	D	0.6334220308667733	0.70313	0.982	0.91596	P	.;.;.;.	.;.;.;.	4.673152	0.74702	26.2	0.9987200576126819	0.94989	0.98378	0.82168	D	AEFDBHCIJ	0.977390	0.99720	D	0.695016610978813	0.79305	7.049914	0.597286260334892	0.74745	6.189496	0.999999999999773	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	5.27	5.27	0.73797	6.204000	0.72071	7.781000	0.68671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.0:0.0:1.0	14.154	0.64942	556	0.71678	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	580.33	35	chr1	156876404	.	T	C	580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.791;DP=671;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.754;SOR=1.053	GT:AD:DP:GQ:PL	0/1:23,22:45:99:594,0,627	18	0	1	0
chr1	158642855	158642855	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.A4564G:p.T1522A	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	277665	SPTA1-related_disorder|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3	.|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0207780062643	0.0002	0.000399361	0.0007	0	0.0003	0	0	0.0011	0.0022	0.0005	0.000705	109	154602	rs201910178	0.0010	0.0010	0.0009	0.0010	0.0075	0.0009	0.0009	0.0057	0.0051	0.0002	0.0003	0.0037	0	0.0002	0.0075	0.0010	0.0011	0.0006	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0029	0	9.416e-05	0	0.0013	0	0	0.099	0.30656	T	0.458	0.12668	T	0.132	0.27209	B	0.156	0.34472	B	0.885278	0.08726	N	0.917774	0.990658	0.24142	N	2.5	0.72771	M	0.8	0.48769	T	-1.39	0.34397	N	0.474	0.50958	-0.9474	0.41414	T	0.061	0.25310	T	10	0.013800144	0.00292	T	0.020778	0.43441	T	0.063	0.18251	.	.	0.648292071497	0.64537	0.05070870838630936	0.05012	0.0609435135893	0.06783	0.252494364977	0.04035	T	0.246818	0.61635	T	-0.461801	0.00958	T	-0.486562	0.23751	T	0.035502270005993	0.02894	T	0.910209	0.68156	D	0.108236	0.25591	0.08472892	0.19511	0.108236	0.25591	0.08472892	0.19510	-5.355	0.40484	T	0.4290842476968101	0.51652	0.085	0.10111	B	.;.	.;.	2.851845	0.37657	20.5	0.97629653443492093	0.35012	0.92535	0.55939	D	AEFBI	0.383512	0.46499	N	-0.199141202593261	0.33170	1.878869	-0.119189309491666	0.34617	1.993258	0.126240631492949	0.16995	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.84	0.32241	3.990000	0.56677	0.947000	0.22895	-0.120000	0.14102	1.000000	0.71638	0.077000	0.22320	0.983000	0.59808	0.0:0.1536:0.0:0.8464	8.846	0.34331	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.005051	0.001359	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1562.33	55	chr1	158642855	.	T	C	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=822;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.327;SOR=0.754	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1576,0,1723	18	0	1	0
chr1	160876668	160876668	C	G	exonic	ITLN1	.	nonsynonymous SNV	ITLN1:NM_017625:exon8:c.G938C:p.R313P	.	432	1087	3	0	0	3	0.00137804	.	.	.	731817	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00676300800131	0.0041	0.00219649	0.0039	0.0008	0.0009	0.0001	0.0067	0.0058	0.0022	0.0013	0.0039003	603	154602	rs8144	0.0040	0.0040	0.0041	0.0038	0.0046	0.0039	0.0039	0.0045	0.0044	0.0006	0.0012	3.827e-05	0	0.0054	0.0014	0.0046	0.0034	0.0016	0.0031	0.0031	0.0032	0.0029	0.0051	0.0028	0.0027	0.0047	0.0045	0.0008	0.0055	0.0016	0	0	0.0043	0	0.0051	0.0024	0.0012	0.002	0.72154	D	0.0	0.92824	D	0.984	0.60733	D	0.956	0.69739	D	0.472297	0.12263	U	0.573394	1	0.08975	N	3.2	0.89116	M	1.31	0.35405	T	-5.97	0.89272	D	0.426	0.46555	-0.8509	0.51905	T	0.162	0.49731	T	10	0.013568729	0.00287	T	0.006763	0.17868	T	0.115	0.32236	.	.	0.229924730088	0.22615	0.9071364199711618	0.90686	0.595635122751	0.54831	0.22680285573	0.01740	T	0.603778	0.87340	D	-0.442375	0.01252	T	-0.40505	0.32797	T	0.0920702545526738	0.11461	T	0.940606	0.77652	D	0.76805305	0.81931	0.63672584	0.78789	0.76805305	0.81933	0.63672584	0.78789	-12.308	0.86319	D	.	.	0.833	0.78867	P	.	.	1.314474	0.17179	13.01	0.87438585777774325	0.17228	0.02814	0.07545	N	AEFDBI	0.235142	0.35779	N	-0.748961719611894	0.14662	0.7322402	-1.08199861253516	0.08054	0.3943942	0.998051457581494	0.36367	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.17	-3.14	0.04928	-0.642000	0.05524	-4.920000	0.01926	-1.051000	0.01640	0.017000	0.19353	0.000000	0.08366	0.692000	0.33898	0.0:0.481:0.0:0.519	11.037	0.47021	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	985.33	36	chr1	160876668	.	C	G	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=685;ExcessHet=0;FS=3.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.249;SOR=1.209	GT:AD:DP:GQ:PL	0/1:26,36:62:99:999,0,608	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	0/1:187,45:237:99:193,0,4385	7	0	12	0
chr1	166070404	166070404	C	T	exonic	FAM78B	.	nonsynonymous SNV	FAM78B:NM_001017961:exon2:c.G623A:p.R208Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0110068760419	.	.	1.652e-05	9.615e-05	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs775991053	5.473e-06	6.156e-06	4.084e-06	6.875e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.0	0.92824	D	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	.	.	.	-3.68	0.70314	D	0.907	0.90818	-0.2408	0.76605	T	0.387	0.74180	T	8	0.89986324	0.89346	D	0.011007	0.28187	T	0.681	0.88300	0.783	0.90693	0.773127783592	0.77104	0.7309247142228043	0.73037	1.54617833826	0.87831	0.812075614929	0.83811	D	0.423198	0.77403	T	0.304135	0.83294	D	0.38062	0.91451	D	0.919410943984985	0.57811	D	0.990658	0.97102	D	0.49939236	0.67060	0.33854115	0.59630	0.49939236	0.67060	0.33854115	0.59630	-3.883	0.22047	T	.	.	0.987	0.92817	P	.;.	.;.	4.537757	0.71295	25.7	0.99943405127570817	0.99848	0.84201	0.43284	D	AEFCI	0.949244	0.96170	D	0.868222518854619	0.90121	10.26153	0.847858631950756	0.92889	11.69454	0.999999501833212	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.798000	0.84489	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	17.352	0.87214	918	0.19598	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3610.33	34	chr1	166070404	.	C	T	3610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=887;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.301;SOR=0.753	GT:AD:DP:GQ:PL	0/1:97,131:228:99:3624,0,2358	18	0	1	0
chr1	171117177	171117177	C	G	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001319174:exon8:c.C1145G:p.P382R,FMO3:NM_001002294:exon9:c.C1334G:p.P445R,FMO3:NM_006894:exon9:c.C1334G:p.P445R,FMO3:NM_001319173:exon10:c.C1274G:p.P425R	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.0769283326203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.992	0.80445	D	0.000079	0.52346	D	0.173902	0.999996	0.58761	D	2.96	0.85114	M	-0.24	0.66834	T	-7.72	0.95696	D	0.66	0.66959	-0.1764	0.78271	T	0.395	0.74778	T	10	0.97404635	0.97102	D	0.076928	0.72650	D	0.622	0.85354	0.94	0.99182	0.700125190599	0.69753	0.7753590776579756	0.77485	0.273231095444	0.29826	0.474378287792	0.35284	T	0.072262	0.34411	T	0.182039	0.72230	D	0.0237099	0.71870	D	0.995927035808563	0.88327	D	0.768523	0.39806	T	0.7452648	0.80594	0.6720337	0.80753	0.7452648	0.80596	0.6720337	0.80754	-10.465	0.76646	D	.	.	0.847	0.79589	P	.	.	3.683912	0.52454	23.2	0.99728298145146776	0.82549	0.98729	0.86106	D	AEFGBIJ	0.897191	0.83908	D	0.377542439817442	0.60205	4.207126	0.2868903936034	0.54772	3.641382	0.999538017675596	0.40238	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	3.36	0.37579	5.025000	0.63873	3.110000	0.36356	-0.313000	0.06017	1.000000	0.71638	0.977000	0.30130	0.990000	0.65344	0.0:0.8375:0.0:0.1625	11.001	0.46822	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	3368.33	36	chr1	171117177	.	C	G	3368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.069;DP=917;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.123;SOR=0.76	GT:AD:DP:GQ:PL	0/1:149,141:290:99:3382,0,3997	18	0	1	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	2445.33	33	chr1	173207098	.	C	T	2445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=818;ExcessHet=0;FS=4.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.711;SOR=0.982	GT:AD:DP:GQ:PL	0/1:106,92:198:99:2459,0,2660	18	0	1	0
chr1	177032795	177032795	T	C	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon3:c.A526G:p.T176A,ASTN1:NM_001364856:exon3:c.A526G:p.T176A,ASTN1:NM_004319:exon3:c.A526G:p.T176A,ASTN1:NM_207108:exon3:c.A526G:p.T176A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0160085033899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	0.682	0.06090	T	0.99	0.63424	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	2.5	0.14408	T	-1.02	0.28290	N	0.357	0.43223	-1.1142	0.02733	T	0.053	0.22307	T	10	0.23836967	0.40956	T	0.016009	0.37051	T	0.241	0.54641	0.24	0.17218	0.662834512758	0.66000	0.7081867532949196	0.70760	0.497348580915	0.48234	0.866027235985	0.91996	D	0.03662	0.24171	T	0.117577	0.66128	D	-0.0688847	0.65706	T	0.833665251731873	0.48818	D	0.884012	0.61335	D	.	.	.	.	.	.	.	.	-7.348	0.56536	T	.	.	0.374	0.62951	A	.;.;.	.;.;.	3.918429	0.57191	23.8	0.96684288777210536	0.30711	0.95588	0.65322	D	AEFGBI	0.751048	0.69197	D	0.365750492848391	0.59576	4.138153	0.421590821260553	0.62912	4.514948	0.99999999997662	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	5.123000	0.64543	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.313	0.73761	862	0.33134	.;.;.	.	.	.	.	.	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	2743.33	43	chr1	177032795	.	T	C	2743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=844;ExcessHet=0;FS=1.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.501;SOR=0.561	GT:AD:DP:GQ:PL	0/1:97,102:199:99:2757,0,2524	18	0	1	0
chr1	177281367	177281367	T	A	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon8:c.T2191A:p.S731T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0252072680318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.97	0.56973	D	0.681	0.53500	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	2.08	0.20255	T	-1.88	0.43906	N	0.583	0.60410	-0.9265	0.44645	T	0.133	0.44484	T	10	0.34459049	0.51449	T	0.025207	0.48187	D	0.172	0.43662	0.198	0.11110	0.082315109003	0.07666	0.791977755482779	0.79149	0.848795170264	0.68431	0.68205344677	0.64563	T	0.077958	0.35778	T	-0.0698304	0.41355	T	-0.338083	0.40561	T	0.952427387237549	0.63788	D	0.749925	0.37107	T	0.4438098	0.63647	0.4876372	0.70350	0.4438098	0.63648	0.4876372	0.70350	-3.885	0.22077	T	.	.	0.564	0.67394	P	.	.	4.602127	0.72904	25.9	0.9950416025628388	0.68206	0.94650	0.61861	D	AEFBI	0.676698	0.64165	D	0.581487451056986	0.72020	5.740412	0.566364937883489	0.72543	5.826563	0.994538411906765	0.33682	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	6.064000	0.70804	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.468	0.67075	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2425.33	36	chr1	177281367	.	T	A	2425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=835;ExcessHet=0;FS=7.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.41;SOR=1.14	GT:AD:DP:GQ:PL	0/1:85,92:177:99:2439,0,1991	18	0	1	0
chr1	183563455	183563455	C	T	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon10:c.G914A:p.R305Q,NCF2:NM_001190794:exon11:c.G1022A:p.R341Q,NCF2:NM_000433:exon12:c.G1157A:p.R386Q,NCF2:NM_001127651:exon13:c.G1157A:p.R386Q	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	277870	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_provided	MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0006	0.00159744	0.0023	0.0002	0.0002	0.0001	0	0.0009	0.0022	0.0128	0.0019534	302	154602	rs147908264	0.0012	0.0012	0.0008	0.0016	0.0131	0.0011	0.0011	0.0125	0.0122	8.961e-05	0.0001	0.0047	0	0	0.0040	0.0003	0.0012	0.0131	0.0008	0.0008	0.0005	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0002	0	0.0001	0.0046	0.0004	0	0	0.0005	0.0009	0.0108	0.381	0.11298	T	0.446	0.13103	T	0.005	0.12996	B	0.006	0.12133	B	0.309013	0.14466	N	0.703897	1	0.08975	N	-0.55	0.02420	N	2.02	0.21119	T	0.74	0.10136	N	0.056	0.03283	-1.0052	0.28397	T	0.013	0.04985	T	10	0.0024029315	0.00036	T	.	.	.	0.033	0.08068	.	.	0.378148810121	0.37422	0.18134710352317318	0.18053	0.391775790859	0.40374	0.233727142215	0.02255	T	0.026443	0.19569	T	-0.636296	0.00088	T	-0.675741	0.07245	T	0.00560708503008799	0.00061	T	0.80302	0.47811	T	0.19587156	0.41392	0.10195045	0.24422	0.3506981	0.57122	0.11283788	0.27228	-1.779	0.02576	T	0.07251759788107494	0.02979	0.073	0.04764	B	.;.;.;.;.;.	.;.;.;.;.;.	0.673286	0.10417	7.140	0.92516542919920997	0.21957	0.03912	0.09295	N	AEFBCI	0.042016	0.06465	N	-1.48969422206998	0.01922	0.08435966	-1.48435326832066	0.02472	0.1137646	0.999898119030811	0.45129	0.631515	0.41029	0	0.697927	0.68747	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.74	-7.78	0.01086	-0.423000	0.07102	0.741000	0.21161	-0.136000	0.12710	0.001000	0.13787	0.104000	0.22711	0.852000	0.40310	0.1765:0.1865:0.354:0.2831	1.658	0.02617	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain;PB1 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	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	5438.33	34	chr1	183563455	.	C	T	5438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.83;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.02;SOR=0.66	GT:AD:DP:GQ:PL	0/1:264,210:474:99:5452,0,6270	18	0	1	0
chr1	185144020	185144020	G	A	exonic	TRMT1L	.	nonsynonymous SNV	TRMT1L:NM_001202423:exon6:c.C197T:p.A66V,TRMT1L:NM_030934:exon6:c.C665T:p.A222V	.	449	1061	10	2	0	14	0.00655431	.	.	.	2806249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00341098966616	0.0042	0.00139776	0.0045	0.0008	0.0029	0	0.0022	0.0068	0.0034	0.0018	0.0048188	745	154602	rs114355007	0.0068	0.0068	0.0069	0.0066	0.0082	0.0066	0.0066	0.0080	0.0080	0.0012	0.0031	0.0016	0	0.0028	0.0032	0.0082	0.0043	0.0015	0.0043	0.0043	0.0044	0.0042	0.0072	0.0040	0.0039	0.0067	0.0065	0.0015	0.0011	0.0035	0.0012	0	0.0029	0.0068	0.0072	0.0062	0.0006	0.142	0.25457	T	0.363	0.16815	T	0.112	0.26290	B	0.039	0.23607	B	0.404776	0.13076	N	0.744172	0.976363	0.25378	N	1.355	0.33814	L	.	.	.	-0.56	0.17003	N	0.044	0.01658	-1.0412	0.16951	T	0.060	0.25237	T	9	0.006470114	0.00146	T	0.003411	0.07664	T	0.031	0.07369	.	.	0.043077524339	0.03247	0.4167891026389075	0.41594	0.313589551721	0.33647	0.279151499271	0.07374	T	0.151736	0.49181	T	-0.552184	0.00283	T	-0.551671	0.17165	T	0.00486766945901861	0.00052	T	0.650435	0.26116	T	0.026074914	0.01620	0.041395884	0.04694	0.026074914	0.01619	0.041395884	0.04694	-3.598	0.17828	T	.	.	0.080	0.07602	B	.	.	1.388053	0.18001	13.49	0.86906625111961955	0.16854	0.87424	0.46959	D	AEFBI	0.263151	0.38075	N	-0.531930513610192	0.21053	1.114526	-0.42842891117944	0.24167	1.321895	0.199165647797193	0.18100	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.03	2.14	0.26518	1.497000	0.35257	3.126000	0.36421	-0.375000	0.05424	1.000000	0.71638	0.998000	0.33993	0.857000	0.40602	0.2306:0.0:0.7694:0.0	9.086	0.35745	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	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	0.004032	0.000000	0.004076	0.005882	0.000000	0.008621	0.003049	0.003788	0.02632	816.33	33	chr1	185144020	.	G	A	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.318;DP=690;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.42;SOR=0.394	GT:AD:DP:GQ:PL	0/1:35,35:70:99:830,0,952	18	0	1	0
chr1	186103490	186103490	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon69:c.G10592A:p.G3531E	.	424	1092	5	1	0	7	0.00319489	.	.	.	1477498	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0486677188173	.	.	0.0001	0	0	0	0	6.014e-05	0	0.0006	9.06e-05	14	154602	rs752255369	4.723e-05	4.72e-05	2.861e-05	6.604e-05	0.0005	3.796e-05	3.478e-05	0.0003	0.0003	0	0	0	0	0	0.0005	1.8e-05	0.0001	0.0005	3.946e-05	3.941e-05	2.571e-05	5.387e-05	0.0006	1.717e-05	1.13e-05	0.0002	9.007e-05	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.187	0.21385	T	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.095664	1	0.81001	D	1.52	0.38360	L	-0.09	0.64086	T	-2.35	0.51968	N	0.591	0.61087	-0.7073	0.60085	T	0.275	0.64639	T	10	0.38278577	0.54319	T	0.048668	0.63474	D	0.328	0.65026	0.411	0.44723	0.793044301672	0.79112	0.7782033608870618	0.77770	0.471827866545	0.46434	0.472764074802	0.35060	T	.	.	.	-0.264924	0.12329	T	-0.261944	0.48629	T	0.243939206004143	0.22599	T	0.824517	0.48627	T	0.2913661	0.52119	0.3599806	0.61447	0.2913661	0.52119	0.3599806	0.61447	-7.347	0.56529	T	.	.	0.139	0.30423	B	.	.	3.552361	0.49947	22.9	0.99338034137003228	0.60051	0.97855	0.77635	D	AEFGBI	0.798879	0.72529	D	0.422430981053957	0.62657	4.485299	0.422516475874003	0.62970	4.521868	0.999999960008334	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620204	0.46100	0	.	.	5.45	3.56	0.39892	6.322000	0.72847	6.618000	0.56110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0688:0.1276:0.8036:0.0	11.241	0.48199	445	0.79730	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	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	1573.33	39	chr1	186103490	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.804;SOR=0.733	GT:AD:DP:GQ:PL	0/1:90,68:158:99:1587,0,2133	18	0	1	0
chr1	186151226	186151226	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon94:c.G14635A:p.V4879I	.	422	1098	2	0	0	2	0.000909918	.	.	.	1491593	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0265056297975	.	.	0.0001	0	0	0	0	2.998e-05	0	0.0007	8.41e-05	13	154602	rs747136780	2.805e-05	2.805e-05	1.089e-05	4.539e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	2.698e-06	6.624e-05	0.0004	6.58e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.492	0.07944	T	0.353	0.17320	T	0.001	0.07471	B	0.004	0.10090	B	0.002286	0.36846	N	0.267696	0.719879	0.33606	D	0.005	0.07933	N	1.06	0.39781	T	-0.02	0.07299	N	0.101	0.08366	-1.0415	0.16860	T	0.046	0.19720	T	10	0.08444551	0.14154	T	0.026506	0.49411	D	0.079	0.23065	0.784	0.90768	0.337378238328	0.33340	0.16533228555958585	0.16453	0.36447533085	0.38064	0.416179895401	0.27311	T	.	.	.	-0.510521	0.00499	T	-0.628374	0.10538	T	0.0497614760534463	0.05459	T	0.842116	0.51841	T	0.052867506	0.09923	0.037253555	0.03340	0.052867506	0.09923	0.037253555	0.03339	-1.192	0.01239	T	.	.	0.075	0.05668	B	.	.	2.498837	0.32255	18.99	0.86124276572629277	0.16329	0.77629	0.38191	D	AEFBI	0.191168	0.31837	N	-0.375791020019519	0.26334	1.436447	-0.162576666805838	0.32926	1.878244	0.999724137315078	0.42220	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.13	4.21	0.48984	1.997000	0.40406	6.706000	0.56386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.171:0.0:0.676:0.153	5.965	0.18553	707	0.57054	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	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	1420.33	33	chr1	186151226	.	G	A	1420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=757;ExcessHet=0;FS=2.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.28;SOR=0.499	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1434,0,1392	18	0	1	0
chr1	200848111	200848111	A	C	exonic	CAMSAP2	.	nonsynonymous SNV	CAMSAP2:NM_001297708:exon11:c.A1294C:p.I432L,CAMSAP2:NM_203459:exon11:c.A1342C:p.I448L,CAMSAP2:NM_001297707:exon12:c.A1375C:p.I459L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00259585	0.0009	0	8.705e-05	0	0	0	0	0.0074	0.0008021	124	154602	rs553031275	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	6.006e-05	0	0	0	0	0.0003	1.802e-06	0.0005	0.0046	0.0002	0.0002	8.994e-05	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0002	0	0	0	0	0.0077	0.628	0.05183	T	1.0	0.01155	T	0.005	0.12996	B	0.009	0.14300	B	0.000012	0.62929	N	0.182425	0.998914	0.45677	D	0.585	0.15399	N	2.69	0.13795	T	0.06	0.07008	N	0.193	0.21969	-1.0622	0.11215	T	0.020	0.08453	T	10	0.00424996	0.00085	T	.	.	.	0.068	0.19811	.	.	0.110392049598	0.10638	0.23816573070912866	0.23730	0.290997932504	0.31501	0.493497997522	0.37925	T	0.021795	0.16915	T	-0.553463	0.00278	T	-0.565453	0.15868	T	0.0704757148752364	0.08717	T	0.848715	0.54290	T	0.13505656	0.31357	0.08647184	0.20036	0.13505656	0.31357	0.08647184	0.20036	-3.902	0.24861	T	.	.	0.082	0.24430	B	.;.;.	.;.;.	2.332019	0.29874	18.26	0.94151249850574947	0.24349	0.98150	0.80031	D	AEFBI	0.703428	0.65947	D	-0.361185355670426	0.26863	1.469409	-0.137911710629174	0.33877	1.942543	0.990256128681588	0.32091	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	4.47	0.53770	5.728000	0.68178	4.663000	0.44246	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8632:0.1367:0.0:0.0	12.808	0.57007	614	0.66605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1109.33	33	chr1	200848111	.	A	C	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=715;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.809;SOR=0.834	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1123,0,974	18	0	1	0
chr1	202305720	202305720	C	A	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017404:exon10:c.C690A:p.S230R,LGR6:NM_001017403:exon12:c.C1107A:p.S369R,LGR6:NM_021636:exon12:c.C951A:p.S317R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.18162594606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865792924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.01	0.70582	D	1.0	0.90584	D	0.995	0.92359	D	0.000000	0.84330	D	0.041429	0.512924	0.31834	D	2.325	0.66631	M	0.96	0.57880	T	-3.28	0.69357	D	0.789	0.78546	-0.3853	0.72488	T	0.298	0.66924	T	10	0.51508355	0.62319	D	0.181626	0.85568	D	0.300	0.62068	0.368	0.37687	0.864246407406	0.86293	0.699870577063907	0.69928	0.935186057414	0.71990	0.525863289833	0.42452	T	0.503481	0.82296	D	0.0851315	0.62636	D	-0.115491	0.62172	T	0.986406028270721	0.77130	D	0.783222	0.57812	T	0.56175596	0.70607	0.38757062	0.63622	0.56175596	0.70608	0.38757062	0.63622	-9.46	0.70610	D	.	.	0.413	0.61061	A	.;.;.;.	.;.;.;.	3.306261	0.45409	22.1	0.99773747906716304	0.86174	0.80790	0.40339	D	AEFDBI	0.223407	0.34777	N	0.42245541882904	0.62657	4.485462	0.34530211554285	0.58226	3.991828	0.239486973018758	0.18555	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.69	2.86	0.32427	0.306000	0.19030	0.562000	0.19521	0.599000	0.40250	0.996000	0.39380	0.998000	0.33993	0.956000	0.50813	0.0:0.6633:0.0:0.3367	7.383	0.26041	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	1726.33	33	chr1	202305720	.	C	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-2.536;SOR=0.751	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1740,0,1803	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|1:120,33:153:99:0|1:204444146_C_T:272,0,3770:204444146	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|1:120,33:153:99:0|1:204444146_C_T:272,0,3770:204444146	9	0	10	0
chr1	205523692	205523692	G	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_212503:exon3:c.G340A:p.A114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0235907565388	.	.	0.0001	0	0	0	0	0	0	0.0006	1.29e-05	2	154602	rs752679057	8.906e-06	9.577e-06	5.805e-06	1.215e-05	0.0002	4.75e-06	3.75e-06	8.418e-05	6.526e-05	0	0	0	0	0	0	0	1.799e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.933	0.27080	T	0.565	0.13030	T	0.013	0.16609	B	0.01	0.14941	B	0.000066	0.00414	U	21.457700	1	0.08975	N	.	.	.	-0.43	0.69657	T	0.46	0.10656	N	0.137	0.13484	-1.0189	0.24074	T	0.116	0.40986	T	10	0.029416561	0.01069	T	0.023591	0.46557	T	0.116	0.32463	0.358	0.36060	0.467416895013	0.46368	0.12371982742249779	0.12297	0.198364346356	0.22213	0.29017573595	0.08948	T	0.010943	0.16317	T	-0.138657	0.30104	T	-0.436947	0.29149	T	0.0490721344398588	0.05336	T	0.509849	0.16238	T	.	.	.	.	.	.	.	.	-3.961	0.23218	T	.	.	0.083	0.10400	B	.;.;.;.	.;.;.;.	0.555026	0.09238	6.018	0.11745387013270757	0.00185	0.05308	0.11156	N	AEFDGBCI	0.072816	0.14545	N	-1.18555660501319	0.05218	0.2373537	-1.2028077254452	0.05865	0.2806534	0.999986195936992	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.584781	0.30282	0	0.530356	0.10902	0	.	.	3.49	0.355	0.15305	-0.060000	0.11669	1.314000	0.25557	0.676000	0.76740	0.000000	0.06391	0.006000	0.19429	0.029000	0.12982	0.1279:0.2132:0.4403:0.2186	1.589	0.02490	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2696.33	37	chr1	205523692	.	G	A	2696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.19;DP=889;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.442;SOR=0.776	GT:AD:DP:GQ:PL	0/1:94,99:193:99:2710,0,2495	18	0	1	0
chr1	206013826	206013826	-	TT	exonic	CTSE	.	frameshift insertion	CTSE:NM_001317331:exon5:c.505_506insAA:p.S169Kfs*3,CTSE:NM_001910:exon6:c.730_731insAA:p.S244Kfs*3,CTSE:NM_148964:exon6:c.730_731insAA:p.S244Kfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425866422	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	2.987e-05	2.236e-05	0	0	0	0.0005	8.995e-07	0.0003	0.0053	0.0002	0.0002	8.999e-05	0.0003	0.0064	0.0001	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1816.29	34	chr1	206013826	.	C	CTT	1816.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.631;SOR=0.72	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1830,0,2246	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|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	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|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	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|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	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	0/1:51,25:81:57:57,0,819	8	0	11	0
chr1	224681025	224681025	C	T	exonic	CNIH3	.	nonsynonymous SNV	CNIH3:NM_001322303:exon2:c.C167T:p.A56V,CNIH3:NM_001322305:exon2:c.C149T:p.A50V,CNIH3:NM_152495:exon2:c.C149T:p.A50V,CNIH3:NM_001322302:exon3:c.C233T:p.A78V,CNIH3:NM_001322304:exon3:c.C95T:p.A32V	.	430	1091	1	0	0	1	0.000458085	0.9829	0.882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00760038829143	.	.	2.471e-05	0.0002	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs751126399	1.026e-05	1.094e-05	9.533e-06	1.1e-05	8.964e-05	6.16e-06	4.89e-06	2.375e-05	1.43e-05	8.964e-05	2.236e-05	0	2.519e-05	0	0	4.498e-06	0	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.024	0.47745	D	0.212	0.26549	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	1.59	0.40313	L	.	.	.	-0.68	0.19509	N	0.524	0.55366	-0.5047	0.68479	T	0.287	0.65928	T	9	0.4413101	0.58119	T	0.008	0.20166	T	0.221	0.51721	0.509	0.60540	0.345632371893	0.34166	0.862103594920284	0.86174	1.25464454883	0.81874	0.829744815826	0.86523	D	0.120506	0.44280	T	-0.101177	0.36231	T	-0.103675	0.63112	T	0.357976883649826	0.27330	T	0.90281	0.66017	D	0.24508058	0.47463	0.21437652	0.45985	0.24508058	0.47462	0.21437652	0.45984	-3.896	0.22243	T	.	.	0.348	0.56442	A	.	.	5.690647	0.93057	33	0.99904586817909491	0.97576	0.91524	0.53711	D	AEFDBI	0.656614	0.62854	D	0.58246810675608	0.72081	5.749872	0.598452953176326	0.74828	6.20404	0.999998372518875	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	5.177000	0.64870	7.550000	0.60255	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	17.775	0.88415	622	0.65860	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1307.33	43	chr1	224681025	.	C	T	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.777;DP=750;ExcessHet=0;FS=9.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.169;SOR=0.232	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1321,0,1131	18	0	1	0
chr1	226233456	226233456	T	G	exonic	LIN9	.	nonsynonymous SNV	LIN9:NM_001366240:exon11:c.A1034C:p.E345A,LIN9:NM_001270409:exon12:c.A1256C:p.E419A,LIN9:NM_001366237:exon12:c.A1280C:p.E427A,LIN9:NM_001366239:exon12:c.A1259C:p.E420A,LIN9:NM_001270410:exon13:c.A1157C:p.E386A,LIN9:NM_001366238:exon13:c.A1358C:p.E453A,LIN9:NM_001366241:exon13:c.A1157C:p.E386A,LIN9:NM_001366245:exon13:c.A1313C:p.E438A,LIN9:NM_173083:exon13:c.A1361C:p.E454A	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.005937382406	0.0059	0.00159744	0.0048	0.0011	0.0012	0	0.0033	0.0077	0.0066	0.0012	0.004987	771	154602	rs138510303	0.0078	0.0078	0.0080	0.0076	0.0094	0.0076	0.0076	0.0093	0.0092	0.0011	0.0017	0.0010	0	0.0039	0.0012	0.0094	0.0064	0.0016	0.0048	0.0048	0.0053	0.0042	0.0082	0.0045	0.0044	0.0076	0.0074	0.0017	0.0033	0.0035	0.0006	0.0002	0.0030	0	0.0082	0.0033	0.0014	0.009	0.57480	D	0.047	0.49663	D	0.954	0.54400	P	0.638	0.52030	P	0.000000	0.84330	D	0.091400	1	0.81001	D	.	.	.	.	.	.	-3.82	0.73151	D	0.491	0.56576	-0.6525	0.62605	T	0.198	0.55272	T	9	0.009174824	0.00207	T	0.005937	0.15490	T	0.573	0.82686	.	.	0.171220215726	0.16700	0.5512695888489655	0.55052	1.05308525132	0.76224	0.651935577393	0.60260	T	0.069884	0.35688	T	-0.267678	0.12016	T	-0.149316	0.59305	T	0.0154248972218012	0.00346	T	0.953405	0.82184	D	.	.	.	.	.	.	.	.	-4.235	0.27255	T	.	.	0.265	0.49931	B	.;.;.;.	.;.;.;.	3.987654	0.58662	24.0	0.99557816723385295	0.71583	0.94427	0.61130	D	ALL	0.856448	0.77369	D	0.473255866481619	0.65534	4.834584	0.542044414370088	0.70845	5.565564	0.999999999999993	0.74766	0.732398	0.92422	0	0.68618	0.66647	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.356000	0.78699	7.739000	0.67979	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.666	0.76982	610	0.67008	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.050000	0.000000	0.000000	0.000000	0.02632	673.33	40	chr1	226233456	.	T	G	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=713;ExcessHet=0;FS=2.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.331;SOR=1.001	GT:AD:DP:GQ:PL	0/1:35,29:64:99:687,0,795	18	0	1	0
chr1	227816191	227816191	G	A	exonic	PRSS38	.	nonsynonymous SNV	PRSS38:NM_001374657:exon2:c.G250A:p.V84I,PRSS38:NM_183062:exon2:c.G250A:p.V84I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0375784614529	.	.	1.665e-05	0	0	0	0	1.52e-05	0	6.07e-05	1.29e-05	2	154602	rs188432918	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	0	0.0002	1.169e-05	1.656e-05	2.319e-05	6.567e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.922	0.02855	T	0.045	0.21781	B	0.016	0.17743	B	0.800378	0.09328	N	0.878207	1	0.08975	N	-0.625	0.02162	N	-2.37	0.88220	D	0.44	0.03243	N	0.055	0.02658	-0.6821	0.61275	T	0.286	0.65802	T	10	0.12775537	0.24297	T	0.037578	0.57701	D	0.182	0.45420	.	.	0.435043484731	0.43121	0.08961844952859407	0.08894	0.0501893739113	0.05505	0.313265144825	0.12401	T	0.04012	0.25420	T	-0.207282	0.19763	T	-0.438668	0.28958	T	0.0564160225727227	0.06591	T	0.516848	0.16688	T	0.03847309	0.05131	0.036075618	0.02983	0.03847309	0.05130	0.036075618	0.02983	-2.434	0.05346	T	.	.	0.077	0.06617	B	.	.	-1.626184	0.00227	0.003	0.5474027744689054	0.05198	0.00175	0.01031	N	AEFDBI	0.017532	0.00466	N	-1.72610739612194	0.00753	0.03252521	-1.7602329999907	0.00895	0.04002984	0.0959839688687745	0.16240	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	-6.33	0.01814	-4.305000	0.00292	.	.	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.5673:0.0:0.3205:0.1122	6.742	0.22626	711	0.56613	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	.	.	.	.	.	.	.	.	0.02632	1734.33	36	chr1	227816191	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.488;DP=831;ExcessHet=0;FS=6.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.06;SOR=0.868	GT:AD:DP:GQ:PL	0/1:56,72:128:99:1748,0,1229	18	0	1	0
chr1	228107996	228107996	C	T	exonic	MRPL55	.	nonsynonymous SNV	MRPL55:NM_181462:exon4:c.G115A:p.G39S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.0109824	0.0048	0.0261	0.0023	0.0115	0	0.0006	0	0.0026	0.0019663	304	154602	rs76046017	0.0013	0.0014	0.0014	0.0013	0.0240	0.0013	0.0013	0.0225	0.0220	0.0240	0.0019	0.0002	0.0104	0.0021	0.0014	0.0002	0.0024	0.0020	0.0074	0.0074	0.0069	0.0080	0.0230	0.0071	0.0069	0.0218	0.0213	0.0230	0	0.0025	0.0006	0.0148	0.0016	0.0034	0.0004	0.0043	0.0014	0.017	0.51248	D	0.445	0.13140	T	0.005	0.12996	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	0.5	0.02945	N	0.094	0.07398	-1.0458	0.15592	T	0.031	0.13461	T	8	0.0029313862	0.00047	T	.	.	.	0.033	0.08068	.	.	0.141422826196	0.13715	0.048411383104036886	0.04784	.	.	0.235130384564	0.02369	T	.	.	.	-0.666133	0.00058	T	-0.710033	0.05294	T	0.00495011123987803	0.00053	T	0.325967	0.06723	T	.	.	.	.	.	.	.	.	-3.792	0.20685	T	.	.	0.106	0.19679	B	.;.	.;.	0.021083	0.04431	1.161	0.89942019413271157	0.19239	0.02549	0.07075	N	AEFBCI	0.037708	0.05227	N	-1.04078027097669	0.07769	0.3620596	-1.17805764569616	0.06278	0.3016704	0.999587451601126	0.40607	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	1.27	0.337	0.15206	-2.420000	0.01109	-2.278000	0.03960	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7446:0.0:0.2554	3.630	0.07669	637	0.64373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.005155	0.005731	0.002994	0.000000	0.009434	0.003268	0.008000	0.02632	1245.33	41	chr1	228107996	.	C	T	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=713;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.777;SOR=0.88	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1259,0,906	18	0	1	0
chr1	230931417	230931417	C	T	exonic	TTC13	.	nonsynonymous SNV	TTC13:NM_001376509:exon7:c.G794A:p.S265N,TTC13:NM_001376514:exon7:c.G794A:p.S265N,TTC13:NM_001376508:exon8:c.G860A:p.S287N,TTC13:NM_001122835:exon9:c.G1022A:p.S341N,TTC13:NM_001376511:exon9:c.G1022A:p.S341N,TTC13:NM_001376512:exon9:c.G953A:p.S318N,TTC13:NM_001376507:exon10:c.G1088A:p.S363N,TTC13:NM_001376513:exon10:c.G1088A:p.S363N,TTC13:NM_001376510:exon11:c.G1181A:p.S394N,TTC13:NM_024525:exon11:c.G1181A:p.S394N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0333854769429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.073	0.51421	T	0.893	0.50927	P	0.368	0.43478	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.41	0.12415	N	1.16	0.60361	T	-1.84	0.43149	N	0.637	0.64989	-0.5320	0.67465	T	0.278	0.65007	T	10	0.46691078	0.59626	T	0.033385	0.54945	D	0.116	0.32463	0.411	0.44723	0.321697908245	0.31786	0.6917932731966947	0.69119	0.266466125638	0.29189	0.845442771912	0.88925	D	0.031579	0.22107	T	-0.00897401	0.50411	T	-0.250667	0.49750	T	0.851993083953857	0.50338	D	0.917108	0.70302	D	0.36755747	0.58404	0.37084377	0.62325	0.36755747	0.58405	0.37084377	0.62325	-9.545	0.73238	D	.	.	0.748	0.74965	P	.;.	.;.	4.563922	0.71947	25.8	0.9940352094880337	0.62934	0.96741	0.70691	D	AEFBI	0.667107	0.63534	D	0.472261879452317	0.65477	4.827383	0.556456088859597	0.71847	5.717764	0.999999999985018	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	6.080000	0.70936	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.992	0.97372	845	0.36510	Tetratricopeptide 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	1013.33	33	chr1	230931417	.	C	T	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=738;ExcessHet=0;FS=1.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.552;SOR=0.944	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1027,0,1249	18	0	1	0
chr1	246565949	246565949	C	T	exonic	TFB2M	.	nonsynonymous SNV	TFB2M:NM_022366:exon1:c.G190A:p.A64T	.	427	1073	22	0	0	22	0.0101476	.	.	.	2812927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	.	0.0051	0.00279553	0.0049	0.0014	0.0033	0	0	0.0077	0.0055	0.0015	0.0049935	772	154602	rs143880306	0.0061	0.0061	0.0061	0.0061	0.0116	0.0060	0.0059	0.0094	0.0086	0.0008	0.0052	0.0167	2.519e-05	0.0003	0.0116	0.0068	0.0068	0.0021	0.0052	0.0052	0.0056	0.0047	0.0080	0.0049	0.0047	0.0075	0.0072	0.0013	0	0.0069	0.0141	0	9.407e-05	0.0136	0.0080	0.0080	0.0015	0.734	0.03764	T	0.635	0.07082	T	0.012	0.16265	B	0.002	0.06944	B	0.000171	0.00496	N	5.143560	1	0.08975	N	0.14	0.08730	N	1.56	0.29602	T	0.47	0.03090	N	0.091	0.06990	-1.0424	0.16592	T	0.018	0.07612	T	10	0.0036287904	0.00066	T	.	.	.	0.008	0.00669	.	.	0.222439326576	0.21863	0.15439860749502873	0.15360	0.14952211218	0.16857	0.292847573757	0.09338	T	0.00736	0.06771	T	-0.726497	0.00025	T	-0.806944	0.01735	T	0.00479200860353576	0.00051	T	0.382862	0.09330	T	0.038390636	0.05105	0.056171395	0.09989	0.038390636	0.05105	0.056171395	0.09988	-3.162	0.12022	T	.	.	0.071	0.03887	B	.	.	-0.530602	0.01771	0.135	0.75541091354571388	0.11115	0.00807	0.03278	N	ALL	0.045230	0.07374	N	-1.7749125845375	0.00609	0.02626836	-1.8661776440371	0.00570	0.02528334	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.95	-7.9	0.01035	-1.432000	0.02536	-1.696000	0.04897	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2046:0.1359:0.3048:0.3547	1.055	0.01488	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.004076	0.000000	0.050000	0.000000	0.015244	0.000000	0.02632	2280.33	35	chr1	246565949	.	C	T	2280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.096;DP=816;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.492;SOR=0.774	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2294,0,2084	18	0	1	0
chr1	246987437	246987437	C	T	exonic	ZNF695	.	nonsynonymous SNV	ZNF695:NM_020394:exon4:c.G1078A:p.A360T	.	411	1107	3	1	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00430426790405	.	0.000998403	0.0022	0.0003	0.0012	0	0	0.0037	0.0011	6.17e-05	0.0020116	311	154602	rs61753584	0.0046	0.0046	0.0047	0.0045	0.0057	0.0045	0.0045	0.0056	0.0056	0.0009	0.0017	0.0001	2.521e-05	0.0004	0.0035	0.0057	0.0030	0.0002	0.0023	0.0023	0.0025	0.0021	0.0042	0.0021	0.0020	0.0038	0.0036	0.0007	0	0.0020	0.0003	0	9.436e-05	0	0.0042	0.0024	0	0.026	0.46910	D	0.137	0.33894	T	0.107	0.26081	B	0.02	0.19048	B	.	.	.	.	1	0.81001	D	-0.085	0.04774	N	5.62	0.00808	T	-3.59	0.69236	D	0.047	0.01911	-0.9108	0.46756	T	0.002	0.00556	T	9	0.0054905117	0.00121	T	0.004304	0.10435	T	0.019	0.03383	.	.	0.0297737177859	0.01360	0.003443887840653047	0.00321	0.24324625956	0.26827	0.286855638027	0.08466	T	0.043238	0.26436	T	-0.689423	0.00042	T	-0.763366	0.02993	T	0.0264986625517585	0.01474	T	0.0522948	0.00374	T	0.17026795	0.37592	0.2151155	0.46088	0.17026795	0.37592	0.2151155	0.46087	-5.537	0.42213	T	.	.	0.145	0.32054	B	.	.	1.976149	0.25106	16.64	0.98953181423513981	0.49170	0.00001	0.00044	N	AEFDBHCI	0.056442	0.10434	N	-1.17439710681394	0.05389	0.2455678	-1.21250645463881	0.05708	0.2727427	0.00182814314398539	0.08920	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	0.489	0.489	0.16063	-2.311000	0.01209	-20.000000	0.00162	0.243000	0.18268	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.0:0.6151:0.0:0.3849	2.875	0.05283	844	0.36711	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	0.004536	0.010101	0.004076	0.011696	0.050000	0.000000	0.000000	0.000000	0.02632	775.33	33	chr1	246987437	.	C	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.784;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=1.82;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27:54:99:0|1:246987437_C_T:789,0,793:246987437	18	0	1	0
chr1	247605780	247605780	C	A	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C195A:p.N65K	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00539107393496	0.0046	0.00239617	0.0036	0.0022	0.0008	0	0.0041	0.0052	0.0022	0.0018	0.003454	534	154602	rs144188677	0.0044	0.0044	0.0044	0.0044	0.0054	0.0043	0.0043	0.0049	0.0048	0.0018	0.0020	0.0055	2.519e-05	0.0038	0.0054	0.0050	0.0037	0.0018	0.0035	0.0035	0.0036	0.0033	0.0043	0.0032	0.0031	0.0038	0.0037	0.0021	0	0.0043	0.0072	0	0.0038	0.0238	0.0042	0.0052	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.955	0.54515	P	0.717	0.54739	P	0.184667	0.17009	U	0.414645	0.833276	0.28731	N	2.455	0.71248	M	2.64	0.12780	T	-5.01	0.82450	D	0.242	0.27316	-0.9114	0.46682	T	0.075	0.30210	T	10	0.010586411	0.00235	T	0.005391	0.13832	T	0.089	0.25827	0.706	0.84236	0.384252928164	0.38032	0.47441216480303716	0.47360	0.280402639515	0.30520	0.269953638315	0.06135	T	0.113195	0.43004	T	-0.500059	0.00571	T	-0.490123	0.23379	T	0.0355344607834546	0.02899	T	0.40306	0.10319	T	0.7215907	0.79250	0.78552395	0.87368	0.7215907	0.79251	0.78552395	0.87369	-7.974	0.60892	D	.	.	0.43	0.61192	A	.	.	1.886663	0.23966	16.22	0.9975507328349964	0.84615	0.14311	0.18335	N	AEFI	0.139604	0.26125	N	0.22960980689328	0.52638	3.436781	0.0607413679669384	0.42593	2.578999	1.15439266639014E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.79	3.79	0.42757	-0.469000	0.06725	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.775000	0.36711	0.0:1.0:0.0:0.0	13.565	0.61273	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.010870	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	4331.33	33	chr1	247605780	.	C	A	4331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=1446;ExcessHet=0;FS=6.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.023;SOR=0.785	GT:AD:DP:GQ:PL	0/1:155,166:321:99:4345,0,3913	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	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	0/1:41,18:59:71:.:.:71,0,543:.	2	0	17	0
chr2	24121202	24121202	T	G	exonic	PFN4	.	nonsynonymous SNV	PFN4:NM_199346:exon3:c.A216C:p.R72S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0306679081274	0.0005	.	0.0004	0	0.0007	0	0	0.0007	0	0	0.0003687	57	154602	rs142176262	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0086	0	0	0.0003	9.802e-05	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	8.878e-05	5.387e-05	0	0	0.0003	0.0075	0	0	0	0.0001	0.0010	0	0.021	0.49117	D	0.471	0.12211	T	0.011	0.15914	B	0.014	0.16862	B	0.091119	0.20342	N	0.513463	0.997809	0.22499	N	0.69	0.16971	N	-1.93	0.84842	D	-1.22	0.30964	N	0.435	0.47395	-0.8063	0.54772	T	0.327	0.69495	T	10	0.014494866	0.00305	T	0.030668	0.52928	D	0.224	0.52174	0.498	0.58835	0.703139816682	0.70056	0.5025346690612476	0.50175	0.069265870109	0.07753	0.284439861774	0.08119	T	0.304672	0.67696	T	-0.237372	0.15686	T	-0.250784	0.49740	T	0.0591080878091449	0.07028	T	0.694431	0.30396	T	0.1923194	0.40896	0.16400231	0.38016	0.1923194	0.40896	0.16400231	0.38015	-2.965	0.09809	T	.	.	0.178	0.38906	B	.	.	3.066543	0.41201	21.3	0.98923198075856966	0.48602	0.80602	0.40197	D	AEFDBCI	0.273560	0.38894	N	-0.251783153321923	0.31033	1.73609	-0.0340731521547473	0.38185	2.24626	0.778872906861245	0.23803	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.421255	0.06892	1	.	.	5.63	4.45	0.53365	1.244000	0.32381	1.795000	0.28833	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0893:0.0:0.9107	8.723	0.33613	301	0.87912	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1432.33	39	chr2	24121202	.	T	G	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=789;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.326;SOR=0.595	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1446,0,1923	18	0	1	0
chr2	27607891	27607891	T	C	exonic	ZNF512	.	nonsynonymous SNV	ZNF512:NM_001271286:exon9:c.T896C:p.M299T,ZNF512:NM_001271287:exon9:c.T752C:p.M251T,ZNF512:NM_001271288:exon9:c.T752C:p.M251T,ZNF512:NM_001271289:exon9:c.T668C:p.M223T,ZNF512:NM_032434:exon10:c.T983C:p.M328T,ZNF512:NM_001271318:exon11:c.T752C:p.M251T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00209600798692	.	.	3.3e-05	0	0	0	0	3.001e-05	0	0.0001	2.59e-05	4	154602	rs751234506	3.01e-05	3.01e-05	2.178e-05	3.85e-05	0.0003	2.282e-05	2.032e-05	0.0002	0.0002	0	0	0	0	0	0	1.888e-05	0	0.0003	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.557	0.07720	T	0.593	0.08302	T	0.004	0.12183	B	0.002	0.06944	B	0.215728	0.16258	N	0.635243	0.999994	0.08975	N	0.345	0.11182	N	.	.	.	-1.35	0.33598	N	0.247	0.30461	-1.0511	0.14092	T	0.060	0.25127	T	9	0.046151757	0.03772	T	0.002096	0.03855	T	0.040	0.10527	0.331	0.31681	0.043077524339	0.03247	0.420367382004888	0.41952	0.628620718257	0.56926	0.482487559319	0.36400	T	0.02234	0.30781	T	-0.239267	0.15442	T	-0.378813	0.35862	T	0.0614905965571916	0.07402	T	0.70293	0.31283	T	0.13125406	0.30600	0.07280249	0.15747	0.13125406	0.30600	0.07280249	0.15747	-2.345	0.06805	T	.	.	0.107	0.22609	B	.;.;.;.;.	.;.;.;.;.	2.446846	0.31499	18.76	0.85840382265463366	0.16145	0.67268	0.33371	D	AEFDBI	0.102541	0.20566	N	-0.326232747042837	0.28154	1.550616	-0.124067992234198	0.34421	1.979865	0.257576151415609	0.18752	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	2.117000	0.41563	7.851000	0.70967	0.661000	0.55757	0.815000	0.29920	1.000000	0.68203	0.981000	0.58702	0.0:0.0836:0.0:0.9164	8.799	0.34057	46	0.97728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1771.33	35	chr2	27607891	.	T	C	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=794;ExcessHet=0;FS=1.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.653;SOR=0.522	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1785,0,2386	18	0	1	0
chr2	32220571	32220571	A	G	exonic	SLC30A6	.	nonsynonymous SNV	SLC30A6:NM_001330478:exon10:c.A653G:p.H218R,SLC30A6:NM_001330476:exon11:c.A1022G:p.H341R,SLC30A6:NM_001193514:exon13:c.A1175G:p.H392R,SLC30A6:NM_001193515:exon13:c.A1157G:p.H386R,SLC30A6:NM_001330477:exon13:c.A653G:p.H218R,SLC30A6:NM_001330479:exon14:c.A1097G:p.H366R,SLC30A6:NM_017964:exon14:c.A1244G:p.H415R,SLC30A6:NM_001193513:exon15:c.A1364G:p.H455R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0250413194455	.	0.000599042	0.0007	0	0	0.0012	0.0079	0.0003	0.0022	0.0001	0.0005821	90	154602	rs199629847	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0	0	7.653e-05	0.0007	0.0073	0.0002	7.374e-05	0.0003	0.0001	0.0007	0.0007	0.0004	0.0010	0.0006	0.0006	0.0006	0.0002	0.0002	0	0	0	0.0003	0.0006	0.0080	0	0.0003	0.0014	0	0.297	0.16358	T	0.197	0.31730	T	0.0	0.09854	B	0.002	0.12133	B	0.000006	0.62929	N	0.114253	0.785344	0.30329	N	0.55	0.14455	N	-1.0	0.76037	T	-1.26	0.35597	N	0.078	0.18784	-0.8826	0.49553	T	0.188	0.53856	T	10	0.006573975	0.00149	T	0.025041	0.48022	D	0.187	0.46274	.	.	0.383760037723	0.37989	0.6261512412673395	0.62548	0.0322257736927	0.03353	0.36988556385	0.20816	T	0.112134	0.42816	T	-0.348557	0.04819	T	-0.355238	0.38603	T	0.0303586214181415	0.02046	T	0.805919	0.45429	T	0.07196373	0.15972	0.06525835	0.13202	0.07196373	0.15972	0.06525835	0.13201	-2.912	0.09264	T	.	.	0.059	0.12276	B	.;.;.;.;.	.;.;.;.;.	2.191834	0.27947	17.63	0.9445927000002059	0.24896	0.95177	0.63722	D	AEFBI	0.395846	0.47255	N	-0.382785967660561	0.26083	1.420764	-0.18877515601902	0.31948	1.812848	0.124305445128313	0.16954	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	4.29	0.50359	4.289000	0.58806	7.075000	0.57453	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.8403:0.0:0.1597:0.0	8.677	0.33345	374	0.84073	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1901.33	33	chr2	32220571	.	A	G	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.375;DP=805;ExcessHet=0;FS=4.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=2.13;SOR=0.831	GT:AD:DP:GQ:PL	0/1:97,80:177:99:1915,0,2641	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	0/1:67,69:136:99:1684,0,1754	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	0/1:63,89:152:99:2243,0,1435	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	0/1:51,44:95:99:1077,0,1274	17	0	2	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	0/1:94,71:165:99:1729,0,2272	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	0/1:107,134:241:99:3335,0,2560	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	0/1:27,40:67:99:1026,0,583	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	0/1:89,84:173:99:2350,0,2225	15	0	4	0
chr2	70921196	70921196	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C346T:p.R116C	.	12	1507	2	1	0	4	0.00132538	.	.	.	2684500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.860	0.216486708072	0.0002	.	0.0002	0	8.664e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs145436494	7.938e-05	7.935e-05	6.808e-05	9.078e-05	0.0010	6.736e-05	6.269e-05	0.0005	0.0003	2.988e-05	0	3.827e-05	0	1.88e-05	0.0010	6.745e-05	9.936e-05	0.0003	9.849e-05	9.842e-05	6.424e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.001	0.83351	D	0.882	0.48483	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.97	0.96243	D	-6.0	0.89534	D	0.74	0.74007	0.988	0.96986	D	0.889	0.96322	D	10	0.8256893	0.81750	D	0.216487	0.87561	D	0.860	0.95728	.	.	0.999369179717	0.99936	0.4922512179309445	0.49146	0.308498618732	0.33160	0.528531312943	0.42827	T	0.797918	0.94816	D	0.250576	0.78655	D	0.422483	0.92825	D	0.264684487197718	0.23519	T	0.972503	0.90119	D	0.4977564	0.66963	0.4811754	0.69956	0.4977564	0.66964	0.4811754	0.69956	-11.307	0.81315	D	.	.	0.417	0.60485	A	.	.	5.450569	0.91046	32	0.99940738883005076	0.99797	0.90396	0.51538	D	AEFBI	0.592704	0.58831	D	0.541239083240704	0.69549	5.372938	0.555228828628594	0.71763	5.704477	0.999999113373154	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	2.153000	0.41907	3.931000	0.40536	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.752	0.85349	724	0.55085	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	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2045.33	42	chr2	70921196	.	C	T	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=900;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.439;SOR=0.538	GT:AD:DP:GQ:PL	0/1:92,79:171:99:2059,0,2389	18	0	1	0
chr2	73088530	73088530	G	A	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon3:c.C1088T:p.P363L,RAB11FIP5:NM_015470:exon3:c.C1088T:p.P363L	.	419	1097	6	0	0	6	0.00272727	.	.	.	3308540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0202232363663	.	.	0.0002	0	8.661e-05	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs201939228	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0001	0	0	0	0.0033	9.712e-05	0.0003	0.0018	0.0001	0.0001	8.988e-05	0.0002	0.0004	8.165e-05	6.722e-05	0.0001	8.283e-05	2.411e-05	0	0.0003	0	0	0	0.0032	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.02	0.18235	B	0.012	0.16012	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	0.3	0.58755	T	-5.41	0.85176	D	0.574	0.59648	-0.5232	0.67796	T	0.284	0.65567	T	10	0.05217597	0.05212	T	0.020223	0.42769	T	0.215	0.50805	0.267	0.21418	0.612129062911	0.60900	0.49523469877638576	0.49444	0.118568909948	0.13351	0.524407625198	0.42248	T	0.177135	0.85908	T	-0.293328	0.09304	T	-0.21875	0.52857	T	0.219044134020805	0.21416	T	0.766723	0.39447	T	0.33118635	0.55568	0.3176898	0.57742	0.33118635	0.55568	0.3176898	0.57741	-2.625	0.06695	T	.	.	0.101	0.19559	B	.;.	.;.	3.619786	0.51223	23.1	0.99735094467945895	0.83047	0.95398	0.64564	D	AEFBI	0.277068	0.39166	N	-0.14979531714233	0.35243	2.021862	-0.241825825984249	0.30054	1.688906	0.999999941322968	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	4.13	3.24	0.36257	5.886000	0.69487	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0955:0.0:0.9045:0.0	10.811	0.45749	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1404.33	34	chr2	73088530	.	G	A	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.09;DP=754;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.1;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1418,0,1893	18	0	1	0
chr2	85322677	85322677	C	T	exonic	TGOLN2	.	unknown	UNKNOWN	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0	0.0007	0.0003687	57	154602	rs150874201	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	6.036e-05	0.0001	0	2.542e-05	1.88e-05	0.0009	0.0005	0.0003	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0004	0.0004	0.0004	0.0001	0.0362	0.0003	0	0.0002	9.443e-05	0	0.0005	0	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	1118.33	63	chr2	85322677	.	C	T	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=761;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.694;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1132,0,1280	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,18:232:99:0|1:94876587_C_A:112,0,8871:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,51:336:99:0|1:94876587_C_A:1284,0,11814:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,66:369:99:0|1:94876587_C_A:1839,0,12469:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,77:458:99:0|1:94876671_A_G:2076,0,15547:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,78:460:99:0|1:94876671_A_G:2095,0,15580:94876671	2	0	17	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	0/1:375,55:430:99:.:.:476,0,9595:.	3	0	16	0
chr2	95150133	95150133	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G571A:p.G191S,ZNF514:NM_032788:exon5:c.G352A:p.G118S	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00223007863182	0.0022	0.00119808	0.0029	0.0007	0.0021	0	0.0056	0.0037	0.0044	0.0019	0.0028137	435	154602	rs151077080	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0011	0	0.0046	0.0017	0.0035	0.0027	0.0020	0.0023	0.0023	0.0023	0.0024	0.0034	0.0021	0.0020	0.0031	0.0029	0.0006	0	0.0008	0.0023	0	0.0051	0	0.0034	0.0009	0.0029	0.208	0.19782	T	0.451	0.12920	T	0.034	0.20480	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.57	0.04645	T	1.54	0.00702	N	0.048	0.01999	-0.9680	0.37612	T	0.014	0.05465	T	9	0.006148815	0.00138	T	0.00223	0.04233	T	0.012	0.01476	.	.	0.141422826196	0.13715	0.02770498026431738	0.02720	0.0396205225071	0.04231	0.246488302946	0.03407	T	0.013314	0.11540	T	-0.701883	0.00036	T	-0.780029	0.02452	T	0.000867880939040333	0.00008	T	0.339066	0.07293	T	0.018181358	0.00339	0.03133039	0.01706	0.018181358	0.00339	0.03133039	0.01705	-5.765	0.44268	T	.	.	0.084	0.09481	B	.;.	.;.	0.555394	0.09238	6.022	0.63366756943036573	0.07205	0.00097	0.00633	N	AEFBCI	0.043966	0.07015	N	-1.2406463053428	0.04424	0.1996404	-1.3349206712708	0.03986	0.1871118	0.0027188511871545	0.09654	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.18	-0.612	0.11016	-0.682000	0.05286	-0.860000	0.07144	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5769:0.0:0.4231	7.430	0.26292	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2161.33	33	chr2	95150133	.	C	T	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=965;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.594;SOR=0.599	GT:AD:DP:GQ:PL	0/1:107,88:195:99:2175,0,2512	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	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	0/1:178,55:233:99:1210,0,4676	0	0	19	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	0/1:202,119:321:99:2463,0,5403	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	0/1:194,75:269:99:1884,0,5501	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	0/1:230,33:263:99:469,0,9150	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	0/1:197,60:257:99:1480,0,5567	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:80,10:90:99:175,0,3262	6	0	13	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|1:105,37:142:99:0|1:95859969_A_AT:1176,0,4270:95859969	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|1:105,37:142:99:0|1:95859969_A_AT:1176,0,4270:95859969	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|1:107,34:141:99:0|1:95859969_A_AT:1106,0,4323:95859969	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	0/1:100,34:134:99:1128,0,2621	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|1:94,33:127:99:0|1:95860002_T_A:1103,0,3741:95860002	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|1:89,33:122:99:0|1:95860002_T_A:1118,0,3607:95860002	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|1:79,27:106:99:0|1:95860020_G_A:896,0,3216:95860020	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|1:79,26:105:99:0|1:95860020_G_A:854,0,3219:95860020	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	0/1:75,18:93:99:531,0,2127	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|1:114,22:136:99:0|1:95927222_G_GAT:581,0,4721:95927222	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|1:124,33:157:99:0|1:95927222_G_GAT:1012,0,5107:95927222	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|1:130,44:174:99:0|1:95927222_G_GAT:1456,0,5326:95927222	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|1:153,84:237:99:0|1:95927222_G_GAT:3067,0,6172:95927222	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|1:167,118:285:99:0|1:95927222_G_GAT:4401,0,6612:95927222	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|1:170,121:291:99:0|1:95927222_G_GAT:4457,0,6654:95927222	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|1:113,51:164:99:0|1:95929092_T_C:1736,0,4540:95929092	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|1:144,66:210:99:0|1:95929092_T_C:2338,0,5848:95929092	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|1:166,84:250:99:0|1:95929092_T_C:3027,0,6717:95929092	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|1:171,90:261:99:0|1:95929092_T_C:3264,0,6909:95929092	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|1:172,98:270:99:0|1:95929092_T_C:3567,0,6927:95929092	0	0	19	0
chr2	96689738	96689738	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon26:c.G2620A:p.A874T	.	385	1098	37	2	0	41	0.0183281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0007	0.00219649	0.0057	0.0005	0	0.0017	0	0.0024	0.0172	0.0112	0.0007956	123	154602	rs200820148	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0093	0.0002	0.0009	0.0092	0.0004	2.055e-05	0.0061	0.0002	0.0019	0.0102	0.0008	0.0008	0.0005	0.0010	0.0099	0.0006	0.0006	0.0077	0.0069	0.0003	0	0.0010	0.0049	0.0004	0	0.0034	0.0002	0.0019	0.0099	.	.	.	0.2	0.33894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.10198	-0.9879	0.33126	T	0.089	0.34353	T	7	0.0031657815	0.00053	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.46933288399365947	0.46852	.	.	0.283456027508	0.07980	T	.	.	.	-0.517655	0.00454	T	-0.508391	0.21481	T	0.00570861671985965	0.00062	T	0.624238	0.24084	T	0.022747038	0.00960	0.11416561	0.27556	0.022747038	0.00960	0.11416561	0.27556	-4.91	0.35847	T	.	.	0.081	0.12655	B	.;.;.;.	.;.;.;.	1.528673	0.19615	14.35	0.7415529009742533	0.10590	0.16561	0.19446	N	AEFDBI	.	.	.	-0.952372442010241	0.09640	0.4570959	-0.939041153051163	0.11178	0.5678947	0.251354163830948	0.18683	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.295875	0.34619	5.28	3.49	0.39065	-0.153000	0.10130	1.816000	0.29002	-0.143000	0.12349	0.000000	0.06391	0.009000	0.19889	0.062000	0.16114	0.1711:0.0:0.6693:0.1596	5.365	0.15410	189	0.92630	Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin 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	0.007712	0.000000	0.000000	0.004505	0.083333	0.041667	0.027397	0.011905	0.02632	580.33	36	chr2	96689738	.	G	A	580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.188;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.686;SOR=0.869	GT:AD:DP:GQ:PL	0/1:20,25:45:99:594,0,488	18	0	1	0
chr2	96861872	96861872	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon13:c.G1466A:p.R489H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00759029788918	.	.	1.083e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs779891089	6.853e-06	6.84e-06	6.818e-06	6.889e-06	5.399e-06	3.47e-06	2.53e-06	1.94e-06	1.28e-06	0	0	3.833e-05	0	0	0	5.399e-06	4.975e-05	0	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	0.531	0.07002	T	0.545	0.09588	T	0.004	0.12183	B	0.002	0.06944	B	0.008098	0.31024	N	0.318421	0.99951	0.47363	D	0.69	0.16971	N	1.53	0.30401	T	-0.05	0.07736	N	0.221	0.24758	-1.0887	0.05752	T	0.043	0.18576	T	10	0.052056104	0.05182	T	0.00759	0.20139	T	0.021	0.04004	0.435	0.48664	0.138757226776	0.13463	0.5235242594536705	0.52276	0.357119935229	0.37442	0.231879174709	0.02110	T	0.082023	0.36733	T	-0.384965	0.02897	T	-0.604848	0.12406	T	0.0544302017820455	0.06262	T	0.221078	0.02846	T	0.02840371	0.02172	0.025984703	0.00665	0.02840371	0.02171	0.025984703	0.00665	-2.631	0.06742	T	.	.	0.075	0.05360	B	.	.	2.049495	0.26056	16.98	0.89397541995882523	0.18762	0.59177	0.30843	D	AEFDBCI	0.123820	0.23960	N	-0.894033580014989	0.10983	0.527665	-0.773488925662589	0.15146	0.7951203	0.999299134858588	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.93	3.16	0.35406	1.021000	0.29642	-0.135000	0.11577	-0.800000	0.03169	0.020000	0.19661	0.153000	0.23196	0.387000	0.26492	0.0:0.6506:0.0:0.3494	6.676	0.22285	115	0.95340	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	.	.	.	.	.	.	.	.	0.02632	373.33	36	chr2	96861872	.	C	T	373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.198;SOR=0.701	GT:AD:DP:GQ:PL	0/1:29,15:44:99:387,0,761	18	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,17:121:99:0|1:97185336_GC_G:401,0,4316:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,17:122:99:0|1:97185336_GC_G:398,0,4358:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,17:122:99:0|1:97185336_GC_G:398,0,4358:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,17:126:99:0|1:97185336_GC_G:386,0,4522:97185336	2	0	17	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,9:116:16:0|1:97243989_C_T:16,0,4466:97243989	7	0	12	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|1:107,79:186:99:0|1:97513219_T_C:2995,0,4255:97513219	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|1:114,85:199:99:0|1:97513219_T_C:3217,0,4531:97513219	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|1:124,105:229:99:0|1:97513244_G_T:4036,0,4789:97513244	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|1:124,113:237:99:0|1:97513244_G_T:4331,0,4840:97513244	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|1:124,113:237:99:0|1:97513244_G_T:4331,0,4840:97513244	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|1:131,125:256:99:0|1:97513268_C_T:4854,0,5124:97513268	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|1:131,126:257:99:0|1:97513268_C_T:4896,0,5121:97513268	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|1:132,127:259:99:0|1:97513268_C_T:4915,0,5140:97513268	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|1:131,129:260:99:0|1:97513268_C_T:4962,0,5052:97513268	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	0/1:91,63:154:99:1362,0,2172	0	0	19	0
chr2	97545720	97545720	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon24:c.G1627A:p.D543N	.	631	878	2	11	0	24	0.0134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0401358	0.0032	0.0099	0.0011	0.0021	0.0014	0.0045	0	8.249e-05	0.0049353	763	154602	rs202068566	0.0015	0.0079	0.0015	0.0015	0.0101	0.0015	0.0014	0.0091	0.0088	0.0101	0.0003	0	0	0.0412	0	2.835e-05	0.0008	7.536e-05	0.0038	0.0045	0.0043	0.0034	0.0108	0.0035	0.0034	0.0099	0.0095	0.0108	0	0.0008	0	0	0.0005	0	5.603e-05	0.0030	0.0002	.	.	.	0.173	0.30143	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.695	0.17993	N	.	.	.	.	.	.	0.398	0.43899	.	.	.	.	.	.	.	0.005491048	0.00121	T	.	.	.	.	.	.	.	0.185906805712	0.18197	4.16050493205468E-4	0.00037	.	.	0.743850827217	0.73540	T	0.023296	0.17808	T	-0.0319045	0.47140	T	-0.283605	0.46435	T	.	.	.	0.557944	0.24174	T	0.05115556	0.09351	0.0730632	0.15835	0.05115556	0.09350	0.0730632	0.15835	-5.803	0.44600	T	.	.	0.114	0.31882	B	.;.;.	.;.;.	2.046137	0.26014	16.97	0.3368146854038564	0.02019	0.02506	0.06996	N	AEFBI	.	.	.	.	.	.	.	.	.	3.35830703131488E-4	0.06583	0.074898	0.01738	0	0.063388	0.01293	0	0.063197	0.01477	0	0.088406	0.02457	0	0.0489367	0.08445	0.882	0.882	0.18306	1.688000	0.37308	-0.373000	0.09593	0.564000	0.28548	0.772000	0.29380	0.000000	0.08366	0.010000	0.09038	0.0:1.0:0.0:0.0	5.059	0.13883	334	0.86273	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009259	0.013889	0.004983	0.000000	0.000000	0.010638	0.033613	0.004348	0.1176	156.02	33	chr2	97545720	.	C	T	156.02	.	AC=4;AF=0.118;AN=34;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=0.9334;MLEAC=3;MLEAF=0.088;MQ=29.46;QD=26;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,3:3:9:101,9,0	15	2	0	2
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	0/1:94,77:171:99:1923,0,2328	17	0	2	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.57	33	chr2	106423468	.	G	A	31.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.13;DP=1127;ExcessHet=0.119;FS=14.106;InbreedingCoeff=-0.0701;MLEAC=2;MLEAF=0.056;MQ=29.14;MQRankSum=0.954;QD=0.28;ReadPosRankSum=-2.58;SOR=3.208	GT:AD:DP:GQ:PL	0/1:51,7:58:20:20,0,1469	16	0	2	1
chr2	107871305	107871305	C	T	exonic	RGPD4	.	stopgain	RGPD4:NM_182588:exon20:c.C3301T:p.R1101X	.	139	1382	1	0	0	1	0.000361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	5.145e-05	0.0001	8.69e-05	0.0001	0	4.696e-05	0	0	3.84e-05	1	26028	rs556511922	2.329e-05	2.326e-05	2.59e-05	2.066e-05	0.0002	1.677e-05	1.48e-05	0.0001	7.817e-05	2.995e-05	0.0002	0	7.557e-05	0	0	1.889e-05	0	0	4.141e-05	3.958e-05	4.018e-05	4.272e-05	0.0002	1.787e-05	1.176e-05	5.588e-05	3.019e-05	2.651e-05	0	0.0002	0	0	0	0	2.992e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.207	0.22998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32575	0.84874	D	0.49944	0.94603	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.945602	0.97018	36	0.99638239397961981	0.76510	0.66703	0.33171	D	AEFI	0.259361	0.37772	N	0.18881935900764	0.50664	3.254138	-0.100047049087459	0.35390	2.046832	1.10332200590765E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.33	-0.118	0.12887	1.708000	0.37518	1.108000	0.24132	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.217000	0.22379	0.534:0.466:0.0:0.0	8.471	0.32148	963	0.08280	Ran binding domain|Ran binding domain|Ran binding 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	3007.33	221	chr2	107871305	.	C	T	3007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=2726;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.46;MQRankSum=-3.041;QD=10.82;ReadPosRankSum=1.42;SOR=0.537	GT:AD:DP:GQ:PL	0/1:150,128:278:99:3021,0,3410	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,74:168:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:5917,3041,3833:108259008	6	3	9	1
chr2	108781340	108781340	G	A	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon26:c.G8671A:p.G2891S	.	0	1517	5	0	0	5	0.00164528	.	.	.	516295	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00259585	0.0011	0.0002	0.0006	0.0003	0	6.003e-05	0	0.0069	0.0009767	151	154602	rs376940698	0.0005	0.0005	0.0003	0.0008	0.0069	0.0005	0.0005	0.0065	0.0063	5.974e-05	0.0007	0.0004	0.0019	1.872e-05	0.0005	2.878e-05	0.0006	0.0069	0.0004	0.0004	0.0002	0.0006	0.0077	0.0003	0.0003	0.0057	0.0050	4.814e-05	0	0.0002	0.0012	0.0012	0	0	4.411e-05	0.0005	0.0077	0.58	0.05992	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.5	0.00507	N	1.74	0.26301	T	1.21	0.01064	N	0.094	0.07398	-0.9620	0.38800	T	0.013	0.05033	T	9	0.0043631196	0.00089	T	.	.	.	0.021	0.04004	.	.	0.15499578495	0.15088	0.09860042773383884	0.09791	0.351519266258	0.36992	0.279061615467	0.07362	T	0.114437	0.43226	T	-0.687151	0.00043	T	-0.757071	0.03218	T	0.00417180793140321	0.00044	T	0.155884	0.01367	T	0.019634185	0.00498	0.034645382	0.02569	0.019634185	0.00497	0.034645382	0.02568	-2.311	0.04615	T	0.04573714328647655	0.00598	0.069	0.03231	B	.	.	0.313853	0.06887	3.424	0.19921633511793266	0.00694	0.03404	0.08522	N	AEFBI	0.032487	0.03680	N	-1.56708925986297	0.01437	0.06268964	-1.44026719315202	0.02859	0.1323192	0.996104888014782	0.34527	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	0.789	0.17750	0.615000	0.24023	0.819000	0.21831	-0.292000	0.06281	0.004000	0.16614	0.008000	0.19753	0.206000	0.22070	0.5584:0.2406:0.201:0.0	5.699	0.17144	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	416.33	33	chr2	108781340	.	G	A	416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=663;ExcessHet=0;FS=1.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.578;SOR=0.914	GT:AD:DP:GQ:PL	0/1:32,17:49:99:430,0,742	18	0	1	0
chr2	112389647	112389647	G	A	exonic	RGPD5;RGPD8	.	stopgain	RGPD8:NM_001164463:exon20:c.C3298T:p.R1100X,RGPD5:NM_005054:exon20:c.C3298T:p.R1100X	.	139	1382	1	0	0	1	0.000361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448577135	8.292e-06	1.368e-05	9.624e-06	6.946e-06	9.013e-06	4.42e-06	3.49e-06	4.56e-06	3.32e-06	0	0	0	0	0	0	9.013e-06	3.331e-05	0	1.412e-05	1.988e-05	1.365e-05	1.463e-05	3.078e-05	2.35e-06	8.8e-07	5.11e-06	1.91e-06	0	0	0	0	0	0	0	3.078e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.474	0.50958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353232	0.86726	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.605960	0.96685	36	0.99558902439723906	0.71645	0.70352	0.34555	D	AEFI	0.178879	0.30616	N	0.271184720850043	0.54692	3.634344	0.00428280944829224	0.39914	2.373816	1.10835367914579E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.3	-0.183	0.12631	2.499000	0.45032	-2.767000	0.03382	0.299000	0.18918	1.000000	0.71638	0.000000	0.08366	0.891000	0.42908	0.0:0.0:0.3613:0.6386	7.110	0.24564	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding 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	419.33	225	chr2	112389647	.	G	A	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.665;DP=3919;ExcessHet=0;FS=13.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.82;MQRankSum=-4.162;QD=1.47;ReadPosRankSum=0.847;SOR=1.736	GT:AD:DP:GQ:PL	0/1:241,44:285:99:433,0,6095	18	0	1	0
chr2	119681416	119681416	A	G	exonic	TMEM177	.	nonsynonymous SNV	TMEM177:NM_001105198:exon2:c.A563G:p.K188R,TMEM177:NM_001105199:exon2:c.A563G:p.K188R,TMEM177:NM_030577:exon2:c.A563G:p.K188R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0312119814058	.	.	1.656e-05	0	8.663e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs748992087	8.894e-06	8.893e-06	8.169e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0.0002	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.06	0.45744	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	2.93	0.84523	M	0.67	0.52187	T	-0.94	0.25118	N	0.55	0.57604	-0.4570	0.70168	T	0.289	0.66065	T	10	0.7250259	0.73916	D	0.031212	0.53345	D	0.332	0.65424	0.684	0.82175	0.478068462777	0.47436	0.4432242420443288	0.44240	0.191067036934	0.21425	0.723685443401	0.70584	T	0.09001	0.38494	T	-0.134704	0.30738	T	-0.205567	0.54117	T	0.358111935549107	0.27335	T	0.568943	0.20238	T	0.123382	0.28974	0.12228351	0.29499	0.123382	0.28974	0.12228351	0.29498	-3.197	0.12444	T	.	.	0.095	0.15115	B	.;.;.	.;.;.	3.739344	0.53540	23.4	0.99818909756807939	0.90238	0.97220	0.73400	D	AEFDBCI	0.896147	0.83692	D	0.610542781233267	0.73841	6.032406	0.502284022824778	0.68143	5.179738	0.999999999840116	0.74766	0.706548	0.73137	0	0.71359	0.82159	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	8.322000	0.89915	10.386000	0.83314	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	1.0:0.0:0.0:0.0	12.051	0.52806	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	723.33	46	chr2	119681416	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=1832;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.818;SOR=0.479	GT:AD:DP:GQ:PL	0/1:57,28:85:99:737,0,1719	18	0	1	0
chr2	130153842	130153842	G	C	exonic	SMPD4	.	nonsynonymous SNV	SMPD4:NM_001171083:exon14:c.C1564G:p.L522V,SMPD4:NM_017751:exon16:c.C1783G:p.L595V,SMPD4:NM_017951:exon17:c.C1870G:p.L624V	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0119729062107	.	.	8.267e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs759061621	8.21e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	5.396e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.46129	D	0.017	0.60972	D	.	.	.	.	.	.	0.013179	0.28928	N	0.342226	0.990251	0.41120	D	.	.	.	.	.	.	-1.52	0.44094	N	0.358	0.41754	-0.7905	0.55700	T	0.208	0.56771	T	9	0.25055614	0.42384	T	0.011973	0.30115	T	0.078	0.22779	.	.	0.427139414373	0.42328	0.3294470051070983	0.32857	3.09917820347	0.99381	0.450773596764	0.32050	T	0.119003	0.44023	T	-0.188878	0.22424	T	-0.327559	0.41741	T	0.296390239449918	0.24854	T	0.970303	0.89317	D	0.09081923	0.21264	0.090918116	0.21348	0.09081923	0.21264	0.090918116	0.21347	-4.4	0.29557	T	0.4678728360297895	0.54886	0.110	0.28863	B	.;.;.;.;.	.;.;.;.;.	2.261700	0.28903	17.95	0.99602943423670021	0.74338	0.88461	0.48399	D	AEFDBCI	0.447838	0.50331	N	0.0606023974084172	0.44630	2.733668	-0.0119930329957525	0.39171	2.318599	0.00167795271748688	0.08770	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	2.06	0.25932	2.041000	0.40834	.	.	-0.234000	0.07639	1.000000	0.71638	0.986000	0.30841	0.036000	0.13842	0.3339:0.0:0.6661:0.0	5.441	0.15809	982	0.03397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2234.33	34	chr2	130153842	.	G	C	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=861;ExcessHet=0;FS=3.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.83;MQRankSum=-4.311;QD=11.23;ReadPosRankSum=0.308;SOR=0.935	GT:AD:DP:GQ:PL	0/1:102,97:199:99:2248,0,2374	18	0	1	0
chr2	134953452	134953452	A	G	exonic	CCNT2	.	nonsynonymous SNV	CCNT2:NM_001241:exon9:c.A997G:p.M333V,CCNT2:NM_058241:exon9:c.A997G:p.M333V,CCNT2:NM_001320748:exon10:c.A565G:p.M189V,CCNT2:NM_001320749:exon10:c.A472G:p.M158V	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	7.7e-05	0.00219649	0.0011	0.0002	0	0.0007	0	9.876e-05	0	0.0071	0.0009444	146	154602	rs377180297	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	0.0002	4.473e-05	0	0.0004	0	0.0016	7.286e-05	0.0005	0.0063	0.0004	0.0004	0.0002	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	0.0002	0	0	0	0.0006	0	0	8.819e-05	0	0.0087	1.0	0.00964	T	0.424	0.15456	T	0.0	0.02946	B	0.0	0.01387	B	0.447441	0.12550	N	0.787370	1	0.08975	N	0	0.06538	N	2.05	0.20664	T	0.06	0.06253	N	0.056	0.02759	-1.0568	0.12569	T	0.015	0.06234	T	10	0.002007991	0.00028	T	.	.	.	0.030	0.07022	.	.	0.236890367714	0.23314	0.30673898240813696	0.30586	0.0983630218035	0.11110	0.249537572265	0.03719	T	0.086407	0.37718	T	-0.721361	0.00027	T	-0.806211	0.01752	T	0.00807758681216015	0.00096	T	0.49985	0.15613	T	0.040594198	0.05823	0.042638987	0.05124	0.040594198	0.05823	0.042638987	0.05124	-2.853	0.09590	T	.	.	0.049	0.00120	B	.;.	.;.	-1.781816	0.00163	0.002	0.39634167417772453	0.02747	0.14321	0.18341	N	AEFGBCI	0.040615	0.06065	N	-1.98801825991373	0.00224	0.009619033	-2.02737783272952	0.00268	0.01181856	0.999999997240044	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	-11.4	0.00070	-0.745000	0.04939	-3.302000	0.02893	-2.043000	0.00423	0.100000	0.22794	0.000000	0.08366	0.909000	0.44452	0.6662:0.1265:0.0751:0.1321	4.427	0.10933	915	0.20917	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.02632	2865.33	33	chr2	134953452	.	A	G	2865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=841;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.649;SOR=0.801	GT:AD:DP:GQ:PL	0/1:119,111:230:99:2879,0,3169	18	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H,MAP3K19:NM_001321177:exon7:c.T1189C:p.Y397H,MAP3K19:NM_025052:exon7:c.T1138C:p.Y380H	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.005051	0.029891	0.026316	0.000000	0.017241	0.033537	0.015152	0.07895	5683.77	40	chr2	134987734	.	A	G	5683.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.736;DP=1318;ExcessHet=0;FS=1.068;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=-0.14;SOR=0.598	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1873,0,2288	17	1	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	0/1:112,53:165:99:173,0,2103	8	0	9	2
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1450,0,1481	16	1	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	436	1075	9	2	0	13	0.00601017	.	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.006793	0.005848	0.050000	0.008621	0.003049	0.000000	0.02632	1108.33	35	chr2	162276886	.	G	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=686;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.463;SOR=1.013	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1122,0,897	18	0	1	0
chr2	167258114	167258114	G	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199145:exon8:c.G902T:p.R301M,XIRP2:NM_001079810:exon10:c.G1568T:p.R523M,XIRP2:NM_001199143:exon11:c.G1667T:p.R556M	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0299972436548	0.0003	0.000199681	0.0004	0	0.0018	0	0	0.0003	0	0.0006	0.0003687	57	154602	rs187579128	0.0003	0.0003	0.0002	0.0003	0.0082	0.0002	0.0002	0.0063	0.0056	0.0002	0.0013	0	0	0	0.0082	0.0002	0.0006	0.0005	0.0003	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	0.0009	0.0008	7.227e-05	0	0.0014	0	0	0	0	0.0002	0.0019	0	0.032	0.47745	D	0.101	0.39492	T	0.4	0.40811	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78199	T	-1.02	0.26843	N	0.214	0.23884	-0.8600	0.51263	T	0.211	0.57067	T	8	0.011079311	0.00244	T	0.029997	0.52399	D	0.128	0.35103	.	.	0.318828661733	0.31499	.	.	.	.	.	.	.	.	.	.	-0.461671	0.00960	T	-0.476468	0.24824	T	0.016791582471536	0.00434	T	0.516848	0.16688	T	.	.	.	.	.	.	.	.	-3.603	0.20089	T	.	.	0.148	0.34205	B	.;.;.	.;.;.	0.259378	0.06380	2.845	0.92702688615321027	0.22195	0.59668	0.30979	D	AEFI	0.196131	0.32313	N	-0.378795725072503	0.26227	1.429708	-0.40748225030383	0.24777	1.358737	0.228250423536601	0.18435	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	6.06	2.78	0.31702	0.794000	0.26619	0.751000	0.21237	0.676000	0.76740	0.049000	0.21372	0.089000	0.22506	0.108000	0.18652	0.3084:0.0:0.5161:0.1754	3.401	0.06900	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.017241	0.000000	0.000000	0.02632	2017.33	33	chr2	167258114	.	G	T	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.021;DP=774;ExcessHet=0;FS=5.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.883;SOR=1.146	GT:AD:DP:GQ:PL	0/1:81,73:154:99:2031,0,2283	18	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5404.79	227	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	5404.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.32;DP=1612;ExcessHet=0.119;FS=0.605;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-4.573;SOR=0.589	GT:AD:DP:GQ:PL	0/1:145,97:242:99:3611,0,5748	17	0	2	0
chr2	178557942	178557942	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon156:c.C60217A:p.P20073T,TTN:NM_133432:exon157:c.C60592A:p.P20198T,TTN:NM_133437:exon157:c.C60793A:p.P20265T,TTN:NM_133378:exon277:c.C79708A:p.P26570T,TTN:NM_001256850:exon278:c.C82489A:p.P27497T,TTN:NM_001267550:exon328:c.C87412A:p.P29138T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1511	10	1	0	12	0.00395517	.	.	.	56628	Tip-toe_gait|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.724	0.182721582318	8.3e-05	0.00219649	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0030	0.0010026	155	154602	rs72648227	0.0009	0.0009	0.0007	0.0010	0.0042	0.0008	0.0008	0.0038	0.0037	0.0001	0.0006	0.0070	2.519e-05	0.0017	0.0024	0.0005	0.0011	0.0042	0.0009	0.0009	0.0007	0.0011	0.0048	0.0008	0.0007	0.0033	0.0028	0.0001	0	0.0018	0.0078	0	0.0013	0	0.0005	0.0005	0.0048	0.006	0.91255	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.12	0.86283	D	-5.87	0.94223	D	0.504	0.73285	0.956	0.96482	D	0.872	0.95731	D	9	0.010123581	0.00226	T	0.182722	0.85639	D	0.724	0.90280	.	.	0.729987623446	0.72758	.	.	0.487905608832	0.47607	0.641880512238	0.58832	T	.	.	.	-0.159127	0.26894	T	-0.0031417	0.70132	D	0.0713008449434733	0.08833	T	0.972803	0.94559	D	.	.	.	.	.	.	.	.	-13.793	0.92364	D	.	.	0.988	0.93009	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.908996	0.38583	20.8	0.90053429235007454	0.19339	0.94304	0.60741	D	AEFBHCI	0.924000	0.90134	D	1.06393502832342	0.97406	16.07503	0.982192047283936	0.98253	17.79259	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	5.63	5.63	0.86108	8.133000	0.89497	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	20.040	0.97574	462	0.78611	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2157.33	33	chr2	178557942	.	G	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.156;DP=868;ExcessHet=0;FS=11.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.95;SOR=0.451	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2171,0,2091	18	0	1	0
chr2	178652905	178652905	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38902T:p.P12968S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1511	8	1	0	10	0.00329815	.	.	.	238501	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00890477763684	0.0002	0.00259585	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0032	0.0010155	157	154602	rs192528655	0.0008	0.0008	0.0007	0.0010	0.0041	0.0008	0.0008	0.0037	0.0036	9.087e-05	0.0006	0.0070	2.529e-05	0.0016	0.0023	0.0005	0.0011	0.0041	0.0009	0.0009	0.0007	0.0011	0.0056	0.0008	0.0007	0.0040	0.0034	0.0001	0	0.0017	0.0081	0	0.0013	0	0.0005	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	0.0061616898	0.00139	T	0.008905	0.23463	T	.	.	.	.	0.647246297556	0.64432	.	.	.	.	.	.	.	.	.	.	-0.473537	0.00808	T	-0.455085	0.27137	T	.	.	.	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725460	0.10947	7.612	0.50825434023128024	0.04453	0.19936	0.20852	N	AEFBI	0.230008	0.35345	N	.	.	.	.	.	.	0.0160283788976358	0.12783	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.66	3.76	0.42368	0.930000	0.28458	.	.	-0.126000	0.13398	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.1797:0.1665:0.6538:0.0	5.413	0.15659	441	0.80015	.	.	.	.	.	.	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	1480.33	33	chr2	178652905	.	G	A	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=755;ExcessHet=0;FS=6.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=2.34;SOR=0.4	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1494,0,1611	18	0	1	0
chr2	178746913	178746913	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.C15487T:p.R5163C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	173276	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0116044365935	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs727504760	1.642e-05	1.71e-05	1.498e-05	1.788e-05	6.714e-05	1.111e-05	9.34e-06	1.781e-05	8.94e-06	0	6.714e-05	0	5.04e-05	1.872e-05	0	1.259e-05	1.656e-05	3.478e-05	6.58e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.094	0.31383	T	0.064	0.44905	T	0.996	0.68779	D	0.9	0.63913	P	.	.	.	.	1	0.81001	D	.	.	.	0.02	0.62318	T	-0.18	0.09796	N	0.419	0.45898	-0.5554	0.66580	T	0.277	0.64926	T	9	0.52102077	0.62643	D	0.011604	0.29387	T	0.226	0.52472	0.598	0.72862	0.674760430698	0.67200	.	.	.	.	.	.	.	.	.	.	-0.153327	0.27793	T	-0.361166	0.37918	T	0.357133461060079	0.27297	T	0.565243	0.19970	T	.	.	.	.	.	.	.	.	-5.423	0.41140	T	.	.	.	.	.	.	.	2.106326	0.26800	17.24	0.99779199927319373	0.86606	0.65408	0.32728	D	AEFBI	0.475781	0.51947	N	0.41999079274405	0.62520	4.469442	0.420439445270871	0.62840	4.506384	0.999989835507333	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	5.819000	0.68924	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.077:0.0:0.923:0.0	12.805	0.56992	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2378.33	35	chr2	178746913	.	G	A	2378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.855;DP=856;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.395;SOR=0.601	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2392,0,2578	18	0	1	0
chr2	185803399	185803399	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.T14093C:p.V4698A	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.039174188685	.	0.000399361	0.0018	0	0	0	0	0	0	0.0036	0.0002199	34	154602	rs182963899	0.0004	0.0003	0.0003	0.0005	0.0037	0.0003	0.0003	0.0033	0.0032	0	0.0004	4e-05	0	2.947e-05	0.0023	0.0001	0.0007	0.0037	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0001	0.0021	0.0017	0	0	0.0004	0	0	0	0	0.0001	0	0.0033	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999608	0.20887	N	1.245	0.31408	L	0.7	0.51474	T	-3.67	0.70191	D	0.217	0.24260	-0.9963	0.30946	T	0.086	0.33466	T	7	0.016221017	0.00341	T	0.039174	0.58658	D	0.159	0.41286	.	.	0.350307294319	0.34646	0.2011767321406828	0.20034	.	.	0.34696751833	0.17475	T	0.088186	0.38105	T	-0.42679	0.01550	T	-0.388882	0.34683	T	0.0631665977021789	0.07657	T	0.313269	0.06152	T	0.2177495	0.44265	0.26292327	0.52091	0.2177495	0.44265	0.26292327	0.52090	-4.554	0.31589	T	.	.	0.126	0.26794	B	.	.	1.000578	0.13788	10.34	0.78148227299068107	0.12176	0.47867	0.28079	N	AEFCI	.	.	.	-0.219174100903874	0.32347	1.823286	-0.196571479347642	0.31663	1.793979	0.0013480638109157	0.08462	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.91	4.91	0.63897	0.988000	0.29216	0.931000	0.22780	-0.178000	0.10482	0.831000	0.30147	0.629000	0.25856	0.009000	0.08673	0.0:0.0:0.0:1.0	10.860	0.46030	736	0.53558	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4760.83	68	chr2	185803399	.	T	C	4760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.36;DP=1942;ExcessHet=0.119;FS=2.895;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.341;SOR=0.869	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2316,0,1927	17	0	2	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	0/1:18,12:43:18:.:.:60,0,221:.	14	0	3	2
chr2	189068227	189068227	G	A	exonic	COL5A2	.	nonsynonymous SNV	COL5A2:NM_000393:exon20:c.C1301T:p.T434M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	2	1509	11	0	0	11	0.00363156	0.0025	0.204	YES	209562	not_specified|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_2|Connective_tissue_disorder|not_provided|Ehlers-Danlos_syndrome,_classic_type,_1|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MedGen:CN169374|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.229	0.0590324780846	0.0018	0.000399361	0.0018	0	8.67e-05	0	0.0005	0.0027	0.0033	0.0018	0.0016171	250	154602	rs145850743	0.0012	0.0012	0.0011	0.0012	0.0021	0.0011	0.0011	0.0015	0.0014	0.0002	0.0002	0.0293	0	0.0004	0.0021	0.0005	0.0026	0.0017	0.0012	0.0012	0.0012	0.0011	0.0019	0.0010	0.0010	0.0010	0.0007	0.0002	0.0132	0.0001	0.0268	0	0.0002	0.0034	0.0007	0.0033	0.0019	0.088	0.32296	T	0.138	0.33780	T	0.025	0.19245	B	0.013	0.16460	B	0.000035	0.55875	D	0.000000	0.98319	0.39984	D	1.03	0.25572	L	-3.41	0.94306	D	-1.61	0.38734	N	0.313	0.35301	-0.0730	0.80710	T	0.597	0.85635	D	9	0.01739955	0.00371	T	0.059032	0.67525	D	0.229	0.52916	.	.	0.652360573229	0.64946	0.09867706354062715	0.09798	0.938037164653	0.72112	0.441466838121	0.30777	T	0.346631	0.71486	T	-0.288362	0.09801	T	-0.211616	0.53540	T	0.0383728711862613	0.03398	T	0.817618	0.47476	T	0.035361096	0.04147	0.06214971	0.12114	0.032855596	0.03391	0.06461538	0.12978	-5.013	0.36981	T	0.15083449891557466	0.17747	0.088	0.11510	B	.;.	.;.	3.549983	0.49897	22.9	0.99376958943212335	0.61715	0.95345	0.64359	D	AEFBI	0.310504	0.41650	N	-0.399433187436685	0.25490	1.384032	-0.235931315977408	0.30259	1.702185	0.994288675256262	0.33568	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.22	4.35	0.51454	2.466000	0.44742	6.591000	0.56026	-0.759000	0.03520	0.995000	0.38783	1.000000	0.68203	0.633000	0.32236	0.0732:0.0:0.9268:0.0	13.808	0.62734	837	0.37933	.;.	.	.	.	.	.	Likely benign	0	0	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	1428.33	40	chr2	189068227	.	G	A	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.939;SOR=0.771	GT:AD:DP:GQ:PL	0/1:38,57:95:99:1442,0,784	18	0	1	0
chr2	189689880	189689880	A	T	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon3:c.A955T:p.I319L,ANKAR:NM_144708:exon3:c.A955T:p.I319L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0078573028721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226922867	5.581e-06	5.473e-06	1.387e-06	9.822e-06	7.254e-06	2.4e-06	1.74e-06	3.12e-06	2.26e-06	0	0	0	0	0	0	7.254e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.32675	T	0.002	0.09854	B	0.003	0.08700	B	0.011481	0.29512	N	0.299061	0.935099	0.37109	D	1.63	0.41750	L	0.59	0.53943	T	-0.74	0.20791	N	0.224	0.26233	-0.8784	0.49888	T	0.143	0.46422	T	10	0.1287174	0.24487	T	0.007857	0.20851	T	0.070	0.20419	0.303	0.27164	0.716887018219	0.71440	0.3422800668710417	0.34141	0.0989282270927	0.11174	0.607162237167	0.53915	T	0.007958	0.07329	T	-0.117764	0.33491	T	-0.406936	0.32579	T	0.296673656073513	0.24866	T	0.620138	0.23804	T	0.115836054	0.27330	0.123793356	0.29848	0.115836054	0.27330	0.123793356	0.29847	-2.871	0.08857	T	.	.	0.107	0.20078	B	.;.	.;.	3.165146	0.42900	21.6	0.98177769524422676	0.38916	0.75431	0.36932	D	AEFGI	0.190327	0.31756	N	-0.0863713463985017	0.37990	2.218304	0.0659348526068162	0.42849	2.599024	0.946951009653852	0.27730	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.97	4.82	0.61641	2.112000	0.41516	4.044000	0.41450	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7833:0.1423:0.0744:0.0	7.558	0.27000	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr2	189689880	.	A	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=734;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.735;SOR=0.79	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1369,0,1190	18	0	1	0
chr2	195683744	195683744	A	T	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon3:c.A1054T:p.N352Y,SLC39A10:NM_020342:exon3:c.A1054T:p.N352Y	.	437	1083	2	0	0	2	0.000922509	.	.	.	2350483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0390690779346	0.0002	0.000199681	0.0004	0	0.0009	0	0	0.0004	0	0.0005	0.000304	47	154602	rs143138746	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0040	0.0035	5.978e-05	0.0005	3.829e-05	0	1.875e-05	0.0056	0.0003	0.0005	0.0005	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.623e-05	0	0.0002	0	0	0	0	0.0003	0	0.0002	0.018	0.50676	D	0.051	0.47828	T	0.924	0.51285	P	0.347	0.42698	B	0.000712	0.42254	D	0.290368	0.981696	0.81001	D	0.805	0.20218	L	-0.16	0.65378	T	-2.12	0.48184	N	0.307	0.34659	-0.7660	0.57077	T	0.189	0.53945	T	10	0.064230025	0.08487	T	0.039069	0.58594	D	0.143	0.38195	.	.	0.221890330934	0.21812	0.514636805628982	0.51386	0.56151172001	0.52655	0.3714594841	0.21041	T	0.051	0.28783	T	-0.268244	0.11953	T	-0.255498	0.49272	T	0.0503964448173039	0.05569	T	0.779122	0.41282	T	0.091780335	0.21514	0.13027813	0.31307	0.091780335	0.21514	0.13027813	0.31307	-6.367	0.49252	T	.	.	0.145	0.31857	B	.;.	.;.	3.251273	0.44425	21.9	0.99277971870998827	0.57799	0.80059	0.39800	D	AEFDGBCI	0.408513	0.48016	N	0.283129291783981	0.55293	3.693423	0.310144131095958	0.56136	3.776497	0.999965971965366	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	3.93	0.44666	4.380000	0.59348	4.637000	0.44139	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9252:0.0:0.0748:0.0	10.672	0.44961	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.010101	0.002717	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1413.33	38	chr2	195683744	.	A	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.63;SOR=0.747	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1427,0,1407	18	0	1	0
chr2	195716774	195716774	G	T	exonic	SLC39A10	.	stopgain	SLC39A10:NM_001127257:exon7:c.G1834T:p.G612X,SLC39A10:NM_020342:exon7:c.G1834T:p.G612X	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116508	0.19190	N	0.566576	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.260193	0.98688	40	0.98950982879574245	0.49131	0.88342	0.48226	D	AEFDGBHCI	0.052537	0.09387	N	0.853925515021332	0.89332	9.927986	0.686923639745734	0.81384	7.514351	0.996742287366629	0.34974	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	2.780000	0.47429	11.436000	0.92754	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.519000	0.29452	0.0722:0.0:0.9278:0.0	13.889	0.63231	912	0.21483	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5054.33	34	chr2	195716774	.	G	T	5054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.782;DP=922;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.981;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,129:245:99:0|1:195716774_G_T:5068,0,4442:195716774	18	0	1	0
chr2	195716775	195716775	G	C	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon7:c.G1835C:p.G612A,SLC39A10:NM_020342:exon7:c.G1835C:p.G612A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0111975322435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.735	0.05072	T	0.01	0.15535	B	0.012	0.16012	B	0.116508	0.19190	N	0.566576	0.931892	0.27035	N	0.97	0.24054	L	0.0	0.62608	T	-0.06	0.07882	N	0.172	0.18376	-1.0196	0.23845	T	0.111	0.39959	T	10	0.09471136	0.16861	T	0.011198	0.28580	T	0.116	0.32463	0.459	0.52590	0.348910101417	0.34498	0.40400487296317106	0.40316	0.250531978544	0.27623	0.478873312473	0.35902	T	0.01229	0.10825	T	-0.0737665	0.40724	T	-0.343737	0.39922	T	0.145854905247688	0.16768	T	0.810419	0.46176	T	0.033077378	0.03456	0.057170093	0.10345	0.033077378	0.03455	0.057170093	0.10345	-3.696	0.19259	T	.	.	0.077	0.06205	B	.;.	.;.	2.731199	0.35751	19.98	0.52376274267878664	0.04736	0.74009	0.36200	D	AEFDGBHCI	0.103060	0.20659	N	-0.366191612084132	0.26682	1.458042	-0.143364218136419	0.33665	1.928076	0.922592904717809	0.26713	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.169000	0.50509	11.436000	0.92754	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.456000	0.28029	0.0:0.1289:0.6728:0.1982	9.336	0.37213	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5054.33	34	chr2	195716775	.	G	C	5054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=925;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.967;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,129:245:99:0|1:195716774_G_T:5068,0,4442:195716774	18	0	1	0
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	0/1:46,22:68:99:.:.:163,0,713:.	1	0	17	1
chr2	199272237	199272237	C	T	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon11:c.G2176A:p.A726T,SATB2:NM_001172517:exon12:c.G2176A:p.A726T,SATB2:NM_015265:exon12:c.G2176A:p.A726T	Glass syndrome, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	450177	Chromosome_2q32-q33_deletion_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	.	0.00239617	0.0012	9.61e-05	0	0	0	0	0	0.0088	0.0010608	164	154602	rs551624897	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	0	0	0	0	0.0005	8.993e-07	0.0004	0.0075	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	2.405e-05	0	0	0	0	0	0	0	0	0.0095	0.307	0.18308	T	0.827	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.040434	0.24059	N	0.405180	1	0.08975	N	0.345	0.11182	N	0.9	0.46028	T	0.02	0.06739	N	0.035	0.08366	-1.0343	0.19078	T	0.039	0.16892	T	10	0.004018724	0.00078	T	.	.	.	0.025	0.05312	0.258	0.20002	0.184605227958	0.18053	0.048395945774403516	0.04782	1.014331219	0.74887	0.274340391159	0.06715	T	0.098205	0.40179	T	-0.70227	0.00035	T	-0.776692	0.02555	T	0.0341003142758401	0.02655	T	0.69773	0.30785	T	0.024098374	0.01209	0.050859954	0.08067	0.02329161	0.01057	0.05186298	0.08432	-4.04	0.24400	T	.	.	0.063	0.01512	B	.;.;.;.;.;.	.;.;.;.;.;.	0.507976	0.08767	5.545	0.81291108516409605	0.13613	0.06611	0.12627	N	AEFBI	0.070131	0.13911	N	-1.40890632763749	0.02560	0.1131995	-1.43116993020324	0.02945	0.1364495	0.0558214240707865	0.15032	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.63	-4.53	0.03217	-0.100000	0.10959	-1.460000	0.05389	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.2308:0.4774:0.2918	8.821	0.34186	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1816.33	34	chr2	199272237	.	C	T	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.16;SOR=0.705	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1830,0,1982	18	0	1	0
chr2	201209363	201209363	A	T	exonic	CASP10	.	nonsynonymous SNV	CASP10:NM_001206524:exon7:c.A1015T:p.I339L,CASP10:NM_001206542:exon7:c.A1087T:p.I363L,CASP10:NM_001230:exon7:c.A1087T:p.I363L,CASP10:NM_032974:exon9:c.A1216T:p.I406L,CASP10:NM_032977:exon9:c.A1216T:p.I406L	Autoimmune lymphoproliferative syndrome, type II, Autosomal dominant;Gastric cancer, somatic;Lymphoma, non-Hodgkin, somatic	0	1513	9	0	0	9	0.0029654	.	.	.	283866	not_provided|Hypomyelination_and_Congenital_Cataract|Autoimmune_lymphoproliferative_syndrome_type_2A	MedGen:C3661900|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163|MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909,Orphanet:3261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	.	0.0026	0.00479233	0.0049	0.0005	0.0010	0	0.0051	0.0044	0.0066	0.0151	0.0046636	721	154602	rs80358239	0.0044	0.0044	0.0040	0.0048	0.0150	0.0043	0.0043	0.0143	0.0140	0.0004	0.0013	0.0019	0	0.0049	0.0036	0.0040	0.0039	0.0150	0.0034	0.0034	0.0034	0.0034	0.0139	0.0031	0.0030	0.0113	0.0103	0.0004	0	0.0014	0.0014	0	0.0039	0	0.0052	0.0028	0.0139	0.144	0.28026	T	0.496	0.22494	T	0.202	0.47796	B	0.228	0.50090	B	0.106479	0.02597	N	1.767010	1	0.08975	N	0.385	0.12166	N	2.29	0.17113	T	-0.96	0.26200	N	0.139	0.25130	-1.0013	0.29545	T	0.027	0.11574	T	10	0.006909907	0.00157	T	.	.	.	0.267	0.58126	0.569	0.69167	0.370424759081	0.36655	0.23218510815205856	0.23133	0.078089185992	0.08789	0.315587550402	0.12752	T	0.034476	0.23338	T	-0.456726	0.01030	T	-0.416508	0.31477	T	0.000736261959413802	0.00007	T	0.765423	0.45334	T	0.11972358	0.28185	0.06245331	0.12222	0.13420628	0.31190	0.072225735	0.15557	-1.242	0.01312	T	0.2821639316482911	0.37763	0.154	0.34383	B	.;.;.;.;.	.;.;.;.;.	0.228888	0.06102	2.548	0.83785163860430634	0.14918	0.22508	0.21770	N	AEFDGBCI	0.092519	0.18731	N	-1.10262030248123	0.06596	0.3041041	-1.15610378063068	0.06659	0.3212677	0.997672082506346	0.35891	0.615465	0.37627	0	0.624146	0.53433	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.97	-0.462	0.11560	-1.204000	0.03127	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5325:0.0:0.3425:0.1249	5.263	0.14899	585	0.69300	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic 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	0.003525	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1311.33	37	chr2	201209363	.	A	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=797;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.343;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1325,0,1279	18	0	1	0
chr2	206306587	206306587	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2059T:p.R687C,ZDBF2:NM_001369654:exon6:c.C2059T:p.R687C,ZDBF2:NM_001285549:exon7:c.C2053T:p.R685C	.	426	1086	10	0	0	10	0.00458295	.	.	.	697264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0035	0.00379393	0.0040	0.0009	0.0015	0.0002	0.0006	0.0040	0.0068	0.0107	0.0039844	616	154602	rs192597586	0.0047	0.0047	0.0045	0.0049	0.0095	0.0046	0.0046	0.0090	0.0088	0.0005	0.0021	0.0026	5.039e-05	0.0004	0.0033	0.0050	0.0041	0.0095	0.0030	0.0030	0.0032	0.0027	0.0077	0.0027	0.0026	0.0057	0.0050	0.0007	0.0044	0.0028	0.0040	0	0.0004	0	0.0046	0.0014	0.0077	0.072	0.34982	T	0.03	0.54159	D	0.143	0.27649	B	0.005	0.11217	B	0.204098	0.16527	N	0.460073	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.02	0.07299	N	0.073	0.04668	-1.0676	0.09948	T	0.027	0.11751	T	10	0.004863441	0.00104	T	.	.	.	0.072	0.21020	.	.	0.18995819373	0.18626	0.05791993812508963	0.05732	0.0862770978425	0.09741	0.234137713909	0.02288	T	0.00349	0.09129	T	-0.655254	0.00067	T	-0.706042	0.05501	T	0.0121225805317121	0.00193	T	.	.	.	0.05399236	0.10297	0.033078384	0.02143	0.05399236	0.10296	0.033078384	0.02143	-5.108	0.37991	T	.	.	0.101	0.17742	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.946820	0.13229	9.728	0.92072997945247037	0.21420	0.02386	0.06774	N	AEFBI	0.038963	0.05590	N	-1.07273575931547	0.07149	0.3312424	-1.09082094671271	0.07880	0.3851052	0.117035133085202	0.16792	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.586402	0.36253	0	.	.	4.51	0.754	0.17558	-1.458000	0.02478	-1.114000	0.06289	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1723:0.473:0.1669:0.1877	1.523	0.02367	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	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1869.33	34	chr2	206306587	.	C	T	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.87;DP=1610;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=3.42;SOR=0.927	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1883,0,1758	18	0	1	0
chr2	208314312	208314312	G	A	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon14:c.G1715A:p.R572Q	Corneal fleck dystrophy, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	287351	PIKFYVE-related_disorder|Fleck_corneal_dystrophy|not_provided	.|MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850,Orphanet:98970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0154856276866	0.0013	0.000798722	0.0016	0.0004	0.0005	0	0.0026	0.0023	0	0.0005	0.0016041	248	154602	rs146158348	0.0014	0.0014	0.0014	0.0014	0.0016	0.0014	0.0013	0.0016	0.0015	0.0003	0.0006	0.0002	2.521e-05	0.0017	0.0003	0.0016	0.0013	0.0005	0.0013	0.0013	0.0012	0.0014	0.0023	0.0012	0.0011	0.0020	0.0019	0.0002	0	0.0004	0.0003	0	0.0028	0	0.0023	0.0005	0.0002	0.058	0.37750	T	0.281	0.29442	T	0.999	0.77913	D	0.978	0.74104	D	0.000003	0.62929	D	0.000000	0.999995	0.58761	D	0.805	0.20218	L	1.52	0.30669	T	-0.57	0.17210	N	0.469	0.50508	-1.0242	0.22344	T	0.124	0.42862	T	10	0.021681428	0.00524	T	0.015486	0.36250	T	0.173	0.43840	.	.	0.512526160644	0.50892	0.4013452042221	0.40049	1.03364375487	0.75500	0.73122292757	0.71684	T	0.24319	0.61207	T	-0.34289	0.05191	T	-0.265835	0.48240	T	0.064973664225603	0.07927	T	0.953105	0.85427	D	0.16655943	0.36998	0.10787526	0.25976	0.2313748	0.45908	0.10208825	0.24459	-3.409	0.15177	T	.	.	0.166	0.41341	B	.;.	.;.	5.556154	0.92096	32	0.99941860655455383	0.99824	0.99763	0.99288	D	AEFBI	0.798807	0.72525	D	0.689349067566482	0.78936	6.972759	0.740950411907338	0.85479	8.593069	0.999999999999998	0.74766	0.732398	0.92422	0	0.587265	0.34161	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	9.721000	0.98002	11.871000	0.98575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.626	0.95674	771	0.49057	.;.	.	.	.	.	.	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	0.008621	0.000000	0.000000	0.02632	339.33	33	chr2	208314312	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=636;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.215;SOR=0.877	GT:AD:DP:GQ:PL	0/1:21,16:37:99:353,0,452	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	0/1:72,50:122:99:1151,0,1715	17	0	2	0
chr2	227280446	227280446	C	G	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon30:c.C2230G:p.P744A	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.112548006601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.159	0.31527	T	1.0	0.90584	D	0.999	0.92359	D	0.001642	0.38382	N	0.117523	0.99981	0.49394	D	2.605	0.76211	M	-3.19	0.93170	D	-3.32	0.66085	D	0.433	0.47208	0.787	0.94251	D	0.851	0.95046	D	10	0.51926994	0.62547	D	0.112548	0.79073	D	0.426	0.73372	0.295	0.25881	0.869132158565	0.86785	0.16832599828363334	0.16752	0.182580710226	0.20522	0.363789856434	0.19936	T	0.64456	0.89140	D	0.144997	0.68798	D	-0.029498	0.68403	D	0.94807493686676	0.62817	D	0.357364	0.08134	T	0.13398781	0.31147	0.15862918	0.37035	0.13398781	0.31147	0.15862918	0.37035	-6.162	0.47615	T	0.3461271271266906	0.44362	0.071	0.03736	B	.	.	3.817139	0.55095	23.6	0.98760811083966094	0.45816	0.95768	0.66071	D	AEFBI	0.311364	0.41711	N	0.598507256446517	0.73081	5.908256	0.58601283564483	0.73934	6.052696	0.418204745368907	0.20269	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	3.553000	0.53459	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.732	0.77574	901	0.24189	.	.	.	.	.	.	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	1316.33	35	chr2	227280446	.	C	G	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=729;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.41;SOR=0.514	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1330,0,1360	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	0/1:84,68:152:99:1760,0,2271	17	0	2	0
chr2	231593316	231593316	T	C	exonic	TEX44	.	nonsynonymous SNV	TEX44:NM_152614:exon1:c.T365C:p.V122A	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0059	0.00339457	0.0064	0.0010	0.0025	0	0.0018	0.0069	0.0055	0.0160	0.0061707	954	154602	rs148284031	0.0069	0.0069	0.0065	0.0072	0.0177	0.0067	0.0067	0.0170	0.0167	0.0008	0.0023	0.0187	2.519e-05	0.0014	0.0052	0.0066	0.0069	0.0177	0.0046	0.0046	0.0049	0.0042	0.0166	0.0043	0.0042	0.0137	0.0126	0.0011	0.0396	0.0024	0.0207	0	0.0007	0	0.0060	0.0047	0.0166	0.698	0.04200	T	0.822	0.03806	T	0.018	0.17786	B	0.018	0.18489	B	0.040679	0.01881	N	2.788130	1	0.08975	N	.	.	.	2.28	0.17271	T	-0.33	0.12472	N	0.02	0.00308	-1.0065	0.28004	T	0.011	0.04088	T	10	0.003635943	0.00066	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.033004459914763355	0.03248	0.385916819378	0.39884	.	.	.	0.002265	0.01662	T	-0.707435	0.00033	T	-0.775984	0.02577	T	0.000997550479526504	0.00010	T	0.214779	0.02659	T	0.015386248	0.00136	0.02219863	0.00250	0.015386248	0.00136	0.02219863	0.00249	-2.61	0.06580	T	.	.	0.127	0.27069	B	.	.	-0.642433	0.01460	0.089	0.52680109740977787	0.04794	0.00838	0.03362	N	AEFBI	0.020522	0.00818	N	-1.71499427806288	0.00790	0.03412661	-1.7970231199847	0.00769	0.03428198	0.669869460002155	0.22363	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.82	-7.63	0.01150	-0.407000	0.07240	-0.475000	0.08954	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.2912:0.24:0.3174:0.1514	1.108	0.01593	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.010101	0.010870	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1759.33	34	chr2	231593316	.	T	C	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.623;DP=983;ExcessHet=0;FS=3.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.581;SOR=0.756	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1773,0,2154	18	0	1	0
chr2	231593771	231593771	C	T	exonic	TEX44	.	nonsynonymous SNV	TEX44:NM_152614:exon1:c.C820T:p.R274C	.	414	1092	16	0	0	16	0.00727273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	7.7e-05	0.00359425	0.0026	9.714e-05	0.0005	0.0001	0	0.0005	0.0033	0.0167	0.0022768	352	154602	rs150621017	0.0013	0.0013	0.0008	0.0018	0.0165	0.0012	0.0012	0.0157	0.0155	8.961e-05	0.0006	0.0004	7.557e-05	1.955e-05	0.0043	0.0003	0.0012	0.0165	0.0008	0.0008	0.0004	0.0013	0.0186	0.0007	0.0007	0.0155	0.0144	0	0	0.0007	0	0.0002	0	0.0034	0.0003	0	0.0186	0.087	0.32453	T	0.022	0.57587	D	0.262	0.31549	B	0.068	0.27651	B	0.003813	0.34463	N	0.000000	0.969659	0.38743	D	.	.	.	1.62	0.28189	T	-7.45	0.94899	D	0.208	0.23125	-1.0670	0.10085	T	0.050	0.21182	T	10	0.0068344176	0.00155	T	.	.	.	0.096	0.27654	.	.	0.0762999501168	0.06990	0.20772594693970844	0.20688	0.126491588652	0.14259	.	.	.	0.022076	0.17084	T	-0.551518	0.00286	T	-0.55202	0.17132	T	0.0606769904587318	0.07274	T	0.611339	0.23205	T	0.18050888	0.39175	0.153769	0.36119	0.18050888	0.39175	0.153769	0.36119	-6.444	0.49852	T	.	.	0.125	0.26514	B	.	.	1.064488	0.14465	11.04	0.94549513014352127	0.25064	0.34797	0.25152	N	AEFDBI	0.111189	0.22023	N	-0.794288364431603	0.13458	0.6631143	-0.723428858588875	0.16377	0.8661116	0.00676749017638534	0.11302	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.96	2.05	0.25860	0.100000	0.15067	-0.128000	0.11649	-2.025000	0.00433	0.500000	0.26956	0.000000	0.08366	0.055000	0.15596	0.1526:0.7571:0.0:0.0903	8.466	0.32119	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.026515	0.02632	1626.33	37	chr2	231593771	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.202;DP=779;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.513;SOR=0.809	GT:AD:DP:GQ:PL	0/1:39,61:100:99:1640,0,974	18	0	1	0
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|1:0,56:110:99:0|1:232847515_C_CCG:5281,2290,2065:232847515	6	3	10	0
chr2	233760930	233760930	A	G	exonic	UGT1A1	.	nonsynonymous SNV	UGT1A1:NM_000463:exon1:c.A643G:p.I215V	Crigler-Najjar syndrome, type I, Autosomal recessive;Crigler-Najjar syndrome, type II, Autosomal recessive;Hyperbilirubinemia, familial transient neonatal, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	1383278	not_provided|Crigler-Najjar_syndrome_type_1|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Gilbert_syndrome|UGT1A1-related_disorder	MedGen:C3661900|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00556121100589	7.7e-05	.	7.413e-05	0	0	0.0001	0	7.492e-05	0	0.0002	5.82e-05	9	154602	rs144398951	3.694e-05	3.694e-05	2.995e-05	4.4e-05	0.0012	2.894e-05	2.592e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	2.428e-05	0.0001	0.0001	5.91e-05	5.906e-05	6.425e-05	5.372e-05	0.0002	3.076e-05	2.209e-05	5.28e-05	2.833e-05	2.407e-05	0	0.0002	0	0	0	0.0034	4.41e-05	0.0005	0	0.488	0.08042	T	0.535	0.09931	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999894	0.19781	N	0.34	0.10450	N	0.23	0.59717	T	-0.24	0.11913	N	0.023	0.00571	-1.0666	0.10177	T	0.046	0.19680	T	9	0.044555217	0.03426	T	0.005561	0.14349	T	0.080	0.23350	.	.	0.28058544554	0.27657	0.46227409960638804	0.46145	0.0941342584963	0.10624	.	.	.	0.159808	0.50340	T	-0.482096	0.00719	T	-0.693606	0.06182	T	0.30451574921608	0.25190	T	0.190281	0.05188	T	0.049234968	0.08710	0.041665714	0.04789	0.049234968	0.08709	0.041665714	0.04788	-4.053	0.28260	T	0.08747540585429459	0.05143	0.088	0.15654	B	.;.	.;.	-1.420717	0.00345	0.006	0.43073768273821966	0.03218	0.10052	0.15663	N	AEFDBCI	0.704204	0.65999	D	-1.72282313131853	0.00764	0.03298689	-1.78120734700082	0.00821	0.0366769	0.999999999997007	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.93	-11.9	0.00018	-0.472000	0.06702	-5.540000	0.01682	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.2035:0.2627:0.2423:0.2915	0.661	0.00788	627	0.65350	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	6193.33	33	chr2	233760930	.	A	G	6193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.393;DP=1171;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.316;SOR=0.717	GT:AD:DP:GQ:PL	0/1:259,254:513:99:6207,0,7223	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|1:30,17:47:99:0|1:238130392_G_A:594,0,1129:238130392	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	0/1:33,27:60:99:782,0,787	17	0	2	0
chr2	241803765	241803765	C	T	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C796T:p.P266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00214314871601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.42	0.14116	T	0.238	0.30817	B	0.178	0.35748	B	0.037725	0.24367	N	0.344624	1	0.08975	N	2.03	0.55503	M	2.56	0.13673	T	-3.63	0.69714	D	0.152	0.15609	-1.0393	0.17526	T	0.036	0.15334	T	10	0.12764469	0.24275	T	0.002143	0.03989	T	0.039	0.10176	0.408	0.44230	0.132336055621	0.12781	0.2310309852957576	0.23018	1.13890927585	0.78860	0.69467318058	0.66376	T	0.05	0.28469	T	-0.252286	0.13819	T	-0.600168	0.12797	T	0.599838376045227	0.36394	D	0.355164	0.08047	T	0.17594758	0.38481	0.2919989	0.55225	0.17594758	0.38481	0.2919989	0.55225	-6.704	0.51840	T	0.4421168010077407	0.52742	0.098	0.16099	B	.	.	1.796136	0.22833	15.78	0.91361589645264818	0.20626	0.26999	0.23153	N	ALL	0.073717	0.14753	N	-0.642301814356422	0.17684	0.9121193	-0.706295112520465	0.16803	0.8906521	0.999999968276995	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	2.55	0.29757	0.027000	0.13512	0.094000	0.14556	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1301:0.6171:0.2528:0.0	11.152	0.47687	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	1173.33	33	chr2	241803765	.	C	T	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.945;SOR=0.623	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1187,0,1368	18	0	1	0
chr3	14479174	14479174	G	A	exonic	SLC6A6	.	nonsynonymous SNV	SLC6A6:NM_001134367:exon13:c.G1843A:p.V615I,SLC6A6:NM_003043:exon13:c.G1540A:p.V514I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0261846860436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.13252	T	0.0	0.02946	B	0.003	0.08700	B	0.061642	0.22156	N	0.474449	0.999992	0.08975	N	-0.055	0.04927	N	.	.	.	.	.	.	0.135	0.13198	-0.9837	0.34140	T	0.124	0.42736	T	10	0.045062065	0.03533	T	0.026185	0.49115	D	.	.	0.427	0.47350	0.043077524339	0.03247	0.1390822013152825	0.13831	.	.	0.25244858861	0.04029	T	0.072827	0.34551	T	-0.257865	0.13152	T	-0.608181	0.12133	T	0.0942636281251907	0.11713	T	0.876612	0.58915	D	0.019114893	0.00437	0.02960055	0.01315	0.019114893	0.00437	0.02960055	0.01315	-3.538	0.16968	T	0.09680259060754973	0.06741	0.072	0.04238	B	.;.	.;.	1.561145	0.19999	14.54	0.3901827755273905	0.02667	0.23327	0.22040	N	AEFBI	0.078552	0.15851	N	-0.875079748910181	0.11438	0.5519505	-0.714901949067736	0.16590	0.8783379	0.993050133528946	0.33067	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	2.32	0.27895	0.560000	0.23204	2.176000	0.31092	0.618000	0.50648	0.212000	0.24446	0.988000	0.31051	0.998000	0.85391	0.2069:0.259:0.534:0.0	7.047	0.24229	934	0.15400	.;.	.	.	.	.	.	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	1474.33	34	chr3	14479174	.	G	A	1474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=753;ExcessHet=0;FS=2.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.578;SOR=0.968	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1488,0,1173	18	0	1	0
chr3	14728494	14728494	C	G	exonic	C3orf20	.	nonsynonymous SNV	C3orf20:NM_001184957:exon12:c.C1380G:p.F460L,C3orf20:NM_001184958:exon12:c.C1380G:p.F460L,C3orf20:NM_032137:exon12:c.C1746G:p.F582L	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0029971420584	0.0068	0.00219649	0.0059	0.0013	0.0041	0	0.0030	0.0092	0.0077	0.0005	0.0063518	982	154602	rs35363400	0.0086	0.0086	0.0089	0.0083	0.0104	0.0085	0.0084	0.0102	0.0102	0.0012	0.0056	0.0005	2.519e-05	0.0043	0.0014	0.0104	0.0071	0.0006	0.0063	0.0063	0.0069	0.0057	0.0102	0.0059	0.0058	0.0096	0.0093	0.0021	0.0230	0.0071	0	0	0.0026	0	0.0102	0.0080	0.0004	0.319	0.14256	T	0.485	0.11725	T	0.021	0.18474	B	0.009	0.14300	B	0.050699	0.02015	N	2.272200	1	0.08975	N	0.665	0.16292	N	3.49	0.07236	T	0.47	0.03297	N	0.063	0.03502	-0.9486	0.41211	T	0.015	0.06090	T	10	0.0049746633	0.00107	T	0.002997	0.06427	T	0.025	0.05312	0.197	0.10975	0.0138822411134	0.00435	0.24176502467370015	0.24090	0.0936402175111	0.10581	.	.	.	0.001217	0.00709	T	-0.698459	0.00037	T	-0.766669	0.02880	T	0.000316693098865248	0.00003	T	0.291471	0.05330	T	0.044411674	0.07093	0.033032537	0.02133	0.044411674	0.07093	0.033032537	0.02133	-2.054	0.03575	T	.	.	0.268	0.50204	B	.;.;.	.;.;.	-0.273065	0.02738	0.364	0.61885247883464733	0.06822	0.03199	0.08192	N	AEFBI	0.036734	0.04943	N	-1.2242725295259	0.04650	0.2103191	-1.261458728331	0.04963	0.2354065	0.00609020068578502	0.11125	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.3	1.47	0.21832	-0.057000	0.11726	-0.098000	0.11976	-1.095000	0.01525	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.5728:0.4272:0.0	9.453	0.37901	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1620.33	34	chr3	14728494	.	C	G	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.293;DP=759;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-2.559;SOR=0.729	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1634,0,1990	18	0	1	0
chr3	15596396	15596396	T	A	exonic	HACL1	.	nonsynonymous SNV	HACL1:NM_001284413:exon3:c.A215T:p.Y72F,HACL1:NM_001284415:exon3:c.A215T:p.Y72F,HACL1:NM_001284416:exon3:c.A215T:p.Y72F,HACL1:NM_012260:exon3:c.A215T:p.Y72F	.	442	1072	5	1	2	9	0.0032543	.	.	.	3216349	HACL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0363321832887	0.0003	0.00159744	0.0013	9.69e-05	8.676e-05	0	0	0.0006	0	0.0072	0.0011319	175	154602	rs146264180	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0065	0	0.0002	0	0	0.0002	0.0026	0.0003	0.0007	0.0071	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0011	0.0001	0	0	0	0.0068	0.0006	0.0009	0.0085	0.006	0.61437	D	0.16	0.52060	T	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	D	0.118819	1	0.81001	D	1.705	0.44259	L	1.41	0.45636	T	-3.54	0.71762	D	0.549	0.58798	-0.5932	0.65093	T	0.250	0.61981	T	10	0.013445586	0.00285	T	0.036332	0.56926	D	0.275	0.59130	.	.	0.502379540653	0.49875	0.6964501688370138	0.69586	0.383136898695	0.39647	0.589257359505	0.51388	T	0.411011	0.78403	T	-0.35242	0.04577	T	-0.275835	0.47229	T	0.092017065563697	0.11454	T	0.970203	0.96026	D	0.58209443	0.71722	0.53946155	0.73384	0.58209443	0.71723	0.53946155	0.73385	-5.869	0.58401	T	.	.	0.131	0.29394	B	.;.;.;.;.;.	.;.;.;.;.;.	3.519191	0.49320	22.8	0.98685702513880968	0.44681	0.96506	0.69479	D	AEFBI	0.489549	0.52741	N	0.568418093849482	0.71211	5.616418	0.586953807329364	0.74004	6.063891	0.99999513940917	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	4.008000	0.56815	4.885000	0.45705	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.020	0.71285	500	0.76024	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain;Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain;.;.;.;Thiamine pyrophosphate enzyme, N-terminal TPP-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	637.33	33	chr3	15596396	.	T	A	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=-1.874;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,33:84:99:651,0,1185	18	0	1	0
chr3	21437104	21437104	C	T	exonic	ZNF385D	.	nonsynonymous SNV	ZNF385D:NM_024697:exon5:c.G539A:p.S180N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00373343153997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368223028	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	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	0.151	0.24564	T	0.473	0.12142	T	0.067	0.23653	B	0.025	0.20508	B	0.000939	0.41028	D	0.295113	0.995504	0.23274	N	1.445	0.36358	L	0.9	0.45248	T	-1.64	0.39314	N	0.157	0.16308	-1.0834	0.06702	T	0.055	0.23300	T	10	0.059945077	0.07287	T	0.003733	0.08651	T	0.095	0.27398	0.206	0.12216	0.0675242888579	0.06100	0.16545008298838498	0.16465	0.155848599088	0.17590	0.341601610184	0.16678	T	0.017983	0.14575	T	-0.296065	0.09037	T	-0.663053	0.08062	T	0.357240693623785	0.27301	T	0.773423	0.40508	T	0.1380006	0.31933	0.10554951	0.25375	0.1380006	0.31933	0.10554951	0.25375	-5.173	0.38666	T	.	.	0.064	0.01738	B	.	.	2.538526	0.32831	19.16	0.9900752354881861	0.50293	0.80468	0.40098	D	AEFBI	0.197360	0.32428	N	-0.120477289349581	0.36501	2.110752	0.0796650789789075	0.43527	2.652658	0.144451102301759	0.17333	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.631631	0.49550	0	.	.	6.09	4.22	0.49153	1.794000	0.38408	1.897000	0.29556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.1956:0.534:0.1249:0.1455	2.725	0.04888	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	.	.	.	.	.	.	.	.	0.02632	2427.33	34	chr3	21437104	.	C	T	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.942;DP=913;ExcessHet=0;FS=5.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.058;SOR=1.037	GT:AD:DP:GQ:PL	0/1:162,101:263:99:2441,0,4137	18	0	1	0
chr3	32357422	32357422	G	A	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_178868:exon2:c.G197A:p.R66Q	.	.	.	.	.	.	.	.	.	.	.	2280305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0170800628816	7.7e-05	0.000399361	0.0001	0	0.0005	0.0002	0	0.0001	0	0	0.00011	17	154602	rs149146364	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.974e-05	0.0005	0.0002	0.0004	0	0.0017	0.0001	0.0006	5.797e-05	0.0002	0.0002	0.0001	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	9.65e-05	0	0.0009	0.0006	0.0004	0	0	4.411e-05	0.0028	0.0002	0.304	0.14303	T	0.502	0.11115	T	0.984	0.60733	D	0.68	0.53472	P	0.057416	0.22483	N	0.450649	0.631771	0.81001	D	1.245	0.31408	L	1.84	0.24656	T	-1.03	0.27052	N	0.493	0.52651	-0.9853	0.33760	T	0.070	0.28544	T	10	0.11672652	0.22027	T	0.01708	0.38630	T	0.141	0.37795	.	.	0.158540857583	0.15491	0.38031876254145325	0.37946	0.455994801244	0.45262	0.435278356075	0.29931	T	0.008445	0.07757	T	-0.361335	0.04055	T	-0.409638	0.32268	T	0.0585384209615634	0.06937	T	0.930707	0.74322	D	0.10515697	0.24861	0.051112376	0.08161	0.10515697	0.24861	0.051112376	0.08160	-10.613	0.77494	D	.	.	0.123	0.25882	B	.	.	3.756481	0.53871	23.4	0.99591303159716127	0.73631	0.71163	0.34896	D	AEFBHCI	0.379709	0.46263	N	0.232993487452714	0.52803	3.452343	0.272637521721509	0.53947	3.561401	0.994329635110365	0.33586	0.732398	0.92422	0	0.59043	0.45803	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	6.08	5.2	0.71720	1.750000	0.37956	9.783000	0.81608	0.618000	0.50648	0.962000	0.33725	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.5808:0.4192	13.630	0.61662	946	0.12043	Marvel domain|Marvel 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	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	700.33	34	chr3	32357422	.	G	A	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=705;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.738;SOR=0.874	GT:AD:DP:GQ:PL	0/1:33,28:61:99:714,0,773	18	0	1	0
chr3	36738589	36738589	C	T	exonic	DCLK3	.	nonsynonymous SNV	DCLK3:NM_033403:exon2:c.G71A:p.R24Q	.	428	1086	7	1	0	9	0.00412655	.	.	.	2827245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0070	0.00359425	0.0066	0.0024	0.0024	0.0001	0.0070	0.0090	0.0064	0.0054	0.0064488	997	154602	rs56070233	0.0096	0.0091	0.0097	0.0096	0.0107	0.0095	0.0094	0.0106	0.0105	0.0015	0.0037	0.0010	0	0.0094	0.0020	0.0107	0.0081	0.0055	0.0059	0.0059	0.0060	0.0057	0.0096	0.0056	0.0054	0.0090	0.0087	0.0016	0.0055	0.0054	0.0020	0.0002	0.0048	0	0.0096	0.0043	0.0050	0.017	0.51248	D	0.244	0.24123	T	0.983	0.60381	D	0.462	0.46509	P	.	.	.	.	0.917694	0.27366	N	2.535	0.73915	M	-0.41	0.69413	T	-0.68	0.19509	N	0.153	0.15749	-0.8260	0.53556	T	0.158	0.49178	T	9	0.006421715	0.00145	T	.	.	.	0.143	0.38195	.	.	0.825670268879	0.82401	0.07007910054653656	0.06944	0.267279357033	0.29270	0.345959246159	0.17325	T	0.018212	0.14721	T	-0.400386	0.02302	T	-0.337515	0.40627	T	0.0289347017189896	0.01827	T	0.842916	0.51943	T	0.115766086	0.27314	0.10042387	0.24010	0.115766086	0.27314	0.10042387	0.24009	-3.604	0.17915	T	.	.	0.102	0.26794	B	.;.	.;.	3.204664	0.43592	21.8	0.99949025522606161	0.99931	0.37581	0.25794	N	AEFBI	0.300269	0.40910	N	0.0806295534046454	0.45559	2.810481	0.0808397725441146	0.43586	2.657267	0.063287727864441	0.15290	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.22	5.22	0.72285	0.214000	0.17331	1.423000	0.26381	0.599000	0.40250	0.099000	0.22773	0.797000	0.26915	0.897000	0.43391	0.2189:0.7811:0.0:0.0	11.900	0.51956	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	1715.33	43	chr3	36738589	.	C	T	1715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=801;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1729,0,1332	18	0	1	0
chr3	39121070	39121070	A	G	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon8:c.A851G:p.Y284C,TTC21A:NM_001366899:exon9:c.A998G:p.Y333C,TTC21A:NM_001366900:exon9:c.A974G:p.Y325C,TTC21A:NM_145755:exon9:c.A998G:p.Y333C	.	425	1080	17	0	0	17	0.00780891	.	.	.	3221215	TTC21A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.060	0.00715128831217	0.0003	0.000399361	0.0010	0.0002	0.0014	0	0.0002	0.0014	0.0022	0.0004	0.0008667	134	154602	rs201536754	0.0008	0.0008	0.0008	0.0008	0.0101	0.0008	0.0007	0.0080	0.0072	0.0001	0.0028	0.0106	0	1.872e-05	0.0101	0.0005	0.0017	0.0004	0.0009	0.0009	0.0008	0.0010	0.0032	0.0008	0.0008	0.0025	0.0022	7.22e-05	0	0.0032	0.0110	0	0	0.0034	0.0007	0.0019	0.0002	0.245	0.17410	T	0.11	0.37310	T	0.003	0.11197	B	0.001	0.06944	B	0.559051	0.11355	N	0.800555	1	0.08975	N	0.75	0.19020	N	0.58	0.54149	T	-1.63	0.39119	N	0.08	0.07673	-1.0383	0.17832	T	0.066	0.27330	T	10	0.0040737092	0.00080	T	0.007151	0.18951	T	0.060	0.17295	.	.	0.414539908741	0.41071	0.09259233196301442	0.09191	0.160688802949	0.18139	0.221277058125	0.01385	T	0.007128	0.06547	T	-0.563235	0.00243	T	-0.585502	0.14058	T	0.00705704552161898	0.00080	T	0.675032	0.28342	T	0.07110289	0.15715	0.046708573	0.06570	0.07110289	0.15715	0.046708573	0.06569	-4.451	0.30243	T	.	.	0.062	0.01367	B	.;.	.;.	0.446493	0.08165	4.900	0.5272290911502977	0.04802	0.37682	0.25817	N	AEFGBI	0.095043	0.19209	N	-0.82054889926489	0.12786	0.625494	-0.753853610119121	0.15628	0.8228525	0.999658939015577	0.41424	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	5.95	2.25	0.27340	3.037000	0.49465	-0.223000	0.10745	0.756000	0.94297	0.115000	0.23085	0.000000	0.08366	0.001000	0.02609	0.5876:0.1626:0.0935:0.1563	2.192	0.03663	373	0.84140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.003788	0.02632	3019.33	38	chr3	39121070	.	A	G	3019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=879;ExcessHet=0;FS=2.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.539;SOR=0.569	GT:AD:DP:GQ:PL	0/1:118,124:242:99:3033,0,3008	18	0	1	0
chr3	44641962	44641962	G	C	exonic	ZNF197;ZNF660-ZNF197	.	nonsynonymous SNV	ZNF197:NM_001323296:exon5:c.G193C:p.D65H,ZNF197:NM_001323293:exon6:c.G832C:p.D278H,ZNF197:NM_006991:exon6:c.G832C:p.D278H,ZNF197:NM_001323295:exon7:c.G223C:p.D75H,ZNF660-ZNF197:NM_001351732:exon7:c.G832C:p.D278H,ZNF660-ZNF197:NM_001351733:exon7:c.G832C:p.D278H	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00793395599834	0.0026	0.000998403	0.0023	0.0008	0.0003	0	0.0008	0.0039	0.0012	6.757e-05	0.0021798	337	154602	rs148794995	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0004	0.0010	0.0010	0	0.0005	0.0010	0.0033	0.0020	3.486e-05	0.0018	0.0018	0.0019	0.0016	0.0027	0.0016	0.0015	0.0024	0.0023	0.0010	0	0.0015	0.0017	0	0.0006	0.0136	0.0027	0.0024	0.0004	0.597	0.05686	T	0.145	0.33000	T	0.994	0.66517	D	0.707	0.54387	P	0.057419	0.22483	N	0.223039	1	0.81001	D	0.69	0.16971	N	3.3	0.06368	T	-1.46	0.35792	N	0.392	0.43320	-0.9850	0.33832	T	0.015	0.05994	T	10	0.008803248	0.00199	T	0.007934	0.21033	T	0.067	0.19503	.	.	0.505211317368	0.50158	0.1247322050210679	0.12399	0.561683472197	0.52667	0.364371597767	0.20021	T	0.059519	0.31138	T	-0.574793	0.00207	T	-0.600216	0.12794	T	0.0266565248820667	0.01496	T	.	.	.	0.06396473	0.13522	0.05837907	0.10776	0.06396473	0.13522	0.05837907	0.10776	-4.552	0.31563	T	.	.	0.101	0.20857	B	.;.	.;.	3.454564	0.48119	22.6	0.98848374629935487	0.47254	0.06284	0.12277	N	AEFBCI	0.179830	0.30712	N	-0.00520636012048688	0.41619	2.492663	-0.00173339953684026	0.39638	2.353234	0.0236431733450834	0.13522	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.4	3.53	0.39533	1.215000	0.32035	4.907000	0.45915	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.998000	0.85391	0.2053:0.0:0.7947:0.0	6.874	0.23319	326	0.86709	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	570.33	34	chr3	44641962	.	G	C	570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=678;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.739;SOR=0.982	GT:AD:DP:GQ:PL	0/1:42,25:67:99:584,0,1150	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	0/1:61,47:108:99:1415,0,1858	17	0	2	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	51.69	33	chr3	48174283	.	C	G	51.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.121;DP=1411;ExcessHet=0.3672;FS=127.421;InbreedingCoeff=-0.0885;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.679;SOR=10.408	GT:AD:DP:GQ:PL	0/1:69,30:99:43:43,0,1022	16	0	3	0
chr3	48633592	48633592	C	G	exonic	SLC26A6	.	nonsynonymous SNV	SLC26A6:NM_001040454:exon1:c.G4C:p.D2H,SLC26A6:NM_001281732:exon2:c.G67C:p.D23H,SLC26A6:NM_001281733:exon2:c.G67C:p.D23H,SLC26A6:NM_022911:exon2:c.G67C:p.D23H,SLC26A6:NM_134263:exon2:c.G67C:p.D23H,SLC26A6:NM_134426:exon2:c.G67C:p.D23H	.	407	1107	7	1	0	9	0.00404858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	0.0018	0.00299521	0.0030	0.0024	0.0044	0	0	0.0039	0.0101	0.0011	0.0003558	55	154602	rs193176261	0.0023	0.0023	0.0023	0.0024	0.0113	0.0023	0.0022	0.0091	0.0083	0.0023	0.0046	0.0304	2.519e-05	9.462e-05	0.0113	0.0017	0.0048	0.0006	0.0025	0.0025	0.0026	0.0024	0.0050	0.0023	0.0022	0.0041	0.0038	0.0018	0	0.0050	0.0225	0	0.0002	0.0272	0.0017	0.0109	0.0008	0.012	0.59928	D	0.021	0.63918	D	0.151	0.30717	B	0.117	0.38358	B	.	.	.	.	0.999756	0.26487	N	0.345	0.11182	N	-3.08	0.93640	D	-1.21	0.36385	N	0.237	0.32701	0.249	0.86731	D	0.791	0.92924	D	9	0.004698992	0.00099	T	.	.	.	0.282	0.59981	.	.	0.80457792194	0.80274	0.46150374793851057	0.46068	0.254597488694	0.28029	0.58295238018	0.50501	T	0.030681	0.66135	T	-0.310032	0.07745	T	-0.212425	0.53463	T	0.0214555847510762	0.00849	T	0.755224	0.37818	T	0.14830953	0.33865	0.17394736	0.39756	0.14830953	0.33864	0.17394736	0.39755	-5.915	0.45800	T	.	.	0.119	0.37024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.319337	0.45644	22.2	0.98025994956380536	0.37674	0.55579	0.29899	D	AEFGBI	0.266498	0.38340	N	-0.227056879534691	0.32027	1.801905	-0.144173935976914	0.33634	1.925947	0.999999995554248	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.75	4.75	0.59954	0.218000	0.17407	5.902000	0.50901	0.599000	0.40250	0.021000	0.19753	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	15.277	0.73448	5	0.99359	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.024673	0.070707	0.031250	0.011696	0.050000	0.000000	0.000000	0.000000	0.02632	1388.33	33	chr3	48633592	.	C	G	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.64;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.987;SOR=0.638	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1402,0,2039	18	0	1	0
chr3	49108462	49108462	G	T	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon26:c.C3757A:p.P1253T,USP19:NM_001351103:exon26:c.C3802A:p.P1268T,USP19:NM_001351104:exon26:c.C3808A:p.P1270T,USP19:NM_001351106:exon26:c.C3802A:p.P1268T,USP19:NM_001351108:exon26:c.C3763A:p.P1255T,USP19:NM_001199161:exon27:c.C4105A:p.P1369T,USP19:NM_001199162:exon27:c.C4069A:p.P1357T,USP19:NM_001351098:exon27:c.C4066A:p.P1356T,USP19:NM_001351099:exon27:c.C4096A:p.P1366T,USP19:NM_001351101:exon27:c.C4105A:p.P1369T,USP19:NM_001351107:exon27:c.C4060A:p.P1354T	.	429	1085	6	1	1	9	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00279553	0.0087	0.0015	0.0123	0	0	0.0126	0.05	0.0022	0.0009185	142	154602	rs200833787	0.0023	0.0023	0.0022	0.0023	0.0089	0.0022	0.0022	0.0068	0.0060	0.0027	0.0063	0.0353	0.0002	7.212e-05	0.0089	0.0017	0.0051	0.0008	0.0029	0.0029	0.0030	0.0028	0.0066	0.0027	0.0026	0.0056	0.0052	0.0019	0	0.0066	0.0276	0	0	0.0374	0.0018	0.0118	0.0014	0.029	0.48186	D	0.37	0.19782	T	.	.	.	.	.	.	.	.	.	.	0.996697	0.23850	N	.	.	.	2.06	0.20523	T	-1.26	0.31778	N	0.218	0.25006	-1.0637	0.10855	T	0.029	0.12497	T	9	0.0037465394	0.00070	T	.	.	.	0.037	0.09474	.	.	0.143184338766	0.13958	.	.	.	.	.	.	.	.	.	.	-0.551398	0.00286	T	-0.560816	0.16301	T	0.00503155485836064	0.00054	T	0.814918	0.46941	T	.	.	.	.	.	.	.	.	-4.501	0.30902	T	.	.	0.060	0.00995	B	.;.;.	.;.;.	2.457845	0.31662	18.81	0.98054008758325639	0.37890	0.90737	0.52166	D	AEFDBI	0.221949	0.34651	N	-0.342163299314726	0.27560	1.513127	-0.202239065886087	0.31455	1.780362	0.736483490262638	0.23140	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.4	1.58	0.22557	0.360000	0.19987	0.018000	0.13546	0.676000	0.76740	0.994000	0.38300	0.390000	0.24659	0.998000	0.85391	0.3094:0.0:0.5508:0.1397	4.797	0.12644	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033800	0.069149	0.036145	0.010870	0.000000	0.000000	0.000000	0.000000	0.02632	840.33	37	chr3	49108462	.	G	T	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=787;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.529;SOR=0.744	GT:AD:DP:GQ:PL	0/1:52,37:89:99:854,0,1188	18	0	1	0
chr3	49791440	49791440	C	T	splicing	CDHR4	NM_001007540:exon18:c.2311+1G>A	.	.	.	423	1091	7	1	0	9	0.00410771	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00319489	0.0061	0.0019	0.0098	0	0	0.0122	0.0106	0.0007	0.0013001	201	154602	rs147683073	0.0025	0.0025	0.0025	0.0026	0.0118	0.0025	0.0024	0.0096	0.0087	0.0026	0.0061	0.0338	2.8e-05	6.1e-05	0.0118	0.0018	0.0060	0.0007	0.0033	0.0033	0.0033	0.0032	0.0080	0.0031	0.0030	0.0069	0.0064	0.0022	0	0.0080	0.0277	0	0	0.0479	0.0021	0.0128	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984885	0.40206	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.600851	0.00144	T	-0.630166	0.10402	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.217658	0.28299	17.75	0.61323535665788342	0.06680	0.08362	0.14301	N	AEFDBI	.	.	.	0.117092156748241	0.47261	2.954242	-0.211997840551692	0.31103	1.757218	0.999959909841783	0.48110	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.058706	0.01089	0	0.26604	0.33504	5.59	1.75	0.23707	0.446000	0.21410	0.536000	0.19291	-0.835000	0.02838	0.210000	0.24424	0.071000	0.22219	0.039000	0.14166	0.14:0.5697:0.1356:0.1547	3.179	0.06183	2	0.99499	.	.	.	.	.	.	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	1564.33	34	chr3	49791440	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=871;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.38;SOR=0.8	GT:AD:DP:GQ:PL	0/1:92,68:160:99:1578,0,2160	18	0	1	0
chr3	51993838	51993849	CCTTGGCCTTGG	-	exonic	RPL29	.	nonframeshift deletion	RPL29:NM_000992:exon4:c.380_391del:p.A127_K130del	.	605	636	130	74	77	355	0.179355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0105	.	0.0019	0.0190	0.0012	0.0005	0	0.0007	0	0.0003	0.0002305	6	26028	rs567070035	0.0010	0.0011	0.0011	0.0009	0.0208	0.0009	0.0009	0.0195	0.0190	0.0208	0.0014	0.0004	0.0016	0.0001	0.0044	0.0004	0.0021	0.0004	0.0100	0.0100	0.0099	0.0101	0.0337	0.0096	0.0094	0.0322	0.0316	0.0337	0	0.0022	0.0003	0.0027	9.47e-05	0.0034	0.0007	0.0096	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6586.2	33	chr3	51993837	.	TCCTTGGCCTTGG	T	6586.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=590;ExcessHet=0.6984;FS=0.455;InbreedingCoeff=0.0952;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=0;QD=23.52;ReadPosRankSum=-0.679;SOR=0.639	GT:AD:DP:GQ:PL	0/1:18,9:27:99:315,0,708	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	0/1:55,51:106:99:1410,0,1330	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|1:74,64:138:99:0|1:75730450_C_T:2465,0,2885:75730450	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	0/1:78,6:84:17:.:.:17,0,3190:.	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	0/1:115,35:150:99:.:.:563,0,4463:.	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	0/1:106,48:154:99:.:.:1596,0,4106:.	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|1:124,43:167:99:0|1:75736920_C_A:1412,0,5004:75736920	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|1:122,44:166:99:0|1:75736920_C_A:1459,0,4974:75736920	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	0/1:118,21:139:99:196,0,3635	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	0/1:120,35:155:99:500,0,3601	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	0/1:114,60:174:99:.:.:1242,0,3748:.	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|1:114,63:177:99:0|1:75737092_C_T:2302,0,4593:75737092	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|1:114,63:177:99:0|1:75737092_C_T:2302,0,4597:75737092	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|1:111,63:174:99:0|1:75737092_C_T:2311,0,4471:75737092	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|1:107,54:161:99:0|1:75737092_C_T:1945,0,4330:75737092	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|1:93,32:125:99:0|1:75737092_C_T:1064,0,3788:75737092	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|1:81,6:87:2:0|1:75737228_T_C:2,0,3353:75737228	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	0/1:80,91:171:99:.:.:3465,0,3060:.	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|1:118,109:227:99:0|1:75737590_A_G:4216,0,4614:75737590	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|1:123,116:239:99:0|1:75737590_A_G:4501,0,4816:75737590	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|1:121,119:240:99:0|1:75737590_A_G:4633,0,4723:75737590	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|1:122,110:232:99:0|1:75737590_A_G:4252,0,4792:75737590	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|1:109,101:210:99:0|1:75737590_A_G:3913,0,4273:75737590	0	0	19	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	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|1:146,45:191:99:0|1:75737881_T_C:1261,0,5807:75737881	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|1:149,37:186:99:0|1:75737881_T_C:1063,0,6075:75737881	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|1:147,36:183:99:0|1:75737881_T_C:1038,0,6002:75737881	1	0	18	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|1:184,30:214:99:0|1:75737994_T_C:677,0,7555:75737994	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|1:176,24:200:99:0|1:75737994_T_C:478,0,7318:75737994	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|1:177,14:191:55:0|1:75737994_T_C:55,0,7390:75737994	11	0	7	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	0/1:112,23:135:99:240,0,3444	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	0/1:69,32:101:99:676,0,2023	1	0	18	0
chr3	97959130	97959130	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C602T:p.P201L,RIOX2:NM_001261829:exon4:c.C602T:p.P201L,RIOX2:NM_032778:exon4:c.C602T:p.P201L,RIOX2:NM_153182:exon4:c.C602T:p.P201L	.	424	1076	20	2	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0600294035795	0.0054	0.00279553	0.0057	0.0011	0.0086	0	0.0044	0.0077	0.0088	0.0018	0.0056791	878	154602	rs56183666	0.0069	0.0069	0.0070	0.0067	0.0102	0.0067	0.0067	0.0081	0.0075	0.0009	0.0080	0.0111	0	0.0037	0.0102	0.0077	0.0073	0.0012	0.0052	0.0052	0.0055	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0011	0	0.0077	0.0101	0.0002	0.0041	0.0102	0.0078	0.0080	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	.	.	.	2.03	0.20959	T	-9.16	0.98474	D	0.911	0.91276	-0.5538	0.66642	T	0.172	0.51405	T	10	0.0103621185	0.00231	T	0.060029	0.67865	D	0.480	0.77077	.	.	0.677007972574	0.67426	0.8165847900631961	0.81614	0.419956848209	0.42533	0.541483700275	0.44656	T	0.194756	0.55062	T	-0.162868	0.26320	T	-0.000610659	0.70296	D	0.179403686056173	0.19197	T	0.957304	0.94010	D	0.9434746	0.95602	0.93115646	0.97174	0.9434746	0.95602	0.93115646	0.97174	-13.665	0.92184	D	.	.	0.565	0.68098	P	.;.;.;.	.;.;.;.	5.286213	0.88757	29.7	0.99909547267073862	0.97949	0.98958	0.89172	D	AEFDBI	0.862216	0.78045	D	1.01259695378206	0.96120	14.32271	0.944203309665823	0.97226	15.78445	0.999999999999989	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.090000	0.93496	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.845	0.96701	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC 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	0.004532	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	619.33	33	chr3	97959130	.	G	A	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=662;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.921;SOR=0.951	GT:AD:DP:GQ:PL	0/1:17,22:39:99:633,0,419	18	0	1	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	14	0	5	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	4	0	7	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,40:118:99:0|1:98133456_ACCCC_A:1073,0,2814:98133456	7	0	5	7
chr3	98264780	98264780	A	G	exonic	OR5H6	.	nonsynonymous SNV	OR5H6:NM_001005479:exon1:c.A448G:p.I150V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.000804722537784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.507352	0.05127	N	1.332910	1	0.08975	N	0.665	0.16292	N	.	.	.	.	.	.	.	.	-1.0268	0.21494	T	0.029	0.12234	T	10	0.03802216	0.02194	T	8.05E-4	0.00629	T	.	.	0.306	0.27646	.	.	0.0593043815327894	0.05870	.	.	0.189243301749	0.00212	T	0.001644	0.01075	T	-0.410397	0.01975	T	-0.827284	0.01311	T	0.0466402419586564	0.04900	T	0.10199	0.01283	T	0.042621266	0.06497	0.026816418	0.00793	0.042621266	0.06496	0.026816418	0.00793	-3.631	0.18306	T	.	.	0.072	0.04356	B	.;.;.	.;.;.	-1.890002	0.00129	0.002	0.42842313126610915	0.03185	0.00139	0.00851	N	AEI	0.030977	0.03221	N	-2.52503465746352	0.00014	0.0006021608	-2.57978518766043	0.00015	0.0006691082	0.0025565459975026	0.09527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.19	-4.38	0.03371	-7.296000	0.00050	.	.	-4.312000	0.00033	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3238:0.1509:0.2236:0.3018	0.132	0.00069	762	0.50290	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2591.33	169	chr3	98264780	.	A	G	2591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=2753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.689;SOR=0.714	GT:AD:DP:GQ:PL	0/1:128,99:227:99:2605,0,3355	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	0/1:149,37:186:99:190,0,3056	11	0	6	2
chr3	108554425	108554425	T	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon18:c.A2275G:p.I759V	.	561	935	21	5	0	31	0.0163072	.	.	.	2827615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0079	0.00678914	0.0151	0.0016	0.0152	0	0.0157	0.0210	0.0142	0.0136	0.0090684	1402	154602	rs13071874	0.0093	0.0098	0.0090	0.0095	0.0282	0.0092	0.0091	0.0245	0.0231	0.0012	0.0082	0.0216	2.558e-05	0.0118	0.0282	0.0092	0.0097	0.0113	0.0085	0.0085	0.0084	0.0086	0.0128	0.0081	0.0079	0.0108	0.0105	0.0016	0.0022	0.0103	0.0216	0	0.0107	0.0340	0.0114	0.0137	0.0128	0.671	0.04548	T	0.364	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.281368	0.963917	0.26004	N	1.61	0.41143	L	2.59	0.30133	T	-0.16	0.09460	N	0.051	0.03392	-1.0326	0.19618	T	0.031	0.13199	T	10	0.0028879046	0.00046	T	.	.	.	0.108	0.30607	.	.	0.409937222855	0.40610	0.04936724437716958	0.04879	0.123356630989	0.13895	0.384122222662	0.22839	T	0.003201	0.08027	T	-0.639528	0.00084	T	-0.678441	0.07079	T	0.00574206013498265	0.00063	T	0.733327	0.34901	T	0.028787773	0.02270	0.03298957	0.02120	0.028787773	0.02270	0.03298957	0.02120	-3.583	0.20700	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.728230	0.21999	15.44	0.97090227063027923	0.32319	0.68082	0.33669	D	AEFDBIJ	0.104944	0.20982	N	-0.194218152139997	0.33375	1.892736	-0.0284053599549227	0.38438	2.264582	0.999996611189207	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.567339	0.31927	0	.	.	5.15	5.15	0.70287	0.574000	0.23416	4.238000	0.42691	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.1488:0.1508:0.7004	5.505	0.16139	774	0.48577	.;.;.	.	.	.	.	rs13071874	Likely benign	0	0	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	0.019657	0.005102	0.027174	0.008772	0.000000	0.034483	0.012195	0.037879	0.05263	1578.83	34	chr3	108554425	.	T	C	1578.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=731;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.165;SOR=0.703	GT:AD:DP:GQ:PL	0/1:36,34:70:99:732,0,888	17	0	2	0
chr3	108853774	108853774	T	C	exonic	TRAT1	.	nonsynonymous SNV	TRAT1:NM_001317747:exon5:c.T347C:p.V116A,TRAT1:NM_016388:exon6:c.T458C:p.V153A	.	.	.	.	.	.	.	.	.	.	.	3617406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00488508948831	.	.	8.239e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs775809636	3.42e-06	3.42e-06	6.806e-06	0	0.0001	1e-06	7.3e-07	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	0	0	0	5.257e-05	5.253e-05	7.709e-05	2.691e-05	0.0002	2.557e-05	1.83e-05	9.569e-05	6.965e-05	0.0002	0	0	0	0	0	0	0	0	0	0.28	0.16683	T	0.4	0.15059	T	0.015	0.20876	B	0.016	0.20255	B	0.100825	0.19867	N	0.467182	1	0.08975	N	1.15	0.29295	L	1.33	0.35031	T	-2.16	0.48850	N	0.077	0.12198	-1.0465	0.15389	T	0.070	0.28740	T	10	0.07010335	0.10152	T	0.004885	0.12255	T	0.021	0.04004	0.217	0.13788	0.203808441222	0.19973	0.11508379137400579	0.11436	0.0422848965363	0.04555	0.3765630126	0.21767	T	0.463873	0.79965	T	-0.345104	0.05042	T	-0.551966	0.17138	T	0.0674939525320538	0.08295	T	0.392161	0.09760	T	0.06633625	0.14263	0.06367928	0.12650	0.06633625	0.14262	0.06367928	0.12650	-2.93	0.09446	T	.	.	0.094	0.14523	B	.;.	.;.	1.208830	0.16017	12.26	0.96194993196845202	0.29004	0.06291	0.12284	N	AEFI	0.078493	0.15837	N	-0.735270541006857	0.15036	0.7542575	-0.754359853945931	0.15616	0.8221388	3.09260678413671E-4	0.06454	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	5.33	2.9	0.32809	0.684000	0.25043	-0.414000	0.09328	0.665000	0.62972	0.029000	0.20367	0.000000	0.08366	0.007000	0.07825	0.0:0.1816:0.0:0.8184	7.022	0.24097	672	0.60758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1487.33	34	chr3	108853774	.	T	C	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=758;ExcessHet=0;FS=3.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.891;SOR=1.022	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1501,0,1943	18	0	1	0
chr3	111884471	111884471	A	G	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon2:c.A394G:p.T132A,PHLDB2:NM_001134439:exon2:c.A394G:p.T132A,PHLDB2:NM_145753:exon2:c.A394G:p.T132A,PHLDB2:NM_001134437:exon3:c.A475G:p.T159A	.	.	.	.	.	.	.	.	.	.	.	2759056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00737115204262	.	.	1.65e-05	0	8.64e-05	0	0	0	0	6.061e-05	1.29e-05	2	154602	rs758062645	3.968e-05	3.967e-05	3.675e-05	4.263e-05	0.0002	3.113e-05	2.846e-05	0.0001	0.0001	0	0.0001	0	0	3.744e-05	0	2.698e-05	3.311e-05	0.0002	3.283e-05	3.281e-05	0	6.714e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.634	0.11406	T	0.764	0.10572	T	0.0	0.11197	B	0.001	0.08700	B	0.198453	0.16662	N	0.605788	1	0.08975	N	0.915	0.23335	L	1.62	0.28189	T	-0.63	0.18459	N	0.126	0.11912	-1.0379	0.17954	T	0.020	0.08453	T	10	0.017507672	0.00374	T	0.007371	0.19550	T	0.011	0.01250	0.199	0.11247	0.213573922156	0.20996	0.2640916998863036	0.26322	0.0894054983916	0.10103	0.3739541471	0.21397	T	0.003975	0.06883	T	-0.470069	0.00849	T	-0.638699	0.09764	T	0.0147420784710852	0.00308	T	0.661834	0.27067	T	0.018174404	0.00338	0.020063557	0.00117	0.018174404	0.00338	0.020063557	0.00117	-3.328	0.14100	T	.	.	0.071	0.03925	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.294396	0.00443	0.009	0.49767003981163399	0.04267	0.04829	0.10556	N	AEFBCI	0.049654	0.08600	N	-1.70333076568256	0.00830	0.03589404	-1.70613725292476	0.01111	0.04991066	0.999904668350359	0.45458	0.706548	0.73137	0	0.59043	0.45803	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.24	-6.21	0.01887	-0.227000	0.09131	0.018000	0.13546	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.198:0.3661:0.0781:0.3579	2.421	0.04178	587	0.69154	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1428.33	35	chr3	111884471	.	A	G	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=759;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-2.144;SOR=0.863	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1442,0,1740	18	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	10708.3	35	chr3	111885119	.	TCCTGTG	T	10708.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.892;DP=1198;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.653;SOR=0.697	GT:AD:DP:GQ:PL	0/1:74,54:128:99:2037,0,2944	14	0	5	0
chr3	113657825	113657825	G	A	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.C3857T:p.P1286L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0157043218704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.089	0.40426	T	.	.	.	.	.	.	0.000050	0.53742	D	0.134693	0.999224	0.81001	D	.	.	.	2.37	0.15964	T	-1.92	0.44657	N	0.202	0.24385	-1.1002	0.04067	T	0.035	0.15247	T	10	0.13978449	0.26574	T	0.015704	0.36577	T	0.088	0.25558	0.169	0.07419	0.043077524339	0.03247	0.23263094539280815	0.23178	0.405131685381	0.41401	0.353787481785	0.18479	T	.	.	.	-0.118803	0.33320	T	-0.408429	0.32407	T	0.938524067401886	0.60921	D	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.15430	B	.;.	.;.	3.302813	0.45351	22.1	0.99314432848241596	0.59129	0.99579	0.97647	D	AEFBI	0.633933	0.61399	D	0.127843494598187	0.47764	2.997681	0.194798764072788	0.49560	3.157842	0.922875872007368	0.26723	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.78	4.89	0.63387	6.776000	0.74817	11.933000	0.99945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.8654:0.1346	16.152	0.81445	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3447.33	87	chr3	113657825	.	G	A	3447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1394;ExcessHet=0;FS=5.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-1.115;SOR=0.762	GT:AD:DP:GQ:PL	0/1:101,122:223:99:3461,0,2509	18	0	1	0
chr3	120168200	120168200	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon10:c.C1265T:p.S422L,GPR156:NM_153002:exon10:c.C1277T:p.S426L	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00184518602031	7.7e-05	0.00119808	0.0004	0	8.687e-05	0.0044	0	0.0002	0	0.0001	0.0003946	61	154602	rs192562612	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0	0.0003	0.0004	0.0045	0	0.0009	9.504e-05	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0005	0.0012	0.0066	0	0	0.0002	0	0.0002	0.205	0.21467	T	0.413	0.14500	T	0.002	0.09854	B	0.001	0.04355	B	0.534371	0.05276	N	1.269050	1	0.08975	N	1.21	0.30464	L	1.97	0.22067	T	-1.12	0.28906	N	0.061	0.03283	-1.0065	0.28004	T	0.037	0.16160	T	9	0.0034298897	0.00060	T	0.001845	0.03193	T	0.054	0.15330	.	.	0.0138822411134	0.00435	0.1441040982240516	0.14333	0.215792106592	0.24110	0.287955611944	0.08625	T	0.004393	0.03798	T	-0.70283	0.00035	T	-0.782076	0.02391	T	0.0110768497971508	0.00161	T	0.734027	0.34984	T	0.04433273	0.07067	0.08232319	0.18780	0.04433273	0.07066	0.08232319	0.18779	-3.665	0.18891	T	.	.	0.075	0.07985	B	.;.;.	.;.;.	0.327952	0.07020	3.581	0.88552818389788257	0.18067	0.06109	0.12085	N	AEFBI	0.052031	0.09249	N	-1.28539860746547	0.03850	0.1727532	-1.41376498403213	0.03114	0.1446157	0.999997595174801	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.65	-6.57	0.01674	0.299000	0.18892	0.182000	0.15643	-0.244000	0.07312	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	0.7247:0.1056:0.1696:0.0	12.040	0.52742	760	0.50470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.02632	1470.33	43	chr3	120168200	.	G	A	1470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=849;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.164;SOR=0.709	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1484,0,954	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	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	0/1:75,42:137:99:167,0,1152	4	0	13	2
chr3	123161429	123161429	G	T	exonic	PDIA5	.	nonsynonymous SNV	PDIA5:NM_006810:exon16:c.G1453T:p.A485S	.	432	1089	1	0	0	1	0.000458926	.	.	.	2357996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0129014834022	.	.	0.0004	9.626e-05	0	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143043425	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.987e-05	0	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.665e-05	7.256e-05	0.0001	8.876e-05	9.65e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.737	0.03730	T	0.743	0.04930	T	0.008	0.14655	B	0.032	0.22131	B	0.917767	0.08508	N	0.966428	1	0.08975	N	0.365	0.12025	N	3.92	0.03462	T	-0.12	0.08809	N	0.104	0.08786	-0.8966	0.48331	T	0.007	0.02360	T	10	0.022210926	0.00549	T	0.012901	0.31871	T	0.036	0.09122	.	.	0.112648838833	0.10856	0.6093781763751679	0.60869	0.0679411648131	0.07611	0.267855674028	0.05863	T	0.018602	0.14967	T	-0.518997	0.00446	T	-0.644887	0.09317	T	0.0111237652415482	0.00162	T	0.789921	0.43036	T	0.020126518	0.00561	0.03338597	0.02224	0.020126518	0.00560	0.03338597	0.02223	-3.724	0.19673	T	.	.	0.077	0.06525	B	.	.	-0.003961	0.04254	1.055	0.74558775646986108	0.10740	0.27769	0.23369	N	AEFDBHCI	0.562150	0.56986	D	-1.4218501526268	0.02447	0.1080887	-1.37425613048961	0.03528	0.1647716	0.58449642951994	0.21597	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.32	-0.324	0.12076	0.849000	0.27375	1.041000	0.23557	-0.740000	0.03671	0.161000	0.23811	0.000000	0.08366	0.266000	0.23669	0.2912:0.1193:0.5895:0.0	8.488	0.32242	831	0.39019	Thioredoxin domain|Thioredoxin 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	0.000000	0.003788	0.02632	1240.33	42	chr3	123161429	.	G	T	1240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.52;SOR=0.705	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1254,0,800	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	0/1:70,25:95:99:.:.:127,0,1381:.	3	0	16	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	0/1:24,34:58:99:835,0,575	17	0	2	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T,ATR:NM_001184:exon35:c.T5987C:p.M1996T	Seckel syndrome 1, Autosomal recessive	2	1490	29	1	0	31	0.0102956	.	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided|Seckel_syndrome_1	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related 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	1	0	1	0	0.006546	0.000000	0.000000	0.008772	0.100000	0.000000	0.009146	0.011364	0.02632	1902.33	33	chr3	142493223	.	A	G	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.247;DP=794;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.808;SOR=0.772	GT:AD:DP:GQ:PL	0/1:84,83:167:99:1916,0,2105	18	0	1	0
chr3	148844683	148844683	T	C	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon8:c.T694C:p.F232L	.	438	1075	9	0	0	9	0.0041686	.	.	.	3199619	CPB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0055	0.0155751	0.0122	0.0119	0.0718	0.0383	0.0006	0.0023	0.0099	0.0018	0.0110413	1707	154602	rs73866671	0.0052	0.0052	0.0055	0.0049	0.0592	0.0051	0.0050	0.0573	0.0565	0.0131	0.0592	0.0013	0.0357	0.0005	0.0059	0.0022	0.0062	0.0023	0.0084	0.0084	0.0079	0.0089	0.0400	0.0080	0.0078	0.0355	0.0338	0.0119	0	0.0249	0.0017	0.0400	9.411e-05	0.0068	0.0021	0.0099	0.0033	0.112	0.28900	T	0.198	0.27767	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	N	0.146556	0.983727	0.24861	N	-0.925	0.01302	N	1.79	0.25509	T	0.49	0.07444	N	0.153	0.15749	-1.0421	0.16681	T	0.006	0.02206	T	10	0.0076907873	0.00175	T	.	.	.	0.124	0.34239	0.722	0.85673	.	.	0.8108561223526667	0.81040	0.230685163225	0.25618	0.520207822323	0.41656	T	0.040412	0.25519	T	-0.532169	0.00373	T	-0.489305	0.23464	T	0.0203023193476111	0.00730	T	0.507849	0.20265	T	0.43253073	0.62917	0.21916755	0.46646	0.43253073	0.62918	0.21916755	0.46645	-0.253	0.00452	T	.	.	0.564	0.68479	A	.;.;.	.;.;.	1.715739	0.21842	15.37	0.97993574251112581	0.37423	0.93201	0.57589	D	AEFI	0.749395	0.69084	D	-0.545118508627888	0.20637	1.089359	-0.296155887677446	0.28225	1.572031	0.159999231080481	0.17578	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	4.62	0.56946	4.979000	0.63525	4.566000	0.43861	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.8662:0.0:0.0:0.1338	12.057	0.52838	521	0.74284	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	722.33	38	chr3	148844683	.	T	C	722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.652;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.011;SOR=0.58	GT:AD:DP:GQ:PL	0/1:39,29:68:99:736,0,1113	18	0	1	0
chr3	149050327	149050327	C	G	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon15:c.G1519C:p.V507L,HLTF:NM_001318935:exon15:c.G1522C:p.V508L,HLTF:NM_003071:exon15:c.G1522C:p.V508L,HLTF:NM_139048:exon15:c.G1522C:p.V508L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0439677558881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.931e-07	6.841e-07	0	1.392e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.678e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.574	0.08685	T	0.15	0.27995	B	0.087	0.29615	B	.	.	.	.	0.967189	0.38578	D	1.345	0.33447	L	-3.37	0.94114	D	-0.22	0.10480	N	0.096	0.08506	0.186	0.85674	D	0.678	0.88877	D	9	0.26365924	0.43845	T	0.043968	0.61252	D	0.256	0.56694	0.54	0.65161	0.960386095974	0.95996	0.3920947321579241	0.39124	0.535463457308	0.50911	0.618199467659	0.55474	T	0.232642	0.59925	T	0.039675	0.57004	T	-0.180786	0.56451	T	0.388529142940372	0.28509	T	0.89841	0.64469	D	0.077795774	0.17678	0.13647489	0.32647	0.077795774	0.17678	0.13647489	0.32646	-4.939	0.36171	T	.	.	0.491	0.64192	A	.;.;.;.	.;.;.;.	3.179545	0.43155	21.7	0.97927649426124697	0.36935	0.79117	0.39145	D	AEFBI	0.114009	0.22472	N	0.0261251517574081	0.43045	2.605262	0.210582949575582	0.50435	3.23546	0.996392646164195	0.34715	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	1.880000	0.39263	7.560000	0.60459	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9202:0.0:0.0798	12.069	0.52905	906	0.23090	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-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	.	.	.	.	.	.	.	.	0.02632	1187.33	37	chr3	149050327	.	C	G	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.732;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.393;SOR=0.713	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1201,0,799	18	0	1	0
chr3	151445177	151445177	C	A	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.G4804T:p.E1602X,IGSF10:NM_001385060:exon6:c.G4804T:p.E1602X,IGSF10:NM_178822:exon6:c.G4804T:p.E1602X,IGSF10:NM_001385062:exon7:c.G4804T:p.E1602X,IGSF10:NM_001385063:exon7:c.G4804T:p.E1602X	.	436	1084	2	0	0	2	0.000921659	.	.	.	733877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00279553	0.0026	0.0004	0.0019	0.0037	0.0003	0.0026	0.0011	0.0053	0.0026843	415	154602	rs79363433	0.0035	0.0035	0.0033	0.0036	0.0062	0.0034	0.0033	0.0056	0.0054	0.0004	0.0015	0.0012	0.0062	0.0002	0.0016	0.0036	0.0033	0.0054	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0033	0.0028	0.0006	0.0022	0.0018	0.0012	0.0044	0	0.0102	0.0032	0.0014	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.215678	0.16259	N	0.511109	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410788	0.57187	T	0.287735	0.87534	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.472085	0.95267	34	0.98807294647819333	0.46558	0.35912	0.25412	N	AEFBIJ	0.137410	0.25839	N	0.344421690677322	0.58446	4.016855	0.0533158814760486	0.42233	2.550888	0.99998934215917	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	4.88	0.63131	1.337000	0.33467	1.298000	0.25456	0.599000	0.40250	0.105000	0.22895	0.006000	0.19429	0.006000	0.07323	0.0:0.8493:0.1507:0.0	14.046	0.64225	813	0.42397	.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	3346.33	34	chr3	151445177	.	C	A	3346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=847;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.094;SOR=0.791	GT:AD:DP:GQ:PL	0/1:74,126:200:99:3360,0,1638	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,41:114:99:0|1:155853644_G_C:630,0,2081:155853644	8	0	10	1
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,38:220:99:0|1:157381266_G_C:979,0,7454:157381266	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,39:221:99:0|1:157381266_G_C:1004,0,7451:157381266	9	0	7	3
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_001167912:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_024621:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5885.78	34	chr3	157381271	.	AGGTGT	A	5885.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	15	0	4	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	5	0	6	8
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1096.8	48	chr3	157381273	.	G	*	1096.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	8	0	4	7
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1702.6	48	chr3	157381275	.	G	*	1702.6	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	13	0	4	2
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_001167912:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_024621:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3348.89	48	chr3	157381276	.	T	TCCCCC	3348.89	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.683;DP=1968;ExcessHet=0.7564;FS=96.049;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.65;ReadPosRankSum=1.12;SOR=10.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,40:207:99:0|1:157381266_G_C:1060,0,6829:157381266	14	0	4	1
chr3	167621517	167621517	G	T	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.C733A:p.P245T,WDR49:NM_001348952:exon4:c.C733A:p.P245T,WDR49:NM_001366157:exon4:c.C733A:p.P245T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00790111578278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.20002	T	0.042	0.50226	D	0.802	0.45105	P	0.272	0.39956	B	.	.	.	.	1	0.81001	D	.	.	.	1.87	0.24085	T	-2.78	0.71397	D	0.445	0.48319	-1.1133	0.02801	T	0.047	0.20156	T	8	0.5021648	0.61611	D	0.007901	0.20955	T	0.163	0.42028	0.737	0.86978	0.154104182512	0.14974	.	.	.	.	.	.	.	.	.	.	-0.141858	0.29595	T	-0.441545	0.28636	T	0.688551485538483	0.40181	D	0.727127	0.36078	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.39012	B	.;.;.;.	.;.;.;.	3.037682	0.40717	21.2	0.99523887181343496	0.69407	0.92497	0.55850	D	AEFI	0.472806	0.51776	N	0.0259993990291191	0.43040	2.604807	0.107110514496044	0.44911	2.763825	0.00743831054080605	0.11465	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.54	0.55220	3.657000	0.54214	2.946000	0.35689	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0784:0.0:0.9216:0.0	13.247	0.59458	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	.	.	.	.	.	.	.	.	0.02632	1981.33	34	chr3	167621517	.	G	T	1981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.042;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-1.014;SOR=0.715	GT:AD:DP:GQ:PL	0/1:45,75:120:99:1995,0,976	18	0	1	0
chr3	172344199	172344199	G	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon19:c.G2191A:p.G731S,FNDC3B:NM_022763:exon19:c.G2191A:p.G731S	.	.	.	.	.	.	.	.	.	.	.	3973581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0045817322432	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780973777	4.789e-06	4.788e-06	5.445e-06	4.125e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.03085	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.000003	0.62929	D	0.142094	0.999873	0.50225	D	-0.29	0.03673	N	0.57	0.54347	T	-0.88	0.23808	N	0.235	0.27554	-0.9951	0.31272	T	0.053	0.22655	T	10	0.104201496	0.19198	T	0.004582	0.11315	T	0.092	0.26621	0.313	0.28774	0.193917141947	0.19028	0.30400730492785727	0.30313	0.275911508279	0.30067	0.419240087271	0.27732	T	0.039376	0.25168	T	-0.202084	0.20505	T	-0.528056	0.19480	T	0.206782404183951	0.20784	T	0.813219	0.46599	T	0.059491877	0.12097	0.072385736	0.15610	0.059491877	0.12097	0.072385736	0.15610	-3.843	0.21448	T	.	.	0.113	0.24700	B	.;.;.	.;.;.	3.061747	0.41119	21.3	0.53494747732594505	0.04951	0.94358	0.60911	D	AEFBI	0.384034	0.46531	N	-0.461428158800756	0.23354	1.253549	-0.231712633083585	0.30408	1.711766	0.999993379506561	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.91	5.03	0.67015	3.275000	0.51342	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.2549:0.0:0.7451:0.0	5.662	0.16951	845	0.36510	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1571.33	35	chr3	172344199	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.38;SOR=0.696	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1585,0,1719	18	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	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	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,33:189:66:.:.:66,0,3379:.	14	0	5	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	0/1:48,53:101:99:1252,0,1093	17	0	2	0
chr3	186620776	186620776	G	A	exonic	AHSG	.	nonsynonymous SNV	AHSG:NM_001354573:exon6:c.G866A:p.R289H,AHSG:NM_001354571:exon7:c.G953A:p.R318H,AHSG:NM_001354572:exon7:c.G947A:p.R316H,AHSG:NM_001622:exon7:c.G950A:p.R317H	.	419	1102	1	0	0	1	0.000453515	.	.	YES	481154	Alopecia-intellectual_disability_syndrome_1	MONDO:MONDO:0021035,MedGen:C1859878,OMIM:203650	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.155	0.0104644665876	0.0002	0.000399361	8.249e-05	9.664e-05	8.646e-05	0	0	6.003e-05	0	0.0002	9.06e-05	14	154602	rs201849460	7.388e-05	7.388e-05	6.534e-05	8.25e-05	0.0003	6.248e-05	5.807e-05	0.0002	0.0002	0	0.0002	0	2.519e-05	0	0	5.935e-05	0.0001	0.0003	7.224e-05	7.218e-05	8.997e-05	5.372e-05	0.0006	3.969e-05	3.126e-05	0.0002	9.014e-05	4.813e-05	0	0	0	0	0	0	8.822e-05	0	0.0006	0.002	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.987	0.77487	D	0.126003	0.18821	N	0.476987	0.946655	0.26624	N	2.505	0.72935	M	3.09	0.08460	T	-2.11	0.48020	N	0.56	0.74553	-1.1152	0.02659	T	0.060	0.24981	T	10	0.40598676	0.55895	T	0.010464	0.27023	T	0.155	0.40530	.	.	0.569101917167	0.56574	0.34989199239960084	0.34903	0.503748791046	0.48683	0.466874361038	0.34252	T	0.420399	0.77212	T	-0.331399	0.06006	T	-0.42166	0.30885	T	0.109173275597811	0.13337	T	0.864214	0.56114	D	0.104659885	0.24742	0.1021929	0.24486	0.084728524	0.19623	0.11312034	0.27297	-2.967	0.09830	T	.	.	0.184	0.39832	B	.;.	.;.	3.732557	0.53402	23.4	0.99903793928295981	0.97502	0.33212	0.24774	N	AEFDBHCI	0.703684	0.65964	D	0.175344635353657	0.50016	3.195922	0.00601018280282631	0.39992	2.379822	0.99999984341093	0.74766	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	5.47	2.59	0.30091	1.543000	0.35754	7.295000	0.58069	0.671000	0.69459	0.491000	0.26886	1.000000	0.68203	0.078000	0.17132	0.0887:0.3339:0.5774:0.0	7.225	0.25185	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	37	chr3	186620776	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.6;SOR=0.732	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1921,0,1584	18	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1333	33235.5	441	chr3	195778917	.	G	*	33235.5	.	AC=4;AF=0.133;AN=30;BaseQRankSum=3.61;DP=6934;ExcessHet=4.595;FS=4.108;InbreedingCoeff=-0.3196;MLEAC=5;MLEAF=0.167;MQ=56.41;MQRankSum=-4.995;QD=9.52;ReadPosRankSum=-0.848;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,57:327:99:0|1:195778917_G_C:3051,0,8993:195778917	11	0	4	4
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	45498.8	626	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	45498.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.89;DP=8901;ExcessHet=4.0818;FS=1.787;InbreedingCoeff=-0.2179;MLEAC=4;MLEAF=0.105;MQ=55.88;MQRankSum=-5.582;QD=8.72;ReadPosRankSum=-2.868;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:463,57:571:99:0|1:195778917_G_C:1618,0,18704:195778917	15	0	4	0
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|1:284,51:356:99:0|1:195778916_CGTGA_C:1652,0,11640:195778916	5	1	5	8
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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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	1/1:3,140:143:99:.:.:6140,304,0:.	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	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	0/1:15,135:150:32:.:.:5372,0,32:.	5	6	2	6
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,271:465:99:1|0:195780492_AGGGGTGGCCT_A:10547,0,7267:195780492	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	0	5	10
chr3	195780590	195780590	G	0	exonic	MUC4	.	.	.	.	755	498	22	0	247	269	0.021611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	301.13	579	chr3	195780590	.	G	*	301.13	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.87;DP=6561;ExcessHet=2.5072;FS=1.283;InbreedingCoeff=0.0198;MLEAC=7;MLEAF=0.389;MQ=50.81;MQRankSum=11.14;QD=0.13;ReadPosRankSum=2.14;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	0	4	10
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3437.39	679	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	3437.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.22;DP=9158;ExcessHet=0.7564;FS=3.274;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.05;MQRankSum=-9.668;QD=1.05;ReadPosRankSum=-3.2;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,55:724:99:0|1:195781522_A_G:209,0,27596:195781522	15	0	4	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	354.08	679	chr3	195781535	.	C	*	354.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.668;DP=9232;ExcessHet=1.3;FS=3.311;InbreedingCoeff=-0.1692;MLEAC=4;MLEAF=0.111;MQ=58.31;MQRankSum=-16.18;QD=0.09;ReadPosRankSum=-5.596;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,55:724:99:0|1:195781522_A_G:209,0,27596:195781522	14	0	4	1
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	0/1:458,59:569:99:.:.:972,0,20721:.	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	1/0:0,211:396:99:.:.:14318,5884,6871:.	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|1:163,103:266:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2043,0,6442:195781775	7	1	10	1
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|0:70,182:444:99:1|0:195782548_ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT_A:11192,3546,13142:195782548	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|1:272,182:454:99:0|1:195782557_G_*:5250,0,16044:195782557	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	0/1:107,182:391:99:9481,3890,13373	6	0	6	7
chr3	195783739	195783739	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T7841C:p.L2614P,MUC4:NM_001322468:exon7:c.T7793C:p.L2598P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0.0667	0.25	.	.	.	0.05	.	0	0.0009605	25	26028	rs764992987	0.0155	0.0012	0.0143	0.0166	0.0556	0.0142	0.0136	0.0402	0.0350	0.0556	0.0134	0.0144	0.0046	0.0092	0	0.0108	0.0148	0.0334	0	0.0080	0	0	.	0	0	.	.	.	.	.	.	.	.	.	0	.	.	0.201	0.25664	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.984714	0.24776	N	.	.	.	1.24	0.36691	T	-0.25	0.11008	N	0.067	0.05542	-1.0117	0.26385	T	0.046	0.19640	T	5	0.002751112	0.00043	T	.	.	.	0.021	0.04004	.	.	.	.	0.0013921414159647548	0.00128	.	.	0.503696978092	0.39342	T	.	.	.	-0.350107	0.04721	T	-0.740681	0.03862	T	0.0149376645411832	0.00318	T	0.408659	0.10529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00730	B	.;.	.;.	0.321266	0.06959	3.506	0.17937263249226953	0.00543	0.00028	0.00265	N	AEFBI	0.022344	0.01105	N	-1.00562698779696	0.08486	0.3980915	-1.22102010087203	0.05573	0.2659155	1.55833964054938E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.756000	0.04882	-2.185000	0.04088	-2.028000	0.00431	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3475:0.0:0.6525:0.0	3.806	0.08293	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	0.180412	0.140000	0.500000	0.155172	0	0.500000	0.107143	0.142857	1.0	54.98	47	chr3	195783739	.	A	G	54.98	.	AC=2;AF=1;AN=2;DP=1027;ExcessHet=0;FS=0;InbreedingCoeff=0.3461;MLEAC=5;MLEAF=1;MQ=46;QD=27.49;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	18
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	2631.34	1686	chr3	195785314	.	A	AC	2631.34	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.56;DP=17159;ExcessHet=0.3672;FS=1.913;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.094;MQ=57.24;MQRankSum=-2.505;QD=1.25;ReadPosRankSum=1.93;SOR=0.789	GT:AD:DP:GQ:PL	0/1:933,79:1012:71:71,0,37350	13	0	3	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	573736.0	1545	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	573736.0	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.84;DP=17971;ExcessHet=0;FS=0;InbreedingCoeff=0.6577;MLEAC=2;MLEAF=0.056;MQ=57.37;MQRankSum=-0.512;QD=26.8;ReadPosRankSum=0.165;SOR=0.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,61:999:26:.:.:42644,33350,37388:.	16	0	2	1
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|1:552,150:702:99:0|1:195786255_G_A:4039,0,21160:195786255	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	0/1:1,5:15:34:.:.:202,0,34:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,5:13:99:0|1:195787238_C_*:457,251,279:195787238	10	0	6	3
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|0:1,5:11:99:0|1:195787238_C_*:365,162,195:195787238	7	0	7	5
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	725.76	4	chr3	195787598	.	GCAT	G	725.76	.	AC=6;AF=0.188;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=6;MLEAF=0.188;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	13	3	0	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|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	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|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	4	8	1	6
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	0/1:111,133:244:99:3522,0,3198	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	0/1:55,81:136:99:2120,0,1383	17	0	2	0
chr4	5990061	5990061	T	G	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.A1448C:p.E483A,C4orf50:NM_001364689:exon6:c.A1985C:p.E662A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910865705	5.02e-06	5.472e-06	6.396e-06	3.509e-06	4.052e-06	1.81e-06	1.19e-06	9.5e-07	6.4e-07	0	0	0	0	3.774e-05	0	4.052e-06	2.017e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09142634	0.16014	T	.	.	.	.	.	.	.	.	.	0.0129749585030533	0.01255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412859	0.10744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38924	B	.	.	-0.662695	0.01410	0.083	0.78770085837858606	0.12445	0.05379	0.11242	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	4.99968734435668E-4	0.07150	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.062806	0.01542	0	0.169074	0.28792	3.19	-3.77	0.04062	-1.866000	0.01739	0.308000	0.17052	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.0:0.6461:0.3539	10.726	0.45266	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	.	.	.	.	.	.	.	.	0.02778	57.96	.	chr4	5990061	.	T	G	57.96	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.328;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.097;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.328;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,112	17	0	1	1
chr4	6302180	6302180	-	GAC	exonic	WFS1	.	nonframeshift insertion	WFS1:NM_001145853:exon8:c.2385_2386insGAC:p.D797_V798insD,WFS1:NM_006005:exon8:c.2385_2386insGAC:p.D797_V798insD	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1484	35	2	1	40	0.0129697	.	.	.	54621	WFS1-related_disorder|not_specified|not_provided	MONDO:MONDO:0700293,MedGen:CN379391|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0019	0.0003	0.0006	0	0.0012	0.0013	0	0.0076	0.00073	19	26028	rs1414522372	0.0014	0.0014	0.0011	0.0017	0.0092	0.0014	0.0014	0.0087	0.0085	0.0001	0.0011	0.0012	0	0.0008	0.0061	0.0009	0.0017	0.0092	0.0012	0.0012	0.0010	0.0015	0.0079	0.0011	0.0010	0.0059	0.0052	0.0003	0	0.0025	0.0014	0.0002	0.0008	0.0136	0.0011	0.0019	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006552	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.011364	0.02632	2017.29	165	chr4	6302180	.	G	GGAC	2017.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=1878;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/1:72,54:126:99:2031,0,2817	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	0/1:100,38:138:99:509,0,2471	1	0	18	0
chr4	7715209	7715209	C	T	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon17:c.C2150T:p.S717F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00969530680938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.028	0.55759	D	0.868	0.47740	P	0.23	0.38212	B	0.204987	0.16505	N	0.539238	1	0.08975	N	1.845	0.48678	L	2.47	0.14783	T	-2.47	0.54382	N	0.34	0.38848	-1.0240	0.22410	T	0.034	0.14464	T	10	0.29984456	0.47534	T	0.009695	0.25313	T	0.044	0.11924	0.273	0.22369	0.620522651735	0.61745	0.4942025735143953	0.49341	0.356417376244	0.37388	0.348609834909	0.17717	T	0.093011	0.39122	T	-0.243118	0.14954	T	-0.586998	0.13927	T	0.869669556617737	0.51959	D	0.772323	0.40326	T	0.11403268	0.26925	0.13902321	0.33183	0.11403268	0.26925	0.13902321	0.33182	-8.532	0.64641	D	.	.	0.090	0.12655	B	.;.	.;.	2.923592	0.38820	20.8	0.99030150226247915	0.50786	0.07286	0.13308	N	AEFDBI	0.063835	0.12359	N	-0.286913674179456	0.29652	1.646311	-0.402370733466119	0.24928	1.367853	0.956061821952585	0.28225	0.516011	0.20929	0	0.59043	0.45803	0	0.425852	0.06454	2	0.586402	0.36253	0	.	.	3.71	3.71	0.41733	0.597000	0.23759	2.026000	0.30231	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.313000	0.24807	0.0:0.8076:0.0:0.1924	7.584	0.27150	988	0.01987	Sortilin, C-terminal|VPS10;Sortilin, C-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1582.33	228	chr4	7715209	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.724;DP=2963;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.678;SOR=0.596	GT:AD:DP:GQ:PL	0/1:111,68:179:99:1596,0,2920	18	0	1	0
chr4	8227413	8227413	G	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1491T:p.R497S,SH3TC1:NM_018986:exon12:c.G1719T:p.R573S	.	408	1100	14	0	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	.	0.0014	0.00259585	0.0032	0	0.0017	0.0001	0.0033	0.0031	0.0026	0.0111	0.0030401	470	154602	rs141562329	0.0024	0.0025	0.0022	0.0027	0.0100	0.0024	0.0024	0.0094	0.0092	0.0002	0.0022	0.0001	7.659e-05	0.0033	0.0026	0.0021	0.0018	0.0100	0.0020	0.0020	0.0019	0.0022	0.0110	0.0018	0.0018	0.0086	0.0078	0.0001	0	0.0020	0	0.0010	0.0038	0	0.0025	0.0005	0.0110	0.002	0.72154	D	0.008	0.67890	D	0.917	0.50750	P	0.637	0.51992	P	0.010654	0.29839	N	0.373920	1	0.08975	N	2.36	0.67893	M	-1.31	0.79666	T	-3.18	0.64478	D	0.122	0.11340	-0.4606	0.70048	T	0.448	0.78342	T	10	0.008080214	0.00183	T	.	.	.	0.326	0.64826	0.641	0.77795	0.774564854132	0.77249	0.37368514507220196	0.37282	0.0584021036236	0.06474	0.614163815975	0.54904	T	0.059957	0.31257	T	-0.379381	0.03143	T	-0.309912	0.43669	T	0.0892190346718984	0.11124	T	0.746125	0.36682	T	0.25142437	0.48151	0.25987086	0.51742	0.25142437	0.48150	0.25987086	0.51741	-8.303	0.63115	D	.	.	0.431	0.61254	A	.	.	2.533157	0.32752	19.14	0.9948958265085367	0.67347	0.72923	0.35679	D	AEFDBCI	0.303188	0.41122	N	-0.00514594820015193	0.41622	2.492886	-0.0387525630370364	0.37980	2.231306	0.999970267004375	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.51	2.42	0.28720	0.832000	0.27143	0.858000	0.22201	-0.968000	0.01952	0.397000	0.26145	0.173000	0.23359	0.550000	0.30174	0.2842:0.0:0.7158:0.0	10.234	0.42445	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	0.003024	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.018939	0.02632	555.33	34	chr4	8227413	.	G	T	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.079;DP=959;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.256;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,24:51:99:569,0,883	18	0	1	0
chr4	8232023	8232023	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2770G:p.M924V,SH3TC1:NM_018986:exon13:c.A2998G:p.M1000V	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0076	0.00439297	0.0075	0.0020	0.0104	0.0001	0.0015	0.0099	0.0088	0.0054	0.0074126	1146	154602	rs146877451	0.0093	0.0093	0.0094	0.0093	0.0147	0.0092	0.0092	0.0122	0.0113	0.0019	0.0110	0.0044	0.0001	0.0024	0.0147	0.0105	0.0088	0.0060	0.0079	0.0079	0.0081	0.0077	0.0169	0.0075	0.0074	0.0152	0.0146	0.0020	0.0022	0.0169	0.0075	0	0.0024	0.0102	0.0112	0.0095	0.0050	1.0	0.00964	T	0.545	0.09588	T	0.001	0.07471	B	0.006	0.12133	B	0.869057	0.07164	N	1.059180	1	0.08975	N	0.885	0.21608	L	-0.9	0.74896	T	-0.59	0.17624	N	0.32	0.36043	-1.0194	0.23910	T	0.133	0.44524	T	10	0.005713284	0.00127	T	.	.	.	0.126	0.34673	.	.	0.407767136052	0.40396	0.19877772153993326	0.19794	0.0269784543744	0.02755	0.347499221563	0.17553	T	0.001755	0.01176	T	-0.421108	0.01683	T	-0.365993	0.37356	T	0.00322139377332797	0.00034	T	0.693931	0.30359	T	0.10272062	0.24275	0.06241503	0.12208	0.10272062	0.24274	0.06241503	0.12208	-6.655	0.51471	T	.	.	0.083	0.09143	B	.	.	-0.771593	0.01164	0.055	0.61548457451166827	0.06736	0.08101	0.14071	N	AEFBCI	0.107787	0.21463	N	-1.03118552391547	0.07962	0.3716787	-1.01041299243722	0.09555	0.4760869	0.999664706146666	0.41534	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	-0.534	0.11289	-0.658000	0.05429	-0.211000	0.10853	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.2259:0.3133:0.3324:0.1283	2.062	0.03375	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	0.009567	0.010101	0.010870	0.000000	0.000000	0.000000	0.015244	0.015152	0.05263	2469.83	34	chr4	8232023	.	A	G	2469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.238;DP=899;ExcessHet=0.119;FS=3.251;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1239,0,1838	17	0	2	0
chr4	8237492	8237492	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon17:c.G3347A:p.R1116H,SH3TC1:NM_018986:exon17:c.G3575A:p.R1192H	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.0780067011686	.	.	0.0004	0.0002	0.0002	0	0	0.0003	0	0.0013	0.0001488	23	154602	rs150501798	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	3.034e-05	4.63e-05	0	0	0.0001	0.0006	0.0001	0.0001	0.0007	0.0001	0.0001	6.438e-05	0.0001	0.0002	6.522e-05	5.331e-05	0.0001	7.897e-05	2.423e-05	0	0	0	0	9.42e-05	0	0.0002	0.0005	0.0002	0.022	0.48642	D	0.028	0.54934	D	1.0	0.90584	D	0.954	0.69447	D	0.000003	0.62929	D	0.000000	0.995892	0.43528	D	2.745	0.80253	M	-1.02	0.76300	T	-3.0	0.62343	D	0.564	0.58798	0.312	0.87742	D	0.605	0.85983	D	10	0.57432455	0.65494	D	0.078007	0.72905	D	0.623	0.85406	0.723	0.85761	0.817202014892	0.81547	0.6166514170821364	0.61597	0.210700871631	0.23564	0.653098762035	0.60426	T	0.040494	0.25546	T	-0.0815978	0.39455	T	-0.00326742	0.70124	D	0.479720026254654	0.31887	T	0.940006	0.77317	D	0.23895407	0.46779	0.17117517	0.39281	0.23895407	0.46779	0.17117517	0.39280	-11.504	0.82351	D	.	.	0.263	0.49721	B	.	.	4.648423	0.74080	26.1	0.99905334548552627	0.97651	0.91307	0.53270	D	AEFBCI	0.590024	0.58668	D	0.544228140930551	0.69731	5.398823	0.449346536065174	0.64673	4.728195	0.999999998784292	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	5.228000	0.65139	7.329000	0.58196	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.145000	0.20128	0.0:0.0:1.0:0.0	17.023	0.86313	988	0.01987	.	.	.	.	.	.	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	0.001529	0.000000	0.001359	0.000000	0.050000	0.000000	0.003165	0.000000	0.02632	1054.33	37	chr4	8237492	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=732;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.034;SOR=0.97	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1068,0,904	18	0	1	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	59.82	50	chr4	9210768	.	C	G	59.82	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.77;DP=812;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.056;MQ=22.25;MQRankSum=-0.613;QD=0.58;ReadPosRankSum=0.728;SOR=0.301	GT:AD:DP:GQ:PL	0/1:45,8:53:51:51,0,1043	16	0	2	1
chr4	9249805	9249805	A	T	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1176T:p.R392S,USP17L18:NM_001256859:exon1:c.A1176T:p.R392S	.	847	669	4	2	0	8	0.00594354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0017472161877	.	.	0	.	0	0	0	0	0	0	3.84e-05	1	26028	rs756994613	0.0025	0.0059	0.0025	0.0026	0.0031	0.0023	0.0022	0.0026	0.0025	0.0006	0.0020	0.0015	0.0010	0.0018	0	0.0027	0.0026	0.0031	0.0004	0.0012	0.0008	0	0.0045	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0045	0.649	0.04864	T	0.722	0.06245	T	0.008	0.14655	B	0.003	0.08700	B	0.017419	0.01465	N	2.715260	1	0.08975	N	-0.71	0.01811	N	1.06	0.39781	T	0.0	0.07008	N	0.051	0.02272	-1.0375	0.18078	T	0.049	0.20908	T	9	0.045415103	0.03610	T	0.001747	0.02960	T	0.029	0.06676	0.284	0.24121	0.0401082797425	0.02173	0.008274381141416598	0.00791	.	.	0.460678100586	0.33403	T	0.002775	0.02166	T	-0.291012	0.09535	T	-0.655795	0.08553	T	0.00171555178951843	0.00017	T	0.40156	0.10241	T	0.10660611	0.25207	0.11053443	0.26652	0.10660611	0.25207	0.11053443	0.26651	-3.714	0.19525	T	.	.	0.136	0.29697	B	.;.	.;.	0.264988	0.06429	2.902	0.6230958745177313	0.06930	0.00790	0.03231	N	AEFI	0.042454	0.06590	N	-1.35723425732346	0.03050	0.1356666	-1.41418090314579	0.03110	0.1444204	1.22265754935828E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.206000	0.17174	.	.	-0.653000	0.04380	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	34.32	3	chr4	9249805	.	A	T	34.32	.	AC=2;AF=0.077;AN=26;DP=128;ExcessHet=0;FS=0;InbreedingCoeff=0.4052;MLEAC=2;MLEAF=0.077;MQ=43;QD=17.16;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	6
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.1053	5529.91	48	chr4	15003254	.	A	AGCC	5529.91	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.13;DP=768;ExcessHet=6.9875;FS=0.392;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:30,14:44:99:497,0,1177	15	0	4	0
chr4	15003723	15003723	-	GGCGGC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1050_1051insGGCGGC:p.P361_G682delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1050_1051insGGCGGC:p.G360_P361insGG,CPEB2:NM_001177383:exon1:c.1050_1051insGGCGGC:p.P361_G679delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1050_1051insGGCGGC:p.P361_G682delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1050_1051insGGCGGC:p.P361_G709delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1050_1051insGGCGGC:p.P361_G679delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0005	0	0	0.0081	.	0.0005	0	0.0003	1.94e-05	3	154602	rs528354251	0.0007	0.0006	0.0007	0.0007	0.0046	0.0006	0.0006	0.0039	0.0036	0.0010	0.0014	0.0001	0.0046	0.0005	0.0005	0.0006	0.0006	0.0007	0.0008	0.0008	0.0008	0.0008	0.0030	0.0007	0.0007	0.0019	0.0015	0.0009	0	0.0016	0	0.0030	0.0005	0.0034	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1363.78	48	chr4	15003723	.	G	GGGCGGC	1363.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.579;DP=788;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=0.578;SOR=0.771	GT:AD:DP:GQ:PL	0/1:20,20:40:99:639,0,737	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	0/1:29,46:75:99:1201,0,611	17	0	2	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;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	0.038771	0.035354	0.032609	0.070175	0.150000	0.060345	0.027439	0.018939	0.02632	1010.33	33	chr4	38827207	.	G	A	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=751;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.745;SOR=1.151	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1024,0,859	18	0	1	0
chr4	42038989	42038989	C	T	exonic	SLC30A9	.	nonsynonymous SNV	SLC30A9:NM_006345:exon8:c.C673T:p.R225C	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0492596109138	.	.	4.126e-05	9.792e-05	8.645e-05	0.0001	0	2.997e-05	0	0	3.23e-05	5	154602	rs767513447	4.863e-05	4.857e-05	4.907e-05	4.819e-05	0.0009	3.931e-05	3.609e-05	0.0003	0.0002	0.0003	0	0	2.524e-05	0	0.0009	3.151e-05	0.0001	0.0001	9.852e-05	9.844e-05	7.711e-05	0.0001	0.0002	6.004e-05	4.878e-05	0.0001	8.435e-05	0.0002	0.0011	0	0	0.0002	0	0	5.88e-05	0	0	0.013	0.53900	D	0.056	0.46632	T	0.998	0.73220	D	0.793	0.57829	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	0.48	0.55945	T	-2.03	0.46673	N	0.722	0.72388	-0.7724	0.56725	T	0.197	0.55158	T	10	0.7129765	0.73164	D	0.04926	0.63737	D	0.212	0.50341	.	.	0.62662319709	0.62357	0.7190780441153988	0.71850	1.25389219787	0.81868	0.632397472858	0.57486	T	0.073277	0.34659	T	-0.108588	0.35002	T	-0.0397219	0.67720	D	0.456967532634735	0.31054	T	0.972903	0.90223	D	0.20869042	0.43114	0.1144018	0.27615	0.20869042	0.43113	0.1144018	0.27614	-8.686	0.65654	D	.	.	0.198	0.42022	B	.	.	5.417055	0.90648	31	0.99920396841141101	0.98721	0.97516	0.75258	D	AEFBI	0.724061	0.67348	D	0.471842937840319	0.65452	4.824368	0.465866392713456	0.65742	4.862403	0.645295702827718	0.22097	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	5.37	5.37	0.76949	4.718000	0.61621	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	14.492	0.67241	513	0.74941	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	136.33	36	chr4	42038989	.	C	T	136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.99;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-1.246;SOR=0.467	GT:AD:DP:GQ:PL	0/1:21,9:30:99:150,0,534	18	0	1	0
chr4	51994584	51994584	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2438T:p.P813L	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00747068174486	8.3e-05	0.00119808	0.0007	0	8.657e-05	0	0	0.0003	0	0.004	0.0006209	96	154602	rs201852965	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	2.987e-05	0.0001	0.0016	2.52e-05	0	0.0023	7.014e-05	0.0005	0.0043	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0001	0.0023	0	0	0.0034	0.0001	0.0009	0.0046	0.542	0.06757	T	0.575	0.08654	T	0.197	0.29559	B	0.052	0.25551	B	0.968726	0.08174	N	0.983285	1	0.08975	N	1.65	0.42232	L	1.58	0.29085	T	-2.07	0.47344	N	0.053	0.02462	-0.9894	0.32753	T	0.035	0.14900	T	10	0.0047828853	0.00101	T	0.007471	0.19819	T	0.107	0.30369	.	.	0.154104182512	0.14974	0.03317373347038634	0.03265	0.0439505018323	0.04735	0.272894084454	0.06521	T	0.007813	0.07192	T	-0.640599	0.00083	T	-0.69296	0.06219	T	0.0188849794227172	0.00598	T	0.570643	0.20320	T	0.017936166	0.00316	0.037262455	0.03343	0.017936166	0.00316	0.037262455	0.03342	-3.237	0.12938	T	.	.	0.078	0.06990	B	.	.	0.655049	0.10233	6.972	0.53703547576644117	0.04992	0.03606	0.08836	N	AEFDBI	0.044990	0.07306	N	-0.9850956713548	0.08921	0.4201849	-0.996025679668643	0.09874	0.493841	0.00363253125332423	0.10212	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	1.91	0.24841	0.495000	0.22191	0.190000	0.15733	-0.105000	0.15698	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2106:0.187:0.6024:0.0	4.407	0.10843	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	4307.83	33	chr4	51994584	.	G	A	4307.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=897;ExcessHet=0.119;FS=1.906;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.932;SOR=0.583	GT:AD:DP:GQ:PL	0/1:71,75:146:99:2095,0,1783	17	0	2	0
chr4	52744727	52744727	G	C	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C794G:p.A265G,ERVMER34-1:NM_024534:exon4:c.C794G:p.A265G	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0179252434335	.	0.000399361	0.0012	0	0	0	0	0.0010	0	0.0018	0.000194	30	154602	rs553326506	0.0006	0.0006	0.0005	0.0008	0.0037	0.0006	0.0006	0.0027	0.0026	0	0.0003	0.0022	0	0	0.0037	0.0002	0.0008	0.0031	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0.0023	0	0	0	0.0002	0.0009	0.0039	.	.	.	.	.	.	0.95	0.53885	P	0.315	0.41566	B	.	.	.	.	0.999845	0.20103	N	0	0.06538	N	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.0057281256	0.00128	T	0.017925	0.39817	T	.	.	.	.	0.149567049428	0.14543	0.6156933799855586	0.61501	.	.	0.305978357792	0.11300	T	8.56E-4	0.00427	T	-0.58509	0.00179	T	-0.617521	0.11381	T	.	.	.	0.368563	0.08641	T	0.030713972	0.02783	0.07824576	0.17507	0.030713972	0.02782	0.07824576	0.17506	-2.697	0.07278	T	.	.	0.131	0.28261	B	.;.	.;.	0.583924	0.09523	6.301	0.99086121631450019	0.52100	0.06334	0.12331	N	AEFDBHCI	0.048291	0.08225	N	.	.	.	.	.	.	0.00154408687568162	0.08631	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.03	1.03	0.19161	-0.475000	0.06678	0.720000	0.21004	-0.289000	0.06313	0.001000	0.13787	0.008000	0.19753	0.160000	0.20649	0.0:0.0:1.0:0.0	5.414	0.15664	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001613	0.000000	0.000000	0.000000	0.000000	0.000000	0.014085	0.000000	0.02632	1748.33	39	chr4	52744727	.	G	C	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.995;DP=925;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.82;SOR=0.791	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1762,0,1847	18	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	202.35	101	chr4	53145477	.	T	C	202.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.909;DP=1495;ExcessHet=1.3;FS=119.723;InbreedingCoeff=-0.1484;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.495;SOR=10.505	GT:AD:DP:GQ:PL	0/1:92,21:113:19:19,0,2214	14	0	5	0
chr4	68337583	68337583	C	G	exonic	YTHDC1	.	nonsynonymous SNV	YTHDC1:NM_001031732:exon3:c.G448C:p.D150H,YTHDC1:NM_001330698:exon3:c.G448C:p.D150H,YTHDC1:NM_133370:exon3:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0301471348395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs186920853	2.062e-06	2.052e-06	0	4.145e-06	2.354e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	9.008e-07	0	2.354e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.201	0.28032	T	0.999	0.90584	D	0.99	0.88582	D	0.000042	0.53742	D	0.157526	0.999787	0.49076	D	1.355	0.33814	L	1.74	0.30133	T	-2.27	0.50666	N	0.542	0.56919	-0.9141	0.46338	T	0.149	0.47487	T	10	0.25592592	0.42990	T	0.030147	0.52519	D	0.205	0.49236	0.155	0.05858	0.196089822672	0.19227	0.39964211284795376	0.39879	0.309383900354	0.33246	0.632301688194	0.57472	T	0.169483	0.51687	T	-0.117845	0.33475	T	-0.304109	0.44288	T	0.518142129490876	0.33297	D	0.90391	0.73169	D	0.20538467	0.42678	0.27354196	0.53274	0.20538467	0.42678	0.27354196	0.53273	-3.857	0.22227	T	.	.	0.152	0.42720	B	.;.;.	.;.;.	4.129833	0.61790	24.4	0.99591226658205956	0.73631	0.97983	0.78628	D	AEFBI	0.681168	0.64461	D	0.640448904242445	0.75753	6.361817	0.663283725639	0.79604	7.117468	0.999999998877887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.348000	0.65773	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	19.539	0.95259	699	0.57969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1846.33	34	chr4	68337583	.	C	G	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=772;ExcessHet=0;FS=6.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.468;SOR=0.941	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1860,0,1544	18	0	1	0
chr4	69939189	69939189	G	A	exonic	CSN1S1	.	nonsynonymous SNV	CSN1S1:NM_001025104:exon10:c.G254A:p.S85N,CSN1S1:NM_001890:exon10:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00782290475106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.906e-07	4.104e-06	1.374e-06	0	9.069e-07	0	0	.	.	0	0	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.91255	T	0.68	0.06109	T	0.741	0.42992	P	0.556	0.49411	P	0.859207	0.07105	N	1.069020	.	.	.	0.755	0.19153	N	0.69	0.51714	T	-1.62	0.44471	N	0.164	0.31814	-0.9564	0.39843	T	0.128	0.43503	T	9	0.08151877	0.13355	T	0.007823	0.20747	T	0.055	0.15663	0.189	0.09907	0.309839678437	0.30585	0.029453254402537748	0.02894	0.0323950101074	0.03388	0.342206776142	0.16768	T	0.080347	0.36341	T	-0.26246	0.12615	T	-0.614782	0.11599	T	0.157779573322856	0.17706	T	0.387861	0.12031	T	0.05341189	0.10104	0.054221295	0.09283	0.05341189	0.10104	0.054221295	0.09283	-4.842	0.35077	T	.	.	0.179	0.41541	B	.;.;.;.;.;.	.;.;.;.;.;.	0.394543	0.07661	4.329	0.42821380526470515	0.03182	0.04408	0.09996	N	AEFI	0.066499	0.13027	N	-0.730319974080733	0.15173	0.7623805	-0.863396352604559	0.12966	0.6700159	2.06479032724992E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	1.34	0.21018	0.087000	0.14801	.	.	-0.169000	0.11342	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0835:0.2994:0.472:0.1451	4.366	0.10660	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	922.33	34	chr4	69939189	.	G	A	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.57;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.325;SOR=0.783	GT:AD:DP:GQ:PL	0/1:31,39:70:99:936,0,840	18	0	1	0
chr4	73065282	73065282	C	T	exonic	COX18	.	nonsynonymous SNV	COX18:NM_001300729:exon2:c.G575A:p.R192Q,COX18:NM_001297732:exon3:c.G566A:p.R189Q,COX18:NM_001297733:exon3:c.G113A:p.R38Q,COX18:NM_173827:exon3:c.G566A:p.R189Q	.	438	1079	5	0	0	5	0.0023116	.	.	.	3423410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.050432452673	.	.	0.0001	0	0	0	0	5.998e-05	0	0.0007	0.0001035	16	154602	rs201446949	7.458e-05	7.524e-05	5.446e-05	9.49e-05	0.0007	6.316e-05	5.874e-05	0.0006	0.0005	0	0	0.0002	0	1.872e-05	0	2.788e-05	0.0001	0.0007	5.294e-05	5.921e-05	2.584e-05	8.138e-05	0.0004	2.573e-05	1.842e-05	7.333e-05	3.045e-05	0	0	0.0001	0.0003	0	0	0	2.946e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	.	.	.	-3.73	0.70920	D	0.93	0.93487	0.287	0.87343	D	0.590	0.85325	D	9	0.8262638	0.81805	D	0.050432	0.64240	D	0.502	0.78475	.	.	0.53534322723	0.53185	0.9393966105573212	0.93920	1.07586337657	0.76961	0.455601394176	0.32709	T	0.478935	0.80855	T	0.223804	0.76136	D	0.454788	0.93691	D	0.9644455909729	0.66960	D	0.965903	0.87416	D	0.91875964	0.93128	0.8672146	0.92674	0.91875964	0.93129	0.8672146	0.92674	-8.987	0.67613	D	.	.	0.176	0.40131	B	.;.	.;.	5.608276	0.92513	32	0.99957780891220283	0.99986	0.96893	0.71515	D	AEFBI	0.763906	0.70086	D	0.906690701926216	0.92083	11.22416	0.835574565407238	0.92146	11.26128	0.999999999999993	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.57	5.57	0.84021	6.999000	0.76039	5.888000	0.50725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	19.517	0.95162	778	0.48011	.;.	.	.	.	.	.	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	948.33	35	chr4	73065282	.	C	T	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.336;SOR=0.804	GT:AD:DP:GQ:PL	0/1:44,35:79:99:962,0,1141	18	0	1	0
chr4	78407714	78407714	G	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon31:c.G4181C:p.G1394A,FRAS1:NM_025074:exon31:c.G4181C:p.G1394A	Fraser syndrome, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	294251	not_provided|FRAS1-related_disorder|Fraser_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00725144832426	0.0002	0.000399361	0.0004	0	0.0003	0	0	0.0002	0	0.0022	0.0003363	52	154602	rs376487875	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0.0003	0.0004	0	0	0.0014	0.0001	0.0003	0.0021	0.0001	0.0001	7.712e-05	0.0002	0.0017	9.148e-05	7.704e-05	0.0008	0.0006	0	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.956	0.02116	T	0.891	0.03806	T	.	.	.	.	.	.	0.000211	0.47681	D	0.193433	0.915415	0.40924	D	2.3	0.65703	M	0.98	0.42122	T	-2.38	0.52451	N	0.352	0.39356	-1.0778	0.07781	T	0.094	0.35711	T	10	0.016387403	0.00345	T	0.007251	0.19225	T	0.096	0.27654	.	.	0.623756596702	0.62070	0.34370543779316637	0.34284	.	.	0.294737279415	0.09619	T	.	.	.	-0.487109	0.00674	T	-0.477401	0.24724	T	0.0552540534065081	0.06400	T	0.887111	0.61998	D	.	.	.	.	.	.	.	.	-3.451	0.17096	T	.	.	0.122	0.25527	B	.;.	.;.	3.263703	0.44646	22.0	0.97181669393725256	0.32722	0.97129	0.72859	D	AEFBI	0.741485	0.68540	D	0.232006226449712	0.52755	3.447827	0.362243574555309	0.59248	4.101124	0.990138896119744	0.32050	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.67	4.82	0.61641	6.100000	0.71123	5.760000	0.49678	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0763:0.0:0.9237:0.0	13.133	0.58811	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2143.33	33	chr4	78407714	.	G	C	2143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.083;SOR=0.706	GT:AD:DP:GQ:PL	0/1:75,89:164:99:2157,0,1801	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	0/1:48,37:85:99:865,0,1047	17	0	2	0
chr4	87615398	87615398	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	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2637.11	51	chr4	87615398	.	T	*	2637.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.46;DP=671;ExcessHet=1.8686;FS=3.681;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=59.87;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.604;SOR=0.614	GT:AD:DP:GQ:PL	0/1:15,9:24:99:289,0,580	15	0	4	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|1:0,9:14:99:0|1:87615730_ATAG_A:1049,249,227:87615730	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|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	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|1:0,9:14:99:0|1:87615730_ATAG_A:1040,240,218:87615730	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|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	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|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	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	0/1:12,5:17:99:.:.:218,0,475:.	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	0/1:88,81:169:99:831,0,1131	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	0/1:84,72:156:99:.:.:738,0,1318:.	2	0	17	0
chr4	99651992	99651992	C	A	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2657T:p.G886V	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0103526998085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	1.368e-06	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.25	0.36512	T	-0.09	0.08340	N	0.186	0.20262	-1.0090	0.27230	T	0.054	0.22808	T	6	0.09241286	0.16271	T	0.010353	0.26785	T	0.053	0.14996	0.157	0.06070	0.465381546717	0.46164	0.1265805945798365	0.12584	.	.	.	.	.	0.011779	0.10457	T	-0.287585	0.09881	T	-0.650873	0.08894	T	0.0761748402959507	0.09491	T	0.540346	0.18307	T	0.048358068	0.08416	0.047723953	0.06937	0.048358068	0.08416	0.047723953	0.06937	-4.796	0.34545	T	.	.	0.115	0.22969	B	.	.	1.097288	0.14815	11.35	0.93752989225717009	0.23695	0.20477	0.21055	N	AEFDBI	0.253940	0.37335	N	-0.604851585710634	0.18798	0.9788265	-0.71781226788809	0.16518	0.8741418	0.975321200609403	0.29623	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.27	1.42	0.21524	-0.244000	0.08921	0.508000	0.19055	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.0:0.4677:0.3478:0.1844	4.980	0.13506	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	54	chr4	99651992	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=1006;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.6;SOR=1.026	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1187,0,1413	18	0	1	0
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	0/1:90,34:124:99:220,0,1832	5	0	12	2
chr4	112430635	112430635	C	T	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.C854T:p.T285I,ALPK1:NM_001102406:exon11:c.C1088T:p.T363I,ALPK1:NM_025144:exon11:c.C1088T:p.T363I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00825074814604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216983479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.082	0.33254	T	0.165	0.31125	T	0.028	0.19712	B	0.016	0.17743	B	0.000406	0.44736	D	0.231195	0.997583	0.22598	N	1.87	0.49600	L	4.18	0.02743	T	-1.69	0.40274	N	0.175	0.24135	-0.9619	0.38819	T	0.009	0.03054	T	10	0.110236645	0.20597	T	0.008251	0.21853	T	0.071	0.20720	0.409	0.44395	0.227260227426	0.22338	.	.	0.171870069191	0.19354	0.495460361242	0.38195	T	0.043679	0.26579	T	-0.155962	0.27384	T	-0.461805	0.26404	T	0.751267492771149	0.43355	D	0.770723	0.40088	T	0.23284815	0.46080	0.118302785	0.28558	0.23284815	0.46080	0.118302785	0.28557	-3.396	0.23293	T	0.27808078784777884	0.37293	0.218	0.44771	B	.;.;.	.;.;.	2.608825	0.33880	19.47	0.99638589718914583	0.76510	0.73876	0.36135	D	AEFBI	0.099275	0.19987	N	-0.234236036253072	0.31737	1.782618	-0.134833408348903	0.33996	1.950741	0.0221457051675887	0.13407	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	5.72	3.99	0.45527	1.726000	0.37706	1.555000	0.27319	0.599000	0.40250	0.886000	0.31111	0.892000	0.27844	0.988000	0.63387	0.2699:0.5842:0.0:0.1459	5.630	0.16786	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	964.33	34	chr4	112430635	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=715;ExcessHet=0;FS=8.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.184;SOR=1.58	GT:AD:DP:GQ:PL	0/1:39,34:73:99:978,0,1117	18	0	1	0
chr4	121329400	121329400	T	C	exonic	QRFPR	.	nonsynonymous SNV	QRFPR:NM_198179:exon6:c.A1210G:p.T404A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00719766558403	0.0007	0.000599042	0.0002	0.0016	8.637e-05	0	0	5.995e-05	0	6.058e-05	0.0001746	27	154602	rs149880616	7.251e-05	7.251e-05	6.943e-05	7.563e-05	0.0012	6.114e-05	5.7e-05	0.0009	0.0008	0.0012	0.0002	0	2.52e-05	0	0.0003	4.047e-05	0.0001	2.319e-05	0.0005	0.0005	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0001	0	0	0	0	4.41e-05	0.0009	0	0.03	0.45393	D	0.099	0.38891	T	0.001	0.07471	B	0.002	0.06944	B	0.085782	0.20622	N	0.471954	1	0.25458	N	0	0.06538	N	-0.56	0.71187	T	0.17	0.05125	N	0.112	0.09914	-1.0366	0.18357	T	0.099	0.36830	T	10	0.006972581	0.00159	T	0.007198	0.19089	T	0.096	0.27654	.	.	0.402899589544	0.39908	0.11351521546449712	0.11279	0.0216561446788	0.02158	0.275862157345	0.06922	T	0.016826	0.13832	T	-0.505147	0.00535	T	-0.528464	0.19441	T	0.0160475607113507	0.00384	T	0.49875	0.15541	T	0.050608113	0.09168	0.06677137	0.13724	0.050608113	0.09167	0.06677137	0.13724	-3.602	0.17886	T	.	.	0.063	0.01555	B	.	.	0.474914	0.08445	5.202	0.70353990999977023	0.09268	0.36390	0.25522	N	AEFI	0.127366	0.24470	N	-1.1858603650949	0.05213	0.2371325	-1.09722616492534	0.07754	0.3784582	0.0363448561365084	0.14241	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.63	2.86	0.32427	1.130000	0.31007	0.973000	0.23072	-0.203000	0.08628	0.790000	0.29595	0.001000	0.17328	0.028000	0.12845	0.0781:0.0:0.7724:0.1495	9.072	0.35656	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2313.33	34	chr4	121329400	.	T	C	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=990;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.321;SOR=0.863	GT:AD:DP:GQ:PL	0/1:106,93:199:99:2327,0,2745	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	0/1:42,21:63:31:.:.:31,0,625:.	12	0	5	2
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	0/1:80,32:112:99:.:.:497,0,2458:.	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	0/1:71,32:108:99:.:.:509,0,2413:.	1	0	18	0
chr4	145680362	145680362	-	A	exonic	C4orf51	.	frameshift insertion	C4orf51:NM_001080531:exon1:c.160dupA:p.Q56Tfs*13	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00219649	0.0015	0.0101	0.0012	0.0010	0	0.0009	0	6.059e-05	0.0004995	13	26028	rs527501209	0.0011	0.0011	0.0011	0.0011	0.0095	0.0011	0.0011	0.0086	0.0083	0.0095	0.0017	0.0010	0.0012	7.491e-05	0.0055	0.0009	0.0015	0.0002	0.0033	0.0033	0.0033	0.0034	0.0085	0.0031	0.0030	0.0077	0.0075	0.0085	0	0.0049	0.0009	0.0004	9.438e-05	0	0.0010	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005539	0.015152	0.005435	0.005848	0.000000	0.017241	0.003049	0.000000	0.02632	1271.29	35	chr4	145680362	.	G	GA	1271.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.858;DP=763;ExcessHet=0;FS=4.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.325;SOR=1.128	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1285,0,1663	18	0	1	0
chr4	158170954	158170954	C	T	exonic	GASK1B	.	nonsynonymous SNV	GASK1B:NM_001031700:exon2:c.G422A:p.G141E,GASK1B:NM_001128424:exon2:c.G422A:p.G141E,GASK1B:NM_016613:exon2:c.G422A:p.G141E	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0072	0.00379393	0.0069	0.0015	0.0041	0	0.0054	0.0105	0.0088	0.0021	0.0068175	1054	154602	rs147697286	0.0084	0.0084	0.0085	0.0084	0.0099	0.0083	0.0083	0.0097	0.0097	0.0013	0.0035	0.0031	0	0.0077	0.0064	0.0099	0.0077	0.0020	0.0065	0.0065	0.0070	0.0060	0.0113	0.0062	0.0060	0.0106	0.0104	0.0016	0.0033	0.0033	0.0052	0	0.0053	0.0034	0.0113	0.0076	0.0015	0.063	0.37118	T	0.842	0.22223	T	.	.	.	.	.	.	0.914439	0.07436	N	1.040310	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.34	0.33401	N	0.168	0.25377	-0.9831	0.34281	T	0.060	0.24981	T	10	0.0036983788	0.00068	T	.	.	.	0.079	0.23065	.	.	0.245101548738	0.24120	0.415537053956538	0.41469	0.726907967018	0.62539	0.404081493616	0.25637	T	.	.	.	-0.621282	0.00108	T	-0.653529	0.08709	T	0.0180847529048615	0.00531	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.15698	B	.;.;.;.	.;.;.;.	0.723194	0.10925	7.592	0.82697138627709676	0.14327	0.40026	0.26345	N	AEFDBCI	0.314170	0.41911	N	-0.727053110721069	0.15264	0.7677369	-0.834160244315512	0.13669	0.7103327	0.999999903827991	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	4.96	-0.115	0.12899	0.836000	0.27198	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.098000	0.22634	0.011000	0.09372	0.0:0.36:0.5634:0.0766	10.999	0.46810	640	0.64132	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.008152	0.002924	0.050000	0.000000	0.006098	0.003788	0.02632	2650.33	40	chr4	158170954	.	C	T	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.92;DP=820;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.092;SOR=0.854	GT:AD:DP:GQ:PL	0/1:77,101:178:99:2664,0,2140	18	0	1	0
chr4	163473528	163473528	G	T	exonic	TKTL2	.	nonsynonymous SNV	TKTL2:NM_032136:exon1:c.C207A:p.N69K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0115043885397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.057	0.46406	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.99868	0.45275	D	2.55	0.74443	M	1.64	0.27822	T	-3.3	0.65858	D	0.783	0.77978	-0.8920	0.48758	T	0.164	0.50078	T	10	0.7845738	0.78137	D	0.011504	0.29187	T	0.285	0.60338	0.619	0.75347	0.258779203287	0.25495	0.3822139047622248	0.38136	0.599303749969	0.55058	0.397569030523	0.24730	T	0.279863	0.65255	T	-0.187651	0.22603	T	-0.507324	0.21590	T	0.978939294815063	0.72574	D	0.984102	0.94582	D	0.3519175	0.57216	0.2882151	0.54836	0.3519175	0.57216	0.2882151	0.54835	-7.674	0.58827	D	.	.	0.619	0.69669	P	.	.	1.969460	0.25016	16.61	0.9792506980310135	0.36914	0.83513	0.42625	D	AEFGBCI	0.271092	0.38702	N	-0.260783451527471	0.30674	1.712636	-0.447116623371492	0.23630	1.289692	0.997226399593401	0.35393	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.61	-0.151	0.12755	0.079000	0.14636	-1.407000	0.05512	-0.962000	0.01975	0.947000	0.32937	0.000000	0.08366	0.171000	0.21011	0.3983:0.0:0.6017:0.0	8.418	0.31842	987	0.02648	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	0	0	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr4	163473528	.	G	T	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=796;ExcessHet=0;FS=66.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.27;SOR=6.272	GT:AD:DP:GQ:PL	0/1:134,22:156:88:88,0,3419	18	0	1	0
chr4	164197069	164197069	C	T	exonic	ANP32C	.	nonsynonymous SNV	ANP32C:NM_012403:exon1:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000199681	0.0015	0	8.747e-05	0	0.0040	0.0023	0	0.0002	0.0013454	208	154602	rs115560650	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0012	9.001e-05	0.0001	0.0002	0	0.0052	0.0009	0.0013	0.0007	8.125e-05	0.0016	0.0016	0.0016	0.0016	0.0028	0.0015	0.0014	0.0025	0.0023	9.63e-05	0	0.0003	0	0	0.0043	0	0.0028	0.0014	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	3403.33	47	chr4	164197069	.	C	T	3403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=1392;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.055;SOR=0.878	GT:AD:DP:GQ:PL	0/1:167,130:297:99:3417,0,4292	18	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	247.47	34	chr4	168898668	.	T	C	247.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.592;DP=1085;ExcessHet=0.7564;FS=86.384;InbreedingCoeff=-0.1185;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.627;SOR=8.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,16:82:3:0|1:168898668_T_C:3,0,2082:168898668	15	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,25:82:99:0|1:168898668_T_C:252,0,1040:168898668	13	0	6	0
chr4	169136469	169136469	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C917G:p.T306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.024056494603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.329e-05	0.0025	2.715e-05	1.947e-05	2.583e-05	1.67e-05	1.455e-05	1.726e-05	1.459e-05	0	0	3.975e-05	2.583e-05	1.896e-05	0	2.515e-05	5.377e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.275	0.22016	T	0.199	0.29618	B	0.156	0.34472	B	0.000000	0.84330	D	0.043735	1	0.81001	D	2.17	0.60663	M	1.8	0.25344	T	-3.34	0.66325	D	0.582	0.60325	-1.0805	0.07252	T	0.089	0.34325	T	10	0.39489537	0.55155	T	0.024056	0.47042	T	0.176	0.44373	0.295	0.25881	0.510642626009	0.50703	0.443194138562992	0.44237	0.545718134249	0.51591	0.610346972942	0.54365	T	0.30341	0.67576	T	-0.0253806	0.48083	T	-0.274234	0.47390	T	0.896669924259186	0.54843	D	0.871313	0.57716	D	0.2636484	0.49430	0.2724437	0.53155	0.2636484	0.49430	0.2724437	0.53154	-8.722	0.65890	D	.	.	0.324	0.54782	B	.	.	3.552018	0.49937	22.9	0.9932646666211864	0.59584	0.99677	0.98583	D	AEFBHI	0.937630	0.93567	D	0.288675535955983	0.55574	3.721458	0.405293274781445	0.61895	4.396089	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:1.0:0.0	19.722	0.96142	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	.	.	.	.	.	.	.	.	0.02632	678.37	34	chr4	169136469	.	G	C	678.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.226;DP=1348;ExcessHet=0;FS=170.116;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=3.86;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,28:179:99:0|1:169136465_G_A:692,0,6198:169136465	18	0	1	0
chr4	169136470	169136470	T	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.A916G:p.T306A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0215795392975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.45e-06	0.0010	4.123e-06	2.772e-06	2.526e-05	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	2.526e-05	0	0	3.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.009	0.66756	D	0.864	0.47514	P	0.311	0.41430	B	0.000000	0.84330	D	0.043735	1	0.81001	D	2.975	0.85398	M	1.82	0.25018	T	-4.32	0.76655	D	0.705	0.70878	-1.0005	0.29774	T	0.084	0.32957	T	10	0.6542848	0.69782	D	0.02158	0.44367	T	0.213	0.50496	0.328	0.31196	0.663428526802	0.66060	0.6104862764342925	0.60980	0.516753251321	0.49562	0.60030901432	0.52948	T	0.337905	0.70724	T	0.0384574	0.56844	T	-0.182535	0.56289	T	0.990292012691498	0.80512	D	0.941406	0.78138	D	0.32921758	0.55407	0.2909237	0.55117	0.32921758	0.55407	0.2909237	0.55116	-9.276	0.69456	D	.	.	0.542	0.66454	A	.	.	4.092503	0.60962	24.3	0.9928486333502301	0.58043	0.99367	0.95101	D	AEFBHI	0.910213	0.86784	D	0.500506967661061	0.67121	5.039465	0.530955167200043	0.70082	5.453394	0.999999999997725	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.653000	0.82698	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:0.0:1.0	15.869	0.78872	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	.	.	.	.	.	.	.	.	0.02778	681.71	34	chr4	169136470	.	T	C	681.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.176;DP=1348;ExcessHet=0;FS=118.564;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=3.85;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,28:178:99:0|1:169136465_G_A:695,0,6159:169136465	17	0	1	1
chr4	169136471	169136471	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C915G:p.F305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0161862551852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.13	0.34716	T	0.009	0.15093	B	0.012	0.16012	B	0.000000	0.84330	D	0.042141	0.999998	0.58761	D	2.585	0.75554	M	3.66	0.04228	T	-4.77	0.80425	D	0.767	0.76481	-1.0085	0.27385	T	0.015	0.06234	T	10	0.47006297	0.59807	T	0.016186	0.37323	T	0.168	0.42943	0.443	0.49975	0.393159880135	0.38930	0.3289547043960695	0.32808	0.39854003131	0.40905	0.847556710243	0.89244	D	0.281782	0.65451	T	0.0237529	0.54886	T	-0.203657	0.54300	T	0.988253176212311	0.78611	D	0.961204	0.85427	D	0.428689	0.62666	0.2758005	0.53520	0.428689	0.62666	0.2758005	0.53519	-5.812	0.44679	T	.	.	0.997	0.96796	P	.	.	3.513087	0.49210	22.7	0.99301475946825513	0.58650	0.96540	0.69650	D	AEFBHI	0.551111	0.56332	D	-0.153070924339285	0.35104	2.012141	-0.0190504996461991	0.38856	2.295217	0.999983526022094	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	2.018000	0.40610	5.851000	0.50338	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.3216:0.0:0.6784:0.0	6.667	0.22239	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	.	.	.	.	.	.	.	.	0.02632	687.33	34	chr4	169136471	.	G	C	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.114;DP=1340;ExcessHet=0;FS=117.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.75;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	18	0	1	0
chr4	169136475	169136475	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C911G:p.S304C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0447092968979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.829e-05	0.0021	1.532e-05	2.124e-05	2.152e-05	1.237e-05	1.04e-05	1.383e-05	1.173e-05	0	0	0	0	0	0	2.152e-05	3.607e-05	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	3.04	0.08810	T	-4.16	0.75375	D	0.765	0.76296	-1.0993	0.04177	T	0.072	0.29323	T	10	0.83451885	0.82609	D	0.044709	0.61621	D	0.508	0.78848	0.384	0.40298	0.529763130185	0.52623	0.7277342134162761	0.72717	1.07337600161	0.76894	0.688261985779	0.65456	T	0.512749	0.82806	D	0.145562	0.68851	D	-0.0286874	0.68455	D	0.996556997299194	0.89586	D	0.962554	0.86020	D	0.55400306	0.70178	0.40473717	0.64893	0.55400306	0.70179	0.40473717	0.64893	-17.092	0.98987	D	.	.	0.844	0.79463	P	.	.	5.404296	0.90485	31	0.99215734258635513	0.55747	0.99585	0.97709	D	AEFBHI	0.924117	0.90164	D	0.784810032314389	0.85147	8.490072	0.736671654290725	0.85159	8.498	0.999999999728371	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.64	0.57399	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0706:0.0:0.9294:0.0	14.551	0.67654	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	.	.	.	.	.	.	.	.	0.02632	693.33	34	chr4	169136475	.	G	C	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.982;DP=1691;ExcessHet=0;FS=166.007;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=3.51;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:169136465_G_A:707,0,6032:169136465	18	0	1	0
chr4	169136477	169136477	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C909G:p.H303Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0243061443193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.156e-06	0.0010	2.76e-06	5.564e-06	4.565e-06	1.5e-06	9.8e-07	1.34e-06	9.7e-07	0	0	0	0	0	0	4.565e-06	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.157	0.31730	T	0.913	0.50474	P	0.459	0.46380	P	0.000000	0.84330	D	0.043724	0.999998	0.58761	D	2.93	0.84523	M	3.14	0.07920	T	-6.56	0.91868	D	0.613	0.62950	-1.0989	0.04227	T	0.033	0.14334	T	10	0.47221836	0.59931	T	0.024306	0.47297	T	0.167	0.42761	0.288	0.24761	0.446211707333	0.44242	0.5734345921169697	0.57272	0.716424582878	0.61991	0.761596083641	0.76166	T	0.378474	0.74144	T	-0.00434169	0.51053	T	-0.244013	0.50405	T	0.979168593883514	0.72692	D	0.880612	0.59878	D	0.6568651	0.75730	0.590153	0.76221	0.6568651	0.75732	0.590153	0.76222	-12.539	0.87377	D	.	.	0.988	0.92872	P	.	.	4.013672	0.59233	24.1	0.98669276283982044	0.44442	0.98198	0.80457	D	AEFBHI	0.680173	0.64395	D	0.0233294462682727	0.42917	2.595014	0.0416901794853524	0.41672	2.507522	0.999985205507636	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	3.77	0.42499	4.295000	0.58846	5.721000	0.49471	-0.845000	0.02763	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.134:0.0:0.866:0.0	12.635	0.56039	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	.	.	.	.	.	.	.	.	0.02941	688.15	34	chr4	169136477	.	G	C	688.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.422;DP=1721;ExcessHet=0;FS=168.761;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.34;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	16	0	1	2
chr4	169136478	169136478	T	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.A908G:p.H303R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0196691312066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.773e-06	0.0009	0	5.567e-06	3.653e-06	6.5e-07	4.4e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.653e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.144	0.33109	T	0.021	0.18474	B	0.019	0.18783	B	0.000000	0.84330	D	0.043724	1	0.81001	D	2.585	0.75554	M	3.14	0.07920	T	-6.5	0.91609	D	0.67	0.67822	-1.0917	0.05254	T	0.029	0.12365	T	10	0.42911905	0.57372	T	0.019669	0.42091	T	0.198	0.48105	0.331	0.31681	0.464442853059	0.46069	0.6220558457862273	0.62138	0.416131165236	0.42257	0.777079999447	0.78489	T	0.439263	0.78461	T	0.0361664	0.56541	T	-0.185826	0.55979	T	0.98208075761795	0.74284	D	0.955304	0.82980	D	0.7182708	0.79065	0.6675862	0.80504	0.7182708	0.79067	0.6675862	0.80505	-11.659	0.83150	D	.	.	0.979	0.91023	P	.	.	4.110290	0.61357	24.3	0.99210037610494439	0.55563	0.99367	0.95101	D	AEFBHI	0.923699	0.90058	D	0.113300059113423	0.47084	2.939013	0.278643913478168	0.54296	3.594861	0.999999999997725	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.653000	0.82698	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.869	0.78872	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	.	.	.	.	.	.	.	.	0.02778	687.72	34	chr4	169136478	.	T	C	687.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.877;DP=1803;ExcessHet=0;FS=119.069;InbreedingCoeff=-0.0415;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.32;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	17	0	1	1
chr4	169136479	169136479	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C907G:p.H303D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0200837280965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.768e-06	0.0012	1.379e-06	4.168e-06	2.524e-05	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	2.524e-05	0	0	2.734e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.014	0.62352	D	0.955	0.54515	P	0.616	0.51268	P	0.000000	0.84330	D	0.043724	1	0.81001	D	2.93	0.84523	M	3.14	0.07920	T	-7.38	0.94702	D	0.72	0.72209	-1.1866	0.00281	T	0.050	0.21143	T	10	0.6996175	0.72360	D	0.020084	0.42598	T	0.395	0.71004	0.308	0.27967	0.53586618445	0.53237	0.6771464697966925	0.67653	0.958108681369	0.72899	0.772674202919	0.77825	T	0.518568	0.83121	D	0.204993	0.74359	D	0.0566817	0.74024	D	0.993831634521484	0.84805	D	0.949755	0.80719	D	0.77504814	0.82351	0.77999353	0.87029	0.77504814	0.82353	0.77999353	0.87030	-18.062	0.99549	D	.	.	0.996	0.96165	P	.	.	5.397624	0.90402	31	0.99451182820068418	0.65274	0.99677	0.98583	D	AEFBHI	0.938122	0.93686	D	0.745492957135097	0.82611	7.80552	0.766892329695355	0.87413	9.213568	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.722	0.96142	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	.	.	.	.	.	.	.	.	0.02632	693.33	34	chr4	169136479	.	G	C	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.304;DP=1179;ExcessHet=0;FS=167.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=3.15;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:169136465_G_A:707,0,6032:169136465	18	0	1	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S	.	441	1040	41	0	0	41	0.0193305	.	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.005051	0.013587	0.040936	0.000000	0.025862	0.006098	0.022727	0.05263	1489.83	34	chr4	174259787	.	T	C	1489.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=709;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.635;SOR=0.763	GT:AD:DP:GQ:PL	0/1:31,23:54:99:563,0,786	17	0	2	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	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	0/1:62,6:72:99:.:.:176,0,2277:.	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|1:62,15:77:99:0|1:176711631_G_C:233,0,2272:176711631	4	0	14	1
chr4	183319606	183319606	G	A	exonic	CLDN22	.	stopgain	CLDN22:NM_001111319:exon1:c.C613T:p.Q205X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0009	0	0.0003	0	0	0	0	0.0062	0.0007697	119	154602	rs544421553	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	5.977e-05	0.0001	0	0	0	0.0002	5.396e-06	0.0003	0.0053	0.0002	0.0002	8.994e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0	0	0	0	0	0	0	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	0.187255	0.16942	N	0.614555	0.850485	0.58761	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0460926	0.57838	T	0.295075	0.87967	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.461663	0.69446	25.4	0.97885292807522206	0.36635	0.34902	0.25176	N	AEFBI	0.065178	0.12699	N	0.272957060427218	0.54783	3.643044	-0.0385988883743633	0.37987	2.231782	0.970504803882819	0.29212	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.508809	0.08732	0	.	.	6.07	4.3	0.50540	1.371000	0.33855	0.357000	0.17536	-0.717000	0.03845	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.0:0.1196:0.7558:0.1246	13.582	0.61374	964	0.07719	.	.	.	.	.	.	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	2789.33	34	chr4	183319606	.	G	A	2789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=859;ExcessHet=0;FS=3.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.117;SOR=0.954	GT:AD:DP:GQ:PL	0/1:132,109:241:99:2803,0,3363	18	0	1	0
chr4	190065287	190065287	C	T	exonic	DUX4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.233e-05	6.043e-05	5.058e-06	5.524e-05	0.0002	1.875e-05	1.566e-05	0.0001	7.629e-05	0	0	0	0	0	0	8.024e-06	8.218e-05	0.0002	9.739e-06	7.831e-05	0	2.009e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	73.63	.	chr4	190065287	.	C	T	73.63	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.834;DP=26;ExcessHet=0;FS=3.31;InbreedingCoeff=-0.1592;MLEAC=2;MLEAF=0.083;MQ=40.21;MQRankSum=-1.834;QD=12.27;ReadPosRankSum=1.83;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:47:81,0,47	11	0	1	7
chr5	433951	433951	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1211T:p.A404V,AHRR:NM_001377239:exon11:c.C1211T:p.A404V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.025828436759	0.0003	0.000599042	0.0004	0	8.825e-05	0	0.0003	0.0006	0	0.0001	0.0003816	59	154602	rs201569850	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	9.442e-05	0.0002	0	0	0.0005	0.0002	0.0003	0.0002	2.656e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	0.0003	0	0	9.418e-05	0	0.0005	0.0005	0	0.27	0.34444	T	0.881	0.10354	T	0.004	0.44271	B	0.003	0.36167	B	0.939548	0.08364	N	0.973329	1	0.08975	N	0.895	0.22405	L	2.1	0.53943	T	-0.25	0.18670	N	0.114	0.10198	-1.0435	0.16265	T	0.116	0.40942	T	10	0.0179528	0.00387	T	0.025828	0.48779	D	0.030	0.07022	.	.	0.616412033367	0.61331	0.13610504137465992	0.13534	0.0974575988704	0.11007	0.27148348093	0.06336	T	0.079772	0.36208	T	-0.423218	0.01632	T	-0.515698	0.20733	T	0.0192210393528041	0.00628	T	0.486851	0.15971	T	0.025071863	0.01405	0.038049296	0.03591	0.025071863	0.01404	0.038049296	0.03590	-4.272	0.28107	T	.	.	0.081	0.32030	B	.;.;.;.;.	.;.;.;.;.	0.674267	0.10428	7.148	0.98948624906234073	0.49093	0.22268	0.21689	N	AEFDGBCI	0.073790	0.14771	N	-0.699477162552217	0.16036	0.8135527	-0.744593985971622	0.15854	0.835934	0.999999841459146	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.53	3.66	0.41111	0.742000	0.25884	-0.296000	0.10153	-0.816000	0.03012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8917:0.0:0.1083	8.628	0.33063	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	774.33	37	chr5	433951	.	C	T	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.58;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,30:72:99:788,0,1134	18	0	1	0
chr5	13865765	13865765	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon27:c.A4258G:p.N1420D	Ciliary dyskinesia, primary, 3, with or without situs inversus	3	1510	8	1	0	10	0.00330033	.	.	YES	251750	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0432556220655	7.7e-05	0.00139776	0.0009	0.0002	0.0003	0	0	0.0003	0.0022	0.0047	0.0007438	115	154602	rs201841311	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	5.998e-05	0.0002	3.833e-05	2.523e-05	0	0.0023	0.0002	0.0006	0.0053	0.0003	0.0003	0.0003	0.0004	0.0060	0.0003	0.0002	0.0043	0.0037	0	0	0	0	0	0	0.0102	0.0002	0.0005	0.0060	0.379	0.11227	T	.	.	.	0.005	0.12996	B	0.02	0.19048	B	0.000000	0.84330	D	0.045740	1	0.81001	D	1.455	0.36767	L	0.19	0.60236	T	-3.29	0.65742	D	0.252	0.28498	-0.9249	0.44872	T	0.155	0.48653	T	10	0.0070150793	0.00160	T	0.043256	0.60889	D	0.125	0.34456	.	.	0.663333248432	0.66050	0.5991009772945112	0.59841	0.196928005881	0.22067	0.535254716873	0.43775	T	0.491452	0.81582	T	-0.430938	0.01463	T	-0.391523	0.34372	T	0.0242356835716743	0.01174	T	0.905309	0.66640	D	0.486553	0.66296	0.442763	0.67516	0.486553	0.66297	0.442763	0.67516	-5.55	0.42333	T	0.2316409542714556	0.31348	0.163	0.35931	B	.	.	2.868385	0.37918	20.6	0.99324492742501602	0.59507	0.96846	0.71256	D	AEFI	0.704140	0.65995	D	-0.0866129141540228	0.37978	2.217524	0.124592617311679	0.45810	2.837629	0.999999966683134	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	3.535000	0.53331	6.166000	0.54416	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.328	0.82823	756	0.51065	Dynein heavy chain, domain-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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1000.33	33	chr5	13865765	.	T	C	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.795;DP=798;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.645;SOR=1.014	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1014,0,1115	18	0	1	0
chr5	37175927	37175927	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon31:c.C5960T:p.T1987M,CPLANE1:NM_023073:exon31:c.C5960T:p.T1987M	.	.	.	.	.	.	.	.	.	.	.	1043582	Joubert_syndrome_17|Orofaciodigital_syndrome_type_6|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0110358946817	0.0002	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs141126113	1.712e-05	1.779e-05	1.635e-05	1.789e-05	0.0002	1.175e-05	9.93e-06	0.0001	8.682e-05	0.0002	4.479e-05	0	0	0	0	9.901e-06	6.63e-05	0	1.972e-05	1.971e-05	2.571e-05	1.346e-05	0.0001	5.24e-06	2.45e-06	2.264e-05	9.08e-06	2.415e-05	0	0.0001	0	0	0	0	0	0	0	0.316	0.14303	T	0.068	0.44501	T	.	.	.	.	.	.	0.004665	0.33505	N	0.168099	0.999339	0.21346	N	.	.	.	1.87	0.24085	T	-1.56	0.37759	N	0.154	0.16447	-1.0811	0.07137	T	0.050	0.21339	T	10	0.07984108	0.12889	T	0.011036	0.28250	T	0.059	0.16972	.	.	0.240491677333	0.23641	0.14765720413903313	0.14687	0.163182657667	0.18416	.	.	.	0.010052	0.10959	T	-0.377787	0.03217	T	-0.604594	0.12427	T	0.22811621427536	0.21862	T	0.759024	0.38317	T	0.035602547	0.04221	0.040920414	0.04533	0.035602547	0.04220	0.040920414	0.04532	-4.878	0.35487	T	0.3940702617059142	0.48684	0.096	0.21125	B	.;.;.	.;.;.	2.234040	0.28519	17.82	0.98432112343510447	0.41409	0.30746	0.24161	N	AEFGBI	0.064762	0.12593	N	-0.160980307622621	0.34770	1.988638	-0.235648672942161	0.30268	1.702829	0.303184122753881	0.19210	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.77	1.63	0.22882	0.438000	0.21277	1.350000	0.25801	0.676000	0.76740	0.253000	0.24879	0.809000	0.27020	0.647000	0.32611	0.0801:0.1334:0.4069:0.3796	3.680	0.07839	138	0.94518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	525.33	20	chr5	37175927	.	G	A	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=581;ExcessHet=0;FS=5.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.381;SOR=0.193	GT:AD:DP:GQ:PL	0/1:17,20:37:99:539,0,404	18	0	1	0
chr5	38409052	38409052	G	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon5:c.G595A:p.G199R,EGFLAM:NM_001205301:exon10:c.G1297A:p.G433R,EGFLAM:NM_152403:exon10:c.G1297A:p.G433R	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.251911806775	7.7e-05	.	0.0010	0	0.0003	0	0	0.0003	0	0.0037	0.0004075	63	154602	rs201077948	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	3.016e-05	0.0004	0.0012	2.561e-05	0	0.0023	7.079e-05	0.0003	0.0026	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0014	0	0	0.0068	0.0001	0	0.0012	0.028	0.46129	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049513	1	0.81001	D	2.04	0.55661	M	-0.87	0.74583	T	-1.76	0.48020	N	0.682	0.75283	-0.1301	0.79399	T	0.577	0.84729	D	10	0.119107634	0.22532	T	0.251912	0.89151	D	0.520	0.79583	0.696	0.83313	0.873324186048	0.87209	0.796047344045307	0.79557	0.526958073932	0.50312	0.664157032967	0.62004	T	0.226027	0.59093	T	-0.0382169	0.46213	T	0.16709	0.81235	D	0.0709222806418665	0.08780	T	0.962804	0.86152	D	0.24193795	0.47115	0.2710773	0.53005	0.24193795	0.47115	0.2710773	0.53004	-8.206	0.62466	D	.	.	0.449	0.71071	A	.;.;.	.;.;.	5.208236	0.87384	29.2	0.99923519393744442	0.98917	0.99113	0.91417	D	AEFGBI	0.955192	0.97285	D	0.56538432362743	0.71023	5.588407	0.497631844228223	0.67833	5.137228	0.999999999999954	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	8.03E-4	0.00125	3	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	9.271000	0.94922	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:1.0:0.0	20.103	0.97879	845	0.36510	Laminin G domain|Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1008.33	35	chr5	38409052	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=712;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.515;SOR=0.564	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1022,0,912	18	0	1	0
chr5	38484788	38484788	G	A	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon18:c.C2578T:p.R860W,LIFR:NM_001364297:exon18:c.C2578T:p.R860W,LIFR:NM_001364298:exon18:c.C2545T:p.R849W,LIFR:NM_002310:exon18:c.C2578T:p.R860W	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	2	1507	13	0	0	13	0.00429468	.	.	.	299778	Connective_tissue_disorder|Stuve-Wiedemann_syndrome|LIFR-related_disorder|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.219	.	0.0005	0.00319489	0.0041	0.0003	0.0002	0	0.0012	0.0009	0.0011	0.0263	0.0035899	555	154602	rs146205670	0.0020	0.0020	0.0013	0.0028	0.0249	0.0020	0.0019	0.0240	0.0236	0.0001	0.0002	0	0	0.0009	0.0010	0.0006	0.0015	0.0249	0.0012	0.0012	0.0010	0.0015	0.0199	0.0011	0.0010	0.0167	0.0155	9.63e-05	0.0362	6.541e-05	0	0.0002	0.0003	0.0034	0.0007	0.0009	0.0199	0.052	0.39097	T	0.001	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.001002	0.40652	N	0.252707	0.972982	0.38989	D	1.28	0.32218	L	0.4	0.57261	T	-0.52	0.16187	N	0.698	0.70439	-0.6244	0.63806	T	0.257	0.62766	T	10	0.010631561	0.00236	T	.	.	.	0.219	0.51417	.	.	0.703787998623	0.70121	0.6465233660164966	0.64587	0.476854262353	0.46806	0.685845673084	0.65107	T	0.512812	0.82810	D	-0.216247	0.18509	T	-0.0651465	0.65970	T	0.0297199821076756	0.01947	T	0.940606	0.77652	D	0.115207836	0.27188	0.09398647	0.22225	0.1006522	0.23769	0.1084894	0.26132	-7.61	0.58381	D	.	.	0.166	0.37388	B	.;.	.;.	5.513726	0.91708	32	0.99864331801271655	0.94276	0.88079	0.47852	D	AEFBI	0.564678	0.57137	D	0.447110674081447	0.64040	4.649756	0.431008181797032	0.63505	4.585711	0.998592136803313	0.37268	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.78	3.86	0.43689	3.010000	0.49246	5.037000	0.46877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6311:0.3688	14.616	0.68145	465	0.78421	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1579.33	36	chr5	38484788	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.72;SOR=0.683	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1593,0,1057	18	0	1	0
chr5	53083349	53083349	A	T	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon27:c.A3154T:p.T1052S	.	11	1495	16	0	0	16	0.00532269	.	.	.	304110	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.038	0.0100717527135	0.0018	0.00119808	0.0017	0.0003	0.0011	0	0.0002	0.0015	0.0011	0.0052	0.0016559	256	154602	rs150997093	0.0015	0.0015	0.0013	0.0017	0.0101	0.0014	0.0014	0.0080	0.0073	0.0002	0.0010	0.0053	0	0.0002	0.0101	0.0012	0.0020	0.0049	0.0013	0.0013	0.0012	0.0014	0.0035	0.0011	0.0011	0.0022	0.0018	0.0004	0	0.0012	0.0046	0	0.0002	0.0034	0.0017	0.0038	0.0035	0.308	0.14111	T	0.711	0.05506	T	.	.	.	.	.	.	0.000528	0.43581	D	0.222198	0.835462	0.28703	N	.	.	.	0.86	0.46777	T	0.12	0.05604	N	0.117	0.10626	-1.0329	0.19522	T	0.067	0.27606	T	10	0.007706195	0.00175	T	0.010072	0.26169	T	0.038	0.09825	0.435	0.48664	0.789854212453	0.78790	0.43204601794977227	0.43121	0.154822667807	0.17480	0.395790934563	0.24483	T	.	.	.	-0.551257	0.00287	T	-0.563665	0.16034	T	0.0125553680293446	0.00208	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	1.568344	0.20082	14.58	0.95467588244027402	0.27011	0.93699	0.58939	D	AEFDBI	0.237835	0.36005	N	-0.363103645771931	0.26794	1.465058	-0.185448689973304	0.32070	1.820975	0.999992556846656	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	4.79	0.60909	3.155000	0.50398	3.448000	0.38427	0.756000	0.94297	0.999000	0.42656	0.967000	0.29559	0.530000	0.29707	0.9259:0.0:0.0741:0.0	10.852	0.45983	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.005102	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	764.33	33	chr5	53083349	.	A	T	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=721;ExcessHet=0;FS=2.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.083;SOR=0.451	GT:AD:DP:GQ:PL	0/1:77,36:113:99:778,0,2094	18	0	1	0
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.05263	2804.83	33	chr5	69414057	.	G	A	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=802;ExcessHet=0.119;FS=1.068;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.724;SOR=0.598	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1141,0,1392	17	0	2	0
chr5	73123575	73123575	G	A	exonic	TMEM171	.	nonsynonymous SNV	TMEM171:NM_001161342:exon2:c.G202A:p.V68M,TMEM171:NM_173490:exon2:c.G202A:p.V68M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00971053426482	0.0007	.	0.0014	0.0002	0.0002	0.0007	0.0008	0.0024	0.0011	0	0.0013001	201	154602	rs149174030	0.0011	0.0011	0.0011	0.0012	0.0021	0.0011	0.0011	0.0012	0.0012	0.0001	0.0002	0.0042	0.0008	0.0007	0.0021	0.0012	0.0011	0.0001	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	4.81e-05	0	0.0003	0.0020	0.0002	0.0008	0.0034	0.0019	0.0005	0	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.923	0.65830	D	0.128829	0.18716	N	0.504521	0.98608	0.24651	N	1.465	0.36909	L	1.55	0.29866	T	-2.1	0.47852	N	0.128	0.12198	-0.9619	0.38819	T	0.134	0.44856	T	10	0.014216334	0.00299	T	0.009711	0.25359	T	0.188	0.46444	.	.	0.290222751274	0.28632	0.5601721219563913	0.55944	0.144840656821	0.16365	0.350803762674	0.18040	T	0.024611	0.18561	T	-0.502252	0.00555	T	-0.498217	0.22533	T	0.0371990003862295	0.03191	T	0.717028	0.32946	T	0.1161385	0.27396	0.11873762	0.28662	0.1161385	0.27396	0.11873762	0.28661	-2.45	0.05448	T	.	.	0.164	0.38190	B	.;.	.;.	3.536494	0.49643	22.8	0.99777919390363856	0.86519	0.78011	0.38427	D	AEFDGBI	0.419214	0.48653	N	0.159336983761572	0.49254	3.127923	0.0588350940428705	0.42500	2.571729	0.999999999993881	0.74766	0.538715	0.22204	0	0.59043	0.45803	0	0.298653	0.05632	1	0.563494	0.21769	0	.	.	5.2	5.2	0.71720	4.045000	0.57081	4.369000	0.43143	-0.212000	0.08331	0.684000	0.28476	0.934000	0.28616	0.068000	0.16518	0.0:0.0:1.0:0.0	18.732	0.91703	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2755.33	34	chr5	73123575	.	G	A	2755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=1051;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-2.012;SOR=0.571	GT:AD:DP:GQ:PL	0/1:86,101:187:99:2769,0,2182	18	0	1	0
chr5	78509910	78509910	T	C	exonic	LHFPL2	.	nonsynonymous SNV	LHFPL2:NM_005779:exon4:c.A304G:p.I102V	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	.	7.7e-05	0.00738818	0.0025	0.0002	0	0.0296	0.0008	0.0003	0.0011	0.0010	0.0023997	371	154602	rs2303654	0.0007	0.0007	0.0008	0.0007	0.0179	0.0007	0.0007	0.0168	0.0163	0.0002	0.0001	0	0.0179	0.0003	0.0003	5.036e-05	0.0028	0.0014	0.0013	0.0013	0.0010	0.0015	0.0314	0.0011	0.0011	0.0274	0.0259	0.0002	0	0.0001	0	0.0314	0	0	0.0001	0.0014	0.0021	0.338	0.12796	T	0.54	0.09760	T	0.689	0.41609	P	0.265	0.39681	B	0.000006	0.62929	D	0.125933	0.999989	0.54805	D	1.715	0.44382	L	-0.58	0.71425	T	-0.44	0.14588	N	0.58	0.60156	-0.7883	0.55828	T	0.120	0.41886	T	10	0.011547178	0.00252	T	.	.	.	0.284	0.60219	.	.	0.372993862945	0.36913	0.6839381374284791	0.68332	0.501433170263	0.48525	0.432927846909	0.29608	T	0.211738	0.57259	T	-0.36717	0.03740	T	-0.271623	0.47654	T	0.037961902614895	0.03325	T	0.816718	0.47282	T	0.10682148	0.25259	0.15999761	0.37287	0.10682148	0.25258	0.15999761	0.37286	-3.177	0.12202	T	.	.	0.089	0.12276	B	.;.	.;.	2.684960	0.35034	19.79	0.9374019207943286	0.23675	0.85897	0.45084	D	AEFDBCI	0.331751	0.43137	N	-0.125228829034082	0.36295	2.09611	-0.0472881749789216	0.37609	2.20429	0.999998652824893	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.662433	0.64102	0	.	.	5.52	5.52	0.82153	3.083000	0.49833	6.209000	0.54989	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.820	0.69694	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2292.83	38	chr5	78509910	.	T	C	2292.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=757;ExcessHet=0.119;FS=2.915;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.35;SOR=0.488	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1164,0,804	17	0	2	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1830,0,1243	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	1/0:0,49:82:99:2800,953,1238	9	1	8	1
chr5	80654891	80654891	C	A	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.C164A:p.A55E	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	954209	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0150061477337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-06	1.279e-06	0	2.749e-06	1.771e-06	0	0	.	.	0	0	0	0	0	0	1.771e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.47	0.12246	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	0.978762	0.25227	N	0	0.06538	N	-2.32	0.87830	D	0.75	0.02007	N	0.242	0.27316	-0.8064	0.54766	T	0.356	0.71912	T	6	0.10564113	0.19536	T	0.015006	0.35490	T	0.182	0.45420	0.373	0.38503	0.765572037222	0.76343	0.31866913252645906	0.31779	0.0283626076995	0.02914	0.618595957756	0.55530	T	0.104375	0.41389	T	-0.0061406	0.50804	T	-0.246597	0.50153	T	0.0685839621957088	0.08451	T	0.194181	0.02102	T	0.12030372	0.28312	0.36320138	0.61711	0.12030372	0.28311	0.36320138	0.61710	-8.402	0.63778	D	.	.	0.143	0.31431	B	.	.	0.627508	0.09959	6.716	0.88068106490986386	0.17692	0.05694	0.11614	N	AEFGBHCIJ	0.048195	0.08198	N	-1.23609767489749	0.04486	0.2025773	-1.33729953684814	0.03958	0.1856994	0.999999999945602	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	.	.	.	0.000000	0.12910	0.075000	0.14313	0.000000	0.17513	0.012000	0.18695	0.662000	0.26021	0.062000	0.16114	.	.	.	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	937.8	51	chr5	80654891	.	C	A	937.8	.	AC=1;AF=0.028;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=1;MLEAF=0.028;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:0,33:82:99:2800,1942,1902	17	0	1	1
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin 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	1	0	0	0	0	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.02632	854.33	34	chr5	87363477	.	A	G	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=737;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.68;SOR=0.637	GT:AD:DP:GQ:PL	0/1:51,43:94:99:868,0,1180	18	0	1	0
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	340.2	63	chr5	102270770	.	G	C	340.2	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,5:34:63:.:.:63,0,943:.	12	0	5	2
chr5	111102346	111102346	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon6:c.A544G:p.K182E	Glaucoma 1, open angle, G	.	.	.	.	.	.	.	0.7916	0.816	.	296578	Glaucoma_1,_open_angle,_G|not_specified	MedGen:C1835933,OMIM:609887|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.364	0.0465103253744	.	.	7.597e-05	0	8.985e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs762142269	6.396e-05	6.499e-05	5.744e-05	7.055e-05	0.0011	5.323e-05	4.937e-05	0.0005	0.0003	0	0.0002	0	2.531e-05	5.632e-05	0.0011	6.045e-05	0.0001	2.376e-05	9.917e-05	9.863e-05	3.878e-05	0.0002	0.0007	6.043e-05	4.909e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	5.913e-05	0	0	.	.	.	0.01	0.65728	D	0.926	0.51467	P	0.629	0.51727	P	0.000000	0.84330	D	0.042383	1	0.81001	D	3.4	0.91674	M	1.52	0.30669	T	-3.09	0.63438	D	0.679	0.69737	-0.6240	0.63823	T	0.182	0.52950	T	10	0.6880449	0.71683	D	0.04651	0.62489	D	0.364	0.68407	0.698	0.83499	0.63052666147	0.62750	0.664593042658561	0.66396	0.067127495233	0.07497	0.718112111092	0.69771	T	0.41466	0.76815	T	-0.0673181	0.41755	T	-0.0651745	0.65969	T	0.887453496456146	0.53795	D	0.876112	0.58827	D	0.8737959	0.89164	0.75186795	0.85333	0.8737959	0.89166	0.75186795	0.85334	-7.301	0.56203	T	0.6316503609619909	0.70112	0.333	0.55403	B	.;.;.	.;.;.	5.138460	0.86020	28.8	0.99820914936814087	0.90414	0.98963	0.89243	D	AEFGBI	0.701421	0.65811	D	0.680670008768036	0.78365	6.857025	0.650408437823112	0.78640	6.917217	0.999975087160963	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.5	4.27	0.50009	6.652000	0.74228	9.184000	0.79095	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8578:0.1422:0.0:0.0	12.213	0.53699	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	414.33	33	chr5	111102346	.	A	G	414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.844;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.728;SOR=0.687	GT:AD:DP:GQ:PL	0/1:28,21:49:99:428,0,677	18	0	1	0
chr5	113340599	113340599	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.G547A:p.A183T	Colorectal cancer, somatic	425	1090	7	0	0	7	0.00320073	.	.	.	734804	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0033434493211	0.0017	0.000798722	0.0025	0.0007	0.0010	0	0.0023	0.0038	0	0.0006	0.0023286	360	154602	rs75148264	0.0027	0.0027	0.0028	0.0026	0.0064	0.0026	0.0026	0.0048	0.0042	0.0006	0.0017	0.0065	0	0.0020	0.0064	0.0030	0.0030	0.0007	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0030	0.0027	0.0008	0	0.0037	0.0063	0.0002	0.0011	0	0.0024	0.0038	0.0012	0.195	0.20759	T	0.06	0.45744	T	0.0	0.02946	B	0.001	0.04355	B	0.450843	0.12509	N	0.642545	1	0.08975	N	.	.	.	1.25	0.36512	T	-0.04	0.07590	N	0.312	0.35194	-1.0062	0.28095	T	0.033	0.13986	T	9	0.0044106245	0.00090	T	0.003343	0.07451	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.19501911047765577	0.19419	0.0765748949308	0.08593	0.273665159941	0.06624	T	.	.	.	-0.691105	0.00041	T	-0.768866	0.02805	T	0.00031697255326435	0.00003	T	0.40256	0.10281	T	.	.	.	.	.	.	.	.	-3.641	0.18452	T	.	.	0.073	0.04806	B	.	.	0.349032	0.07221	3.817	0.74195682189564149	0.10605	0.07314	0.13336	N	AEFDBCI	0.046672	0.07775	N	-1.31891526004582	0.03459	0.1545445	-1.35575469894214	0.03738	0.1749991	0.999839913408045	0.43792	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.75052	0.99595	0	.	.	4.2	-0.0748	0.13062	0.058000	0.14178	0.242000	0.16320	-0.842000	0.02783	0.017000	0.19353	0.039000	0.21534	0.302000	0.24547	0.0:0.6731:0.1118:0.2152	8.803	0.34077	921	0.19240	.	.	.	.	.	.	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	1	0	0.006042	0.005051	0.006793	0.000000	0.000000	0.017241	0.009146	0.003788	0.05263	2798.83	34	chr5	113340599	.	C	T	2798.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.822;DP=909;ExcessHet=0.119;FS=0.463;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.527;SOR=0.679	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1517,0,1503	17	0	2	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.02632	1468.33	35	chr5	119133212	.	A	C	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=778;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.179;SOR=0.505	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1482,0,2411	18	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,38:129:99:0|1:128288438_C_G:589,0,2927:128288438	6	0	8	5
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	786.67	107	chr5	128288443	.	C	T	786.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.456;DP=1582;ExcessHet=0.3672;FS=130.34;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=2.02;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,38:134:99:0|1:128288438_C_G:574,0,3162:128288438	16	0	2	1
chr5	129461656	129461656	C	T	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.C646T:p.P216S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0334023264539	.	.	9.19e-06	0	0	0	0	1.673e-05	0	0	1.29e-05	2	154602	rs763007280	1.393e-06	6.84e-06	0	2.802e-06	2.321e-05	2.3e-07	9e-08	.	.	0	2.321e-05	0	0	0	0	9.05e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.03492	T	.	.	.	0.224	0.30397	B	0.046	0.24676	B	0.311834	0.14420	N	0.580917	1	0.08975	N	-0.145	0.04423	N	-0.0	0.62608	T	-0.1	0.08495	N	.	.	-0.9244	0.44943	T	0.007	0.02244	T	9	0.07457554	0.11415	T	0.033402	0.54952	D	0.031	0.07369	0.405	0.43738	0.043077524339	0.03247	0.4743405829658969	0.47353	0.172407162635	0.19416	0.731431126595	0.71715	T	0.004387	0.03798	T	-0.287127	0.09926	T	-0.650214	0.08939	T	0.0931199967473194	0.11583	T	0.423358	0.11306	T	0.058435384	0.11757	0.10559141	0.25386	0.058435384	0.11756	0.10559141	0.25385	-4.343	0.28775	T	.	.	0.073	0.04806	B	.;.	.;.	1.007137	0.13862	10.41	0.93819234260774254	0.23799	0.09674	0.15377	N	AEFDBHCIJ	0.064205	0.12455	N	-0.826878538623985	0.12626	0.6166281	-0.780860544438398	0.14965	0.7846615	0.999999999971971	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	3.46	3.46	0.38718	1.295000	0.32983	0.937000	0.22823	0.549000	0.26987	0.004000	0.16614	0.012000	0.20211	0.672000	0.33309	0.1742:0.6557:0.17:0.0	8.145	0.30269	721	0.55360	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	611.33	40	chr5	129461656	.	C	T	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.84;SOR=0.649	GT:AD:DP:GQ:PL	0/1:30,23:53:99:625,0,831	18	0	1	0
chr5	132588018	132588018	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon7:c.G980A:p.R327H	Nijmegen breakage syndrome-like disorder	0	1478	40	4	0	48	0.0159787	.	.	.	45934	not_specified|not_provided|RAD50-related_disorder|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.00635168319595	0.0024	0.00299521	0.0035	0.0007	0.0017	0.0003	0.0005	0.0039	0.0056	0.0079	0.0032794	507	154602	rs28903091	0.0026	0.0026	0.0023	0.0029	0.0080	0.0025	0.0025	0.0075	0.0073	0.0003	0.0017	0.0156	0.0001	0.0007	0.0078	0.0021	0.0038	0.0080	0.0022	0.0022	0.0023	0.0022	0.0068	0.0020	0.0020	0.0050	0.0044	0.0003	0	0.0010	0.0164	0	0.0006	0.0170	0.0030	0.0033	0.0068	0.063	0.36709	T	0.022	0.57587	D	0.994	0.66517	D	0.742	0.55764	P	0.000000	0.84330	D	0.049899	0.999994	0.58761	D	2.135	0.59519	M	3.06	0.08634	T	-2.47	0.53898	N	0.233	0.26233	-1.1840	0.00314	T	0.054	0.23034	T	10	0.0049374104	0.00106	T	0.006352	0.16696	T	0.206	0.49396	.	.	0.70759724671	0.70505	0.16685029423054523	0.16605	.	.	0.408416152	0.26237	T	0.276572	0.64916	T	-0.435264	0.01379	T	-0.393016	0.34198	T	0.0320217662024938	0.02310	T	0.907909	0.67446	D	0.27434513	0.50500	0.18635133	0.41803	0.27434513	0.50500	0.18635133	0.41802	-4.033	0.24296	T	0.5587478134398542	0.62667	0.104	0.19032	B	.;.;.;.;.	.;.;.;.;.	4.437000	0.68853	25.3	0.99926647966361482	0.99103	0.95974	0.66966	D	AEFBI	0.704112	0.65993	D	0.690279706738146	0.78997	6.985285	0.692445739575504	0.81805	7.613241	0.999999063309146	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	6.215000	0.72150	8.558000	0.77555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.799	0.88492	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	1	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1049.33	33	chr5	132588018	.	G	A	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.622;DP=696;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.479;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1063,0,978	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|1:99,17:116:29:0|1:132864353_G_C:29,0,3685:132864353	16	0	3	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	747.99	33	chr5	138386226	.	G	A	747.99	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,17:119:8:0|1:138386225_T_C:8,0,3380:138386225	15	0	4	0
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|1:76,26:102:99:0|1:139887481_C_T:102,0,1864:139887481	10	0	7	2
chr5	141096699	141096699	G	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.G1909A:p.A637T	.	17	1499	6	0	0	6	0.00199734	.	.	.	2825299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0134199571692	0.0043	0.00119808	0.0041	0.0010	0.0004	0	0.0030	0.0066	0.0023	0.0015	0.0036739	568	154602	rs148561261	0.0046	0.0045	0.0045	0.0046	0.0054	0.0045	0.0044	0.0053	0.0052	0.0014	0.0014	0.0012	0	0.0039	0.0024	0.0054	0.0033	0.0012	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0008	0.0012	0.0002	0.0030	0	0.0068	0.0043	0.0008	0.068	0.35726	T	0.062	0.45318	T	0.906	0.49993	P	0.382	0.43908	B	.	.	.	.	0.983147	0.24908	N	1.08	0.27187	L	0.76	0.49919	T	-3.15	0.64132	D	0.05	0.02179	-1.0097	0.27012	T	0.073	0.29483	T	9	0.0050607026	0.00109	T	0.01342	0.32810	T	0.112	0.31546	.	.	0.324436698001	0.32047	0.35017845745850656	0.34931	.	.	0.625871896744	0.56559	T	0.019443	0.15489	T	-0.535155	0.00358	T	-0.534098	0.18880	T	0.0293005209603354	0.01883	T	0.751925	0.37414	T	0.0391288	0.05343	0.09096869	0.21362	0.0391288	0.05343	0.09096869	0.21362	-8.116	0.61859	D	.	.	0.078	0.06896	B	.	.	1.872194	0.23783	16.15	0.99487504716836395	0.67235	0.15624	0.19002	N	AEFDI	0.099049	0.19946	N	-0.130072187437732	0.36087	2.081258	-0.176970563673101	0.32385	1.841958	2.13935557758401E-5	0.03498	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.586402	0.36253	0	.	.	4.16	4.16	0.48138	0.106000	0.15191	.	.	-0.336000	0.05739	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0943:0.0:0.7258:0.1798	6.577	0.21771	465	0.78421	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002179	0.000000	0.000000	0.000000	0.000000	0.000000	0.003268	0.011719	0.02632	1709.33	44	chr5	141096699	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1123;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-1.561;QD=12.3;ReadPosRankSum=-1.344;SOR=0.801	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1723,0,1908	18	0	1	0
chr5	141215730	141215730	A	G	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.A1607G:p.H536R	.	81	1438	3	0	0	3	0.00104203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00526305384911	0.0041	0.00119808	0.0041	0.0011	0.0004	0	0.0041	0.0064	0.0044	0.0010	0.0036222	560	154602	rs143032971	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0051	0.0013	0.0013	0.0011	2.519e-05	0.0046	0.0009	0.0053	0.0032	0.0009	0.0037	0.0037	0.0038	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0010	0.0012	0.0002	0.0031	0	0.0068	0.0043	0.0006	1.0	0.00964	T	0.697	0.05786	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	4.69	0.01694	T	2.79	0.00173	N	0.008	0.00068	-0.9167	0.45997	T	0.002	0.00585	T	9	0.013176799	0.00280	T	0.005263	0.13433	T	0.016	0.02506	.	.	0.128392430309	0.12331	0.0788298493121079	0.07817	.	.	0.650404930115	0.60043	T	0.00143	0.00891	T	-0.80256	0.00007	T	-0.917637	0.00391	T	0.00205275019088843	0.00021	T	0.135986	0.01074	T	0.024710722	0.01331	0.037174862	0.03315	0.024710722	0.01331	0.037174862	0.03315	0.314	0.00255	T	.	.	0.047	0.00072	B	.	.	-0.191160	0.03136	0.504	0.198603199531626	0.00689	0.00344	0.01781	N	AEFBI	0.032656	0.03729	N	-1.54603822832793	0.01558	0.06805489	-1.52746791754777	0.02135	0.09773543	0.00148769833489548	0.08576	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.42	0.433	0.15747	-1.665000	0.02067	.	.	-0.343000	0.05659	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2748:0.2936:0.4316:0.0	4.743	0.12399	687	0.59234	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001079	0.000000	0.000000	0.000000	0.000000	0.000000	0.003226	0.003817	0.02632	2269.33	149	chr5	141215730	.	A	G	2269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=1905;ExcessHet=0;FS=3.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.82;MQRankSum=-2.423;QD=15.65;ReadPosRankSum=0.004;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,61:145:99:0|1:141215730_A_G:2283,0,3326:141215730	18	0	1	0
chr5	141215752	141215752	C	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.C1629A:p.S543R	.	46	1473	3	0	0	3	0.00101729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0688844477342	0.0038	0.00119808	0.0040	0.0010	0.0004	0	0.0041	0.0064	0.0045	0.0010	0.0038033	588	154602	rs150315174	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0051	0.0013	0.0014	0.0011	0	0.0046	0.0009	0.0053	0.0032	0.0008	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0010	0.0012	0.0002	0.0031	0	0.0068	0.0043	0.0006	0.005	0.63226	D	0.003	0.76473	D	0.95	0.53885	P	0.693	0.53889	P	.	.	.	.	0.810166	0.34630	D	3.125	0.87999	M	0.55	0.54728	T	-4.53	0.78388	D	0.345	0.38643	-0.1466	0.79000	T	0.252	0.62142	T	9	0.008018523	0.00182	T	0.068884	0.70575	D	0.189	0.46613	0.767	0.89452	0.722794216926	0.72034	0.5148652395486593	0.51409	.	.	0.80194246769	0.82258	T	0.099836	0.40503	T	-0.376329	0.03286	T	-0.305385	0.44153	T	0.0556316748610866	0.06463	T	0.744226	0.36418	T	0.5328242	0.68991	0.4155244	0.65664	0.5328242	0.68992	0.4155244	0.65664	-11.597	0.82832	D	.	.	0.771	0.75979	P	.	.	2.633642	0.34254	19.57	0.99375267591100624	0.61628	0.58510	0.30661	D	AEFBI	0.380095	0.46286	N	0.00370412569670225	0.42024	2.524301	-0.256468538450222	0.29550	1.656388	0.167296654406409	0.17683	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	3.0	3.0	0.33773	0.287000	0.18678	.	.	0.304000	0.19002	0.000000	0.06391	0.000000	0.08366	0.154000	0.20445	0.0:0.887:0.0:0.113	9.643	0.39013	687	0.59234	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	0.001075	0.000000	0.000000	0.000000	0.000000	0.000000	0.003205	0.003817	0.02632	2149.33	149	chr5	141215752	.	C	A	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.99;MQRankSum=-2.191;QD=16.04;ReadPosRankSum=-0.321;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,58:134:99:0|1:141215730_A_G:2163,0,3007:141215730	18	0	1	0
chr5	141303078	141303078	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T788C:p.V263A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00604627976138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	0.0001	1.376e-06	0	9.099e-07	0	0	.	.	0	0	0	0	0	0	9.099e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.909	0.02970	T	0.0	0.02946	B	0.002	0.06944	B	0.940851	0.07593	N	1.028430	0.999981	0.18198	N	-0.315	0.03579	N	-1.16	0.78082	T	0.0	0.07008	N	0.026	0.00527	-0.9988	0.30255	T	0.156	0.48721	T	10	0.053597122	0.05576	T	0.006046	0.15787	T	0.135	0.36572	0.289	0.24921	0.350746614512	0.34690	0.13642506644455274	0.13566	0.220082323975	0.24552	0.304845035076	0.11128	T	0.158739	0.50188	T	-0.262087	0.12658	T	-0.614247	0.11642	T	0.027447385072358	0.01608	T	0.0335966	0.00221	T	0.045551173	0.07475	0.03717969	0.03315	0.045551173	0.07474	0.03717969	0.03315	-1.885	0.02775	T	.	.	0.064	0.01668	B	.	.	1.143222	0.15306	11.75	0.24269119381160012	0.01065	0.41932	0.26766	N	AEFDBI	0.036810	0.04965	N	-1.10537611144274	0.06547	0.3016689	-1.03361479304643	0.09051	0.4482181	0.0021261352148235	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.36	0.08610	0.419000	0.20967	.	.	-0.807000	0.03101	0.857000	0.30561	0.000000	0.08366	0.931000	0.46843	0.4458:0.1599:0.3943:0.0	4.755	0.12454	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	.	.	.	.	.	.	.	.	0.02632	35.33	35	chr5	141303078	.	A	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.939;DP=1186;ExcessHet=0;FS=105.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=2.15;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,32:178:49:.:.:49,0,5013:.	18	0	1	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	0/1:119,54:173:99:.:.:625,0,3865:.	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	0/1:115,63:178:99:.:.:1497,0,2704:.	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	0/1:237,105:342:99:313,0,4486	8	0	11	0
chr5	141957070	141957070	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.C782T:p.T261M	.	425	1094	3	0	0	3	0.00136924	.	.	.	721269	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.619	.	0.0039	0.00379393	0.0041	0.0013	0.0054	0.0014	0.0017	0.0056	0.0055	0.0009	0.0042367	655	154602	rs151002555	0.0055	0.0055	0.0056	0.0054	0.0063	0.0054	0.0054	0.0062	0.0062	0.0011	0.0058	0.0073	0.0007	0.0016	0.0031	0.0063	0.0049	0.0013	0.0038	0.0038	0.0042	0.0035	0.0064	0.0036	0.0035	0.0054	0.0050	0.0013	0	0.0064	0.0066	0.0012	0.0008	0.0034	0.0055	0.0067	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.47	0.71715	M	0.34	0.58176	T	-4.47	0.77881	D	0.888	0.88687	-0.1845	0.78067	T	0.330	0.69809	T	10	0.021894366	0.00534	T	.	.	.	0.619	0.85196	.	.	0.955661878482	0.95518	0.7332111328457818	0.73266	0.742833598024	0.63358	0.49099484086	0.37576	T	0.401703	0.75893	T	-0.014831	0.49586	T	0.212459	0.83791	D	0.0278394376796234	0.01665	T	0.771423	0.40183	T	0.6960002	0.77838	0.5440432	0.73645	0.6960002	0.77839	0.5440432	0.73645	-9.028	0.67877	D	.	.	0.099	0.16800	B	.	.	5.223933	0.87673	29.3	0.99905647039428724	0.97651	0.99109	0.91358	D	AEFDBI	0.920614	0.89286	D	0.995544095833345	0.95605	13.78228	0.944895496908714	0.97248	15.81909	0.999999999999986	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.32	5.32	0.75377	10.003000	0.99689	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	16.541	0.84232	876	0.30350	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	0.007049	0.025253	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1601.33	154	chr5	141957070	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=2490;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.132;SOR=0.556	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1615,0,2321	18	0	1	0
chr5	149628896	149628896	A	G	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon12:c.A1748G:p.N583S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00615343447298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.694	0.05844	T	0.003	0.11197	B	0.006	0.12133	B	0.696891	0.06179	N	1.129870	1	0.08975	N	0	0.06538	N	0.69	0.51714	T	0.11	0.05706	N	0.075	0.04913	-0.9960	0.31028	T	0.053	0.22462	T	10	0.054586947	0.05833	T	0.006153	0.16111	T	0.028	0.06331	0.25	0.18757	0.0401082797425	0.02173	0.10894628919232965	0.10823	0.0726449389514	0.08142	0.241830527782	0.02957	T	5.16E-4	0.00194	T	-0.360984	0.04074	T	-0.756305	0.03246	T	0.0859324708580971	0.10728	T	0.530047	0.17581	T	0.031848542	0.03099	0.028200308	0.01035	0.031848542	0.03099	0.028200308	0.01035	-1.459	0.01682	T	.	.	0.064	0.01715	B	.	.	-1.718967	0.00187	0.003	0.27578895801086245	0.01376	0.00901	0.03531	N	AEFDBI	0.021978	0.01042	N	-1.55379329916806	0.01513	0.06605129	-1.63521647991649	0.01454	0.06577901	0.999999727366376	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	-8.42	0.00836	-1.394000	0.02624	-3.677000	0.02612	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1785:0.3699:0.4516:0.0	8.614	0.32984	782	0.47442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1162.33	83	chr5	149628896	.	A	G	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=936;ExcessHet=0;FS=3.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.77;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,31:68:99:0|1:149628896_A_G:1176,0,1420:149628896	18	0	1	0
chr5	150167303	150167303	G	A	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.G427A:p.G143R	.	422	1029	67	4	0	75	0.0351617	.	.	.	215311	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	.	.	0.00259585	0.0161	0	0	0	.	0.0116	0	0.25	0.0005757	89	154602	rs539576362	0.0015	0.0016	0.0014	0.0015	0.0170	0.0014	0.0014	0.0133	0.0120	0.0006	0.0038	0.0058	0	0	0.0170	0.0010	0.0035	0.0119	0.0017	0.0017	0.0018	0.0017	0.0128	0.0016	0.0015	0.0103	0.0093	0.0003	0	0.0032	0.0052	0.0002	0	0.0240	0.0015	0.0057	0.0128	0.558	0.06421	T	0.327	0.18732	T	0.037	0.20876	B	0.028	0.21332	B	0.982722	0.07851	N	1.008340	0.999101	0.21619	N	1.61	0.41143	L	0.96	0.42888	T	-0.03	0.07444	N	0.181	0.24510	-1.0305	0.20292	T	0.096	0.36212	T	10	0.002599448	0.00040	T	.	.	.	0.098	0.28162	0.442	0.49811	0.363336886782	0.35939	0.5788254701231486	0.57811	0.459721899748	0.45540	0.822305321693	0.85381	D	0.105675	0.41636	T	-0.500389	0.00569	T	-0.556305	0.16727	T	0.0584471576926685	0.06921	T	0.627137	0.25394	T	0.056302194	0.11059	0.095683105	0.22703	0.056302194	0.11059	0.095683105	0.22702	-8.218	0.62546	D	.	.	0.295	0.58843	B	.;.	.;.	3.424252	0.47561	22.5	0.99039833586411208	0.51006	0.94623	0.61772	D	AEFDBI	0.563014	0.57037	D	-0.207219573633932	0.32837	1.856359	-0.0884118151448955	0.35868	2.080283	0.999999345968182	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.73	3.73	0.41982	3.614000	0.53901	5.616000	0.49070	-0.202000	0.08738	0.994000	0.38300	1.000000	0.68203	0.717000	0.34675	0.1112:0.0:0.8888:0.0	8.467	0.32123	672	0.60758	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	0.009855	0.000000	0.012324	0.000000	0.000000	0.021277	0.012397	0.004630	0.02632	245.33	15	chr5	150167303	.	G	A	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.9;SOR=0.73	GT:AD:DP:GQ:PL	0/1:14,12:26:99:259,0,295	18	0	1	0
chr5	151288934	151288934	C	T	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon5:c.G527A:p.R176K	.	1075	439	2	6	0	14	0.0156951	0.9999	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0091853	0	.	.	.	.	0	.	.	0.0001153	3	26028	rs138293383	0.0044	0.0009	0.0031	0.0052	0.0056	0.0015	0.0009	0.0010	0.0004	0	0	0	0	0	0.0056	0.0025	0.0192	0	0.0046	0.0047	0.0041	0.0052	0.0268	0.0044	0.0043	0.0231	0.0217	0.0010	0.0175	0.0026	0.0179	0	0.0053	0.0207	0.0050	0.0062	0.0268	0.545	0.06691	T	0.238	0.24549	T	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.61	0.13095	T	0.11	0.05706	N	0.187	0.20395	-0.9552	0.40060	T	0.013	0.05129	T	6	0.0050709248	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0401082797425	0.02173	0.2737607287719573	0.27289	0.0351969744891	0.03713	.	.	.	.	.	.	-0.717521	0.00029	T	-0.802768	0.01834	T	0.0224380385084349	0.00959	T	0.167383	0.01560	T	.	.	.	.	.	.	.	.	-5.272	0.39665	T	.	.	0.192	0.41171	B	.	.	1.981830	0.25175	16.67	0.81203421815851884	0.13570	0.00314	0.01657	N	AEFGI	0.066884	0.13120	N	-0.566139754880559	0.19981	1.049934	-0.863350825191903	0.12966	0.670075	1.89784645244886E-4	0.05844	0.497415	0.19182	0	0.547309	0.14657	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	0.225	0.225	0.14598	0.305000	0.19006	-0.124000	0.11690	0.454000	0.21428	0.093000	0.22645	0.001000	0.17328	0.009000	0.08673	.	.	.	644	0.63734	.	.	.	.	.	rs138293383	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008299	0.007042	0.000000	0.000000	0.000000	0.000000	0.007576	0.034483	0.02632	53.53	9	chr5	151288934	.	C	T	53.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0394;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,147	18	0	1	0
chr5	154814020	154814020	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367715:exon18:c.C2399T:p.P800L,LARP1:NM_001367713:exon19:c.C2600T:p.P867L,LARP1:NM_001367716:exon19:c.C2501T:p.P834L,LARP1:NM_001367717:exon19:c.C2906T:p.P969L,LARP1:NM_001367718:exon19:c.C3116T:p.P1039L,LARP1:NM_001367719:exon19:c.C2600T:p.P867L,LARP1:NM_015315:exon19:c.C2984T:p.P995L,LARP1:NM_033551:exon19:c.C3215T:p.P1072L,LARP1:NM_001367714:exon20:c.C2600T:p.P867L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00759287747425	0.0006	0.000998403	0.0006	0.0002	8.64e-05	0	0.0002	0.0006	0.0011	0.0013	0.0004916	76	154602	rs148515883	0.0005	0.0005	0.0004	0.0006	0.0049	0.0005	0.0005	0.0034	0.0030	8.961e-05	0.0002	0.0003	2.519e-05	0.0001	0.0049	0.0004	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0005	0	0	9.416e-05	0	0.0009	0.0014	0.0017	0.407	0.10245	T	0.388	0.15602	T	0.0	0.02946	B	0.001	0.04355	B	0.095250	0.20133	N	0.545245	0.817224	0.34724	D	.	.	.	1.97	0.22067	T	0.36	0.03700	N	0.167	0.17691	-1.0357	0.18637	T	0.030	0.12935	T	10	0.0063082576	0.00142	T	0.007593	0.20139	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.24907486879027219	0.24821	0.635579275713	0.57371	0.31773597002	0.13077	T	.	.	.	-0.554788	0.00273	T	-0.59977	0.12830	T	0.0208148962799592	0.00781	T	0.734627	0.35069	T	.	.	.	.	.	.	.	.	-4.511	0.31032	T	.	.	0.065	0.01986	B	.	.	3.030904	0.40599	21.2	0.9770021841498393	0.35430	0.62171	0.31701	D	AEFDBCI	0.473978	0.51844	N	-0.422690604656521	0.24676	1.334067	-0.240635588156417	0.30096	1.691589	0.999999996617982	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	4.223000	0.58384	3.962000	0.40756	0.599000	0.40250	0.180000	0.24064	0.399000	0.24702	0.400000	0.26782	0.0:1.0:0.0:0.0	16.881	0.85930	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2343.33	36	chr5	154814020	.	C	T	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=833;ExcessHet=0;FS=3.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.804;SOR=0.5	GT:AD:DP:GQ:PL	0/1:100,99:199:99:2357,0,2633	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	0/1:111,34:155:99:160,0,2368	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	1/1:0,524:524:99:.:.:23443,1585,0:.	5	7	6	1
chr5	157163189	157163189	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1076T:p.S359L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00129429698316	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	1.94e-05	3	154602	rs749588822	7.525e-06	7.524e-06	6.807e-06	8.251e-06	5.974e-05	4.04e-06	2.95e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	6.295e-06	0	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	2.404e-05	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0.0034	1.47e-05	0	0	0.224	0.18691	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.000153	0.00484	N	7.314390	1	0.08975	N	0.14	0.08730	N	3.78	0.03836	T	-0.29	0.11728	N	0.079	0.05414	-0.9529	0.40468	T	0.008	0.02884	T	10	0.053507894	0.05552	T	0.001294	0.01784	T	0.010	0.01040	0.126	0.03173	0.0297737177859	0.01360	0.11376277735104402	0.11304	0.085779148831	0.09691	0.268180251122	0.05905	T	0.005826	0.05277	T	-0.449876	0.01131	T	-0.801127	0.01874	T	0.0447818724195002	0.04562	T	0.275672	0.04719	T	0.030110333	0.02617	0.037637364	0.03459	0.030110333	0.02617	0.037637364	0.03459	-6.208	0.47988	T	.	.	0.087	0.11269	B	.	.	-0.511686	0.01830	0.145	0.72149835576126087	0.09873	0.00451	0.02188	N	AEFBI	0.023915	0.01402	N	-1.5622090401924	0.01465	0.06391162	-1.65001843863169	0.01376	0.06214498	0.0448259606382474	0.14628	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.22	-3.49	0.04424	-2.071000	0.01466	-0.894000	0.07016	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3149:0.217:0.4681:0.0	4.350	0.10586	554	0.71839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1996.33	141	chr5	157163189	.	G	A	1996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=1005;ExcessHet=0;FS=10.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.23;SOR=1.279	GT:AD:DP:GQ:PL	0/1:73,75:148:99:2010,0,1940	18	0	1	0
chr5	157319874	157319874	C	T	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon13:c.C1391T:p.T464M,CYFIP2:NM_001037333:exon14:c.C1469T:p.T490M,CYFIP2:NM_001291722:exon14:c.C1469T:p.T490M,CYFIP2:NM_014376:exon14:c.C1469T:p.T490M	.	.	.	.	.	.	.	.	.	.	YES	1316223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	0.291	0.0156012551625	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478391225	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	0	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0.0002	0	0	0	0	0	0.025	0.48642	D	0.08	0.42614	T	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.043296	1	0.81001	D	2.42	0.70002	M	1.9	0.23486	T	-3.1	0.63554	D	0.651	0.66443	-0.8901	0.48925	T	0.171	0.51261	T	10	0.75606763	0.75992	D	0.015601	0.36422	T	0.291	0.61040	0.817	0.93127	0.325710239843	0.32177	0.836620171706622	0.83622	1.28484987636	0.82633	0.85511636734	0.90384	D	0.286147	0.65893	T	0.0427674	0.57406	T	-0.176344	0.56860	T	0.972840487957001	0.69858	D	0.979502	0.92959	D	0.24469887	0.47421	0.18610467	0.41763	0.24469887	0.47421	0.18610467	0.41762	-11.336	0.81469	D	.	.	0.097	0.17742	B	.;.;.;.;.;.	.;.;.;.;.;.	4.402985	0.68047	25.2	0.99905110958785281	0.97576	0.96580	0.69853	D	AEFDBI	0.635337	0.61488	D	0.744061341293008	0.82518	7.782326	0.761866910191762	0.87042	9.087044	0.999999743115576	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.97	5.97	0.96935	6.048000	0.70674	7.634000	0.62871	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:0.8652:0.1348:0.0	15.859	0.78789	765	0.49814	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1936.33	33	chr5	157319874	.	C	T	1936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=753;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-2.021;SOR=0.779	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1950,0,1431	18	0	1	0
chr5	157651180	157651180	G	A	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.C899T:p.S300F,SOX30:NM_178424:exon1:c.C899T:p.S300F	.	428	1092	2	0	0	2	0.000914913	.	.	.	2257733	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.699	0.561981112153	7.7e-05	.	9.444e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs375931805	8.513e-05	8.756e-05	6.827e-05	0.0001	0.0007	7.235e-05	6.821e-05	0.0002	0.0001	0	2.292e-05	0	0	1.876e-05	0.0007	9.734e-05	9.986e-05	4.666e-05	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	2.405e-05	0	6.531e-05	0	0	0	0	7.35e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000032	0.55875	D	0.000000	0.995864	0.81001	D	0.895	0.22405	L	-4.91	0.98352	D	-2.66	0.56945	D	0.568	0.64052	1.101	0.99714	D	0.908	0.96949	D	10	0.6929982	0.71970	D	0.561981	0.96005	D	0.699	0.89145	.	.	0.909011573051	0.90810	0.5716656614270543	0.57094	.	.	0.744324684143	0.73608	T	0.023644	0.18014	T	0.15416	0.69658	D	0.23871	0.85085	D	0.500446498394012	0.32645	D	0.867613	0.56877	D	0.5298894	0.68824	0.6329098	0.78578	0.5298894	0.68825	0.6329098	0.78579	-6.071	0.49015	T	0.3406921557368213	0.43843	0.44	0.61705	A	.;.	.;.	4.937222	0.81443	27.6	0.99835300537232086	0.91628	0.98797	0.86978	D	AEFDBI	0.815338	0.73734	D	0.506553494181556	0.67476	5.086763	0.559889642939831	0.72088	5.75509	0.999937597437235	0.46732	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	5.18	5.18	0.71140	6.827000	0.75095	11.818000	0.97148	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	16.902	0.85985	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	34	chr5	157651180	.	G	A	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=767;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.427;SOR=0.841	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1620,0,1760	18	0	1	0
chr5	170909700	170909700	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon6:c.G529A:p.A177T	.	478	1042	2	0	0	2	0.000958773	.	.	.	3203881	RANBP17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.375	.	0.0002	0.0123802	0.0054	0.0006	8.818e-05	0.0719	0.0002	0.0002	0.0044	0.0002	0.0049158	760	154602	rs80184931	0.0025	0.0026	0.0026	0.0025	0.0854	0.0025	0.0024	0.0830	0.0820	0.0002	4.531e-05	0.0001	0.0854	7.536e-05	0.0011	9.364e-05	0.0025	0.0006	0.0026	0.0025	0.0020	0.0031	0.0678	0.0023	0.0023	0.0618	0.0595	0.0004	0	0.0001	0.0003	0.0678	0.0002	0	0.0001	0.0010	0.0011	0.021	0.49117	D	0.037	0.51737	D	0.87	0.47827	P	0.411	0.44827	B	0.000008	0.62929	D	0.000000	0.999959	0.52396	D	2.47	0.71715	M	-0.21	0.66294	T	-3.51	0.68298	D	0.809	0.80473	-0.7012	0.60381	T	0.048	0.20672	T	10	0.0048198104	0.00102	T	.	.	.	0.375	0.69358	.	.	0.783064499603	0.78106	0.3644677923459103	0.36360	0.0601548666932	0.06689	0.605580806732	0.53692	T	0.119473	0.44103	T	-0.199229	0.20917	T	0.0278973	0.72142	D	0.0377265344132991	0.03283	T	0.978402	0.92384	D	0.41596714	0.61822	0.35664946	0.61172	0.41596714	0.61823	0.35664946	0.61172	-9.115	0.68434	D	.	.	0.491	0.64159	A	.	.	3.825377	0.55259	23.6	0.9989787537909528	0.97048	0.98207	0.80539	D	AEFBI	0.653498	0.62651	D	0.744017412837528	0.82515	7.781607	0.730411102327397	0.84689	8.362175	0.999987014793626	0.51787	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.653000	0.74232	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.230	0.86864	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	924.33	38	chr5	170909700	.	G	A	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.105;DP=842;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-3.179;SOR=0.542	GT:AD:DP:GQ:PL	0/1:53,42:95:99:938,0,1260	18	0	1	0
chr5	178222446	178222446	G	C	exonic	PHYKPL	.	nonsynonymous SNV	PHYKPL:NM_001278346:exon8:c.C713G:p.S238C,PHYKPL:NM_153373:exon8:c.C836G:p.S279C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0161740158904	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs754564386	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.026	0.55759	D	0.986	0.61523	D	0.838	0.60045	P	0.000003	0.62929	D	0.105732	0.999794	0.49177	D	1.655	0.42436	L	2.04	0.20808	T	-2.24	0.50175	N	0.399	0.43995	-0.9379	0.42947	T	0.131	0.44148	T	10	0.811556	0.80434	D	0.016174	0.37293	T	0.315	0.63694	0.835	0.94294	0.620205906853	0.61713	0.826687427510996	0.82626	0.0836660372965	0.09433	0.560765147209	0.47376	T	0.484783	0.81195	T	-0.049828	0.44473	T	-0.293865	0.45370	T	0.821211457252502	0.47863	D	0.934707	0.75503	D	0.71458346	0.78861	0.5630313	0.74713	0.71458346	0.78862	0.5630313	0.74713	-6.977	0.53866	T	0.6006010105668234	0.66761	0.190	0.40810	B	.	.	4.463509	0.69484	25.4	0.99364417145724226	0.61155	0.97898	0.77962	D	AEFDBHCI	0.957353	0.97648	D	0.80773480817366	0.86587	8.93364	0.794290271057341	0.89393	9.956647	0.999999999999996	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.34	5.34	0.75982	7.962000	0.87458	7.349000	0.58286	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.919	0.86028	952	0.10565	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1460.33	34	chr5	178222446	.	G	C	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.1;SOR=0.697	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1474,0,1658	18	0	1	0
chr5	179132290	179132290	T	C	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon15:c.A2230G:p.I744V	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	521092	Inborn_genetic_diseases|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0273476638507	.	.	4.148e-05	0	0	0	0	7.554e-05	0	0	3.23e-05	5	154602	rs201241062	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	0.0002	0.0001	0	2.519e-05	0	0.0010	0.0001	0.0003	1.159e-05	4.599e-05	4.596e-05	5.138e-05	4.035e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0.0032	8.819e-05	0	0	0.003	0.68238	D	0.027	0.55341	D	0.924	0.51285	P	0.713	0.54588	P	0.000043	0.53742	D	0.000000	0.999992	0.58761	D	3.305	0.90531	M	-0.03	0.63077	T	-0.82	0.22508	N	0.486	0.52029	-0.2465	0.76453	T	0.360	0.72163	T	10	0.741114	0.74964	D	0.027348	0.50169	D	0.379	0.69696	0.816	0.93060	0.637674672556	0.63469	0.7946359644941969	0.79416	0.902524785504	0.70688	0.60198777914	0.53185	T	0.190439	0.54497	T	-0.0853553	0.38842	T	-0.155833	0.58725	T	0.530081748962402	0.33737	D	.	.	.	0.3966036	0.60497	0.290496	0.55072	0.3966036	0.60497	0.290496	0.55072	-6.045	0.46654	T	.	.	0.242	0.47589	B	.;.	.;.	3.721428	0.53179	23.3	0.99914668851207078	0.98309	0.98971	0.89357	D	AEFDBI	0.869437	0.78997	D	0.577724087448709	0.71784	5.704135	0.550420995128271	0.71426	5.653172	0.999999927970264	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	6.138000	0.71473	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	14.480	0.67152	649	0.63102	ADAM-TS Spacer 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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	745.33	34	chr5	179132290	.	T	C	745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.465;DP=671;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.801;SOR=1.044	GT:AD:DP:GQ:PL	0/1:20,31:51:99:759,0,489	18	0	1	0
chr6	4069327	4069327	A	T	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.T896A:p.M299K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00383786041192	.	0.000399361	0.0002	0	0	0.0023	0	0	0	0.0001	0.0001552	24	154602	rs200626060	7.73e-05	7.73e-05	7.351e-05	8.113e-05	0.0023	6.533e-05	6.136e-05	0.0020	0.0018	0	0	0	0.0023	0	0	8.993e-07	9.935e-05	0.0002	9.195e-05	9.187e-05	0.0001	6.717e-05	0.0025	5.526e-05	4.363e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0002	0.003	0.68238	D	0.004	0.74150	D	0.589	0.39027	P	0.288	0.40614	B	0.145288	0.02918	N	1.553840	1	0.08975	N	1.995	0.54099	M	1.96	0.22270	T	-1.96	0.45404	N	0.213	0.23758	-1.0052	0.28397	T	0.018	0.07612	T	10	0.0073269606	0.00167	T	0.003838	0.08992	T	0.105	0.29889	.	.	0.0551355673512	0.04727	0.299055282247955	0.29818	0.0749973977164	0.08415	0.245693191886	0.03328	T	0.005883	0.05325	T	-0.480014	0.00739	T	-0.469067	0.25615	T	0.0558404591355056	0.06498	T	0.585041	0.21304	T	0.503267	0.67286	0.37359607	0.62544	0.503267	0.67287	0.37359607	0.62543	-2.931	0.09457	T	.	.	0.185	0.41387	B	.;.	.;.	1.243033	0.16388	12.51	0.7951182663541021	0.12775	0.02807	0.07532	N	AEFDHI	0.061582	0.11784	N	-0.929771108660479	0.10150	0.4837113	-1.06141361722162	0.08470	0.416646	0.999895294955888	0.45129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.29	-5.56	0.02328	0.062000	0.14264	-1.098000	0.06337	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.306:0.1344:0.4286:0.131	3.168	0.06150	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1915.33	37	chr6	4069327	.	A	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=990;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.529;SOR=0.672	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1929,0,1834	18	0	1	0
chr6	17637748	17637748	A	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon15:c.T1743G:p.D581E,NUP153:NM_005124:exon16:c.T1869G:p.D623E,NUP153:NM_001278209:exon17:c.T1962G:p.D654E	.	430	1081	11	0	0	11	0.00506213	.	.	.	699467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0065042790654	0.0045	0.00299521	0.0048	0.0011	0.0014	0	0.0047	0.0064	0.0045	0.0060	0.0048576	751	154602	rs61748574	0.0058	0.0057	0.0058	0.0058	0.0176	0.0057	0.0056	0.0148	0.0137	0.0009	0.0017	0.0008	0	0.0039	0.0176	0.0064	0.0056	0.0055	0.0040	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0010	0	0.0034	0.0014	0	0.0032	0.0340	0.0065	0.0028	0.0039	0.399	0.10517	T	0.551	0.09393	T	0.102	0.25827	B	0.048	0.24975	B	0.059073	0.22352	N	0.379952	1	0.08975	N	2.4	0.69460	M	1.59	0.28836	T	-0.5	0.15782	N	0.064	0.03613	-0.9679	0.37632	T	0.017	0.06950	T	10	0.008774191	0.00199	T	0.006504	0.17129	T	0.051	0.14325	0.549	0.66436	0.583783962782	0.58051	0.15777850133853077	0.15698	0.0448611855857	0.04851	0.320056021214	0.13429	T	0.009123	0.08323	T	-0.579136	0.00195	T	-0.599819	0.12826	T	0.00686507471851824	0.00078	T	0.859414	0.55137	D	0.016476626	0.00200	0.022436127	0.00268	0.016476626	0.00200	0.022436127	0.00268	-3.121	0.11539	T	.	.	0.121	0.31658	B	.;.;.	.;.;.	1.238146	0.16335	12.47	0.74435273872029661	0.10694	0.80698	0.40269	D	AEFBI	0.124234	0.24020	N	-0.816928905228238	0.12878	0.6306189	-0.783641183062532	0.14896	0.7807172	0.0878242586402551	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	0.7	0.17258	1.228000	0.32190	1.101000	0.24069	-0.050000	0.17177	0.943000	0.32764	0.991000	0.31484	0.432000	0.27494	0.4051:0.1801:0.4148:0.0	4.687	0.12144	482	0.77288	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008073	0.005051	0.004076	0.017751	0.000000	0.000000	0.003049	0.011364	0.05263	4789.83	33	chr6	17637748	.	A	C	4789.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.224;DP=951;ExcessHet=0.119;FS=2.289;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.832;SOR=0.573	GT:AD:DP:GQ:PL	0/1:90,85:175:99:2276,0,2481	17	0	2	0
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	0/1:39,17:64:99:210,0,536	7	0	12	0
chr6	26017716	26017716	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C17T:p.P6L	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00962809099367	.	.	6.873e-05	0	0	0.0007	0	1.573e-05	0	6.241e-05	5.17e-05	8	154602	rs776480210	3.012e-05	3.01e-05	2.315e-05	3.715e-05	0.0005	2.283e-05	2.033e-05	0.0003	0.0002	2.991e-05	0	0	0.0005	1.89e-05	0	1.709e-05	3.313e-05	3.479e-05	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.387e-05	0	0	0	0	0.0006	0	0	2.94e-05	0	0	0.039	0.42487	D	0.026	0.55759	D	0.004	0.12183	B	0.006	0.12133	B	0.000007	0.62929	N	0.111433	0.999976	0.53665	D	0	0.06538	N	2.35	0.16217	T	-3.54	0.68651	D	0.352	0.39356	-1.0113	0.26510	T	0.010	0.03492	T	10	0.070050925	0.10138	T	0.009628	0.25176	T	0.160	0.41473	0.21	0.12781	0.316788114976	0.31282	0.3966223728687706	0.39577	.	.	0.404284775257	0.25665	T	0.720393	0.92093	D	-0.444854	0.01211	T	-0.485892	0.23821	T	0.143226027696074	0.16549	T	0.837516	0.51030	T	0.12675662	0.29680	0.17207569	0.39436	0.12675662	0.29679	0.17207569	0.39435	-4.398	0.29530	T	.	.	0.126	0.26731	B	.	.	2.454438	0.31607	18.79	0.96056774387702826	0.28579	0.94520	0.61431	D	ALL	0.384468	0.46558	N	-0.640231907076008	0.17745	0.9157243	-0.586304514799077	0.19850	1.066848	0.999999999791518	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.273489	0.05413	2	.	.	4.2	2.4	0.28568	6.009000	0.70403	3.940000	0.40597	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.172:0.0:0.828:0.0	9.845	0.40190	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	34	chr6	26017716	.	G	A	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=744;ExcessHet=0;FS=5.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.49;SOR=1.375	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1222,0,1447	18	0	1	0
chr6	29486960	29486960	A	C	exonic	MAS1L	.	nonsynonymous SNV	MAS1L:NM_052967:exon1:c.T943G:p.F315V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00169303900075	.	.	8.25e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767271657	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.04	0.50809	D	0.472	0.36563	P	0.268	0.39801	B	.	.	.	.	0.993317	0.23734	N	1.6	0.40776	L	1.22	0.37052	T	-6.85	0.93097	D	0.162	0.17002	-1.0405	0.17162	T	0.034	0.14639	T	9	0.40483642	0.55820	T	0.001693	0.02805	T	0.159	0.41286	0.803	0.92160	0.0716867268079	0.06686	0.11464837880634492	0.11392	0.143592484051	0.16211	0.429545402527	0.29145	T	0.202825	0.56111	T	-0.149144	0.28447	T	-0.452012	0.27475	T	0.268199007206472	0.23670	T	.	.	.	0.11196092	0.26453	0.1972641	0.43498	0.11196092	0.26453	0.1972641	0.43497	-6.927	0.53499	T	.	.	0.245	0.47944	B	.	.	2.360764	0.30275	18.39	0.86070621541581094	0.16294	0.17805	0.19995	N	AEBI	0.055068	0.10066	N	-0.570583311937534	0.19843	1.041685	-0.668548954335902	0.17749	0.9451516	0.00967753474356065	0.11895	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	0.005000	0.13029	.	.	0.573000	0.29008	0.040000	0.20979	0.000000	0.08366	0.077000	0.17074	1.0:0.0:0.0:0.0	8.383	0.31644	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	.	.	.	.	.	.	.	.	0.02632	1256.33	36	chr6	29486960	.	A	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=799;ExcessHet=0;FS=7.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.315;SOR=1.313	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1270,0,1489	18	0	1	0
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V,HLA-A:NM_002116:exon4:c.C806T:p.A269V	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	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;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062092	0.075758	0.065217	0.069149	0.050000	0.034483	0.048780	0.079545	0.05263	3200.83	158	chr6	29944308	.	C	T	3200.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.015;DP=2647;ExcessHet=0.119;FS=14.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.49;MQRankSum=0.273;QD=11.72;ReadPosRankSum=0.34;SOR=0.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,46:135:99:0|1:29944308_C_T:1566,0,3557:29944308	17	0	2	0
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|1:137,69:206:99:0|1:31269990_T_C:2474,0,5545:31269990	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|1:139,29:168:99:0|1:31270154_CAGA_C:799,0,5749:31270154	10	0	9	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T,HLA-C:NM_002117:exon3:c.G544A:p.A182T	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	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	0.054595	0.055556	0.063859	0.009709	0.100000	0.077586	0.064417	0.041667	0.05263	2888.83	224	chr6	31271148	.	C	T	2888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.632;DP=3136;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.52;MQRankSum=6.89;QD=7.2;ReadPosRankSum=1.4;SOR=0.656	GT:AD:DP:GQ:PL	0/1:144,71:215:99:1406,0,4538	17	0	2	0
chr6	31356242	31356242	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G544A:p.A182T	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00289652785249	.	.	0.0021	0.0006	0.0083	0.0012	0.0020	0.0017	0.0039	0.0008	0.0033893	524	154602	rs1050683	0.0038	0.0093	0.0036	0.0039	0.0145	0.0037	0.0036	0.0135	0.0130	0.0020	0.0145	0.0207	0.0135	0.0064	0.0074	0.0025	0.0055	0.0045	0.0005	0.0092	0.0005	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0007	0.0017	0.0005	0	0	0.0005	0	0	0.246	0.31532	T	0.125	0.35330	T	0.005	0.12996	B	0.035	0.22741	B	0.774906	0.06619	U	1.200770	1	0.08975	N	.	.	.	5.66	0.00776	T	-1.05	0.36586	N	0.158	0.16447	-0.9347	0.43439	T	0.003	0.00994	T	10	0.0057958066	0.00129	T	0.002897	0.06133	T	0.132	0.35948	.	.	0.0666544352282	0.05500	0.07754013685048124	0.07690	0.219639232792	0.24509	.	.	.	0.023705	0.18049	T	-0.51805	0.00452	T	-0.477443	0.24720	T	0.0211061283792609	0.00812	T	0.0876912	0.00645	T	0.21158327	0.43487	0.15816456	0.36949	0.21158327	0.43487	0.15816456	0.36948	-5.795	0.44531	T	.	.	0.116	0.29941	B	.;.;.	.;.;.	1.720096	0.21901	15.40	0.89170354378843952	0.18569	0.04472	0.10083	N	AEFDBHCI	0.083446	0.16906	N	-0.760345592036767	0.14354	0.7143117	-0.954378156450478	0.10821	0.5475359	0.999998763347558	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-0.211	0.12525	-0.587000	0.05874	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:0.4554:0.0:0.5446	6.759	0.22717	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	0.006445	0.000000	0.009511	0.000000	0.000000	0.017544	0.012346	0.000000	0.02632	101.33	75	chr6	31356242	.	C	T	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1877;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.25;MQRankSum=-2.988;QD=1.56;ReadPosRankSum=-2.535;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,7:65:99:0|1:31356242_C_T:115,0,2394:31356242	18	0	1	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|1:0,124:124:99:1|1:31356747_GCC_G:5539,373,0:31356747	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	0|1:79,85:164:99:0|1:31356809_C_T:3331,0,3061:31356809	3	7	9	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	0/1:0,31:72:99:.:.:2965,1738,1627:.	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|1:66,31:97:99:0|1:31625601_T_C:502,0,2061:31625601	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	0/1:62,29:94:99:.:.:689,0,1577:.	1	0	16	2
chr6	31707506	31707506	C	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon2:c.C101A:p.P34Q,LY6G6F-LY6G6D:NM_001353334:exon2:c.C101A:p.P34Q	.	428	1079	15	0	0	15	0.0069029	.	.	.	717901	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.139	.	0.0114	0.014976	0.0051	0.0337	0.0032	0.0130	0	0.0013	0.0034	0.0018	0.0048124	744	154602	rs17200983	0.0030	0.0030	0.0031	0.0028	0.0434	0.0029	0.0029	0.0417	0.0410	0.0314	0.0042	0.0022	0.0434	7.488e-05	0.0095	0.0008	0.0031	0.0018	0.0091	0.0091	0.0092	0.0089	0.0272	0.0087	0.0085	0.0259	0.0253	0.0272	0	0.0042	0.0035	0.0129	9.414e-05	0.0102	0.0011	0.0104	0.0015	0.003	0.68238	D	0.009	0.72224	D	0.986	0.61523	D	0.875	0.62107	P	0.043055	0.23778	N	0.363277	0.94103	0.26791	N	2.175	0.60977	M	-0.26	0.67187	T	-5.21	0.83763	D	0.532	0.57946	-0.5974	0.64923	T	0.324	0.69255	T	10	0.010085255	0.00226	T	.	.	.	0.139	0.37390	.	.	0.795768335752	0.79386	0.38738915591077727	0.38653	0.407922524592	0.55844	0.424749344587	0.28490	T	0.041518	0.25883	T	-0.390205	0.02682	T	-0.309594	0.43702	T	0.0325924273897184	0.02404	T	0.608539	0.22995	T	0.14380899	0.33037	0.30740565	0.56763	0.14380899	0.33037	0.30740565	0.56762	-9.268	0.69406	D	.	.	0.345	0.57744	A	.;.	.;.	4.300067	0.65647	24.9	0.97080384997531688	0.32277	0.92006	0.54737	D	AEFDBI	0.327293	0.42830	N	0.561753839837308	0.70801	5.555142	0.519090771132242	0.69274	5.337248	0.999999992297255	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	3.599000	0.53795	.	.	0.529000	0.24592	0.806000	0.29799	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	13.738	0.62314	895	0.25842	Immunoglobulin V-set domain|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	0	0	1	0	0.013072	0.010101	0.023098	0.010638	0.000000	0.000000	0.012195	0.000000	0.02632	1832.33	33	chr6	31707506	.	C	A	1832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=764;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.569;SOR=0.709	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1846,0,1732	18	0	1	0
chr6	31761521	31761521	G	A	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon22:c.G2087A:p.R696H,MSH5:NM_025259:exon22:c.G2141A:p.R714H,MSH5:NM_172165:exon22:c.G2090A:p.R697H,MSH5:NM_172166:exon22:c.G2087A:p.R696H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0586221396056	.	0.000199681	9.949e-05	0	0	0	0.0008	0.0001	0	0	8.41e-05	13	154602	rs200755245	7.048e-05	7.046e-05	6.536e-05	7.565e-05	5.306e-05	5.915e-05	5.524e-05	4.178e-05	3.825e-05	0	0	0.0002	0	0.0006	0	5.306e-05	8.282e-05	1.159e-05	2.625e-05	2.624e-05	2.569e-05	2.684e-05	2.94e-05	8.13e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	9.411e-05	0	2.94e-05	0	0	0.09	0.32929	T	0.572	0.32040	T	0.786	0.44460	P	0.647	0.52336	P	0.016059	0.28081	N	0.368409	.	.	.	1.52	0.38360	L	-2.0	0.85393	D	-2.26	0.62518	N	0.104	0.24135	-0.7139	0.59761	T	0.268	0.63982	T	9	0.065391004	0.08816	T	0.058622	0.67383	D	0.277	0.59375	.	.	0.76278811044	0.76062	0.3118363445857649	0.31096	0.894236471317	0.70360	.	.	.	0.315205	0.68683	T	-0.139859	0.29914	T	-0.241031	0.50699	T	0.240997210144997	0.22465	T	.	.	.	0.03007015	0.02607	0.04784289	0.06980	0.03007015	0.02606	0.04784289	0.06980	-7.798	0.59685	D	.	.	0.081	0.14201	B	.;.;.;.;.;.	.;.;.;.;.;.	3.716047	0.53073	23.3	0.9977357152355617	0.86088	0.03365	0.08460	N	AEFBI	0.062011	0.11895	N	-0.694003259239854	0.16191	0.8227375	-0.680688572270537	0.17444	0.9275753	0.820058255707657	0.24507	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.674467	0.66132	0	.	.	5.4	2.85	0.32333	1.332000	0.33410	.	.	-0.124000	0.13482	0.350000	0.25759	0.893000	0.27858	0.651000	0.32720	0.1498:0.0:0.144:0.7062	7.020	0.24085	895	0.25842	DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;.;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2167.33	33	chr6	31761521	.	G	A	2167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.975;DP=785;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.984;SOR=0.898	GT:AD:DP:GQ:PL	0/1:60,83:143:99:2181,0,1424	18	0	1	0
chr6	32061472	32061472	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon21:c.C7417T:p.R2473C,TNXB:NM_019105:exon21:c.C7417T:p.R2473C	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	421586	not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|Vesicoureteral_reflux_8|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.347	.	.	0.00379393	0.0031	0.0001	8.651e-05	0.0008	0	0.0001	0.0057	0.0207	0.0011526	30	26028	rs373029180	0.0013	0.0013	0.0007	0.0019	0.0198	0.0013	0.0012	0.0190	0.0187	8.966e-05	0	3.827e-05	0.0004	0	0.0012	7.915e-05	0.0014	0.0198	0.0007	0.0007	0.0003	0.0011	0.0174	0.0006	0.0006	0.0144	0.0133	0.0001	0	6.539e-05	0	0.0023	0	0	5.884e-05	0.0005	0.0174	0.036	0.43393	D	0.001	0.83351	D	.	.	.	.	.	.	0.274653	0.15060	N	0.626671	0.974796	0.25471	N	.	.	.	0.3	0.58755	T	-3.51	0.68298	D	0.453	0.49055	-0.7488	0.57998	T	0.273	0.64432	T	10	0.008589447	0.00195	T	.	.	.	0.347	0.66863	.	.	0.326837869879	0.32287	.	.	.	.	0.328807473183	0.14754	T	0.235474	0.60273	T	-0.375418	0.03329	T	-0.299714	0.44755	T	0.0938016627241007	0.11661	T	0.107389	0.12912	T	0.32205868	0.54813	0.30776522	0.56797	0.16461867	0.36680	0.13452816	0.32233	-8.578	0.64944	D	0.12405502670006753	0.12113	0.147	0.36234	B	.;.;.;.	.;.;.;.	3.770412	0.54150	23.5	0.99887879052742701	0.96281	0.35984	0.25428	N	AEFBI	0.277952	0.39235	N	0.197062443366264	0.51058	3.290189	0.0162939181947415	0.40470	2.415804	0.928051268315595	0.26913	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.28	4.28	0.50183	1.643000	0.36833	.	.	-0.168000	0.11412	0.007000	0.17678	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	13.748	0.62369	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003813	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2953.33	101	chr6	32061472	.	G	A	2953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=2217;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.54;MQRankSum=-5.6;QD=16.05;ReadPosRankSum=0.245;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,79:184:99:0|1:32061472_G_A:2967,0,4059:32061472	18	0	1	0
chr6	32121073	32121073	A	G	exonic	ATF6B	.	nonsynonymous SNV	ATF6B:NM_001136153:exon7:c.T607C:p.S203P,ATF6B:NM_004381:exon7:c.T616C:p.S206P	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00444337634	0.0022	0.00159744	0.0015	0.0046	0.0014	0.0002	0	0.0012	0.0038	0.0017	0.0013648	211	154602	rs140584533	0.0011	0.0011	0.0010	0.0011	0.0115	0.0010	0.0010	0.0093	0.0084	0.0066	0.0020	0.0022	5.067e-05	7.837e-05	0.0115	0.0008	0.0016	0.0017	0.0022	0.0022	0.0024	0.0021	0.0050	0.0020	0.0020	0.0044	0.0042	0.0050	0	0.0022	0.0026	0	9.406e-05	0.0136	0.0011	0.0033	0.0014	0.548	0.06627	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.885303	0.08726	N	0.929566	0.999999	0.08975	N	-1.87	0.00254	N	0.6	0.53731	T	0.07	0.06138	N	0.045	0.01740	-0.9690	0.37407	T	0.019	0.07893	T	10	0.003584236	0.00065	T	0.004443	0.10875	T	0.041	0.10877	.	.	0.328222422547	0.32431	0.19318305976576627	0.19236	0.578000481704	0.53709	0.279920548201	0.07481	T	0.225287	0.58997	T	-0.618675	0.00112	T	-0.659679	0.08288	T	0.00125377839550221	0.00012	T	0.542646	0.18460	T	0.050082102	0.08992	0.12426625	0.29954	0.050082102	0.08991	0.12426625	0.29953	-2.228	0.04204	T	.	.	0.049	0.00168	B	.;.;.	.;.;.	1.117100	0.15028	11.53	0.097082401427618592	0.00105	0.02028	0.06083	N	AEFBI	0.037723	0.05230	N	-1.02361252581102	0.08115	0.3794002	-0.855651376837283	0.13152	0.6807117	0.929938969897457	0.26987	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	3.11	0.34883	0.931000	0.28471	.	.	-0.137000	0.12594	0.851000	0.30461	1.000000	0.68203	0.166000	0.20848	0.2174:0.0:0.7826:0.0	7.034	0.24164	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010349	0.010101	0.014946	0.015957	0.000000	0.000000	0.012195	0.000000	0.02632	1526.33	40	chr6	32121073	.	A	G	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.43;DP=764;ExcessHet=0;FS=2.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.735;SOR=0.669	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1540,0,1339	18	0	1	0
chr6	32394987	32394987	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon6:c.G1117A:p.E373K	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00288147289926	.	.	3.395e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs770688339	1.371e-05	1.368e-05	8.18e-06	1.93e-05	0.0002	8.95e-06	7.28e-06	8.935e-05	7.091e-05	0	0	0	0	0	0	5.404e-06	1.659e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.17761	T	1.0	0.05958	T	0.0	0.02946	B	0.001	0.04355	B	0.748600	0.09718	N	0.865215	1	0.08975	N	-0.785	0.01646	N	3.79	0.03836	T	-0.37	0.49519	N	0.141	0.14054	-0.9198	0.45581	T	0.001	0.00467	T	10	0.03578961	0.01845	T	0.002881	0.06074	T	0.054	0.15330	0.495	0.58363	0.0551355673512	0.04727	0.3495288226787345	0.34866	0.406478129332	0.41524	0.433173656464	0.29642	T	0.011879	0.10530	T	-0.534278	0.00362	T	-0.768561	0.02815	T	0.0414555472578881	0.03954	T	.	.	.	0.036590304	0.04531	0.039003424	0.03894	0.036590304	0.04531	0.039003424	0.03894	-4.378	0.29257	T	.	.	0.055	0.01645	B	.;.;.	.;.;.	-0.574133	0.01643	0.115	0.64305507731036582	0.07457	0.00143	0.00871	N	AEFDBI	0.021979	0.01043	N	-1.7573819320096	0.00658	0.02838672	-1.68947197048924	0.01184	0.05331171	0.996662769246656	0.34909	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	5.08	-0.244	0.12388	0.055000	0.14112	.	.	-2.030000	0.00430	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2617:0.1625:0.5758	4.394	0.10785	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	.	.	.	.	.	.	.	.	0.02632	683.33	38	chr6	32394987	.	C	T	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.643;DP=840;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=-1.286;SOR=1.093	GT:AD:DP:GQ:PL	0/1:60,28:88:99:697,0,1714	18	0	1	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32786.2	10	chr6	32521977	.	TG	*	32786.2	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.51;DP=3685;ExcessHet=1.4183;FS=10.834;InbreedingCoeff=0.0148;MLEAC=2;MLEAF=0.056;MQ=51.82;MQRankSum=-5.073;QD=12.93;ReadPosRankSum=-1.121;SOR=0.95	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,60:125:99:.:.:4228,1596,1371:.	16	0	2	1
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	1|0:0,87:128:99:0|1:32521930_A_C:5306,1685,1460:32521930	5	0	11	3
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:125:99:0|1:32521981_T_TGC:5180,3675,3584:32521981	11	1	4	3
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|0:0,15:176:72:0|1:32530184_T_*:7441,6754,6757:32530184	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|0:0,15:175:75:0|1:32530184_T_*:7325,6703,6715:32530184	2	5	11	1
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	1326.15	152	chr6	32580272	.	T	C	1326.15	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.61;DP=2847;ExcessHet=0;FS=0;InbreedingCoeff=0.4412;MLEAC=2;MLEAF=0.067;MQ=39.59;MQRankSum=1.05;QD=29.62;ReadPosRankSum=0.616;SOR=2.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,31:32:51:1|1:32580272_T_C:1350,51,0:32580272	14	1	0	4
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	8002.54	429	chr6	32581836	.	G	A	8002.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.25;DP=7428;ExcessHet=0.3672;FS=0.727;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.22;MQRankSum=-8.749;QD=4.85;ReadPosRankSum=4.98;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:684,135:819:99:.:.:3605,0,28315:.	17	0	2	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	12357.7	355	chr6	32584158	.	G	T	12357.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.809;DP=3470;ExcessHet=0.7564;FS=6.487;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=53.18;MQRankSum=7.66;QD=11.69;ReadPosRankSum=-0.133;SOR=1.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,132:360:99:0|1:32584158_G_T:4856,0,9176:32584158	16	0	3	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,163:441:99:0|1:32584151_G_A:5992,0,10947:32584151	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,163:441:99:0|1:32584151_G_A:5992,0,10947:32584151	3	2	14	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3227.01	536	chr6	32584318	.	C	*	3227.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.95;DP=7153;ExcessHet=1.3;FS=1.244;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=54.18;MQRankSum=-3.443;QD=1.74;ReadPosRankSum=0.027;SOR=0.792	GT:AD:DP:GQ:PL	0/1:109,115:264:99:4501,0,4231	15	0	4	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:317,84:401:99:2553,0,13017	14	0	5	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	18488.6	155	chr6	32641522	.	A	G	18488.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=5;MLEAF=0.132;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,170:170:99:.:.:5330,510,0:.	15	1	3	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	62620.1	118	chr6	32666525	.	A	*	62620.1	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.825;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=30.4;ReadPosRankSum=-0.601;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:32666522_A_ACC:4455,298,0:32666522	15	1	3	0
chr6	33670774	33670774	G	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon20:c.G2545A:p.V849M	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.013839570421	0.0002	0.000399361	0.0001	0.0003	0.0002	0	0	6.002e-05	0	0.0003	0.0001035	16	154602	rs200072171	5.746e-05	5.951e-05	5.173e-05	6.326e-05	0.0004	4.743e-05	4.366e-05	0.0002	0.0002	0.0004	0.0001	0	0	0	0.0003	4.496e-05	3.312e-05	0.0001	0.0001	0.0001	5.139e-05	0.0002	0.0003	7.572e-05	6.277e-05	0.0002	0.0001	0.0003	0	6.532e-05	0	0	0	0.0034	4.41e-05	0	0	0.319	0.13610	T	0.267	0.22561	T	0.028	0.19712	B	0.015	0.17295	B	0.001947	0.37596	N	0.230399	0.526981	0.31522	N	-0.895	0.01383	N	-2.88	0.91533	D	0.42	0.03352	N	0.489	0.56919	-0.6718	0.61747	T	0.325	0.69376	T	10	0.06258282	0.08023	T	0.01384	0.33543	T	0.253	0.56294	.	.	0.832394750067	0.83080	0.40643106758595116	0.40559	0.41441442246	0.42123	0.653662264347	0.60506	T	0.26345	0.63513	T	-0.173132	0.24763	T	-0.170313	0.57413	T	0.0257119029815131	0.01367	T	0.874113	0.58433	D	0.10194139	0.24085	0.05632283	0.10042	0.10194139	0.24084	0.05632283	0.10041	-3.826	0.21193	T	.	.	0.127	0.27403	B	.;.	.;.	3.918868	0.57202	23.8	0.97696505905201059	0.35406	0.82982	0.42141	D	AEFGBI	0.118269	0.23134	N	-0.35016891348764	0.27265	1.494564	-0.134903765191909	0.33994	1.950555	0.999921747174809	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	1.573000	0.36081	5.162000	0.47795	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8349:0.1651	12.680	0.56284	511	0.75131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1956.33	34	chr6	33670774	.	G	A	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=877;ExcessHet=0;FS=3.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.25;SOR=0.813	GT:AD:DP:GQ:PL	0/1:87,85:172:99:1970,0,1926	18	0	1	0
chr6	33689248	33689248	C	G	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon50:c.C6705G:p.D2235E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0388001866378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.284	0.32165	B	0.315	0.41566	B	0.020761	0.26970	N	0.409832	0.660212	0.33045	D	1.79	0.46772	L	-2.94	0.91851	D	-0.13	0.08971	N	0.321	0.36779	-0.5299	0.67545	T	0.439	0.77796	T	10	0.16395119	0.30685	T	0.039	0.58435	D	0.206	0.49396	0.295	0.25881	0.784046768011	0.78204	0.5879224915502999	0.58722	0.77231500373	0.64831	0.420532405376	0.27909	T	0.254985	0.62572	T	-0.0955059	0.37167	T	-0.374964	0.36310	T	0.253946721553802	0.23049	T	0.691131	0.30052	T	0.026004007	0.01604	0.035612036	0.02847	0.026004007	0.01604	0.035612036	0.02846	-3.192	0.12383	T	.	.	0.149	0.33435	B	.;.	.;.	2.499035	0.32255	18.99	0.56063136389726453	0.05473	0.92282	0.55354	D	AEFBI	0.317708	0.42162	N	-0.53890461324152	0.20833	1.101212	-0.387920611399438	0.25355	1.393923	0.997972987482925	0.36262	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.55	0.39770	0.282000	0.18587	1.116000	0.24201	-0.197000	0.09056	0.978000	0.35038	1.000000	0.68203	0.961000	0.51904	0.0:0.7068:0.0:0.2932	8.277	0.31041	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	68.97	35	chr6	33689248	.	C	G	68.97	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.413;DP=1738;ExcessHet=0.119;FS=154.562;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.75;SOR=10.048	GT:AD:DP:GQ:PL	0/1:130,31:166:75:75,0,2644	17	0	2	0
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	0/1:57,13:70:30:.:.:30,0,1819:.	3	0	11	5
chr6	43516807	43516807	T	C	exonic	YIPF3	.	startloss	YIPF3:NM_015388:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.219	0.30243	B	0.14	0.33554	B	0.001678	0.38326	N	0.225377	1	0.81001	D	.	.	.	0.98	0.42502	T	-0.24	0.11185	N	0.707	0.78737	-0.8923	0.48731	T	0.107	0.38979	T	9	0.96412694	0.95864	D	0.517431	0.95395	D	0.311	0.63269	0.992	0.99914	0.628481164996	0.62545	0.39302415304488725	0.39217	.	.	.	.	.	0.036028	0.23947	T	0.249376	0.78544	D	0.120435	0.78265	D	0.997687101364136	0.92162	D	0.9	0.65058	D	0.9315904	0.94396	0.8803172	0.93584	0.9315904	0.94397	0.8803172	0.93584	-8.819	0.66525	D	.	.	.	.	.	.;.;.	.;.;.	3.712626	0.53010	23.3	0.98728699080096649	0.45318	0.21553	0.21442	N	AEFGBHCIJ	0.039999	0.05887	N	0.0232614513703857	0.42914	2.594763	0.130618296872723	0.46123	2.863502	0.999999999999977	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.06	5.06	0.67838	2.579000	0.45725	7.852000	0.71012	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.194	0.47932	217	0.91564	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	54.33	34	chr6	43516807	.	T	C	54.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.007;DP=710;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.554;SOR=1.105	GT:AD:DP:GQ:PL	0/1:63,10:73:68:68,0,1772	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	0/1:81,28:109:29:29,0,1413	8	0	8	3
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07895	4958.79	68	chr6	46168058	.	T	C	4958.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.61;DP=1446;ExcessHet=0.3672;FS=1.711;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.72;SOR=0.805	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1577,0,1483	16	0	3	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	0/1:88,84:172:99:2122,0,2298	16	0	3	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	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	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,19:176:99:0|1:52403967_A_G:128,0,6395:52403967	5	0	6	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	1704.79	284	chr6	52403969	.	C	G	1704.79	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-6.531;DP=2551;ExcessHet=1.3;FS=133.981;InbreedingCoeff=-0.1889;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=2.81;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,19:178:99:0|1:52403967_A_G:123,0,6418:52403967	14	0	3	2
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	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	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	1871.38	277	chr6	52403970	.	C	G	1871.38	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,18:178:99:0|1:52403967_A_G:113,0,6456:52403967	13	0	4	2
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	0/1:29,16:45:52:52,0,336	13	0	4	2
chr6	87260932	87260932	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I	.	427	1012	79	4	0	87	0.0412127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00499201	0.0100	0.0022	0.0049	0.0001	0.0017	0.0104	0.0121	0.0245	0.0084087	1300	154602	rs61744959	0.0096	0.0096	0.0091	0.0100	0.0230	0.0094	0.0094	0.0222	0.0218	0.0019	0.0041	0.0017	0	0.0015	0.0193	0.0099	0.0093	0.0230	0.0063	0.0063	0.0065	0.0061	0.0201	0.0060	0.0058	0.0169	0.0157	0.0016	0	0.0041	0.0012	0	0.0009	0.0068	0.0103	0.0057	0.0201	0.406	0.10278	T	0.396	0.15206	T	0.006	0.13644	B	0.009	0.14300	B	0.461370	0.12387	N	0.768728	0.999999	0.08975	N	1.735	0.44892	L	3.34	0.06063	T	-0.22	0.10480	N	0.053	0.02462	-0.9008	0.47910	T	0.004	0.01400	T	10	0.0027675629	0.00043	T	.	.	.	0.033	0.08068	.	.	0.216943180021	0.21308	0.05458345058221593	0.05400	.	.	0.256128549576	0.04441	T	0.031842	0.22223	T	-0.710375	0.00032	T	-0.775596	0.02589	T	0.000202353479089497	0.00001	T	0.667533	0.27667	T	0.03097521	0.02854	0.028164731	0.01028	0.03119373	0.02914	0.028164731	0.01028	-3.79	0.20655	T	0.4322768024131565	0.51920	0.072	0.04198	B	.;.	.;.	0.563888	0.09324	6.105	0.75564123995781296	0.11124	0.51125	0.28823	D	AEFBCI	.	.	.	-0.591901078762334	0.19188	1.002366	-0.479853640002633	0.22708	1.234817	0.969723715095948	0.29151	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.52	2.71	0.31092	0.799000	0.26688	0.955000	0.22950	0.618000	0.50648	0.128000	0.23311	0.915000	0.28207	0.944000	0.48669	0.0713:0.1142:0.6677:0.1467	6.622	0.22002	824	0.40336	.;.	.	.	.	.	rs61744959	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	0.018630	0.000000	0.017663	0.011696	0.000000	0.000000	0.030488	0.030303	0.02632	1449.33	40	chr6	87260932	.	G	A	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=821;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.684;SOR=0.692	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1463,0,1253	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	0/1:35,23:58:65:.:.:65,0,508:.	6	0	9	4
chr6	89695954	89695954	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon61:c.G9422A:p.R3141Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2675247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0149761768461	.	.	4.314e-05	0	8.709e-05	0.0001	0	4.72e-05	0	0	3.23e-05	5	154602	rs754468370	8.706e-05	8.687e-05	9.546e-05	7.857e-05	0.0002	7.436e-05	6.984e-05	8.594e-05	8.072e-05	0	0	0	0.0001	0	0.0002	0.0001	6.639e-05	4.643e-05	4.601e-05	4.597e-05	5.141e-05	4.036e-05	8.82e-05	2.11e-05	1.527e-05	3.762e-05	2.575e-05	2.414e-05	0	0	0	0	0	0	8.82e-05	0	0	0.036	0.43393	D	.	.	.	0.223	0.30377	B	0.014	0.16862	B	0.001423	0.39044	N	0.159814	0.97432	0.25498	N	2.43	0.70455	M	4.01	0.03208	T	-1.98	0.45769	N	0.384	0.42541	-0.9246	0.44915	T	0.004	0.01295	T	10	0.14272198	0.27105	T	0.014976	0.35442	T	0.045	0.12272	.	.	0.338947837391	0.33504	0.31688004104208944	0.31601	0.227066095518	0.25258	0.244251012802	0.03186	T	0.01745	0.14237	T	-0.356661	0.04322	T	-0.485667	0.23846	T	0.100121345368674	0.12371	T	0.592841	0.21881	T	0.106943786	0.25287	0.082354106	0.18789	0.106943786	0.25287	0.082354106	0.18788	-2.731	0.07567	T	.	.	0.091	0.13268	B	.;.	.;.	2.774030	0.36418	20.2	0.99735387581618618	0.83119	0.72980	0.35706	D	AEFBI	0.130543	0.24913	N	-0.277113697224131	0.30034	1.670986	-0.185392697172084	0.32072	1.821109	0.927476741901194	0.26890	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	2.993000	0.49114	2.733000	0.34404	0.599000	0.40250	0.111000	0.23011	0.976000	0.30059	0.264000	0.23619	0.0:0.9199:0.0:0.0801	11.931	0.52131	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1196.33	45	chr6	89695954	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.782;SOR=0.698	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1210,0,824	18	0	1	0
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	0/1:81,73:154:99:2089,0,2059	17	0	2	0
chr6	89895498	89895498	G	A	exonic	GJA10	.	nonsynonymous SNV	GJA10:NM_032602:exon1:c.G1030A:p.A344T	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0357630933945	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs146279798	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.299	0.14546	T	0.7	0.05727	T	0.001	0.07471	B	0.005	0.11217	B	0.894470	0.08664	N	0.949495	1	0.08975	N	0.425	0.12573	N	-4.5	0.97650	D	-0.56	0.17003	N	0.012	0.00125	-0.1905	0.77915	T	0.614	0.86367	D	10	0.0659962	0.08986	T	0.035763	0.56560	D	0.181	0.45247	.	.	0.728184078372	0.72577	0.045983232994362994	0.04542	0.0354639617203	0.03741	0.260590314865	0.04961	T	0.122291	0.44586	T	-0.107686	0.35150	T	-0.39246	0.34263	T	0.0422316342592239	0.04097	T	0.349165	0.07749	T	0.03142957	0.02981	0.04213541	0.04949	0.03142957	0.02980	0.04213541	0.04948	-3.55	0.17139	T	.	.	0.067	0.02960	B	.;.	.;.	-0.099320	0.03644	0.727	0.60904447019342423	0.06577	0.02585	0.07140	N	ALL	0.050275	0.08772	N	-1.2008806023086	0.04988	0.2263507	-1.20027848446662	0.05906	0.2827481	0.999895316093514	0.45129	0.520426	0.21595	0	0.563428	0.19063	0	0.440796	0.06475	0	0.825845	0.99933	0	.	.	5.08	1.34	0.21018	0.167000	0.16419	0.262000	0.16556	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.227:0.0:0.6352:0.1378	5.677	0.17028	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2126.33	33	chr6	89895498	.	G	A	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.642;DP=839;ExcessHet=0;FS=2.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-3.298;SOR=0.518	GT:AD:DP:GQ:PL	0/1:113,84:197:99:2140,0,3165	18	0	1	0
chr6	105278158	105278158	C	T	exonic	PREP	.	nonsynonymous SNV	PREP:NM_002726:exon15:c.G2119A:p.D707N	.	431	1088	3	0	0	3	0.00137678	.	.	.	2756706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00628331849249	.	0.000199681	8.39e-05	9.711e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs554298353	7.343e-05	7.388e-05	7.773e-05	6.907e-05	8.976e-05	6.201e-05	5.76e-05	7.157e-05	6.647e-05	8.976e-05	4.48e-05	0	0	0	0	8.57e-05	9.976e-05	1.162e-05	7.223e-05	7.217e-05	5.139e-05	9.403e-05	0.0001	3.969e-05	3.126e-05	4.766e-05	3.339e-05	9.621e-05	0	0	0	0	0	0	0.0001	0	0	0.257	0.16738	T	0.47	0.12246	T	0.001	0.07471	B	0.004	0.10090	B	0.014153	0.28619	N	0.457587	0.72544	0.33662	D	0.055	0.08163	N	1.55	0.29866	T	-0.07	0.08033	N	0.196	0.21580	-1.0110	0.26604	T	0.015	0.05897	T	10	0.12900534	0.24544	T	0.006283	0.16493	T	0.049	0.13647	0.526	0.63115	0.082315109003	0.07666	.	.	0.452032423143	0.44933	0.347523033619	0.17557	T	0.138805	0.47249	T	-0.450799	0.01117	T	-0.64865	0.09048	T	0.0552132874727249	0.06393	T	0.90371	0.66210	D	0.15983026	0.35883	0.07907844	0.17769	0.15983026	0.35882	0.07907844	0.17769	-4.127	0.25687	T	.	.	.	.	.	.	.	3.139030	0.42451	21.5	0.99069307381346206	0.51692	0.93870	0.59429	D	AEFBI	0.264860	0.38211	N	-0.353324660416733	0.27150	1.487303	-0.117148576917088	0.34697	1.998908	0.107839776909109	0.16566	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	2.321000	0.43465	5.956000	0.51737	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.944000	0.48669	0.0:0.7965:0.1336:0.0698	10.468	0.43806	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	1257.33	34	chr6	105278158	.	C	T	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=726;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.05;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,49:98:99:0|1:105278158_C_T:1271,0,1216:105278158	18	0	1	0
chr6	116792887	116792887	G	A	exonic	GPRC6A	.	nonsynonymous SNV	GPRC6A:NM_001286355:exon5:c.C1823T:p.T608M,GPRC6A:NM_001286354:exon6:c.C1511T:p.T504M,GPRC6A:NM_148963:exon6:c.C2036T:p.T679M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2820655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.305	0.0135923453162	0.0012	0.000798722	0.0011	9.619e-05	0.0006	0.0002	0.0006	0.0018	0.0011	6.057e-05	0.0011513	178	154602	rs118009892	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0004	0.0010	3.827e-05	7.558e-05	0.0004	0.0002	0.0020	0.0012	0.0002	0.0012	0.0012	0.0013	0.0011	0.0022	0.0011	0.0010	0.0019	0.0018	0.0004	0	0.0005	0	0	0.0006	0	0.0022	0.0005	0	0.248	0.32453	T	0.308	0.19908	T	0.06	0.35138	B	0.021	0.30104	B	0.840866	0.09035	N	0.924252	0.999986	0.18198	N	1.6	0.40776	L	-2.39	0.88377	D	0.0	0.11547	N	0.124	0.14054	-0.6972	0.60572	T	0.312	0.68220	T	10	0.017200917	0.00366	T	0.013592	0.33109	T	0.305	0.62620	.	.	0.635842297619	0.63285	0.3668118840612202	0.36595	0.0440490187585	0.04745	0.263675510883	0.05336	T	0.350495	0.71820	T	-0.4202	0.01705	T	-0.375412	0.36257	T	0.00939151718004375	0.00120	T	0.619338	0.28733	T	0.019976147	0.00541	0.04959133	0.07611	0.019976147	0.00541	0.04959133	0.07610	-4.305	0.33754	T	.	.	0.059	0.02091	B	.;.;.	.;.;.	0.796169	0.11666	8.250	0.83494810791227836	0.14757	0.04258	0.09789	N	AEFBI	0.040085	0.05913	N	-1.08760237399774	0.06871	0.3175302	-1.19245132845794	0.06035	0.2893034	0.104645874122598	0.16481	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	-7.89	0.01040	1.064000	0.30189	2.301000	0.32018	-0.292000	0.06281	0.301000	0.25333	0.924000	0.28388	0.866000	0.41154	0.3627:0.0:0.5392:0.0981	10.822	0.45814	501	0.75956	GPCR family 3, C-terminal|GPCR family 3, 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	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2049.33	118	chr6	116792887	.	G	A	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=2331;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.714;SOR=0.596	GT:AD:DP:GQ:PL	0/1:77,79:156:99:2063,0,1845	18	0	1	0
chr6	122783744	122783744	G	A	exonic	FABP7	.	nonsynonymous SNV	FABP7:NM_001319042:exon4:c.G364A:p.V122I,FABP7:NM_001446:exon4:c.G376A:p.V126I	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0154215191171	.	0.000399361	9.062e-05	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs77153426	6.322e-05	6.362e-05	5.195e-05	7.461e-05	0.0005	5.252e-05	4.868e-05	0.0001	8.819e-05	0	2.328e-05	0	0	0	0.0005	6.396e-05	3.324e-05	0.0002	7.223e-05	7.875e-05	5.141e-05	9.4e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.062	0.36912	T	0.189	0.28575	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	0.999971	0.53665	D	1.57	0.39626	L	3.06	0.08634	T	-0.62	0.18248	N	0.175	0.18784	-1.0414	0.16890	T	0.011	0.03903	T	9	0.14036414	0.26682	T	0.015422	0.36141	T	0.103	0.29403	0.549	0.66436	0.392855499163	0.38900	.	.	0.16724287449	0.18862	0.270776748657	0.06243	T	0.086488	0.37736	T	-0.382068	0.03024	T	-0.522163	0.20075	T	0.0692095382658023	0.08541	T	0.818818	0.47619	T	0.2120358	0.43545	0.23689161	0.48972	0.2120358	0.43544	0.23689161	0.48971	-4.523	0.31188	T	.	.	0.079	0.07177	B	.	.	2.278303	0.29126	18.02	0.98705368100683655	0.44967	0.91819	0.54331	D	AEFDBCI	0.704641	0.66029	D	-0.0996626492339732	0.37407	2.17588	0.0556642698724249	0.42346	2.559725	0.999991937297232	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.4	3.59	0.40253	4.543000	0.60395	2.841000	0.35080	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.143:0.0:0.857:0.0	11.852	0.51693	539	0.73055	Lipocalin/cytosolic fatty-acid binding domain|Cytosolic fatty-acid binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	786.33	33	chr6	122783744	.	G	A	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=704;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.35;SOR=0.889	GT:AD:DP:GQ:PL	0/1:35,34:69:99:800,0,909	18	0	1	0
chr6	131733598	131733598	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon21:c.C1964T:p.S655L	.	.	.	.	.	.	.	.	.	.	.	2351114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0378497273283	.	0.000199681	0.0002	0.0002	0	0.0009	0.0009	6.002e-05	0	0.0002	0.0001682	26	154602	rs200877330	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	2.988e-05	0	0	0.0007	0.0003	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0006	0.0004	2.406e-05	0	0.0002	0	0.0013	0.0002	0	0.0001	0	0.0008	0.145	0.25154	T	0.354	0.17268	T	0.026	0.19406	B	0.027	0.21085	B	0.092302	0.20281	N	0.459428	0.981583	0.81001	D	2.345	0.67358	M	-0.85	0.74371	T	-2.9	0.60827	D	0.301	0.34012	-0.7082	0.60041	T	0.209	0.56906	T	10	0.0413872	0.02790	T	0.03785	0.57866	D	0.160	0.41473	.	.	0.705039402834	0.70247	0.5478880700233967	0.54714	0.07061311208	0.07910	0.467587828636	0.34349	T	0.074363	0.34920	T	-0.387314	0.02800	T	-0.410909	0.32120	T	0.0457499533232505	0.04739	T	0.808019	0.45805	T	0.23522595	0.46355	0.14354712	0.34111	0.23522595	0.46355	0.14354712	0.34110	-4.188	0.26577	T	.	.	0.084	0.10835	B	.;.	.;.	3.178503	0.43136	21.7	0.99414205395434319	0.63453	0.85867	0.45050	D	ALL	0.462519	0.51183	N	-0.0860917098323761	0.38002	2.219189	0.0621876315976945	0.42665	2.58458	0.99999999764544	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.591603	0.36755	0	.	.	5.91	4.12	0.47504	1.775000	0.38213	0.109000	0.14755	0.549000	0.26987	1.000000	0.71638	0.504000	0.25220	0.995000	0.73285	0.0:0.8657:0.0:0.1343	12.685	0.56310	877	0.30165	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003067	0.000000	0.02632	1073.33	34	chr6	131733598	.	C	T	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.663;DP=724;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.962;SOR=0.538	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1087,0,1217	18	0	1	0
chr6	145955144	145955144	C	T	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon2:c.G179A:p.S60N,SHPRH:NM_001370327:exon2:c.G179A:p.S60N,SHPRH:NM_173082:exon2:c.G179A:p.S60N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0048	0.00439297	0.0019	0.0159	0.0020	0	0	0.0007	0	0.0002	0.0017917	277	154602	rs182151362	0.0008	0.0008	0.0009	0.0008	0.0126	0.0008	0.0008	0.0116	0.0112	0.0126	0.0020	0.0062	5.038e-05	0	0.0026	0.0004	0.0018	0.0002	0.0047	0.0047	0.0049	0.0045	0.0150	0.0044	0.0043	0.0141	0.0137	0.0150	0	0.0019	0.0058	0	0	0.0204	0.0004	0.0043	0.0002	0.073	0.37118	T	0.255	0.24334	T	0.22	0.33195	B	0.073	0.34351	B	0.006636	0.31903	N	0.291823	1	0.08975	N	1.79	0.46772	L	-0.09	0.64086	T	-0.52	0.16187	N	0.22	0.26475	-1.0238	0.22476	T	0.089	0.34298	T	10	0.0030740798	0.00051	T	.	.	.	0.033	0.08068	.	.	0.454426139905	0.45068	0.15760735492222078	0.15681	0.0797031402011	0.08973	0.272950291634	0.06528	T	0.014246	0.12164	T	-0.605931	0.00134	T	-0.63083	0.10351	T	0.00383369042983152	0.00041	T	0.633137	0.24745	T	0.04213333	0.06335	0.052692916	0.08732	0.04213333	0.06334	0.052692916	0.08731	-3.768	0.20327	T	.	.	0.067	0.05623	B	.;.;.;.	.;.;.;.	0.742372	0.11117	7.763	0.86529392320341492	0.16597	0.20109	0.20918	N	ALL	0.070680	0.14041	N	-0.811117788048058	0.13026	0.6388661	-0.867937097793996	0.12857	0.6637981	0.999999995120782	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.66	1.9	0.24770	0.211000	0.17268	0.085000	0.14440	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.252000	0.23314	0.0:0.6472:0.0:0.3528	8.816	0.34155	356	0.85138	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.004076	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1806.33	36	chr6	145955144	.	C	T	1806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=774;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-2.135;SOR=0.56	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1820,0,1821	18	0	1	0
chr6	146434425	146434425	C	G	exonic	GRM1	.	nonsynonymous SNV	GRM1:NM_001278064:exon8:c.C3214G:p.P1072A	Spinocerebellar ataxia, autosomal recessive 13, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	439262	Autosomal_recessive_spinocerebellar_ataxia_13|Spinocerebellar_ataxia_44|not_provided|not_specified	MONDO:MONDO:0013905,MedGen:C3553816,OMIM:614831,Orphanet:324262|MONDO:MONDO:0033479,MedGen:C4521563,OMIM:617691,Orphanet:631095|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0061	0.00559105	0.0026	0.0170	0.0031	0.0002	0	0.0016	0.0034	0.0003	0.0024838	384	154602	rs146753539	0.0016	0.0016	0.0016	0.0016	0.0167	0.0015	0.0015	0.0155	0.0151	0.0167	0.0028	0.0134	7.558e-05	1.881e-05	0.0094	0.0009	0.0036	0.0004	0.0060	0.0060	0.0063	0.0058	0.0169	0.0057	0.0056	0.0158	0.0154	0.0169	0	0.0042	0.0150	0.0002	0	0.0306	0.0012	0.0043	0.0010	0.08	0.33585	T	0.348	0.17585	T	0.008	0.14655	B	0.016	0.17743	B	0.001180	0.39978	N	0.283949	1	0.21346	N	0.345	0.11182	N	-2.3	0.87671	D	-0.66	0.19085	N	0.158	0.16447	-0.7274	0.59094	T	0.269	0.64013	T	10	0.004937917	0.00106	T	.	.	.	0.107	0.30369	.	.	0.255117706274	0.25116	0.3417290464690613	0.34085	0.695641741185	0.60820	0.337348997593	0.16041	T	0.153012	0.49367	T	-0.474173	0.00801	T	-0.439613	0.28852	T	0.00168929780387126	0.00017	T	0.681032	0.28992	T	0.05399477	0.10297	0.093030445	0.21955	0.057374626	0.11411	0.08657157	0.20065	-5.535	0.42194	T	.	.	0.062	0.01197	B	.;.	.;.	1.258482	0.16560	12.62	0.94088151190253688	0.24242	0.47564	0.28011	N	AEFDBIJ	0.206323	0.33260	N	-0.633384299388915	0.17948	0.9279037	-0.568155955736004	0.20325	1.094585	0.998466286669555	0.37014	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.71	2.87	0.32523	1.357000	0.33694	0.381000	0.17781	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.612000	0.31691	0.0:0.7456:0.1201:0.1343	9.181	0.36302	382	0.83637	.;.	.	.	.	.	.	Likely benign	0	0	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	0.013609	0.030612	0.020380	0.014620	0.000000	0.017241	0.000000	0.003788	0.02632	1740.33	141	chr6	146434425	.	C	G	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=1957;ExcessHet=0;FS=3.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.19;SOR=0.413	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1754,0,1966	18	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	683.79	147	chr6	152331115	.	C	G	683.79	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.897;DP=2493;ExcessHet=1.3;FS=258.908;InbreedingCoeff=-0.2283;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.44;SOR=12.09	GT:AD:DP:GQ:PL	0/1:108,43:158:80:80,0,2503	10	0	5	4
chr6	156779311	156779311	-	GGC	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_001374828:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_017519:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_001371656:exon2:c.1631_1632insGGC:p.A547_G548insA	Coffin-Siris syndrome 1, Autosomal dominant	34	1484	3	0	1	4	0.00100976	.	.	.	579257	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367431735	8.684e-05	6.569e-05	9.187e-05	8.121e-05	8.694e-05	7.196e-05	6.635e-05	7.101e-05	6.476e-05	0	0	0	0	0	0	8.694e-05	0.0003	0	5.581e-05	5.342e-05	8.17e-05	2.861e-05	9.259e-05	2.696e-05	1.931e-05	4.019e-05	2.678e-05	5.059e-05	0	0	0	0	0	0	9.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	298.3	21	chr6	156779311	.	G	GGGC	298.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=340;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=1.41;SOR=1.371	GT:AD:DP:GQ:PL	0/1:8,8:16:99:312,0,312	18	0	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A,PNLDC1:NM_173516:exon7:c.A467C:p.E156A	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.043103	0.015244	0.007576	0.05263	4469.83	45	chr6	159806021	.	A	C	4469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.784;DP=1012;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.37;SOR=0.752	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2162,0,2196	17	0	2	0
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	0/1:38,25:63:99:625,0,902	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|1:0,63:63:99:1|1:170561949_GCAA_G:2628,195,0:170561949	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|0:0,67:94:99:1|0:170561949_GCAA_G:4722,1075,738:170561949	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	0/1:56,34:92:99:.:.:2029,0,1745:.	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	0/1:19,12:31:32:.:.:32,0,292:.	2	0	16	1
chr7	1479552	1479552	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon31:c.G4207A:p.V1403M	.	396	1116	10	0	0	10	0.0044603	.	.	.	2828190	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.106	0.082874075844	0.0004	0.00159744	0.0025	0.0008	0.0020	0	0	0.0047	0	0.0012	0.0007697	119	154602	rs191952781	0.0008	0.0008	0.0007	0.0008	0.0082	0.0007	0.0007	0.0063	0.0057	0.0003	0.0012	0.0104	0	2.182e-05	0.0082	0.0005	0.0020	0.0012	0.0020	0.0020	0.0018	0.0021	0.0023	0.0018	0.0017	0.0013	0.0011	0.0002	0.1663	0.0018	0.0107	0	0	0.0170	0.0008	0.0038	0.0023	0.222	0.18823	T	0.124	0.35455	T	0.666	0.41077	P	0.082	0.29098	B	0.010786	0.29783	N	0.340767	1	0.08975	N	2.24	0.63355	M	-0.24	0.66834	T	-0.5	0.15782	N	0.157	0.16308	-0.7789	0.56364	T	0.202	0.55891	T	10	0.0047464967	0.00100	T	0.082874	0.73994	D	0.106	0.30130	.	.	0.524792858863	0.52124	0.22470879977089406	0.22385	.	.	0.48328179121	0.36508	T	0.105403	0.41585	T	-0.384247	0.02928	T	-0.375161	0.36287	T	0.0174562962045613	0.00482	T	0.839216	0.51320	T	0.0634407	0.13360	0.048106782	0.07077	0.0634407	0.13359	0.048106782	0.07076	-5.243	0.39376	T	.	.	0.114	0.22537	B	.	.	1.863536	0.23674	16.11	0.9119922908941871	0.20454	0.38083	0.25908	N	AEFDBCI	0.170408	0.29732	N	-0.185346868024771	0.33745	1.917935	-0.19531124587394	0.31709	1.797022	0.999995650684902	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	1.448000	0.34723	1.028000	0.23458	0.597000	0.34315	0.042000	0.21073	0.471000	0.25053	0.388000	0.26514	0.0:0.8551:0.1449:0.0	14.779	0.69375	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008763	0.015789	0.016575	0.000000	0.000000	0.000000	0.006369	0.000000	0.02632	704.33	34	chr7	1479552	.	C	T	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.558;SOR=0.707	GT:AD:DP:GQ:PL	0/1:29,27:56:99:718,0,765	18	0	1	0
chr7	6005892	6005892	C	A	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_000535:exon2:c.G163T:p.D55Y,PMS2:NM_001322006:exon2:c.G163T:p.D55Y,PMS2:NM_001322014:exon2:c.G163T:p.D55Y	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9999	0.862	YES	2418513	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.815	0.179809997361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000010	0.62929	D	0.108413	1	0.81001	D	2.515	0.73286	M	-3.62	0.95077	D	-6.61	0.92736	D	0.787	0.78356	1.032	0.97753	D	0.927	0.97601	D	9	0.90079296	0.89440	D	0.17981	0.85448	D	0.815	0.94046	0.528	0.63412	0.969388848168	0.96905	0.6702270069650863	0.66960	0.291387011894	0.31546	0.541040599346	0.44591	T	0.730023	0.92436	D	0.351326	0.86596	D	0.266879	0.86419	D	0.993021568491664	0.83672	D	0.958204	0.84269	D	0.9306465	0.94302	0.8824447	0.93733	0.9306465	0.94303	0.8824447	0.93734	-15.028	0.95917	D	.	.	0.406	0.59937	A	.;.	.;.	6.312368	0.94995	34	0.99565078583719346	0.72014	0.98452	0.82924	D	AEFBI	0.925734	0.90574	D	0.93565729710271	0.93394	12.01056	0.888345555249172	0.95045	13.26203	0.999999999999956	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.67	5.67	0.87673	7.542000	0.81035	7.710000	0.66754	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.759	0.96299	851	0.35303	DNA mismatch repair protein family, N-terminal|Histidine kinase/HSP90-like ATPase;.	.	.	.	.	.	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	618.33	40	chr7	6005892	.	C	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.737;SOR=0.675	GT:AD:DP:GQ:PL	0/1:46,27:73:99:632,0,1162	18	0	1	0
chr7	6799240	6799240	A	T	exonic	CCZ1B	.	nonsynonymous SNV	CCZ1B:NM_198097:exon15:c.T1433A:p.I478N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0431176736626	0.0015	0.00139776	0.0039	0.0009	0.0044	0.0003	0	0.0050	0.0028	0.0039	7.12e-05	11	154602	rs138854886	0.0022	0.0020	0.0021	0.0022	0.0023	0.0021	0.0021	0.0023	0.0022	0.0001	0.0022	0.0045	0	0.0001	0.0006	0.0023	0.0021	0.0021	0.0016	0.0017	0.0017	0.0015	0.0023	0.0014	0.0013	0.0020	0.0018	0.0008	0	0.0007	0.0031	0	0	0	0.0023	0.0018	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.049709	1	0.81001	D	2.56	0.74772	M	.	.	.	-4.98	0.82141	D	0.892	0.89131	-0.5242	0.67759	T	0.271	0.64308	T	6	0.040212005	0.02571	T	0.043118	0.60817	D	0.386	0.70276	.	.	0.504968073517	0.50134	0.71744288525426	0.71687	.	.	0.846720695496	0.89118	D	0.099741	0.40485	T	0.0429278	0.57428	T	0.129863	0.78884	D	0.0651106187352131	0.07947	T	0.959604	0.84807	D	0.53669614	0.69211	0.40755966	0.65098	0.53669614	0.69212	0.40755966	0.65098	-12.122	0.85440	D	.	.	0.994	0.94895	P	.	.	4.889102	0.80252	27.3	0.99250647728948282	0.56858	0.97692	0.76450	D	AEFI	0.847402	0.76425	D	0.157100059326893	0.49147	3.118542	0.143874804859153	0.46817	2.92168	0.0801521127751988	0.15838	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.49	3.49	0.39065	8.500000	0.90331	.	.	0.335000	0.19678	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	1.0:0.0:0.0:0.0	10.026	0.41245	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	0.000724	0.000000	0.000000	0.005376	0.000000	0.000000	0.000000	0.000000	0.03571	592.2	31	chr7	6799240	.	A	T	592.2	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.846;DP=428;ExcessHet=0;FS=2.268;InbreedingCoeff=0.0221;MLEAC=1;MLEAF=0.036;MQ=34.8;MQRankSum=-1.125;QD=10.77;ReadPosRankSum=0.505;SOR=0.55	GT:AD:DP:GQ:PL	0/1:28,27:55:99:603,0,604	13	0	1	5
chr7	21880850	21880850	T	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon75:c.T12344G:p.I4115S	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	457654	DNAH11-related_disorder|Primary_ciliary_dyskinesia	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.265	0.105412801443	8.4e-05	0.000798722	0.0007	0	0.0005	0	0	3.027e-05	0	0.0043	0.0005563	86	154602	rs371418299	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	0.0002	0	0	0	0.0007	5.667e-05	0.0003	0.0043	0.0002	0.0002	0.0002	0.0003	0.0043	0.0002	0.0001	0.0029	0.0024	0	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0043	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.044911	0.999999	0.58761	D	.	.	.	2.96	0.09542	T	-5.24	0.83967	D	0.932	0.93723	-1.1658	0.00625	T	0.058	0.24391	T	9	0.058538407	0.06899	T	0.105413	0.78051	D	0.265	0.57870	.	.	0.369495900351	0.36555	0.6167708119509334	0.61609	.	.	0.463515728712	0.33793	T	0.244729	0.61390	T	-0.228327	0.16871	T	-0.10076	0.63341	T	0.226720764463084	0.21794	T	0.983302	0.94339	D	0.3558464	0.57518	0.51286536	0.71851	0.5564812	0.70317	0.48367858	0.70109	-12.167	0.85655	D	0.7819148214802626	0.86167	0.429	0.61166	A	.;.;.	.;.;.	3.395509	0.47037	22.4	0.99347331965914221	0.60452	0.98707	0.85832	D	AEFI	0.702132	0.65861	D	0.403546842696297	0.61617	4.365257	0.377833915972305	0.60201	4.205067	0.391294052646005	0.20049	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.66	4.52	0.54797	6.222000	0.72195	5.100000	0.47427	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.07:0.0:0.93	11.517	0.49780	850	0.35610	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1446.33	33	chr7	21880850	.	T	G	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=710;ExcessHet=0;FS=4.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=1.76;SOR=0.377	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1460,0,972	18	0	1	0
chr7	23270036	23270036	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon9:c.C1326G:p.S442R,GPNMB:NM_002510:exon9:c.C1290G:p.S430R	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0135042549482	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0.0033	6.056e-05	0.0003169	49	154602	rs201324416	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0010	0.0039	0	3.744e-05	0.0038	0.0003	0.0008	0.0003	0.0004	0.0004	0.0004	0.0005	0.0016	0.0003	0.0003	0.0011	0.0009	4.814e-05	0	0.0016	0.0026	0	0	0.0034	0.0004	0.0014	0	0.011	0.57480	D	0.006	0.70582	D	0.302	0.35101	B	0.075	0.28327	B	0.119324	0.19078	N	0.550372	1	0.08975	N	1.24	0.30952	L	2.52	0.14284	T	-1.72	0.40850	N	0.249	0.29313	-1.0262	0.21690	T	0.025	0.10733	T	10	0.009191394	0.00208	T	0.013504	0.32951	T	0.028	0.06331	0.418	0.45873	0.363356657567	0.35953	0.42331066520073085	0.42248	0.0812915399549	0.09147	0.30528485775	0.11194	T	0.154275	0.49549	T	-0.556219	0.00267	T	-0.617298	0.11398	T	0.0176616899531179	0.00498	T	0.692631	0.35772	T	0.121337906	0.28535	0.118776895	0.28671	0.13537592	0.31420	0.090887845	0.21339	-5.145	0.38377	T	.	.	0.346	0.56304	A	.;.;.	.;.;.	1.366320	0.17758	13.35	0.97972316942777249	0.37261	0.31133	0.24260	N	AEFDBHCI	0.280975	0.39466	N	-0.550998794398071	0.20452	1.078265	-0.585051820037171	0.19883	1.068754	0.899729536003338	0.26058	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	3.19	0.35720	0.265000	0.18282	0.149000	0.15269	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1357:0.5715:0.1512:0.1415	3.927	0.08768	511	0.75131	.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1892.33	34	chr7	23270036	.	C	G	1892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=757;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=1.97;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1906,0,1268	18	0	1	0
chr7	23343720	23343720	T	C	exonic	IGF2BP3	.	nonsynonymous SNV	IGF2BP3:NM_006547:exon9:c.A1075G:p.N359D	.	527	987	6	2	0	10	0.00504032	0.5295	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00663718413662	0.0014	0.00139776	0.0016	0.0003	0.0003	0	0	0.0024	0	0.0015	0.0015265	236	154602	rs150697725	0.0015	0.0015	0.0014	0.0016	0.0113	0.0015	0.0014	0.0088	0.0079	0.0006	0.0010	0.0072	0	3.801e-05	0.0113	0.0014	0.0023	0.0017	0.0014	0.0014	0.0015	0.0013	0.0019	0.0013	0.0012	0.0016	0.0015	0.0002	0.0186	0.0010	0.0084	0.0002	0	0.0170	0.0019	0.0014	0.0019	0.086	0.32610	T	0.449	0.12993	T	0.57	0.38545	P	0.196	0.36635	B	0.000000	0.84330	D	0.043798	0.999999	0.58761	D	2.505	0.72935	M	2.47	0.14783	T	-2.63	0.56466	D	0.785	0.78167	-1.1069	0.03349	T	0.051	0.21572	T	10	0.01733157	0.00369	T	0.006637	0.17529	T	0.142	0.37995	.	.	0.573015231557	0.56968	0.8755917034805436	0.87526	0.820563155556	0.67147	0.787871837616	0.80119	T	0.226743	0.59185	T	-0.428993	0.01503	T	-0.395162	0.33948	T	0.0414881709879388	0.03961	T	0.80472	0.45238	T	0.57766545	0.71480	0.42031324	0.65998	0.57766545	0.71482	0.42031324	0.65998	-10.813	0.78622	D	.	.	0.550	0.66777	A	.	.	4.182213	0.62963	24.5	0.99646460069308629	0.77005	0.97419	0.74630	D	AEFBI	0.896416	0.83745	D	0.285496166847738	0.55413	3.705361	0.391027713869449	0.61009	4.295431	0.999999995737929	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	5.64	0.86480	6.136000	0.71452	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.862	0.78812	488	0.76887	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013295	0.019231	0.010959	0.038136	0.000000	0.008929	0.003623	0.008403	0.02632	1380.33	34	chr7	23343720	.	T	C	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.977;DP=747;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.941;SOR=0.608	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1394,0,1652	18	0	1	0
chr7	23521767	23521767	C	T	exonic	TRA2A	.	nonsynonymous SNV	TRA2A:NM_001362759:exon2:c.G110A:p.R37H,TRA2A:NM_013293:exon2:c.G110A:p.R37H	.	435	1086	1	0	0	1	0.000460193	.	.	.	3344026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00751783735624	0.0002	0.000199681	0.0001	0	8.639e-05	0.0001	0	0.0002	0.0011	6.056e-05	0.0001164	18	154602	rs142235949	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	0	8.944e-05	0	0	0	0	0.0002	0.0001	1.159e-05	8.538e-05	8.53e-05	8.994e-05	8.061e-05	0.0002	4.955e-05	3.961e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.102	0.38450	T	0.928	0.51611	P	0.211	0.37346	B	0.000005	0.62929	D	0.107611	0.99785	0.81001	D	1.59	0.40313	L	1.56	0.29602	T	-2.04	0.46842	N	0.22	0.24634	-1.1064	0.03398	T	0.058	0.24428	T	10	0.09479642	0.16883	T	0.007518	0.19952	T	0.074	0.21613	.	.	0.503002171853	0.49937	0.45606726026618916	0.45524	0.419777840034	0.42519	0.699258208275	0.67037	T	0.070395	0.33949	T	-0.325477	0.06459	T	-0.420588	0.31008	T	0.0828414907662746	0.10347	T	0.90391	0.66280	D	0.2643419	0.49501	0.24066816	0.49446	0.2643419	0.49501	0.24066816	0.49445	-7.39	0.56834	T	.	.	0.090	0.12560	B	.	.	4.594835	0.72715	25.9	0.99892039344409522	0.96589	0.91395	0.53447	D	AEFBCI	0.423558	0.48910	N	0.237528526161306	0.53026	3.473418	0.327152886140929	0.57140	3.878884	0.998858126885307	0.37823	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.05	0.67566	3.094000	0.49919	5.975000	0.52067	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1331:0.8669:0.0:0.0	16.360	0.83092	806	0.43582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	959.33	36	chr7	23521767	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=695;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.385;SOR=0.53	GT:AD:DP:GQ:PL	0/1:42,40:82:99:973,0,958	18	0	1	0
chr7	29086495	29086495	C	T	exonic	CPVL	.	nonsynonymous SNV	CPVL:NM_001371268:exon7:c.G418A:p.V140I,CPVL:NM_019029:exon7:c.G598A:p.V200I,CPVL:NM_031311:exon7:c.G598A:p.V200I,CPVL:NM_001348054:exon8:c.G598A:p.V200I,CPVL:NM_001371261:exon8:c.G598A:p.V200I,CPVL:NM_001371262:exon8:c.G598A:p.V200I,CPVL:NM_001348052:exon9:c.G598A:p.V200I,CPVL:NM_001371258:exon10:c.G598A:p.V200I,CPVL:NM_001371263:exon10:c.G598A:p.V200I,CPVL:NM_001371264:exon10:c.G598A:p.V200I,CPVL:NM_001371256:exon11:c.G598A:p.V200I,CPVL:NM_001371260:exon11:c.G598A:p.V200I,CPVL:NM_001371265:exon11:c.G388A:p.V130I,CPVL:NM_001371266:exon11:c.G388A:p.V130I,CPVL:NM_001371267:exon11:c.G388A:p.V130I,CPVL:NM_001371257:exon12:c.G598A:p.V200I,CPVL:NM_001371255:exon13:c.G598A:p.V200I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00457186787504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	0.474	0.12107	T	0.002	0.09854	B	0.007	0.12992	B	0.003620	0.34713	N	0.348390	0.863899	0.28313	N	-0.445	0.02820	N	1.87	0.24085	T	-0.62	0.23808	N	0.187	0.20395	-0.9990	0.30199	T	0.027	0.11574	T	10	0.15173405	0.28675	T	0.004572	0.11283	T	0.046	0.12618	0.423	0.46693	0.221019684889	0.21715	0.3241157832222144	0.32324	0.183562545926	0.20647	0.296965777874	0.09950	T	0.212838	0.66929	T	-0.221767	0.17753	T	-0.55633	0.16722	T	0.592502534389496	0.36105	D	0.844516	0.84537	T	0.050490197	0.09128	0.047061834	0.06697	0.050490197	0.09127	0.047061834	0.06697	-3.671	0.18891	T	.	.	0.092	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	1.706214	0.21731	15.32	0.67232685677065063	0.08293	0.92916	0.56863	D	AEFBI	0.576990	0.57876	D	-0.555380246501429	0.20314	1.070028	-0.344833430808529	0.26668	1.474579	0.986932409114669	0.31153	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.8	3.91	0.44383	3.903000	0.56031	1.444000	0.26551	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.938000	0.47775	0.0:0.8444:0.0:0.1556	11.388	0.49037	797	0.45241	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	760.33	41	chr7	29086495	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=664;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.34;SOR=0.694	GT:AD:DP:GQ:PL	0/1:19,31:50:99:774,0,354	18	0	1	0
chr7	29883988	29883988	C	T	exonic	WIPF3	.	nonsynonymous SNV	WIPF3:NM_001080529:exon5:c.C494T:p.A165V	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00478733225877	.	0.000399361	0.0014	0	0	0	0.0046	0.0019	0	0.0012	0.0005239	81	154602	rs200642657	0.0021	0.0021	0.0021	0.0021	0.0041	0.0021	0.0020	0.0028	0.0023	0.0005	0.0006	0.0003	5.659e-05	0.0043	0.0041	0.0023	0.0019	0.0008	0.0015	0.0015	0.0016	0.0014	0.0024	0.0013	0.0013	0.0021	0.0020	0.0004	0	0.0006	0.0003	0	0.0031	0	0.0024	0.0024	0.0004	0.732	0.03787	T	0.72	0.05345	T	0.0	0.02946	B	0.0	0.01387	B	0.073366	0.02276	N	2.149330	1	0.08975	N	-1.1	0.00987	N	0.94	0.43672	T	0.48	0.03041	N	0.042	0.04188	-1.0575	0.12388	T	0.026	0.11264	T	10	0.0038670003	0.00073	T	0.004787	0.11973	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.161051366702184	0.16026	0.0783901697628	0.08821	0.728453814983	0.71280	T	0.107739	0.42019	T	-0.704032	0.00035	T	-0.789927	0.02167	T	0.00469225642076224	0.00050	T	0.471053	0.13966	T	0.029971905	0.02580	0.04249815	0.05076	0.029971905	0.02579	0.04249815	0.05076	-3.841	0.21418	T	.	.	0.055	0.00412	B	.;.;.	.;.;.	-0.110536	0.03581	0.695	0.85226520618244095	0.15762	0.00315	0.01661	N	AEFDBCI	0.018868	0.00607	N	-1.83850202869672	0.00458	0.01968982	-1.80606501829346	0.00740	0.03297694	0.999992575693569	0.74766	0.443343	0.08805	1	0.657636	0.61667	0	0.666236	0.60216	0	0.542086	0.14980	0	.	.	4.45	-3.99	0.03798	-1.097000	0.03460	-0.754000	0.07565	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1547:0.3996:0.1586:0.2872	2.037	0.03327	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006821	0.000000	0.007205	0.000000	0.000000	0.009091	0.022293	0.000000	0.02632	243.34	28	chr7	29883988	.	C	T	243.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.597;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-0.638;SOR=0.85	GT:AD:DP:GQ:PL	0/1:21,12:33:99:257,0,501	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:54,27:81:56:56,0,1317	10	0	9	0
chr7	44624507	44624507	C	T	exonic	OGDH	.	nonsynonymous SNV	OGDH:NM_001003941:exon2:c.C164T:p.S55L,OGDH:NM_001165036:exon2:c.C164T:p.S55L,OGDH:NM_001363523:exon2:c.C164T:p.S55L,OGDH:NM_002541:exon2:c.C164T:p.S55L	Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive	9	1488	24	1	0	26	0.00866089	.	.	.	711001	not_provided|OGDH-related_disorder|Oxoglutaricaciduria	MedGen:C3661900|.|MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0065	0.00239617	0.0073	0.0012	0.0041	0.0001	0.0051	0.0113	0.0099	0.0013	0.0074385	1150	154602	rs2230445	0.0084	0.0084	0.0085	0.0083	0.0108	0.0083	0.0082	0.0096	0.0095	0.0012	0.0053	0.0064	0.0005	0.0069	0.0108	0.0097	0.0077	0.0017	0.0065	0.0065	0.0067	0.0063	0.0102	0.0062	0.0060	0.0096	0.0093	0.0013	0.0493	0.0056	0.0089	0	0.0054	0.0102	0.0102	0.0057	0.0010	0.002	0.78490	D	0.073	0.76473	T	0.196	0.49185	B	0.026	0.46066	B	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.04	0.55661	M	3.18	0.44065	T	-1.04	0.79229	N	0.675	0.82761	-0.8200	0.53933	T	0.099	0.36882	T	10	0.008775711	0.00199	T	.	.	.	0.240	0.54500	.	.	0.585511498628	0.58225	0.7184091987425503	0.71783	0.468580847674	0.46195	0.668700695038	0.62653	T	0.007884	0.80993	T	-0.124402	0.32405	T	0.0602058	0.74259	D	0.0248309922447693	0.01251	T	0.967253	0.96997	D	0.75910515	0.81400	0.68841344	0.81671	0.75910515	0.81402	0.68841344	0.81672	-8.419	0.75147	D	.	.	0.258	0.68156	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.186321	0.63061	24.5	0.99880893242462043	0.95733	0.97124	0.72830	D	AEFDBI	0.737590	0.68274	D	0.303422790274948	0.56324	3.79694	0.329612306434553	0.57285	3.893858	0.999999998296174	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	3.85	0.43556	5.790000	0.68684	4.891000	0.45764	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8538:0.1462:0.0	14.694	0.68723	605	0.67457	2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain	.	.	.	.	rs55711887	Likely benign	0	0	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	0.013092	0.035354	0.019022	0.000000	0.000000	0.008621	0.012195	0.007576	0.02632	621.33	36	chr7	44624507	.	C	T	621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=726;ExcessHet=0;FS=4.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.797;SOR=1.562	GT:AD:DP:GQ:PL	0/1:26,22:48:99:635,0,611	18	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	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	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:47829595_G_C:227,0,1671:47829595	8	0	5	6
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|1:67,31:98:99:0|1:47829595_G_C:227,0,1671:47829595	4	0	15	0
chr7	50368103	50368103	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C258G:p.C86W	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633516232254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.992	0.64738	D	0.668	0.53048	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.55	0.68764	D	0.367	0.40864	-1.0175	0.24528	T	0.112	0.40168	T	7	0.22200659	0.38941	T	0.006335	0.16639	T	0.049	0.13647	0.296	0.26041	0.134007934775	0.12933	.	.	.	.	.	.	.	0.208199	0.56807	T	-0.197415	0.21179	T	-0.521349	0.20158	T	0.298957865891781	0.24961	T	0.225777	0.02969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.77631	P	.	.	0.166192	0.05559	2.017	0.58119396721632754	0.05921	0.02436	0.06868	N	AEFGBIJ	0.155410	0.28061	N	-0.424791676120027	0.24603	1.329603	-0.604950428239627	0.19365	1.038678	0.99998324477684	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	3.1	0.34780	0.101000	0.15088	-0.142000	0.11507	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.1191:0.0:0.8809	5.968	0.18570	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	220.1	194	chr7	50368103	.	C	G	220.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.91;DP=2083;ExcessHet=0.7564;FS=116.86;InbreedingCoeff=-0.1132;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.09;SOR=9.49	GT:AD:DP:GQ:PL	0/1:137,18:156:93:93,0,4111	17	0	2	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	0/1:122,40:170:99:115,0,4008	9	0	8	2
chr7	67279892	67279894	GAG	-	exonic	SPDYE21	.	nonframeshift deletion	SPDYE21:NM_001382715:exon2:c.235_237del:p.E81del	.	445	1072	4	1	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0028431	74	26028	rs555977902	0.0077	0.0076	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0010	0.0048	0.0547	0	0.0006	0.0038	0.0079	0.0084	0.0015	0.0059	0.0058	0.0060	0.0057	0.0076	0.0055	0.0054	0.0070	0.0068	0.0014	0	0.0072	0.0505	0.0002	9.502e-05	0.0068	0.0076	0.0087	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5856.39	36	chr7	67279891	.	TGAG	T	5856.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.472;DP=834;ExcessHet=0.7564;FS=5.489;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=49.99;MQRankSum=4.01;QD=20.77;ReadPosRankSum=-0.628;SOR=0.796	GT:AD:DP:GQ:PL	0/1:62,39:101:99:1451,0,2486	15	0	4	0
chr7	73318994	73318994	A	G	exonic	TRIM50	.	nonsynonymous SNV	TRIM50:NM_001281450:exon4:c.T554C:p.L185P,TRIM50:NM_001281451:exon4:c.T554C:p.L185P,TRIM50:NM_178125:exon4:c.T554C:p.L185P	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	.	.	0.0028	9.615e-05	8.639e-05	0.0230	0.0056	0.0012	0.0044	0.0008	.	.	.	rs200754952	0.0002	0.0005	0.0002	0.0002	0.0026	0.0002	0.0002	0.0022	0.0020	5.976e-05	2.236e-05	0.0004	0.0026	0.0008	0	0.0001	0.0006	0.0002	7.223e-05	0.0002	7.71e-05	6.714e-05	0.0002	3.969e-05	3.125e-05	7.866e-05	5.571e-05	0.0002	0	0	0	0.0002	0	0	4.41e-05	0	0	0.202	0.20230	T	0.147	0.32783	T	.	.	.	.	.	.	0.129525	0.18691	N	0.376195	0.999669	0.48141	D	.	.	.	-0.31	0.68030	T	-2.93	0.61284	D	0.828	0.82559	-0.8586	0.51363	T	0.163	0.49864	T	10	0.009555131	0.00215	T	.	.	.	0.396	0.71084	.	.	0.804951669259	0.80312	0.812810617731975	0.81237	0.425124690016	0.42928	0.620636701584	0.55819	T	0.203956	0.56258	T	-0.203013	0.20371	T	-0.0577095	0.66493	T	0.0127174444119566	0.00214	T	0.569643	0.20265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.81795	P	.;.	.;.	4.478454	0.69849	25.4	0.97607384869442138	0.34887	0.86597	0.45910	D	AEFDBHCI	0.717122	0.66874	D	-0.194801917771444	0.33350	1.891095	-0.0288273768065145	0.38419	2.26318	0.996616903762093	0.34869	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	2.213000	0.42483	10.719000	0.83620	0.580000	0.29708	0.744000	0.29069	1.000000	0.68203	0.984000	0.60418	0.7079:0.0:0.0:0.2921	8.259	0.30938	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	68.33	40	chr7	73318994	.	A	G	68.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.407;DP=903;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.99;MQRankSum=-14.66;QD=0.26;ReadPosRankSum=2.65;SOR=0.541	GT:AD:DP:GQ:PL	0/1:226,37:263:82:82,0,6511	18	0	1	0
chr7	74711097	74711097	T	G	exonic	GTF2I	.	nonsynonymous SNV	GTF2I:NM_001163636:exon9:c.T751G:p.Y251D,GTF2I:NM_001280800:exon9:c.T751G:p.Y251D,GTF2I:NM_001518:exon9:c.T751G:p.Y251D,GTF2I:NM_032999:exon9:c.T751G:p.Y251D,GTF2I:NM_033000:exon9:c.T751G:p.Y251D,GTF2I:NM_033001:exon9:c.T751G:p.Y251D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0270967972919	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199687489	7.848e-07	6.86e-07	1.573e-06	0	1.347e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.347e-05	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	0.002	0.72154	D	0.002	0.83351	D	0.996	0.70673	D	0.899	0.79672	P	0.004572	0.33608	N	0.208547	0.849294	0.29449	N	1.895	0.50365	L	1.24	0.49919	T	-3.39	0.66896	D	0.894	0.89353	-0.7452	0.58185	T	0.223	0.58678	T	10	0.6940148	0.72030	D	0.027097	0.49947	D	0.200	0.48430	0.269	0.21735	0.939048002523	0.93841	0.6064874021337336	0.60579	.	.	0.807655215263	0.83133	D	0.848567	0.96532	D	0.250049	0.78607	D	0.121402	0.78329	D	0.957959294319153	0.65143	D	0.943306	0.80194	D	0.11917769	0.28066	0.15165158	0.35713	0.11917769	0.28066	0.15165158	0.35712	-2.322	0.13101	T	.	.	0.690	0.82455	P	.;.;.;.;.	.;.;.;.;.	3.770900	0.54161	23.5	0.97827504801627185	0.36239	0.94871	0.62619	D	AEBI	0.370088	0.45658	N	0.225713909864608	0.52447	3.418885	0.172413078357017	0.48341	3.051343	0.903435531941937	0.26152	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	4.87	0.62877	4.394000	0.59433	6.164000	0.54386	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.736000	0.35301	0.0:0.0789:0.0:0.9211	9.660	0.39114	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	973.33	36	chr7	74711097	.	T	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.07;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,38:85:99:987,0,1125	18	0	1	0
chr7	75405067	75405067	T	C	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon4:c.T724C:p.W242R,TRIM74:NM_198853:exon4:c.T724C:p.W242R,TRIM73:NM_198924:exon4:c.T724C:p.W242R	.	421	1100	0	1	0	2	0.000908265	0	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00807094292626	0.0009	0.00139776	0.0028	0.0006	0.0011	0.0059	0.0082	0.0030	0.0044	0.0008	0.0001488	23	154602	rs139338132	0.0019	0.0022	0.0019	0.0019	0.0083	0.0019	0.0019	0.0076	0.0073	0.0004	0.0011	0.0062	0.0083	0.0089	0.0010	0.0014	0.0023	0.0008	0.0025	0.0029	0.0025	0.0026	0.0061	0.0023	0.0023	0.0044	0.0038	0.0005	0	0.0019	0.0081	0.0061	0.0088	0	0.0025	0.0029	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.015580	0.28211	N	0.241055	0.999991	0.18878	N	-0.805	0.01590	N	-0.22	0.66652	T	5.15	0.00247	N	0.174	0.21319	-1.0190	0.24041	T	0.098	0.36728	T	10	0.005619824	0.00125	T	0.008071	0.21393	T	0.103	0.29403	0.576	0.70087	0.21737058555	0.21362	0.009416757305320331	0.00904	.	.	0.269359052181	0.06058	T	0.005441	0.04891	T	-0.508944	0.00509	T	-0.502197	0.22121	T	0.000507140484801802	0.00004	T	0.0727927	0.00791	T	0.058901075	0.11905	0.06640068	0.13595	0.058901075	0.11904	0.06640068	0.13595	-1.657	0.02119	T	.	.	0.038	0.09094	B	.;.;.;.;.	.;.;.;.;.	1.414733	0.18307	13.66	0.7637123368430857	0.11441	0.02733	0.07404	N	AEFI	0.041062	0.06192	N	-0.862645020683284	0.11740	0.5682506	-0.700356746248871	0.16951	0.8991472	2.22642065109239E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.36	3.36	0.37579	2.005000	0.40484	3.004000	0.35933	-0.300000	0.06199	1.000000	0.71638	0.996000	0.32793	0.207000	0.22098	0.0:0.8928:0.0:0.1072	9.816	0.40024	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	0.001794	0.000000	0.001366	0.000000	0.083333	0.000000	0.003546	0.000000	0.02632	3137.33	33	chr7	75405067	.	T	C	3137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.123;DP=929;ExcessHet=0;FS=14.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.44;MQRankSum=-3.655;QD=10.53;ReadPosRankSum=1.89;SOR=0.809	GT:AD:DP:GQ:PL	0/1:147,151:298:99:3151,0,3247	18	0	1	0
chr7	75422328	75422328	C	T	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.G1924A:p.V642M	.	432	1089	1	0	0	1	0.000458926	.	.	.	2192995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0166944482338	.	0.000199681	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs587695223	0.0006	0.0008	0.0007	0.0006	0.0017	0.0006	0.0006	0.0014	0.0013	5.988e-05	0.0002	0.0015	0.0017	0.0056	0	0.0004	0.0010	0.0003	0.0008	0.0010	0.0007	0.0009	0.0023	0.0007	0.0006	0.0013	0.0010	4.81e-05	0	0.0002	0.0009	0.0023	0.0052	0	0.0006	0.0019	0.0004	.	.	.	0.011	0.64786	D	0.994	0.66517	D	0.669	0.53077	P	0.117686	0.02697	N	2.036930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.091	0.10911	-1.0292	0.20713	T	0.056	0.23753	T	10	0.008209616	0.00186	T	0.016694	0.38065	T	.	.	.	.	0.0716867268079	0.06686	0.09211376097334553	0.09144	.	.	0.487985908985	0.37159	T	0.006243	0.05676	T	-0.624652	0.00103	T	-0.672467	0.07451	T	0.032899999570433	0.02455	T	0.608739	0.23716	T	0.011771278	0.00022	0.027055128	0.00832	0.011771278	0.00022	0.027055128	0.00832	-5.358	0.41369	T	.	.	0.101	0.17573	B	.;.	.;.	1.535808	0.19703	14.39	0.99607063249147221	0.74575	0.01389	0.04721	N	AEFI	0.045705	0.07506	N	-0.488995921805993	0.22440	1.19828	-0.73177885509907	0.16172	0.8541905	1.13015377037565E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.04	-1.44	0.08391	-0.213000	0.09309	0.178000	0.15598	-0.442000	0.05168	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3053:0.2053:0.4893	3.627	0.07658	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	.	.	.	.	.	.	.	.	0.02632	550.33	39	chr7	75422328	.	C	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=891;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.86;MQRankSum=-2.981;QD=4.14;ReadPosRankSum=-1.091;SOR=0.556	GT:AD:DP:GQ:PL	0/1:99,34:133:99:564,0,2308	18	0	1	0
chr7	82955134	82955134	A	G	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.T5819C:p.V1940A,PCLO:NM_033026:exon5:c.T5819C:p.V1940A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00503637536144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.988e-05	0.0008	0.0001	6.489e-05	0.0001	8.613e-05	8.139e-05	0.0001	9.919e-05	6.116e-05	0	7.739e-05	2.532e-05	1.876e-05	0	0.0001	5.073e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.16738	T	0.689	0.06713	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.841799	0.28620	N	.	.	.	2.37	0.15964	T	-0.86	0.23372	N	0.161	0.16864	-1.1000	0.04091	T	0.034	0.14639	T	9	0.055983305	0.06203	T	0.005036	0.12722	T	0.036	0.09122	0.229	0.15556	0.082315109003	0.07666	0.2211493867221283	0.22029	0.0408442198111	0.04386	0.307065427303	0.11463	T	.	.	.	-0.293286	0.09308	T	-0.659062	0.08329	T	0.0645057335495949	0.07857	T	0.50395	0.15873	T	0.08804871	0.20528	0.1128583	0.27234	0.08804871	0.20527	0.1128583	0.27233	-3.687	0.19127	T	.	.	0.154	0.33981	B	.;.	.;.	2.624131	0.34107	19.53	0.93578451478470703	0.23424	0.52198	0.29075	D	AEFHCI	0.193031	0.32016	N	-0.227058754292087	0.32027	1.801898	-0.0721877402814723	0.36545	2.128139	0.0971982074694305	0.16273	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	4.41	0.52588	1.949000	0.39938	7.118000	0.57587	0.756000	0.94297	0.838000	0.30254	1.000000	0.68203	0.997000	0.79791	0.8516:0.0:0.1484:0.0	8.547	0.32591	887	0.27948	.;.	.	.	.	.	.	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	41.33	78	chr7	82955134	.	A	G	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.677;DP=1808;ExcessHet=0;FS=109.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=-0.652;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,19:140:55:0|1:82955133_C_G:55,0,4533:82955133	18	0	1	0
chr7	91874077	91874077	A	-	exonic	MTERF1	.	frameshift deletion	MTERF1:NM_001301134:exon2:c.657delT:p.F219Lfs*7,MTERF1:NM_006980:exon3:c.717delT:p.F239Lfs*7,MTERF1:NM_001301135:exon4:c.657delT:p.F219Lfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	767.29	41	chr7	91874076	.	TA	T	767.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.801;SOR=0.76	GT:AD:DP:GQ:PL	0/1:26,29:55:99:781,0,681	18	0	1	0
chr7	92058290	92058290	G	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon1:c.G122T:p.C41F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.2345	0.76769	T	0.374	0.73287	T	5	0.2704359	0.44575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233577	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.	.	1.605605	0.20521	14.79	0.8420152342954077	0.15154	0.87659	0.47272	D	AEFDBHI	.	.	.	0.213321199254475	0.51845	3.36263	0.263548253779121	0.53424	3.511444	0.99999999735152	0.74766	0.087844	0.02253	0	0.083875	0.02048	0	0.060301	0.00762	0	0.062806	0.01542	0	0.438892	0.38373	5.29	4.4	0.52402	2.716000	0.46888	3.637000	0.39334	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.4308:0.5691:0.0	15.004	0.71153	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	51.44	.	chr7	92058290	.	G	T	51.44	.	AC=2;AF=0.5;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=25.72;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	17
chr7	93101365	93101365	A	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.T4733C:p.I1578T,SAMD9:NM_017654:exon3:c.T4733C:p.I1578T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	8	1506	8	0	0	8	0.00264901	.	.	.	700283	SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified|not_provided	.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0082	0.00119808	0.0063	0.0027	0.0047	0.0001	0.0033	0.0097	0.0055	0.0004	0.0061189	946	154602	rs144380633	0.0086	0.0086	0.0089	0.0082	0.0103	0.0084	0.0084	0.0101	0.0100	0.0031	0.0033	0.0050	0.0002	0.0041	0.0045	0.0103	0.0072	0.0005	0.0063	0.0063	0.0071	0.0053	0.0095	0.0059	0.0058	0.0089	0.0086	0.0028	0.0515	0.0053	0.0043	0.0002	0.0032	0	0.0095	0.0057	0.0010	0.117	0.28271	T	0.261	0.22962	T	0.034	0.20480	B	0.01	0.14941	B	0.000101	0.51296	U	0.076580	0.865367	0.35463	D	1.325	0.33218	L	1.7	0.26885	T	-1.38	0.34198	N	0.289	0.32701	-1.0491	0.14649	T	0.040	0.17063	T	10	0.003968388	0.00076	T	.	.	.	0.057	0.16321	.	.	0.39798585902	0.39410	0.761286815586817	0.76076	0.204124172079	0.22834	0.408249616623	0.26215	T	0.009829	0.08919	T	-0.50466	0.00538	T	-0.487298	0.23673	T	0.0117568175455189	0.00181	T	0.641436	0.25361	T	0.033533625	0.03591	0.070413545	0.14956	0.036537778	0.04512	0.070413545	0.14955	-2.395	0.05102	T	0.3746701528559821	0.46981	0.108	0.20625	B	.;.	.;.	2.065214	0.26261	17.06	0.97686562160227419	0.35346	0.95653	0.65588	D	AEFBI	0.415768	0.48450	N	-0.0830117775747788	0.38137	2.229104	0.0398832287104833	0.41586	2.500856	0.617595841576832	0.21856	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.44	3.3	0.36912	3.823000	0.55415	1.280000	0.25345	0.731000	0.85647	0.999000	0.42656	0.553000	0.25478	0.968000	0.53726	0.9074:0.0:0.0926:0.0	9.291	0.36945	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	0	0	1	0	0.004532	0.005051	0.006793	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	781.83	33	chr7	93101365	.	A	G	781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.29;DP=645;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.11;SOR=0.629	GT:AD:DP:GQ:PL	0/1:20,13:33:99:388,0,501	17	0	2	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,31:182:99:.:.:159,0,5419:.	7	0	12	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	0/1:148,36:184:99:.:.:187,0,5418:.	5	0	14	0
chr7	99392716	99392716	G	A	exonic	ARPC1B	.	nonsynonymous SNV	ARPC1B:NM_005720:exon8:c.G829A:p.G277R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.104906562759	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	2.15e-06	3.42e-06	2.827e-06	1.454e-06	1.264e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.857e-06	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.039	0.51112	D	0.987	0.61912	D	0.899	0.63802	P	0.001443	0.38980	N	0.279033	0.915765	0.27407	N	2.63	0.76995	M	-0.15	0.65192	T	-2.9	0.60827	D	0.529	0.55799	-0.4468	0.70505	T	0.360	0.72193	T	10	0.35679755	0.52410	T	0.104907	0.77974	D	0.260	0.57221	0.396	0.42262	0.77622490962	0.77416	0.740391240046675	0.73984	0.887556139356	0.70071	0.622993290424	0.56152	T	0.245152	0.61440	T	-0.0366349	0.46448	T	-0.2904	0.45731	T	0.932540453324081	0.59865	D	0.915608	0.69895	D	0.19453306	0.41206	0.13657305	0.32668	0.19453306	0.41206	0.13657305	0.32667	-7.623	0.58471	D	0.377076116341447	0.47194	0.410	0.66073	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.264087	0.64821	24.8	0.99611663796704963	0.74873	0.89712	0.50354	D	ALL	0.730438	0.67783	D	0.223182620418389	0.52324	3.407305	0.0702371448854139	0.43061	2.615681	0.999999996241443	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.07	3.26	0.36471	6.697000	0.74428	8.668000	0.77998	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.142000	0.20019	0.1519:0.0:0.8481:0.0	11.181	0.47854	500	0.76024	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	998.33	35	chr7	99392716	.	G	A	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=699;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.78;SOR=0.56	GT:AD:DP:GQ:PL	0/1:35,37:72:99:1012,0,820	18	0	1	0
chr7	99665259	99665259	T	C	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.A577G:p.I193V,CYP3A5:NM_001291829:exon8:c.A238G:p.I80V,CYP3A5:NM_001291830:exon8:c.A547G:p.I183V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0136273423735	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370657167	6.156e-06	6.156e-06	8.167e-06	4.125e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.724	0.03880	T	0.988	0.02376	T	0.0	0.02946	B	0.002	0.06944	B	0.000143	0.49130	N	0.205064	1	0.81001	D	-0.12	0.04575	N	-0.31	0.68030	T	-0.15	0.09297	N	0.043	0.01577	-1.0156	0.25143	T	0.088	0.34133	T	10	0.075491965	0.11673	T	0.013627	0.33179	T	0.116	0.32463	0.64	0.77687	0.474722520063	0.47101	0.39442954219600573	0.39357	0.174241393469	0.19618	.	.	.	0.006068	0.05507	T	-0.236113	0.15849	T	-0.576936	0.14820	T	0.0467327123412175	0.04917	T	0.675932	0.28448	T	0.05300034	0.09966	0.04607512	0.06342	0.05300034	0.09965	0.04607512	0.06341	-6.154	0.47550	T	.	.	0.082	0.08899	B	.	.	-0.249942	0.02846	0.399	0.56577059287099596	0.05582	0.13812	0.18065	N	AEFGBCI	0.119320	0.23293	N	-1.46855884381392	0.02075	0.09125561	-1.47199601812314	0.02577	0.1187371	0.997884106344825	0.36150	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.84	-2.13	0.06745	-0.090000	0.11129	-12.077000	0.00552	0.665000	0.62972	0.118000	0.23139	0.000000	0.08366	0.027000	0.12703	0.0:0.6567:0.0:0.3433	9.204	0.36437	78	0.96748	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3244.33	33	chr7	99665259	.	T	C	3244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=881;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.73;SOR=0.533	GT:AD:DP:GQ:PL	0/1:128,133:261:99:3258,0,3160	18	0	1	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	0/1:54,46:106:99:.:.:1402,0,1585:.	1	0	18	0
chr7	100752308	100752308	-	CAGAAAAACCCACCACCCCCA	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT,ZAN:NM_173059:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.408e-06	0	0	0	0	1.525e-05	0	0	3.84e-05	1	26028	rs758781764	1.649e-05	2.974e-05	2.049e-05	1.235e-05	8.316e-05	1.055e-05	8.5e-06	3.228e-05	2.062e-05	0	0	0	0	8.361e-05	0	1.085e-05	2.403e-05	8.316e-05	3.338e-05	2.61e-05	6.81e-05	0	7.165e-05	5.54e-06	2.07e-06	1.186e-05	4.43e-06	0	0	0	0	0	0	0	7.165e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	707.79	33	chr7	100752308	.	C	CCAGAAAAACCCACCACCCCCA	707.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.657;DP=1388;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-4.161;QD=2.34;ReadPosRankSum=-0.025;SOR=0.663	GT:AD:DP:GQ:PL	0/1:135,25:161:99:284,0,4453	17	0	2	0
chr7	100752324	100752324	-	CCCCACAGAAAAACCCACCAT	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI,ZAN:NM_173059:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.056e-05	0	0	0	0.0003	4.587e-05	0	6.089e-05	3.84e-05	1	26028	rs781315033	9.528e-05	0.0001	8.519e-05	0.0001	0.0002	8.056e-05	7.487e-05	0.0001	0.0001	0	0	0.0002	0	0.0007	0	6.921e-05	0.0001	0.0002	9.854e-05	0.0002	0.0001	8.461e-05	0.0002	4.584e-05	3.223e-05	9.45e-05	6.658e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1579.79	33	chr7	100752324	.	C	CCCCCACAGAAAAACCCACCAT	1579.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.167;DP=1415;ExcessHet=0.119;FS=14.38;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-5.024;QD=5.06;ReadPosRankSum=3.99;SOR=1.617	GT:AD:DP:GQ:PL	0/1:112,37:149:99:1163,0,3802	17	0	2	0
chr7	100752560	100752622	ATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	-	exonic	ZAN	.	nonframeshift deletion	ZAN:NM_003386:exon14:c.2455_2517del:p.M819_S839del,ZAN:NM_173059:exon14:c.2455_2517del:p.M819_S839del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1098.79	33	chr7	100752559	.	CATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	C	1098.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.5;DP=2005;ExcessHet=0.119;FS=0.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.82;MQRankSum=-6.745;QD=0.8;ReadPosRankSum=-1.775;SOR=0.975	GT:AD:DP:GQ:PL	0/1:561,56:617:99:624,0,23245	17	0	2	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	0|1:53,69:122:99:0|1:100773849_CCAT_C:2729,0,2018:100773849	3	9	7	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	0/1:101,54:155:99:1959,0,4067	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|1:468,187:717:99:0|1:100952942_T_G:6443,0,19088:100952942	5	0	14	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:424,115:604:99:.:.:3553,0,17458:.	2	0	17	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	98027.7	868	chr7	100953371	.	C	*	98027.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=12379;ExcessHet=38.2876;FS=7.032;InbreedingCoeff=-0.9;MLEAC=3;MLEAF=0.079;MQ=57.43;MQRankSum=-13.36;QD=9.48;ReadPosRankSum=0.156;SOR=1.192	GT:AD:DP:GQ:PL	0/1:198,196:657:99:7581,0,7705	16	0	3	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	491.09	467	chr7	100955170	.	G	*	491.09	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.24;DP=6383;ExcessHet=2.9153;FS=17.057;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.111;MQ=58.69;MQRankSum=-16.33;QD=0.19;ReadPosRankSum=-1.061;SOR=2.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,37:379:99:0|1:100955170_G_T:533,0,14123:100955170	14	0	4	1
chr7	100955172	100955175	CACG	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	241.19	477	chr7	100955172	.	CACG	*	241.19	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.12;DP=6413;ExcessHet=2.0135;FS=24.257;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.118;MQ=58.75;MQRankSum=-15.03;QD=0.1;ReadPosRankSum=-1.203;SOR=3.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,33:378:99:0|1:100955170_G_T:356,0,14261:100955170	13	0	4	2
chr7	100955174	100955177	CGAT	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1686.78	477	chr7	100955174	.	CGAT	*	1686.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.17;DP=6403;ExcessHet=2.0135;FS=13.466;InbreedingCoeff=-0.1878;MLEAC=5;MLEAF=0.132;MQ=57.98;MQRankSum=-8.168;QD=0.73;ReadPosRankSum=-2.426;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,33:378:99:0|1:100955170_G_T:356,0,14261:100955170	14	0	5	0
chr7	102934571	102934571	T	A	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.T658A:p.L220M,LRRC17:NM_005824:exon2:c.T658A:p.L220M	.	430	1060	30	2	0	34	0.0157846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0205330549804	0.0046	0.00139776	0.0047	0.0021	0.0042	0	0.0044	0.0063	0.0089	0.0023	0.0044178	683	154602	rs36040681	0.0040	0.0040	0.0039	0.0041	0.0210	0.0039	0.0039	0.0179	0.0168	0.0019	0.0050	0.0265	0	0.0031	0.0210	0.0036	0.0071	0.0021	0.0043	0.0043	0.0043	0.0043	0.0049	0.0040	0.0039	0.0040	0.0038	0.0023	0.0022	0.0049	0.0317	0.0002	0.0036	0.0102	0.0043	0.0080	0.0027	0.032	0.46129	D	0.05	0.48080	T	0.257	0.33512	B	0.143	0.36295	B	0.627179	0.10722	N	0.753644	1	0.08975	N	1.79	0.46772	L	0.09	0.63911	T	-0.31	0.12099	N	0.291	0.32921	-0.9874	0.33249	T	0.091	0.34847	T	10	0.0042235553	0.00084	T	0.020533	0.43144	T	0.073	0.21317	.	.	0.353974658523	0.35008	0.2819359309231691	0.28106	0.331437822524	0.35218	0.276401311159	0.06996	T	0.033263	0.22839	T	-0.46394	0.00929	T	-0.429799	0.29957	T	0.0145937820321721	0.00300	T	0.613939	0.24114	T	0.089716	0.20969	0.06520197	0.13181	0.089716	0.20969	0.06520197	0.13181	-4.612	0.32322	T	.	.	0.074	0.08129	B	.;.	.;.	0.376272	0.07484	4.124	0.95126299566557715	0.26230	0.04616	0.10276	N	AEFDBI	0.164558	0.29096	N	-1.24876555415695	0.04316	0.1945527	-1.3501848080759	0.03804	0.1781696	0.999999995568789	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.640751	0.46059	0	0.631631	0.49550	0	.	.	5.28	-8.74	0.00725	-1.001000	0.03800	-4.773000	0.01992	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.6661:0.167:0.1669	14.132	0.64796	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031722	0.035354	0.042120	0.035088	0.050000	0.034483	0.015244	0.011364	0.02632	1595.33	39	chr7	102934571	.	T	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-2.058;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1609,0,1632	18	0	1	0
chr7	105788641	105788641	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001385596:exon3:c.C318G:p.N106K,ATXN7L1:NM_020725:exon3:c.C318G:p.N106K,ATXN7L1:NM_152749:exon3:c.C318G:p.N106K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0077	0.00379393	0.0077	0.0012	0.0054	0	0.0023	0.0113	0.0077	0.0051	0.0074579	1153	154602	rs28927677	0.0081	0.0081	0.0080	0.0082	0.0144	0.0080	0.0079	0.0119	0.0110	0.0012	0.0061	0.0159	0	0.0034	0.0144	0.0089	0.0079	0.0052	0.0066	0.0066	0.0072	0.0060	0.0103	0.0063	0.0061	0.0096	0.0094	0.0011	0.0022	0.0078	0.0236	0	0.0018	0.0034	0.0103	0.0076	0.0041	0.01	0.56456	D	0.058	0.64786	T	0.361	0.33905	B	0.036	0.22909	B	0.027623	0.25726	N	0.381598	0.988571	0.40788	D	1.83	0.48079	L	1.51	0.30937	T	-1.75	0.64710	N	0.547	0.59053	-1.1226	0.02173	T	0.042	0.18076	T	10	0.009251058	0.00209	T	.	.	.	0.054	0.15330	0.394	0.41935	0.405012372841	0.40113	0.2807373689386551	0.27986	0.538293804333	0.51094	0.667548060417	0.62488	T	0.007687	0.07080	T	-0.571769	0.00216	T	-0.584688	0.14130	T	0.0167754753692597	0.00433	T	0.794321	0.67676	T	0.12191851	0.28659	0.111467086	0.26888	0.12191851	0.28659	0.111467086	0.26888	-6.405	0.52715	T	.	.	0.714	0.73533	P	.;.;.	.;.;.	2.291149	0.29305	18.08	0.99211898793577336	0.55624	0.73606	0.36004	D	AEFDBCI	0.378636	0.46196	N	-0.343299740688166	0.27520	1.510493	-0.286956831858924	0.28527	1.591313	0.952434576798502	0.28016	0.643511	0.44296	0	0.548873	0.16688	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	6.03	-0.335	0.12034	0.355000	0.19902	2.759000	0.34591	-0.116000	0.14526	0.980000	0.35271	1.000000	0.68203	0.996000	0.76049	0.5664:0.0:0.4336:0.0	9.978	0.40966	899	0.25060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013105	0.000000	0.001359	0.032164	0.050000	0.025862	0.024390	0.003817	0.02632	1230.33	33	chr7	105788641	.	G	C	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=730;ExcessHet=0;FS=2.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.537;SOR=0.49	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1244,0,1405	18	0	1	0
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	0/1:88,95:183:99:2362,0,2034	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	0/1:32,25:57:99:669,0,722	17	0	2	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	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	0/1:115,103:218:99:2732,0,2807	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	0/1:36,33:69:99:1278,0,1394	17	0	2	0
chr7	144363303	144363303	C	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.C634T:p.P212S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0100558227832	.	.	.	.	.	.	.	.	.	.	0.007684	200	26028	rs1208147	6.793e-05	0.0003	6.347e-05	7.243e-05	0.0024	5.703e-05	5.24e-05	0.0020	0.0018	0.0024	6.729e-05	7.661e-05	0	0	0	8.2e-06	0.0001	0	0.0002	0.0010	0.0002	0.0002	0.0006	0.0001	8.917e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0.0005	0	0.545	0.06691	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.000183	0.00507	N	11.057400	1	0.08975	N	-0.895	0.01383	N	-0.61	0.71779	T	0.99	0.01428	N	0.041	0.01421	-1.0353	0.18762	T	0.012	0.04747	T	9	0.046354502	0.03816	T	0.010056	0.26146	T	0.089	0.25827	.	.	0.266843984389	0.26308	0.06077182296519952	0.06017	.	.	0.210763379931	0.00844	T	0.033657	0.23005	T	-0.292443	0.09391	T	-0.657851	0.08411	T	0.103486150503159	0.12736	T	0.216578	0.02710	T	0.026300617	0.01671	0.037522525	0.03422	0.026300617	0.01671	0.037522525	0.03422	-3.174	0.12165	T	.	.	0.058	0.00681	B	.	.	-1.239578	0.00492	0.011	0.25021103931815836	0.01134	0.00088	0.00587	N	AEFI	0.019783	0.00719	N	-1.88534093304723	0.00368	0.01581131	-1.90507211559732	0.00478	0.02119396	5.04030978275033E-5	0.03989	0.693126	0.56070	0	0.623229	0.53319	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.62	-4.93	0.02839	-3.506000	0.00499	-1.945000	0.04454	-0.715000	0.03906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4276:0.3249:0.2476	6.212	0.19846	958	0.09170	Rho guanine nucleotide exchange factor 5/35, 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	.	.	.	.	.	.	.	.	0.05263	40.71	34	chr7	144363303	.	C	T	40.71	.	AC=2;AF=0.053;AN=38;DP=1027;ExcessHet=0;FS=0;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=25;QD=20.36;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0	18	1	0	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	0/1:89,80:169:99:2198,0,2429	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	0/1:46,68:114:99:1693,0,1090	17	0	2	0
chr7	151806945	151806946	AA	-	exonic	LOC644090	.	frameshift deletion	LOC644090:NM_001354885:exon1:c.50_51del:p.K20Afs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.997e-05	0.0002	1.87e-05	2.092e-05	6.118e-05	7.85e-06	4.25e-06	1.623e-05	8.5e-06	0	4.656e-05	0	0	0	0	7.576e-06	0	6.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	100.46	2	chr7	151806944	.	GAA	G	100.46	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.524;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2227;MLEAC=2;MLEAF=0.077;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PL	1/1:0,2:2:6:80,6,0	12	1	0	6
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	0/1:232,81:313:99:1193,0,8181	1	0	18	0
chr8	245524	245524	A	T	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.A677T:p.H226L,ZNF596:NM_001042416:exon6:c.A677T:p.H226L,ZNF596:NM_001287254:exon6:c.A677T:p.H226L,ZNF596:NM_001287255:exon6:c.A677T:p.H226L,ZNF596:NM_001287256:exon6:c.A677T:p.H226L,ZNF596:NM_001287399:exon6:c.A278T:p.H93L,ZNF596:NM_173539:exon6:c.A677T:p.H226L	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00115831006178	0.0008	0.00139776	0.0008	9.619e-05	0.0015	0	0	0.0010	0.0022	0.0006	0.0008279	128	154602	rs117000175	0.0007	0.0007	0.0007	0.0008	0.0102	0.0007	0.0007	0.0081	0.0074	0.0006	0.0019	0.0009	0	0	0.0102	0.0006	0.0012	0.0009	0.0009	0.0010	0.0009	0.0010	0.0040	0.0008	0.0008	0.0032	0.0029	0.0002	0	0.0040	0.0006	0	0	0.0340	0.0007	0.0024	0.0017	0.126	0.27194	T	0.018	0.59732	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.385	0.03041	N	2.62	0.12988	T	-3.88	0.72710	D	0.17	0.18239	-0.9854	0.33735	T	0.012	0.04747	T	9	0.0056350827	0.00125	T	0.001158	0.01459	T	0.028	0.06331	.	.	0.184867976434	0.18130	0.01811527253717236	0.01765	0.00235242544378	0.00204	0.341484248638	0.16660	T	0.04669	0.27500	T	-0.58859	0.00171	T	-0.625029	0.10794	T	0.00526502202671645	0.00057	T	0.0927907	0.00688	T	0.25944582	0.48998	0.158705	0.37048	0.25944582	0.48998	0.158705	0.37047	-5.739	0.44039	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	2.034203	0.25852	16.91	0.82173823889056663	0.14056	0.00003	0.00079	N	AEFDBHCI	0.046258	0.07661	N	-1.06195813269749	0.07354	0.3413807	-1.0999105980027	0.07702	0.3757173	0.0033413775384499	0.10067	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.645948	0.59608	0	.	.	2.63	1.48	0.21900	-0.640000	0.05537	1.376000	0.25995	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.5951:0.2601:0.1447:0.0	2.975	0.05572	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|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	0.015609	0.005051	0.023098	0.023392	0.000000	0.017241	0.012195	0.003788	0.02632	1862.33	34	chr8	245524	.	A	T	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=962;ExcessHet=0;FS=2.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.098;SOR=0.671	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1876,0,1689	18	0	1	0
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|1:174,86:260:99:0|1:10609947_C_G:632,0,4485:10609947	6	0	10	3
chr8	10623162	10623162	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C40T:p.R14C	Occult macular dystrophy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	898744	Occult_macular_dystrophy|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0905667406411	.	.	8.428e-05	0	0	0.0002	0	3.281e-05	0	0.0005	5.82e-05	9	154602	rs765708710	8.847e-05	9.303e-05	9.104e-05	8.586e-05	0.0004	7.557e-05	7.097e-05	0.0003	0.0003	3.016e-05	0.0002	0	0.0001	0	0	7.197e-05	1.686e-05	0.0004	7.234e-05	7.223e-05	5.143e-05	9.423e-05	0.0006	3.974e-05	3.13e-05	0.0002	9.014e-05	2.416e-05	0	0	0	0.0004	0	0	7.351e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999481	0.21117	N	2.14	0.59869	M	3.48	0.05130	T	-3.26	0.65397	D	0.442	0.48042	-1.0965	0.04542	T	0.040	0.17404	T	9	0.18187496	0.33439	T	0.090567	0.75543	D	0.107	0.30369	0.217	0.13788	0.540198931682	0.53672	0.20282355506801197	0.20199	.	.	0.493453919888	0.37918	T	0.385758	0.74708	T	-0.330421	0.06080	T	-0.392393	0.34271	T	0.260790705680847	0.23349	T	0.766023	0.39401	T	0.26337692	0.49402	0.18941575	0.42287	0.26337692	0.49402	0.18941575	0.42286	-5.939	0.45766	T	0.5542887075169105	0.62257	0.200	0.42332	B	.	.	4.631257	0.73641	26.0	0.99915165394301486	0.98379	0.76006	0.37246	D	AEFBI	0.343751	0.43947	N	0.419980678722513	0.62520	4.469379	0.355553317372067	0.58842	4.057528	0.995470869751805	0.34147	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.395000	0.73157	2.492000	0.32988	0.674000	0.70861	1.000000	0.71638	0.997000	0.33255	0.901000	0.43729	0.1027:0.0:0.8973:0.0	10.078	0.41546	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1589.33	40	chr8	10623162	.	G	A	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=803;ExcessHet=0;FS=5.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.936;SOR=1.103	GT:AD:DP:GQ:PL	0/1:85,62:147:99:1603,0,2103	18	0	1	0
chr8	24955487	24955487	G	C	exonic	NEFL	.	nonsynonymous SNV	NEFL:NM_006158:exon1:c.C1029G:p.D343E	Charcot-Marie-Tooth disease, type 1F, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, type 2E, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	934233	not_provided|Charcot-Marie-Tooth_disease_type_2E	MedGen:C3661900|MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.534e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs781084022	7.548e-06	7.524e-06	1.229e-05	2.76e-06	8.953e-05	4.05e-06	2.96e-06	2.987e-05	1.806e-05	0	8.953e-05	0	0	0	0	5.402e-06	1.66e-05	0	6.612e-06	6.578e-06	0	1.356e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.989	0.02371	T	0.005	0.12996	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.12627	.	.	.	.	.	.	.	0.2224063	0.38991	T	.	.	.	.	.	.	.	0.807647182049	0.80584	0.39722525498653977	0.39637	.	.	0.62215256691	0.56033	T	0.501137	0.82146	D	-0.200785	0.20691	T	-0.350343	0.39167	T	.	.	.	0.868913	0.58002	D	0.1830093	0.39548	0.39776683	0.64383	0.1830093	0.39547	0.39776683	0.64383	-3.143	0.11797	T	0.046763516088741686	0.00654	0.261	0.49528	B	.;.;.	.;.;.	3.752805	0.53807	23.4	0.94191910211260499	0.24419	0.58699	0.30712	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999957853508	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.091162	0.02695	0	0.96882	0.71182	5.1	5.1	0.68917	1.408000	0.34277	5.769000	0.49731	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0761:0.0:0.7767:0.1473	8.991	0.35183	898	0.25240	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1677.33	100	chr8	24955487	.	G	C	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.785;DP=921;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.334;SOR=0.455	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1691,0,1566	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	0/1:136,42:178:99:169,0,3157	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	0/1:61,20:81:81:.:.:81,0,1163:.	7	0	11	1
chr8	39749410	39749410	T	C	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon17:c.A1859G:p.Y620C,ADAM2:NM_001278114:exon17:c.A1727G:p.Y576C,ADAM2:NM_001464:exon18:c.A1916G:p.Y639C	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0035	0.000599042	0.0073	0.0008	0.0005	0	0.0291	0.0098	0.0055	0.0010	0.0064876	1003	154602	rs113117613	0.0055	0.0055	0.0057	0.0053	0.0053	0.0054	0.0054	0.0052	0.0051	0.0006	0.0007	0.0052	0	0.0295	0.0019	0.0053	0.0041	0.0016	0.0051	0.0051	0.0044	0.0059	0.0061	0.0048	0.0047	0.0056	0.0054	0.0006	0	0.0009	0.0046	0.0002	0.0276	0	0.0061	0.0062	0.0008	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	3.165	0.88605	M	-4.5	0.97650	D	-6.97	0.94196	D	0.748	0.77319	0.865	0.95220	D	0.944	0.98163	D	9	0.015770882	0.00331	T	.	.	.	0.352	0.67326	.	.	0.961795882662	0.96138	0.8831942922477366	0.88287	0.194257842881	0.21761	0.481885701418	0.36317	T	0.573478	0.85916	D	-0.165859	0.25863	T	-0.00462415	0.70035	D	0.115990617188411	0.14034	T	0.887111	0.87984	D	0.17439848	0.38242	0.21871173	0.46584	0.17439848	0.38242	0.21871173	0.46583	-10.948	0.79980	D	.	.	0.719	0.80826	P	.;.;.;.;.	.;.;.;.;.	2.177111	0.27751	17.57	0.92755912545840247	0.22264	0.01376	0.04691	N	AEI	0.035058	0.04449	N	-0.52545164252018	0.21260	1.12693	-0.885702346302069	0.12432	0.6394657	6.48668089972477E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	-5.42	0.02434	-0.334000	0.07927	-2.161000	0.04123	-0.157000	0.11712	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.7051:0.0894:0.0:0.2056	7.111	0.24566	849	0.35778	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	816.33	33	chr8	39749410	.	T	C	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=665;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.216;SOR=0.579	GT:AD:DP:GQ:PL	0/1:18,35:53:99:830,0,351	18	0	1	0
chr8	41618729	41618729	G	A	exonic	GPAT4	.	nonsynonymous SNV	GPAT4:NM_001363197:exon11:c.G1099A:p.G367R,GPAT4:NM_178819:exon11:c.G1099A:p.G367R,GPAT4:NM_001363198:exon12:c.G475A:p.G159R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.173128227687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423307177	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.993e-07	0	0	6.57e-06	6.566e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.015	0.52492	D	0.055	0.46862	T	0.245	0.31074	B	0.066	0.27432	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-3.27	0.93640	D	-2.32	0.51478	N	0.97	0.98065	0.351	0.88356	D	0.718	0.90309	D	10	0.7690784	0.76936	D	0.173128	0.84991	D	0.693	0.88867	0.574	0.69826	0.955198934392	0.95471	0.9731592485454964	0.97304	1.63632663427	0.89315	0.919833064079	0.98311	D	0.248415	0.61821	T	0.469312	0.93309	D	0.436358	0.93224	D	0.908958792686462	0.56370	D	0.971203	0.89615	D	0.39157	0.60144	0.4285216	0.66563	0.39157	0.60144	0.4285216	0.66563	-12.842	0.88701	D	.	.	0.847	0.79589	P	.	.	4.846468	0.79174	27.0	0.9987473048759874	0.95160	0.99548	0.97318	D	AEFDBI	0.945246	0.95332	D	0.335298702810981	0.57968	3.966568	0.499760219471056	0.67975	5.156586	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	10.003000	0.99689	9.931000	0.82580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	18.819	0.92054	766	0.49742	.	.	.	.	.	.	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	3574.81	34	chr8	41618729	.	G	A	3574.81	.	AC=2;AF=0.053;AN=38;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.09;SOR=1.49	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3602,345,0	18	1	0	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	926.75	91	chr8	73292778	.	GAACC	G	926.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.787;DP=1565;ExcessHet=0.3672;FS=235.638;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.26;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	16	0	3	0
chr8	73292780	73292780	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	184.15	82	chr8	73292780	.	A	*	184.15	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	13	0	3	3
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	185.19	74	chr8	73292781	.	C	*	185.19	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	10	0	3	6
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1113.09	74	chr8	73292782	.	C	CGGGG	1113.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	14	0	3	2
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|1:40,47:87:99:0|1:76707586_T_A:1839,0,1538:76707586	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	0/1:4,9:13:99:361,0,138	16	0	2	1
chr8	93795434	93795434	A	G	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon17:c.A1700G:p.Y567C,TMEM67:NM_001142301:exon18:c.A1457G:p.Y486C	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	269753	Meckel-Gruber_syndrome|Joubert_syndrome|not_specified|TMEM67-related_disorder|Intellectual_disability|not_provided|RHYNS_syndrome|COACH_syndrome_1|Bardet-Biedl_syndrome_14|Joubert_syndrome_6|Nephronophthisis_11|Meckel_syndrome,_type_3	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:CN169374|MedGen:CN239423|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0011202,MedGen:C1865794,OMIM:602152,Orphanet:140976|MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475|MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081|MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.733	0.156010230017	0.0002	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0	9.06e-05	14	154602	rs148726767	5.062e-05	5.062e-05	5.717e-05	4.4e-05	0.0009	4.125e-05	3.778e-05	0.0003	0.0002	0.0002	0.0002	0	2.52e-05	0	0.0009	3.327e-05	0.0002	1.159e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	4.41e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0034	4.41e-05	0	0	0.165	0.24372	T	0.149	0.33000	T	0.999	0.77913	D	0.968	0.71741	D	0.000362	0.45194	D	0.195772	0.999985	0.54805	D	2.665	0.77964	M	-4.22	0.96982	D	-3.1	0.63554	D	0.858	0.85449	1.056	0.98257	D	0.929	0.97641	D	10	0.81791043	0.81015	D	0.15601	0.83685	D	0.733	0.90677	.	.	0.999787485279	0.99978	0.6555895954105879	0.65494	0.343984992891	0.36322	0.695970654488	0.66563	T	0.721285	0.92125	D	0.257227	0.79273	D	0.425199	0.92903	D	0.577224969863892	0.35512	D	0.959604	0.84807	D	0.21262333	0.43619	0.22663823	0.47649	0.21262333	0.43619	0.22663823	0.47648	-10.354	0.76004	D	0.631423443732426	0.70087	0.120	0.24867	B	.;.	.;.	4.972732	0.82304	27.8	0.9979392045269535	0.87928	0.94187	0.60377	D	AEFDBI	0.584083	0.58305	D	0.682238232219929	0.78470	6.877856	0.679222816957779	0.80806	7.381026	0.998501037599346	0.37090	0.651	0.46895	0	0.670034	0.63936	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.56	5.56	0.83678	5.752000	0.68375	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.019	0.80268	583	0.69484	.;.	.	.	.	.	.	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	0.02632	1357.33	35	chr8	93795434	.	A	G	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=759;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.12;SOR=0.672	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1371,0,1532	18	0	1	0
chr8	94380187	94380187	T	G	exonic	RAD54B	.	nonsynonymous SNV	RAD54B:NM_001205263:exon10:c.A1653C:p.L551F,RAD54B:NM_012415:exon12:c.A2205C:p.L735F	Colon cancer, somatic;Lymphoma, non-Hodgkin, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.1034718716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887209060	2.054e-06	2.052e-06	1.362e-06	2.752e-06	8.998e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.998e-07	3.314e-05	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	0.003	0.68238	D	0.005	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.82	0.95555	H	-1.14	0.77843	T	-3.8	0.71762	D	0.846	0.84194	0.622	0.92178	D	0.720	0.90386	D	10	0.862853	0.85513	D	0.103472	0.77752	D	0.797	0.93346	0.662	0.79996	0.955859239386	0.95538	0.7790835503258186	0.77859	0.482352734304	0.47196	0.699455857277	0.67065	T	0.857903	0.96822	D	0.370385	0.88073	D	0.294256	0.87921	D	0.997299611568451	0.91218	D	0.967703	0.88280	D	0.52741987	0.68684	0.48577535	0.70236	0.52741987	0.68685	0.48577535	0.70237	-12.06	0.85142	D	.	.	0.667	0.71607	P	.;.	.;.	4.528473	0.71068	25.6	0.99891311637169977	0.96513	0.88137	0.47934	D	AEFBI	0.264121	0.38153	N	0.846447953626875	0.88905	9.757705	0.761156741860401	0.86990	9.06943	0.177696449500874	0.17827	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.83	5.83	0.93059	2.112000	0.41516	3.434000	0.38335	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0854:0.0:0.9146	9.450	0.37883	770	0.49152	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1110.33	36	chr8	94380187	.	T	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=707;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.776;SOR=0.989	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1124,0,942	18	0	1	0
chr8	120425355	120425355	C	T	exonic	MRPL13	.	nonsynonymous SNV	MRPL13:NM_014078:exon4:c.G257A:p.G86E	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	.	0.0019	0.00139776	0.0036	0.0009	0.0023	0	0.0132	0.0047	0.0044	6.065e-05	0.0034864	539	154602	rs61753788	0.0035	0.0036	0.0037	0.0034	0.0037	0.0035	0.0034	0.0036	0.0035	0.0006	0.0021	0.0005	0	0.0145	0.0009	0.0037	0.0033	0.0002	0.0033	0.0033	0.0030	0.0037	0.0040	0.0031	0.0030	0.0036	0.0035	0.0006	0	0.0016	0.0003	0	0.0160	0	0.0040	0.0033	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.974	0.73157	D	0.000262	0.46590	D	0.180124	0.999998	0.58761	D	4.57	0.99180	H	.	.	.	-7.61	0.95574	D	0.82	0.81559	0.581	0.91652	D	0.615	0.86397	D	9	0.03554383	0.01808	T	.	.	.	0.920	0.97965	.	.	0.855042360338	0.85364	0.8209121999329461	0.82048	0.651785227857	0.58399	0.567448496819	0.48317	T	0.755253	0.93326	D	0.0472742	0.57992	T	0.297464	0.88080	D	0.489980667829514	0.32263	T	0.922708	0.71908	D	0.91816944	0.93070	0.8603076	0.92200	0.91816944	0.93071	0.8603076	0.92201	-8.885	0.66953	D	.	.	0.941	0.85964	P	.;.	.;.	5.224415	0.87683	29.3	0.99828825062757132	0.91112	0.97264	0.73666	D	AEFBI	0.775966	0.70922	D	0.966762629170911	0.94626	12.90769	0.863005170345295	0.93752	12.25572	0.999999999215643	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	6.703000	0.74456	7.680000	0.65243	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.001	0.89119	636	0.64483	.;.	.	.	.	.	.	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	0.002016	0.015306	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	763.33	33	chr8	120425355	.	C	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=676;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.536;SOR=0.493	GT:AD:DP:GQ:PL	0/1:22,34:56:99:777,0,492	18	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	1464.83	34	chr8	125009277	.	A	G	1464.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.313;DP=762;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.59;SOR=0.865	GT:AD:DP:GQ:PL	0/1:37,28:65:99:567,0,827	17	0	2	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:100,39:141:99:111,0,1520	4	0	12	3
chr8	132898216	132898216	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon13:c.C3187A:p.L1063M	Thyroid dyshormonogenesis 3, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	313087	not_specified|not_provided|Iodotyrosyl_coupling_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0082	0.0081869	0.0040	0.0338	0.0019	0	0	0.0002	0.0040	9.154e-05	0.0023932	370	154602	rs11992497	0.0009	0.0009	0.0010	0.0009	0.0306	0.0009	0.0009	0.0291	0.0284	0.0306	0.0012	0	0	5.657e-05	0.0027	8.032e-05	0.0022	0.0002	0.0083	0.0083	0.0084	0.0082	0.0290	0.0079	0.0078	0.0277	0.0271	0.0290	0	0.0020	0	0	0	0	0.0002	0.0076	0	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000536	0.43581	D	0.000000	0.961299	0.26113	N	2.34	0.67151	M	-0.06	0.63568	T	-1.08	0.28084	N	0.502	0.53445	-0.8855	0.49315	T	0.111	0.39888	T	10	0.006319672	0.00143	T	.	.	.	0.177	0.44549	.	.	0.759014107521	0.75682	0.3343158231967732	0.33344	0.408338008412	0.41673	0.394506037235	0.24302	T	0.239842	0.60804	T	-0.407493	0.02065	T	-0.335799	0.40819	T	0.0242922707031531	0.01182	T	0.624837	0.24114	T	0.5965675	0.72506	0.37360147	0.62544	0.5965675	0.72507	0.37360147	0.62543	-6.596	0.51022	T	0.7748856050662979	0.85550	0.217	0.44707	B	.	.	2.307428	0.29529	18.15	0.99431217794098847	0.64276	0.33816	0.24919	N	AEFDBI	0.130576	0.24919	N	0.103817991495538	0.46639	2.901324	-0.0471119606583764	0.37616	2.204851	0.964315165595309	0.28751	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.91	1.61	0.22752	0.734000	0.25769	0.713000	0.20952	0.549000	0.26987	0.413000	0.26274	0.196000	0.23534	0.354000	0.25750	0.0:0.5266:0.0:0.4734	6.990	0.23929	770	0.49152	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005061	0.000000	0.009511	0.008772	0.000000	0.000000	0.003086	0.000000	0.02632	553.33	33	chr8	132898216	.	C	A	553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=701;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.398;SOR=0.859	GT:AD:DP:GQ:PL	0/1:32,24:56:99:567,0,760	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	0/1:43,35:78:99:.:.:724,0,1192:.	15	1	3	0
chr8	144053012	144053012	G	A	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon21:c.C2989T:p.R997C	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	8	1505	8	1	0	10	0.00331126	.	.	YES	722927	5-Oxoprolinase_deficiency|OPLAH-related_disorder	Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0677678209345	0.0007	0.000998403	0.0020	0.0008	0.0019	0	0.0042	0.0021	0.0069	0.0028	0.0010673	165	154602	rs200620019	0.0015	0.0015	0.0015	0.0016	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0012	0.0002	0	0.0018	0.0016	0.0017	0.0015	0.0017	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0013	0.0004	0	0.0014	0.0003	0	0.0013	0	0.0017	0.0019	0.0019	.	.	.	0.245	0.24054	T	0.001	0.07471	B	0.0	0.01387	B	0.000665	0.42516	N	0.224693	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.34874	-1.0697	0.09479	T	0.069	0.28280	T	7	0.024509609	0.00677	T	0.067768	0.70262	D	.	.	.	.	0.0611884634855	0.05136	0.7345155527722153	0.73396	.	.	0.446842074394	0.31513	T	0.228207	0.59369	T	-0.313085	0.07478	T	-0.235732	0.51215	T	0.0175973269371574	0.00492	T	0.927207	0.73169	D	0.13649634	0.31640	0.09140176	0.21488	0.13649634	0.31639	0.09140176	0.21487	-5.705	0.43738	T	.	.	0.071	0.03811	B	.	.	1.180808	0.15714	12.05	0.77116757265257052	0.11743	0.93207	0.57605	D	AEFDGBCI	0.294135	0.40459	N	-0.76091193151905	0.14339	0.7134327	-0.711350193189876	0.16678	0.8834247	0.999804926266527	0.43304	0.144939	0.03206	3	0.096583	0.02683	0	0.090275	0.02917	3	0.091162	0.02695	0	.	.	4.68	0.665	0.17066	0.306000	0.19030	.	.	-0.154000	0.11915	0.069000	0.22043	0.000000	0.08366	0.095000	0.18041	0.387:0.0:0.4565:0.1565	3.979	0.08977	970	0.06235	Hydantoinase B/oxoprolinase	.	.	.	.	.	Likely benign	0	0	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	0.001517	0.005102	0.001366	0.002959	0.000000	0.000000	0.003067	0.000000	0.02632	2344.33	45	chr8	144053012	.	G	A	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=953;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.55;SOR=0.79	GT:AD:DP:GQ:PL	0/1:107,91:198:99:2358,0,2458	18	0	1	0
chr8	144264233	144264233	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G970A:p.E324K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0192376660274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904680381	0.0013	0.0013	0.0012	0.0014	0.0097	0.0013	0.0012	0.0076	0.0068	0.0003	0.0015	0.0173	2.528e-05	3.861e-05	0.0097	0.0010	0.0028	0.0013	0.0014	0.0014	0.0013	0.0015	0.0018	0.0012	0.0012	0.0012	0.0011	0.0005	0.0121	0.0018	0.0164	0	0	0.0068	0.0012	0.0024	0.0004	0.228	0.18434	T	0.15	0.32461	T	.	.	.	.	.	.	0.001395	0.39175	N	0.211078	.	.	.	.	.	.	1.07	0.39586	T	-2.44	0.53420	N	0.236	0.26596	-0.8609	0.51198	T	0.114	0.40559	T	6	0.014840722	0.00312	T	0.10154	0.77448	D	.	.	.	.	0.283272178027	0.27931	0.43584697494302443	0.43501	.	.	0.764852046967	0.76653	T	0.194478	0.55027	T	-0.188948	0.22413	T	-0.509187	0.21399	T	0.872432172298431	0.52231	D	.	.	.	0.09370612	0.22014	0.1122232	0.27075	0.09370612	0.22014	0.1122232	0.27074	-9.848	0.72997	D	.	.	0.092	0.13783	B	.	.	1.559095	0.19974	14.53	0.97557370007692779	0.34604	0.30039	0.23979	N	AEFGI	0.308554	0.41510	N	-0.477214403953392	0.22830	1.221735	-0.552560978675029	0.20738	1.118674	0.0671524018112715	0.15417	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	2.67	0.30756	0.739000	0.25841	1.068000	0.23780	-0.195000	0.09104	0.008000	0.17931	0.307000	0.24252	0.001000	0.02609	0.0:0.8837:0.0:0.1163	8.855	0.34379	946	0.12043	BOP1, N-terminal domain|BOP1, 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	.	.	.	.	.	.	.	.	0.05263	3589.83	39	chr8	144264233	.	C	T	3589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=954;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.594;SOR=0.654	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1767,0,1999	17	0	2	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	0/1:46,28:74:99:654,0,1354	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	0/1:153,51:204:99:912,0,4100	16	0	3	0
chr9	5335325	5335325	G	A	exonic	RLN1	.	stopgain	RLN1:NM_006911:exon2:c.C484T:p.R162X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.301e-05	0	0	0	0	6.004e-05	0	0	4.53e-05	7	154602	rs567396544	4.658e-05	4.652e-05	4.907e-05	4.406e-05	6.024e-05	3.732e-05	3.416e-05	2.286e-05	2.023e-05	6.024e-05	0	0.0009	2.521e-05	0	0	3.149e-05	8.295e-05	2.334e-05	3.949e-05	3.941e-05	3.859e-05	4.042e-05	4.838e-05	1.718e-05	1.131e-05	1.171e-05	6.25e-06	4.838e-05	0	0	0.0003	0	0	0	4.412e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000419	0.00596	N	4.831150	0.999908	0.50806	D	.	.	.	.	.	.	.	.	.	0.617	0.63289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.134612	0.30753	T	-0.248991	0.49916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.171031	0.62719	24.5	0.68042334596722631	0.08537	0.00367	0.01872	N	AEFDBI	0.031371	0.03344	N	-0.699991851144929	0.16022	0.8126871	-1.18183508665137	0.06213	0.2983609	0.986161168120932	0.31015	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.23	-4.47	0.03278	-2.205000	0.01316	.	.	-1.090000	0.01539	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2227:0.4049:0.2309:0.1415	1.926	0.03117	906	0.23090	Insulin-like|Insulin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1728.33	33	chr9	5335325	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=731;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.253;SOR=0.547	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1742,0,1206	18	0	1	0
chr9	15723666	15723666	A	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon12:c.A1435G:p.M479V,CCDC171:NM_001348002:exon14:c.A1156G:p.M386V	.	532	987	2	1	0	4	0.00202224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.000798722	0.0039	0.0010	0.0014	0	0.0059	0.0057	0.0023	0.0014	0.0039003	603	154602	rs192857827	0.0049	0.0050	0.0050	0.0048	0.0057	0.0048	0.0048	0.0056	0.0055	0.0007	0.0009	0.0031	0	0.0048	0.0032	0.0057	0.0041	0.0013	0.0036	0.0036	0.0037	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0031	0.0020	0	0.0042	0	0.0058	0.0024	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	216.33	33	chr9	15723666	.	A	G	216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=669;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.564;SOR=0.932	GT:AD:DP:GQ:PL	0/1:31,14:45:99:230,0,681	18	0	1	0
chr9	18770656	18770656	C	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon17:c.C2272T:p.R758C	.	433	1086	3	0	0	3	0.00137931	.	.	.	3242913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.374	0.0458475370928	.	.	0.0001	0	0.0007	0	0	0.0001	0	0.0001	0.0001552	24	154602	rs554272440	6.433e-05	6.43e-05	5.719e-05	7.154e-05	0.0006	5.363e-05	4.978e-05	0.0004	0.0003	0	0.0006	0	2.52e-05	0	0.0003	5.037e-05	8.284e-05	5.807e-05	0.0001	0.0001	0.0001	0.0001	0.0008	9.74e-05	8.255e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0.0001	0.0005	0	0.014	0.53172	D	0.015	0.61642	D	1.0	0.90584	D	0.993	0.81110	D	1.000000	0.07966	U	0.071793	1	0.81001	D	3.075	0.87202	M	0.52	0.55266	T	-2.53	0.54864	D	0.717	0.71942	-0.4137	0.71592	T	0.434	0.77465	T	10	0.6619966	0.70207	D	0.045848	0.62176	D	0.374	0.69273	0.618	0.75232	0.692535075215	0.68989	0.37103510228422076	0.37017	0.453800598545	0.45067	0.682112216949	0.64572	T	0.140398	0.47492	T	0.0301816	0.55749	T	0.159611	0.80783	D	0.252750164481202	0.22996	T	0.953805	0.82399	D	0.17072497	0.37664	0.17754303	0.40363	0.17072497	0.37664	0.17754303	0.40362	-11.182	0.80647	D	.	.	0.362	0.57342	A	.	.	5.546805	0.92016	32	0.99942027681063261	0.99824	0.97828	0.77433	D	AEFDBI	0.811402	0.73439	D	0.812256555357523	0.86868	9.025146	0.778972669617883	0.88294	9.528997	0.99999999999899	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	4.628000	0.60981	6.028000	0.52885	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.358	0.94413	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	991.33	33	chr9	18770656	.	C	T	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.44;SOR=0.665	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1005,0,1007	18	0	1	0
chr9	34725051	34725051	G	A	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.C2189T:p.P730L	.	416	1104	2	0	0	2	0.000904977	.	.	.	3326523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0296278384954	0.0031	0.000399361	0.0010	0.0004	0	0	0	0.0019	0	0.0006	0.0003105	48	154602	rs201196002	0.0020	0.0020	0.0022	0.0019	0.0024	0.0020	0.0020	0.0024	0.0023	0.0005	0.0021	3.971e-05	0	2.025e-05	0.0002	0.0024	0.0019	0.0004	0.0015	0.0015	0.0015	0.0015	0.0029	0.0013	0.0013	0.0023	0.0020	0.0006	0	0.0029	0.0003	0	0	0	0.0022	0.0009	0.0002	0.139	0.25768	T	0.651	0.06713	T	0.357	0.33788	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	1.42	0.35681	L	0.48	0.55945	T	-5.56	0.86296	D	0.08	0.05542	-1.0548	0.13093	T	0.071	0.28839	T	9	0.0066292584	0.00150	T	0.029628	0.52101	D	0.064	0.18567	.	.	0.256283259241	0.25257	0.1578384741936185	0.15704	.	.	0.259660661221	0.04851	T	0.01357	0.11716	T	-0.575721	0.00205	T	-0.605618	0.12344	T	0.0175933337652726	0.00492	T	0.60344	0.22635	T	0.04697243	0.07952	0.080289274	0.18149	0.04697243	0.07951	0.080289274	0.18149	-3.185	0.12298	T	.	.	0.109	0.20857	B	.	.	1.072063	0.14545	11.11	0.87542543851102106	0.17303	0.02236	0.06491	N	AEFGI	0.027218	0.02186	N	-0.877264391834544	0.11385	0.5491259	-0.896023506851977	0.12188	0.6254743	0.212608527730083	0.18258	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.249	0.14790	0.133000	0.15736	-1.301000	0.05774	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.783000	0.37026	0.4122:0.0:0.5878:0.0	7.587	0.27167	460	0.78750	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	65.33	179	chr9	34725051	.	G	A	65.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.109;DP=2137;ExcessHet=0;FS=0.906;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.6;MQRankSum=-2.986;QD=0.42;ReadPosRankSum=-0.12;SOR=0.534	GT:AD:DP:GQ:PL	0/1:136,20:156:79:79,0,5079	18	0	1	0
chr9	35095222	35095222	G	C	exonic	PIGO	.	nonsynonymous SNV	PIGO:NM_032634:exon2:c.C344G:p.P115R,PIGO:NM_152850:exon2:c.C344G:p.P115R,PIGO:NM_001201484:exon3:c.C344G:p.P115R	Hyperphosphatasia with mental retardation syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0818534053541	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746099877	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	6.572e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.011	0.76473	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	0.34	0.60485	T	-7.32	0.97087	D	0.858	0.85979	-0.2806	0.75524	T	0.416	0.76313	T	10	0.7343064	0.74513	D	0.081853	0.73772	D	0.476	0.76816	0.486	0.56939	0.86784043115	0.86655	0.8900067816836318	0.88970	0.661884173113	0.58947	0.481452643871	0.36258	T	0.368921	0.73372	T	0.332228	0.85315	D	0.239446	0.85123	D	0.995092988014221	0.86821	D	0.833317	0.50404	T	0.8353092	0.86275	0.8327926	0.90367	0.8353092	0.86276	0.8327926	0.90368	-12.458	0.87010	D	0.5988722436005867	0.66584	0.138	0.35077	B	.;.;.	.;.;.	4.251083	0.64526	24.7	0.99828309412097438	0.91026	0.99304	0.94225	D	AEFBCI	0.952847	0.96865	D	0.703589487355436	0.79869	7.169481	0.772123532141153	0.87796	9.34808	1.0	0.98316	0.643511	0.44296	0	0.685571	0.66316	0	0.685571	0.62057	0	0.631631	0.49550	0	.	.	5.93	5.93	0.95888	9.769000	0.98151	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	20.354	0.98826	115	0.95340	.;.;GPI ethanolamine phosphate transferase 3, 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	1510.33	37	chr9	35095222	.	G	C	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.721;DP=716;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.794;SOR=0.914	GT:AD:DP:GQ:PL	0/1:36,58:94:99:1524,0,913	18	0	1	0
chr9	35399710	35399710	T	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon26:c.T2960A:p.L987H,UNC13B:NM_001371187:exon28:c.T5210A:p.L1737H,UNC13B:NM_001330653:exon35:c.T4070A:p.L1357H,UNC13B:NM_001371186:exon35:c.T4067A:p.L1356H,UNC13B:NM_006377:exon35:c.T4070A:p.L1357H,UNC13B:NM_001371189:exon36:c.T12317A:p.L4106H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0778137870111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.003	0.79402	D	0.994	0.66517	D	0.962	0.70672	D	0.000015	0.62929	D	0.116084	0.999993	0.58761	D	1.59	0.40313	L	-0.9	0.74896	T	-4.25	0.76094	D	0.844	0.83987	0.048	0.83205	D	0.506	0.81372	D	10	0.8652476	0.85765	D	0.077814	0.72858	D	0.685	0.88490	0.644	0.78117	0.901731029544	0.90075	0.3884417862430836	0.38759	0.897036786801	0.70495	0.756010591984	0.75337	T	0.043023	0.68009	T	0.0926431	0.63484	D	-0.104701	0.63030	T	0.966887295246124	0.67728	D	0.950905	0.81262	D	0.444049	0.63662	0.57395875	0.75321	0.444049	0.63663	0.57395875	0.75322	-10.481	0.76738	D	.	.	0.333	0.55452	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.570935	0.72120	25.8	0.98195647513577289	0.39071	0.99846	0.99811	D	AEFDBI	0.923298	0.89956	D	0.715986808179274	0.80680	7.348353	0.731190404185249	0.84746	8.378835	0.99999999155551	0.74766	0.706548	0.73137	0	0.486142	0.07564	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.931000	0.87079	7.957000	0.75973	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.861	0.78806	141	0.94388	.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2	.	.	.	.	.	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	1630.33	37	chr9	35399710	.	T	A	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.306;DP=813;ExcessHet=0;FS=2.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.81;SOR=0.487	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1644,0,2026	18	0	1	0
chr9	37708413	37708413	G	A	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon4:c.G274A:p.G92S,FRMPD1:NM_001371225:exon4:c.G274A:p.G92S,FRMPD1:NM_014907:exon4:c.G274A:p.G92S,FRMPD1:NM_001371224:exon5:c.G274A:p.G92S	.	.	.	.	.	.	.	.	.	.	.	2291644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.491	0.0540115837287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017054886	3.771e-05	4.036e-05	4.914e-05	2.618e-05	0.0002	2.967e-05	2.662e-05	3.468e-05	3.13e-05	0	0	0	0	0	0.0002	4.509e-05	1.659e-05	3.481e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	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	2.65	0.77586	M	0.18	0.60361	T	-3.77	0.71397	D	0.713	0.76666	-0.2182	0.77199	T	0.404	0.75430	T	10	0.8036151	0.79729	D	0.054012	0.65694	D	0.491	0.77783	0.694	0.83126	0.89508434464	0.89404	0.6843717735326942	0.68376	0.632580163813	0.57186	0.556144118309	0.46723	T	0.070042	0.33862	T	0.146801	0.68969	D	-0.0114216	0.69593	D	0.985069334506989	0.76171	D	0.981135	0.93511	D	0.58947295	0.72122	0.69503176	0.82045	0.58947295	0.72123	0.69503176	0.82046	-8.453	0.64117	D	.	.	0.252	0.50398	B	.;.	.;.	5.439160	0.90915	32	0.99900992246896447	0.97275	0.88872	0.49013	D	AEFBI	0.589489	0.58635	D	0.820699622953326	0.87382	9.198858	0.799679001813555	0.89771	10.11432	0.999999929587101	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	5.91	0.95240	4.562000	0.60528	11.813000	0.96995	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.786	0.78072	788	0.46569	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	877.33	35	chr9	37708413	.	G	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.656;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.884;SOR=0.749	GT:AD:DP:GQ:PL	0/1:20,35:55:99:891,0,477	18	0	1	0
chr9	38395856	38395856	C	G	exonic	ALDH1B1	.	stopgain	ALDH1B1:NM_000692:exon2:c.C108G:p.Y36X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000630	0.42799	D	0.101013	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.705	0.70878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507418	0.94509	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.865822	0.96938	36	0.99256916445654253	0.57088	0.89573	0.50124	D	AEFGBCI	0.176890	0.30411	N	0.488620443827627	0.66425	4.948339	0.298873158617955	0.55472	3.710392	0.999883149843766	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.81	2.57	0.29928	1.239000	0.32322	0.054000	0.14040	0.599000	0.40250	0.982000	0.35529	0.385000	0.24635	0.694000	0.33958	0.0:0.7437:0.0:0.2563	10.204	0.42280	845	0.36510	.;.	.	.	.	.	.	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	2089.33	36	chr9	38395856	.	C	G	2089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=812;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.288;SOR=0.581	GT:AD:DP:GQ:PL	0/1:84,82:166:99:2103,0,2112	18	0	1	0
chr9	41998470	41998470	C	G	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon5:c.G673C:p.E225Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780869426	4.04e-05	6.02e-05	4.36e-05	3.716e-05	0.0003	3.182e-05	2.913e-05	6.105e-05	3.29e-05	0	2.242e-05	0	0	0	0.0003	4.68e-05	6.629e-05	0	6.579e-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	0.01	0.56456	D	0.011	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.35	0.80035	T	-2.4	0.52776	N	0.095	0.11912	.	.	.	.	.	.	.	0.25722504	0.43136	T	.	.	.	.	.	.	.	0.393471546983	0.38961	0.3467326279019942	0.34587	.	.	0.465151190758	0.34015	T	0.216579	0.57878	T	0.263282	0.79830	D	0.14041	0.79571	D	.	.	.	0.827517	0.54988	T	0.109958924	0.25994	0.27821928	0.53781	0.109958924	0.25994	0.27821928	0.53780	-9.396	0.70210	D	.	.	0.101	0.19839	B	.;.;.;.;.	.;.;.;.;.	3.372848	0.46622	22.3	0.80593893609186251	0.13277	0.58173	0.30571	D	AEFI	.	.	.	.	.	.	.	.	.	1.86574744467249E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.114772	0.24080	1.77	-0.405	0.11775	0.972000	0.29007	1.282000	0.25358	0.267000	0.18475	0.934000	0.32416	0.001000	0.17328	0.970000	0.54328	0.0:0.6151:0.0:0.3849	5.434	0.15768	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	536.33	34	chr9	41998470	.	C	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=824;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.76;MQRankSum=-2.076;QD=2.6;ReadPosRankSum=-0.192;SOR=0.561	GT:AD:DP:GQ:PL	0/1:161,45:206:99:550,0,3772	18	0	1	0
chr9	41998524	41998524	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon5:c.G619A:p.V207I	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs766280999	3.649e-05	6.02e-05	3.838e-05	3.458e-05	0.0003	2.846e-05	2.581e-05	6.129e-05	2.854e-05	3.05e-05	2.257e-05	0	0	0	0.0003	4.163e-05	5.004e-05	0	0	1.319e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.229	0.18371	T	0.357	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.24	0.78967	T	-0.45	0.14782	N	0.072	0.12913	.	.	.	.	.	.	.	0.10801202	0.20088	T	.	.	.	.	.	.	.	0.239305524855	0.23518	0.10311275505436213	0.10241	.	.	0.503315746784	0.39290	T	0.004101	0.03512	T	0.194912	0.73417	D	0.042201	0.73071	D	.	.	.	0.518948	0.24174	T	0.029005947	0.02327	0.089275785	0.20868	0.029005947	0.02326	0.089275785	0.20867	-5.855	0.45050	T	.	.	0.066	0.02285	B	.;.;.;.;.	.;.;.;.;.	-0.753750	0.01202	0.059	0.48573003093790629	0.04065	0.08093	0.14063	N	AEFI	.	.	.	.	.	.	.	.	.	1.97562157601626E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0852691	0.19417	1.77	-2.15	0.06705	0.136000	0.15794	-20.000000	0.00162	-1.956000	0.00480	0.006000	0.17386	0.000000	0.08366	0.070000	0.16646	0.0:0.5499:0.0:0.4501	6.577	0.21771	994	0.00715	Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	415.33	34	chr9	41998524	.	C	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.936;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.39;MQRankSum=-1.021;QD=3.12;ReadPosRankSum=-0.861;SOR=0.642	GT:AD:DP:GQ:PL	0/1:104,29:133:99:429,0,2741	18	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1538	307.01	78	chr9	86018822	.	G	C	307.01	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.648;DP=1347;ExcessHet=0.7564;FS=158.178;InbreedingCoeff=-0.2266;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.93;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,25:70:76:.:.:76,0,571:.	9	0	4	6
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	0/1:234,142:386:99:425,0,4029	1	0	18	0
chr9	95150025	95150025	T	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon7:c.A584T:p.D195V,FANCC:NM_001243743:exon7:c.A584T:p.D195V,FANCC:NM_001243744:exon7:c.A584T:p.D195V	Fanconi anemia, complementation group C, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	138044	not_provided|Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|not_specified|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0032	0.00259585	0.0031	0.0007	0.0019	0	0.0002	0.0042	0.0023	0.0037	0.0030271	468	154602	rs1800365	0.0041	0.0041	0.0040	0.0041	0.0050	0.0040	0.0039	0.0044	0.0044	0.0008	0.0028	0.0031	2.519e-05	0.0005	0.0050	0.0045	0.0051	0.0034	0.0029	0.0029	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0032	0.0035	0	0.0008	0.0068	0.0047	0.0038	0.0023	0.004	0.65419	D	0.002	0.79402	D	0.992	0.64738	D	0.971	0.72444	D	0.000168	0.48594	D	0.175698	0.999999	0.58761	D	2.395	0.69210	M	0.43	0.56772	T	-5.58	0.86450	D	0.83	0.82559	-0.5256	0.67707	T	0.231	0.59719	T	10	0.027212769	0.00872	T	.	.	.	0.417	0.72705	.	.	0.869862672899	0.86860	0.4933194370742633	0.49252	0.402927746685	0.41237	0.38103300333	0.22403	T	0.508738	0.82589	D	-0.186631	0.22754	T	-0.0371334	0.67894	D	0.028442771770713	0.01753	T	0.893711	0.71716	D	0.4535079	0.64263	0.3693059	0.62203	0.43107343	0.62823	0.41695112	0.65764	-4.396	0.29503	T	0.7128875341775482	0.79330	0.269	0.50334	B	.;.;.	.;.;.	3.822049	0.55193	23.6	0.99328517196819688	0.59661	0.87078	0.46511	D	AEFI	0.471210	0.51685	N	0.491382671950936	0.66584	4.969212	0.405209269013319	0.61888	4.395473	0.999794922023249	0.43153	0.638212	0.43195	0	0.653731	0.59785	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.77	4.77	0.60425	4.533000	0.60328	5.887000	0.50713	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.174000	0.21107	0.0:0.0:0.0:1.0	12.202	0.53640	167	0.93508	.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.011364	0.02632	1985.33	35	chr9	95150025	.	T	A	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.58;SOR=0.7	GT:AD:DP:GQ:PL	0/1:74,83:157:99:1999,0,1781	18	0	1	0
chr9	95972987	95972987	A	G	exonic	ERCC6L2	.	nonsynonymous SNV	ERCC6L2:NM_001375291:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375292:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375293:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375294:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_020207:exon16:c.A3236G:p.N1079S	Bone marrow failure syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2004032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.000857937894059	.	.	2.442e-05	0	0	0.0004	0	0	0	0	6.5e-06	1	154602	rs776307162	5.014e-06	4.104e-06	1.651e-06	8.462e-06	0.0001	1.8e-06	1.19e-06	2.13e-05	8.59e-06	0	0	0	0.0001	0	0	3.177e-06	0	1.251e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1581.33	34	chr9	95972987	.	A	G	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.107;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=1;SOR=0.675	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1595,0,1142	18	0	1	0
chr9	96938649	96938649	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.C1726T:p.R576W	.	.	.	.	.	.	.	.	.	.	.	3352633	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000673097079306	.	.	2.57e-05	0	8.737e-05	0.0003	0	0	0	0	6.5e-06	1	154602	rs746492002	2.332e-05	2.394e-05	2.457e-05	2.206e-05	0.0008	1.679e-05	1.481e-05	0.0005	0.0005	0	4.478e-05	0	0.0008	0	0	1.799e-06	0	1.166e-05	1.376e-05	2.658e-05	1.343e-05	1.411e-05	2.76e-05	2.29e-06	8.6e-07	.	.	2.76e-05	0	0	0	0	0	0	1.472e-05	0	0	0.115	0.28520	T	0.04	0.50809	D	.	.	.	.	.	.	0.001209	0.00754	N	3.662470	1	0.08975	N	1.89	0.50145	L	2.69	0.12268	T	-1.4	0.34596	N	0.126	0.11912	-1.0042	0.28696	T	0.042	0.18243	T	8	0.10288501	0.18883	T	6.73E-4	0.00383	T	0.038	0.09825	0.233	0.16155	0.0611884634855	0.05136	0.06637109803591172	0.06575	.	.	0.458318591118	0.33080	T	0.005788	0.05238	T	-0.533426	0.00367	T	-0.707813	0.05409	T	0.0919737008652168	0.11449	T	0.40156	0.10241	T	0.05277036	0.09890	0.03387095	0.02356	0.05277036	0.09890	0.03387095	0.02356	-5.354	0.40474	T	.	.	0.071	0.04002	B	.	.	1.503111	0.19320	14.20	0.92167075168004686	0.21531	0.00254	0.01397	N	AEFDGI	0.047319	0.07954	N	-0.685482654150287	0.16435	0.8373123	-0.9120882072202	0.11808	0.6038563	5.93015779520183E-5	0.04171	0.475973	0.10046	0	0.550933	0.16991	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	0.845	0.845	0.18089	-0.457000	0.06821	-20.000000	0.00162	0.408000	0.20627	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	5.089	0.14033	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2667.33	42	chr9	96938649	.	C	T	2667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=935;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.61;MQRankSum=0.83;QD=13.2;ReadPosRankSum=-1.222;SOR=0.566	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2681,0,2213	18	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	69.14	116	chr9	99218703	.	C	T	69.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.286;DP=1530;ExcessHet=0.119;FS=143.279;InbreedingCoeff=-0.105;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.665;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,14:116:9:0|1:99218703_C_T:9,0,3301:99218703	14	0	2	3
chr9	105604227	105604227	C	T	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_001351498:exon5:c.C382T:p.R128W,FKTN:NM_006731:exon5:c.C382T:p.R128W,FKTN:NM_001079802:exon6:c.C382T:p.R128W,FKTN:NM_001198963:exon6:c.C382T:p.R128W,FKTN:NM_001351496:exon7:c.C382T:p.R128W,FKTN:NM_001351497:exon8:c.C313T:p.R105W	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	258525	Walker-Warburg_congenital_muscular_dystrophy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0333464837821	.	.	4.945e-05	0	8.663e-05	0	0	5.995e-05	0	6.057e-05	3.88e-05	6	154602	rs767026996	2.123e-05	2.189e-05	9.54e-06	3.304e-05	0.0001	1.522e-05	1.326e-05	8.003e-05	6.241e-05	2.992e-05	2.236e-05	0	0	0	0	1.079e-05	8.301e-05	0.0001	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.079	0.42086	T	0.001	0.07471	B	0.0	0.01387	B	0.704993	0.10062	N	0.878706	0.995922	0.42925	D	0.695	0.17993	N	-2.46	0.91019	D	-1.89	0.62151	N	0.418	0.46742	-0.3411	0.73812	T	0.513	0.81714	D	10	0.2543642	0.42814	T	0.033346	0.54917	D	0.379	0.69696	0.445	0.50302	0.806406756828	0.80459	0.6168817100914664	0.61620	0.161743901965	0.18254	0.23783737421	0.02599	T	0.314321	0.68601	T	-0.0625101	0.42515	T	-0.14604	0.59592	T	0.0385499353610001	0.03430	T	0.836416	0.50788	T	0.054137107	0.10346	0.06881928	0.14421	0.054137107	0.10346	0.06881928	0.14420	-7.321	0.56345	T	0.20868239779575906	0.27919	0.067	0.09094	B	.;.;.;.	.;.;.;.	3.417184	0.47432	22.5	0.99555713625536346	0.71459	0.91617	0.53903	D	AEFBI	0.459827	0.51027	N	-0.258168337079731	0.30778	1.719401	-0.074357186268741	0.36454	2.121693	0.0232074840961546	0.13490	0.706548	0.73137	0	0.546412	0.12157	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.07	4.17	0.48303	2.347000	0.43692	1.063000	0.23738	0.599000	0.40250	0.978000	0.35038	0.500000	0.25199	0.960000	0.51673	0.1624:0.7548:0.0:0.0829	8.439	0.31967	956	0.09877	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	5790.81	33	chr9	105604227	.	C	T	5790.81	.	AC=2;AF=0.053;AN=38;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.88;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5818,499,0	18	1	0	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|1:77,32:109:99:0|1:106974250_T_C:383,0,1316:106974250	11	0	6	2
chr9	106974252	106974252	G	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216C:p.D1406H,ZNF462:NM_021224:exon9:c.G6811C:p.D2271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0471795829052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.39	0.05710	T	-1.36	0.61580	N	0.875	0.89353	-0.8337	0.53061	T	0.231	0.59645	T	10	0.49586242	0.61262	T	0.04718	0.62801	D	0.360	0.68052	0.394	0.41935	0.147330786459	0.14319	0.7743925162910649	0.77389	1.96447962958	0.93503	0.92381799221	0.98600	D	0.018404	0.22976	T	0.19969	0.73863	D	0.0490645	0.73522	D	0.889481544494629	0.54020	D	0.967503	0.88224	D	0.23358797	0.46165	0.23072106	0.48183	0.23358797	0.46165	0.23072106	0.48182	-14.055	0.93275	D	.	.	0.999	0.98631	P	.;.;.	.;.;.	5.292259	0.88853	29.8	0.99610339763523792	0.74753	0.99345	0.94800	D	AEFBI	0.908733	0.86444	D	0.450547442356911	0.64232	4.673381	0.56578814992134	0.72504	5.820091	0.999999999998965	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	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	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	.	.	.	.	.	.	.	.	0.02632	861.73	45	chr9	106974252	.	G	C	861.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.021;DP=1244;ExcessHet=0.3672;FS=197.718;InbreedingCoeff=-0.09;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.32;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,21:105:54:0|1:106974250_T_C:54,0,2796:106974250	18	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N,RGS3:NM_001322215:exon2:c.C440A:p.T147N,RGS3:NM_001282922:exon3:c.C386A:p.T129N,RGS3:NM_001351526:exon4:c.C386A:p.T129N,RGS3:NM_130795:exon11:c.C1580A:p.T527N,RGS3:NM_001282923:exon18:c.C2093A:p.T698N,RGS3:NM_144488:exon21:c.C2423A:p.T808N	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.05263	4966.81	34	chr9	113583835	.	C	A	4966.81	.	AC=2;AF=0.053;AN=38;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.04;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4994,465,0	18	1	0	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	0/1:160,45:205:99:.:.:304,0,3153:.	4	0	13	2
chr9	121774282	121774282	A	G	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon11:c.A2618G:p.N873S,DAB2IP:NM_032552:exon13:c.A2906G:p.N969S	.	405	1106	11	0	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00297915620576	0.0013	0.00119808	0.0015	0.0007	0.0004	0	0	0.0009	0.0047	0.0064	0.0012225	189	154602	rs143836788	0.0011	0.0011	0.0009	0.0013	0.0053	0.0011	0.0010	0.0049	0.0048	0.0001	0.0006	0	2.53e-05	0.0002	0.0028	0.0009	0.0011	0.0053	0.0008	0.0008	0.0009	0.0008	0.0042	0.0007	0.0007	0.0028	0.0023	0.0003	0	0.0005	0	0	9.459e-05	0.0103	0.0012	0.0005	0.0042	0.852	0.02958	T	1.0	0.01155	T	0.021	0.18474	B	0.031	0.21939	B	0.000000	0.84330	D	0.045993	0.999527	0.47407	D	-0.22	0.03977	N	3.31	0.06291	T	0.91	0.02368	N	0.239	0.29197	-1.0198	0.23780	T	0.010	0.03673	T	10	0.0077979863	0.00177	T	0.002979	0.06369	T	0.151	0.39764	.	.	0.43068463968	0.42687	0.39285833601891457	0.39200	0.125945359065	0.14199	0.617999732494	0.55446	T	0.03052	0.21617	T	-0.613713	0.00120	T	-0.652137	0.08805	T	0.0402202807168751	0.03731	T	0.845015	0.53551	T	0.09321113	0.21886	0.11964252	0.28876	0.09321113	0.21886	0.11964252	0.28875	0.624	0.00232	T	.	.	0.054	0.01143	B	.;.;.;.;.	.;.;.;.;.	3.098046	0.41745	21.4	0.33667180579527523	0.02018	0.81812	0.41142	D	AEFGBI	0.322074	0.42468	N	-0.392035409302794	0.25752	1.400282	-0.136406369909481	0.33935	1.946545	0.999999930379924	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	3.788000	0.55151	11.065000	0.85497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.443	0.66909	976	0.04745	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.02632	1209.33	35	chr9	121774282	.	A	G	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.466;DP=766;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.463;SOR=0.57	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1223,0,1909	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,43:342:99:0|1:122724732_T_C:795,0,12281:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,33:328:99:0|1:122724732_T_C:498,0,12266:122724732	4	0	12	3
chr9	122789686	122789686	G	A	exonic	OR5C1	.	nonsynonymous SNV	OR5C1:NM_001001923:exon1:c.G754A:p.V252M	.	436	1063	22	1	0	24	0.0111628	.	.	.	2826378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.00517600757222	0.0013	0.00199681	0.0017	0.0007	0.0015	0	0.0002	0.0021	0.0081	0.0020	0.0017205	266	154602	rs146508500	0.0017	0.0017	0.0016	0.0018	0.0233	0.0016	0.0016	0.0200	0.0188	0.0004	0.0017	0.0078	2.523e-05	0.0002	0.0233	0.0015	0.0029	0.0019	0.0016	0.0016	0.0018	0.0014	0.0029	0.0014	0.0014	0.0022	0.0020	0.0004	0	0.0029	0.0072	0	0	0.0068	0.0020	0.0047	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.005339	0.32892	U	0.000000	0.625033	0.32739	D	3.885	0.96017	H	7.81	0.00336	T	-2.73	0.58085	D	0.653	0.66358	-1.0661	0.10293	T	0.006	0.01907	T	10	0.025064677	0.00712	T	0.005176	0.13156	T	0.171	0.43483	.	.	0.776756999272	0.77470	0.2595692646264842	0.25870	0.499129830717	0.48365	0.362951487303	0.19815	T	0.107231	0.41927	T	-0.321699	0.06759	T	-0.241042	0.50697	T	0.0987876096057365	0.12224	T	0.89551	0.63622	D	0.43727034	0.63226	0.46495244	0.68948	0.43727034	0.63227	0.46495244	0.68948	-8.41	0.63831	D	.	.	0.220	0.44999	B	.	.	4.386618	0.67666	25.1	0.99890436592550524	0.96436	0.91729	0.54139	D	AEFDBI	0.336484	0.43458	N	0.829915139401323	0.87936	9.394158	0.729575094318887	0.84622	8.344186	0.999772297159783	0.42865	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	3.041000	0.49496	5.572000	0.48946	0.656000	0.54149	0.999000	0.42656	1.000000	0.68203	0.577000	0.30821	0.0:0.0:1.0:0.0	18.253	0.89947	917	0.20147	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	0	0	1	0	0.021652	0.010101	0.023098	0.046784	0.000000	0.051724	0.015244	0.015152	0.05263	5111.83	34	chr9	122789686	.	G	A	5111.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=959;ExcessHet=0.119;FS=1.256;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.2;SOR=0.622	GT:AD:DP:GQ:PL	0/1:85,102:187:99:2809,0,2199	17	0	2	0
chr9	127707145	127707145	G	T	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114T:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0140273232826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.2047346	0.36675	T	0.014027	0.33868	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839400874069591	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280822	0.10581	T	-0.641158	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.619651	0.34042	19.52	0.99634342227389694	0.76264	0.25709	0.22779	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	726.55	34	chr9	127707145	.	G	T	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13:76:99:0|1:127707145_G_T:158,0,1852:127707145	17	0	2	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13:76:99:0|1:127707145_G_T:158,0,1852:127707145	5	0	12	2
chr9	131087540	131087540	A	G	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon26:c.A4295G:p.Q1432R	Cortical malformations, occipital, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	2791127	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0228329054179	.	.	9.917e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs751401254	4.79e-05	4.788e-05	2.587e-05	7.015e-05	0.0007	3.861e-05	3.541e-05	0.0006	0.0005	0	0	0	0	0	0.0002	2.698e-06	3.312e-05	0.0007	1.97e-05	1.97e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.973e-05	0	0	0	0	0	0	0	0	0	0.0006	0.245	0.17410	T	0.463	0.12491	T	0.003	0.11197	B	0.005	0.11217	B	0.057554	0.22472	N	0.458283	0.966865	0.25874	N	1.95	0.52479	M	1.7	0.26885	T	-0.95	0.25332	N	0.096	0.07673	-0.9616	0.38877	T	0.144	0.46714	T	10	0.046963573	0.03953	T	0.022833	0.45752	T	0.132	0.35948	0.353	0.35246	0.481543764896	0.47786	0.2402164167641633	0.23935	0.159575760648	0.18006	0.334165811539	0.15562	T	0.034549	0.23366	T	-0.34024	0.05371	T	-0.362345	0.37780	T	0.17233818769455	0.18738	T	0.561144	0.19645	T	0.07178421	0.15919	0.107718244	0.25935	0.07178421	0.15919	0.107718244	0.25934	-3.774	0.20417	T	.	.	0.069	0.03093	B	.	.	1.439655	0.18589	13.82	0.98861633149558659	0.47476	0.65178	0.32651	D	AEFDBCI	0.422314	0.48837	N	0.0926493916177118	0.46121	2.857394	0.0931287792196824	0.44203	2.706564	0.999999849700661	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	3.646000	0.54137	5.319000	0.48286	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.325	0.42972	366	0.84579	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	972.33	34	chr9	131087540	.	A	G	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.071;DP=1158;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.055;SOR=0.804	GT:AD:DP:GQ:PL	0/1:61,41:102:99:986,0,1814	18	0	1	0
chr9	137031666	137031666	C	T	exonic	FUT7	.	nonsynonymous SNV	FUT7:NM_004479:exon2:c.G73A:p.A25T	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00932991516747	.	.	5.744e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs752391686	1.072e-05	1.163e-05	1.411e-05	7.239e-06	1.295e-05	6.44e-06	5.1e-06	7.51e-06	5.88e-06	0	0	0	0	0	0	1.295e-05	1.725e-05	0	6.572e-06	6.566e-06	1.285e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.561	0.06361	T	0.772	0.04446	T	0.0	0.02946	B	0.0	0.01387	B	0.000212	0.00519	U	14.105400	1	0.08975	N	0.625	0.15840	N	1.73	0.26445	T	0.57	0.02638	N	0.091	0.06990	-1.0332	0.19427	T	0.021	0.08686	T	10	0.043473005	0.03200	T	0.00933	0.24483	T	0.043	0.11576	0.612	0.74535	0.262679179196	0.25893	0.5135662454098043	0.51278	0.290875137711	0.31494	0.491239309311	0.37610	T	0.026993	0.19862	T	-0.369186	0.03635	T	-0.768086	0.02832	T	0.0255135472929815	0.01340	T	0.284972	0.05045	T	0.024384191	0.01265	0.04999692	0.07757	0.024384191	0.01265	0.04999692	0.07756	-5.151	0.38439	T	.	.	0.081	0.08465	B	.	.	-1.447913	0.00328	0.006	0.90761095140074211	0.20010	0.00148	0.00897	N	AEFGBI	0.043302	0.06830	N	-1.95543420203551	0.00263	0.01129239	-2.0470224182354	0.00243	0.01070335	0.999999998606527	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	-9.52	0.00487	-3.684000	0.00442	-3.563000	0.02693	-1.080000	0.01570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1141:0.178:0.082:0.6259	4.673	0.12082	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	927.33	35	chr9	137031666	.	C	T	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=721;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.163;SOR=1.248	GT:AD:DP:GQ:PL	0/1:36,36:72:99:941,0,823	18	0	1	0
chr9	137373511	137373511	C	T	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_001286823:exon4:c.G209A:p.R70Q,EXD3:NM_017820:exon4:c.G209A:p.R70Q	.	408	1113	1	0	0	1	0.000449035	.	.	.	3438545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0237226216258	0.0002	0.000199681	0.0006	0.0002	0.0007	0	0	0.0004	0.0036	0.0015	0.000414	64	154602	rs200718958	0.0005	0.0005	0.0005	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	0.0001	0.0005	0	0	3.89e-05	0.0011	0.0005	0.0003	0.0010	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0003	0	0	9.409e-05	0	0.0003	0.0005	0.0014	0.354	0.15354	T	0.423	0.19016	T	0.009	0.31472	B	0.002	0.17743	B	0.001411	0.39109	N	0.243624	1	0.08975	N	0.69	0.16971	N	0.64	0.52867	T	-0.39	0.24676	N	0.101	0.08366	-1.0647	0.10619	T	0.051	0.21767	T	10	0.0079678	0.00181	T	0.023723	0.46692	T	0.017	0.02790	.	.	0.168933306366	0.16529	0.1883901063049497	0.18757	0.0603172951113	0.06703	0.299348950386	0.10303	T	0.001831	0.01251	T	-0.609923	0.00127	T	-0.69444	0.06135	T	0.0158672478100785	0.00372	T	0.756624	0.37993	T	0.019747952	0.00512	0.022761233	0.00295	0.019747952	0.00512	0.022761233	0.00295	-4.391	0.29435	T	.	.	0.079	0.10835	B	.;.	.;.	0.196669	0.05823	2.262	0.96162025539783935	0.28902	0.00782	0.03209	N	AEFDGBI	0.038918	0.05578	N	-1.02193419960771	0.08150	0.3811147	-1.04686715443177	0.08772	0.4329552	0.988098521994974	0.31417	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.31	0.148	0.14137	-0.133000	0.10430	-6.868000	0.01286	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3674:0.0:0.6326	6.051	0.19012	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	0.001520	0.005263	0.001370	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	898.33	33	chr9	137373511	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=712;ExcessHet=0;FS=5.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.357;SOR=0.777	GT:AD:DP:GQ:PL	0/1:29,30:59:99:912,0,638	18	0	1	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	0/1:97,32:129:99:240,0,1805	2	0	17	0
chr10	1363689	1363689	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.G416A:p.G139D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.0630801424504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.378e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.047	0.48855	D	0.733	0.42736	P	0.697	0.54061	P	0.000067	0.52346	N	0.201187	0.999999	0.58761	D	1.755	0.45626	L	-1.01	0.76168	T	-5.61	0.86686	D	0.488	0.52208	-0.1447	0.79049	T	0.456	0.78814	T	10	0.47647014	0.60173	T	0.06308	0.68856	D	0.531	0.80247	0.526	0.63115	0.492909346147	0.48925	0.6571295275684129	0.65649	1.45200276733	0.86181	0.65917289257	0.61290	T	0.299865	0.67238	T	0.0443498	0.57612	T	-0.174071	0.57071	T	0.989193022251129	0.79445	D	0.90401	0.66351	D	0.48050758	0.65931	0.45255473	0.68156	0.48050758	0.65932	0.45255473	0.68156	-13.504	0.91332	D	.	.	0.411	0.60177	A	.	.	4.139662	0.62006	24.4	0.99813203878151313	0.89708	0.85521	0.44662	D	AEFBCI	0.618316	0.60417	D	0.358054101522607	0.59167	4.093821	0.376447239145124	0.60115	4.195748	0.987503739046566	0.31281	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.14	4.24	0.49486	4.874000	0.62758	5.954000	0.51702	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8459:0.0:0.1541	10.062	0.41455	934	0.15400	Double-stranded RNA-binding domain|Double-stranded RNA-binding domain|Double-stranded RNA-binding domain|Double-stranded 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	.	.	.	.	.	.	.	.	0.02632	2157.33	33	chr10	1363689	.	C	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=869;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.539;SOR=0.794	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2171,0,2072	18	0	1	0
chr10	3140811	3140811	G	A	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon21:c.C2353T:p.L785F,PITRM1:NM_001347725:exon22:c.C2449T:p.L817F,PITRM1:NM_001347726:exon22:c.C1834T:p.L612F,PITRM1:NM_001347730:exon22:c.C2425T:p.L809F,PITRM1:NM_001242307:exon24:c.C2650T:p.L884F,PITRM1:NM_001347727:exon24:c.C2032T:p.L678F,PITRM1:NM_001347728:exon24:c.C1342T:p.L448F,PITRM1:NM_001347729:exon24:c.C2623T:p.L875F,PITRM1:NM_014889:exon24:c.C2647T:p.L883F	.	434	1085	3	0	0	3	0.00138058	0.6828	0.536	.	672079	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.523	.	0.0072	0.00419329	0.0120	0.0016	0.0108	0	0.0290	0.0174	0.0114	0.0025	0.0061189	946	154602	rs71477812	0.0084	0.0085	0.0087	0.0081	0.0089	0.0083	0.0082	0.0087	0.0086	0.0012	0.0064	0.0131	0	0.0190	0.0058	0.0089	0.0092	0.0019	0.0073	0.0073	0.0069	0.0076	0.0097	0.0069	0.0068	0.0090	0.0088	0.0015	0.0033	0.0077	0.0127	0.0002	0.0176	0.0170	0.0097	0.0085	0.0021	0.009	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.66	0.94269	H	0.97	0.42502	T	-3.79	0.71639	D	0.792	0.84401	-0.3594	0.73281	T	0.213	0.57334	T	10	0.008331448	0.00189	T	.	.	.	0.523	0.79765	.	.	0.683458661421	0.68076	0.8327730679768833	0.83236	0.339464585758	0.35895	0.579679191113	0.50040	T	0.086308	0.44555	T	-0.0464113	0.44989	T	0.171588	0.81504	D	0.050278209372327	0.05550	T	0.937606	0.76517	D	0.7829275	0.82834	0.75733316	0.85660	0.7829275	0.82836	0.75733316	0.85661	-11.318	0.81495	D	.	.	0.409	0.72034	A	.;.;.;.;.	.;.;.;.;.	4.621916	0.73395	26.0	0.99852956060718423	0.93191	0.93696	0.58930	D	AEFBCI	0.846966	0.76383	D	0.719201602175365	0.80892	7.395948	0.606618945938249	0.75419	6.307288	0.999988590574643	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	7.380000	0.78983	11.661000	0.93987	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	19.220	0.93778	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	rs71477812	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	0.012170	0.031250	0.014986	0.002924	0.000000	0.000000	0.006135	0.007634	0.02632	833.33	34	chr10	3140811	.	G	A	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.651;DP=686;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.937;SOR=0.37	GT:AD:DP:GQ:PL	0/1:32,34:66:99:847,0,789	18	0	1	0
chr10	7248643	7248643	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon8:c.G877A:p.A293T,SFMBT2:NM_001029880:exon8:c.G877A:p.A293T	.	430	1049	41	2	0	45	0.0209986	.	.	.	724060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0035	0.00459265	0.0053	0.0016	0.0017	0	0.0006	0.0048	0.0078	0.0171	0.0049547	766	154602	rs117741182	0.0036	0.0036	0.0031	0.0041	0.0174	0.0035	0.0035	0.0166	0.0163	0.0008	0.0018	0.0051	2.519e-05	0.0006	0.0168	0.0028	0.0043	0.0174	0.0027	0.0027	0.0025	0.0028	0.0164	0.0025	0.0024	0.0135	0.0124	0.0006	0.0011	0.0020	0.0058	0	0.0005	0.0136	0.0034	0.0038	0.0164	0.421	0.09806	T	0.429	0.13752	T	0.993	0.65571	D	0.889	0.63100	P	0.263242	0.03723	N	1.458410	1	0.81001	D	2.25	0.63811	M	0.92	0.44461	T	-0.81	0.22294	N	0.62	0.63544	-0.8181	0.54053	T	0.206	0.56512	T	10	0.0093427	0.00211	T	.	.	.	0.237	0.54074	.	.	0.193917141947	0.19028	0.3119682848669579	0.31109	0.580245724104	0.53879	0.460799157619	0.33420	T	0.012519	0.10987	T	-0.328422	0.06231	T	-0.230906	0.51684	T	0.0225845717062435	0.00975	T	0.778122	0.41194	T	0.1463249	0.33502	0.096215524	0.22852	0.1463249	0.33502	0.096215524	0.22851	-5.141	0.38336	T	.	.	0.086	0.10691	B	.;.	.;.	3.395496	0.47037	22.4	0.992965443619932	0.58469	0.85763	0.44932	D	AEFDBCI	0.658062	0.62947	D	0.506294479907282	0.67460	5.084768	0.497719078246809	0.67837	5.13802	0.999999940766446	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	4.043000	0.57065	4.877000	0.45627	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.184	0.93622	944	0.12746	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.015152	0.012228	0.008772	0.000000	0.043103	0.018293	0.007576	0.02632	823.33	34	chr10	7248643	.	C	T	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=732;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=0.972;SOR=0.573	GT:AD:DP:GQ:PL	0/1:66,39:105:99:837,0,1558	18	0	1	0
chr10	17071457	17071457	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.G2594A:p.S865N	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	259935	not_provided|Imerslund-Grasbeck_syndrome|not_specified|Imerslund-Grasbeck_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:CN169374|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00319489	0.0075	0.0017	0.0018	0	0.0058	0.0113	0.0022	0.0042	0.0075225	1163	154602	rs138083522	0.0097	0.0097	0.0096	0.0098	0.0112	0.0096	0.0095	0.0110	0.0109	0.0016	0.0033	0.0091	0	0.0062	0.0066	0.0112	0.0086	0.0051	0.0073	0.0073	0.0076	0.0071	0.0123	0.0070	0.0068	0.0116	0.0113	0.0021	0.0296	0.0035	0.0072	0	0.0052	0.0034	0.0123	0.0085	0.0033	0.535	0.06913	T	0.579	0.08535	T	0.007	0.14184	B	0.006	0.12133	B	0.140464	0.18308	N	0.458452	1	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.38	0.03579	N	0.659	0.66873	-0.9833	0.34234	T	0.013	0.05129	T	10	0.0062994957	0.00142	T	.	.	.	0.062	0.17934	.	.	0.226586394389	0.22295	0.20347358920778352	0.20264	0.076962351002	0.08643	0.32478749752	0.14146	T	0.025731	0.19180	T	-0.74171	0.00020	T	-0.827161	0.01313	T	0.00110475637476235	0.00011	T	0.50225	0.15758	T	0.05099775	0.09301	0.06838942	0.14277	0.05099775	0.09300	0.06838942	0.14277	-3.209	0.12591	T	0.1740204019745255	0.22077	0.074	0.05060	B	.	.	-0.325975	0.02506	0.295	0.86535495772032101	0.16602	0.03089	0.08012	N	AEFBI	0.080154	0.16202	N	-1.07499693678541	0.07107	0.3291508	-1.05645910652824	0.08572	0.4221397	0.990266353850165	0.32094	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	-4.35	0.03402	-0.871000	0.04331	-2.571000	0.03595	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2171:0.6099:0.173	11.884	0.51869	864	0.32732	CUB domain|CUB domain|CUB domain|CUB 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	0.005035	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.011364	0.02632	2533.33	34	chr10	17071457	.	C	T	2533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=833;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.182;SOR=0.589	GT:AD:DP:GQ:PL	0/1:105,103:208:99:2547,0,2520	18	0	1	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3222.79	35	chr10	19280171	.	G	T	3222.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.813;DP=814;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.107;SOR=0.674	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1070,0,975	16	0	3	0
chr10	22003318	22003320	CAG	-	exonic	DNAJC1	.	nonframeshift deletion	DNAJC1:NM_022365:exon1:c.115_117del:p.L39del	.	289	1214	19	0	0	19	0.00776461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0334	.	0.0154	0.0036	0.0136	0.0077	0	0.0106	0.0244	0.0222	0.0018952	293	154602	rs751051022	0.0012	0.0098	0.0012	0.0013	0.0059	0.0012	0.0012	0.0052	0.0049	0.0015	0.0059	0.0023	0.0022	0.0013	0.0019	0.0008	0.0016	0.0040	1.975e-05	0.0003	1.288e-05	2.694e-05	6.555e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.555e-05	0	0	0	0	2.947e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022479	0.006024	0.019031	0.035433	0.000000	0.021277	0.011111	0.032407	0.02632	49.29	33	chr10	22003317	.	CCAG	C	49.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-2.923;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,4:36:63:63,0,1330	18	0	1	0
chr10	22003351	22003351	-	TG	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.83_84insCA:p.T29Rfs*31	.	291	1219	11	1	0	13	0.00530396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0026	0	0	0	0	0	0	0.0047	0.0001537	4	26028	rs575609970	0.0011	0.0011	0.0009	0.0014	0.0098	0.0011	0.0011	0.0091	0.0089	4.028e-05	0.0001	0	0	0.0007	0.0049	0.0007	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0097	0.0007	0.0006	0.0075	0.0067	0.0001	0	6.538e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	36	chr10	22003351	.	C	CTG	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=666;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.311;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:22003351_C_CTG:577,0,645:22003351	18	0	1	0
chr10	22003352	22003352	-	G	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.82dupC:p.R28Pfs*30	.	301	1208	11	1	1	14	0.005352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0	0	0	0	0	0	0.0068	0.0001921	5	26028	.	0.0011	0.0011	0.0009	0.0014	0.0101	0.0011	0.0011	0.0094	0.0091	4.053e-05	0.0001	0	0	0.0007	0.0050	0.0007	0.0014	0.0101	0.0008	0.0008	0.0006	0.0010	0.0095	0.0007	0.0006	0.0073	0.0066	0.0001	0	6.549e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	36	chr10	22003352	.	C	CG	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.398;DP=664;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.104;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:22003351_C_CTG:577,0,645:22003351	18	0	1	0
chr10	34470176	34470176	T	G	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184785:exon4:c.A491C:p.E164A,PARD3:NM_001184786:exon4:c.A491C:p.E164A,PARD3:NM_001184787:exon4:c.A491C:p.E164A,PARD3:NM_001184788:exon4:c.A491C:p.E164A,PARD3:NM_001184789:exon4:c.A491C:p.E164A,PARD3:NM_001184790:exon4:c.A491C:p.E164A,PARD3:NM_001184791:exon4:c.A491C:p.E164A,PARD3:NM_001184792:exon4:c.A491C:p.E164A,PARD3:NM_001184793:exon4:c.A491C:p.E164A,PARD3:NM_001184794:exon4:c.A491C:p.E164A,PARD3:NM_019619:exon4:c.A491C:p.E164A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0302866852499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.44694	T	0.189	0.28575	T	0.992	0.73220	D	0.984	0.76113	D	0.000027	0.55875	D	0.184671	1	0.81001	D	2.215	0.62545	M	2.61	0.42122	T	-2.86	0.60188	D	0.726	0.84817	-0.9305	0.44066	T	0.185	0.53481	T	10	0.5225124	0.62723	D	0.030287	0.52630	D	0.158	0.41098	0.187	0.09646	0.631326422863	0.62830	0.3927132581708436	0.39186	1.20826627468	0.80759	0.580970466137	0.50222	T	0.249732	0.61973	T	0.130317	0.67391	D	-0.050585	0.66982	D	0.986534774303436	0.77228	D	0.956938	0.83632	D	0.17524262	0.38373	0.16177857	0.37612	0.17524262	0.38372	0.16177857	0.37611	-6.17	0.51607	T	.	.	0.172	0.46436	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.021927	0.59410	24.1	0.99392883324335746	0.62428	0.97414	0.74598	D	AEFBI	0.663791	0.63318	D	0.402713287238605	0.61572	4.360083	0.470943435794461	0.66072	4.904789	0.999999999995731	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.179000	0.77209	7.813000	0.69496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.0:1.0	16.227	0.82122	888	0.27761	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	910.33	33	chr10	34470176	.	T	G	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=705;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.96;SOR=0.85	GT:AD:DP:GQ:PL	0/1:40,39:79:99:924,0,1033	18	0	1	0
chr10	45847150	45847150	G	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_001276343:exon1:c.C198G:p.H66Q,AGAP4:NM_133446:exon1:c.C198G:p.H66Q	.	399	1121	2	0	0	2	0.000891266	.	.	.	3256888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.0181275424575	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201098582	0.0003	0.0005	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	5.981e-05	0.0003	0.0006	0.0007	2.43e-05	0.0004	0.0002	0.0003	0.0008	0.0006	0.0007	0.0006	0.0006	0.0024	0.0005	0.0005	0.0014	0.0011	0.0003	0	0.0006	0.0009	0.0024	9.515e-05	0	0.0006	0	0.0023	0.282	0.15406	T	0.133	0.34596	T	0.001	0.07471	B	0.0	0.01387	B	0.000612	0.42945	D	0.150823	0.999922	0.19486	N	1.925	0.51371	L	-2.44	0.88767	D	-0.87	0.23590	N	0.212	0.32481	-0.6543	0.62525	T	0.482	0.80205	T	10	0.07715994	0.12144	T	0.018128	0.40089	T	0.295	0.61502	0.4	0.42917	0.239901079897	0.23603	0.035652079000678995	0.03512	.	.	0.893662571907	0.95708	D	0.111871	0.42770	T	0.00767142	0.52708	T	-0.226757	0.52084	T	0.0266194587714375	0.01491	T	0.430757	0.11694	T	0.088900715	0.20753	0.058142744	0.10692	0.088900715	0.20753	0.058142744	0.10691	-2.905	0.09193	T	.	.	0.155	0.40570	B	.;.;.;.;.	.;.;.;.;.	3.069281	0.41247	21.3	0.51430986494781816	0.04561	0.58374	0.30625	D	AEFI	0.194315	0.32140	N	-0.570495400259629	0.19845	1.041847	-0.563679940213609	0.20443	1.101425	3.00438509087579E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	1.4	0.21393	1.780000	0.38264	2.536000	0.33191	0.331000	0.19555	0.998000	0.41325	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	6.247	0.20038	757	0.50970	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	295.33	39	chr10	45847150	.	G	C	295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=742;ExcessHet=0;FS=6.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.91;MQRankSum=-4.676;QD=5.27;ReadPosRankSum=-1.872;SOR=1.911	GT:AD:DP:GQ:PL	0/1:39,17:56:99:309,0,911	18	0	1	0
chr10	48913495	48913495	G	C	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.C661G:p.L221V,LRRC18:NM_001378102:exon3:c.C661G:p.L221V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.060322647362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.9	0.49598	P	0.353	0.42910	B	0.001071	0.40389	N	0.170747	0.995622	0.81001	D	3.155	0.88459	M	0.42	0.56937	T	-1.65	0.39503	N	0.461	0.49783	-0.7809	0.56252	T	0.197	0.55187	T	9	0.40820348	0.56040	T	0.060323	0.67963	D	0.269	0.58381	0.452	0.51448	0.705138454605	0.70257	0.68583599254304	0.68523	0.0214250169571	0.02126	0.53179359436	0.43288	T	0.018797	0.15093	T	0.0865489	0.62798	D	-0.113455	0.62336	T	0.82023298740387	0.47790	D	0.525947	0.17303	T	0.092512645	0.21705	0.0927388	0.21870	0.092512645	0.21705	0.0927388	0.21869	-4.063	0.24743	T	.	.	0.138	0.30184	B	.	.	1.470075	0.18941	14.01	0.98922085207808319	0.48583	0.97190	0.73220	D	AEFBI	0.685297	0.64735	D	0.181993926466972	0.50335	3.22446	0.154249766747953	0.47367	2.968052	0.0139026329257664	0.12526	0.497415	0.19182	0	0.446627	0.06534	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	3.95	0.44952	2.385000	0.44025	2.013000	0.30174	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1447:0.0:0.7169:0.1384	7.332	0.25762	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	.	.	.	.	.	.	.	.	0.02632	1949.33	37	chr10	48913495	.	G	C	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.307;DP=1356;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.937;SOR=0.726	GT:AD:DP:GQ:PL	0/1:95,102:197:99:1963,0,2370	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|1:98,29:127:99:0|1:50104141_G_C:290,0,3373:50104141	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|1:98,29:127:99:0|1:50104141_G_C:290,0,3373:50104141	11	0	6	2
chr10	70123442	70123442	T	A	exonic	AIFM2	.	nonsynonymous SNV	AIFM2:NM_001198696:exon3:c.A257T:p.D86V,AIFM2:NM_032797:exon3:c.A257T:p.D86V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0684591405726	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002393	37	154602	rs151032198	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0018	0.0017	0	4.472e-05	0	2.519e-05	1.872e-05	0.0007	5.845e-05	0.0003	0.0021	9.194e-05	9.187e-05	0.0001	8.058e-05	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	0	0	0	0	0	9.425e-05	0	0.0001	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.971	0.72444	D	0.000006	0.62929	D	0.140285	1	0.81001	D	2.865	0.83145	M	0.54	0.54911	T	-6.43	0.91311	D	0.908	0.91047	-0.4365	0.70846	T	0.305	0.67593	T	10	0.47165102	0.59898	T	0.068459	0.70457	D	0.598	0.84074	.	.	0.770801067495	0.76870	0.8356493000059243	0.83524	0.616023320025	0.56080	0.473914831877	0.35219	T	0.356156	0.72305	T	-0.0124231	0.49926	T	0.202115	0.83245	D	0.544160962104797	0.34259	D	0.844715	0.52235	T	0.89270604	0.90740	0.81104136	0.88966	0.89270604	0.90741	0.81104136	0.88967	-11.831	0.84018	D	.	.	0.642	0.70584	P	.;.;.	.;.;.	4.918971	0.81005	27.4	0.99405312663734824	0.63028	0.95437	0.64717	D	AEFDBCI	0.856139	0.77334	D	0.651649430783787	0.76475	6.493485	0.607231825383903	0.75462	6.315104	0.999999999939606	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	7.353000	0.78667	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.934	0.70586	312	0.87382	FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain;FAD/NAD(P)-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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1272.33	35	chr10	70123442	.	T	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=743;ExcessHet=0;FS=1.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.914;SOR=0.523	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1286,0,1466	18	0	1	0
chr10	70301500	70301500	C	T	exonic	LRRC20	.	nonsynonymous SNV	LRRC20:NM_001278213:exon4:c.G259A:p.V87M,LRRC20:NM_001278214:exon4:c.G202A:p.V68M,LRRC20:NM_018205:exon4:c.G241A:p.V81M,LRRC20:NM_018239:exon4:c.G259A:p.V87M,LRRC20:NM_001278211:exon5:c.G409A:p.V137M,LRRC20:NM_001278212:exon5:c.G409A:p.V137M,LRRC20:NM_207119:exon5:c.G409A:p.V137M	.	427	1089	6	0	0	6	0.00274725	.	.	.	2683839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0171255614551	.	.	4.132e-05	9.63e-05	0.0002	0.0001	0	0	0	6.122e-05	3.88e-05	6	154602	rs749433858	3.558e-05	3.557e-05	4.084e-05	3.026e-05	0.0002	2.763e-05	2.502e-05	2.986e-05	1.942e-05	8.961e-05	8.948e-05	0	5.038e-05	1.878e-05	0.0002	3.058e-05	4.969e-05	4.639e-05	4.598e-05	4.596e-05	2.569e-05	6.723e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	4.824e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.122	0.53172	T	0.011	0.65728	D	1.0	0.90584	D	0.995	0.83170	D	0.000208	0.47681	D	0.135865	0.99946	0.47157	D	1.02	0.25474	L	0.45	0.56446	T	-0.89	0.39314	N	0.355	0.40465	-0.8099	0.54556	T	0.232	0.59818	T	10	0.21212226	0.37662	T	0.017126	0.38702	T	0.063	0.18251	0.413	0.45052	0.607763699848	0.60461	0.3281543043309931	0.32728	0.66949931502	0.59350	0.608825147152	0.54149	T	0.024158	0.33501	T	-0.177053	0.24176	T	-0.266399	0.48183	T	0.405915558338165	0.29165	T	0.854814	0.56210	D	0.10351973	0.24467	0.11043776	0.26629	0.10351973	0.24467	0.11043776	0.26629	-5.823	0.48999	T	.	.	0.344	0.56145	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.454617	0.48119	22.6	0.9905643343919206	0.51367	0.83505	0.42618	D	AEFDGBI	0.400191	0.47517	N	0.227794912868134	0.52550	3.428473	0.348272554912369	0.58402	4.010642	0.999999747279061	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	2.720000	0.46921	4.746000	0.44633	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	15.001	0.71127	486	0.77016	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	898.33	38	chr10	70301500	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.482;SOR=0.782	GT:AD:DP:GQ:PL	0/1:48,39:87:99:912,0,1242	18	0	1	0
chr10	77001550	77001550	C	G	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001161352:exon19:c.G2123C:p.R708P	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0101311706805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77034142	2.858e-06	2.736e-06	1.41e-06	4.346e-06	2.781e-06	6.7e-07	4.5e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.781e-06	1.719e-05	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.187	0.21385	T	0.277	0.21880	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.805	0.20218	L	-1.77	0.83660	D	-1.89	0.44094	N	0.444	0.68342	-0.7194	0.59493	T	0.281	0.65340	T	9	0.26412445	0.43897	T	0.010131	0.26302	T	0.342	0.66392	0.361	0.36548	0.945070154208	0.94449	0.6561113936774371	0.65547	.	.	0.681922078133	0.64544	T	0.018155	0.47383	T	0.0657717	0.60330	T	-0.1433	0.59830	T	0.444336585129302	0.30589	T	0.980602	0.93381	D	0.24034247	0.46936	0.4205568	0.66015	0.24034247	0.46936	0.4205568	0.66015	-4.636	0.32621	T	.	.	0.347	0.59909	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.200181	0.63377	24.6	0.96610877481675284	0.30441	0.90854	0.52386	D	AEFBIJ	0.859554	0.77725	D	-0.0637667540057653	0.38991	2.292193	0.173529165535062	0.48400	3.05656	0.994688496924339	0.33752	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.93	4.97	0.65419	4.492000	0.60054	5.077000	0.47232	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2804:0.6303:0.0:0.0893	6.877	0.23335	482	0.77288	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1023.33	37	chr10	77001550	.	C	G	1023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=739;ExcessHet=0;FS=1.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.345;SOR=0.903	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1037,0,1583	18	0	1	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.02632	1328.33	34	chr10	87862043	.	A	T	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=746;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.423;SOR=0.828	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1342,0,1408	18	0	1	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.02632	1646.33	34	chr10	87862096	.	T	C	1646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=737;ExcessHet=0;FS=1.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.23;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,44:99:99:0|1:87862096_T_C:1660,0,2081:87862096	18	0	1	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.02632	1666.33	34	chr10	87862106	.	G	C	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.728;DP=737;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.424;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,45:99:99:0|1:87862096_T_C:1680,0,2068:87862096	18	0	1	0
chr10	89207285	89207285	C	T	exonic	CH25H	.	nonsynonymous SNV	CH25H:NM_003956:exon1:c.G8A:p.C3Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0236378751166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41e-06	4.788e-06	1.395e-06	1.425e-06	2.64e-05	2.3e-07	9e-08	.	.	0	0	0	2.64e-05	0	0	9.16e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.049	0.48336	D	0.0	0.02946	B	0.001	0.04355	B	0.056574	0.02087	N	1.960160	1	0.08975	N	0.665	0.16292	N	-0.43	0.69657	T	0.45	0.03191	N	0.028	0.00618	-0.9891	0.32828	T	0.172	0.51421	T	10	0.035797536	0.01846	T	0.023638	0.46609	T	0.063	0.18251	0.197	0.10975	0.0884992946249	0.08302	0.28294205647209286	0.28207	0.670847029392	0.59432	0.273569464684	0.06612	T	0.078293	0.35858	T	-0.244109	0.14829	T	-0.588422	0.13803	T	0.141884014010429	0.16436	T	0.208179	0.02493	T	0.067826234	0.14723	0.16347194	0.37920	0.067826234	0.14722	0.16347194	0.37919	-4.499	0.30876	T	.	.	0.070	0.03336	B	.	.	-0.997501	0.00775	0.025	0.7022576696982612	0.09226	0.05454	0.11332	N	AEFDGBCIJ	0.087705	0.17783	N	-1.33261883742133	0.03309	0.1475649	-1.35370576087351	0.03762	0.1761722	0.99999972460992	0.74766	0.443343	0.08805	1	0.491552	0.07993	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.82	-0.498	0.11419	-0.341000	0.07858	-1.716000	0.04859	-1.638000	0.00844	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5572:0.2346:0.2082	6.665	0.22225	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	869.33	35	chr10	89207285	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=696;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=0.994;SOR=0.903	GT:AD:DP:GQ:PL	0/1:20,31:51:99:883,0,464	18	0	1	0
chr10	93374923	93374923	T	C	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon22:c.A2102G:p.N701S,MYOF:NM_013451:exon23:c.A2141G:p.N714S	.	.	.	.	.	.	.	.	.	.	.	2314094	not_specified|MYOF-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0560088701625	.	0.000399361	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001552	24	154602	rs552853081	0.0001	0.0001	5.718e-05	0.0002	0.0016	9.051e-05	8.534e-05	0.0014	0.0013	2.988e-05	0	0	2.519e-05	0	0.0002	2.698e-06	6.625e-05	0.0016	4.595e-05	4.593e-05	1.285e-05	8.053e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.904	0.02513	T	0.924	0.02873	T	0.104	0.63424	B	0.09	0.68059	B	0.000000	0.84330	D	0.046526	1	0.81001	D	1.925	0.51371	L	-1.28	0.79376	T	-1.56	0.37759	N	0.786	0.78262	-0.2006	0.77656	T	0.523	0.82211	D	10	0.10067865	0.18350	T	0.056009	0.66448	D	0.361	0.68141	.	.	0.789868322563	0.78792	0.22712637372610012	0.22627	0.557220950555	0.52343	0.415820240974	0.27261	T	0.205966	0.56517	T	-0.313759	0.07421	T	-0.279818	0.46822	T	0.210847651402104	0.20998	T	0.90041	0.65400	D	0.13600986	0.31545	0.17629154	0.40152	0.13600986	0.31545	0.17629154	0.40152	-4.969	0.37548	T	.	.	0.105	0.21428	B	.;.	.;.	3.940533	0.57659	23.9	0.99186751461217892	0.54848	0.99676	0.98575	D	AEFBI	0.902151	0.84971	D	0.10564885511618	0.46726	2.90862	0.190273989567902	0.49312	3.135973	0.999999999996516	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.017000	0.88732	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.070	0.80721	501	0.75956	.;Ferlin A-domain|Ferlin A-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	1887.33	33	chr10	93374923	.	T	C	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.746;SOR=0.656	GT:AD:DP:GQ:PL	0/1:99,77:176:99:1901,0,2478	18	0	1	0
chr10	94341721	94341721	T	A	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon14:c.A1596T:p.E532D	.	493	1028	1	0	0	1	0.000486145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.013866817231	.	.	8.567e-06	0	0	0	0	0	0	6.348e-05	3.84e-05	1	26028	rs761803586	5.64e-06	5.473e-06	7.005e-06	4.257e-06	0.0002	2.43e-06	1.75e-06	1.711e-05	1.016e-05	0	0	0	0	0	0.0002	1.837e-06	1.71e-05	5.19e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.434	0.09430	T	0.242	0.24264	T	0.073	0.24078	B	0.026	0.20792	B	0.000056	0.53742	D	0.193237	0.983576	0.40032	D	.	.	.	1.36	0.34452	T	-0.37	0.13226	N	0.326	0.36674	-0.9582	0.39516	T	0.080	0.31765	T	10	0.15654457	0.29480	T	0.013867	0.33594	T	0.163	0.42028	0.686	0.82367	0.192905019026	0.18896	0.19610411651198537	0.19527	0.0746427827131	0.08380	0.787606358528	0.80078	T	0.031066	0.21869	T	-0.277155	0.10972	T	-0.449353	0.27768	T	0.113907247781754	0.13824	T	0.849215	0.53152	T	0.037019286	0.04666	0.044806212	0.05886	0.037019286	0.04666	0.044806212	0.05886	-2.714	0.07421	T	.	.	0.275	0.50853	B	.	.	1.183047	0.15737	12.07	0.8314630838951903	0.14567	0.74249	0.36320	D	AEFBI	0.259193	0.37759	N	-1.2581793140631	0.04193	0.1887728	-1.10007484437898	0.07699	0.3755451	4.5886998739706E-4	0.07036	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	-3.76	0.04074	-0.082000	0.11268	-1.092000	0.06355	-1.097000	0.01519	0.814000	0.29906	0.001000	0.17328	0.976000	0.56436	0.1151:0.1926:0.0:0.6923	9.693	0.39306	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	420.33	20	chr10	94341721	.	T	A	420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=577;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.28;SOR=0.527	GT:AD:DP:GQ:PL	0/1:11,19:30:99:434,0,233	18	0	1	0
chr10	98208913	98208913	A	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.A799G:p.T267A,R3HCC1L:NM_001351013:exon3:c.A799G:p.T267A,R3HCC1L:NM_001256620:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351012:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351017:exon4:c.A799G:p.T267A,R3HCC1L:NM_014472:exon4:c.A799G:p.T267A,R3HCC1L:NM_001256619:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351015:exon5:c.A799G:p.T267A,R3HCC1L:NM_138469:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351011:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351014:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351010:exon7:c.A799G:p.T267A	.	435	1059	27	1	0	29	0.0135072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0051	0.0071885	0.0078	0.0011	0.0047	0	0.0014	0.0080	0.0066	0.0205	0.0076454	1182	154602	rs34530959	0.0086	0.0086	0.0082	0.0090	0.0201	0.0085	0.0084	0.0193	0.0190	0.0012	0.0037	0.0059	2.52e-05	0.0012	0.0080	0.0089	0.0076	0.0201	0.0059	0.0059	0.0062	0.0056	0.0232	0.0056	0.0055	0.0197	0.0184	0.0013	0.0463	0.0038	0.0066	0	0.0007	0	0.0086	0.0099	0.0232	0.137	0.25979	T	0.6	0.08273	T	0.032	0.20242	B	0.014	0.16862	B	0.166693	0.03079	N	1.629900	1	0.08975	N	1.1	0.28011	L	3.25	0.06762	T	-0.6	0.17834	N	0.044	0.01825	-1.0010	0.29631	T	0.011	0.04274	T	9	0.0027643144	0.00043	T	.	.	.	0.007	0.00512	.	.	0.0482279557977	0.04254	0.023350799503570732	0.02287	0.0174654816971	0.01699	0.264840126038	0.05481	T	0.002634	0.02024	T	-0.740741	0.00020	T	-0.821205	0.01428	T	0.00381247563723271	0.00040	T	0.425957	0.11436	T	0.02124399	0.00716	0.034707204	0.02585	0.02124399	0.00716	0.034707204	0.02585	-3.417	0.15286	T	.	.	0.065	0.04723	B	.;.;.;.	.;.;.;.	-1.490040	0.00301	0.005	0.51185045223122472	0.04517	0.00405	0.02019	N	AEFBI	0.013632	0.00188	N	-1.46056604904717	0.02135	0.09394884	-1.56025792612638	0.01906	0.08694176	0.999778230842102	0.42865	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	-7.45	0.01229	-1.589000	0.02208	-4.122000	0.02330	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2533:0.1186:0.6281:0.0	9.844	0.40181	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2190.33	33	chr10	98208913	.	A	G	2190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=803;ExcessHet=0;FS=1.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.448;SOR=0.736	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2204,0,2267	18	0	1	0
chr10	99908090	99908090	G	A	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon3:c.C1355T:p.P452L,DNMBP:NM_001318327:exon3:c.C323T:p.P108L,DNMBP:NM_015221:exon6:c.C2459T:p.P820L	.	433	1073	15	1	0	17	0.00785945	.	.	.	3205900	DNMBP-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0013	0.00439297	0.0037	0.0009	0.0035	0	0.0002	0.0024	0.0033	0.0142	0.0035446	548	154602	rs114927649	0.0032	0.0032	0.0029	0.0034	0.0133	0.0031	0.0030	0.0126	0.0124	0.0009	0.0031	3.828e-05	0	0.0003	0.0026	0.0028	0.0026	0.0133	0.0021	0.0021	0.0022	0.0020	0.0104	0.0019	0.0018	0.0081	0.0073	0.0005	0.0055	0.0036	0	0	0	0.0068	0.0026	0.0047	0.0104	0.158	0.23905	T	0.394	0.15305	T	0.007	0.14184	B	0.011	0.15521	B	0.035886	0.24589	N	0.293194	0.96449	0.38410	D	0.645	0.16088	N	2.18	0.18875	T	-2.64	0.56630	D	0.191	0.20925	-1.0591	0.11981	T	0.076	0.30492	T	10	0.007874578	0.00179	T	.	.	.	0.142	0.37995	.	.	0.695313823607	0.69269	0.2963498523593624	0.29547	0.148289902815	0.16722	0.415621459484	0.27233	T	0.049016	0.28186	T	-0.373469	0.03422	T	-0.297563	0.44980	T	0.018373826929562	0.00555	T	0.893711	0.65919	D	0.08864106	0.20684	0.09831477	0.23435	0.08864106	0.20684	0.09831477	0.23435	-9.25	0.69292	D	.	.	0.115	0.29311	B	.;.;.	.;.;.	3.472754	0.48458	22.6	0.94403996972591642	0.24795	0.83904	0.42995	D	AEFBI	0.114773	0.22594	N	-0.363083730664651	0.26794	1.465106	-0.1508070723497	0.33378	1.908636	0.999908230800798	0.45458	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.99	3.96	0.45097	1.536000	0.35678	9.329000	0.80114	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0725:0.0972:0.6519:0.1784	7.425	0.26264	441	0.80015	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	950.33	34	chr10	99908090	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=717;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.31;SOR=0.604	GT:AD:DP:GQ:PL	0/1:49,42:91:99:964,0,1226	18	0	1	0
chr10	100506195	100506195	A	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon9:c.T889C:p.Y297H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.00852183821132	.	.	6.591e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs780579460	3.078e-05	3.078e-05	1.633e-05	4.538e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0003	0	0	0	0	0	0	1.799e-06	8.279e-05	0.0004	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.02	0.58613	D	1.0	0.90584	D	0.997	0.86255	D	0.000083	0.51296	D	0.175915	0.999941	0.58761	D	2.725	0.79712	M	1.61	0.28391	T	-4.58	0.78807	D	0.545	0.57177	0.036	0.82963	D	0.488	0.80525	T	10	0.48823717	0.60836	T	0.008522	0.22532	T	0.498	0.78226	0.417	0.45709	0.555788435936	0.55237	0.4205402635715404	0.41970	0.0655229834412	0.07310	0.660344421864	0.61458	T	0.043718	0.26591	T	0.0140133	0.53571	T	0.118612	0.78144	D	0.923020303249359	0.58344	D	0.908809	0.67676	D	0.60994554	0.73225	0.6045611	0.77015	0.60994554	0.73226	0.6045611	0.77016	-9.159	0.68714	D	.	.	0.293	0.52434	B	.	.	4.330238	0.66345	25.0	0.99845770237191855	0.92576	0.99133	0.91711	D	AEFBI	0.867536	0.78735	D	0.753164342092488	0.83112	7.932422	0.72963155705285	0.84626	8.345362	0.999999999998755	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	7.412000	0.79304	9.215000	0.79261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	1.0:0.0:0.0:0.0	14.859	0.69997	750	0.51762	WD40-repeat-containing 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	2493.33	46	chr10	100506195	.	A	G	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=897;ExcessHet=0;FS=6.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.459;SOR=1.051	GT:AD:DP:GQ:PL	0/1:125,93:218:99:2507,0,3202	18	0	1	0
chr10	114972233	114972233	G	A	exonic	TRUB1	.	nonsynonymous SNV	TRUB1:NM_139169:exon6:c.G695A:p.S232N	.	.	.	.	.	.	.	.	.	.	.	2320338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00735489420965	.	.	0.0001	0	0	0	0	0	0.0011	0.0009	0.0001035	16	154602	rs772067082	5.216e-05	5.199e-05	2.731e-05	7.729e-05	0.0009	4.272e-05	3.901e-05	0.0007	0.0007	0	0	0	0	0	0	0	3.32e-05	0.0009	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.21	0.19639	T	0.375	0.16231	T	0.106	0.26037	B	0.102	0.30857	B	0.000070	0.52346	D	0.200143	0.631766	0.32796	D	0.1	0.08449	N	2.51	0.14284	T	-0.38	0.13418	N	0.251	0.28381	-1.0575	0.12388	T	0.028	0.12014	T	10	0.062464684	0.07990	T	0.007355	0.19496	T	0.030	0.07022	0.438	0.49157	0.464098490096	0.46036	0.39549193619174655	0.39464	0.278737890975	0.30353	0.448015779257	0.31673	T	0.03848	0.24853	T	-0.579957	0.00193	T	-0.686371	0.06601	T	0.0878594544164535	0.10962	T	0.773323	0.40460	T	0.119041905	0.28038	0.11942216	0.28824	0.119041905	0.28037	0.11942216	0.28824	-1.894	0.02805	T	.	.	0.078	0.06849	B	.	.	2.728349	0.35709	19.97	0.98763612254534627	0.45847	0.89641	0.50236	D	AEFBI	0.178018	0.30528	N	-0.139082727040802	0.35700	2.053965	0.0132285449928555	0.40328	2.40501	0.988045692757903	0.31404	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.138000	0.41764	8.479000	0.77294	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0801:0.0:0.9199:0.0	11.839	0.51619	891	0.26808	Pseudouridine synthase II, 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	1004.33	33	chr10	114972233	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=695;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=2;SOR=0.697	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1018,0,827	18	0	1	0
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	0/1:60,24:105:99:111,0,914	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|1:111,23:134:99:0|1:124989533_G_A:611,0,4489:124989533	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	0/1:125,19:144:77:77,0,4191	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|1:139,19:158:99:0|1:124994489_T_G:379,0,5738:124994489	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|1:140,24:164:99:0|1:124994489_T_G:567,0,5741:124994489	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|1:142,24:166:99:0|1:124994489_T_G:561,0,5777:124994489	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|1:145,30:175:99:0|1:124994523_G_A:760,0,5860:124994523	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	0/1:140,32:172:99:401,0,3906	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	0/1:136,31:167:99:259,0,3827	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|1:129,36:165:99:0|1:124994577_C_A:1063,0,5223:124994577	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|1:117,9:126:26:0|1:125003006_T_C:26,0,4843:125003006	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|1:117,9:126:26:0|1:125003006_T_C:26,0,4843:125003006	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|1:114,9:123:35:0|1:125003006_T_C:35,0,4760:125003006	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|1:110,9:119:47:0|1:125003036_C_A:47,0,4544:125003036	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|1:106,14:120:99:0|1:125003062_T_A:269,0,4336:125003062	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|1:107,14:121:99:0|1:125003062_T_A:266,0,4371:125003062	4	0	7	8
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	296.38	60	chr10	125003448	.	G	C	296.38	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.301;DP=1574;ExcessHet=0.3672;FS=5.744;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=59.14;MQRankSum=-8.275;QD=1.23;ReadPosRankSum=0.628;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:59:0|1:125003425_G_C:59,0,2669:125003425	7	0	3	9
chr10	125989303	125989303	G	A	exonic	FANK1	.	nonsynonymous SNV	FANK1:NM_001350939:exon4:c.G340A:p.V114I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs578135024	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	6.33e-05	8.403e-05	0	0	6.204e-05	0.0004	0.0003	0.0004	3.799e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.621e-05	0	0.0002	0	0	0	0	0.0004	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	966.33	34	chr10	125989303	.	G	A	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.946;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-0.178;SOR=0.9	GT:AD:DP:GQ:PL	0/1:25,30:55:99:980,0,877	18	0	1	0
chr10	126504556	126504556	C	T	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.G644A:p.G215E,C10orf90:NM_001350921:exon4:c.G935A:p.G312E,C10orf90:NM_001350922:exon4:c.G935A:p.G312E,C10orf90:NM_001350923:exon4:c.G935A:p.G312E	.	435	1077	10	0	0	10	0.00462107	.	.	.	723841	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00424603107095	0.0032	0.00139776	0.0026	0.0005	0.0013	0	0.0012	0.0033	0.0022	0.0036	0.0025873	400	154602	rs145052480	0.0037	0.0037	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0007	0.0017	0.0002	0	0.0014	0.0038	0.0043	0.0031	0.0038	0.0025	0.0025	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0012	0.0003	0	0.0014	0	0.0041	0.0024	0.0037	0.343	0.12961	T	0.531	0.10138	T	0.228	0.30509	B	0.083	0.29179	B	0.421267	0.04649	N	1.349420	1	0.08975	N	1.04	0.26193	L	2.4	0.15608	T	0.6	0.03824	N	0.212	0.23632	-1.0001	0.29888	T	0.039	0.16763	T	10	0.0058040917	0.00129	T	0.004246	0.10247	T	0.017	0.02790	.	.	0.132336055621	0.12781	0.05946805027738582	0.05886	0.103164312914	0.11667	.	.	.	0.004728	0.11951	T	-0.619005	0.00112	T	-0.661942	0.08135	T	0.0006389892534907	0.00006	T	0.69993	0.30971	T	0.036325146	0.04446	0.050825723	0.08056	0.036325146	0.04446	0.050825723	0.08056	-3.608	0.17973	T	.	.	0.088	0.23709	B	.;.;.;.	.;.;.;.	-0.003488	0.04258	1.057	0.60175562718248343	0.06400	0.09780	0.15458	N	AEFGBCI	0.083687	0.16956	N	-1.04212494890468	0.07743	0.3607118	-1.10611925088509	0.07583	0.3693999	0.638559322367664	0.22032	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	5.0	-0.355	0.11961	-0.146000	0.10233	-4.089000	0.02349	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4233:0.0:0.5767	7.473	0.26527	609	0.67094	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.010101	0.005435	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2085.33	111	chr10	126504556	.	C	T	2085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.042;DP=1371;ExcessHet=0;FS=6.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.148;SOR=0.374	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2099,0,2393	18	0	1	0
chr11	299387	299387	T	G	exonic	IFITM5	.	nonsynonymous SNV	IFITM5:NM_001025295:exon1:c.A104C:p.D35A	Osteogenesis imperfecta, type V, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.860	0.583205959176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011303178	2.097e-06	2.052e-06	1.387e-06	2.818e-06	2.733e-06	5.6e-07	1.6e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.733e-06	0	0	6.578e-06	6.569e-06	0	1.346e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	3.65	0.94181	H	-2.49	0.89145	D	-7.58	0.95276	D	0.91	0.91162	0.858	0.95131	D	0.833	0.94390	D	10	0.9908117	0.99594	D	0.583206	0.96272	D	0.860	0.95728	0.88	0.96835	0.657158037913	0.65429	0.8468084925308526	0.84641	0.0832408400961	0.09385	0.763398885727	0.76436	T	0.884213	0.97597	D	0.432119	0.91641	D	0.382932	0.91536	D	0.999246120452881	0.96675	D	0.906909	0.67118	D	0.9401824	0.95266	0.8786777	0.93469	0.9401824	0.95267	0.8786777	0.93469	-12.894	0.88921	D	0.4982099202291042	0.57387	0.894	0.82343	P	.	.	4.044838	0.59904	24.2	0.99203283758759186	0.55351	0.99244	0.93355	D	AEFBI	0.804187	0.72912	D	0.485160182569938	0.66222	4.922454	0.303413583548763	0.55739	3.736837	0.999999750506678	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.562822	0.20929	0	.	.	4.48	4.48	0.53973	6.645000	0.74198	5.959000	0.51789	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.368000	0.26066	0.0:0.0:0.0:1.0	12.965	0.57880	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	1471.33	34	chr11	299387	.	T	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=872;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.092;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,56:120:99:0|1:299387_T_G:1485,0,1619:299387	18	0	1	0
chr11	431757	431757	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001347882:exon6:c.G44A:p.R15H,ANO9:NM_001012302:exon7:c.G476A:p.R159H	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0003	0.0275559	0.0087	0.0016	8.729e-05	0.1148	0	1.529e-05	0.0102	0.0015	0.0082729	1279	154602	rs78972632	0.0030	0.0030	0.0031	0.0028	0.0884	0.0029	0.0029	0.0860	0.0850	0.0007	0.0002	3.834e-05	0.0884	0	0.0007	2.789e-05	0.0098	0.0021	0.0044	0.0044	0.0043	0.0045	0.1060	0.0041	0.0040	0.0987	0.0957	0.0015	0	0.0019	0	0.1060	0	0	7.359e-05	0.0057	0.0027	0.285	0.15251	T	0.22	0.25907	T	0.0	0.02946	B	0.0	0.01387	B	0.252907	0.03658	N	1.845210	1	0.08975	N	-0.69	0.01958	N	-0.35	0.68616	T	1.48	0.00756	N	0.05	0.02179	-1.1340	0.01600	T	0.003	0.00897	T	10	0.001875937	0.00025	T	.	.	.	0.040	0.10527	.	.	0.0611884634855	0.05136	0.20705851998340977	0.20621	0.292515263273	0.31669	0.296128630638	0.09826	T	0.042978	0.26354	T	-0.640731	0.00083	T	-0.596425	0.13113	T	0.0016213054078414	0.00016	T	0.0465953	0.00332	T	0.02936699	0.02419	0.022439579	0.00268	0.02936699	0.02418	0.022439579	0.00268	-3.135	0.11703	T	.	.	0.065	0.01884	B	.	.	0.643583	0.10120	6.866	0.82767067481100032	0.14364	0.00859	0.03418	N	AEFDBCI	0.023673	0.01352	N	-1.48670225070622	0.01943	0.08531538	-1.50934414873418	0.02272	0.1042195	0.605815837670193	0.21764	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.25	-2.41	0.06184	-0.715000	0.05099	-1.382000	0.05571	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1184:0.3007:0.1217:0.4592	2.252	0.03798	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	816.33	34	chr11	431757	.	C	T	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.66;DP=658;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.075;SOR=0.941	GT:AD:DP:GQ:PL	0/1:12,34:46:99:830,0,245	18	0	1	0
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	770.04	569	chr11	1017465	.	C	*	770.04	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.694;DP=12563;ExcessHet=2.0135;FS=1.992;InbreedingCoeff=-0.2282;MLEAC=3;MLEAF=0.088;MQ=55.61;MQRankSum=-9.847;QD=0.19;ReadPosRankSum=-1.563;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:557,52:630:99:0|1:1017465_C_*:430,0,23638:1017465	14	0	3	2
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1308.94	585	chr11	1017467	.	G	*	1308.94	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.71;DP=12628;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2754;MLEAC=2;MLEAF=0.063;MQ=55.3;MQRankSum=-4.128;QD=0.31;ReadPosRankSum=-1.766;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:541,52:601:99:.:.:577,0,24341:.	14	0	2	3
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	13719.0	569	chr11	1017471	.	C	*	13719.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.309;DP=12666;ExcessHet=8.9063;FS=0.799;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=55.33;MQRankSum=-10.02;QD=1.77;ReadPosRankSum=2.61;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:568,52:639:99:0|1:1017465_C_*:396,0,24203:1017465	14	0	3	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	383.39	586	chr11	1017475	.	T	*	383.39	.	AC=3;AF=0.088;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=3;MLEAF=0.088;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/1:580,52:635:99:337,0,25033	14	0	3	2
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,81:652:99:.:.:3913,0,17959:.	9	0	9	1
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1913.95	552	chr11	1017504	.	G	*	1913.95	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.26;DP=12586;ExcessHet=4.0268;FS=1.712;InbreedingCoeff=-0.275;MLEAC=2;MLEAF=0.056;MQ=55.78;MQRankSum=-7.178;QD=0.4;ReadPosRankSum=-1.817;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:544,56:654:93:.:.:698,0,22423:.	16	0	2	1
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2723.29	553	chr11	1017522	.	T	*	2723.29	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.179;DP=12333;ExcessHet=0.3672;FS=1.842;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.033;MQ=55.03;MQRankSum=-3.512;QD=1.23;ReadPosRankSum=4.51;SOR=0.503	GT:AD:DP:GQ:PL	0/1:665,52:717:99:334,0,27755	14	0	1	4
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2853.76	576	chr11	1017528	.	T	*	2853.76	.	AC=1;AF=0.033;AN=30;BaseQRankSum=7.29;DP=12519;ExcessHet=2.9153;FS=3.69;InbreedingCoeff=-0.3103;MLEAC=1;MLEAF=0.033;MQ=55.83;MQRankSum=-8.689;QD=0.51;ReadPosRankSum=0.242;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	14	0	1	4
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	10011.6	575	chr11	1017529	.	G	*	10011.6	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.673;DP=12585;ExcessHet=6.9875;FS=2.906;InbreedingCoeff=-0.4615;MLEAC=1;MLEAF=0.033;MQ=55.85;MQRankSum=-5.296;QD=1.4;ReadPosRankSum=4.09;SOR=0.62	GT:AD:DP:GQ:PL	0/1:665,52:717:99:334,0,27755	14	0	1	4
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	624.39	566	chr11	1017545	.	G	*	624.39	.	AC=1;AF=0.036;AN=28;BaseQRankSum=4.93;DP=12583;ExcessHet=0.7564;FS=4.073;InbreedingCoeff=-0.2063;MLEAC=1;MLEAF=0.036;MQ=56.74;MQRankSum=-8.074;QD=0.22;ReadPosRankSum=-3.811;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	13	0	1	5
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	12806.9	427	chr11	1017552	.	T	*	12806.9	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.649;DP=11903;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3818;MLEAC=1;MLEAF=0.031;MQ=59.41;MQRankSum=1.75;QD=2.87;ReadPosRankSum=0.085;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	15	0	1	3
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	406	chr11	1017891	.	G	T	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.032;DP=8688;ExcessHet=0;FS=10.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.66;MQRankSum=-13.28;QD=2.32;ReadPosRankSum=3.15;SOR=1.691	GT:AD:DP:GQ:PL	0/1:459,63:532:99:1226,0,18804	18	0	1	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.35	330	chr11	1017980	.	G	C	525.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=6869;ExcessHet=0;FS=10.733;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=54.41;MQRankSum=-5.012;QD=1.46;ReadPosRankSum=-2.02;SOR=2.719	GT:AD:DP:GQ:PL	0/1:323,36:359:99:539,0,13419	18	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:284,35:346:99:.:.:615,0,11820:.	5	0	14	0
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	*	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:1096742_ATCT_A:160,0,1438:1096742	6	0	3	10
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	49.9	24	chr11	1096745	.	T	*	49.9	.	AC=3;AF=0.188;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=5;MLEAF=0.313;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:1096742_ATCT_A:160,0,1438:1096742	5	0	3	11
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	188.79	28	chr11	1096749	.	C	G	188.79	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.03;DP=744;ExcessHet=0.4742;FS=19.98;InbreedingCoeff=0.2231;MLEAC=2;MLEAF=0.067;MQ=49.36;MQRankSum=0;QD=1.47;ReadPosRankSum=-2.639;SOR=1.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,6:44:99:0|1:1096742_ATCT_A:138,0,1415:1096742	13	0	2	4
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	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	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,12:113:21:.:.:21,0,3203:.	7	0	6	6
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,213:336:99:.:.:3510,0,2976:.	6	0	6	7
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	0/1:0,213:343:99:.:.:8720,4213,4466:.	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	0/1:495,451:946:99:.:.:11757,0,13040:.	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	0/1:74,93:167:99:2331,0,1771	17	0	2	0
chr11	1598148	1598148	G	A	exonic	KRTAP5-2	.	nonsynonymous SNV	KRTAP5-2:NM_001004325:exon1:c.C103T:p.R35C	.	480	1020	22	0	0	22	0.0106693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00319489	0.0006	0.0068	0.0004	0	0	3.095e-05	0	0	0.0006145	95	154602	rs138454470	0.0003	0.0014	0.0004	0.0002	0.0107	0.0003	0.0003	0.0097	0.0093	0.0107	0.0008	0	0	2.651e-05	0	3.985e-05	0.0007	1.444e-05	0.0057	0.0068	0.0057	0.0058	0.0226	0.0052	0.0049	0.0202	0.0193	0.0226	0	0.0038	0.0008	0	0.0009	0	0.0005	0.0046	0.0006	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	0.757796	0.29571	N	-2.375	0.00080	N	5.95	0.00612	T	4.05	0.00053	N	0.198	0.21839	-0.9652	0.38171	T	0.001	0.00408	T	7	0.0053781867	0.00118	T	.	.	.	0.048	0.13305	.	.	0.126345400529	0.12197	0.04239761366701358	0.04184	0.120354671306	0.13553	.	.	.	0.00172	0.01148	T	-0.644603	0.00078	T	-0.693296	0.06201	T	0.0558774954291982	0.06503	T	.	.	.	0.15682541	0.35370	0.06273153	0.12319	0.15682541	0.35369	0.06273153	0.12319	3.781	0.00010	T	.	.	0.074	0.05060	B	.	.	0.974474	0.13517	10.04	0.9767579808303416	0.35282	0.00173	0.01021	N	AEFDBI	0.026611	0.02029	N	-0.798609955567976	0.13346	0.6568261	-0.841582099056225	0.13489	0.7000655	0.108538388470961	0.16585	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.5	1.5	0.22029	-0.184000	0.09693	.	.	-0.340000	0.05703	0.000000	0.06391	.	.	0.015000	0.10482	0.8126:0.0:0.1874:0.0	4.946	0.13341	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	0.006729	0.010204	0.001359	0.006897	0.000000	0.000000	0.012195	0.003788	0.02632	62.37	127	chr11	1598148	.	G	A	62.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.559;DP=1371;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=-5.151;QD=0.53;ReadPosRankSum=-0.613;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,12:117:76:0|1:1598148_G_A:76,0,2704:1598148	18	0	1	0
chr11	4946234	4946234	G	T	exonic	OR51A4	.	nonsynonymous SNV	OR51A4:NM_001005329:exon1:c.C867A:p.N289K	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	.	.	0.0153754	0.0088	0.0006	0.0831	0.0096	0	0.0004	0.0022	0.0012	0.0085445	1321	154602	rs199749360	0.0034	0.0047	0.0039	0.0030	0.0888	0.0034	0.0033	0.0864	0.0854	0.0006	0.0888	0.0049	0.0200	0	0.0003	8.275e-05	0.0033	0.0013	0.0082	0.0090	0.0073	0.0093	0.0657	0.0079	0.0077	0.0623	0.0609	0.0016	0	0.0657	0.0078	0.0199	0	0	0.0002	0.0114	0.0023	0.005	0.63226	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4	0.96753	H	-1.98	0.85247	D	-5.63	0.86836	D	0.828	0.82358	0.347	0.88296	D	0.821	0.93969	D	9	0.016762316	0.00355	T	.	.	.	0.605	0.84452	0.755	0.88484	.	.	0.453392044027209	0.45257	1.37714289507	0.84704	0.360686719418	0.19486	T	0.058178	0.30772	T	-0.266933	0.12101	T	-0.148245	0.59399	T	0.1201296758224	0.14443	T	0.743426	0.36288	T	0.6984757	0.77973	0.5810491	0.75715	0.6984757	0.77975	0.5810491	0.75716	-7.261	0.55918	T	.	.	0.602	0.70816	P	.;.	.;.	1.560427	0.19987	14.54	0.99256589195648126	0.57055	0.78568	0.38782	D	AEFGI	0.289590	0.40119	N	0.0557302249965139	0.44405	2.715296	-0.295846267243409	0.28236	1.572678	7.1569933174362E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	-4.55	0.03197	-0.336000	0.07908	.	.	0.618000	0.50648	0.220000	0.24536	0.000000	0.08366	0.020000	0.11549	0.5398:0.0:0.4602:0.0	10.790	0.45625	846	0.36215	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	.	.	.	.	.	.	.	.	0.02632	509.33	34	chr11	4946234	.	G	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.47;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.44;MQRankSum=-8.469;QD=5.31;ReadPosRankSum=-0.661;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:4946234_G_T:523,0,1996:4946234	18	0	1	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	0/1:124,35:159:99:.:.:197,0,3192:.	5	0	9	5
chr11	6437081	6437081	G	A	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon7:c.C800T:p.T267M	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00445136923178	7.7e-05	0.000399361	0.0006	9.625e-05	8.64e-05	0.0001	0	0.0003	0.0011	0.0029	0.0005175	80	154602	rs180923845	0.0006	0.0006	0.0004	0.0007	0.0040	0.0005	0.0005	0.0028	0.0027	0	0.0003	0	2.519e-05	0	0.0040	0.0004	0.0007	0.0031	0.0004	0.0004	0.0004	0.0004	0.0048	0.0003	0.0003	0.0033	0.0028	4.812e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0014	0.0048	0.055	0.38407	T	0.085	0.41074	T	0.003	0.11197	B	0.001	0.04355	B	0.262427	0.03718	N	1.539910	1	0.08975	N	0.875	0.21512	L	0.32	0.58468	T	-3.39	0.66896	D	0.109	0.09490	-0.9834	0.34211	T	0.183	0.53118	T	10	0.009746462	0.00219	T	0.004451	0.10906	T	0.099	0.28413	.	.	0.252681307341	0.24864	0.4750191506890764	0.47420	0.244393863738	0.26944	0.253955602646	0.04196	T	0.21976	0.58286	T	-0.582485	0.00186	T	-0.612526	0.11781	T	0.00892574084697565	0.00111	T	0.549745	0.18930	T	0.045345016	0.07405	0.13261719	0.31820	0.045345016	0.07405	0.13261719	0.31819	-10.647	0.77687	D	.	.	0.074	0.05103	B	.	.	1.639102	0.20919	14.97	0.92898740946173697	0.22453	0.00097	0.00633	N	AEFBI	0.110487	0.21908	N	-1.10381763173796	0.06575	0.3030571	-1.08208074138626	0.08053	0.3943056	0.93575543691628	0.27226	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.25	1.65	0.23015	1.165000	0.31432	5.201000	0.47933	-0.666000	0.04332	0.001000	0.13787	0.409000	0.24749	0.803000	0.37862	0.651:0.0:0.349:0.0	7.634	0.27424	754	0.51307	Hemopexin-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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	2428.33	33	chr11	6437081	.	G	A	2428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.352;SOR=0.722	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2442,0,2058	18	0	1	0
chr11	6955765	6955765	C	T	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.C74T:p.S25F,ZNF215:NM_001354859:exon5:c.C74T:p.S25F,ZNF215:NM_001354860:exon5:c.C74T:p.S25F,ZNF215:NM_001354854:exon6:c.C788T:p.S263F,ZNF215:NM_001354855:exon6:c.C110T:p.S37F,ZNF215:NM_001354856:exon6:c.C110T:p.S37F,ZNF215:NM_001354857:exon6:c.C110T:p.S37F,ZNF215:NM_001354853:exon7:c.C788T:p.S263F,ZNF215:NM_013250:exon7:c.C788T:p.S263F	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0279553	0.0119	0.0004	0.0003	0.1565	0.0006	0.0003	0.0044	0.0026	0.0109507	1693	154602	rs11041115	0.0048	0.0048	0.0049	0.0047	0.1491	0.0047	0.0046	0.1460	0.1447	0.0001	0.0003	0.0014	0.1491	0.0006	0.0007	0.0002	0.0086	0.0029	0.0062	0.0062	0.0052	0.0072	0.1634	0.0058	0.0057	0.1543	0.1506	0.0004	0	0.0010	0.0003	0.1634	0.0003	0	0.0002	0.0047	0.0070	0.286	0.38633	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	0.136976	0.18428	N	0.463445	1	0.08975	N	0.695	0.17993	N	3.35	0.05989	T	-0.69	0.32590	N	0.05	0.22357	-0.9175	0.45891	T	0.000	0.00039	T	10	0.0018633902	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.03491743562516489	0.03438	0.00575651831249	0.00504	0.232027292252	0.02122	T	0.007914	0.07283	T	-0.725418	0.00025	T	-0.670969	0.07546	T	0.00138073188106306	0.00014	T	0.553645	0.20674	T	0.039760243	0.05550	0.040393483	0.04356	0.039760243	0.05550	0.040393483	0.04355	-4.381	0.29298	T	.	.	0.451	0.62256	A	.;.;.;.	.;.;.;.	0.509864	0.08789	5.564	0.10812505544346344	0.00146	0.02209	0.06439	N	AEFBI	0.039586	0.05771	N	-1.41207240586321	0.02532	0.1119274	-1.42681103058321	0.02986	0.1384662	0.667322152396888	0.22336	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.45	0.484	0.16035	0.654000	0.24603	-0.308000	0.10061	-0.842000	0.02783	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3642:0.4312:0.0:0.2046	3.159	0.06124	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	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	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	2313.33	34	chr11	6955765	.	C	T	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.465;DP=1383;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=0.645;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,61:130:99:0|1:6955757_A_T:2327,0,2617:6955757	18	0	1	0
chr11	8452869	8452869	C	T	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289059:exon6:c.G263A:p.R88K,STK33:NM_001289061:exon8:c.G824A:p.R275K,STK33:NM_001352393:exon8:c.G824A:p.R275K,STK33:NM_001352396:exon8:c.G701A:p.R234K,STK33:NM_001352397:exon8:c.G701A:p.R234K,STK33:NM_001352399:exon8:c.G824A:p.R275K,STK33:NM_001289058:exon9:c.G701A:p.R234K,STK33:NM_001352387:exon9:c.G824A:p.R275K,STK33:NM_001352391:exon9:c.G824A:p.R275K,STK33:NM_001352394:exon9:c.G701A:p.R234K,STK33:NM_001352395:exon9:c.G701A:p.R234K,STK33:NM_001352398:exon9:c.G701A:p.R234K,STK33:NM_030906:exon9:c.G824A:p.R275K,STK33:NM_001352388:exon10:c.G824A:p.R275K,STK33:NM_001352390:exon10:c.G824A:p.R275K,STK33:NM_001352392:exon10:c.G824A:p.R275K,STK33:NM_001352389:exon11:c.G824A:p.R275K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0159928083897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965	0.02678	T	0.935	0.02786	T	0.044	0.21686	B	0.048	0.24975	B	0.000064	0.52346	D	0.195970	1	0.08975	N	0.305	0.10234	N	2.02	0.63568	T	-0.62	0.21860	N	0.173	0.18512	-1.0146	0.25464	T	0.098	0.36625	T	10	0.14739808	0.27930	T	0.015993	0.37021	T	0.062	0.17934	0.381	0.39807	0.629573956357	0.62654	0.3616674524877966	0.36080	0.100588658315	0.11367	0.32249712944	0.13798	T	0.004924	0.08612	T	-0.140875	0.29750	T	-0.440133	0.28794	T	0.681577503681183	0.39860	D	0.684832	0.29327	T	0.094359	0.22183	0.08773615	0.20413	0.094359	0.22182	0.08773615	0.20412	-6.184	0.47793	T	.	.	0.093	0.24430	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.834433	0.37373	20.5	0.45265250635422621	0.03540	0.78105	0.38486	D	AEFI	0.739814	0.68425	D	-0.485204979935725	0.22566	1.20579	-0.328093603931259	0.27195	1.507354	0.00644535847037958	0.11219	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.22	4.31	0.50718	5.913000	0.69690	7.662000	0.64290	0.544000	0.25403	0.998000	0.41325	0.942000	0.28804	0.650000	0.32692	0.0:0.9117:0.0:0.0883	11.014	0.46896	534	0.73357	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	896.33	39	chr11	8452869	.	C	T	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=694;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.72;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,34:51:99:910,0,382	18	0	1	0
chr11	17788332	17788332	G	A	exonic	SERGEF	.	nonsynonymous SNV	SERGEF:NM_012139:exon11:c.C1130T:p.P377L	.	.	.	.	.	.	.	.	.	.	.	2346205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0321563231937	0.0002	0.000399361	0.0003	0	0	0	0	0.0001	0.0011	0.0013	0.0002393	37	154602	rs147331551	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0007	5.974e-05	0	0	2.519e-05	0	0.0005	0.0002	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0008	9.143e-05	7.699e-05	0.0003	0.0002	4.813e-05	0	0	0	0	0	0	0.0002	0.0009	0.0008	1.0	0.00964	T	0.488	0.11621	T	0.832	0.46138	P	0.242	0.38699	B	0.000206	0.47681	D	0.184175	0.975672	0.81001	D	0.295	0.10161	N	-1.76	0.83578	D	-1.83	0.42957	N	0.153	0.15749	-1.0236	0.22541	T	0.097	0.36393	T	10	0.037885785	0.02171	T	0.032156	0.54058	D	0.284	0.60219	.	.	0.772208786841	0.77012	0.4255861909354479	0.42475	0.204057146154	0.22819	0.399105548859	0.24944	T	0.072282	0.34416	T	-0.286624	0.09977	T	-0.24084	0.50716	T	0.0803160177112189	0.10027	T	0.738626	0.35686	T	0.070320494	0.15478	0.08472679	0.19511	0.070320494	0.15478	0.08472679	0.19510	-7.791	0.59637	D	.	.	0.096	0.15160	B	.	.	2.653173	0.34548	19.66	0.13060294935874631	0.00246	0.84727	0.43814	D	AEFBI	0.187957	0.31524	N	-0.109764132825815	0.36967	2.144056	-0.0503603756555898	0.37474	2.194671	0.99673959071958	0.34966	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.41	4.49	0.54177	3.380000	0.52180	6.700000	0.56368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.284000	0.24115	0.0722:0.0:0.9278:0.0	14.408	0.66663	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1862.33	41	chr11	17788332	.	G	A	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=827;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=3.09;SOR=0.505	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1876,0,1987	18	0	1	0
chr11	19713721	19713721	A	C	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001244963:exon1:c.A26C:p.K9T,NAV2:NM_145117:exon1:c.A26C:p.K9T,NAV2:NM_182964:exon1:c.A26C:p.K9T	.	392	1129	1	0	0	1	0.000442674	.	.	.	2850565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0207337192951	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288286466	1.47e-05	1.436e-05	8.293e-06	2.126e-05	0.0002	9.44e-06	8.02e-06	3.061e-05	2.081e-05	0	0	0	0	0	0.0002	1.283e-05	0	7.141e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	0.919	0.50927	P	0.501	0.47677	P	0.000014	0.62929	D	0.000000	0.999966	0.81001	D	0.975	0.24501	L	1.56	0.30133	T	-1.48	0.36189	N	0.511	0.58883	-1.1199	0.02338	T	0.068	0.27980	T	9	0.2297703	0.39913	T	0.020734	0.43381	T	0.134	0.36365	0.309	0.28128	0.0675242888579	0.06100	0.3857806026882216	0.38493	0.720202508775	0.62165	0.898564517498	0.96279	D	0.029335	0.49230	T	-0.119786	0.33158	T	-0.304555	0.44242	T	0.64015529076363	0.38044	D	0.848415	0.55036	T	0.48390844	0.66137	0.54849243	0.73897	0.48390844	0.66137	0.54849243	0.73897	-4.736	0.34216	T	.	.	0.541	0.68495	A	.;.;.;.;.	.;.;.;.;.	4.593367	0.72674	25.9	0.99703111507599718	0.80798	0.92412	0.55652	D	AEDBHCI	0.782765	0.71395	D	0.368790931822648	0.59739	4.155796	0.453121451721823	0.64918	4.758394	0.999999999995965	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	5.37	5.37	0.76949	6.370000	0.73050	11.171000	0.87970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.044	0.71475	886	0.28090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1081.33	34	chr11	19713721	.	A	C	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=695;ExcessHet=0;FS=2.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.349;SOR=1.085	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1095,0,719	18	0	1	0
chr11	31463252	31463252	T	C	exonic	IMMP1L	.	nonsynonymous SNV	IMMP1L:NM_001304274:exon2:c.A25G:p.T9A,IMMP1L:NM_144981:exon3:c.A25G:p.T9A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00934237815919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.09717	T	0.969	0.24054	T	0.0	0.02946	B	0.0	0.04355	B	0.000002	0.62929	N	0.098518	0.985709	0.81001	D	0.955	0.23872	L	0.91	0.44856	T	-0.06	0.09135	N	0.292	0.34120	-1.0781	0.07721	T	0.053	0.22617	T	10	0.09280047	0.16372	T	0.009342	0.24506	T	0.053	0.14996	0.426	0.47185	0.514980250562	0.51141	0.5646326564162981	0.56390	0.0126458111679	0.01211	0.488115310669	0.37178	T	0.009679	0.08796	T	-0.228397	0.16861	T	-0.565853	0.15832	T	0.150721535086632	0.17161	T	0.675632	0.31438	T	0.0615297	0.12751	0.046851877	0.06622	0.0615297	0.12751	0.046851877	0.06622	-5.004	0.36883	T	.	.	0.078	0.11220	B	.;.;.;.;.	.;.;.;.;.	2.008849	0.25522	16.79	0.43218891214948174	0.03239	0.85535	0.44677	D	AEFBI	0.424865	0.48986	N	-0.487770915012341	0.22482	1.200696	-0.292331848734373	0.28349	1.58009	8.53428165373112E-4	0.07917	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.6	3.26	0.36471	1.810000	0.38570	0.897000	0.22519	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1514:0.1397:0.7089	6.024	0.18869	381	0.83684	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1743.33	33	chr11	31463252	.	T	C	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.372;DP=761;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.045;SOR=0.608	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1757,0,1503	18	0	1	0
chr11	32934031	32934031	A	G	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.A2773G:p.M925V	.	.	.	.	.	.	.	.	.	.	.	2394385	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00468892823038	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs777222714	5.064e-05	5.062e-05	2.587e-05	7.565e-05	0.0007	4.126e-05	3.779e-05	0.0006	0.0005	0	0	0	0	0	0	6.296e-06	4.969e-05	0.0007	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.023	0.48186	D	0.395	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.000060	0.53742	D	0.131649	0.519014	0.31585	N	0.895	0.22405	L	2.36	0.16089	T	-1.04	0.27259	N	0.158	0.16447	-1.0662	0.10269	T	0.037	0.15813	T	10	0.028698623	0.01000	T	0.004689	0.11660	T	0.040	0.10527	0.16	0.06396	0.0675242888579	0.06100	0.3129223008214725	0.31205	0.0941277543069	0.10624	0.382169306278	0.22564	T	0.006019	0.05459	T	-0.439451	0.01303	T	-0.508223	0.21499	T	0.0708590214924967	0.08771	T	0.80282	0.44919	T	0.12492015	0.29296	0.15848807	0.37008	0.12492015	0.29296	0.15848807	0.37007	-2.532	0.06004	T	.	.	0.090	0.14523	B	.;.	.;.	1.168801	0.15586	11.96	0.96471636411666672	0.29939	0.98256	0.80988	D	AEFGBI	0.333673	0.43269	N	-0.301718203047178	0.29083	1.609704	-0.141958103415244	0.33718	1.931767	0.0566617639798894	0.15064	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.2	0.35826	1.600000	0.36372	2.773000	0.34684	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6922:0.191:0.0:0.1169	8.520	0.32429	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2154.33	124	chr11	32934031	.	A	G	2154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=2027;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.168;SOR=0.654	GT:AD:DP:GQ:PL	0/1:96,83:179:99:2168,0,2582	18	0	1	0
chr11	33286533	33286533	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon2:c.A119G:p.Y40C,HIPK3:NM_001278162:exon2:c.A119G:p.Y40C,HIPK3:NM_001278163:exon2:c.A119G:p.Y40C,HIPK3:NM_005734:exon2:c.A119G:p.Y40C	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	7.7e-05	0.00359425	0.0017	0	0.0002	0	0	0.0002	0.0033	0.0110	0.0014942	231	154602	rs200300898	0.0008	0.0008	0.0005	0.0011	0.0105	0.0008	0.0007	0.0100	0.0098	2.987e-05	6.708e-05	0	0	1.872e-05	0.0026	0.0002	0.0008	0.0105	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0002	0	0.0095	0.111	0.35726	T	0.158	0.63918	T	0.003	0.11197	B	0.004	0.10090	B	0.000642	0.42656	N	0.104879	0.999981	0.54805	D	2.495	0.72670	M	0.68	0.52416	T	-2.58	0.89029	D	0.492	0.55019	-1.0600	0.11756	T	0.088	0.34133	T	10	0.00625664	0.00141	T	.	.	.	0.114	0.32008	.	.	0.578573627871	0.57527	0.39945641044821606	0.39860	0.230702978242	0.25618	0.424282431602	0.28426	T	0.201099	0.55887	T	-0.383459	0.02962	T	-0.314194	0.43206	T	0.0553894793299196	0.06423	T	0.806819	0.45619	T	0.108618036	0.25682	0.085467264	0.19735	0.108618036	0.25682	0.085467264	0.19735	-4.116	0.25555	T	.	.	0.067	0.09820	B	.;.;.;.;.	.;.;.;.;.	2.995585	0.40004	21.1	0.9662471669403353	0.30491	0.88349	0.48236	D	AEFGBI	0.177065	0.30429	N	-0.193974685039973	0.33384	1.893416	-0.0176254700439987	0.38919	2.299893	0.997755935696829	0.35989	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	4.49	0.54177	4.048000	0.57102	4.175000	0.42299	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8044:0.0:0.0694:0.1263	7.543	0.26917	380	0.83728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1497.33	34	chr11	33286533	.	A	G	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.521;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.79;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1511,0,1372	18	0	1	0
chr11	35222374	35222374	G	A	splicing	CD44	NM_001202557:exon9:c.882-1G>A	.	.	.	421	1071	28	2	0	32	0.0147194	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0096	0.0022	0.0103	0	0.0049	0.0066	0.0097	0.0141	0.0024838	384	154602	rs140184039	0.0118	0.0097	0.0118	0.0119	0.0139	0.0117	0.0116	0.0132	0.0129	0.0020	0.0036	0.0030	7.942e-05	0.0047	0.0103	0.0127	0.0128	0.0139	0.0067	0.0067	0.0070	0.0065	0.0139	0.0064	0.0063	0.0113	0.0103	0.0020	0.0033	0.0052	0.0023	0.0004	0.0044	0.0136	0.0106	0.0071	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2819.79	35	chr11	35222374	.	G	A	2819.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.114;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.51;SOR=0.666	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1055,0,1252	16	0	3	0
chr11	47267965	47267965	T	A	exonic	NR1H3	.	nonsynonymous SNV	NR1H3:NM_001363595:exon6:c.T726A:p.N242K,NR1H3:NM_001130101:exon7:c.T861A:p.N287K,NR1H3:NM_001130102:exon7:c.T906A:p.N302K,NR1H3:NM_001251934:exon8:c.T1059A:p.N353K,NR1H3:NM_001251935:exon8:c.T1059A:p.N353K,NR1H3:NM_005693:exon8:c.T1041A:p.N347K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.145592489608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.47745	T	0.289	0.30143	T	0.771	0.56202	P	0.584	0.57014	P	0.000000	0.84330	D	0.000000	0.999906	0.50806	D	0.905	0.23240	L	-3.97	0.96243	D	-1.21	0.34992	N	0.535	0.57433	0.241	0.86590	D	0.771	0.92223	D	10	0.5629481	0.64890	D	0.145592	0.82777	D	0.393	0.70844	0.562	0.68229	0.86371597195	0.86239	0.8050695336711845	0.80460	1.19724128425	0.80435	0.847135066986	0.89181	D	0.41152	0.92297	T	0.0879879	0.62961	D	-0.111388	0.62499	T	0.859626650810242	0.51017	D	0.860114	0.55285	D	0.44572732	0.63770	0.15650328	0.36637	0.44572732	0.63771	0.15650328	0.36637	-11.299	0.81272	D	0.09522993311768813	0.06459	0.172	0.62023	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.175032	0.27721	17.56	0.99084540202667704	0.52051	0.80925	0.40442	D	AEFDBI	0.798400	0.72495	D	-0.302140010191861	0.29067	1.608665	-0.272678568876237	0.29003	1.62145	0.999948502165377	0.47345	0.741868	0.97996	0	0.709663	0.81188	0	0.774882	0.98623	0	0.655142	0.61905	0	.	.	5.32	-1.13	0.09274	0.011000	0.13162	-4.823000	0.01970	0.665000	0.62972	0.957000	0.33433	0.000000	0.08366	1.000000	0.97212	0.0:0.3429:0.1259:0.5312	6.450	0.21100	20	0.98525	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1235.33	34	chr11	47267965	.	T	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.935;DP=741;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.175;SOR=0.561	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1249,0,1726	18	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V	.	428	1078	15	1	0	17	0.00782329	.	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3918.83	41	chr11	54603676	.	G	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.406;DP=1609;ExcessHet=0.119;FS=3.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=1.03;QD=12.76;ReadPosRankSum=2.49;SOR=0.89	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2221,0,3088	17	0	2	0
chr11	57310138	57310138	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G2573A:p.R858Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2216859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0177472239819	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383679237	3.489e-05	3.489e-05	3.267e-05	3.713e-05	6.956e-05	2.697e-05	2.438e-05	2.995e-05	2.468e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.687e-05	1.656e-05	6.956e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	4.825e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.051	0.39334	T	0.379	0.16037	T	0.759	0.43487	P	0.289	0.40655	B	0.250912	0.03646	N	1.637620	1	0.08975	N	1.1	0.28011	L	1.61	0.28391	T	-0.56	0.17003	N	0.091	0.06990	-1.0044	0.28636	T	0.056	0.23715	T	10	0.07715979	0.12144	T	0.017747	0.39570	T	0.035	0.08770	0.208	0.12497	0.312306559268	0.30836	0.016877476875472364	0.01642	0.0889039515777	0.10054	0.231372207403	0.02071	T	0.005688	0.05139	T	-0.437228	0.01343	T	-0.684297	0.06725	T	0.153045803308487	0.17344	T	0.752925	0.37950	T	0.07156491	0.15854	0.053727888	0.09108	0.07156491	0.15854	0.053727888	0.09107	-3.454	0.15794	T	.	.	0.087	0.14015	B	.;.;.	.;.;.	1.269794	0.16684	12.70	0.99318308368939501	0.59279	0.06425	0.12430	N	AEFDBCI	0.040283	0.05971	N	-0.67138955684681	0.16840	0.8615124	-0.781331884747042	0.14953	0.7840027	0.999963815724517	0.48965	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.47	-2.59	0.05847	-0.766000	0.04831	-0.600000	0.08275	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.1146:0.4811:0.0:0.4043	6.854	0.23214	440	0.80101	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3329.33	33	chr11	57310138	.	C	T	3329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=950;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.07;SOR=0.878	GT:AD:DP:GQ:PL	0/1:120,134:254:99:3343,0,2852	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	0/1:64,64:128:99:1752,0,1631	16	0	3	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	0/1:50,43:95:99:.:.:955,0,1095:.	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	0/1:49,47:96:99:.:.:976,0,1087:.	2	0	17	0
chr11	62146792	62146792	-	GAGCAGGAGCGGCGG	exonic	INCENP	.	nonframeshift insertion	INCENP:NM_020238:exon14:c.2082_2083insGAGCAGGAGCGGCGG:p.R713_Q714insREQER,INCENP:NM_001040694:exon15:c.2094_2095insGAGCAGGAGCGGCGG:p.R717_Q718insREQER	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.031e-06	7.607e-06	5.761e-06	1.036e-05	5.713e-05	4.31e-06	3.15e-06	9.46e-06	3.54e-06	0	0	0	5.713e-05	0	0	8.456e-06	0	0	1.452e-05	1.424e-05	1.42e-05	1.485e-05	3.186e-05	2.41e-06	9e-07	.	.	3.186e-05	0	0	0	0	0	0	1.514e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	842.29	41	chr11	62146792	.	C	CGAGCAGGAGCGGCGG	842.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=822;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.341;SOR=0.915	GT:AD:DP:GQ:PL	0/1:28,24:52:99:856,0,999	18	0	1	0
chr11	63164619	63164619	C	T	exonic	SLC22A25	.	nonsynonymous SNV	SLC22A25:NM_199352:exon8:c.G1301A:p.R434H	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00530726100459	0.0009	0.000998403	0.0014	0.0008	0.0004	0.0001	0.0006	0.0021	0.0022	0.0003	0.0012548	194	154602	rs148517822	0.0012	0.0013	0.0012	0.0012	0.0016	0.0012	0.0012	0.0013	0.0013	0.0010	0.0004	0.0023	0.0001	0.0007	0.0016	0.0014	0.0013	0.0002	0.0009	0.0009	0.0010	0.0008	0.0013	0.0008	0.0007	0.0011	0.0010	0.0007	0	6.542e-05	0.0023	0	0.0005	0	0.0013	0.0019	0.0008	0.055	0.38407	T	0.013	0.63109	D	0.786	0.44460	P	0.381	0.43873	B	0.000000	0.84330	D	0.000000	0.996312	0.23052	N	2.71	0.79292	M	0.4	0.57261	T	-3.4	0.67014	D	0.161	0.16864	-0.7611	0.57345	T	0.212	0.57227	T	10	0.028595984	0.00991	T	0.005307	0.13587	T	0.187	0.46274	.	.	0.274366138417	0.27033	0.3675374385539885	0.36667	0.0308348949354	0.03189	0.253247618675	0.04117	T	0.317441	0.68889	T	-0.446903	0.01178	T	-0.439349	0.28881	T	0.0401520727896115	0.03718	T	0.713029	0.32487	T	0.46129605	0.64751	0.28108048	0.54087	0.46129605	0.64752	0.28108048	0.54086	-6.82	0.52708	T	.	.	0.107	0.19919	B	.	.	1.322529	0.17269	13.06	0.99293439524960914	0.58362	0.05981	0.11942	N	AEFBI	0.032328	0.03627	N	-0.218316214410544	0.32383	1.825641	-0.405893215812901	0.24824	1.361554	2.82911852935399E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.56	3.61	0.40494	0.536000	0.22838	-0.838000	0.07228	0.455000	0.21489	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.8784:0.0:0.1216	8.196	0.30558	819	0.41190	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	.	.	.	.	.	.	.	.	0.02632	915.33	34	chr11	63164619	.	C	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=713;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.15;SOR=0.499	GT:AD:DP:GQ:PL	0/1:42,39:81:99:929,0,1031	18	0	1	0
chr11	65893113	65893113	G	A	exonic	FOSL1	.	nonsynonymous SNV	FOSL1:NM_001300857:exon2:c.C283T:p.R95C,FOSL1:NM_001300844:exon3:c.C481T:p.R161C,FOSL1:NM_001300856:exon3:c.C391T:p.R131C,FOSL1:NM_005438:exon4:c.C589T:p.R197C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0205814981605	0.0013	0.000199681	0.0009	9.794e-05	0.0004	0	0.0002	0.0013	0	0.0006	0.0008797	136	154602	rs139675472	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0006	0	0	5.62e-05	0.0006	0.0019	0.0010	0.0006	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0010	0	0	9.414e-05	0	0.0015	0.0005	0.0008	0.059	0.37536	T	0.009	0.66756	D	0.0	0.02946	B	0.0	0.01387	B	0.476120	0.04954	N	1.271600	0.932387	0.37020	D	1.59	0.40313	L	-1.11	0.77466	T	-2.53	0.54864	D	0.12	0.20660	-0.7815	0.56218	T	0.325	0.69367	T	10	0.019506037	0.00436	T	0.020581	0.43203	T	0.200	0.48430	.	.	0.670669281473	0.66789	0.3038721835377033	0.30300	0.1303486935	0.14704	0.329323798418	0.14831	T	0.748801	0.93100	D	-0.445645	0.01198	T	-0.426145	0.30375	T	0.0436398491493387	0.04355	T	0.784422	0.47860	T	0.084152944	0.19464	0.073041864	0.15826	0.084152944	0.19464	0.073041864	0.15826	-4.001	0.42637	T	.	.	0.085	0.10208	B	.;.;.	.;.;.	2.789720	0.36664	20.3	0.97426322074737948	0.33900	0.63239	0.32028	D	AEFBHCI	0.507046	0.53751	D	-0.752023982197722	0.14578	0.7273798	-0.714683913267179	0.16596	0.8786545	0.999991893786144	0.74766	0.542737	0.22433	0	0.484254	0.07192	0	0.26897	0.05253	2	0.638787	0.57140	0	.	.	5.2	0.113	0.13937	0.741000	0.25870	2.290000	0.31953	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.344:0.1506:0.5055:0.0	4.670	0.12066	237	0.90758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003067	0.000000	0.02632	324.33	33	chr11	65893113	.	G	A	324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=628;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.438;SOR=1.802	GT:AD:DP:GQ:PL	0/1:14,11:25:99:338,0,349	18	0	1	0
chr11	66295417	66295417	C	T	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.C1171T:p.P391S	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0003	.	0.0076	0	0	0	0	0.0320	0.0135	0.0002	0.0007568	117	154602	rs373152395	0.0015	0.0015	0.0014	0.0016	0.0053	0.0014	0.0014	0.0035	0.0030	0.0003	0.0009	0.0441	0	2.145e-05	0.0053	0.0007	0.0040	0.0004	0.0016	0.0016	0.0018	0.0014	0.0012	0.0014	0.0014	0.0008	0.0007	0.0001	0	0.0012	0.0428	0	0	0.0103	0.0008	0.0057	0.0004	1.0	0.00964	T	0.791	0.04181	T	0.001	0.07471	B	0.007	0.12992	B	0.000096	0.51296	D	0.080949	0.628332	0.32767	D	-1.545	0.00469	N	.	.	.	0.52	0.02853	N	0.039	0.01274	-1.0178	0.24431	T	0.049	0.21065	T	9	0.0018358827	0.00025	T	.	.	.	0.082	0.23913	.	.	0.043077524339	0.03247	0.2910298125544627	0.29015	.	.	0.801923394203	0.82255	T	0.003866	0.03272	T	-0.524435	0.00414	T	-0.566624	0.15760	T	0.00780754122038952	0.00091	T	0.60024	0.22396	T	0.05096164	0.09288	0.08535057	0.19699	0.05096164	0.09287	0.08535057	0.19699	-3.672	0.18905	T	.	.	0.070	0.03625	B	.	.	1.608451	0.20553	14.80	0.60321797752222273	0.06435	0.94879	0.62647	D	AEFDBI	0.142096	0.26445	N	-0.429916054685299	0.24426	1.318801	-0.235570229536928	0.30272	1.703003	0.992884438820962	0.33004	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.87	3.87	0.43823	2.878000	0.48213	3.796000	0.39849	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.915000	0.45038	0.0:0.7788:0.0:0.2212	5.829	0.17824	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004902	0.005952	0.007485	0.000000	0.000000	0.000000	0.006667	0.000000	0.02632	682.34	34	chr11	66295417	.	C	T	682.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=525;ExcessHet=0;FS=2.709;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=2.22;SOR=1.23	GT:AD:DP:GQ:PL	0/1:20,21:41:99:696,0,523	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	0/1:86,51:140:99:396,0,1390	9	0	8	2
chr11	67396333	67396333	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon6:c.G577A:p.D193N,RAD9A:NM_004584:exon9:c.G805A:p.D269N	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00578819951924	.	.	8.245e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs776682970	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.637e-05	1.316e-05	1.314e-05	0	2.694e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.174	0.22486	T	0.286	0.21277	T	0.117	0.26519	B	0.008	0.13708	B	0.995073	0.07927	N	1.002150	0.999999	0.08975	N	1.645	0.42016	L	2.42	0.15376	T	-1.63	0.39119	N	0.131	0.12627	-0.9669	0.37834	T	0.032	0.13679	T	10	0.07999253	0.12934	T	0.005788	0.15042	T	0.048	0.13305	0.24	0.17218	0.218845423259	0.21516	0.3168803577758821	0.31601	0.118899308023	0.13393	0.316490352154	0.12890	T	0.211811	0.57268	T	-0.465119	0.00913	T	-0.809034	0.01687	T	0.0937889888882637	0.11660	T	0.573543	0.20534	T	0.07419655	0.16635	0.036732025	0.03179	0.07419655	0.16634	0.036732025	0.03178	-6.236	0.48213	T	.	.	0.076	0.06159	B	.	.	1.134715	0.15214	11.68	0.98468536997083378	0.41826	0.15299	0.18843	N	AEFDBHCI	0.094816	0.19166	N	-0.858128311805674	0.11850	0.5742117	-0.909708886703462	0.11864	0.6070599	0.999756376969533	0.42595	0.645754	0.44609	0	0.697927	0.68747	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.64	0.25	0.14795	-0.399000	0.07311	1.512000	0.27031	-0.108000	0.15293	0.000000	0.06391	0.890000	0.27818	0.039000	0.14166	0.0881:0.1501:0.457:0.3048	3.225	0.06330	417	0.81662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2131.33	37	chr11	67396333	.	G	A	2131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.006;SOR=0.69	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2145,0,1549	18	0	1	0
chr11	68348021	68348021	A	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon2:c.A266G:p.Q89R	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1493	26	3	0	32	0.010603	.	.	YES	192327	not_provided|not_specified|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	0.0046	0.0199681	0.0174	0.0030	0.0712	0.0956	0.0011	0.0048	0.0156	0.0053	0.0160412	2480	154602	rs41494349	0.0096	0.0096	0.0101	0.0090	0.0768	0.0094	0.0094	0.0746	0.0736	0.0026	0.0606	0.0002	0.0768	0.0014	0.0106	0.0061	0.0113	0.0056	0.0091	0.0091	0.0089	0.0094	0.0812	0.0087	0.0086	0.0748	0.0722	0.0024	0.0132	0.0284	0.0003	0.0812	0.0009	0.0102	0.0054	0.0104	0.0046	0.879	0.02550	T	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.000266	0.46590	U	0.000000	0.997559	0.43985	D	-1.01	0.01154	N	-2.56	0.89627	D	0.36	0.03700	N	0.117	0.10626	-0.7890	0.55788	T	0.035	0.15291	T	10	0.0024719536	0.00037	T	.	.	.	0.255	0.56562	.	.	.	.	0.7059334402387919	0.70535	0.442339813184	0.44202	0.524348080158	0.42239	T	0.270593	0.64287	T	-0.469902	0.00851	T	-0.370281	0.36856	T	0.0210225047742076	0.00803	T	0.80142	0.44736	T	0.111641444	0.26380	0.10058037	0.24053	0.103894375	0.24557	0.123055644	0.29677	0.083	0.00321	T	0.04609604163479369	0.00618	0.176	0.38480	B	.	.	2.211867	0.28218	17.72	0.35867570491121881	0.02275	0.75230	0.36825	D	AEFDBI	0.330168	0.43029	N	-0.602503233227717	0.18869	0.9830987	-0.329694221574866	0.27145	1.504193	0.999816300052879	0.43459	0.706548	0.73137	0	0.653731	0.59785	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	1.985000	0.40289	4.593000	0.43966	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.097	0.64554	503	0.75780	.	.	.	.	.	.	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	0.017623	0.020202	0.024457	0.020468	0.050000	0.025862	0.003049	0.007576	0.02632	2921.33	34	chr11	68348021	.	A	G	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.138;DP=903;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.706;SOR=0.556	GT:AD:DP:GQ:PL	0/1:144,125:269:99:2935,0,3672	18	0	1	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V	.	428	1046	45	3	0	51	0.0237984	.	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	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	2378.33	40	chr11	74034038	.	G	A	2378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=839;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.168;SOR=0.844	GT:AD:DP:GQ:PL	0/1:103,89:192:99:2392,0,2761	18	0	1	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	210.79	33	chr11	76795628	.	CCTG	C	210.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.106;DP=874;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.494;SOR=0.737	GT:AD:DP:GQ:PL	0/1:102,11:113:99:146,0,4243	17	0	2	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	633.1	51	chr11	90086558	.	G	C	633.1	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.591;DP=741;ExcessHet=1.3;FS=178.578;InbreedingCoeff=-0.305;MLEAC=7;MLEAF=0.292;MQ=33.5;MQRankSum=-1.725;QD=3.88;ReadPosRankSum=1.32;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:51:0|1:90086557_G_C:51,0,825:90086557	7	0	5	7
chr11	105008960	105008961	TT	-	exonic	CASP5	.	frameshift deletion	CASP5:NM_001136112:exon2:c.66_67del:p.R23Afs*2,CASP5:NM_004347:exon2:c.27_28del:p.R10Afs*2	.	434	843	218	1	26	246	0.115425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0.0006	0.000705	109	154602	rs775201874	2.916e-05	0.0010	1.494e-05	4.349e-05	0.0003	2.117e-05	1.874e-05	0.0002	0.0002	0	2.82e-05	0	0	4.564e-05	0	1.092e-05	2.036e-05	0.0003	0	9.999e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.47	84	chr11	105008959	.	CTT	C	144.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=985;ExcessHet=0.3672;FS=0.821;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.097;SOR=0.566	GT:AD:DP:GQ:PL	0/1:56,7:66:90:90,0,1964	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|1:108,26:134:15:0|1:106010659_C_G:15,0,3444:106010659	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|1:108,26:134:15:0|1:106010659_C_G:15,0,3444:106010659	1	0	10	8
chr11	113698926	113698926	G	A	exonic	TMPRSS5	.	nonsynonymous SNV	TMPRSS5:NM_001288749:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288750:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288751:exon4:c.C280T:p.L94F,TMPRSS5:NM_001288752:exon4:c.C307T:p.L103F,TMPRSS5:NM_030770:exon4:c.C307T:p.L103F	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0319359563654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260783593	6.949e-06	7.525e-06	2.757e-06	1.121e-05	0.0002	3.51e-06	2.56e-06	3.117e-05	2.118e-05	0	0	0	0	0	0.0002	1.816e-06	1.68e-05	7.297e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.45756	T	0.096	0.39340	T	0.265	0.62824	B	0.125	0.60574	B	0.559152	0.11355	N	0.786555	0.999999	0.25632	N	1.75	0.45442	L	-2.44	0.88924	D	-1.92	0.44657	N	0.227	0.27792	-0.2156	0.77268	T	0.651	0.87854	D	10	0.18059015	0.33251	T	0.031936	0.53895	D	0.271	0.58633	0.346	0.34112	0.87410230946	0.87287	0.20404953518214244	0.20321	0.0778009388178	0.08756	0.29227656126	0.09255	T	0.025477	0.21459	T	0.0279836	0.55454	T	-0.19758	0.54876	T	0.929076015949249	0.59291	D	0.659534	0.26859	T	0.067841865	0.14729	0.11518365	0.27804	0.067841865	0.14728	0.11518365	0.27804	-4.85	0.35168	T	.	.	0.067	0.18331	B	.;.;.;.;.;.	.;.;.;.;.;.	1.471190	0.18953	14.01	0.99170322510304021	0.54355	0.06697	0.12717	N	AEFDBI	0.089453	0.18130	N	-0.243979139336494	0.31343	1.756592	-0.318510697573202	0.27501	1.526454	0.937061059474884	0.27281	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.77	2.83	0.32150	1.167000	0.31456	2.619000	0.33623	0.676000	0.76740	0.002000	0.15269	0.112000	0.22806	0.964000	0.52637	0.0:0.0:0.7731:0.2269	8.670	0.33305	542	0.72843	.;.;.;.;Serine proteases, trypsin domain;Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1494.83	74	chr11	113698926	.	G	A	1494.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.231;DP=737;ExcessHet=0.119;FS=0.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.97;SOR=0.595	GT:AD:DP:GQ:PL	0/1:22,29:51:99:690,0,566	17	0	2	0
chr11	119116025	119116025	C	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382612:exon14:c.C1913G:p.A638G	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0120375693004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0001	2.534e-05	0	0	0.0003	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	60.42	91	chr11	119116025	.	C	G	60.42	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.804;DP=1250;ExcessHet=0.3672;FS=100.253;InbreedingCoeff=-0.147;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.095;SOR=9.779	GT:AD:DP:GQ:PL	0/1:51,18:69:15:15,0,1356	12	0	3	4
chr11	119298497	119298499	CTC	-	exonic	CBL	.	nonframeshift deletion	CBL:NM_005188:exon15:c.2391_2393del:p.S799del	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	838076	See_cases|RASopathy|not_specified|Juvenile_myelomonocytic_leukemia|CBL-related_disorder	.|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs755938138	1.437e-05	1.436e-05	1.089e-05	1.788e-05	1.799e-05	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2370.29	33	chr11	119298496	.	GCTC	G	2370.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=752;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=1.41;SOR=1.086	GT:AD:DP:GQ:PL	0/1:59,61:120:99:2384,0,2294	18	0	1	0
chr11	124023058	124023058	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C46T:p.P16S	.	424	1074	23	1	0	25	0.0115048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0016	0.00359425	0.0035	0	0.0012	0	0	0.0031	0.0055	0.0121	0.0030207	467	154602	rs141446565	0.0024	0.0024	0.0021	0.0028	0.0106	0.0024	0.0024	0.0101	0.0098	0.0003	0.0013	0.0277	0	0	0.0066	0.0014	0.0037	0.0106	0.0017	0.0017	0.0014	0.0020	0.0108	0.0015	0.0014	0.0084	0.0076	0.0003	0	0.0010	0.0230	0	0	0.0034	0.0013	0.0019	0.0108	0.37	0.11550	T	0.715	0.05434	T	0.078	0.24389	B	0.164	0.34953	B	0.004593	0.33588	N	0.136740	0.746328	0.29683	N	-0.165	0.04321	N	7.46	0.00389	T	-1.2	0.30555	N	0.076	0.05037	-1.0218	0.23129	T	0.000	0.00152	T	10	0.0073650777	0.00167	T	.	.	.	0.062	0.17934	.	.	0.143124449307	0.13826	0.16278654458662975	0.16198	0.425027138028	0.42916	0.216108947992	0.01097	T	0.003	0.02708	T	-0.59376	0.00159	T	-0.616277	0.11480	T	0.0144571563771254	0.00292	T	0.227177	0.03016	T	0.04062003	0.05833	0.050784115	0.08042	0.04062003	0.05833	0.050784115	0.08042	-2.928	0.09426	T	.	.	0.144	0.31733	B	.	.	1.536149	0.19703	14.40	0.50710633347697687	0.04432	0.16363	0.19354	N	AEFI	0.081623	0.16518	N	-1.16447645677521	0.05545	0.2530935	-1.11774098304783	0.07361	0.3577643	1.20610408998942E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	2.41	0.28644	-0.247000	0.08884	-5.208000	0.01806	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.5946:0.2816:0.1238	5.317	0.15167	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004343	0.005435	0.002717	0.000000	0.000000	0.000000	0.006369	0.019685	0.02632	3461.33	45	chr11	124023058	.	C	T	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=1305;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.88;MQRankSum=1.72;QD=11.2;ReadPosRankSum=0.842;SOR=0.67	GT:AD:DP:GQ:PL	0/1:162,147:309:99:3475,0,4168	18	0	1	0
chr11	124023543	124023543	G	C	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.G531C:p.L177F	.	427	1082	12	1	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00379393	0.0037	0.0008	0.0006	0.0001	0.0002	0.0003	0.0022	0.0248	0.0011526	30	26028	rs200638744	0.0008	0.0009	0.0004	0.0012	0.0114	0.0007	0.0007	0.0108	0.0106	0.0002	0.0003	0.0004	0.0003	1.872e-05	0.0003	7.465e-05	0.0007	0.0114	0.0009	0.0010	0.0007	0.0011	0.0181	0.0008	0.0007	0.0151	0.0139	0.0003	0	0.0003	0.0012	0.0002	0.0002	0	0.0003	0	0.0181	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.004324	0.33859	N	0.135321	0.998187	0.22304	N	-2.515	0.00055	N	8.98	0.00021	T	5.35	0.00017	N	0.061	0.03283	-0.9347	0.43439	T	0.000	0.00039	T	10	0.020216435	0.00462	T	.	.	.	0.076	0.22200	0.546	0.66015	0.134241683229	0.13084	0.06196820912626835	0.06136	0.312039881988	0.33506	0.216165393591	0.01100	T	8.18E-4	0.00397	T	-0.316559	0.07183	T	-0.692492	0.06246	T	0.0133953807687383	0.00242	T	0.070293	0.00512	T	0.030525284	0.02731	0.04064943	0.04443	0.030525284	0.02731	0.04064943	0.04442	0.309	0.00256	T	.	.	0.082	0.08609	B	.	.	-0.366656	0.02340	0.252	0.10103929153222818	0.00119	0.03072	0.07984	N	AEFI	0.023300	0.01279	N	-1.72417410480341	0.00759	0.03280036	-1.51075349804304	0.02261	0.1037168	2.41365754748268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.48	0.483	0.16030	1.090000	0.30514	-11.923000	0.00564	-3.524000	0.00079	0.989000	0.36753	0.000000	0.08366	0.000000	0.00833	0.0:0.6213:0.29:0.0888	9.126	0.35977	810	0.42761	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	.	.	.	.	.	.	.	.	0.02632	2793.33	473	chr11	124023543	.	G	C	2793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.2;DP=4565;ExcessHet=0;FS=33.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.92;MQRankSum=-17.35;QD=6.56;ReadPosRankSum=-1.308;SOR=2.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,91:426:99:0|1:124023540_T_C:2807,0,13772:124023540	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,45:45:99:2025,136,0	11	2	6	0
chr11	125081899	125081899	G	T	exonic	SLC37A2	.	nonsynonymous SNV	SLC37A2:NM_001145290:exon9:c.G878T:p.R293L,SLC37A2:NM_198277:exon9:c.G878T:p.R293L	.	435	1082	2	1	2	6	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0281997901665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.887e-07	6.84e-07	0	1.384e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.589	0.10501	T	0.014	0.19245	B	0.016	0.23121	B	0.058143	0.22425	N	0.476029	0.999709	0.20638	N	.	.	.	0.07	0.61677	T	-4.32	0.76655	D	0.542	0.58287	-1.0109	0.26635	T	0.115	0.40875	T	10	0.20408231	0.36586	T	0.028	0.50909	D	0.157	0.40909	0.602	0.73346	0.192905019026	0.18896	0.6025232583820913	0.60183	0.183962301553	0.20688	0.324280947447	0.14069	T	0.434991	0.78188	T	-0.0545564	0.43751	T	-0.316143	0.42995	T	0.644657671451569	0.38234	D	0.951205	0.81406	D	0.19676468	0.41516	0.18341689	0.41330	0.19676468	0.41516	0.18341689	0.41329	-5.769	0.44913	T	.	.	0.124	0.27702	B	.;.	.;.	2.137594	0.27216	17.39	0.98052924398902264	0.37882	0.45852	0.27630	N	AEFDBI	0.342645	0.43873	N	-0.808634892670642	0.13089	0.6424108	-0.814050866360883	0.14156	0.7381833	0.747916877478988	0.23313	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.54	0.766	0.17622	2.764000	0.47295	1.450000	0.26598	0.676000	0.76740	0.161000	0.23811	0.908000	0.28083	0.853000	0.40368	0.1372:0.0:0.685:0.1779	6.074	0.19129	900	0.24599	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	785.33	33	chr11	125081899	.	G	T	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=698;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.385;SOR=0.56	GT:AD:DP:GQ:PL	0/1:39,29:68:99:799,0,968	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	0/1:74,62:136:99:1543,0,1758	17	0	2	0
chr12	1828188	1828188	C	T	exonic	LRTM2	.	nonsynonymous SNV	LRTM2:NM_001039029:exon3:c.C40T:p.L14F,LRTM2:NM_001163925:exon3:c.C40T:p.L14F,LRTM2:NM_001163926:exon3:c.C40T:p.L14F	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0241641025656	0.0008	0.000998403	0.0018	0.0022	0.004	0	0	0.0023	0	0.0014	0.0005951	92	154602	rs190717324	0.0014	0.0013	0.0013	0.0014	0.0126	0.0013	0.0013	0.0102	0.0094	0.0004	0.0020	0.0006	2.815e-05	0.0001	0.0126	0.0014	0.0021	0.0011	0.0012	0.0012	0.0012	0.0013	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0	0.0034	0.0019	0.0019	0.0014	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.272	0.39956	B	0.742344	0.09766	N	0.843859	0.958082	0.26237	N	0.805	0.20218	L	0.37	0.79376	T	-0.72	0.20358	N	0.148	0.15046	-0.8995	0.48044	T	0.224	0.58843	T	10	0.006358981	0.00144	T	0.024164	0.47155	T	0.082	0.23913	.	.	0.345684270296	0.34182	0.4051114719795391	0.40427	0.329454099554	0.35053	0.387102901936	0.23261	T	0.015047	0.12694	T	-0.347892	0.04861	T	-0.278667	0.46940	T	0.0360669237889397	0.02992	T	.	.	.	0.17773558	0.38756	0.19920135	0.43790	0.17773558	0.38755	0.19920135	0.43789	-5.649	0.43237	T	.	.	0.062	0.04806	B	.;.;.;.;.	.;.;.;.;.	2.061174	0.26204	17.04	0.99343786160497871	0.60291	0.34503	0.25083	N	AEFDBCI	0.118871	0.23226	N	-0.250643468581472	0.31077	1.739079	-0.23923775848073	0.30143	1.694729	0.693930864176222	0.22620	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.11	3.21	0.35933	2.076000	0.41172	1.603000	0.27594	0.599000	0.40250	0.818000	0.29961	0.998000	0.33993	0.896000	0.43308	0.0:0.8859:0.0:0.1141	7.975	0.29312	808	0.43318	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008287	0.006579	0.007905	0.003448	0.000000	0.045455	0.011450	0.000000	0.02632	832.33	33	chr12	1828188	.	C	T	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.383;SOR=0.586	GT:AD:DP:GQ:PL	0/1:29,36:65:99:846,0,700	18	0	1	0
chr12	2679502	2679502	C	G	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129838:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129839:exon41:c.C5168G:p.A1723G,CACNA1C:NM_001129846:exon41:c.C5117G:p.A1706G,CACNA1C:NM_001167625:exon41:c.C5117G:p.A1706G,CACNA1C:NM_000719:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129829:exon42:c.C5273G:p.A1758G,CACNA1C:NM_001129830:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129833:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129834:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129835:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129836:exon42:c.C5201G:p.A1734G,CACNA1C:NM_001129840:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129841:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129842:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129843:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129844:exon42:c.C5141G:p.A1714G,CACNA1C:NM_001167623:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001167624:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129831:exon43:c.C5234G:p.A1745G,CACNA1C:NM_001129832:exon43:c.C5210G:p.A1737G,CACNA1C:NM_001129827:exon44:c.C5294G:p.A1765G,CACNA1C:NM_199460:exon44:c.C5294G:p.A1765G	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	1	1502	17	2	0	21	0.00694215	.	.	.	99318	Restrictive_cardiomyopathy|Long_QT_syndrome|not_specified|Timothy_syndrome|Brugada_syndrome_3|Neurodevelopmental_disorder_with_hypotonia,_language_delay,_and_skeletal_defects_with_or_without_seizures|Long_qt_syndrome_8|Brugada_syndrome|not_provided|CACNA1C-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:C3661900|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.0800406640615	.	0.000399361	0.0008	0	0.0009	0	0	0.0010	0.005	0.0007	0.0005821	90	154602	rs201492706	0.0006	0.0006	0.0006	0.0006	0.0085	0.0006	0.0006	0.0066	0.0059	0.0004	0.0013	0.0066	0	0	0.0085	0.0004	0.0013	0.0006	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0001	0	0.0010	0.0043	0	0	0	0.0005	0.0024	0.0002	0.059	0.41915	T	0.429	0.17372	T	0.0	0.19406	B	0.0	0.27651	B	0.382812	0.04431	N	1.360050	0.670638	0.30367	N	-0.205	0.04094	N	-3.87	0.96143	D	-1.06	0.28084	N	0.147	0.24135	-0.0047	0.82159	T	0.734	0.90894	D	10	0.0071842372	0.00163	T	0.080041	0.73371	D	0.267	0.58126	.	.	0.590116201424	0.58688	0.4280073591306489	0.42717	0.190823183694	0.21393	0.28883254528	0.08753	T	0.011992	0.19579	T	-0.297371	0.08911	T	-0.245481	0.50263	T	0.0210347424677146	0.00804	T	.	.	.	.	.	.	.	.	.	.	.	-3.897	0.22258	T	.	.	0.100	0.18746	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.393269	0.46987	22.4	0.99379360935189032	0.61803	0.92260	0.55304	D	AEFDBI	0.722037	0.67209	D	-0.324649992842567	0.28214	1.554398	-0.143969151558518	0.33640	1.926487	0.999909732106835	0.45458	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.64	3.72	0.41857	3.621000	0.53951	3.497000	0.38753	-0.305000	0.06155	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.1509:0.7123:0.1368:0.0	10.797	0.45666	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	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	0.011581	0.030303	0.014946	0.020468	0.000000	0.008621	0.003049	0.000000	0.02632	1886.33	38	chr12	2679502	.	C	G	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.807;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.216;SOR=0.778	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1900,0,1238	18	0	1	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|1:65,15:80:99:0|1:4591261_G_C:107,0,2178:4591261	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|1:65,15:80:99:0|1:4591261_G_C:107,0,2178:4591261	15	0	3	1
chr12	4772572	4772572	A	G	exonic	GALNT8	.	nonsynonymous SNV	GALNT8:NM_017417:exon11:c.A1889G:p.D630G	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0229357241757	0.0005	0.000399361	0.0015	9.617e-05	0.0011	0	0.0002	0.0012	0.0066	0.0049	0.0012807	198	154602	rs16931692	0.0009	0.0009	0.0006	0.0011	0.0060	0.0008	0.0008	0.0046	0.0044	8.961e-05	0.0011	0.0016	0	0.0004	0.0060	0.0006	0.0011	0.0050	0.0007	0.0007	0.0006	0.0007	0.0031	0.0006	0.0005	0.0019	0.0016	0.0002	0	0.0013	0.0017	0	0.0004	0.0034	0.0007	0.0009	0.0031	0.018	0.50676	D	0.043	0.49942	D	0.146	0.27821	B	0.038	0.23361	B	0.297485	0.03934	N	1.565220	0.999996	0.08975	N	1.1	0.28011	L	0.53	0.55090	T	-1.46	0.35792	N	0.098	0.07949	-1.0423	0.16621	T	0.096	0.36055	T	10	0.016783774	0.00355	T	0.022936	0.45870	T	0.011	0.01250	.	.	0.3085936734	0.30458	0.34497380515137493	0.34411	0.123760321579	0.13926	0.297297388315	0.09998	T	0.002731	0.02125	T	-0.519147	0.00445	T	-0.517404	0.20559	T	0.011571435639183	0.00175	T	0.40256	0.10281	T	0.09416991	0.22135	0.08650799	0.20048	0.09416991	0.22134	0.08650799	0.20048	-2.684	0.07170	T	.	.	0.297	0.52784	B	.;.	.;.	0.886887	0.12600	9.129	0.97037121622427391	0.32093	0.05499	0.11386	N	AEFDGBI	0.059337	0.11199	N	-0.909165914732136	0.10627	0.5087249	-0.927687417280739	0.11442	0.5829333	0.0131371476669435	0.12421	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	4.23	1.83	0.24279	0.190000	0.16864	0.104000	0.14688	0.756000	0.94297	0.018000	0.19461	0.000000	0.08366	0.028000	0.12845	0.6801:0.2104:0.1096:0.0	4.125	0.09590	793	0.45818	.;Ricin B, lectin 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	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.000000	0.05263	7143.83	43	chr12	4772572	.	A	G	7143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=1078;ExcessHet=0.119;FS=1.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.883;SOR=0.861	GT:AD:DP:GQ:PL	0/1:115,154:269:99:4249,0,2855	17	0	2	0
chr12	9192520	9192520	G	A	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon12:c.C1474T:p.H492Y	.	.	.	.	.	.	.	.	.	.	.	2681635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00346348536966	.	.	2.485e-05	0	0	0	0	4.522e-05	0	0	1.94e-05	3	154602	rs763757326	3.629e-05	3.694e-05	3.269e-05	3.993e-05	0.0002	2.831e-05	2.567e-05	0.0002	0.0001	0	2.238e-05	0.0002	0	0	0	2.071e-05	6.63e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.005	0.11217	B	0.062444	0.22097	N	0.374572	0.999535	0.21028	N	-1.16	0.00885	N	0.15	0.60734	T	2.14	0.00347	N	0.114	0.10198	-0.9777	0.35526	T	0.039	0.16849	T	10	0.08898318	0.15372	T	0.003463	0.07817	T	0.105	0.29889	0.73	0.86373	0.199424873507	0.19547	0.3565088229778413	0.35564	0.0956589233798	0.10807	0.367318868637	0.20446	T	0.014106	0.12071	T	-0.399701	0.02326	T	-0.608319	0.12122	T	0.0177829704202765	0.00507	T	0.440256	0.12156	T	0.029730212	0.02516	0.037632305	0.03456	0.029730212	0.02516	0.037632305	0.03456	-0.121	0.00394	T	.	.	0.061	0.01026	B	.	.	0.744280	0.11139	7.780	0.21645451127296886	0.00834	0.00912	0.03561	N	AEFGI	0.026956	0.02118	N	-1.03282793722681	0.07929	0.3700195	-0.86977904095267	0.12812	0.66127	3.59103613840038E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.23	0.739	0.17473	1.587000	0.36232	3.425000	0.38278	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.227000	0.22653	0.6914:0.0:0.3086:0.0	5.121	0.14193	684	0.59539	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	946.33	34	chr12	9192520	.	G	A	946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.03;ReadPosRankSum=0.184;SOR=0.602	GT:AD:DP:GQ:PL	0/1:14,31:45:99:960,0,386	18	0	1	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	486.94	33	chr12	10407787	.	G	A	486.94	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.302;DP=1788;ExcessHet=0.7564;FS=121.428;InbreedingCoeff=-0.1345;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.177;SOR=10.853	GT:AD:DP:GQ:PL	0/1:121,47:168:99:139,0,1915	14	0	4	1
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	0/1:212,67:279:80:80,0,3542	13	0	4	2
chr12	10449386	10449386	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_007328:exon4:c.C286T:p.R96C,KLRC1:NM_002259:exon5:c.C340T:p.R114C,KLRC1:NM_213657:exon5:c.C286T:p.R96C,KLRC1:NM_001304448:exon6:c.C340T:p.R114C,KLRC1:NM_213658:exon6:c.C340T:p.R114C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00155260095507	7.7e-05	.	1.65e-05	0	8.637e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs376062790	9.587e-06	9.577e-06	9.538e-06	9.636e-06	0.0001	5.56e-06	4.35e-06	5.857e-05	3.763e-05	0.0001	6.743e-05	0	2.522e-05	0	0	4.499e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	4.83e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.217	0.25457	T	0.213	0.31427	T	0.0	0.02946	B	0.001	0.04355	B	0.080989	0.02354	N	1.909130	1	0.08975	N	-1.355	0.00654	N	3.53	0.04852	T	0.6	0.08971	N	0.119	0.13198	-0.9498	0.41006	T	0.009	0.03271	T	10	0.03999743	0.06302	T	0.001553	0.02445	T	0.027	0.05988	.	.	0.319114376414	0.31517	0.24495739834091534	0.24409	0.0451516136419	0.04887	0.255999237299	0.04425	T	0.069055	0.33613	T	-0.499642	0.00574	T	-0.872612	0.00718	T	0.0415094815167737	0.03965	T	0.188781	0.07446	T	0.21267043	0.43626	0.07341309	0.15950	0.21267043	0.43626	0.07341309	0.15950	0.887	0.19880	T	.	.	0.086	0.26576	B	.;.;.;.;.	.;.;.;.;.	0.583094	0.09517	6.293	0.47962006325882134	0.03964	0.00052	0.00397	N	AEFGI	0.024263	0.01474	N	-1.58834710164732	0.01323	0.0576488	-1.56553878378651	0.01871	0.0852886	8.0433383802193E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	-1.09	0.09397	-0.085000	0.11215	-5.319000	0.01763	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6854:0.0:0.3146:0.0	7.960	0.29225	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	487.83	37	chr12	10449386	.	G	A	487.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.074;DP=1375;ExcessHet=0.119;FS=161.765;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=58.78;MQRankSum=1.91;QD=0.85;ReadPosRankSum=1.9;SOR=10.2	GT:AD:DP:GQ:PL	0/1:204,71:275:96:96,0,3343	17	0	2	0
chr12	10506083	10506083	A	G	exonic	EIF2S3B	.	nonsynonymous SNV	EIF2S3B:NM_001357731:exon1:c.A181G:p.I61V,EIF2S3B:NM_001357734:exon1:c.A181G:p.I61V	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00483175917908	.	.	8.239e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs745751402	9.672e-06	9.596e-06	8.255e-06	1.11e-05	4.473e-05	5.61e-06	4.39e-06	7.41e-06	2.77e-06	3.014e-05	4.473e-05	0	0	0	0	7.28e-06	3.341e-05	1.163e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.07	0.35349	T	0.056	0.46632	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	-0.4	0.69287	T	-0.79	0.21860	N	0.366	0.40765	-0.6609	0.62236	T	0.237	0.60487	T	6	0.30067882	0.47614	T	0.004832	0.12098	T	0.189	0.46613	.	.	0.583835501724	0.58056	0.539804775756193	0.53905	0.106002587764	0.11987	.	.	.	0.031082	0.21878	T	-0.145619	0.28998	T	-0.364083	0.37580	T	0.915034413337708	0.57191	D	0.877212	0.59013	D	0.08581286	0.19920	0.07331865	0.15918	0.08581286	0.19920	0.07331865	0.15917	-7.701	0.59015	D	.	.	0.129	0.27553	B	.;.	.;.	1.878866	0.23864	16.18	0.96185959154082301	0.28975	0.60759	0.31288	D	AEGBI	0.214496	0.33996	N	-0.0662621324706456	0.38879	2.283964	-0.134599110310284	0.34007	1.951364	1.75781974594821E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.28	-0.558	0.11206	4.466000	0.59882	6.968000	0.57081	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.71:0.0:0.29:0.0	5.648	0.16878	934	0.15400	.;Transcription factor, GTP-binding domain|Transcription factor, GTP-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	.	.	.	.	.	.	.	.	0.02632	2267.33	34	chr12	10506083	.	A	G	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=1367;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.63;SOR=0.778	GT:AD:DP:GQ:PL	0/1:97,86:183:99:2281,0,2583	18	0	1	0
chr12	11034812	11034812	A	C	exonic	PRH1-TAS2R14	.	nonsynonymous SNV	PRH1-TAS2R14:NM_001316893:exon3:c.T110G:p.L37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	493.33	34	chr12	11034812	.	A	C	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=667;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.9;MQRankSum=-0.383;QD=12.33;ReadPosRankSum=-0.383;SOR=0.336	GT:AD:DP:GQ:PL	0/1:17,23:40:99:507,0,459	18	0	1	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.08333	83.79	53	chr12	21805301	.	G	C	83.79	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.029;DP=778;ExcessHet=0.1259;FS=114.817;InbreedingCoeff=-0.1789;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=0.24;SOR=7.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,14:50:50:0|1:21805301_G_C:50,0,759:21805301	10	0	2	7
chr12	26936607	26936607	A	G	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon2:c.T197C:p.M66T	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0048	0.00638978	0.0074	0.0015	0.0037	0.0032	0.0111	0.0080	0.0077	0.0118	0.0069663	1077	154602	rs2306852	0.0066	0.0066	0.0064	0.0068	0.0116	0.0065	0.0064	0.0110	0.0107	0.0010	0.0033	0.0082	0.0059	0.0129	0.0033	0.0062	0.0058	0.0116	0.0051	0.0051	0.0045	0.0058	0.0166	0.0048	0.0047	0.0136	0.0126	0.0009	0	0.0023	0.0086	0.0039	0.0135	0	0.0062	0.0052	0.0166	0.014	0.54683	D	0.019	0.59159	D	0.369	0.34063	B	0.171	0.35348	B	0.000000	0.84330	D	0.053007	0.999999	0.81001	D	.	.	.	0.95	0.43279	T	-1.24	0.37955	N	0.635	0.64818	-1.0319	0.19841	T	0.063	0.26065	T	10	0.009756386	0.00219	T	.	.	.	0.258	0.56959	.	.	0.043077524339	0.03247	0.7537742756139795	0.75324	0.944164394163	0.72342	0.850435853004	0.89680	D	0.048665	0.28085	T	-0.278995	0.10773	T	-0.163145	0.58067	T	0.0220620341904398	0.00916	T	0.962604	0.86052	D	0.5809308	0.71659	0.33843145	0.59621	0.5809308	0.71660	0.33843145	0.59620	-2.34	0.04779	T	.	.	0.59	0.68466	P	.;.;.	.;.;.	3.894487	0.56683	23.8	0.98439092490391211	0.41486	0.93029	0.57147	D	AEFBCI	0.927638	0.91061	D	0.224913191330774	0.52410	3.415227	0.382767712630281	0.60504	4.238553	0.999999999994909	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	5.27	5.27	0.73797	8.865000	0.91904	11.156000	0.87498	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.502	0.75439	832	0.38914	.;.;.	.	.	.	.	rs2306852	Uncertain significance	0	0	0	0	0	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	0.000000	0.002924	0.000000	0.017241	0.027439	0.007576	0.02632	782.33	34	chr12	26936607	.	A	G	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.986;SOR=0.846	GT:AD:DP:GQ:PL	0/1:21,33:54:99:796,0,474	18	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 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	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:86,24:110:99:273,0,2658	13	0	6	0
chr12	32305795	32305795	T	G	exonic	BICD1	.	nonsynonymous SNV	BICD1:NM_001003398:exon4:c.T678G:p.I226M,BICD1:NM_001354186:exon4:c.T678G:p.I226M,BICD1:NM_001354187:exon4:c.T678G:p.I226M,BICD1:NM_001354188:exon4:c.T678G:p.I226M,BICD1:NM_001354189:exon4:c.T678G:p.I226M,BICD1:NM_001363603:exon4:c.T678G:p.I226M,BICD1:NM_001714:exon4:c.T678G:p.I226M	.	416	1104	1	1	0	3	0.00135685	.	.	.	3294433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.451	0.044986955906	.	.	3.301e-05	0	8.661e-05	0	0	3.003e-05	0	6.058e-05	3.23e-05	5	154602	rs202126519	3.42e-05	3.42e-05	2.722e-05	4.125e-05	0.0007	2.631e-05	2.375e-05	0.0002	0.0001	2.987e-05	6.708e-05	0	0	0	0.0007	2.248e-05	9.934e-05	0.0001	6.57e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.008	0.74150	D	0.983	0.60381	D	0.844	0.60373	P	0.000047	0.53742	D	0.122857	0.994113	0.42166	D	2.695	0.78878	M	0.04	0.62051	T	-2.67	0.57110	D	0.844	0.84817	-0.4294	0.71087	T	0.338	0.70412	T	10	0.70626795	0.72758	D	0.044987	0.61759	D	0.451	0.75143	0.59	0.71874	0.575446509224	0.57213	.	.	1.2539861705	0.81870	0.710658311844	0.68688	T	0.739795	0.92784	D	-0.020465	0.48787	T	0.00712668	0.70797	D	0.626517832279205	0.37474	D	0.939306	0.77145	D	0.23583002	0.46425	0.25492874	0.51166	0.23583002	0.46425	0.25492874	0.51165	-9.415	0.70542	D	.	.	0.242	0.48736	B	.;.	.;.	2.013506	0.25586	16.82	0.99454018213900564	0.65427	0.57999	0.30524	D	AEFDGBCI	0.202564	0.32915	N	-0.0810129916744092	0.38226	2.235583	-0.236053944084016	0.30255	1.701897	0.958214882132625	0.28349	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.33	-1.97	0.07091	-0.309000	0.08185	-1.726000	0.04840	-0.206000	0.08541	0.399000	0.26162	0.000000	0.08366	0.976000	0.56436	0.0:0.1971:0.0:0.8029	11.332	0.48721	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	33	chr12	32305795	.	T	G	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=698;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.267;SOR=0.495	GT:AD:DP:GQ:PL	0/1:39,34:73:99:974,0,1145	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	0/1:40,21:67:99:.:.:159,0,516:.	2	0	16	1
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	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	.	.	.	.	.	.	.	.	0.1111	3901.31	1334	chr12	40487346	.	A	T	3901.31	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.437;DP=19472;ExcessHet=0.7564;FS=26.86;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.67;MQRankSum=-23.42;QD=0.98;ReadPosRankSum=5.23;SOR=3.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:888,90:978:99:0|1:40487326_C_A:919,0,36919:40487326	14	0	4	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3993.93	1334	chr12	40487347	.	G	C	3993.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.22;DP=19442;ExcessHet=0.7564;FS=29.934;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.44;MQRankSum=-23.04;QD=1;ReadPosRankSum=7.14;SOR=3.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:884,90:974:99:0|1:40487326_C_A:931,0,36829:40487326	14	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	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	.	.	.	.	.	.	.	.	0.1316	5607.37	1334	chr12	40487354	.	G	A	5607.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.26;DP=19611;ExcessHet=1.3;FS=27.943;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.47;MQRankSum=-24.28;QD=0.97;ReadPosRankSum=8.34;SOR=3.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:899,90:989:99:0|1:40487326_C_A:888,0,37452:40487326	14	0	5	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	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	.	.	.	.	.	.	.	.	0.1111	4909.93	1334	chr12	40487370	.	C	G	4909.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.03;DP=19470;ExcessHet=0.7564;FS=32.19;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.17;MQRankSum=-23.89;QD=1.22;ReadPosRankSum=8.49;SOR=3.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:882,88:970:99:.:.:513,0,36724:.	14	0	4	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	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	.	.	.	.	.	.	.	.	0.1111	5614.93	1334	chr12	40487373	.	A	G	5614.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.24;DP=19460;ExcessHet=0.7564;FS=24.439;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.08;MQRankSum=-23.96;QD=1.41;ReadPosRankSum=8.25;SOR=3.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:876,88:966:99:.:.:880,0,36470:.	14	0	4	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	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	.	.	.	.	.	.	.	.	0.1111	5568.93	1334	chr12	40487375	.	G	C	5568.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.33;DP=19470;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.02;MQRankSum=-24.04;QD=1.4;ReadPosRankSum=8.14;SOR=3.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:872,88:960:99:0|1:40487326_C_A:545,0,36295:40487326	14	0	4	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6029.93	1334	chr12	40487377	.	C	G	6029.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.56;DP=19511;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.99;MQRankSum=-23.64;QD=1.52;ReadPosRankSum=7.54;SOR=3.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:867,90:957:99:0|1:40487326_C_A:987,0,36087:40487326	14	0	4	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	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	.	.	.	.	.	.	.	.	0.1053	5797.43	1334	chr12	40487388	.	C	G	5797.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.241;DP=19556;ExcessHet=0.7564;FS=27.827;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.14;MQRankSum=-25.65;QD=1.46;ReadPosRankSum=5.84;SOR=3.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:854,88:942:99:0|1:40487326_C_A:601,0,35545:40487326	15	0	4	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	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	.	.	.	.	.	.	.	.	0.1111	6723.93	1334	chr12	40487403	.	G	T	6723.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-6.59;DP=19624;ExcessHet=0.7564;FS=22.397;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.86;MQRankSum=-26.28;QD=1.66;ReadPosRankSum=2.05;SOR=2.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:863,88:951:99:0|1:40487326_C_A:577,0,35930:40487326	14	0	4	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	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	.	.	.	.	.	.	.	.	0.1389	7982.25	1334	chr12	40487418	.	G	C	7982.25	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-5.558;DP=20383;ExcessHet=1.3;FS=14.897;InbreedingCoeff=-0.1692;MLEAC=5;MLEAF=0.139;MQ=55.59;MQRankSum=-28.69;QD=1.4;ReadPosRankSum=-3.687;SOR=2.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:865,86:953:99:.:.:818,0,36318:.	13	0	5	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7676.39	1334	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	7676.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.087;DP=20278;ExcessHet=0.7564;FS=13.759;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.27;MQRankSum=-26.51;QD=1.87;ReadPosRankSum=-6.728;SOR=1.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:885,77:962:99:0|1:40487326_C_A:99,0,36907:40487326	15	0	4	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:881,0:881:54:.:.:2899,0,36560:.	14	0	5	0
chr12	40510221	40510221	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	928	43	0	0	43	0.0226435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs11176952	0.0106	0.0063	0.0104	0.0109	0.0204	0.0104	0.0103	0.0186	0.0179	0.0015	0.0040	0.0037	0.0003	0.0016	0.0148	0.0110	0.0073	0.0204	0.0073	0.0073	0.0079	0.0067	0.0162	0.0070	0.0068	0.0133	0.0122	0.0022	0.0899	0.0027	0.0037	0	0.0015	0.0170	0.0114	0.0062	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	873.33	37	chr12	40510221	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=807;ExcessHet=0;FS=8.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.435;SOR=1.748	GT:AD:DP:GQ:PL	0/1:49,33:82:99:887,0,1198	18	0	1	0
chr12	40512213	40512213	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	961	11	3	0	17	0.00876741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796294409	1.2e-06	0.0004	0	2.598e-06	1.313e-06	0	0	.	.	0	0	0	0	0	0	1.313e-06	0	0	1.744e-05	0.0089	1.712e-05	1.777e-05	0.0003	2.9e-06	1.08e-06	.	.	0	0	8.983e-05	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	91.37	169	chr12	40512213	.	C	T	91.37	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.53;DP=2058;ExcessHet=0.119;FS=1.905;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=59.56;MQRankSum=-11.42;QD=0.33;ReadPosRankSum=-0.121;SOR=0.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:40512182_A_G:53,0,5025:40512182	10	0	2	7
chr12	49033018	49033018	G	C	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C11687G:p.S3896C	Kabuki syndrome 1, Autosomal dominant	33	1486	1	2	0	5	0.00167954	.	.	.	3045043	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.347	0.324754731464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204083573	4.288e-06	4.104e-06	4.231e-06	4.347e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	2.801e-05	0	0	0	0.0002	2.78e-06	0	1.262e-05	6.585e-06	6.572e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.65419	D	.	.	.	0.698	0.41805	P	0.159	0.34693	B	0.248048	0.03628	N	1.732920	0.995513	0.23271	N	0	0.06538	N	-2.84	0.91305	D	-1.09	0.28290	N	0.258	0.29197	-0.2824	0.75475	T	0.541	0.83065	D	10	0.19795388	0.35747	T	0.324755	0.91579	D	0.347	0.66863	.	.	0.265735104816	0.26182	0.5319623093396836	0.53121	0.561950777347	0.52692	0.403527736664	0.25560	T	0.054626	0.29777	T	-0.0289231	0.47574	T	-0.156778	0.58640	T	0.207693964242935	0.20832	T	0.421758	0.11220	T	0.105398566	0.24921	0.0894729	0.20926	0.105398566	0.24920	0.0894729	0.20925	-8.792	0.66348	D	.	.	0.116	0.23325	B	.	.	3.333815	0.45906	22.2	0.8065163240212736	0.13304	0.95545	0.65148	D	AEFDBCI	0.408641	0.48024	N	-0.0112850472618738	0.41345	2.471307	0.0851921491076589	0.43803	2.674564	0.999999994477489	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	3.435000	0.52611	0.000000	0.13247	0.672000	0.70159	0.953000	0.33222	0.988000	0.31051	0.875000	0.41745	0.0:0.0:1.0:0.0	17.378	0.87288	400	0.82730	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2375.33	76	chr12	49033018	.	G	C	2375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=1378;ExcessHet=0;FS=7.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-2.169;SOR=1.227	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2389,0,2184	18	0	1	0
chr12	50204634	50204634	C	T	exonic	LIMA1	.	nonsynonymous SNV	LIMA1:NM_001113547:exon3:c.G302A:p.R101H,LIMA1:NM_001113546:exon6:c.G782A:p.R261H,LIMA1:NM_016357:exon6:c.G782A:p.R261H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.019569804425	.	.	2.473e-05	0	8.646e-05	0	0	1.5e-05	0	6.061e-05	2.59e-05	4	154602	rs750924872	1.3e-05	1.3e-05	1.497e-05	1.1e-05	0.0002	8.31e-06	6.7e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	1.872e-05	0.0002	9.892e-06	3.312e-05	3.478e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.034	0.44358	D	0.566	0.08930	T	0.107	0.26081	B	0.011	0.18489	B	0.020115	0.27110	N	0.396639	0.994076	0.42152	D	1.94	0.52218	M	-1.57	0.85173	D	-1.03	0.27052	N	0.102	0.15187	-0.3299	0.74136	T	0.459	0.78958	T	10	0.16783726	0.31301	T	0.01957	0.41966	T	0.437	0.74164	0.348	0.34436	0.879558807558	0.87838	0.3237102124862355	0.32284	0.272897204048	0.29797	0.466890186071	0.34254	T	0.093629	0.39250	T	0.0209661	0.54511	T	-0.110806	0.62546	T	0.340558304300877	0.26646	T	0.867913	0.56927	D	0.084447436	0.19546	0.057186205	0.10352	0.084447436	0.19546	0.057186205	0.10352	-6.705	0.51848	T	.	.	0.094	0.18828	B	.;.;.;.;.	.;.;.;.;.	3.657479	0.51945	23.2	0.99733966338292712	0.82975	0.83122	0.42267	D	AEFBI	0.243929	0.36512	N	-0.0299826493366779	0.40500	2.406289	0.156352349063843	0.47480	2.977549	0.999999999324146	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	1.155000	0.31311	5.858000	0.50403	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.688	0.88166	491	0.76657	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1539.33	34	chr12	50204634	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.53;DP=745;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.58;SOR=0.762	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1553,0,1296	18	0	1	0
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	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	0.006042	0.000000	0.008152	0.002924	0.000000	0.025862	0.009146	0.000000	0.02632	600.33	34	chr12	52396963	.	G	A	600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.386;SOR=0.736	GT:AD:DP:GQ:PL	0/1:28,24:52:99:614,0,645	18	0	1	0
chr12	53299762	53299762	C	G	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C25G:p.L9V	.	0	225	1	0	0	1	0.00221729	.	.	.	3309753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.000	0.00454795783906	.	.	5.096e-05	0	0.0003	0	0	4.657e-05	0	0	3.88e-05	6	154602	rs764330399	3.079e-05	3.147e-05	3.676e-05	2.475e-05	0.0002	2.347e-05	2.095e-05	5.807e-05	3.953e-05	0	0.0001	0	0	0	0.0002	2.968e-05	8.281e-05	0	3.287e-05	3.283e-05	3.855e-05	2.692e-05	7.243e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	2.941e-05	0	0	0.163	0.23450	T	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	0.099056	0.02530	N	2.017560	1	0.20048	N	0.345	0.11182	N	0.9	0.45248	T	-0.21	0.10308	N	0.105	0.08925	-1.0576	0.12362	T	0.042	0.18076	T	10	0.03822249	0.02227	T	0.004548	0.11220	T	0.000	0.00003	0.322	0.30226	0.0806252709748	0.07271	0.41612489810467324	0.41528	0.150839345589	0.17018	.	.	.	0.073853	0.34797	T	-0.491424	0.00638	T	-0.688627	0.06469	T	0.0299046095841908	0.01974	T	0.357364	0.08134	T	0.042257875	0.06374	0.049895134	0.07721	0.042257875	0.06374	0.049895134	0.07720	-4.581	0.31932	T	.	.	0.083	0.09336	B	.	.	-0.681848	0.01363	0.077	0.6666778955107695	0.08126	0.01583	0.05155	N	ALL	0.238854	0.36091	N	-1.67233458955789	0.00944	0.04090914	-1.72947355947568	0.01013	0.04541677	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-5.8	0.02155	-2.557000	0.00999	-10.278000	0.00719	-1.957000	0.00479	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1096:0.3248:0.1078:0.4578	3.060	0.05823	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1450.33	40	chr12	53299762	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.022;DP=962;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-1.01;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,60:112:99:0|1:53299748_A_G:1464,0,1291:53299748	18	0	1	0
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:92:0|1:70329451_G_A:92,0,1902:70329451	2	0	6	11
chr12	70329453	70329453	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G269A:p.S90N,CNOT2:NM_014515:exon5:c.G269A:p.S90N,CNOT2:NM_001199302:exon6:c.G269A:p.S90N	.	.	.	.	.	.	.	.	.	.	.	3516871	CNOT2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00989993321446	.	.	8.269e-06	0	8.78e-05	0	0	0	0	0	6.5e-06	1	154602	rs771989980	6.355e-06	8.692e-06	4.804e-06	7.882e-06	9.024e-05	2.73e-06	1.98e-06	3.003e-05	1.817e-05	0	9.024e-05	0	0	0	0	4.315e-06	0	0	6.641e-06	6.589e-06	0	1.362e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.68238	D	0.506	0.19721	T	0.18	0.29046	B	0.035	0.22741	B	0.000025	0.55875	D	0.192355	0.947562	0.37573	D	1.525	0.38595	L	0.86	0.46777	T	-0.94	0.49519	N	0.201	0.22357	-1.0377	0.18016	T	0.088	0.33996	T	10	0.12842554	0.24431	T	0.010	0.25788	T	0.085	0.24743	0.133	0.03747	0.50001199887	0.49638	0.3289345986857531	0.32806	0.991300443966	0.74079	0.801624059677	0.82210	T	0.048625	0.28073	T	-0.329497	0.06150	T	-0.513433	0.20962	T	0.161027878522873	0.17947	T	0.89941	0.68582	D	0.13152388	0.30653	0.14989017	0.35372	0.13152388	0.30653	0.14989017	0.35371	-3.621	0.18161	T	.	.	0.146	0.36436	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.355962	0.46308	22.3	0.98825779678181824	0.46869	0.91311	0.53278	D	AEFBI	0.486740	0.52578	N	-0.0885869228343376	0.37891	2.211183	0.12188551889719	0.45670	2.826103	0.999964577184135	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	3.248000	0.51131	9.888000	0.82251	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	1172.09	65	chr12	70329453	.	G	A	1172.09	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.752;DP=1246;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4613;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.911;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:92:0|1:70329451_G_A:92,0,1902:70329451	5	0	2	12
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:58,26:94:36:36,0,1084	7	0	5	7
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	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	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.02632	1570.33	35	chr12	71577986	.	C	G	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.204;DP=751;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.78;SOR=0.814	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1584,0,1605	18	0	1	0
chr12	79690054	79690054	G	A	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon2:c.C191T:p.A64V,PAWR:NM_001354733:exon2:c.C191T:p.A64V,PAWR:NM_002583:exon2:c.C191T:p.A64V	.	434	1086	2	0	0	2	0.000919963	.	.	.	2288011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.138159967926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.264e-06	1.437e-05	6.445e-06	1.018e-05	0.0003	4.18e-06	3.05e-06	6.51e-06	2.43e-06	0	0	0	0	0	0.0003	4.002e-06	6.059e-05	3.924e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.53900	D	0.063	0.45110	T	0.827	0.45966	P	0.424	0.45210	B	0.030997	0.25230	U	0.142348	0.999994	0.08975	N	1.7	0.43825	L	3.13	0.53302	T	-0.67	0.40468	N	0.162	0.17002	-1.0573	0.12439	T	0.069	0.28213	T	9	0.19060493	0.34711	T	0.13816	0.82066	D	0.071	0.20720	0.19	0.10039	0.433491693731	0.42969	0.207918658795988	0.20707	0.445454196181	0.44437	0.860806524754	0.91230	D	0.25691	0.62787	T	-0.0978854	0.36776	T	-0.378382	0.35912	T	0.547994494438171	0.34402	D	0.549745	0.18930	T	0.07445778	0.16711	0.075390086	0.16592	0.07445778	0.16710	0.075390086	0.16591	-5.898	0.45418	T	.	.	0.128	0.27313	B	.;.	.;.	1.798714	0.22860	15.79	0.9950502344593235	0.68264	0.06933	0.12959	N	ALL	0.109283	0.21710	N	-0.530170232609517	0.21110	1.117875	-0.623722782268686	0.18884	1.010797	0.999999999978027	0.74766	0.733237	0.96898	0	0.218748	0.04544	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	2.45	2.45	0.28953	2.342000	0.43648	2.218000	0.31426	0.371000	0.20270	0.070000	0.22072	0.196000	0.23534	0.007000	0.07825	0.0:0.0:1.0:0.0	11.023	0.46942	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	215.33	22	chr12	79690054	.	G	A	215.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=585;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.648;SOR=0.627	GT:AD:DP:GQ:PL	0/1:18,10:28:99:229,0,533	18	0	1	0
chr12	84863448	84863448	A	C	exonic	SLC6A15	.	nonsynonymous SNV	SLC6A15:NM_001146335:exon10:c.T1488G:p.I496M,SLC6A15:NM_182767:exon11:c.T1809G:p.I603M	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0209260710401	.	0.000599042	0.0004	0	0	0.0035	0	4.509e-05	0.0022	0.0008	0.0003558	55	154602	rs3782369	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0042	0.0039	0	3.173e-05	0	0.0047	1.887e-05	0.0002	1.186e-05	0.0003	0.0009	0.0001	0.0001	0.0001	0.0002	0.0035	9.146e-05	7.702e-05	0.0023	0.0019	0	0	0	0	0.0035	9.429e-05	0	2.941e-05	0	0	0.218	0.43393	T	0.223	0.51112	T	0.01	0.15535	B	0.021	0.22546	B	0.000035	0.55875	N	0.153716	0.929137	0.36917	D	2.52	0.73523	M	-0.91	0.75001	T	-0.63	0.25332	N	0.152	0.27077	-0.9464	0.41582	T	0.237	0.60391	T	10	0.008973688	0.00203	T	0.020926	0.43616	T	0.178	0.44724	.	.	0.564616066205	0.56124	0.6751586347429483	0.67453	0.327479396433	0.34885	0.335840880871	0.15815	T	0.111583	0.42719	T	-0.388673	0.02744	T	-0.332551	0.41185	T	0.0305524798855646	0.02075	T	0.790821	0.43180	T	0.07642097	0.17283	0.05876796	0.10917	0.07642097	0.17283	0.05876796	0.10917	-7.693	0.59306	D	.	.	0.084	0.23675	B	.;.;.	.;.;.	2.137009	0.27209	17.38	0.94369472055884651	0.24733	0.66556	0.33120	D	AEFBI	0.169654	0.29650	N	-0.474581416631902	0.22916	1.226958	-0.423505451736964	0.24309	1.330478	2.28731756203297E-5	0.03498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.71	-2.79	0.05494	0.010000	0.13140	1.786000	0.28758	0.691000	0.84096	0.703000	0.28654	1.000000	0.68203	0.993000	0.69303	0.4966:0.2107:0.1905:0.1022	2.136	0.03532	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	190.33	32	chr12	84863448	.	A	C	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.563;DP=620;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.979;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,8:21:99:204,0,344	18	0	1	0
chr12	102894758	102894758	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon3:c.C329T:p.S110L,PAH:NM_001354304:exon4:c.C329T:p.S110L	Phenylketonuria, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	108387	Phenylketonuria|not_provided|not_specified	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MedGen:C3661900|MedGen:CN169374	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.717	0.74157850218	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199475627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.78490	T	0.303	0.41573	T	0.995	0.67487	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-5.82	0.99477	D	-2.97	0.64593	D	0.865	0.88798	1.097	0.99552	D	0.971	0.99091	D	10	0.8775118	0.87048	D	0.741579	0.97931	D	0.717	0.89966	0.739	0.87147	0.989255783203	0.98913	0.9366112122716002	0.93641	0.174382207677	0.19638	0.597045183182	0.52487	T	0.803764	0.95024	D	0.493634	0.94099	D	0.471295	0.94022	D	0.996010303497314	0.88504	D	0.947705	0.86792	D	0.6860279	0.77295	0.50490415	0.71383	0.7234998	0.79358	0.5213047	0.72344	-9.733	0.72297	D	0.11906291077299093	0.11051	0.220	0.66643	B	.;.;.;.	.;.;.;.	4.780102	0.77470	26.7	0.99921596244950794	0.98787	0.98887	0.88185	D	AEFBI	0.976166	0.99659	D	0.751359590905784	0.82994	7.902188	0.811781671974156	0.90600	10.48182	0.999999999999998	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	8.899000	0.92172	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	717	0.55835	Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;ACT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	33	chr12	102894758	.	G	A	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.614;DP=720;ExcessHet=0;FS=4.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.984;SOR=0.384	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1246,0,1288	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGAT:p.M327Ifs*9	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGAT	2004.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,12:118:99:.:.:175,0,4395:.	18	0	1	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	0/1:13,33:46:99:791,0,202	17	0	2	0
chr12	106815141	106815141	C	T	exonic	RIC8B	.	nonsynonymous SNV	RIC8B:NM_001330146:exon2:c.C530T:p.T177M,RIC8B:NM_001351363:exon2:c.C530T:p.T177M,RIC8B:NM_001330145:exon3:c.C578T:p.T193M,RIC8B:NM_001330147:exon3:c.C578T:p.T193M,RIC8B:NM_001351366:exon3:c.C314T:p.T105M,RIC8B:NM_001351367:exon3:c.C314T:p.T105M,RIC8B:NM_018157:exon3:c.C578T:p.T193M,RIC8B:NM_001351361:exon4:c.C554T:p.T185M,RIC8B:NM_001351362:exon4:c.C554T:p.T185M,RIC8B:NM_001351364:exon4:c.C458T:p.T153M	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0300850452578	0.0062	0.00219649	0.0055	0.0011	0.0021	0	0.0041	0.0079	0.0044	0.0042	0.0055497	858	154602	rs144718130	0.0073	0.0073	0.0073	0.0072	0.0077	0.0072	0.0071	0.0076	0.0075	0.0009	0.0020	0.0291	0	0.0052	0.0049	0.0077	0.0080	0.0044	0.0055	0.0056	0.0058	0.0052	0.0077	0.0052	0.0051	0.0072	0.0070	0.0015	0.0066	0.0023	0.0346	0	0.0059	0.0034	0.0077	0.0024	0.0054	0.002	0.72154	D	0.034	0.63918	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.086040	1	0.81001	D	1.915	0.51223	L	0.78	0.49358	T	-2.68	0.57275	D	0.678	0.68516	-0.7077	0.60065	T	0.231	0.59632	T	10	0.008906454	0.00202	T	0.030085	0.52471	D	0.204	0.49076	.	.	0.15499578495	0.15088	0.5005013620517057	0.49971	1.53778767569	0.87672	0.643066287041	0.59000	T	0.037384	0.33252	T	-0.27047	0.11705	T	-0.148964	0.59336	T	0.0178634694839841	0.00514	T	0.914409	0.70605	D	0.39497113	0.60383	0.43101045	0.66732	0.39497113	0.60383	0.43101045	0.66733	-8.02	0.64845	D	.	.	0.131	0.28145	B	.;.;.;.	.;.;.;.	4.912373	0.80831	27.4	0.99917223858739768	0.98518	0.97280	0.73763	D	AEFBI	0.450153	0.50467	N	0.712874322352948	0.80475	7.302711	0.71639421673419	0.83624	8.070709	0.999999999993313	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	3.754000	0.54903	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.296	0.98558	408	0.82256	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	4424.83	33	chr12	106815141	.	C	T	4424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=922;ExcessHet=0.119;FS=0.405;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.22;SOR=0.649	GT:AD:DP:GQ:PL	0/1:74,80:154:99:2242,0,1844	17	0	2	0
chr12	120178868	120178868	G	A	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon6:c.C509T:p.T170M	.	428	1091	3	0	0	3	0.001373	.	.	.	2337737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0126223096684	.	.	4.167e-05	0	0	0.0001	0	3.013e-05	0	0.0001	4.53e-05	7	154602	rs368315746	3.284e-05	3.283e-05	4.084e-05	2.475e-05	0.0002	2.543e-05	2.249e-05	2.201e-05	1.942e-05	5.974e-05	6.708e-05	0	0	0	0.0002	3.058e-05	4.967e-05	5.797e-05	5.914e-05	5.911e-05	0.0001	1.345e-05	0.0003	3.078e-05	2.21e-05	0.0001	8.293e-05	2.413e-05	0	0.0003	0	0	0	0	2.94e-05	0.0005	0	0.226	0.18562	T	0.212	0.26549	T	.	.	.	.	.	.	0.000050	0.53742	D	0.188889	0.716608	0.29962	N	.	.	.	3.53	0.04852	T	-0.56	0.17003	N	0.446	0.48411	-0.9937	0.31643	T	0.008	0.02679	T	10	0.17004627	0.31646	T	0.012622	0.31353	T	0.053	0.14996	0.43	0.47843	0.043077524339	0.03247	0.14771819605067113	0.14693	0.292073870543	0.31614	0.404083818197	0.25637	T	.	.	.	-0.417018	0.01788	T	-0.600126	0.12801	T	0.0700873658061028	0.08663	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	3.546636	0.49836	22.8	0.98209968997094799	0.39202	0.92803	0.56584	D	AEFDBCI	0.439999	0.49874	N	-0.0441284013261063	0.39865	2.357951	0.0940643828666993	0.44250	2.71036	0.118860481092234	0.16832	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	3.69	0.41483	2.799000	0.47586	8.011000	0.76190	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1189:0.4992:0.3818	7.652	0.27519	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1978.33	34	chr12	120178868	.	G	A	1978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=825;ExcessHet=0;FS=1.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.925;SOR=0.855	GT:AD:DP:GQ:PL	0/1:93,79:172:99:1992,0,2249	18	0	1	0
chr12	120557565	120557565	C	T	exonic	RNF10	.	nonsynonymous SNV	RNF10:NM_001330474:exon6:c.C850T:p.H284Y,RNF10:NM_014868:exon6:c.C850T:p.H284Y	.	428	1093	1	0	0	1	0.000457247	.	.	.	2368475	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.252	0.0162888684166	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765765405	2.668e-05	2.736e-05	1.633e-05	3.713e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	2.236e-05	0	2.519e-05	0	0	6.295e-06	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.46910	D	0.074	0.42976	T	0.066	0.26116	B	0.052	0.32387	B	0.000042	0.53742	D	0.157432	1	0.08975	N	1.935	0.51832	L	-2.47	0.88997	D	-2.4	0.53736	N	0.202	0.33140	-0.2130	0.77335	T	0.575	0.84639	D	10	0.13349453	0.25408	T	0.016289	0.37474	T	0.252	0.56159	0.354	0.35408	0.532691155838	0.52918	0.4945206706394632	0.49373	0.252503775226	0.27817	0.230687901378	0.02019	T	0.221167	0.58467	T	-0.204357	0.20179	T	-0.239172	0.50880	T	0.129515288819056	0.15337	T	0.89941	0.66280	D	0.17177565	0.37831	0.17449594	0.39850	0.17177565	0.37831	0.17449594	0.39849	-7.733	0.59334	D	.	.	0.098	0.18080	B	.;.	.;.	3.600484	0.50854	23.0	0.98443054178126499	0.41531	0.63866	0.32224	D	AEFBI	0.371971	0.45779	N	-0.126845612923404	0.36226	2.091112	-0.0124733458032086	0.39151	2.316984	0.999993909820351	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.04	5.15	0.70287	4.102000	0.57509	5.910000	0.51009	0.599000	0.40250	0.864000	0.30684	0.997000	0.33255	0.994000	0.71098	0.0:0.9339:0.0:0.0661	15.748	0.77725	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1985.33	37	chr12	120557565	.	C	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=875;ExcessHet=0;FS=1.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.58;SOR=0.804	GT:AD:DP:GQ:PL	0/1:97,75:172:99:1999,0,2662	18	0	1	0
chr12	122206667	122206667	G	A	exonic	B3GNT4	.	nonsynonymous SNV	B3GNT4:NM_001330492:exon2:c.G341A:p.S114N,B3GNT4:NM_030765:exon3:c.G416A:p.S139N	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00269714278124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.581	0.08476	T	0.002	0.09854	B	0.007	0.12992	B	0.022348	0.26651	N	0.329119	1	0.08975	N	-0.24	0.03895	N	0.94	0.43672	T	0.55	0.02853	N	0.071	0.04426	-1.0656	0.10409	T	0.051	0.21883	T	10	0.1209864	0.22927	T	0.002697	0.05550	T	0.024	0.04979	0.403	0.43408	0.394837016283	0.39092	0.342173162330503	0.34130	0.0111119512889	0.01037	0.670337915421	0.62885	T	0.010468	0.09450	T	-0.289032	0.09733	T	-0.652951	0.08748	T	0.208402395248413	0.20870	T	0.660434	0.26965	T	0.1407227	0.32456	0.103310645	0.24784	0.1407227	0.32456	0.103310645	0.24783	-3.557	0.17239	T	.	.	0.117	0.23605	B	.;.;.	.;.;.	1.330599	0.17359	13.12	0.95727296281055663	0.27661	0.20816	0.21179	N	AEFDBHCI	0.120001	0.23396	N	-0.63823699634185	0.17803	0.9192746	-0.542492953872185	0.21005	1.13431	0.999994383161048	0.74766	0.413467	0.06321	2	0.573116	0.20632	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	5.0	2.06	0.25932	0.989000	0.29229	5.169000	0.47821	0.676000	0.76740	0.037000	0.20830	1.000000	0.68203	0.802000	0.37819	0.3677:0.2049:0.4274:0.0	3.264	0.06456	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1996.33	33	chr12	122206667	.	G	A	1996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.597;DP=877;ExcessHet=0;FS=3.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.343;SOR=0.884	GT:AD:DP:GQ:PL	0/1:67,77:144:99:2010,0,1993	18	0	1	0
chr12	122615485	122615485	A	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon57:c.A5989C:p.K1997Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00943117274299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.30656	T	0.033	0.55341	D	0.97	0.58077	D	0.857	0.61644	P	0.000005	0.62929	D	0.166511	0.998947	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-1.38	0.43334	N	0.352	0.39356	-1.0006	0.29746	T	0.149	0.47505	T	10	0.34580562	0.51547	T	0.009431	0.24716	T	0.193	0.47281	0.563	0.68364	0.539612970712	0.53614	0.27815235297540963	0.27728	0.115907379964	0.13073	0.424134016037	0.28405	T	0.02305	0.18717	T	-0.0724529	0.40933	T	-0.34185	0.40135	T	0.969832837581635	0.68732	D	0.906409	0.68582	D	0.18983267	0.40542	0.14710626	0.34826	0.18983267	0.40542	0.14710626	0.34825	-3.421	0.15340	T	.	.	0.132	0.28377	B	.;.;.	.;.;.	4.624262	0.73463	26.0	0.9944728872124966	0.65071	0.99240	0.93297	D	AEFBI	0.698582	0.65621	D	0.684959664475232	0.78645	6.913845	0.72222128592394	0.84066	8.189662	0.999443879354605	0.39736	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.17	6.17	0.99707	5.199000	0.64988	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.484	0.84016	633	0.64743	RZZ complex, subunit KNTC1/ROD, C-terminal;RZZ complex, subunit KNTC1/ROD, C-terminal;RZZ complex, subunit KNTC1/ROD, 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	135.33	11	chr12	122615485	.	A	C	135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=567;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.64;ReadPosRankSum=0.445;SOR=1.445	GT:AD:DP:GQ:PL	0/1:17,7:24:99:149,0,505	18	0	1	0
chr12	123176748	123176748	T	C	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon16:c.A2396G:p.H799R	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.00397152407045	0.0029	0.00339457	0.0029	0.0008	0.0017	0	0.0026	0.0039	0.0033	0.0029	0.0031824	492	154602	rs117480466	0.0038	0.0038	0.0037	0.0038	0.0042	0.0037	0.0037	0.0041	0.0041	0.0006	0.0019	0.0008	0	0.0037	0.0019	0.0042	0.0030	0.0032	0.0030	0.0030	0.0030	0.0030	0.0046	0.0028	0.0027	0.0041	0.0040	0.0007	0.0296	0.0024	0.0006	0	0.0031	0.0034	0.0046	0.0019	0.0031	.	.	.	0.059	0.53788	T	.	.	.	.	.	.	0.000162	0.48594	D	0.135355	0.999954	0.52396	D	2.76	0.80626	M	.	.	.	.	.	.	0.523	0.55280	-0.1377	0.79221	T	0.376	0.73408	T	10	0.011816144	0.00257	T	0.003972	0.09400	T	0.388	0.70440	.	.	0.626812710122	0.62377	0.19920550495450146	0.19837	.	.	0.534813821316	0.43713	T	0.289603	0.71821	T	-0.251274	0.13941	T	-0.13138	0.60856	T	0.020585498997047	0.00758	T	0.890111	0.62362	D	0.13861176	0.32050	0.18452968	0.41510	0.13861176	0.32050	0.18452968	0.41509	-8.176	0.62263	D	.	.	0.280	0.52068	B	.;.	.;.	3.612804	0.51089	23.0	0.99787476199542713	0.87396	0.93419	0.58167	D	AEFBI	0.256412	0.37534	N	0.635589557730695	0.75438	6.30606	0.604948680576901	0.75296	6.285944	0.47367836779095	0.20728	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	5.32	0.75377	3.329000	0.51774	4.210000	0.42525	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.528	0.61068	529	0.73716	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	971.33	36	chr12	123176748	.	T	C	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.338;SOR=0.788	GT:AD:DP:GQ:PL	0/1:42,42:84:99:985,0,1022	18	0	1	0
chr12	123389537	123389537	A	G	exonic;splicing	KMT5A;KMT5A	NM_001324504:exon3:c.27-2A>G	nonsynonymous SNV	KMT5A:NM_001367386:exon2:c.A97G:p.R33G,KMT5A:NM_020382:exon2:c.A115G:p.R39G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.907669739772	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	.	2.103e-06	3.694e-05	0	4.457e-06	0.0005	3.5e-07	1.3e-07	.	.	0	0	0	0	0	0.0005	0	2.923e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.189	0.33000	T	0.0	0.02946	B	0.001	0.04355	B	0.007754	0.31217	U	0.115461	0.992452	0.23879	N	.	.	.	-5.05	0.98611	D	-0.49	0.15578	N	0.13	0.12484	0.264	0.86978	D	0.840	0.94635	D	10	0.14621931	0.27725	T	0.90767	0.99309	D	0.294	0.61388	0.256	0.19689	0.0675242888579	0.06100	0.3376630383754939	0.33679	0.40466606812	0.41362	0.83784198761	0.87765	D	.	.	.	0.0264722	0.55251	T	-0.199751	0.54670	T	0.478941023349762	0.31858	T	0.467453	0.17034	T	.	.	.	.	.	.	.	.	-8.029	0.61268	D	.	.	0.291	0.52219	B	.;.	.;.	4.594300	0.72701	25.9	0.96582558883335334	0.30340	0.13301	0.17778	N	AEFDBCI	0.091231	0.18480	N	-0.661262429968613	0.17133	0.8790297	-0.651581439516181	0.18177	0.9698619	0.999999993727272	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	1.77	-2.02	0.06981	-0.318000	0.08091	4.788000	0.44881	0.452000	0.21348	0.219000	0.24524	1.000000	0.68203	0.996000	0.76049	0.4624:0.312:0.2256:0.0	2.258	0.03811	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	203.35	8	chr12	123389537	.	A	G	203.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.269;DP=252;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.381;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,8:11:58:217,0,58	18	0	1	0
chr12	123632402	123632402	T	C	exonic	EIF2B1	.	nonsynonymous SNV	EIF2B1:NM_001414:exon2:c.A58G:p.M20V	Leukoencephalopathy with vanishing white matter, Autosomal recessive	2	1509	10	1	0	12	0.0039604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0223271673525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	2.987e-05	0	0	2.519e-05	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.08310	T	1.0	0.05256	T	0.0	0.07471	B	0.001	0.06944	B	0.000021	0.62929	N	0.188053	0.948057	0.41306	D	-0.315	0.03579	N	-3.57	0.94904	D	-0.58	0.20576	N	0.132	0.15046	-0.4630	0.69967	T	0.491	0.80673	T	10	0.07263377	0.10869	T	0.022327	0.45207	T	0.290	0.60924	0.473	0.54859	0.754392735272	0.75216	0.37401923036828183	0.37315	1.17994158053	0.79994	0.290626674891	0.09013	T	0.340319	0.70936	T	0.0411043	0.57189	T	-0.178733	0.56641	T	0.148655250668526	0.16995	T	0.829517	0.49484	T	0.094777785	0.22291	0.07396527	0.16131	0.094777785	0.22290	0.07396527	0.16130	-2.917	0.25819	T	0.0995479685710039	0.07244	0.081	0.08320	B	.;.;.	.;.;.	1.381182	0.17928	13.45	0.94133713824277498	0.24319	0.71340	0.34971	D	AEFDBI	0.169828	0.29669	N	-0.524368535742626	0.21295	1.129018	-0.302322134418729	0.28025	1.559305	0.999995529408767	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.38	3.03	0.34070	1.749000	0.37946	1.440000	0.26519	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.4918:0.0:0.5082	4.609	0.11779	338	0.86082	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	652.33	43	chr12	123632402	.	T	C	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=760;ExcessHet=0;FS=3.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.187;SOR=0.704	GT:AD:DP:GQ:PL	0/1:39,33:72:99:666,0,893	18	0	1	0
chr12	124402512	124402512	-	GCTGCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1528_1529insAGCAGCAGCAGCAGC:p.Q509_P510insQQQQQ,NCOR2:NM_001206654:exon16:c.1528_1529insAGCAGCAGCAGCAGC:p.Q509_P510insQQQQQ,NCOR2:NM_006312:exon16:c.1531_1532insAGCAGCAGCAGCAGC:p.Q510_P511insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35831183	0.0010	0.0010	0.0010	0.0011	0.0038	0.0010	0.0010	0.0026	0.0025	0.0010	0.0007	0.0028	0.0001	0.0016	0.0038	0.0009	0.0009	0.0029	0.0010	0.0010	0.0010	0.0010	0.0024	0.0009	0.0008	0.0013	0.0010	0.0010	0	0.0003	0.0035	0.0004	0.0026	0	0.0008	0	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	26976.9	58	chr12	124402512	.	G	GGCTGCTGCTGCTGCT	26976.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=1396;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.81;ReadPosRankSum=0.377;SOR=0.763	GT:AD:DP:GQ:PL	0/1:0,23:55:99:2234,1267,1254	18	0	1	0
chr12	125134065	125134065	G	A	exonic	AACS	.	nonsynonymous SNV	AACS:NM_001319840:exon14:c.G1489A:p.G497S,AACS:NM_001319839:exon15:c.G1612A:p.G538S,AACS:NM_023928:exon15:c.G1612A:p.G538S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.239459598602	.	.	2.579e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs757577125	1.3e-05	1.3e-05	8.168e-06	1.788e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.046461	1	0.81001	D	.	.	.	-0.11	0.64445	T	-5.67	0.87143	D	0.956	0.96531	0.504	0.90597	D	0.613	0.86309	D	10	0.9860214	0.98888	D	0.23946	0.88631	D	0.749	0.91371	0.956	0.99519	0.686724078157	0.68404	0.7942513808147401	0.79378	0.55452773041	0.52192	0.728894948959	0.71345	T	0.453163	0.79321	T	0.184231	0.72431	D	0.286537	0.87471	D	0.929163217544556	0.59306	D	0.979862	0.93146	D	0.92758155	0.93995	0.8931325	0.94489	0.92758155	0.93995	0.8931325	0.94489	-11.414	0.81880	D	.	.	0.881	0.81512	P	.	.	5.447563	0.91008	32	0.99877751065531573	0.95410	0.98971	0.89357	D	AEFDBI	0.884143	0.81360	D	0.668768264094227	0.77588	6.703671	0.648894732231765	0.78527	6.894485	0.999975964731399	0.50053	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.727631	0.95156	0	.	.	5.75	4.86	0.62624	8.784000	0.91456	11.724000	0.94868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0689:0.0:0.9311:0.0	14.878	0.70144	976	0.04745	AMP-dependent synthetase/ligase	.	.	.	.	.	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	1450.33	33	chr12	125134065	.	G	A	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.455;DP=739;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.693;SOR=0.767	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1464,0,1391	18	0	1	0
chr12	125650766	125650766	G	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon3:c.G248A:p.R83H,TMEM132B:NM_001366854:exon7:c.G1727A:p.R576H,TMEM132B:NM_052907:exon7:c.G1712A:p.R571H	.	.	.	.	.	.	.	.	.	.	.	3616752	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0234836904265	7.7e-05	0.000199681	4.142e-05	0.0003	0	0	0	2.999e-05	0	0	3.88e-05	6	154602	rs374760768	4.104e-05	4.104e-05	3.403e-05	4.813e-05	4.946e-05	3.244e-05	2.919e-05	3.89e-05	3.49e-05	2.987e-05	2.236e-05	0	2.519e-05	1.872e-05	0	4.946e-05	1.656e-05	0	3.283e-05	4.593e-05	1.285e-05	5.371e-05	4.81e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0	0.015	0.52492	D	0.024	0.56640	D	0.083	0.24734	B	0.027	0.21085	B	0.000346	0.45440	D	0.098253	0.999991	0.58761	D	2.78	0.81115	M	0.54	0.54911	T	-3.92	0.73151	D	0.694	0.69913	-0.9017	0.47814	T	0.154	0.48395	T	10	0.19912246	0.35909	T	0.023484	0.46453	T	0.190	0.46781	.	.	0.166414681773	0.16258	0.5424032047070056	0.54165	1.00474942747	0.74539	0.706605672836	0.68102	T	0.264767	0.63658	T	-0.208086	0.19649	T	-0.257242	0.49099	T	0.707202970981598	0.41064	D	0.943806	0.87125	D	0.17087223	0.37688	0.14304848	0.34011	0.17087223	0.37688	0.14304848	0.34010	-9.346	0.72662	D	.	.	0.099	0.21766	B	.;.	.;.	5.235470	0.87887	29.4	0.99900690821979743	0.97275	0.91493	0.53647	D	AEFBHI	0.315130	0.41979	N	-0.332218872655764	0.27931	1.536438	-0.268833305029947	0.29130	1.629664	0.00338464593718881	0.10088	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.620846	0.47308	0	.	.	5.14	3.32	0.37134	4.478000	0.59963	7.431000	0.58793	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1476:0.0:0.8524:0.0	11.312	0.48604	939	0.14249	Transmembrane protein family 132, middle 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	1778.33	44	chr12	125650766	.	G	A	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.879;SOR=0.681	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1792,0,1243	18	0	1	0
chr12	130456574	130456574	C	G	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G229C:p.A77P,RIMBP2:NM_001351227:exon6:c.G280C:p.A94P,RIMBP2:NM_001351226:exon7:c.G280C:p.A94P,RIMBP2:NM_001351228:exon7:c.G280C:p.A94P,RIMBP2:NM_001351229:exon7:c.G280C:p.A94P,RIMBP2:NM_001351230:exon7:c.G280C:p.A94P,RIMBP2:NM_001351231:exon7:c.G280C:p.A94P,RIMBP2:NM_001351232:exon7:c.G280C:p.A94P	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00343772307036	0.0002	0.000399361	0.0005	9.733e-05	8.669e-05	0	0	0.0003	0.0034	0.0022	0.0003816	59	154602	rs201638148	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	0	0.0002	7.657e-05	0	0	0.0009	0.0002	0.0005	0.0017	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	9.627e-05	0	6.534e-05	0	0	0	0	0.0003	0.0005	0.0019	0.037	0.43085	D	0.207	0.26969	T	0.895	0.49247	P	0.502	0.47702	P	0.000995	0.40743	D	0.166924	1	0.27994	N	2.36	0.67893	M	2.07	0.20387	T	-0.8	0.22078	N	0.371	0.41261	-1.0571	0.12491	T	0.062	0.25815	T	10	0.014695227	0.00309	T	0.003438	0.07755	T	0.083	0.24192	.	.	0.427024044652	0.42321	0.2062256065059655	0.20539	0.359462052903	0.37640	0.311935603619	0.12200	T	0.024769	0.18650	T	-0.470436	0.00845	T	-0.45531	0.27111	T	0.0248071840268435	0.01247	T	0.570643	0.20399	T	0.12527694	0.29371	0.1407031	0.33530	0.12527694	0.29371	0.1407031	0.33530	-2.8	0.08184	T	.	.	0.087	0.11317	B	.;.;.;.	.;.;.;.	1.668903	0.21281	15.13	0.97834097804482223	0.36279	0.81314	0.40744	D	AEFDBI	0.600301	0.59298	D	-0.0114164086729131	0.41337	2.470856	-0.133380780922016	0.34054	1.954644	1.86389875425032E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.18	3.26	0.36471	2.121000	0.41601	-0.426000	0.09253	0.595000	0.32841	0.963000	0.33788	0.000000	0.08366	0.045000	0.14751	0.1513:0.7648:0.0:0.0839	8.572	0.32733	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	0.001512	0.000000	0.001359	0.002941	0.000000	0.008621	0.000000	0.000000	0.02632	815.33	35	chr12	130456574	.	C	G	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.147;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-0.256;SOR=0.623	GT:AD:DP:GQ:PL	0/1:79,38:117:99:829,0,2036	18	0	1	0
chr12	132062544	132062544	-	GC	exonic	EP400	.	frameshift insertion	EP400:NM_015409:exon47:c.8177_8178insGC:p.Q2727Hfs*51	.	338	1176	6	0	2	8	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-05	0.0001	0	0	0	3.114e-05	0	0.0003	3.84e-05	1	26028	rs60930033	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0014	0.0014	0.0010	0.0004	0.0005	5.158e-05	0	0.0007	6.996e-05	0.0005	0.0017	0.0008	0.0008	0.0008	0.0008	0.0036	0.0007	0.0007	0.0023	0.0019	0.0014	0	0.0024	0.0006	0	0	0	0.0001	0.0015	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	724.29	36	chr12	132062544	.	A	AGC	724.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.886;DP=1685;ExcessHet=0;FS=5.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=3.45;SOR=1.056	GT:AD:DP:GQ:PL	0/1:86,32:118:99:738,0,3477	18	0	1	0
chr12	132062545	132062545	-	G	exonic	EP400	.	frameshift insertion	EP400:NM_015409:exon47:c.8178_8179insG:p.Q2727Afs*256	.	350	1097	62	8	5	83	0.034331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	9.251e-05	0	0	6.748e-05	0	0.0006	0.0001294	20	154602	.	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0001	0.0011	0.0011	0.0016	0.0002	0.0006	6.286e-05	0	0.0009	6.311e-05	0.0003	0.0014	0.0006	0.0006	0.0006	0.0006	0.0033	0.0005	0.0005	0.0019	0.0015	0.0015	0	0.0009	0.0003	0	0	0	9.95e-05	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	2751.46	36	chr12	132062545	.	A	AG	2751.46	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.31;DP=1686;ExcessHet=0;FS=3.706;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=23.72;ReadPosRankSum=3.78;SOR=1.03	GT:AD:DP:GQ:PL	0/1:84,32:120:99:2763,0,3280	13	0	1	5
chr12	132144900	132144900	G	A	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon2:c.G164A:p.R55H	.	421	1084	17	0	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	0.0017	0.00279553	0.0036	0	0.0046	0	0.0005	0.0028	0.0049	0.0102	0.0021669	335	154602	rs142163454	0.0024	0.0024	0.0022	0.0026	0.0091	0.0024	0.0023	0.0086	0.0084	0.0003	0.0019	0	0	0.0004	0.0030	0.0023	0.0020	0.0091	0.0013	0.0013	0.0013	0.0013	0.0060	0.0012	0.0011	0.0043	0.0037	0.0001	0	0.0016	0	0	0.0002	0.0102	0.0020	0.0009	0.0060	0.01	0.56456	D	0.066	0.44501	T	0.999	0.77913	D	0.813	0.58748	P	0.089079	0.20447	N	0.446692	0.934122	0.37077	D	2.505	0.72935	M	-0.2	0.66113	T	-3.13	0.63901	D	0.31	0.34981	-0.2720	0.75758	T	0.357	0.71928	T	10	0.010774463	0.00238	T	.	.	.	0.264	0.57741	.	.	0.62963637804	0.62661	0.22021426462689736	0.21937	.	.	0.499059617519	0.38697	T	0.317207	0.68868	T	-0.36615	0.03794	T	-0.292611	0.45501	T	0.0370812116761807	0.03170	T	0.847215	0.52823	T	0.18378723	0.39662	0.108575374	0.26155	0.18378723	0.39662	0.108575374	0.26155	-8.616	0.65195	D	.	.	0.107	0.19998	B	.	.	4.278281	0.65153	24.8	0.99927545545986973	0.99163	0.63553	0.32125	D	AEFDGBHCI	0.178121	0.30538	N	0.247503049426115	0.53515	3.520055	0.144606866598965	0.46857	2.924916	0.999999595727615	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	4.31	4.31	0.50718	1.389000	0.34060	8.226000	0.76832	0.526000	0.24426	0.920000	0.31959	1.000000	0.68203	0.873000	0.41610	0.0:0.0:1.0:0.0	16.401	0.83480	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002541	0.000000	0.001362	0.005882	0.000000	0.000000	0.006135	0.007634	0.02632	606.33	37	chr12	132144900	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.295;SOR=0.596	GT:AD:DP:GQ:PL	0/1:39,26:65:99:620,0,821	18	0	1	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.003788	0.02632	1315.33	33	chr13	21155744	.	C	A	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=899;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.49;SOR=0.732	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1329,0,1203	18	0	1	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,65:287:99:0|1:25097005_A_G:2061,0,9126:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,65:287:99:0|1:25097005_A_G:2061,0,9126:25097005	7	0	12	0
chr13	32338610	32338610	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A4255G:p.K1419E	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.172484599793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.25	0.23707	T	.	.	.	.	.	.	0.014313	0.28571	N	0.340982	1	0.08975	N	.	.	.	5.69	0.00751	T	-2.79	0.59059	D	0.373	0.42443	-0.8668	0.50768	T	0.004	0.01365	T	10	0.38951686	0.54788	T	0.172485	0.84945	D	0.165	0.42395	0.179	0.08626	0.867765765986	0.86648	0.1534376509391446	0.15265	0.052375716267	0.05764	0.342312037945	0.16784	T	.	.	.	0.00752453	0.52687	T	-0.226968	0.52065	T	0.880416810512543	0.53043	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15698	B	.;.	.;.	2.675227	0.34885	19.75	0.99507031884728203	0.68381	0.81513	0.40901	D	AEFDBI	0.192395	0.31955	N	0.173428535240871	0.49927	3.187762	0.13341157582614	0.46268	2.875626	0.999983938169715	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	4.78	0.60666	3.714000	0.54618	3.855000	0.40108	0.733000	0.85838	0.884000	0.31069	0.995000	0.32472	0.430000	0.27449	0.7385:0.1857:0.0758:0.0	7.508	0.26727	748	0.52143	.;.	.	.	.	.	.	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	860.33	80	chr13	32338610	.	A	G	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.904;DP=1871;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.53;SOR=0.565	GT:AD:DP:GQ:PL	0/1:61,32:93:99:874,0,1674	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	0/1:91,43:141:99:183,0,1583	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	0/1:86,49:135:99:.:.:620,0,1865:.	3	0	15	1
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	1/1:0,74:74:99:2223,222,0	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	0/1:61,61:122:99:1620,0,1505	17	0	2	0
chr13	51950017	51950017	T	C	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon8:c.A2234G:p.Q745R,ATP7B:NM_001330579:exon9:c.A2468G:p.Q823R,ATP7B:NM_001330578:exon10:c.A2486G:p.Q829R,ATP7B:NM_000053:exon11:c.A2720G:p.Q907R,ATP7B:NM_001243182:exon12:c.A2387G:p.Q796R	Wilson disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1892266	Wilson_disease	MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.906	0.666232709841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	-2.76	0.90848	D	-3.68	0.70314	D	0.859	0.85554	0.950	0.96396	D	0.869	0.95640	D	10	0.9642396	0.95877	D	0.666233	0.97206	D	0.906	0.97436	0.833	0.94168	0.983135688421	0.98294	0.8721428718385182	0.87180	0.377055545769	0.39141	0.777239918709	0.78512	T	0.912285	0.98358	D	0.438938	0.91970	D	0.392727	0.91871	D	0.992934226989746	0.83554	D	0.968203	0.92669	D	0.9533338	0.96605	0.9170375	0.96189	0.9533338	0.96605	0.9170375	0.96189	-13.021	0.89451	D	0.7551953780005498	0.83719	0.867	0.85936	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.417177	0.68379	25.2	0.99537424974376809	0.70274	0.97978	0.78588	D	AEFDBI	0.937174	0.93456	D	0.724379479852808	0.81230	7.473862	0.731495061575251	0.84771	8.385505	0.999999999999996	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.73	5.73	0.89730	7.930000	0.87066	7.805000	0.69260	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.013	0.80214	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	.	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	1458.33	35	chr13	51950017	.	T	C	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=763;ExcessHet=0;FS=4.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.765;SOR=1.185	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1472,0,1032	18	0	1	0
chr13	52152637	52152637	C	T	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.G365A:p.R122H,NEK3:NM_002498:exon5:c.G365A:p.R122H,NEK3:NM_152720:exon5:c.G365A:p.R122H	.	440	1068	14	0	0	14	0.00651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0049	0.00319489	0.0058	0.0007	0.0028	0	0.0138	0.0072	0.0123	0.0047	0.0057244	885	154602	rs56190615	0.0071	0.0071	0.0071	0.0070	0.0077	0.0069	0.0069	0.0076	0.0075	0.0011	0.0025	0.0067	0	0.0121	0.0054	0.0077	0.0056	0.0043	0.0053	0.0054	0.0051	0.0056	0.0079	0.0050	0.0049	0.0073	0.0071	0.0011	0.0077	0.0017	0.0049	0	0.0138	0	0.0079	0.0052	0.0056	.	.	.	0.083	0.41573	T	0.174	0.28827	B	0.12	0.32230	B	0.000020	0.62929	N	0.106321	0.986903	0.40504	D	0.99	0.25021	L	.	.	.	.	.	.	0.31	0.34981	-1.1054	0.03497	T	0.066	0.27364	T	9	0.0071119964	0.00162	T	.	.	.	.	.	.	.	0.301122078929	0.29733	0.6005547578607336	0.59986	.	.	0.352899193764	0.18348	T	0.028139	0.20449	T	-0.483117	0.00710	T	-0.458779	0.26733	T	0.00982522262738981	0.00129	T	0.90091	0.65583	D	0.15741523	0.35472	0.16099524	0.37470	0.15741523	0.35471	0.16099524	0.37469	-6.703	0.52103	T	.	.	0.106	0.19760	B	.;.;.;.	.;.;.;.	2.956093	0.39350	20.9	0.99469964767437413	0.66259	0.92328	0.55458	D	AEFBI	0.238146	0.36032	N	-0.1827731929665	0.33853	1.925322	-0.0964778788700825	0.35534	2.057041	0.426534050801065	0.20335	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	4.1	0.47196	1.435000	0.34578	0.507000	0.19047	0.580000	0.29708	0.491000	0.26886	0.991000	0.31484	0.892000	0.42986	0.0:0.849:0.0:0.151	11.732	0.51009	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	SUGT1	Esophagus_Mucosa	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.017241	0.009146	0.007576	0.02632	1122.33	36	chr13	52152637	.	C	T	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.772;DP=770;ExcessHet=0;FS=2.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.928;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1136,0,1001	18	0	1	0
chr13	75821206	75821206	C	T	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon11:c.C1256T:p.P419L,LMO7:NM_001366636:exon11:c.C1256T:p.P419L,LMO7:NM_015842:exon11:c.C1538T:p.P513L,LMO7:NM_001330583:exon12:c.C1538T:p.P513L,LMO7:NM_001366632:exon12:c.C1538T:p.P513L,LMO7:NM_001366633:exon12:c.C2111T:p.P704L,LMO7:NM_005358:exon13:c.C1391T:p.P464L,LMO7:NM_001306080:exon14:c.C2237T:p.P746L	.	429	1051	35	7	0	49	0.0227801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0030	0.033746	0.0177	0.0056	0.0128	0.0972	0.0170	0.0028	0.0158	0.0498	0.0157501	2435	154602	rs76082815	0.0077	0.0078	0.0065	0.0090	0.0997	0.0076	0.0076	0.0971	0.0961	0.0050	0.0099	0.0032	0.0997	0.0142	0.0070	0.0010	0.0114	0.0473	0.0089	0.0090	0.0071	0.0108	0.0938	0.0085	0.0084	0.0869	0.0842	0.0054	0	0.0081	0.0026	0.0938	0.0142	0	0.0016	0.0095	0.0485	0.275	0.15984	T	0.309	0.24621	T	0.09	0.25173	B	0.006	0.12133	B	0.215918	0.03420	N	1.447430	1	0.08975	N	.	.	.	1.55	0.44065	T	-1.13	0.31170	N	0.029	0.25989	-1.0874	0.05978	T	0.003	0.01092	T	10	0.0019238591	0.00026	T	.	.	.	0.077	0.22490	.	.	.	.	0.06451919686335496	0.06390	0.0586957381805	0.06515	0.265521615744	0.05566	T	0.035418	0.25566	T	-0.627545	0.00099	T	-0.587349	0.13895	T	0.0131551565418412	0.00232	T	0.722228	0.37500	T	.	.	.	.	.	.	.	.	-5.571	0.42526	T	.	.	0.078	0.09530	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.254204	0.16513	12.59	0.51833244581012305	0.04635	0.16757	0.19535	N	AEFBI	0.070274	0.13944	N	-0.732483194023068	0.15114	0.7588375	-0.719587167921893	0.16473	0.8716077	0.998523831812547	0.37129	0.706298	0.61202	0	0.709663	0.81188	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	3.5	0.39181	0.943000	0.28628	0.005000	0.13351	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.8408:0.0:0.1592	12.465	0.55092	915	0.20917	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.002717	0.008772	0.000000	0.000000	0.018293	0.034091	0.05263	1821.83	38	chr13	75821206	.	C	T	1821.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.11;DP=723;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.67;SOR=0.939	GT:AD:DP:GQ:PL	0/1:31,33:64:99:1027,0,778	17	0	2	0
chr13	101827924	101827924	-	A	splicing	FGF14	NM_001321937:exon4:c.424-2->T	.	.	Spinocerebellar ataxia 27, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011142	29	26028	rs1183256611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0036	0.0031	0.0028	0.0041	0.0027	0.0026	0.0035	0.0033	0.0041	0	0.0034	0.0034	0.0016	0.0049	0	0.0021	0.0039	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1687.09	20	chr13	101827924	.	T	TA	1687.09	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=1172;ExcessHet=25.4433;FS=5.218;InbreedingCoeff=-0.6955;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=0.36;SOR=1.169	GT:AD:DP:GQ:PL	0/1:46,11:59:82:82,0,1556	18	0	1	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	0/1:141,56:208:99:247,0,3429	5	0	11	3
chr13	102748182	102748182	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2515C:p.D839H	.	422	1075	23	2	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0063	0	0	0	0	0.0009	0	0.0147	0.0009573	148	154602	rs201385481	0.0012	0.0011	0.0008	0.0016	0.0130	0.0011	0.0011	0.0123	0.0120	0.0003	0.0005	0.0023	0	2.033e-05	0.0079	0.0004	0.0012	0.0130	0.0009	0.0009	0.0007	0.0010	0.0131	0.0007	0.0007	0.0105	0.0095	9.626e-05	0	0.0007	0.0026	0	0	0.0102	0.0006	0.0005	0.0131	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.16725	.	.	.	.	.	.	.	0.0035596192	0.00064	T	.	.	.	.	.	.	.	0.101711395817	0.09552	0.11866852935514956	0.11793	.	.	0.297845751047	0.10081	T	.	.	.	-0.3931	0.02568	T	-0.325761	0.41940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.42906	B	.	.	1.842564	0.23410	16.01	0.60445217256569217	0.06465	0.08250	0.14203	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.997443085642571	0.35625	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.124674	0.25123	4.75	3.9	0.44240	0.430000	0.21147	0.122000	0.14930	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.449000	0.27873	0.0:0.9005:0.0:0.0995	9.124	0.35966	938	0.14419	.	.	.	.	.	.	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	0.001445	0.000000	0.000000	0.004717	0.200000	0.000000	0.000000	0.000000	0.02632	3142.33	119	chr13	102748182	.	C	G	3142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.636;DP=2829;ExcessHet=0;FS=7.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.426;SOR=0.353	GT:AD:DP:GQ:PL	0/1:69,114:183:99:3156,0,1979	18	0	1	0
chr13	112067734	112067742	GCCGGGGCG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.76_84del:p.A26_A28del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2551.29	33	chr13	112067733	.	CGCCGGGGCG	C	2551.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=774;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=31.89;ReadPosRankSum=1.32;SOR=0.419	GT:AD:DP:GQ:PL	0/1:15,65:80:99:2565,0,433	18	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del	.	440	1071	10	1	0	12	0.00557103	.	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4622.29	247	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	4622.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.664;DP=1887;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=0.303;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	18	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	19298.6	264	chr13	112547532	.	ACGTGCATGGGAAAGT	*	19298.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1944;ExcessHet=0.0506;FS=1.778;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=1.14;QD=19.57;ReadPosRankSum=0.285;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	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|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	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	0|1:0,131:214:99:1|0:112547505_C_T:8473,3381,4811:112547505	15	1	3	0
chr13	113405813	113405813	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G2377A:p.E793K,LOC101928841:NM_001375393:exon2:c.G2377A:p.E793K	.	937	584	1	0	0	1	0.000855432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs548005692	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	4.354e-05	0.0002	0	0	4.733e-05	0.0003	0.0002	9.161e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	6.533e-05	0	0.0002	9.409e-05	0	0.0003	0	0.0004	.	.	.	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.03110236	0.01242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017455	0.14237	T	.	.	.	.	.	.	.	.	.	0.474753	0.14169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	-0.698311	0.01325	0.073	0.78896266569985529	0.12500	0.02238	0.06495	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999936675	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.044551	0.00207	1	0.079188	0.02158	0	0.0525523	0.11250	4.16	-8.32	0.00873	-2.220000	0.01300	0.081000	0.14390	-0.360000	0.05510	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4186:0.3455:0.2359	9.45	0.37885	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	69	chr13	113405813	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=1087;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=1.33;SOR=0.915	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1242,0,874	18	0	1	0
chr14	18601706	18601706	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G590A:p.G197E	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00462199078438	.	.	0.0007	0.0010	0.0095	0	0	0.0002	0	0	3.84e-05	1	26028	rs748013299	1.098e-05	0.0003	1.092e-05	1.103e-05	0.0002	6.5e-06	5.26e-06	0.0001	7.382e-05	0	0.0001	0	0.0002	0	0	9.001e-07	0	1.162e-05	0.0004	0.0020	0.0003	0.0005	0.0032	0.0003	0.0003	0.0025	0.0022	4.961e-05	0	0.0032	0	0.0010	0	0	7.505e-05	0.0005	0.0009	0.069	0.35537	T	0.399	0.15059	T	0.781	0.44300	P	0.43	0.45392	B	0.000707	0.42254	D	0.000000	.	.	.	1.675	0.43121	L	8.8	0.00050	T	-4.77	0.80425	D	0.122	0.11340	-1.0080	0.27541	T	0.000	0.00114	T	9	0.011298597	0.00248	T	0.004622	0.11440	T	0.065	0.18881	.	.	0.404793603054	0.40094	0.06917515607333054	0.06855	3.52078213034	0.99770	0.306855976582	0.11431	T	0.014086	0.12058	T	-0.250975	0.13978	T	-0.598285	0.12955	T	0.146298558948791	0.16805	T	0.518348	0.16810	T	0.35167694	0.57197	0.23873909	0.49204	0.35167694	0.57197	0.23873909	0.49203	-7.202	0.55496	T	.	.	0.128	0.27283	B	.	.	2.292536	0.29327	18.09	0.86779382392739934	0.16767	0.00328	0.01715	N	AEFI	0.026172	0.01919	N	-0.831145875182917	0.12519	0.6107228	-1.03730447137808	0.08973	0.4439269	1.23754932233703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.252000	0.02990	.	.	0.221000	0.18078	0.000000	0.06391	0.978000	0.30204	0.210000	0.22183	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	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	.	.	.	.	.	.	.	.	0.05263	142.83	252	chr14	18601706	.	G	A	142.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.53;DP=5179;ExcessHet=0.119;FS=14.272;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.7;MQRankSum=-2.711;QD=0.27;ReadPosRankSum=1.45;SOR=2.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,34:301:88:0|1:18601706_G_A:88,0,9531:18601706	17	0	2	0
chr14	19413371	19413371	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.G1392T:p.E464D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0012850884948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455494252	0.0007	0.0012	0.0005	0.0010	0.0077	0.0007	0.0007	0.0072	0.0069	9.939e-05	0.0002	0	0.0001	0.0001	0.0025	0.0003	0.0008	0.0077	0.0001	0.0005	0.0001	0.0001	0.0021	6.691e-05	5.081e-05	0.0007	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	0.475	0.12072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.66	0.19085	N	0.089	0.06720	-1.0548	0.13093	T	0.050	0.21378	T	8	0.0747537	0.11466	T	0.001285	0.01759	T	.	.	0.261	0.20473	0.0934897674506	0.08844	0.011699981048302372	0.01129	.	.	0.731519818306	0.71728	T	0.003934	0.03343	T	-0.198075	0.21082	T	-0.522298	0.20062	T	0.156079471010915	0.17578	T	0.686031	0.29438	T	0.047692206	0.08195	0.07661035	0.16986	0.047692206	0.08194	0.07661035	0.16985	-4.393	0.29462	T	.	.	0.134	0.29060	B	.	.	0.704465	0.10733	7.423	0.98525236240178171	0.42520	0.00743	0.03099	N	AEFI	0.031355	0.03337	N	-1.07052320312634	0.07191	0.3333102	-1.28723328962108	0.04602	0.2174681	1.18907660551628E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-0.621	0.10984	-0.917000	0.04134	-1.365000	0.05612	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5474:0.0:0.4526	4.013	0.09117	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	.	.	.	.	.	.	.	.	0.07895	74.69	16	chr14	19413371	.	C	A	74.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.963;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=0.511;MLEAC=2;MLEAF=0.053;MQ=25.46;MQRankSum=-0.985;QD=4.15;ReadPosRankSum=1.41;SOR=0.169	GT:AD:DP:GQ:PL	0/1:13,3:16:41:41,0,347	17	1	1	0
chr14	19434034	19434034	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C256G:p.H86D	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00156188237123	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146829084	0.0014	0.0017	0.0010	0.0018	0.0146	0.0014	0.0013	0.0139	0.0136	0.0003	0.0004	0.0005	3.132e-05	0.0002	0.0093	0.0007	0.0017	0.0146	0.0009	0.0012	0.0007	0.0012	0.0128	0.0008	0.0008	0.0101	0.0091	0.0001	0	0.0009	0.0009	0	0.0005	0.0043	0.0007	0.0025	0.0128	0.025	0.47320	D	0.263	0.22828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.264	0.29889	-1.0316	0.19937	T	0.050	0.21339	T	6	0.008307308	0.00188	T	0.001562	0.02471	T	.	.	0.322	0.30226	0.200294437569	0.19612	0.016831770812088642	0.01638	.	.	0.592665612698	0.51870	T	0.006287	0.05726	T	-0.246989	0.14471	T	-0.592559	0.13445	T	0.0595772515591679	0.07101	T	0.623938	0.24053	T	0.052697938	0.09867	0.12936428	0.31105	0.052697938	0.09866	0.12936428	0.31105	-7.677	0.58848	D	.	.	0.089	0.12132	B	.	.	0.887264	0.12606	9.133	0.71549487364888009	0.09667	0.00673	0.02898	N	AEFI	0.031461	0.03370	N	-1.08682113796644	0.06885	0.3182525	-1.24599346805238	0.05190	0.2467232	1.24656028350294E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.835000	0.04494	-1.086000	0.06374	0.202000	0.17929	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	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	.	.	.	.	.	.	.	.	0.04545	8525.36	1119	chr14	19434034	.	G	C	8525.36	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-4.725;DP=13286;ExcessHet=0;FS=2.577;InbreedingCoeff=0.1648;MLEAC=2;MLEAF=0.091;MQ=44.62;MQRankSum=8.59;QD=7.35;ReadPosRankSum=4.81;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:742,418:1160:99:0|1:19434034_G_C:8535,0,20794:19434034	10	0	1	8
chr14	20435255	20435255	T	A	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.A557T:p.E186V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92063	0.27301	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15361413	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020204	0.15948	T	.	.	.	.	.	.	.	.	.	0.658334	0.26756	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.39220	B	.;.	.;.	2.427280	0.31222	18.68	0.75537469152107783	0.11113	0.19559	0.20708	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999985710056426	0.51787	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.64126	0.41592	4.64	4.64	0.57399	1.393000	0.34106	7.603000	0.61629	0.609000	0.47794	0.004000	0.16614	1.000000	0.68203	0.108000	0.18652	0.0:0.0:0.0:1.0	11.934	0.52148	946	0.12043	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	30.12	.	chr14	20435255	.	T	A	30.12	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=39;ExcessHet=0;FS=0;InbreedingCoeff=-0.1323;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	14	0	1	4
chr14	23055229	23055229	C	T	exonic	CDH24	.	nonsynonymous SNV	CDH24:NM_022478:exon3:c.G326A:p.R109Q,CDH24:NM_144985:exon3:c.G326A:p.R109Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.129252120227	.	.	4.121e-05	0	0	0	0	5.997e-05	0	6.056e-05	3.23e-05	5	154602	rs768201023	1.3e-05	1.3e-05	1.225e-05	1.375e-05	4.637e-05	8.31e-06	6.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	4.89	0.99766	H	0.27	0.59176	T	-3.73	0.71157	D	0.903	0.90363	0.623	0.92199	D	0.602	0.85825	D	10	0.94541526	0.93867	D	0.129252	0.81128	D	0.566	0.82289	0.866	0.96104	0.864803184734	0.86348	0.8891321970559015	0.88882	1.23802410932	0.81522	0.616815149784	0.55279	T	0.36103	0.72718	T	0.0898015	0.63167	D	0.0216682	0.71738	D	0.998621463775635	0.94678	D	0.999654	0.99877	D	0.7965305	0.83685	0.73468035	0.84319	0.7965305	0.83687	0.73468035	0.84320	-12.882	0.88871	D	.	.	0.989	0.93209	P	.;.;.;.;.	.;.;.;.;.	5.732741	0.93289	33	0.99950776610985226	0.99944	0.98884	0.88144	D	AEFBI	0.914749	0.87856	D	0.945956456199907	0.93822	12.30159	0.756032282777495	0.86608	8.943806	0.999999999968406	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.72	3.72	0.41857	7.568000	0.81546	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	14.769	0.69287	810	0.42761	.;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1286.33	38	chr14	23055229	.	C	T	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=772;ExcessHet=0;FS=2.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.15;SOR=0.455	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1300,0,1373	18	0	1	0
chr14	23523385	23523385	C	G	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon9:c.G6557C:p.S2186T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.120198719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.52727	D	0.993	0.65571	D	0.823	0.59197	P	0.000058	0.53742	D	0.000000	1	0.81001	D	2.3	0.65703	M	-1.23	0.78860	T	-1.12	0.28906	N	0.227	0.25499	-0.0018	0.82219	T	0.484	0.80306	T	10	0.2767756	0.45241	T	0.120199	0.80068	D	0.371	0.69016	0.241	0.17371	0.45553875121	0.45177	0.30552572672985057	0.30465	.	.	0.7548609972	0.75165	T	0.003178	0.02586	T	0.0306367	0.55808	T	-0.193769	0.55237	T	0.939332485198975	0.61071	D	0.618038	0.23687	T	0.18260776	0.39487	0.20068252	0.44011	0.18260776	0.39487	0.20068252	0.44010	-3.904	0.22362	T	.	.	0.148	0.32661	B	.	.	3.650323	0.51800	23.1	0.99640218188506025	0.76633	0.92330	0.55463	D	AEFDBI	0.529357	0.55050	D	0.407363383009425	0.61827	4.389128	0.393014286699129	0.61134	4.30935	0.999993691649457	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	4.42	4.42	0.52775	1.283000	0.32843	2.270000	0.31824	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	15.963	0.79738	564	0.70960	.	.	.	.	.	.	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	712.33	52	chr14	23523385	.	C	G	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=803;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.06;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,26:65:99:726,0,1056	18	0	1	0
chr14	23523921	23523921	T	G	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon9:c.A6021C:p.E2007D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00740778393947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	0.02176	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.964332	0.08202	N	0.979946	0.730329	0.33712	D	-1.155	0.00891	N	-1.22	0.78752	T	1.49	0.00747	N	0.088	0.06587	-0.9668	0.37854	T	0.139	0.45678	T	10	0.015668929	0.00329	T	0.007408	0.19657	T	0.173	0.43840	0.335	0.32329	0.124217242631	0.12060	0.2105396033881482	0.20969	.	.	0.4465893507	0.31478	T	5.42E-4	0.00213	T	-0.250569	0.14027	T	-0.597702	0.13004	T	0.0391350611686787	0.03534	T	0.526147	0.17328	T	0.044145893	0.07007	0.032478202	0.01991	0.044145893	0.07007	0.032478202	0.01990	-4.987	0.36698	T	.	.	0.059	0.00847	B	.	.	-1.330310	0.00413	0.008	0.58683780668610763	0.06049	0.01609	0.05211	N	AEFDBI	0.033012	0.03838	N	-1.73155604668946	0.00736	0.03176659	-1.74946313231088	0.00935	0.04185724	0.999999878545077	0.74766	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.67	-9.34	0.00539	-2.487000	0.01054	-6.111000	0.01493	-0.736000	0.03693	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.1732:0.0:0.3085:0.5183	7.607	0.27275	564	0.70960	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1140.33	71	chr14	23523921	.	T	G	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.009;DP=1057;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.549;SOR=0.738	GT:AD:DP:GQ:PL	0/1:61,52:115:99:1154,0,1588	18	0	1	0
chr14	24505547	24505547	G	T	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001308083:exon4:c.C380A:p.P127H,CMA1:NM_001836:exon5:c.C713A:p.P238H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0332792020968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.04	0.50809	D	1.0	0.90584	D	0.958	0.70027	D	0.047912	0.23300	N	0.373259	0.996424	0.23019	N	2.36	0.67893	M	0.2	0.60111	T	-6.82	0.92980	D	0.236	0.44761	-0.8247	0.53638	T	0.287	0.65851	T	10	0.53136736	0.63202	D	0.033279	0.54868	D	0.208	0.49714	0.557	0.67547	0.801786107145	0.79993	0.6498083361194431	0.64916	0.00857817795208	0.00777	0.335130661726	0.15707	T	0.565832	0.85543	D	-0.0438932	0.45369	T	-0.300826	0.44637	T	0.974939405918121	0.70717	D	0.413359	0.21771	T	0.54944307	0.69924	0.45188504	0.68112	0.54944307	0.69925	0.45188504	0.68112	-6.203	0.49369	T	.	.	0.195	0.41678	B	.;.	.;.	3.560401	0.50099	22.9	0.97843157630328004	0.36345	0.42163	0.26817	N	AEFBI	0.070419	0.13979	N	0.155691270785604	0.49082	3.112592	0.0152415696650243	0.40422	2.412073	2.27432592707631E-4	0.06048	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	2.53	0.29594	1.036000	0.29837	2.138000	0.30825	0.676000	0.76740	0.904000	0.31524	0.989000	0.31174	0.170000	0.20979	0.0854:0.0:0.5907:0.3239	6.327	0.20457	759	0.50631	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	763.33	36	chr14	24505547	.	G	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=716;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.23;SOR=0.538	GT:AD:DP:GQ:PL	0/1:52,35:87:99:777,0,1304	18	0	1	0
chr14	32094181	32094181	C	T	exonic	ARHGAP5	.	nonsynonymous SNV	ARHGAP5:NM_001030055:exon2:c.C3512T:p.T1171I,ARHGAP5:NM_001173:exon2:c.C3512T:p.T1171I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00364054238708	.	.	8.278e-06	0	0	0	0	0	0	6.065e-05	6.5e-06	1	154602	rs773927154	7.532e-06	7.524e-06	9.538e-06	5.506e-06	0.0002	4.04e-06	2.95e-06	3.86e-06	1.68e-06	0	0	0	0	0	0.0002	6.297e-06	1.658e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.093	0.42261	T	0.0	0.02946	B	0.001	0.04355	B	0.117238	0.19161	N	0.600559	0.948318	0.81001	D	1.7	0.43825	L	3.09	0.08460	T	-1.13	0.31170	N	0.301	0.37717	-0.9120	0.46607	T	0.016	0.06425	T	10	0.17265579	0.32050	T	0.003641	0.08371	T	0.065	0.18881	0.274	0.22528	0.158540857583	0.15491	0.19502438478385523	0.19420	0.279066347748	0.30389	0.827787995338	0.86224	D	0.147639	0.48582	T	0.0120072	0.53300	T	-0.220529	0.52687	T	0.519798696041107	0.33358	D	0.878412	0.59357	D	0.09228322	0.21646	0.09717512	0.23119	0.09228322	0.21645	0.09717512	0.23118	-4.582	0.32879	T	.	.	0.226	0.45738	B	.;.;.	.;.;.	3.501291	0.48989	22.7	0.98430504263827523	0.41386	0.93397	0.58108	D	AEFGBI	0.569039	0.57398	D	-0.121486709344061	0.36458	2.107613	0.126739632428173	0.45920	2.846858	0.999999999817296	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	5.793000	0.68709	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.519	0.95170	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	706.33	47	chr14	32094181	.	C	T	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=718;ExcessHet=0;FS=9.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0.919;QD=12.39;ReadPosRankSum=0.611;SOR=1.218	GT:AD:DP:GQ:PL	0/1:32,25:57:99:720,0,831	18	0	1	0
chr14	35677991	35677991	T	C	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001330075:exon21:c.A4442G:p.E1481G,RALGAPA1:NM_001346243:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001346246:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001346248:exon21:c.A4442G:p.E1481G,RALGAPA1:NM_014990:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_194301:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001283043:exon22:c.A3104G:p.E1035G,RALGAPA1:NM_001283044:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346245:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346247:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346249:exon22:c.A4583G:p.E1528G	.	430	1091	1	0	0	1	0.000458085	.	.	.	702864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0009	0.00319489	0.0049	0.0019	0.0475	0.0008	0	0.0002	0.0033	0.0001	0.0046054	712	154602	rs148266372	0.0015	0.0015	0.0017	0.0013	0.0438	0.0014	0.0014	0.0422	0.0415	0.0010	0.0438	0	0.0008	0	0	7.645e-05	0.0012	6.965e-05	0.0037	0.0038	0.0030	0.0046	0.0315	0.0035	0.0034	0.0291	0.0282	0.0014	0	0.0315	0	0.0019	0	0	0.0002	0.0019	0.0004	0.023	0.48186	D	0.261	0.23298	T	0.062	0.31978	B	0.03	0.34536	B	0.000015	0.62929	D	0.116848	0.999774	0.48980	D	0.55	0.14455	N	-0.47	0.70133	T	-1.85	0.44094	N	0.294	0.41261	-0.8640	0.50973	T	0.117	0.41231	T	10	0.003970742	0.00077	T	.	.	.	0.124	0.34239	.	.	0.168254554758	0.16434	0.2718298507167534	0.27095	1.32223500528	0.83470	0.586012840271	0.50932	T	0.023934	0.21334	T	-0.338542	0.05490	T	-0.224031	0.52348	T	0.0152032870638134	0.00333	T	0.953705	0.82322	D	0.18409967	0.39709	0.19058302	0.42469	0.18409967	0.39709	0.19058302	0.42468	-8.188	0.64634	D	0.5160537097627915	0.58905	0.136	0.46949	B	.;.;.;.;.	.;.;.;.;.	4.176118	0.62829	24.5	0.99786777242371549	0.87308	0.98087	0.79488	D	AEFGBI	0.886102	0.81719	D	0.0535426480001212	0.44307	2.707042	0.235209863220506	0.51811	3.360591	0.999999999843554	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	5.38	5.38	0.77279	7.628000	0.82379	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.373	0.74294	571	0.70397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	802.33	33	chr14	35677991	.	T	C	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.032;DP=709;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1;SOR=0.837	GT:AD:DP:GQ:PL	0/1:47,37:84:99:816,0,1174	18	0	1	0
chr14	54531033	54531033	C	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon4:c.C553T:p.R185W	.	432	1077	13	0	0	13	0.00599908	.	.	.	725692	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0075	0.00339457	0.0074	0.0019	0.0079	0	0.0033	0.0105	0.0070	0.0040	0.0071927	1112	154602	rs34839928	0.0089	0.0090	0.0090	0.0089	0.0125	0.0088	0.0087	0.0102	0.0099	0.0026	0.0102	0.0010	0.0001	0.0044	0.0125	0.0101	0.0103	0.0030	0.0075	0.0075	0.0075	0.0074	0.0189	0.0071	0.0070	0.0171	0.0164	0.0021	0	0.0189	0.0006	0	0.0028	0.0102	0.0100	0.0156	0.0027	0.014	0.53172	D	0.019	0.59159	D	0.999	0.77913	D	0.828	0.59497	P	0.000525	0.43581	D	0.252112	0.994756	0.42403	D	1.845	0.48678	L	1.62	0.28189	T	-2.27	0.50666	N	0.656	0.66615	-1.0566	0.12621	T	0.067	0.27502	T	10	0.006599784	0.00149	T	.	.	.	0.101	0.28911	.	.	0.415313616471	0.41148	0.6283870788807333	0.62771	0.451217625391	0.44872	0.34764662385	0.17576	T	0.075838	0.35275	T	-0.449287	0.01140	T	-0.40647	0.32632	T	0.0550796537655671	0.06371	T	0.868613	0.57103	D	0.106639296	0.25216	0.10118104	0.24215	0.106639296	0.25216	0.10118104	0.24215	-7.207	0.55532	T	.	.	0.152	0.33619	B	.	.	4.825046	0.78622	26.9	0.99915803401393699	0.98379	0.85415	0.44545	D	AEFBI	0.534647	0.55360	D	0.430531300260457	0.63109	4.538369	0.438042491003234	0.63954	4.639709	0.716162251239113	0.22876	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	4.59	0.56297	2.768000	0.47329	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4859:0.5141:0.0:0.0	12.301	0.54197	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	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	0.013118	0.015152	0.014986	0.011765	0.000000	0.017241	0.012195	0.003788	0.07895	489.79	33	chr14	54531033	.	C	T	489.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.717;DP=716;ExcessHet=0.3672;FS=16.915;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=-0.093;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:99:.:.:161,0,784:.	16	0	3	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	0/1:45,17:62:95:95,0,771	3	0	16	0
chr14	62981022	62981022	T	G	exonic	KCNH5	.	nonsynonymous SNV	KCNH5:NM_139318:exon6:c.A792C:p.L264F,KCNH5:NM_172375:exon6:c.A792C:p.L264F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.230616686548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-3.83	0.95794	D	-3.76	0.71762	D	0.909	0.91162	0.936	0.96191	D	0.892	0.96405	D	10	0.85035807	0.84211	D	0.230617	0.88238	D	0.826	0.94466	0.53	0.63707	0.962012708856	0.96160	0.8899204648396157	0.88962	1.81287146463	0.91823	0.904261469841	0.96898	D	0.836588	0.96150	D	0.458045	0.92840	D	0.420173	0.92751	D	0.981292545795441	0.73830	D	0.956904	0.83579	D	0.5643139	0.70748	0.5506631	0.74019	0.5643139	0.70749	0.5506631	0.74019	-10.022	0.74734	D	0.20130546165976693	0.26741	0.963	0.88375	P	.;.;.	.;.;.	4.301538	0.65684	24.9	0.99892480874335121	0.96589	0.56902	0.30237	D	AEGHCI	0.286282	0.39870	N	0.550785993193486	0.70131	5.456528	0.530919323393235	0.70082	5.453042	0.99566326459136	0.34254	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	0.891000	0.27944	2.915000	0.35530	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1174:0.0:0.8826	8.341	0.31403	895	0.25842	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	.	.	.	.	.	.	.	.	0.02632	33.33	87	chr14	62981022	.	T	G	33.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.77;DP=1067;ExcessHet=0;FS=429.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.469;SOR=8.525	GT:AD:DP:GQ:PL	0/1:109,36:145:47:47,0,2655	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	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|1:74,22:96:99:0|1:64158707_T_C:177,0,2293:64158707	2	0	15	2
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	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	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	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	.	.	.	.	.	.	.	.	0.1111	1526.87	42	chr14	64158708	.	G	C	1526.87	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,22:96:99:0|1:64158707_T_C:177,0,2293:64158707	14	0	4	1
chr14	69572725	69572725	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G898A:p.G300S	.	489	1019	14	0	0	14	0.00682261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.1667	0.25	.	.	.	0	.	.	0.0009444	146	154602	rs112597196	0.0057	0.0044	0.0057	0.0058	0.0191	0.0056	0.0056	0.0176	0.0170	0.0191	0.0057	0.0038	3.772e-05	0.0128	0.0165	0.0054	0.0066	0.0031	0.0098	0.0099	0.0099	0.0097	0.0175	0.0094	0.0092	0.0165	0.0160	0.0175	0.0011	0.0082	0.0055	0	0.0127	0.0170	0.0066	0.0104	0.0025	.	.	.	0.379	0.16037	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095	0.27400	L	1.85	0.24472	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.0028022528	0.00044	T	.	.	.	.	.	.	.	.	.	0.08548746969442873	0.08482	.	.	0.782288968563	0.79273	T	0.015139	0.12759	T	-0.585505	0.00178	T	-0.598877	0.12906	T	.	.	.	0.582642	0.21138	T	0.090948656	0.21298	0.15418081	0.36196	0.090948656	0.21298	0.15418081	0.36196	-4.213	0.26939	T	.	.	0.219	0.44948	B	.	.	3.430428	0.47670	22.5	0.97456485833148221	0.34058	0.91475	0.53609	D	AEFDGBCI	0.349290	0.44313	N	.	.	.	.	.	.	0.999552068343067	0.40362	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	3.75	0.84	0.18047	5.149000	0.64707	2.542000	0.33220	0.515000	0.23462	1.000000	0.71638	0.990000	0.31317	0.374000	0.26200	0.0:0.7333:0.0:0.2667	8.369	0.31567	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3222.83	36	chr14	69572725	.	C	T	3222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.81;DP=877;ExcessHet=0.119;FS=3.13;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.132;SOR=0.499	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1422,0,1334	17	0	2	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E	.	419	1038	61	4	0	69	0.0321678	.	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	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	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07895	3341.79	33	chr14	74358253	.	C	A	3341.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.542;DP=830;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.716;SOR=0.716	GT:AD:DP:GQ:PL	0/1:54,36:90:99:904,0,1610	16	0	3	0
chr14	74358722	74358722	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G1939A:p.A647T	.	409	1108	4	1	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0100397103235	.	.	8.265e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs747084343	8.893e-06	9.577e-06	5.445e-06	1.238e-05	3.478e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	6.295e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.11770	T	0.087	0.40747	T	0.086	0.24919	B	0.012	0.16012	B	0.000451	0.44317	N	0.146689	0.562446	0.32224	D	0.255	0.09829	N	0.64	0.52867	T	-1.3	0.32590	N	0.093	0.07262	-1.0991	0.04202	T	0.064	0.26597	T	10	0.05412823	0.05713	T	0.01004	0.26102	T	0.047	0.12962	0.417	0.45709	0.0675242888579	0.06100	0.5511689088160042	0.55042	0.419241257786	0.42481	0.322721660137	0.13833	T	0.222349	0.58618	T	-0.307295	0.07988	T	-0.58233	0.14338	T	0.0350555183800831	0.02817	T	0.657934	0.26722	T	0.040601674	0.05827	0.059851978	0.11301	0.040601674	0.05826	0.059851978	0.11300	-3.322	0.14022	T	.	.	0.064	0.01577	B	.	.	0.063903	0.04739	1.368	0.91204952084420465	0.20461	0.27072	0.23174	N	AEFDBCI	0.116711	0.22894	N	-1.21083425740859	0.04840	0.219367	-1.26563125580028	0.04903	0.2324119	0.999970062109776	0.50053	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.28	-2.3	0.06399	1.280000	0.32807	0.160000	0.15395	-0.169000	0.11342	0.169000	0.23921	0.000000	0.08366	0.220000	0.22462	0.5469:0.0:0.4531:0.0	8.806	0.34100	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2541.33	33	chr14	74358722	.	G	A	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=853;ExcessHet=0;FS=3.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.394;SOR=0.955	GT:AD:DP:GQ:PL	0/1:116,106:222:99:2555,0,2747	18	0	1	0
chr14	74486431	74486431	C	T	exonic	NPC2	.	nonsynonymous SNV	NPC2:NM_001363688:exon2:c.G88A:p.V30M,NPC2:NM_001375440:exon2:c.G88A:p.V30M,NPC2:NM_006432:exon2:c.G88A:p.V30M	Niemann-pick disease, type C2, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	181440	Brain_atrophy|Seizure|Global_developmental_delay|Microcephaly|not_specified|Niemann-Pick_disease,_type_C2|not_provided	Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:CN169374|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.490	0.107051375347	0.0019	0.000998403	0.0031	0.0004	0.0019	0	0	0.0040	0.0078	0.0042	0.0014101	218	154602	rs151220873	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0013	0.0101	0.0092	0.0005	0.0010	0.0189	0	0	0.0124	0.0007	0.0029	0.0049	0.0013	0.0013	0.0013	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0003	0	0.0009	0.0193	0.0002	0	0.0136	0.0012	0.0014	0.0050	0.111	0.32929	T	0.112	0.37589	T	0.921	0.51088	P	0.667	0.53020	P	0.001644	0.00810	N	3.062020	1	0.08975	N	1.32	0.33002	L	-0.92	0.75108	T	-0.34	0.15178	N	0.694	0.69913	-0.5348	0.67360	T	0.323	0.69186	T	10	0.0055167973	0.00122	T	0.107051	0.78294	D	0.490	0.77720	.	.	0.419957187557	0.41612	0.4148785368595371	0.41403	1.05498303167	0.76294	0.248564392328	0.03618	T	0.164713	0.70663	T	-0.280629	0.10601	T	-0.17534	0.56954	T	0.0604724534897135	0.07243	T	0.768523	0.39806	T	0.15376896	0.34838	0.120965846	0.29188	0.15767485	0.35515	0.072921336	0.15786	-5.909	0.45512	T	0.34427084161464777	0.44184	0.123	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.142092	0.15295	11.74	0.98776408867178389	0.46049	0.02808	0.07534	N	AEFGBI	0.158835	0.28454	N	-0.980824699310848	0.09013	0.4248764	-1.20699484781859	0.05797	0.2772181	0.999999670044353	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.54	-7.82	0.01069	-1.967000	0.01598	-3.068000	0.03090	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0857:0.1184:0.3405:0.4555	4.464	0.11100	368	0.84463	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;.;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML 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	0.009635	0.005208	0.008152	0.005848	0.000000	0.017241	0.015432	0.003788	0.05263	1455.83	42	chr14	74486431	.	C	T	1455.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.048;DP=753;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.118;SOR=0.665	GT:AD:DP:GQ:PL	0/1:42,32:74:99:765,0,1138	17	0	2	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	417.72	34	chr14	87947880	.	T	G	417.72	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.843;DP=647;ExcessHet=1.3;FS=151.533;InbreedingCoeff=-0.2114;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=2.84;SOR=8.318	GT:AD:DP:GQ:PL	0/1:23,10:33:80:80,0,455	11	0	5	3
chr14	90288233	90288233	C	A	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon11:c.G3142T:p.V1048L	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.020696803634	.	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0015	0.0002329	36	154602	rs553168136	0.0001	0.0001	5.991e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0014	2.428e-05	0.0002	0.0016	9.19e-05	9.185e-05	5.139e-05	0.0001	0.0019	5.522e-05	4.36e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.348e-05	0	0.0019	0.028	0.46129	D	0.179	0.29540	T	0.163	0.28433	B	0.029	0.21540	B	0.003535	0.34820	N	0.229980	0.836591	0.35000	D	1.9	0.50570	L	0.49	0.55775	T	-0.8	0.22078	N	0.423	0.46274	-0.8975	0.48244	T	0.132	0.44307	T	10	0.027313828	0.00880	T	0.020697	0.43346	T	0.094	0.27141	0.488	0.57257	0.723900465636	0.72146	0.41711761066602976	0.41627	0.0667731386781	0.07447	0.264311432838	0.05415	T	0.005826	0.05277	T	-0.358388	0.04221	T	-0.328109	0.41679	T	0.0346935048486588	0.02755	T	0.836716	0.50835	T	0.08104992	0.18604	0.08945538	0.20920	0.08104992	0.18603	0.08945538	0.20919	-1.708	0.02250	T	.	.	0.227	0.45895	B	.	.	3.113039	0.41995	21.5	0.96662916193227277	0.30632	0.98464	0.83051	D	AEFBI	0.467570	0.51474	N	-0.296311491587375	0.29291	1.623015	-0.173840550269649	0.32501	1.849772	0.966677977027867	0.28921	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	4.77	3.89	0.44098	3.405000	0.52379	4.027000	0.41303	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.8262:0.0:0.1738	10.341	0.43059	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	40	chr14	90288233	.	C	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=750;ExcessHet=0;FS=4.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.335;SOR=0.309	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1086,0,932	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	0/1:107,102:209:99:2591,0,2532	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	0/1:0,10:19:99:.:.:2883,515,321:.	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	0/1:74,47:121:99:349,0,1393	1	0	17	1
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	0/1:55,51:106:99:1273,0,1423	17	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,38:77:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1291,0,1441:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	15	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2874.79	34	chr15	21652117	.	A	C	2874.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.46;DP=1143;ExcessHet=0.3672;FS=3.858;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=28.15;MQRankSum=-0.218;QD=5.23;ReadPosRankSum=-0.519;SOR=0.999	GT:AD:DP:GQ:PL	0/1:75,31:106:99:662,0,1886	16	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5203.79	34	chr15	21652190	.	C	T	5203.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.35;DP=1924;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=32.55;MQRankSum=-0.045;QD=5.5;ReadPosRankSum=0.943;SOR=0.725	GT:AD:DP:GQ:PL	0/1:159,64:223:99:1248,0,4012	16	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8970.79	34	chr15	21652283	.	G	C	8970.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.37;DP=1793;ExcessHet=0.3672;FS=2.68;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.05;MQRankSum=-1.145;QD=10.89;ReadPosRankSum=0.157;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,66:216:99:0|1:21652283_G_C:2293,0,5982:21652283	16	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8994.79	34	chr15	21652290	.	C	A	8994.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.745;DP=1778;ExcessHet=0.3672;FS=1.934;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.12;MQRankSum=-1.247;QD=11.08;ReadPosRankSum=0.423;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,67:218:99:0|1:21652283_G_C:2319,0,6008:21652283	16	0	3	0
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.025253	0.054348	0.067251	0.000000	0.043103	0.015244	0.007576	0.1786	1435.25	24	chr15	22080637	.	A	G	1435.25	.	AC=5;AF=0.179;AN=28;BaseQRankSum=0.507;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=0.7562;MLEAC=6;MLEAF=0.214;MQ=32.99;MQRankSum=-0.457;QD=24.75;ReadPosRankSum=0.746;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,15:15:45:540,45,0	11	2	1	5
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	1/1:1,98:99:99:3162,288,0	0	13	3	3
chr15	23136599	23136599	-	GTGGGGATGGGTAGGGAC	exonic	GOLGA6L1;LOC102723623	.	nonframeshift insertion	GOLGA6L1:NM_001001413:exon1:c.132_133insGTCCCTACCCATCCCCAC:p.L45_M657delinsVPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCHSPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELYRNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEKIQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWRQEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,LOC102723623:NM_001382446:exon2:c.60_61insGTCCCTACCCATCCCCAC:p.L21_E645delinsVPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCHSPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELYRNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEKIQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWRQEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.397e-05	8.859e-06	0	0.0001	.	0	0	.	.	0	0	0	0	0	0.0009	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	252.66	18	chr15	23136599	.	G	GGTGGGGATGGGTAGGGAC	252.66	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.318;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=0.1848;MLEAC=1;MLEAF=0.031;MQ=46.6;MQRankSum=-0.934;QD=5.05;ReadPosRankSum=-0.162;SOR=0.549	GT:AD:DP:GQ:PL	0/1:32,18:50:99:265,0,721	15	0	1	3
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13:96:99:.:.:272,0,3313:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13:96:99:.:.:272,0,3313:.	12	0	7	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	1/0:0,103:159:99:.:.:6092,1960,2231:.	0	0	19	0
chr15	23440587	23440587	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1888A:p.G630R	.	377	1139	6	0	0	6	0.00262697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00273111869499	.	0.00139776	0.0051	0.0020	0.0036	0	0	0.0009	0	0.0097	0.0006145	95	154602	rs372129004	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0006	0.0071	0.0069	0.0001	0.0014	0.0006	2.95e-05	0	0.0023	0.0002	0.0007	0.0076	0.0003	0.0004	0.0002	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0004	0.0012	0	0	0	0.0002	0	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	1.69	0.00584	N	0.131	0.12627	.	.	.	.	.	.	.	0.0051416755	0.00112	T	0.002731	0.05637	T	.	.	.	.	0.188950314367	0.18478	0.013426868770001222	0.01300	0.0140065937379	0.01334	.	.	.	.	.	.	-0.375741	0.03313	T	-0.777502	0.02529	T	.	.	.	0.568443	0.20183	T	0.0704227	0.15511	0.19674455	0.43420	0.0704227	0.15511	0.19674455	0.43419	-5.287	0.39814	T	.	.	0.194	0.41526	B	.	.	1.518879	0.19502	14.30	0.83715655333144168	0.14879	0.00610	0.02709	N	AEFDBI	0.036510	0.04877	N	.	.	.	.	.	.	1.33875082419496E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-2.430000	0.01101	-1.440000	0.05434	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	985.83	218	chr15	23440587	.	C	T	985.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=3019;ExcessHet=0.119;FS=0.507;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.57;MQRankSum=1.51;QD=2.65;ReadPosRankSum=0.663;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,28:175:99:1|0:23440581_C_G:425,0,5842:23440581	17	0	2	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.55	10	chr15	28843134	.	C	T	378.55	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	14	0	4	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.71	10	chr15	28843135	.	C	A	378.71	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	14	0	4	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	387.69	11	chr15	28843142	.	C	A	387.69	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=4;MLEAF=0.111;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	14	0	4	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	355.97	11	chr15	28843145	.	A	G	355.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.521;DP=208;ExcessHet=0.3672;FS=1.374;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.083;MQ=54.36;MQRankSum=-2;QD=9.89;ReadPosRankSum=0.932;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.12	12	chr15	28843152	.	C	T	333.12	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.242;DP=208;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.1245;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-0.241;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.28	12	chr15	28843155	.	C	T	333.28	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.21;DP=204;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.124;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-1.016;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	30608689	30608689	A	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.A524C:p.Q175P,GOLGA8T:NM_001355469:exon8:c.A524C:p.Q175P	.	441	1072	9	0	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048349028054	.	0.000599042	0.0004	0	0	0	0	3.137e-05	0	0.0021	0.0001153	3	26028	rs528697991	0.0002	0.0002	8.336e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	2.286e-05	0	0	0	0.0007	8.49e-06	0.0001	0.0022	6.796e-05	7.237e-05	3.983e-05	9.748e-05	0.0017	3.63e-05	2.799e-05	0.0009	0.0006	0	0	6.713e-05	0	0	0	0.0035	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999976	0.18612	N	3.375	0.91388	M	1.58	0.29085	T	-4.37	0.77061	D	0.359	0.40063	.	.	.	.	.	.	.	0.019641727	0.00441	T	0.004835	0.12098	T	.	.	.	.	0.0716867268079	0.06686	0.4793366454140128	0.47853	0.0943749820084	0.10650	.	.	.	0.311943	0.68380	T	-0.455482	0.01048	T	-0.451672	0.27513	T	.	.	.	0.823318	0.48387	T	0.29349217	0.52315	0.3471876	0.60377	0.29349217	0.52315	0.3471876	0.60376	-8.634	0.65313	D	.	.	0.367	0.57640	A	.	.	2.104746	0.26779	17.24	0.9615815482293687	0.28890	0.00181	0.01060	N	AEFI	0.072525	0.14477	N	.	.	.	.	.	.	1.72060249256143E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.883000	0.27838	3.870000	0.40183	0.140000	0.17674	0.071000	0.22100	1.000000	0.68203	0.012000	0.09680	0.9995:0.0:5.0E-4:0.0	4.575	0.11623	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	37	chr15	30608689	.	A	C	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.208;DP=1489;ExcessHet=0;FS=4.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-6.487;QD=7.84;ReadPosRankSum=-0.197;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,32:128:99:0|1:30608689_A_C:1017,0,3902:30608689	18	0	1	0
chr15	31160940	31160940	C	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon1:c.G20A:p.G7D	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0177060293013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.955959	0.26316	N	.	.	.	0.7	0.51474	T	-0.48	0.15379	N	0.124	0.11626	-0.9624	0.38723	T	0.127	0.43380	T	6	0.17611736	0.32579	T	0.017706	0.39515	T	0.038	0.09825	0.219	0.14078	0.425028116352	0.42120	0.2694766976607667	0.26860	0.327312460681	0.34869	0.573286354542	0.49142	T	.	.	.	-0.137726	0.30252	T	-0.435611	0.29300	T	0.875942945480347	0.52582	D	0.451655	0.12799	T	.	.	.	.	.	.	.	.	-5.267	0.39615	T	.	.	0.354	0.56863	A	.	.	2.654911	0.34573	19.66	0.99531011516648848	0.69901	0.19272	0.20596	N	AEFDBI	0.105705	0.21114	N	0.0586659922581688	0.44542	2.726341	0.0504690576014229	0.42093	2.54017	0.618040901578145	0.21861	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.89	3.95	0.44952	2.372000	0.43911	2.627000	0.33669	0.589000	0.31548	0.998000	0.41325	0.979000	0.30280	0.560000	0.30412	0.0:0.6294:0.259:0.1116	5.904	0.18225	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	751.33	77	chr15	31160940	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=788;ExcessHet=0;FS=8.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.024;SOR=1.609	GT:AD:DP:GQ:PL	0/1:38,31:69:99:765,0,979	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|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	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|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	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|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	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|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	2	0	9	8
chr15	33630030	33630030	A	G	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon22:c.A2770G:p.T924A,RYR3:NM_001243996:exon22:c.A2770G:p.T924A	.	.	.	.	.	.	.	.	.	.	.	463997	not_provided|Epileptic_encephalopathy|RYR3-related_disorder|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.464	0.0438866552541	0.0003	0.000599042	0.0008	0.0004	0.0019	0	0.0003	0.0012	0	0	0.0004528	70	154602	rs199638420	0.0004	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0004	0.0008	0.0061	0	0.0002	0.0033	0.0003	0.0011	1.211e-05	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	0.0003	0	0.0012	0.0058	0	9.411e-05	0	0.0005	0.0005	0	0.933	0.02378	T	.	.	.	0.267	0.38961	B	0.181	0.35894	B	0.000056	0.53742	D	0.124126	0.99998	0.54805	D	1.38	0.34346	L	-2.79	0.91019	D	-1.23	0.31170	N	0.412	0.48319	-0.0569	0.81059	T	0.537	0.82897	D	10	0.015210718	0.00319	T	0.043887	0.61211	D	0.464	0.76023	.	.	0.830309762593	0.82870	0.3149664594061715	0.31409	0.245001024247	0.27023	0.700730919838	0.67249	T	0.33437	0.70411	T	-0.216099	0.18527	T	-0.15201	0.59065	T	0.0484008206615471	0.05216	T	0.771723	0.40231	T	0.3227117	0.54868	0.26036417	0.51798	0.3227117	0.54868	0.26036417	0.51797	-4.953	0.36325	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.812258	0.37022	20.4	0.59173143072953882	0.06162	0.97235	0.73490	D	AEFGBI	0.752116	0.69272	D	0.0857893457324524	0.45800	2.830575	0.243252921868917	0.52266	3.402644	0.999990810050714	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	5.796000	0.68735	4.211000	0.42532	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	1.0:0.0:0.0:0.0	15.503	0.75449	952	0.10565	Ryanodine receptor Ryr;.;Ryanodine receptor Ryr;Ryanodine receptor Ryr;Ryanodine receptor Ryr	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.010101	0.010870	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	1080.33	34	chr15	33630030	.	A	G	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=709;ExcessHet=0;FS=5.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.558;SOR=0.309	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1094,0,1006	18	0	1	0
chr15	33662829	33662829	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5299A:p.E1767K,RYR3:NM_001243996:exon35:c.G5299A:p.E1767K	.	1	1490	31	0	0	31	0.0102956	.	.	.	464844	not_provided|Epileptic_encephalopathy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0020	0.0217652	0.0103	0.0065	0.0024	0.0019	0	0.0007	0.0033	0.0657	0.0092366	1428	154602	rs115321092	0.0045	0.0045	0.0029	0.0061	0.0591	0.0044	0.0044	0.0577	0.0571	0.0073	0.0023	0.0006	0.0009	1.875e-05	0.0137	0.0005	0.0065	0.0591	0.0044	0.0044	0.0034	0.0055	0.0667	0.0041	0.0040	0.0607	0.0584	0.0059	0	0.0018	0.0003	0.0021	0	0.0204	0.0007	0.0057	0.0667	0.324	0.13392	T	.	.	.	0.0	0.14655	B	0.002	0.10090	B	0.001534	0.38731	N	0.209134	0.949247	0.37644	D	1.845	0.48678	L	-0.66	0.72348	T	-2.06	0.47175	N	0.415	0.48042	-0.7699	0.56863	T	0.201	0.55709	T	10	0.002911806	0.00047	T	.	.	.	0.102	0.29158	.	.	.	.	0.3836759754911942	0.38282	0.205256797494	0.22944	0.510617077351	0.40309	T	0.40382	0.76046	T	-0.421719	0.01668	T	-0.331432	0.41309	T	0.0167800299287915	0.00433	T	0.79742	0.44372	T	0.21914956	0.44439	0.19626871	0.43349	0.21914956	0.44439	0.19626871	0.43348	-4.184	0.26519	T	.	.	0.078	0.06663	B	.;.;.;.;.	.;.;.;.;.	3.303543	0.45360	22.1	0.99673792313867215	0.78782	0.97066	0.72492	D	AEFI	0.700273	0.65734	D	0.00596074806607942	0.42126	2.532347	0.170316099802096	0.48227	3.041632	0.173261728016299	0.17767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	5.511000	0.66742	8.635000	0.77869	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.696	0.91562	931	0.16308	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.023666	0.020202	0.024457	0.029240	0.000000	0.034483	0.015244	0.026515	0.05263	5214.83	38	chr15	33662829	.	G	A	5214.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.02;DP=1084;ExcessHet=0.119;FS=0.763;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.41;SOR=0.638	GT:AD:DP:GQ:PL	0/1:96,107:203:99:2868,0,2550	17	0	2	0
chr15	36892345	36892345	T	C	exonic	MEIS2	.	nonsynonymous SNV	MEIS2:NM_170675:exon12:c.A1262G:p.H421R,MEIS2:NM_170676:exon12:c.A1241G:p.H414R,MEIS2:NM_001220482:exon13:c.A1241G:p.H414R	.	427	1093	2	0	0	2	0.000914077	.	.	.	2817397	MEIS2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.272	0.021678503916	0.0012	.	0.0009	9.615e-05	0.0003	0	0.0003	0.0014	0.0011	6.064e-05	0.0008215	127	154602	rs144548752	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0015	0.0015	0.0003	0.0002	0	0	0.0007	0.0002	0.0016	0.0007	2.319e-05	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0006	0.0013	0.0013	0.0003	0.0011	0	0	0	9.441e-05	0	0.0016	0.0005	0	0.005	0.63226	D	0.261	0.22962	T	0.004	0.12183	B	0.011	0.15521	B	0.000006	0.62929	D	0.062215	0.999979	0.81001	D	2.005	0.54552	M	-2.05	0.86415	D	-1.22	0.30964	N	0.325	0.41656	-0.1163	0.79721	T	0.561	0.84026	D	10	0.03484735	0.01708	T	0.021679	0.44481	T	0.272	0.58758	.	.	0.834606186738	0.83303	0.5803047821872661	0.57959	0.00704794726514	0.00622	0.725051939487	0.70784	T	0.118869	0.43999	T	-0.235569	0.15919	T	-0.117631	0.61995	T	0.0223554864050598	0.00948	T	0.885811	0.61165	D	0.16556661	0.36836	0.14979218	0.35353	0.16556661	0.36836	0.14979218	0.35352	-6.03	0.48397	T	.	.	0.169	0.37159	B	.;.	.;.	3.596776	0.50782	23.0	0.95373893245570551	0.26788	0.96531	0.69605	D	AEFBI	0.734773	0.68080	D	-0.0354681561136709	0.40253	2.387426	0.0990768978011979	0.44503	2.730767	0.999939307415165	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.586423	0.30347	0	0.714379	0.83352	0	.	.	5.34	4.21	0.48984	4.686000	0.61388	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1317:0.0:0.0:0.8683	11.780	0.51281	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	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1418.33	34	chr15	36892345	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.96;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.682;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1432,0,943	18	0	1	0
chr15	40415430	40415430	T	C	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.T818C:p.I273T,IVD:NM_001354597:exon9:c.T860C:p.I287T,IVD:NM_001354598:exon9:c.T908C:p.I303T,IVD:NM_001354599:exon9:c.T995C:p.I332T,IVD:NM_001354600:exon9:c.T995C:p.I332T,IVD:NM_001354601:exon9:c.T908C:p.I303T,IVD:NM_002225:exon9:c.T908C:p.I303T	Isovaleric acidemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.253783455197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.102	0.48080	T	.	.	.	.	.	.	0.000098	0.51296	D	0.204155	0.999998	0.58761	D	.	.	.	-3.92	0.96370	D	-2.62	0.58733	D	0.675	0.68255	0.778	0.94134	D	0.827	0.94207	D	10	0.7512314	0.75652	D	0.253783	0.89226	D	0.750	0.91413	.	.	0.851762853563	0.85033	.	.	0.749077089882	0.63671	0.736197829247	0.72413	T	0.768068	0.93770	D	0.205998	0.74454	D	0.0581258	0.74120	D	0.951570212841034	0.63590	D	0.987501	0.95770	D	0.32827845	0.55329	0.3083893	0.56857	0.32827845	0.55329	0.3083893	0.56856	-7.329	0.56401	T	.	.	0.785	0.76587	P	.;.;.	.;.;.	4.772259	0.77261	26.7	0.99755018553039909	0.84615	0.95885	0.66573	D	AEFDBCI	0.922784	0.89826	D	0.222249143025715	0.52279	3.403025	0.355595396835878	0.58846	4.057804	0.999999999997629	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.459000	0.79833	7.926000	0.74773	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:0.0:1.0	15.389	0.74451	659	0.61982	Acyl-CoA dehydrogenase/oxidase C-terminal;.;Acyl-CoA dehydrogenase/oxidase 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	.	.	.	.	.	.	.	.	0.02632	702.33	36	chr15	40415430	.	T	C	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.434;DP=693;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.89;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,32:71:99:716,0,970	18	0	1	0
chr15	41847505	41847505	C	T	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon19:c.C2116T:p.R706W,JMJD7-PLA2G4B:NM_005090:exon24:c.C2809T:p.R937W	.	413	1081	27	1	0	29	0.013236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0003	0.00279553	0.0026	0.0006	0.0011	0.0001	0	0.0010	0.0023	0.0138	0.0022186	343	154602	rs141583854	0.0016	0.0015	0.0011	0.0020	0.0155	0.0015	0.0015	0.0148	0.0146	0.0004	0.0011	0.0033	5.062e-05	7.581e-05	0.0054	0.0006	0.0017	0.0155	0.0013	0.0013	0.0011	0.0015	0.0127	0.0012	0.0011	0.0101	0.0092	0.0004	0	0.0030	0.0055	0.0002	9.416e-05	0	0.0007	0.0024	0.0127	0.006	0.61437	D	0.001	0.83351	D	0.999	0.77913	D	0.847	0.60522	P	0.476869	0.12212	N	0.708561	0.999749	0.48716	D	2.89	0.83701	M	3.57	0.04645	T	-5.38	0.84954	D	0.54	0.60241	-1.0668	0.10131	T	0.026	0.11309	T	9	0.0069566667	0.00158	T	.	.	.	0.235	0.53788	.	.	0.46614307118	0.46241	0.6382862768364067	0.64143	0.118988834109	0.13405	0.233523100615	0.02239	T	0.251708	0.62199	T	-0.402265	0.02237	T	-0.338926	0.40465	T	0.0475804560764313	0.05069	T	0.90391	0.66280	D	0.12414599	0.29134	0.09385466	0.22188	0.12414599	0.29134	0.09385466	0.22188	-8.139	0.62013	D	.	.	0.115	0.23005	B	.;.;.	.;.;.	4.018200	0.59328	24.1	0.99812091658319146	0.89620	0.12479	0.17294	N	AEFGBCI	0.177509	0.30476	N	-0.19786510668765	0.33222	1.882414	-0.378526987946722	0.25638	1.411171	0.941950303771863	0.27500	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.87	1.74	0.23636	0.116000	0.15393	1.494000	0.26909	0.598000	0.34611	0.015000	0.19116	0.797000	0.26915	0.303000	0.24570	0.6845:0.3155:0.0:0.0	13.838	0.62917	238	0.90711	.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, 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	0.008290	0.000000	0.008152	0.006993	0.000000	0.008621	0.003049	0.022727	0.05263	4229.83	37	chr15	41847505	.	C	T	4229.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.56;DP=892;ExcessHet=0.119;FS=3.987;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.252;SOR=0.509	GT:AD:DP:GQ:PL	0/1:60,77:137:99:2026,0,1407	17	0	2	0
chr15	41854865	41854865	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon56:c.C9535T:p.R3179C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00330437020961	.	.	1.687e-05	0	0	0	0	1.517e-05	0	6.546e-05	3.23e-05	5	154602	rs749433637	1.715e-05	1.71e-05	1.365e-05	2.07e-05	5.828e-05	1.178e-05	9.95e-06	2.203e-05	1.436e-05	0	4.519e-05	0	0	0	0	1.622e-05	0	5.828e-05	1.315e-05	1.313e-05	2.571e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.178	0.22138	T	0.215	0.26306	T	0.0	0.02946	B	0.001	0.04355	B	0.164983	0.03067	N	1.645850	1	0.08975	N	-1.95	0.00216	N	1.33	0.35031	T	-0.07	0.08033	N	0.102	0.08506	-1.0227	0.22834	T	0.020	0.08500	T	10	0.027763963	0.00917	T	0.003304	0.07329	T	0.040	0.10527	.	.	0.177238962908	0.17366	0.0881556076216947	0.08748	.	.	0.292771458626	0.09328	T	0.009944	0.09021	T	-0.494097	0.00617	T	-0.765365	0.02923	T	0.0270358025341484	0.01549	T	0.318868	0.06391	T	0.037529543	0.04827	0.02033809	0.00131	0.037529543	0.04827	0.02033809	0.00131	-5.143	0.38357	T	.	.	0.066	0.02200	B	.	.	0.021605	0.04434	1.164	0.61617857043597157	0.06754	0.02903	0.07699	N	AEFDGBCI	0.026604	0.02026	N	-1.88401753384987	0.00370	0.01591021	-1.90321621797882	0.00483	0.02137656	0.999995306904867	0.74766	0.646311	0.45356	0	0.573078	0.20572	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.2	-8.71	0.00734	-0.577000	0.05940	0.223000	0.16097	-1.516000	0.01010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1888:0.2135:0.2941:0.3035	0.737	0.00905	216	0.91608	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.003788	0.02632	796.33	34	chr15	41854865	.	G	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=699;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.394;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,33:70:99:810,0,802	18	0	1	0
chr15	42945444	42945444	C	T	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon47:c.G5135A:p.R1712H	Johanson-Blizzard syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	739622	not_provided|UBR1-related_disorder|Microcephaly	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0056556906481	0.0008	0.00139776	0.0011	0.0010	0.0005	0.0027	0	0.0012	0	0.0012	0.0011384	176	154602	rs141828250	0.0014	0.0014	0.0014	0.0014	0.0093	0.0014	0.0014	0.0085	0.0082	0.0004	0.0005	3.826e-05	0.0093	0.0003	0.0005	0.0013	0.0013	0.0015	0.0010	0.0010	0.0009	0.0010	0.0033	0.0008	0.0008	0.0021	0.0017	0.0004	0	0.0005	0	0.0033	9.488e-05	0	0.0014	0.0005	0.0012	1.0	0.00964	T	0.158	0.31629	T	0.0	0.02946	B	0.0	0.01387	B	0.024751	0.26208	N	0.469935	1	0.81001	D	-0.315	0.03579	N	0.82	0.48142	T	-0.13	0.08971	N	0.037	0.01135	-1.0527	0.13655	T	0.027	0.11663	T	10	0.0035677254	0.00064	T	0.005656	0.14621	T	0.096	0.27654	.	.	0.18274738541	0.17906	0.22469064954747142	0.22384	0.198620745402	0.22241	0.272494256496	0.06468	T	0.090637	0.38627	T	-0.624373	0.00103	T	-0.682875	0.06809	T	0.00884334439180937	0.00109	T	0.779722	0.41422	T	0.024477229	0.01283	0.04015185	0.04273	0.024477229	0.01283	0.04015185	0.04272	-7.123	0.54926	T	0.11110454777500434	0.09463	0.067	0.02609	B	.	.	0.324676	0.06990	3.544	0.78883472307405655	0.12494	0.04647	0.10318	N	AEFGBI	0.038927	0.05581	N	-1.45781591521318	0.02156	0.09489369	-1.35026170259291	0.03802	0.1781263	0.0396624914356251	0.14404	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	-3.91	0.03892	-0.415000	0.07170	-3.279000	0.02911	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.933000	0.47100	0.0:0.3635:0.0:0.6365	15.453	0.75018	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1237.33	33	chr15	42945444	.	C	T	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=706;ExcessHet=0;FS=4.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.95;SOR=1.134	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1251,0,933	18	0	1	0
chr15	43366648	43366648	T	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon3:c.A684C:p.R228S,ZSCAN29:NM_001372080:exon4:c.A684C:p.R228S	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00127099583084	0.0004	0.000798722	0.0009	0.0003	0.0007	0.0003	0	0.0003	0.0033	0.0045	0.0008215	127	154602	rs144725049	0.0005	0.0005	0.0004	0.0007	0.0055	0.0005	0.0005	0.0048	0.0047	0.0003	0.0003	0	7.557e-05	0	0.0055	0.0002	0.0007	0.0052	0.0005	0.0005	0.0004	0.0005	0.0058	0.0004	0.0003	0.0041	0.0036	0.0003	0	6.531e-05	0	0.0004	0	0.0034	0.0004	0	0.0058	0.108	0.30235	T	0.025	0.56192	D	0.0	0.12183	B	0.0	0.10090	B	0.981929	0.08088	N	0.991997	1	0.08975	N	0.46	0.12951	N	3.15	0.07820	T	-1.46	0.46673	N	0.043	0.03502	-0.9671	0.37794	T	0.013	0.05225	T	10	0.002346456	0.00035	T	0.001271	0.01733	T	0.034	0.08419	0.349	0.34598	0.0716867268079	0.06686	0.0848550349367013	0.08419	0.105014416328	0.11870	0.257753252983	0.04626	T	0.013195	0.19670	T	-0.626309	0.00101	T	-0.672022	0.07478	T	0.0080243894993895	0.00095	T	0.635136	0.24942	T	0.092038184	0.21582	0.097462766	0.23199	0.092038184	0.21581	0.097462766	0.23198	-2.902	0.09163	T	.	.	0.232	0.46458	B	.;.;.;.	.;.;.;.	-0.343907	0.02430	0.275	0.84055477668051215	0.15071	0.02371	0.06746	N	AEFBI	0.056345	0.10408	N	-1.53725029012623	0.01610	0.07039185	-1.60965286198305	0.01597	0.07246003	0.999999989380312	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.26	-8.52	0.00801	-1.221000	0.03077	-1.717000	0.04857	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.955000	0.50612	0.0:0.0776:0.7622:0.1603	15.106	0.71992	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2206.33	34	chr15	43366648	.	T	G	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.043;SOR=0.7	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2220,0,1983	18	0	1	0
chr15	43477653	43477653	A	G	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon8:c.T895C:p.S299P,TP53BP1:NM_001141980:exon8:c.T895C:p.S299P,TP53BP1:NM_005657:exon8:c.T880C:p.S294P	.	422	1075	25	0	0	25	0.0114943	.	.	.	717955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0064	0.00319489	0.0064	0.0008	0.0022	0	0.0039	0.0076	0.0022	0.0125	0.0063647	984	154602	rs61751060	0.0070	0.0070	0.0067	0.0073	0.0139	0.0069	0.0068	0.0133	0.0130	0.0008	0.0032	0.0069	2.521e-05	0.0033	0.0111	0.0072	0.0062	0.0139	0.0048	0.0048	0.0049	0.0048	0.0120	0.0045	0.0044	0.0095	0.0086	0.0009	0	0.0047	0.0049	0	0.0024	0.0034	0.0075	0.0061	0.0120	0.078	0.41364	T	0.172	0.30241	T	0.992	0.64738	D	0.981	0.75168	D	0.100541	0.19882	N	0.443981	0.928755	0.28855	N	2.3	0.65703	M	3.63	0.11189	T	-1.19	0.48184	N	0.255	0.35620	-1.0849	0.06426	T	0.038	0.16333	T	10	0.005440235	0.00120	T	.	.	.	0.071	0.20720	.	.	0.312529679308	0.30857	0.11211295233820184	0.11140	0.279315344121	0.30423	0.349700629711	0.17878	T	0.252361	0.62274	T	-0.487052	0.00674	T	-0.461362	0.26450	T	0.0203654917493927	0.00736	T	0.829717	0.49530	T	0.07854128	0.17891	0.12804876	0.30812	0.07854128	0.17891	0.12804876	0.30812	-4.526	0.31227	T	.	.	0.128	0.27403	B	.;.;.;.;.	.;.;.;.;.	3.245978	0.44328	21.9	0.99689671145336156	0.79842	0.66100	0.32961	D	AEFDBI	0.304585	0.41224	N	0.229170947818217	0.52616	3.434786	0.161070637973126	0.47730	2.999014	0.912351589583928	0.26393	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.57	0.22490	1.029000	0.29747	4.432000	0.43354	-0.095000	0.16041	0.973000	0.34540	0.999000	0.35428	0.989000	0.64315	0.5007:0.337:0.0:0.1622	5.866	0.18024	17	0.98681	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.000000	0.006793	0.008772	0.000000	0.000000	0.021341	0.026515	0.07895	3941.79	33	chr15	43477653	.	A	G	3941.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.26;DP=852;ExcessHet=0.3672;FS=0.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.119;SOR=0.769	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1447,0,1155	16	0	3	0
chr15	45153994	45153994	G	A	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon27:c.G3568A:p.V1190I,DUOX1:NM_017434:exon28:c.G3568A:p.V1190I	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0425133491227	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs147031273	6.638e-05	6.909e-05	8.036e-05	5.227e-05	0.0002	5.564e-05	5.155e-05	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	1.872e-05	0.0002	6.838e-05	9.939e-05	5.798e-05	7.236e-05	7.223e-05	0.0001	2.692e-05	0.0001	3.976e-05	3.131e-05	5.845e-05	4.241e-05	2.413e-05	0	6.546e-05	0	0	0	0.0034	0.0001	0	0	0.679	0.05899	T	0.832	0.03695	T	0.195	0.29512	B	0.064	0.27215	B	0.000418	0.44736	N	0.192086	0.999995	0.58761	D	0.61	0.15665	N	-2.73	0.90679	D	-0.2	0.10656	N	0.189	0.20660	-0.4851	0.69184	T	0.468	0.79471	T	10	0.1447351	0.27464	T	0.042513	0.60504	D	0.222	0.51872	.	.	0.702979688004	0.70040	0.38552565952720236	0.38467	0.252962964359	0.27862	0.421573221684	0.28053	T	0.122762	0.44667	T	-0.190454	0.22190	T	-0.256304	0.49191	T	0.0163872077269136	0.00406	T	0.849815	0.53996	T	0.18402646	0.39698	0.08494223	0.19577	0.18402646	0.39697	0.08494223	0.19577	-4.637	0.32633	T	.	.	0.079	0.07745	B	.;.;.	.;.;.	2.506338	0.32366	19.02	0.59853370698350383	0.06323	0.89586	0.50145	D	AEFGBI	0.291955	0.40295	N	-0.728650278786387	0.15220	0.765116	-0.67102435016952	0.17687	0.9415728	0.996596427868163	0.34855	0.57788	0.32782	0	0.550933	0.16991	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	2.56	0.29842	2.893000	0.48331	5.971000	0.51999	-0.139000	0.12461	0.999000	0.42656	1.000000	0.68203	0.195000	0.21750	0.1817:0.0:0.8183:0.0	9.24	0.36652	616	0.66398	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	710.33	38	chr15	45153994	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=0.35;SOR=0.616	GT:AD:DP:GQ:PL	0/1:69,31:100:99:724,0,1609	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	0/1:45,62:107:99:1662,0,1264	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	0/1:43,25:68:99:495,0,1082	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	0/1:88,58:154:99:284,0,1715	3	0	13	3
chr15	56631621	56631623	ACT	-	exonic	ZNF280D	.	nonframeshift deletion	ZNF280D:NM_001002843:exon21:c.2776_2778del:p.S926del,ZNF280D:NM_001288588:exon22:c.2815_2817del:p.S939del,ZNF280D:NM_017661:exon22:c.2815_2817del:p.S939del	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.119e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs758560764	2.326e-05	2.326e-05	1.225e-05	3.438e-05	0.0003	1.674e-05	1.477e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0003	1.619e-05	4.967e-05	0.0001	1.972e-05	1.97e-05	3.855e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2756.29	39	chr15	56631620	.	CACT	C	2756.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=863;ExcessHet=0;FS=2.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.685;SOR=0.511	GT:AD:DP:GQ:PL	0/1:76,72:148:99:2770,0,2919	18	0	1	0
chr15	59207979	59207979	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1039G:p.N347D	.	430	1024	68	0	0	68	0.0321361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00472821439629	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79607288	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.316e-05	0.0008	1.288e-05	1.347e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.474e-05	0	0	0.08	0.33585	T	0.101	0.38596	T	0.011	0.15914	B	0.036	0.22909	B	0.003291	0.35154	U	0.227134	0.615938	0.32663	D	1.295	0.32453	L	-0.25	0.67011	T	-2.22	0.49846	N	0.126	0.11912	-0.8740	0.50226	T	0.196	0.55056	T	10	0.14880553	0.28173	T	0.004728	0.11784	T	0.062	0.17934	.	.	0.536616348568	0.53311	0.03866333602263275	0.03812	0.0189453964245	0.01848	0.306285023689	0.11345	T	0.108095	0.42085	T	-0.127537	0.31894	T	-0.420975	0.30964	T	0.306236803531647	0.25260	T	0.586841	0.21439	T	0.2530445	0.48323	0.33686218	0.59483	0.2530445	0.48323	0.33686218	0.59482	-5.914	0.45554	T	.	.	0.069	0.03197	B	.	.	0.917677	0.12926	9.433	0.98872967153225388	0.47684	0.07590	0.13600	N	AEFDBI	0.038607	0.05489	N	-0.795969993998664	0.13414	0.6606697	-0.870301225830774	0.12801	0.6605371	0.967472809720144	0.28980	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	2.42	0.28720	0.587000	0.23611	6.392000	0.55560	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.239000	0.22975	1.0:0.0:0.0:0.0	8.344	0.31422	340	0.86005	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	36	chr15	59207979	.	A	G	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.694;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.95;MQRankSum=-8.398;QD=0.55;ReadPosRankSum=1.6;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2753:59207979	18	0	1	0
chr15	59207981	59207981	C	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.C1041G:p.N347K	.	430	1025	67	0	0	67	0.0316486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0107333217821	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs77368390	4.792e-06	0.0002	2.725e-06	6.881e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	1.318e-05	0.0008	1.289e-05	1.349e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.475e-05	0	0	0.034	0.44029	D	0.115	0.36630	T	0.305	0.32678	B	0.117	0.32014	B	0.003291	0.35154	U	0.227134	0.999999	0.58761	D	1.805	0.47535	L	-0.29	0.67712	T	-3.34	0.66325	D	0.17	0.18103	-0.8079	0.54677	T	0.219	0.58137	T	10	0.21257398	0.37721	T	0.010733	0.27599	T	0.103	0.29403	0.397	0.42426	0.471700387322	0.46796	0.05045534889425341	0.04988	0.0253377058962	0.02582	0.306099057198	0.11317	T	0.302661	0.67505	T	-0.0797341	0.39756	T	-0.352309	0.38941	T	0.683018445968628	0.39926	D	0.776522	0.40874	T	0.32717288	0.55238	0.5131278	0.71866	0.32717288	0.55238	0.5131278	0.71867	-5.282	0.39764	T	.	.	0.118	0.24226	B	.	.	-0.001911	0.04269	1.063	0.96235942516509487	0.29135	0.02801	0.07522	N	AEFDBI	0.047688	0.08056	N	-0.942493850555712	0.09862	0.468649	-1.10702193125262	0.07565	0.3684791	0.76259482655588	0.23535	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	-0.268	0.12295	-0.035000	0.12156	-1.340000	0.05675	-0.828000	0.02899	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:0.2736:0.0:0.7264	5.910	0.18265	340	0.86005	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	51.85	36	chr15	59207981	.	C	G	51.85	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.618;DP=846;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0553;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-7.274;QD=0.33;ReadPosRankSum=1.66;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2753:59207979	17	0	2	0
chr15	59208031	59208031	A	C	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1091C:p.H364P	.	424	1044	54	0	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00486081327491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145956187	6.95e-07	4.31e-05	0	1.398e-06	9.039e-07	0	0	.	.	0	0	0	0	0	0	9.039e-07	0	0	6.575e-06	0.0004	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.04	0.42199	D	0.209	0.26798	T	0.006	0.13644	B	0.016	0.17743	B	0.352047	0.13800	U	0.634852	0.985489	0.40291	D	0.625	0.15840	N	-0.23	0.66652	T	-1.17	0.29933	N	0.144	0.14480	-0.8837	0.49464	T	0.196	0.55028	T	10	0.1232011	0.23384	T	0.004861	0.12192	T	0.221	0.51721	.	.	0.432493127443	0.42867	0.4412992855339442	0.44046	0.0234488037338	0.02381	0.22820186615	0.01838	T	0.087428	0.37940	T	-0.122539	0.32710	T	-0.413795	0.31788	T	0.31803297996521	0.25742	T	0.433957	0.11861	T	0.36126763	0.57932	0.27047408	0.52939	0.36126763	0.57933	0.27047408	0.52938	-8.579	0.64950	D	.	.	0.161	0.35663	B	.	.	0.622097	0.09905	6.665	0.23076867992127034	0.00959	0.78590	0.38796	D	AEFDBI	0.209905	0.33585	N	-1.22873326991558	0.04588	0.2073661	-1.31514284077204	0.04234	0.1992842	0.811020413863431	0.24355	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	-1.62	0.07926	3.643000	0.54109	-4.724000	0.02015	-0.462000	0.05112	1.000000	0.71638	0.000000	0.08366	0.235000	0.22869	0.5639:0.0:0.4361:0.0	5.192	0.14542	341	0.85936	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	36	chr15	59208031	.	A	C	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=797;ExcessHet=0;FS=1.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.65;MQRankSum=-7.516;QD=1.06;ReadPosRankSum=-0.489;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,6:58:75:0|1:59208023_A_G:75,0,2155:59208023	18	0	1	0
chr15	59208039	59208039	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1099G:p.K367E	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0044559325617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386454738	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.09	0.40267	T	0.362	0.33945	B	0.16	0.34752	B	0.003617	0.34713	U	0.179677	1	0.81001	D	2.055	0.56616	M	-0.33	0.68329	T	-2.56	0.55339	D	0.316	0.35620	-0.7192	0.59502	T	0.221	0.58434	T	10	0.3018667	0.47726	T	0.004456	0.10906	T	0.184	0.45763	.	.	0.707097973601	0.70454	0.0805445634393412	0.07989	0.0946744460692	0.10693	0.317170917988	0.12992	T	0.288609	0.66141	T	-0.0918196	0.37777	T	-0.369669	0.36927	T	0.475559115409851	0.31735	T	0.737626	0.35462	T	0.30485794	0.53337	0.2265665	0.47638	0.30485794	0.53337	0.2265665	0.47637	-6.212	0.48020	T	.	.	0.072	0.04316	B	.	.	1.653422	0.21093	15.05	0.96544986378234454	0.30200	0.78226	0.38563	D	AEDBI	0.126814	0.24391	N	-0.476633201795909	0.22848	1.222878	-0.60383256547261	0.19395	1.04034	0.911661248317906	0.26373	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	1.47	0.21832	2.835000	0.47876	6.311000	0.55429	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	1.0:0.0:0.0:0.0	6.659	0.22195	341	0.85936	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	48.33	36	chr15	59208039	.	A	G	48.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.82;MQRankSum=-7.245;QD=0.9;ReadPosRankSum=-1.603;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,5:54:62:0|1:59208023_A_G:62,0,2042:59208023	18	0	1	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	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;Kinesin motor domain|Kinesin motor domain|Kinesin motor 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	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1253.33	36	chr15	69417444	.	A	G	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.064;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.687;SOR=0.673	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1267,0,1010	18	0	1	0
chr15	73283089	73283089	C	T	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.C3355T:p.R1119C,NEO1:NM_001172623:exon23:c.C3388T:p.R1130C,NEO1:NM_002499:exon23:c.C3388T:p.R1130C	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	.	0.0012	0.0117812	0.0058	0.0008	0.0027	0.0425	0.0080	0.0029	0.0099	0.0022	0.0054527	843	154602	rs118087147	0.0038	0.0038	0.0038	0.0038	0.0447	0.0037	0.0037	0.0430	0.0423	0.0007	0.0036	0.0058	0.0447	0.0084	0.0172	0.0020	0.0074	0.0027	0.0048	0.0048	0.0043	0.0052	0.0492	0.0045	0.0044	0.0443	0.0424	0.0013	0	0.0057	0.0046	0.0492	0.0109	0.0136	0.0025	0.0071	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.1	0.63077	T	-5.73	0.89334	D	0.783	0.83781	-0.6548	0.62504	T	0.093	0.35283	T	10	0.007161528	0.00163	T	.	.	.	0.495	0.78036	.	.	0.589392501938	0.58614	0.5518740546356979	0.55113	0.865989731613	0.69205	0.706761300564	0.68123	T	0.760	0.93477	D	-0.037222	0.46360	T	0.205173	0.83407	D	0.0469657027440284	0.04958	T	0.990763	0.97171	D	0.71883744	0.79097	0.53594667	0.73184	0.71883744	0.79098	0.53594667	0.73185	-11.548	0.83197	D	.	.	0.478	0.69452	A	.;.;.;.;.	.;.;.;.;.	4.829910	0.78746	27.0	0.99942508714113965	0.99824	0.94842	0.62518	D	AEFBHCI	0.934120	0.92702	D	0.742588192925991	0.82422	7.758413	0.73252353166188	0.84845	8.407764	0.999999999999965	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	7.304000	0.78201	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.333	0.94287	680	0.59965	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.023392	0.000000	0.008621	0.012195	0.011364	0.05263	2570.83	33	chr15	73283089	.	C	T	2570.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.477;DP=801;ExcessHet=0.119;FS=9.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.976;SOR=0.311	GT:AD:DP:GQ:PL	0/1:45,37:82:99:858,0,1034	17	0	2	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:41,19:60:18:18,0,849	9	0	10	0
chr15	78629898	78629898	C	T	exonic	CHRNB4	.	nonsynonymous SNV	CHRNB4:NM_000750:exon5:c.G407A:p.R136Q	.	319	1188	15	0	0	15	0.00627353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0237201777265	0.0059	0.00299521	0.0058	0.0023	0.0021	0	0.0012	0.0075	0.0046	0.0088	0.0059378	918	154602	rs56095004	0.0082	0.0082	0.0082	0.0081	0.0094	0.0081	0.0080	0.0092	0.0092	0.0008	0.0024	0.0067	2.519e-05	0.0017	0.0021	0.0094	0.0068	0.0079	0.0054	0.0054	0.0058	0.0049	0.0100	0.0051	0.0050	0.0086	0.0083	0.0015	0	0.0031	0.0052	0	0.0013	0.0068	0.0092	0.0028	0.0100	0.298	0.14595	T	0.298	0.20486	T	0.001	0.07471	B	0.002	0.06944	B	0.508783	0.11867	N	0.768419	1	0.08975	N	0.86	0.21358	L	-1.2	0.78537	T	-0.15	0.09297	N	0.019	0.00279	-1.0123	0.26196	T	0.123	0.42462	T	10	0.0066691935	0.00151	T	0.02372	0.46692	T	0.118	0.32913	.	.	0.451023696535	0.44722	0.3815583484376335	0.38070	0.349453596639	0.36798	0.254002094269	0.04202	T	0.141161	0.47608	T	-0.512798	0.00484	T	-0.494439	0.22927	T	0.000917445682811109	0.00009	T	0.164984	0.01519	T	0.036515042	0.04506	0.025596438	0.00610	0.036515042	0.04506	0.025596438	0.00610	-4.803	0.34627	T	.	.	0.086	0.10545	B	.	.	0.612269	0.09808	6.572	0.93740863074706704	0.23675	0.03564	0.08772	N	AEFDGBI	0.147673	0.27140	N	-1.27666627287001	0.03958	0.1777752	-1.22357769874387	0.05533	0.2638888	0.00862312750380765	0.11710	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	5.12	0.567	0.16510	-0.244000	0.08921	-3.668000	0.02618	-2.483000	0.00269	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1311:0.3677:0.1473:0.3539	1.580	0.02474	835	0.38313	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	rs56095004	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1882.33	35	chr15	78629898	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=809;ExcessHet=0;FS=7.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.007;SOR=1.211	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1896,0,2135	18	0	1	0
chr15	78766625	78766625	G	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3286A:p.P1096T	.	450	1061	10	1	0	12	0.00562324	.	.	.	2814399	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00759051114704	0.0049	0.00299521	0.0059	0.0026	0.0022	0	0.0012	0.0078	0.0024	0.0078	0.0050646	783	154602	rs147739185	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0007	0.0021	0.0067	0	0.0017	0.0032	0.0096	0.0068	0.0086	0.0054	0.0054	0.0056	0.0051	0.0106	0.0050	0.0049	0.0085	0.0082	0.0017	0	0.0025	0.0052	0	0.0013	0.0034	0.0091	0.0019	0.0106	0.263	0.16412	T	0.507	0.10930	T	0.799	0.44910	P	0.214	0.37471	B	0.314608	0.04036	N	1.452910	1	0.08975	N	1.735	0.44892	L	1.32	0.35219	T	-0.87	0.23590	N	0.214	0.23884	-1.0508	0.14175	T	0.049	0.20750	T	10	0.00807026	0.00183	T	0.007591	0.20139	T	0.049	0.13647	.	.	0.232513804876	0.22884	0.36712390816008983	0.36626	0.243943641455	0.26902	0.385494560003	0.23032	T	0.010987	0.09859	T	-0.573428	0.00211	T	-0.590634	0.13610	T	0.00404997857229894	0.00043	T	0.39976	0.10162	T	0.03786622	0.04935	0.036836218	0.03211	0.03786622	0.04935	0.036836218	0.03211	-4.9	0.35735	T	.	.	0.068	0.02861	B	.	.	0.619214	0.09878	6.637	0.69191770244208706	0.08894	0.41336	0.26635	N	AEFDBI	0.094450	0.19096	N	-0.474648709048877	0.22913	1.22682	-0.54320239779956	0.20986	1.133196	0.00755152155824172	0.11493	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567339	0.31927	0	.	.	4.3	2.32	0.27895	0.660000	0.24691	0.396000	0.17945	0.509000	0.23192	0.719000	0.28811	0.000000	0.08366	0.001000	0.02609	0.1076:0.196:0.6964:0.0	6.350	0.20574	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	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	0.003941	0.000000	0.002732	0.004202	0.000000	0.000000	0.003497	0.004065	0.02632	1458.33	38	chr15	78766625	.	G	T	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=951;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=0.768;QD=18.23;ReadPosRankSum=-0.857;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,39:80:99:0|1:78766609_T_C:1472,0,1586:78766609	18	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,26:187:99:.:.:621,0,5248:.	4	1	5	9
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	6	1	5	7
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	564.74	17	chr15	82345025	.	G	*	564.74	.	AC=4;AF=0.118;AN=34;BaseQRankSum=2.07;DP=1407;ExcessHet=3.116;FS=20.05;InbreedingCoeff=-0.1871;MLEAC=4;MLEAF=0.118;MQ=44.55;MQRankSum=-0.625;QD=0.92;ReadPosRankSum=-1.64;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	13	0	4	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	13	0	6	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	9	0	10	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,40:188:99:.:.:876,0,5252:.	13	0	5	1
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	0/1:19,26:45:99:667,0,455	17	0	2	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	1/1:0,33:33:99:.:.:1431,101,0:.	8	2	9	0
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	0/1:104,106:210:99:2783,0,2744	17	0	2	0
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	0/1:93,113:206:99:2732,0,2145	17	0	2	0
chr16	729430	729430	C	A	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_001323636:exon8:c.C743A:p.A248D,HAGHL:NM_032304:exon8:c.C823A:p.L275I,HAGHL:NM_001290137:exon9:c.C823A:p.L275I,HAGHL:NM_001290139:exon9:c.C823A:p.L275I,HAGHL:NM_001323635:exon9:c.C823A:p.L275I	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	.	0.0091853	0.0324	0.0068	0.0192	0	.	0.0042	0.0161	0.0464	0.003357	519	154602	rs372809550	0.0037	0.0037	0.0023	0.0052	0.0513	0.0037	0.0036	0.0499	0.0494	0.0004	0.0009	0.0048	0.0027	0.0014	0.0021	0.0005	0.0051	0.0513	0.0025	0.0025	0.0018	0.0033	0.0530	0.0023	0.0022	0.0477	0.0456	0.0004	0	0.0021	0.0017	0.0027	0.0008	0	0.0006	0.0057	0.0530	0.016	0.51853	D	0.04	0.50809	D	0.872	0.47902	P	0.495	0.47504	P	.	.	.	.	1	0.81001	D	.	.	.	-3.88	0.95953	D	-0.39	0.13611	N	0.414	0.45426	0.249	0.86726	D	0.773	0.92300	D	8	0.0046382844	0.00097	T	.	.	.	0.283	0.60100	.	.	.	.	0.3518972202698721	0.35103	0.704196183735	0.61298	0.560136079788	0.47287	T	.	.	.	-0.274487	0.11262	T	-0.126832	0.61236	T	0.0228496833204264	0.01006	T	0.719828	0.33277	T	.	.	.	.	.	.	.	.	-5.681	0.43524	T	.	.	0.178	0.38871	B	.	.	2.602131	0.33775	19.44	0.98784422998090271	0.46190	0.61405	0.31475	D	AEFGBHCI	0.295734	0.40577	N	-0.185755344916459	0.33726	1.916763	-0.311073570410351	0.27740	1.541444	0.999999985379019	0.74766	0.650006	0.45971	0	0.581341	0.33841	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	3.04	1.0	0.18999	0.271000	0.18390	1.089000	0.23963	-0.180000	0.10397	0.003000	0.16062	0.013000	0.20296	0.100000	0.18284	0.1913:0.5749:0.0:0.2338	3.735	0.08034	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	0.007453	0.000000	0.000000	0.012712	0.000000	0.000000	0.012000	0.010417	0.02632	776.33	35	chr16	729430	.	C	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.388;DP=767;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.096;SOR=0.658	GT:AD:DP:GQ:PL	0/1:36,33:69:99:790,0,956	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	0/1:71,47:118:99:1015,0,1841	17	0	2	0
chr16	4509433	4509433	G	C	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon4:c.G631C:p.A211P,HMOX2:NM_001127205:exon5:c.G718C:p.A240P,HMOX2:NM_001127206:exon5:c.G718C:p.A240P,HMOX2:NM_001286268:exon5:c.G718C:p.A240P,HMOX2:NM_002134:exon5:c.G718C:p.A240P,HMOX2:NM_001127204:exon6:c.G718C:p.A240P,HMOX2:NM_001286267:exon6:c.G880C:p.A294P,HMOX2:NM_001286269:exon6:c.G718C:p.A240P,HMOX2:NM_001286270:exon7:c.G718C:p.A240P	.	423	1087	11	1	0	13	0.00594422	.	.	.	2197304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00928104646333	0.0006	0.000998403	0.0007	0.0003	0.0003	0	0	0.0011	0.0011	0.0005	0.000705	109	154602	rs149714752	0.0007	0.0007	0.0006	0.0008	0.0069	0.0007	0.0007	0.0052	0.0046	0.0007	0.0006	0.0070	0	0.0001	0.0069	0.0006	0.0012	0.0007	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0058	0	0	0.0068	0.0006	0.0014	0.0008	0.127	0.27080	T	0.069	0.46182	T	0.938	0.52538	P	0.142	0.33681	B	0.001916	0.37691	N	0.311936	0.797064	0.29159	N	2.35	0.67516	M	1.93	0.22881	T	-1.27	0.31981	N	0.546	0.57263	-0.9992	0.30143	T	0.040	0.17404	T	10	0.008799285	0.00199	T	0.009281	0.24366	T	0.076	0.22200	.	.	0.384252928164	0.38032	0.7363986177957625	0.73584	0.201851073851	0.22596	0.376824975014	0.21805	T	0.395825	0.75461	T	-0.322666	0.06682	T	-0.310378	0.43618	T	0.0144720432120896	0.00294	T	0.811219	0.46271	T	0.4498263	0.64030	0.3063525	0.56660	0.4498263	0.64030	0.3063525	0.56659	-3.845	0.23038	T	.	.	0.653	0.71063	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.506315	0.49079	22.7	0.99684453226970837	0.79507	0.87810	0.47478	D	AEFDBCI	0.912970	0.87431	D	0.181232075835268	0.50298	3.22118	0.220786183200403	0.51001	3.286616	0.999995448483458	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	4.36	0.51643	2.891000	0.48316	5.815000	0.50038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.2558:0.0:0.7442:0.0	6.818	0.23027	520	0.74355	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008152	0.002924	0.000000	0.008621	0.003049	0.015152	0.02632	1342.33	44	chr16	4509433	.	G	C	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.179;SOR=0.616	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1356,0,1226	18	0	1	0
chr16	4575667	4575667	C	G	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon5:c.C1187G:p.P396R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0125208144502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.061	0.45530	T	0.996	0.68779	D	0.907	0.64423	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.81	0.42575	N	0.254	0.28732	-1.0180	0.24366	T	0.140	0.45941	T	8	0.21097541	0.37510	T	0.012521	0.31165	T	0.096	0.27654	0.369	0.37850	0.166414681773	0.16258	0.3297300274073882	0.32886	.	.	.	.	.	0.005362	0.04811	T	-0.168004	0.25537	T	-0.479103	0.24542	T	0.591538255849221	0.36067	D	0.442956	0.12306	T	0.07074175	0.15608	0.1655197	0.38287	0.07074175	0.15608	0.1655197	0.38286	-5.009	0.36938	T	.	.	0.165	0.36416	B	.	.	1.481974	0.19077	14.08	0.99737607768760328	0.83264	0.12697	0.17425	N	AEFDBI	0.039017	0.05607	N	-0.187693187846414	0.33646	1.91123	-0.349903951934038	0.26512	1.464872	0.00368322676929404	0.10235	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.49	3.49	0.39065	-1.246000	0.03007	-0.545000	0.08561	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:1.0:0.0:0.0	10.804	0.45709	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	674.33	34	chr16	4575667	.	C	G	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.113;DP=685;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.943;SOR=0.551	GT:AD:DP:GQ:PL	0/1:27,29:56:99:688,0,713	18	0	1	0
chr16	11424262	11424263	CG	-	exonic	LOC400499	.	frameshift deletion	LOC400499:NM_001370704:exon40:c.5990_5991del:p.A1997Gfs*56	.	981	538	3	0	0	3	0.00278035	.	.	.	4021153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0031	0	0.0213	0	0	0.0033	0	0	0.0002689	7	26028	rs556781068	0.0027	0.0013	0.0027	0.0027	0.0116	0.0025	0.0025	0.0071	0.0058	0.0004	0.0048	0.0056	0	0.0003	0.0116	0.0031	0.0037	0.0020	0.0022	0.0022	0.0023	0.0020	0.0054	0.0020	0.0019	0.0044	0.0041	0.0006	0	0.0054	0.0072	0	9.409e-05	0.0102	0.0025	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1827.29	33	chr16	11424261	.	CCG	C	1827.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=1386;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.021;SOR=0.823	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1841,0,1694	18	0	1	0
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T,NPIPA2:NM_001277324:exon8:c.T770C:p.I257T	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	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	.	.	.	.	.	.	.	.	0.08333	33.45	17	chr16	14726010	.	T	C	33.45	.	AC=2;AF=0.083;AN=24;DP=303;ExcessHet=0;FS=0;InbreedingCoeff=0.2802;MLEAC=2;MLEAF=0.083;MQ=49.24;QD=16.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr16	16177571	16177571	A	G	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon19:c.T2471C:p.I824T,ABCC6:NM_001351800:exon19:c.T2129C:p.I710T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0998638552522	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976737187	5.472e-06	5.472e-06	4.084e-06	6.875e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.096	0.39340	T	0.081	0.24602	B	0.434	0.45506	B	0.878831	0.07222	U	1.097080	0.592438	0.32468	D	2.015	0.55033	M	-0.36	0.68754	T	-3.33	0.66206	D	0.309	0.34874	-0.4282	0.71125	T	0.478	0.80002	T	10	0.43807924	0.57923	T	0.099864	0.77178	D	0.409	0.72099	0.531	0.63855	0.815200526847	0.81345	0.6989783104279258	0.69838	0.374517623559	0.38912	0.315728604794	0.12774	T	0.513026	0.82822	D	-0.00634109	0.50775	T	-0.246885	0.50125	T	0.917972981929779	0.57604	D	0.911709	0.68653	D	0.6634523	0.76083	0.3846807	0.63403	0.6634523	0.76085	0.3846807	0.63403	-6.99	0.53961	T	0.3408810388560385	0.43861	0.181	0.39339	B	.	.	2.870671	0.37961	20.6	0.99597181170563409	0.73983	0.96607	0.69990	D	AEFBI	0.815337	0.73734	D	0.142773114980081	0.48471	3.05892	0.173377823911534	0.48394	3.055837	0.999789518729955	0.43007	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	4.533000	0.60328	7.025000	0.57281	0.754000	0.88378	1.000000	0.71638	0.981000	0.30433	0.340000	0.25432	1.0:0.0:0.0:0.0	13.788	0.62610	883	0.28872	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1007.33	36	chr16	16177571	.	A	G	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.953;DP=810;ExcessHet=0;FS=4.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.382;SOR=1.244	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1021,0,1181	18	0	1	0
chr16	19481431	19481431	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon11:c.G1591A:p.V531I,TMC5:NM_001308161:exon14:c.G2173A:p.V725I,TMC5:NM_001105248:exon15:c.G2329A:p.V777I,TMC5:NM_001105249:exon15:c.G2329A:p.V777I,TMC5:NM_001261841:exon15:c.G2329A:p.V777I	.	.	.	.	.	.	.	.	.	.	.	2401225	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0346653771666	.	0.000199681	3.295e-05	0	8.64e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs200637158	2.737e-05	2.805e-05	1.906e-05	3.575e-05	0.0001	2.063e-05	1.816e-05	3.983e-05	2.373e-05	0.0001	8.944e-05	0.0003	5.038e-05	0	0	1.799e-05	4.968e-05	0	7.223e-05	7.874e-05	5.141e-05	9.4e-05	9.626e-05	3.969e-05	3.126e-05	3.243e-05	1.911e-05	9.626e-05	0	6.54e-05	0.0006	0	0	0	5.88e-05	0	0	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000004	0.62929	D	0.061494	0.999622	0.49076	D	1.84	0.48285	L	-0.41	0.69413	T	-0.99	0.26200	N	0.569	0.59223	-0.1653	0.78542	T	0.445	0.78179	T	10	0.41818434	0.56684	T	0.034665	0.55831	D	0.439	0.74306	.	.	0.750264353821	0.74800	0.6320366922052337	0.63137	0.515532960109	0.49461	0.537605404854	0.44107	T	0.044771	0.33090	T	-0.0149659	0.49568	T	-0.0335722	0.68131	D	0.405401557683945	0.29145	T	0.962504	0.85970	D	0.23829743	0.46705	0.2294408	0.48016	0.23829743	0.46705	0.2294408	0.48015	-9.829	0.74858	D	.	.	0.164	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.062597	0.84388	28.3	0.99848233507398532	0.92750	0.97235	0.73490	D	AEFDGBHCI	0.898510	0.84187	D	0.719094685780687	0.80884	7.394337	0.676090125109605	0.80566	7.32765	0.999999999999251	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.38	4.42	0.52775	8.779000	0.91433	9.753000	0.81480	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.08:0.0:0.92:0.0	13.005	0.58101	579	0.69780	TMC domain;.;TMC domain;TMC domain;.;.;TMC 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	2346.33	39	chr16	19481431	.	G	A	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=823;ExcessHet=0;FS=6.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.703;SOR=1.131	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2360,0,2323	18	0	1	0
chr16	20359459	20359459	C	G	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon12:c.G1615C:p.E539Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00214406773171	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756352839	6.156e-06	6.156e-06	4.084e-06	8.25e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.139	0.33666	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	3.68	0.04151	T	-0.51	0.15986	N	0.094	0.07398	-0.9335	0.43620	T	0.010	0.03537	T	9	0.059050262	0.07038	T	0.002144	0.03989	T	0.012	0.01476	0.183	0.09131	0.162503812791	0.15892	0.2064135948974241	0.20558	0.0643614342175	0.07174	0.329471468925	0.14854	T	0.002875	0.02268	T	-0.463853	0.00930	T	-0.807215	0.01729	T	0.0231854248190812	0.01045	T	0.39886	0.10126	T	0.04613176	0.07671	0.032236286	0.01928	0.04613176	0.07670	0.032236286	0.01928	-4.325	0.28526	T	.	.	0.084	0.09820	B	.	.	0.070221	0.04788	1.401	0.84347785142654219	0.15239	0.03168	0.08142	N	AEFBI	0.039532	0.05757	N	-1.2028066851834	0.04959	0.2249634	-1.24891027139745	0.05147	0.2445619	1.57587437427235E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.42	-1.58	0.08029	0.080000	0.14657	-0.069000	0.12322	-2.133000	0.00380	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3694:0.3233:0.3073	4.227	0.10038	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1862.33	35	chr16	20359459	.	C	G	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.449;SOR=0.69	GT:AD:DP:GQ:PL	0/1:103,72:175:99:1876,0,2498	18	0	1	0
chr16	21404908	21404964	GGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA	-	exonic	NPIPB3	.	unknown	UNKNOWN	.	458	1062	1	0	1	2	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.781e-05	0.0001	0.0006	0.0002	0	0	.	.	.	.	4.077e-05	0.0002	3.576e-05	4.582e-05	4.657e-05	3.211e-05	2.94e-05	2.919e-05	2.594e-05	3e-05	2.249e-05	7.685e-05	0	0	0	3.874e-05	0.0001	4.657e-05	1.376e-05	8.584e-05	1.337e-05	1.416e-05	2.987e-05	2.29e-06	8.6e-07	4.96e-06	1.86e-06	0	0	0	0	0	0	0	2.987e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2811.81	186	chr16	21404907	.	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA	G	2811.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=2152;ExcessHet=0.119;FS=0.695;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=37.65;MQRankSum=-0.013;QD=3.68;ReadPosRankSum=4.93;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,20:254:99:0|1:21404907_GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA_G:121,0,8955:21404907	18	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6813.75	42	chr16	22534047	.	TACCCTCAGCTCC	T	6813.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=1871;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.91;MQRankSum=-2.016;QD=6.14;ReadPosRankSum=-1.195;SOR=0.649	GT:AD:DP:GQ:PL	0/1:266,64:330:99:1830,0,10810	16	0	3	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.07895	5963.79	33	chr16	24939524	.	C	T	5963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.816;DP=1014;ExcessHet=0.3672;FS=1.135;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.456;SOR=0.591	GT:AD:DP:GQ:PL	0/1:60,88:148:99:2246,0,1515	16	0	3	0
chr16	29483963	29483963	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G2513A:p.R838Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00120273127369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167522881	4.991e-05	0.0001	6.181e-05	3.905e-05	0.0002	3.365e-05	2.787e-05	7.248e-05	4.328e-05	8.143e-05	0.0002	0	0.0001	3.404e-05	0	3.424e-05	7.777e-05	2.199e-05	0	1.693e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.317	0.19304	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-1.0371	0.18202	T	0.044	0.19029	T	5	0.10215083	0.18705	T	0.001203	0.01558	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.28205	0.10452	T	-0.642922	0.09458	T	0.394968346511374	0.28753	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	1.726600	0.21980	15.43	0.99334798828212822	0.59934	0.00150	0.00907	N	AEFI	0.044582	0.07190	N	-0.78406096867286	0.13725	0.6782261	-1.04974586968734	0.08712	0.429713	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.076000	0.14570	-1.391000	0.05549	0.084000	0.17577	0.014000	0.18986	0.002000	0.18203	0.013000	0.09966	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	52.33	16	chr16	29483963	.	C	T	52.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=21.97;MQRankSum=1.65;QD=2.28;ReadPosRankSum=-1.157;SOR=0.095	GT:AD:DP:GQ:PL	0/1:18,5:23:66:66,0,406	18	0	1	0
chr16	29485178	29485178	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G1298A:p.R433H	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0425807516574	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs372014128	0.0005	0.0003	0.0005	0.0005	0.0062	0.0004	0.0004	0.0037	0.0030	0.0062	0.0004	0.0022	0.0010	0.0006	0.0020	0.0001	0.0006	0.0010	0	3.994e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	0.124	0.27426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.0	0.21473	T	-1.05	0.27463	N	.	.	-0.9616	0.38877	T	0.027	0.11397	T	3	0.1120449	0.21002	T	0.042581	0.60541	D	0.069	0.20116	0.114	0.02306	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.327404	0.06310	T	-0.708069	0.05396	T	0.114731381982843	0.13907	T	0.859914	0.55237	D	.	.	.	.	.	.	.	.	-9.387	0.70153	D	.	.	0.310	0.53732	B	.	.	1.367939	0.17776	13.36	0.99272520015362786	0.57593	0.00086	0.00577	N	AEFI	0.038066	0.05333	N	-0.279026561366107	0.29959	1.666114	-0.396229107438735	0.25110	1.378909	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	.	.	.	-1.913000	0.01672	-1.983000	0.04393	-1.744000	0.00698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	92.61	20	chr16	29485178	.	C	T	92.61	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.792;DP=241;ExcessHet=0;FS=0;InbreedingCoeff=0.1451;MLEAC=1;MLEAF=0.031;MQ=31.07;MQRankSum=0.903;QD=9.26;ReadPosRankSum=0.48;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:29485178_C_T:105,0,261:29485178	15	0	1	3
chr16	30121836	30121836	G	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.C341G:p.A114G,MAPK3:NM_001109891:exon2:c.C341G:p.A114G,MAPK3:NM_002746:exon2:c.C341G:p.A114G	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00831672813316	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs61736373	0.0002	0.0002	0.0002	0.0002	0.0043	0.0001	0.0001	0.0030	0.0026	0	0.0001	0	0	1.878e-05	0.0043	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.897e-05	4.809e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0006	0.288	0.15149	T	0.367	0.18018	T	0.0	0.14184	B	0.002	0.19048	B	0.001497	0.38855	N	0.290510	0.965175	0.81001	D	0.56	0.15190	N	0.99	0.41750	T	-1.08	0.31576	N	0.217	0.28616	-1.0581	0.12235	T	0.062	0.25994	T	10	0.11001718	0.20547	T	0.008317	0.22029	T	0.020	0.03691	.	.	0.780492144191	0.77847	0.11723864153372086	0.11651	0.658889439953	0.58774	0.514886856079	0.40907	T	0.166817	0.51321	T	-0.446337	0.01187	T	-0.562753	0.16119	T	0.0287946737972913	0.01806	T	0.89621	0.63872	D	0.2789433	0.50946	0.19636172	0.43362	0.2789433	0.50946	0.19636172	0.43361	-5.93	0.50101	T	.	.	0.081	0.11749	B	.;.;.;.;.	.;.;.;.;.	4.313605	0.65958	24.9	0.97427858710050308	0.33911	0.86912	0.46301	D	AEFDGBHCI	0.498334	0.53248	N	-0.0412861623660659	0.39992	2.367522	0.0857258348816602	0.43830	2.676668	0.99999960249252	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.48	4.5	0.54382	3.232000	0.51003	6.548000	0.55903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1438:0.5765:0.2797	8.710	0.33537	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	835.33	33	chr16	30121836	.	G	C	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.474;SOR=0.782	GT:AD:DP:GQ:PL	0/1:44,33:77:99:849,0,1101	18	0	1	0
chr16	30510917	30510917	A	G	exonic	ITGAL	.	nonsynonymous SNV	ITGAL:NM_001114380:exon21:c.A2404G:p.S802G,ITGAL:NM_002209:exon23:c.A2656G:p.S886G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0339456783903	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774887449	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.34982	T	0.707	0.31629	T	0.019	0.31074	B	0.022	0.38155	B	0.030788	0.25258	N	0.344889	0.954393	0.26371	N	2.075	0.57047	M	0.67	0.52187	T	-1.49	0.36980	N	0.077	0.13484	-1.0100	0.26917	T	0.116	0.40919	T	10	0.13132253	0.24993	T	0.033946	0.55339	D	0.057	0.16321	0.575	0.69957	0.618957995044	0.61587	0.29656703534388323	0.29569	0.305546534746	0.32858	0.358448654413	0.19159	T	0.109617	0.42363	T	-0.26382	0.12457	T	-0.519881	0.20307	T	0.305750399827957	0.25240	T	0.731327	0.34690	T	0.25886375	0.48937	0.22019182	0.46785	0.25886375	0.48937	0.22019182	0.46784	-6.125	0.47314	T	.	.	0.088	0.18331	B	.;.;.	.;.;.	2.072605	0.26359	17.09	0.979520610746624	0.37107	0.71368	0.34983	D	AEFBI	0.493697	0.52980	N	-0.289489168746382	0.29553	1.639903	-0.21218030754348	0.31098	1.75679	0.450001897698714	0.20531	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.4	3.29	0.36801	2.435000	0.44469	4.102000	0.41870	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.8784:0.0:0.1216:0.0	6.371	0.20684	277	0.89083	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	1820.33	38	chr16	30510917	.	A	G	1820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.003;DP=785;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.55;SOR=0.805	GT:AD:DP:GQ:PL	0/1:59,74:133:99:1834,0,1658	18	0	1	0
chr16	30651858	30651858	G	A	exonic	PRR14	.	nonsynonymous SNV	PRR14:NM_001320464:exon3:c.G86A:p.S29N,PRR14:NM_024031:exon3:c.G86A:p.S29N	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.017517997946	.	.	8.758e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750655752	9.622e-06	9.577e-06	1.231e-05	6.908e-06	0.0003	5.58e-06	4.37e-06	6.131e-05	2.536e-05	0	0	0	2.526e-05	0	0.0003	7.203e-06	4.979e-05	0	1.97e-05	1.969e-05	1.285e-05	2.687e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0009	0	0.006	0.68238	D	0.109	0.92824	T	0.982	0.60036	D	0.832	0.59730	P	0.004870	0.33312	N	0.210805	0.99694	0.22847	N	2.32	0.66415	M	0.59	0.53943	T	-2.12	0.56466	N	0.543	0.57006	-0.9198	0.45581	T	0.210	0.56973	T	10	0.24080163	0.41247	T	0.017518	0.39251	T	0.103	0.29403	0.148	0.05138	0.638579438245	0.63560	0.23326119055605593	0.23241	0.58721386273	0.54309	0.613195598125	0.54767	T	0.035178	0.23617	T	-0.337059	0.05594	T	-0.549481	0.17376	T	0.784576505543151	0.45338	D	0.70183	0.32156	T	0.0817701	0.18804	0.08567237	0.19797	0.0817701	0.18804	0.08567237	0.19796	-5.9	0.45435	T	.	.	0.510	0.65038	A	.;.;.;.	.;.;.;.	3.844584	0.55656	23.6	0.99656304633468829	0.77631	0.49725	0.28499	N	AEFDGBCI	0.128665	0.24653	N	0.451888287940108	0.64310	4.682666	0.422369757886461	0.62960	4.520778	0.999999921099802	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	5.38	2.75	0.31439	1.585000	0.36210	4.770000	0.44768	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.1003:0.2781:0.6216:0.0	6.326	0.20449	48	0.97687	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1510.33	37	chr16	30651858	.	G	A	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.22;DP=747;ExcessHet=0;FS=1.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.123;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,58:103:99:1524,0,1162	18	0	1	0
chr16	31224601	31224601	A	G	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon7:c.A1280G:p.Y427C	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	.	7.9e-05	0.000998403	0.0060	0	0.0019	0	0	0.0019	0.0133	0.0109	0.0009573	148	154602	rs373379714	0.0009	0.0009	0.0006	0.0013	0.0094	0.0009	0.0009	0.0088	0.0086	9.297e-05	0.0002	0.0002	5.413e-05	0	0.0060	0.0004	0.0010	0.0094	0.0005	0.0005	0.0003	0.0007	0.0081	0.0004	0.0004	0.0061	0.0054	7.221e-05	0	6.533e-05	0.0003	0.0002	0	0.0136	0.0004	0.0019	0.0081	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.80445	D	0.001956	0.37596	N	0.187062	0.906101	0.36291	D	2.79	0.81396	M	-0.45	0.69896	T	-7.72	0.95696	D	0.637	0.64989	0.055	0.83333	D	0.455	0.78767	T	10	0.020818084	0.00487	T	.	.	.	0.511	0.79033	.	.	0.911012070045	0.91011	0.9826015648907807	0.98252	.	.	0.867136359215	0.92156	D	0.684247	0.90759	D	-0.18539	0.22936	T	-0.0331028	0.68163	D	0.120148853941037	0.14445	T	0.833717	0.50261	T	0.6480137	0.75258	0.5753286	0.75398	0.6480137	0.75259	0.5753286	0.75399	-8.964	0.67465	D	.	.	0.700	0.72976	P	.	.	4.458120	0.69356	25.4	0.99668876165733933	0.78458	0.70498	0.34615	D	AEFDBI	0.347999	0.44228	N	0.420161312207766	0.62532	4.47057	0.315909048899862	0.56475	3.810792	0.00675668737134349	0.11300	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.69	4.55	0.55429	3.155000	0.50398	.	.	0.746000	0.86710	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.7274:0.0:0.0:0.2726	9.536	0.38387	189	0.92630	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007157	0.000000	0.000000	0.014706	0.000000	0.008929	0.012739	0.015152	0.02632	1262.33	38	chr16	31224601	.	A	G	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=735;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=0.696;SOR=0.44	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1276,0,886	18	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G,ITGAX:NM_001286375:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	114.12	65	chr16	31360327	.	C	G	114.12	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-0.72;DP=907;ExcessHet=0.119;FS=150.165;InbreedingCoeff=-0.136;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=-0.327;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:41:99:.:.:110,0,525:.	12	0	2	5
chr16	48139323	48139323	A	G	exonic	ABCC12	.	nonsynonymous SNV	ABCC12:NM_033226:exon5:c.T671C:p.L224P	.	424	1095	2	1	0	4	0.00182315	.	.	.	3988923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.827	0.130568186946	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0003	0.0001488	23	154602	rs141280121	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0	0	0	0.0003	0.0001	0.0002	0.0003	7.226e-05	7.223e-05	5.138e-05	9.411e-05	0.0004	3.97e-05	3.127e-05	7.282e-05	4.239e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0.0004	0.017	0.51248	D	0.028	0.54934	D	0.995	0.67487	D	0.961	0.70482	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.925	0.84406	M	-3.13	0.92829	D	-4.07	0.74661	D	0.965	0.97535	0.829	0.94767	D	0.842	0.94719	D	10	0.9414295	0.93468	D	0.130568	0.81274	D	0.827	0.94503	.	.	0.929145428492	0.92841	0.9638467379710633	0.96371	0.348062468995	0.36684	0.622985363007	0.56150	T	0.464809	0.80021	T	0.202607	0.74135	D	0.373264	0.91189	D	0.621509492397308	0.37268	D	0.70163	0.31127	T	0.8620248	0.88241	0.7987131	0.88189	0.8620248	0.88242	0.7987131	0.88189	-12.283	0.86202	D	.	.	0.924	0.84517	P	.	.	4.271872	0.65006	24.8	0.99881331171530763	0.95733	0.86715	0.46055	D	AEFBI	0.757375	0.69635	D	0.544273913306999	0.69734	5.399212	0.480481985453455	0.66699	4.986006	0.999758210600714	0.42595	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	3.447000	0.52699	9.139000	0.78903	0.756000	0.94297	0.960000	0.33603	1.000000	0.68203	0.342000	0.25479	0.8477:0.1522:0.0:0.0	11.306	0.48570	515	0.74782	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	529.33	34	chr16	48139323	.	A	G	529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.454;DP=676;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.29;SOR=0.88	GT:AD:DP:GQ:PL	0/1:27,23:50:99:543,0,674	18	0	1	0
chr16	48193950	48193950	C	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon18:c.G2437A:p.V813M,ABCC11:NM_001370496:exon19:c.G2443A:p.V815M,ABCC11:NM_001370497:exon19:c.G2437A:p.V813M,ABCC11:NM_032583:exon20:c.G2437A:p.V813M,ABCC11:NM_145186:exon20:c.G2437A:p.V813M	.	.	.	.	.	.	.	.	.	.	.	726651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.0031360421238	0.0002	0.000199681	0.0004	0.0005	0.0035	0.0005	0	4.511e-05	0	0	0.0003558	55	154602	rs140765057	0.0001	0.0001	0.0001	0.0001	0.0021	9.739e-05	9.217e-05	0.0017	0.0016	8.962e-05	0.0021	0	0.0004	0	0.0002	3.778e-05	0.0002	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0012	0	0.0004	9.43e-05	0	1.47e-05	0	0	0.334	0.13971	T	0.373	0.16328	T	0.001	0.07471	B	0.001	0.14941	B	0.140982	0.18291	N	0.590830	1	0.08975	N	-1.3	0.00713	N	0.92	0.44461	T	0.94	0.01529	N	0.09	0.06854	-0.9980	0.30479	T	0.018	0.07423	T	10	0.0065405667	0.00148	T	0.003136	0.06815	T	0.048	0.13305	.	.	0.0762999501168	0.06990	0.3152340306057936	0.31436	0.0912430136936	0.10305	0.302535712719	0.10780	T	0.124811	0.45010	T	-0.615417	0.00117	T	-0.662328	0.08109	T	0.0046877240117631	0.00050	T	0.428457	0.11587	T	0.023472177	0.01090	0.033058286	0.02138	0.023472177	0.01090	0.033058286	0.02138	-2.687	0.07541	T	.	.	0.069	0.05360	B	.;.;.;.	.;.;.;.	-1.106743	0.00632	0.017	0.29809908922685857	0.01599	0.00738	0.03085	N	AEFDBHCI	0.021739	0.01002	N	-1.81815189758781	0.00502	0.02161651	-1.75691737943051	0.00907	0.04058773	0.345374718835351	0.19627	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.24	-3.9	0.03904	-0.477000	0.06663	-1.220000	0.05989	-0.831000	0.02872	0.138000	0.23473	0.000000	0.08366	0.003000	0.05239	0.382:0.1658:0.1311:0.3211	0.528	0.00583	530	0.73653	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, 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	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	732.33	35	chr16	48193950	.	C	T	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.438;DP=765;ExcessHet=0;FS=3.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.7;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,34:76:99:0|1:48193950_C_T:746,0,1651:48193950	18	0	1	0
chr16	50292755	50292755	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon5:c.G617A:p.R206Q,ADCY7:NM_001286057:exon5:c.G617A:p.R206Q	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	7.7e-05	0.00159744	0.0012	0	8.642e-05	0.0145	0	0.0002	0.0011	0.0005	0.0009961	154	154602	rs138459146	0.0005	0.0005	0.0005	0.0006	0.0159	0.0005	0.0005	0.0149	0.0145	0	2.236e-05	0.0013	0.0159	9.395e-05	0.0002	4.317e-05	0.0006	0.0005	0.0006	0.0006	0.0006	0.0006	0.0139	0.0005	0.0004	0.0113	0.0104	0	0	0	0.0017	0.0139	0	0	0.0001	0.0005	0.0004	0.323	0.29823	T	0.256	0.30926	T	0.18	0.34891	B	0.063	0.30031	B	0.621238	0.10775	U	0.744698	0.999999	0.08975	N	2.415	0.69758	M	-2.12	0.86283	D	-1.63	0.44657	N	0.468	0.52475	-0.4052	0.71863	T	0.468	0.79492	T	10	0.00909552	0.00206	T	.	.	.	0.396	0.71084	.	.	0.907239973899	0.90631	0.6430952322392697	0.64244	0.63775699092	0.57515	0.261569321156	0.05080	T	0.522083	0.83305	D	-0.276968	0.10992	T	-0.160234	0.58331	T	0.031863398835171	0.02284	T	0.942406	0.78384	D	0.09160769	0.21470	0.063905105	0.12730	0.09160769	0.21469	0.063905105	0.12729	-5.985	0.46154	T	.	.	0.079	0.09433	B	.;.;.;.	.;.;.;.	2.273978	0.29066	18.00	0.99766705592710192	0.85500	0.52208	0.29077	D	AEFBCI	0.101144	0.20321	N	-0.265638117110179	0.30485	1.700201	-0.274841567705484	0.28930	1.616855	0.995458254128807	0.34136	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.14	1.95	0.25130	1.900000	0.39460	1.358000	0.25859	0.676000	0.76740	0.927000	0.32177	0.013000	0.20296	0.208000	0.22126	0.2326:0.0:0.7674:0.0	11.175	0.47821	768	0.49510	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1600.33	36	chr16	50292755	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.296;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,67:149:99:0|1:50292750_A_G:1614,0,1999:50292750	18	0	1	0
chr16	50712093	50712093	G	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G2101T:p.G701C,NOD2:NM_001370466:exon4:c.G2101T:p.G701C,NOD2:NM_022162:exon4:c.G2182T:p.G728C	Blau syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.145871917976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.000000	0.999946	0.51968	D	3.07	0.87108	M	-0.53	0.70833	T	-2.96	0.61722	D	0.549	0.57518	0.118	0.84496	D	0.547	0.83360	D	10	0.8082664	0.80139	D	0.145872	0.82803	D	0.548	0.81252	0.441	0.49648	0.948057913914	0.94751	0.5068301301310427	0.50605	0.515395677199	0.49451	0.620436489582	0.55791	T	0.279306	0.65198	T	0.307328	0.83543	D	0.203679	0.83330	D	0.988514959812164	0.78836	D	0.858114	0.54842	D	0.3310867	0.55559	0.25685316	0.51392	0.3310867	0.55559	0.25685316	0.51391	-5.918	0.45588	T	0.3690866084605714	0.46479	0.182	0.44784	B	.;.	.;.	4.336001	0.66482	25.0	0.99714562181172195	0.81563	0.93394	0.58100	D	AEFDBHCIJ	0.921293	0.89455	D	0.80578028224949	0.86469	8.89464	0.732714407504283	0.84861	8.411879	0.999999998451313	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	5.817000	0.68907	8.476000	0.77285	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.1676:0.8324:0.0	12.544	0.55538	697	0.58201	.;.	.	.	.	.	.	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	1311.33	43	chr16	50712093	.	G	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=798;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=0.223;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1325,0,918	18	0	1	0
chr16	56831918	56831918	C	T	exonic	NUP93	.	nonsynonymous SNV	NUP93:NM_001242795:exon9:c.C793T:p.R265W,NUP93:NM_001242796:exon9:c.C793T:p.R265W,NUP93:NM_014669:exon11:c.C1162T:p.R388W	Nephrotic syndrome, type 12, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	YES	226849	Nephrotic_syndrome,_type_12|Nephrotic_syndrome|not_provided|NUP93-related_disorder	MONDO:MONDO:0014817,MedGen:C4225166,OMIM:616892,Orphanet:656|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	0.0330278799411	0.0008	0.000998403	0.0008	9.61e-05	0.0003	0	0.0012	0.0010	0.0044	0.0013	0.0007309	113	154602	rs145146218	0.0006	0.0006	0.0005	0.0006	0.0009	0.0005	0.0005	0.0008	0.0007	8.961e-05	0.0004	0.0001	0	0.0004	0.0007	0.0006	0.0005	0.0009	0.0007	0.0007	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0009	0	0	0.0005	0	0	0.0010	0	0.0012	0	0.0015	0.001	0.91255	D	0.002	0.92824	D	0.999	0.77913	D	0.94	0.67560	D	0.000009	0.62929	D	0.112431	1	0.81001	D	2.67	0.78151	M	0.88	0.46028	T	-6.01	0.91395	D	0.969	0.99260	-0.7286	0.59034	T	0.219	0.58137	T	10	0.09350121	0.16552	T	0.033028	0.54691	D	0.399	0.71321	.	.	0.757842185581	0.75564	0.735899073520606	0.73534	1.09122363088	0.77441	0.886928796768	0.94873	D	0.350251	0.71799	T	-0.0787073	0.39923	T	0.108618	0.77481	D	0.172124281525612	0.18723	T	0.991768	0.97410	D	0.5951432	0.72429	0.5236527	0.72479	0.53490263	0.69110	0.5921308	0.76330	-13.559	0.93721	D	0.916384167101772	0.96264	0.908	0.83331	P	.;.;.;.;.	.;.;.;.;.	5.079520	0.84770	28.4	0.99924875324092854	0.98980	0.92058	0.54851	D	AEFDBI	0.704568	0.66024	D	0.518665237521509	0.68193	5.183749	0.4707588207754	0.66061	4.903238	0.958328087768372	0.28356	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.69	0.41483	2.095000	0.41354	2.308000	0.32059	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.4975:0.5025:0.0:0.0	11.622	0.50380	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	37	chr16	56831918	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=744;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.613;SOR=0.5	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1270,0,1246	18	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S,NLRC5:NM_001384959:exon29:c.G3859A:p.G1287S,NLRC5:NM_001384960:exon29:c.G3859A:p.G1287S,NLRC5:NM_001330552:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384951:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384954:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384956:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384965:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384966:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384967:exon30:c.G3946A:p.G1316S,NLRC5:NM_001384968:exon30:c.G3943A:p.G1315S,NLRC5:NM_001384971:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384972:exon30:c.G3709A:p.G1237S,NLRC5:NM_001384950:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384952:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384953:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384955:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384957:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384961:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384962:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384963:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384964:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384969:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384970:exon31:c.G4033A:p.G1345S,NLRC5:NM_032206:exon31:c.G4036A:p.G1346S	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003033	0.000000	0.004076	0.002924	0.000000	0.000000	0.003086	0.003788	0.07895	4185.77	35	chr16	57061497	.	G	A	4185.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.38;ReadPosRankSum=1.14;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3213,309,0	17	1	1	0
chr16	57475866	57475866	A	G	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon2:c.T158C:p.L53P,DOK4:NM_001369621:exon2:c.T158C:p.L53P,DOK4:NM_001369618:exon3:c.T158C:p.L53P,DOK4:NM_001369619:exon3:c.T158C:p.L53P,DOK4:NM_001369620:exon3:c.T158C:p.L53P,DOK4:NM_018110:exon3:c.T158C:p.L53P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.0761505445867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.72154	T	0.012	0.63918	D	0.987	0.61912	D	0.934	0.66904	D	0.000093	0.51296	D	0.079681	1	0.81001	D	1.04	0.26193	L	-0.63	0.72458	T	-2.72	0.79743	D	0.502	0.53972	-0.4199	0.71396	T	0.399	0.75073	T	10	0.76413333	0.78785	D	0.076151	0.72462	D	0.504	0.78600	0.592	0.72123	0.989457058007	0.98933	0.6752440013855864	0.67462	1.22826024577	0.81256	0.805297553539	0.82770	D	0.214489	0.57609	T	0.0885232	0.63023	D	-0.110619	0.62562	T	0.965833723545074	0.67391	D	0.807119	0.47234	T	0.5059399	0.67443	0.581058	0.75716	0.5059399	0.67444	0.581058	0.75717	-4.031	0.24266	T	.	.	0.337	0.59016	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.047655	0.84050	28.2	0.99883842386199495	0.95970	0.94769	0.62266	D	ALL	0.983681	0.99930	D	0.655722696773364	0.76742	6.542481	0.683216943712232	0.81105	7.44957	1.0	0.98316	0.714207	0.82060	0	0.616935	0.53198	0	0.648423	0.49468	0	0.526803	0.08958	0	.	.	5.44	5.44	0.79348	7.456000	0.79796	11.152000	0.87379	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.486	0.60818	624	0.65661	Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;DOK4/5/6, PH domain;DOK4/5/6, PH domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	776.33	33	chr16	57475866	.	A	G	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=707;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.37;SOR=0.443	GT:AD:DP:GQ:PL	0/1:37,33:70:99:790,0,917	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	0/1:24,25:49:99:634,0,600	17	0	2	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	189.21	104	chr16	67228398	.	C	G	189.21	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.185;DP=1274;ExcessHet=0.3672;FS=205.476;InbreedingCoeff=-0.1308;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.49;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,23:100:99:0|1:67228398_C_G:188,0,2352:67228398	13	0	3	3
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	0/1:72,67:139:99:1698,0,1828	17	0	2	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	0/1:123,103:226:99:2533,0,3141	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	0/1:26,29:58:99:.:.:1083,0,968:.	17	0	2	0
chr16	72795121	72795121	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.G4819A:p.A1607T,ZFHX3:NM_006885:exon9:c.G7561A:p.A2521T	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0357544670122	0.0002	.	9.088e-05	0	0	0	0	4.507e-05	0	0.0005	7.76e-05	12	154602	rs140414544	5.883e-05	5.883e-05	6.806e-05	4.95e-05	0.0003	4.876e-05	4.496e-05	0.0001	0.0001	2.987e-05	0	0	2.519e-05	0	0.0003	5.486e-05	3.311e-05	0.0002	5.949e-05	5.92e-05	2.581e-05	9.484e-05	0.0006	3.094e-05	2.222e-05	0.0002	9.104e-05	0	0	0	0.0003	0	0	0	7.361e-05	0	0.0006	0.129	0.28900	T	0.864	0.03371	T	1.0	0.90584	D	0.995	0.83170	D	0.000214	0.47681	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.79	0.73739	T	0.48	0.03639	N	0.488	0.56058	-0.4645	0.69916	T	0.384	0.74024	T	10	0.19941542	0.35949	T	0.035754	0.56553	D	0.287	0.60574	.	.	0.0675242888579	0.06100	0.2991395058947326	0.29826	0.0902169149404	0.10174	0.675239801407	0.63587	T	0.067	0.33087	T	-0.168624	0.25443	T	-0.163837	0.58004	T	0.16489792252502	0.18226	T	0.813919	0.46746	T	0.06766751	0.14674	0.088994496	0.20784	0.06766751	0.14673	0.088994496	0.20783	-4.624	0.32472	T	.	.	0.091	0.13315	B	.;.;.	.;.;.	4.184893	0.63024	24.5	0.91382168091454086	0.20648	0.95236	0.63943	D	AEFDBCI	0.628802	0.61076	D	0.423207056826892	0.62700	4.490365	0.481088321475593	0.66739	4.99129	0.999999999999166	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.587000	0.67204	0.788000	0.21542	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.895000	0.43227	0.0:1.0:0.0:0.0	19.173	0.93576	182	0.92924	.;.;.	.	.	.	.	.	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	1176.33	38	chr16	72795121	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.617;DP=1081;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.077;SOR=0.866	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1190,0,1340	18	0	1	0
chr16	79599342	79599344	GTG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.559_561del:p.H187del,MAF:NM_005360:exon1:c.559_561del:p.H187del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	117	1390	11	1	3	16	0.00465449	.	.	.	363684	MAF-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0336	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1057520061	0.0002	0.0075	0.0002	0.0002	0.0018	0.0002	0.0002	0.0008	0.0006	0.0003	0.0014	0.0002	0.0018	0.0022	0	0.0002	0.0003	0.0003	6.873e-06	0.0001	0	1.415e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140704	0.085366	0.173913	0.054054	0.500000	0.000000	0.256410	0.080000	0.02941	290.56	5	chr16	79599341	.	CGTG	C	290.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.277;DP=133;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.0952;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.28;SOR=0.818	GT:AD:DP:GQ:PL	0/1:13,2:15:45:45,0,537	16	0	1	2
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	0/1:36,37:73:99:901,0,799	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	0/1:39,57:96:99:1551,0,935	16	0	3	0
chr17	747904	747904	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G139A:p.V47M	.	420	1092	10	0	0	10	0.00455789	.	.	.	727420	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0039	0.00199681	0.0028	0.0006	0.0010	0	0.0038	0.0041	0.0022	0.0008	0.002846	440	154602	rs138673289	0.0042	0.0042	0.0043	0.0040	0.0049	0.0041	0.0041	0.0048	0.0048	0.0008	0.0015	0.0001	0	0.0039	0.0040	0.0049	0.0035	0.0011	0.0028	0.0028	0.0031	0.0025	0.0047	0.0026	0.0025	0.0043	0.0042	0.0007	0	0.0018	0	0	0.0036	0.0068	0.0047	0.0028	0.0008	0.123	0.28772	T	0.19	0.69154	T	0.621	0.61118	P	0.12	0.53983	B	0.019607	0.27219	N	0.382752	0.601168	0.30939	N	1.85	0.49092	L	2.05	0.20664	T	-0.46	0.25551	N	0.193	0.43223	-1.0568	0.12569	T	0.048	0.20474	T	10	0.0063922405	0.00145	T	.	.	.	0.081	0.23632	.	.	0.453962894745	0.45019	0.15574697079243463	0.15495	0.51961977799	0.49787	0.428961634636	0.29066	T	0.017632	0.23446	T	-0.41785	0.01766	T	-0.370654	0.36813	T	0.0125486836366248	0.00208	T	0.808019	0.52437	T	0.033640083	0.03624	0.05086733	0.08071	0.031951997	0.03130	0.051007263	0.08121	-4.231	0.27198	T	.	.	0.112	0.33481	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.588435	0.33574	19.38	0.99826930527622715	0.90939	0.81393	0.40806	D	AEFDBCIJ	0.173691	0.30079	N	0.243965025340265	0.53340	3.50341	0.250636408689444	0.52686	3.441755	0.188047764720473	0.17963	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	3.67	0.41236	1.795000	0.38418	3.343000	0.37723	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.330000	0.25202	0.0:0.7381:0.0:0.2619	6.736	0.22599	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1935.33	37	chr17	747904	.	C	T	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=843;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.361;SOR=0.759	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1949,0,1787	18	0	1	0
chr17	2334851	2334851	A	G	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon5:c.T602C:p.I201T	.	434	1086	2	0	0	2	0.000919963	.	.	.	2208773	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00273626010636	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0.0022	0.0002	0.0001035	16	154602	rs150118764	8.074e-05	8.072e-05	6.808e-05	9.353e-05	0.0012	6.869e-05	6.422e-05	0.0006	0.0004	0	8.944e-05	0.0008	0	0	0.0012	5.666e-05	0.0002	0.0002	3.939e-05	3.937e-05	5.14e-05	2.685e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.94e-05	0.0005	0.0002	0.643	0.04957	T	0.581	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.295214	0.14696	N	0.725850	0.998738	0.21949	N	0.46	0.12951	N	2.86	0.10482	T	1.34	0.00900	N	0.212	0.25006	-0.9314	0.43933	T	0.012	0.04653	T	10	0.017601818	0.00377	T	0.002736	0.05637	T	0.041	0.10877	.	.	0.163833314356	0.15978	0.13666773961386516	0.13590	0.125567602171	0.14154	0.327868759632	0.14612	T	0.005806	0.05258	T	-0.470681	0.00842	T	-0.621728	0.11050	T	0.00553029121065587	0.00060	T	0.69713	0.31438	T	0.1937556	0.41098	0.1172473	0.28304	0.1937556	0.41098	0.1172473	0.28303	-0.329	0.00489	T	.	.	0.059	0.03060	B	.;.	.;.	1.049333	0.14305	10.88	0.7491023085814813	0.10873	0.19008	0.20491	N	AEFDGBHCI	0.054594	0.09940	N	-0.908968404889985	0.10631	0.5089658	-0.793451246986074	0.14655	0.7668764	0.999999447756617	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.819298	0.99467	0	0.735409	0.98432	0	.	.	5.4	-1.54	0.08130	0.720000	0.25566	2.576000	0.33390	0.756000	0.94297	0.062000	0.21832	0.999000	0.35428	0.983000	0.59808	0.5484:0.0:0.4516:0.0	11.661	0.50604	685	0.59416	Bms1/Tsr1-type G domain;Bms1/Tsr1-type 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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1206.33	33	chr17	2334851	.	A	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.443;DP=748;ExcessHet=0;FS=2.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.12;SOR=1.091	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1220,0,1033	18	0	1	0
chr17	4044307	4044307	C	G	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon38:c.G6083C:p.G2028A	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	7.7e-05	0.00259585	0.0019	0	0.0006	0	0	0.0004	0.0044	0.0120	0.0016494	255	154602	rs151149603	0.0009	0.0009	0.0006	0.0013	0.0115	0.0009	0.0009	0.0109	0.0107	2.987e-05	0.0004	3.826e-05	0	0	0.0097	0.0002	0.0012	0.0115	0.0006	0.0006	0.0004	0.0008	0.0126	0.0005	0.0005	0.0101	0.0092	2.406e-05	0	0.0001	0	0.0004	0	0.0170	0.0002	0.0009	0.0126	0.241	0.17643	T	0.53	0.10103	T	0.003	0.11197	B	0.004	0.10090	B	0.882106	0.07242	N	1.047910	1	0.08975	N	1.555	0.39373	L	2.11	0.19860	T	-0.68	0.19509	N	0.077	0.05162	-0.9662	0.37974	T	0.029	0.12322	T	10	0.0049475133	0.00106	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.20937891174840828	0.20853	0.162595922452	0.18349	0.240127101541	0.02802	T	0.023865	0.18141	T	-0.595439	0.00155	T	-0.617696	0.11365	T	0.0126270111570545	0.00211	T	0.487551	0.14930	T	0.10358155	0.24484	0.046638146	0.06545	0.10358155	0.24484	0.046638146	0.06544	-3.109	0.11399	T	.	.	0.062	0.01328	B	.	.	-0.290783	0.02658	0.339	0.13689038642372695	0.00278	0.03544	0.08741	N	AEFBI	0.032775	0.03765	N	-1.24596662939559	0.04353	0.196298	-1.2823146615358	0.04669	0.2207916	0.00323453994887199	0.10007	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.32	-0.914	0.09963	-0.132000	0.10446	-2.002000	0.04363	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.4045:0.3546:0.2409	4.273	0.10243	232	0.90957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.011696	0.000000	0.025862	0.003049	0.011364	0.02632	1012.33	92	chr17	4044307	.	C	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.152;DP=1092;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.45;SOR=0.683	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1026,0,1785	18	0	1	0
chr17	4933268	4933268	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C664T:p.P222S	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0485009578493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.235	0.24767	T	.	.	.	.	.	.	0.230192	0.03513	N	1.742300	0.999993	0.08975	N	2.31	0.66127	M	0.42	0.56937	T	-5.64	0.86914	D	0.105	0.13626	-0.9129	0.46492	T	0.165	0.50225	T	10	0.45653173	0.59024	T	0.048501	0.63403	D	0.113	0.31778	0.589	0.71749	0.62732496935	0.62428	0.6257124961093384	0.62504	0.50679954255	0.48873	0.28017616272	0.07516	T	0.805049	0.95068	D	-0.206296	0.19903	T	-0.534106	0.18878	T	0.937188446521759	0.60677	D	0.654634	0.26653	T	0.15179123	0.34488	0.24291757	0.49723	0.15179123	0.34488	0.24291757	0.49722	-5.985	0.46154	T	0.1804534931723624	0.23224	0.297	0.52712	B	.;.	.;.	0.301666	0.06771	3.290	0.99399348407414279	0.62748	0.14329	0.18345	N	AEFDGBCI	0.055024	0.10055	N	-0.511488908570988	0.21708	1.154024	-0.720797590932562	0.16444	0.8698834	0.15762694587224	0.17542	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.81	-2.61	0.05811	0.413000	0.20869	-0.955000	0.06800	0.549000	0.26987	0.292000	0.25252	0.000000	0.08366	0.515000	0.29359	0.3927:0.3681:0.0:0.2392	4.135	0.09634	390	0.83257	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, 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	2589.33	33	chr17	4933268	.	C	T	2589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=1179;ExcessHet=0;FS=3.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.502;SOR=0.501	GT:AD:DP:GQ:PL	0/1:107,99:206:99:2603,0,2895	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4747,416,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4747,416,0:.	1	11	5	2
chr17	5003999	5003999	A	C	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon11:c.A866C:p.Q289P	Spastic ataxia 2, autosomal recessive, Autosomal recessive	419	1095	8	0	0	8	0.00363967	0.8663	0.626	.	413453	not_provided|Spastic_ataxia_2|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.742	0.252099349353	0.0017	0.000599042	0.0012	9.612e-05	0.0003	0	0.0014	0.0019	0.0011	0.0008	0.0010931	169	154602	rs146872023	0.0014	0.0014	0.0014	0.0015	0.0038	0.0014	0.0014	0.0026	0.0022	8.963e-05	0.0003	0.0004	0	0.0006	0.0038	0.0017	0.0012	0.0008	0.0010	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	0.0005	0	0	0.0006	0	0.0020	0.0009	0.0004	0.008	0.58626	D	0.027	0.55341	D	0.968	0.56581	D	0.954	0.69447	D	.	.	.	.	0.999976	0.53665	D	1.935	0.51832	L	-2.4	0.88455	D	-1.96	0.45404	N	0.309	0.34874	0.594	0.91816	D	0.736	0.90966	D	9	0.05489394	0.05915	T	0.252099	0.89158	D	0.742	0.91069	.	.	0.906485554669	0.90554	0.6530642631107064	0.65242	1.02858067895	0.75351	0.691312730312	0.65895	T	0.352681	0.72009	T	-0.120594	0.33026	T	0.0493828	0.73543	D	0.0683233118103087	0.08414	T	0.941606	0.78180	D	0.47949785	0.65870	0.5041443	0.71338	0.47949785	0.65870	0.5041443	0.71338	-3.778	0.20476	T	.	.	0.069	0.02960	B	.	.	4.560608	0.71867	25.7	0.99251680997989944	0.56891	0.99788	0.99470	D	AEFBI	0.958106	0.97769	D	0.673353446299839	0.77888	6.762032	0.692715948714318	0.81826	7.618182	0.999837813979633	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.026000	0.56942	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	14.148	0.64899	576	0.70006	Kinesin motor domain|Kinesin motor domain|Kinesin 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1267.33	42	chr17	5003999	.	A	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=770;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.889;SOR=0.612	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1281,0,1418	18	0	1	0
chr17	7830345	7830345	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon78:c.C11899T:p.P3967S	.	425	1082	15	0	0	15	0.00688389	.	.	.	704403	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00205329172863	0.0021	0.00119808	0.0028	0.0003	0.0015	0	0	0.0044	0.0022	0.0010	0.0025161	389	154602	rs149406306	0.0024	0.0024	0.0023	0.0025	0.0160	0.0024	0.0023	0.0133	0.0123	0.0005	0.0021	0.0236	2.519e-05	0.0001	0.0160	0.0022	0.0040	0.0008	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0006	0	0.0048	0.0260	0.0002	0	0.0034	0.0023	0.0033	0.0010	0.627	0.05198	T	0.659	0.06533	T	0.0	0.02946	B	0.004	0.10090	B	0.658470	0.05965	N	1.159560	1	0.08975	N	0.895	0.22405	L	3.11	0.08194	T	-0.04	0.07590	N	0.104	0.08786	-0.9354	0.43333	T	0.008	0.02801	T	10	0.004812062	0.00102	T	0.002053	0.03748	T	0.035	0.08770	.	.	0.124217242631	0.12060	0.1587861830143489	0.15799	0.274421442702	0.29933	0.300274163485	0.10441	T	0.015995	0.13307	T	-0.618727	0.00112	T	-0.665526	0.07898	T	0.00263562579694422	0.00027	T	0.693931	0.30359	T	0.06966676	0.15284	0.07255256	0.15666	0.06966676	0.15283	0.07255256	0.15666	-4.262	0.27641	T	.	.	0.063	0.01387	B	.;.;.	.;.;.	-0.027235	0.04097	0.964	0.38510695887481283	0.02602	0.06659	0.12677	N	AEFBI	0.054567	0.09932	N	-0.998363504325872	0.08639	0.405821	-0.984771868095073	0.10126	0.5080766	0.035612651969851	0.14208	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.55	-2.96	0.05212	-0.699000	0.05188	-1.498000	0.05304	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.1004:0.4046:0.2067:0.2883	2.580	0.04523	290	0.88477	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain 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	0.013595	0.000000	0.014946	0.040936	0.100000	0.008621	0.000000	0.011364	0.02632	1156.33	33	chr17	7830345	.	C	T	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.344;SOR=0.783	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1170,0,825	18	0	1	0
chr17	8012211	8012211	G	A	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon9:c.G1817A:p.G606D	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	846435	Leber_congenital_amaurosis_1|Cone-rod_dystrophy_6	MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.0728892766448	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451847992	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.492	0.11479	T	0.863	0.47474	P	0.602	0.50862	P	0.292352	0.14745	N	0.615343	1	0.08975	N	1.89	0.50145	L	-1.63	0.82440	D	-1.23	0.31170	N	0.346	0.38746	-0.3300	0.74133	T	0.508	0.81469	D	10	0.43027937	0.57445	T	0.072889	0.71649	D	0.341	0.66297	0.481	0.56142	0.899498882341	0.89850	0.6493262259739172	0.64868	0.564402369025	0.52825	0.315518379211	0.12742	T	0.200132	0.55761	T	-0.0635184	0.42357	T	-0.246151	0.50197	T	0.384451121091843	0.28353	T	0.446155	0.12501	T	0.12055998	0.28366	0.17486504	0.39912	0.12055998	0.28365	0.17486504	0.39911	-6.018	0.46431	T	.	.	0.089	0.12181	B	.	.	2.241256	0.28623	17.86	0.95418905311368007	0.26894	0.72214	0.35354	D	AEFDBI	0.415415	0.48428	N	-0.0606055550535999	0.39129	2.302646	-0.150807532677231	0.33378	1.908636	0.999937956630876	0.46732	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.826000	0.47805	4.850000	0.45366	0.676000	0.76740	0.037000	0.20830	0.961000	0.29326	0.038000	0.14061	0.0:0.0:1.0:0.0	16.444	0.83751	658	0.62094	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase 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	1656.33	34	chr17	8012211	.	G	A	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=773;ExcessHet=0;FS=6.292;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.479;SOR=0.907	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1670,0,1971	18	0	1	0
chr17	8253978	8253978	A	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon2:c.A41T:p.H14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0127082263606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217618336	6.841e-07	6.841e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.04832	T	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.000091	0.51296	D	0.173882	0.934431	0.81001	D	1.725	0.44537	L	1.33	0.35031	T	0.37	0.03639	N	0.679	0.68603	-1.0806	0.07233	T	0.070	0.28609	T	10	0.15169638	0.28669	T	0.012708	0.31519	T	0.287	0.60574	0.325	0.30711	0.731822560003	0.72943	0.5112893701137099	0.51050	0.280962310309	0.30564	0.491495013237	0.37645	T	0.004119	0.24475	T	-0.0556336	0.43588	T	-0.234825	0.51303	T	0.0707808019031172	0.08760	T	0.755524	0.37862	T	0.048120975	0.08337	0.04632627	0.06431	0.048120975	0.08336	0.04632627	0.06431	-1.172	0.01212	T	.	.	0.184	0.39932	B	.;.;.;.;.	.;.;.;.;.	2.109655	0.26843	17.26	0.89693887715099574	0.19018	0.83258	0.42390	D	ALL	0.372952	0.45841	N	-0.335597505391465	0.27804	1.528487	-0.158413030838764	0.33086	1.888946	0.980285991110991	0.30119	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636	0.56748	0	.	.	5.49	4.41	0.52588	2.445000	0.44558	6.823000	0.56675	-0.056000	0.16711	0.983000	0.35670	1.000000	0.68203	0.921000	0.45669	0.8437:0.1563:0.0:0.0	11.01	0.46872	481	0.77356	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3031.33	36	chr17	8253978	.	A	T	3031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=882;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.228;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,119:242:99:0|1:8253978_A_T:3045,0,2911:8253978	18	0	1	0
chr17	8829713	8829713	C	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon10:c.G882T:p.E294D,PIK3R6:NM_001290211:exon10:c.G474T:p.E158D	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129795182418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.10465	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.25745	.	.	.	.	.	.	.	0.04844582	0.04297	T	0.01298	0.32017	T	.	.	.	.	0.536287059136	0.53279	0.1587247091165047	0.15793	.	.	0.566030621529	0.48117	T	0.002785	0.02176	T	-0.112268	0.34394	T	-0.399041	0.33495	T	.	.	.	0.657934	0.26722	T	0.055346467	0.10742	0.106504545	0.25625	0.055346467	0.10742	0.106504545	0.25624	-4.56	0.31665	T	.	.	0.111	0.24700	B	.;.	.;.	0.606388	0.09749	6.516	0.84560987710574265	0.15364	0.54943	0.29740	D	AEFDGBHCI	0.177187	0.30441	N	.	.	.	.	.	.	0.995948116205777	0.34425	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.041896	0.00087	0	.	.	4.73	-2.48	0.06052	-0.868000	0.04345	-1.141000	0.06209	0.599000	0.40250	0.179000	0.24051	0.001000	0.17328	0.955000	0.50612	0.1117:0.2981:0.2197:0.3705	1.717	0.02729	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1701.33	37	chr17	8829713	.	C	A	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.856;DP=783;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.121;SOR=0.507	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1715,0,1522	18	0	1	0
chr17	9857511	9857511	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon6:c.G700A:p.V234I	.	427	1072	21	2	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0047	0.00419329	0.0080	0.0004	0.0010	0	0.0187	0.0071	0.0088	0.0210	0.0072121	1115	154602	rs61730822	0.0053	0.0053	0.0047	0.0060	0.0205	0.0052	0.0052	0.0197	0.0194	0.0005	0.0011	0.0064	5.038e-05	0.0172	0.0057	0.0041	0.0039	0.0205	0.0051	0.0051	0.0045	0.0057	0.0193	0.0048	0.0047	0.0161	0.0149	0.0006	0	0.0012	0.0037	0.0002	0.0175	0	0.0064	0.0033	0.0193	0.371	0.11514	T	0.56	0.22627	T	0.028	0.19712	B	0.021	0.19346	B	0.190017	0.16872	N	0.434889	1	0.08975	N	0.61	0.15665	N	1.15	0.45248	T	0.27	0.04306	N	0.063	0.05670	-1.0347	0.18951	T	0.039	0.16763	T	10	0.0036627948	0.00067	T	.	.	.	0.060	0.17295	.	.	0.476364732183	0.47263	0.0847454450444423	0.08408	0.238286903455	0.26374	0.291410237551	0.09127	T	0.040885	0.25675	T	-0.644047	0.00079	T	-0.681649	0.06884	T	0.000678992996314219	0.00006	T	0.686031	0.51512	T	0.022864567	0.00981	0.034941487	0.02653	0.022864567	0.00981	0.034941487	0.02653	-5.195	0.38891	T	.	.	0.070	0.06710	B	.;.;.	.;.;.	0.655718	0.10239	6.978	0.86854329371311922	0.16818	0.04631	0.10296	N	AEFGBI	0.068523	0.13520	N	-0.847650686937809	0.12108	0.588198	-0.814886138503196	0.14135	0.7370068	5.87251080179806E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	0.641	0.16930	-0.097000	0.11010	0.155000	0.15338	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2648:0.0:0.7352:0.0	11.531	0.49862	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.004076	0.014620	0.000000	0.008621	0.015244	0.018939	0.05263	4276.83	35	chr17	9857511	.	G	A	4276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=939;ExcessHet=0.119;FS=0.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.475;SOR=0.731	GT:AD:DP:GQ:PL	0/1:64,105:169:99:2519,0,1301	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	0/1:37,25:62:99:693,0,917	17	0	2	0
chr17	21703942	21703942	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C1156T:p.R386C	.	344	1170	7	1	0	9	0.00383142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252021107	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0014	0.0011	5.982e-05	0.0002	0.0013	2.519e-05	0	0.0024	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0.0006	0	0	0	0.0004	0	0.0002	0.074	0.34621	T	0.123	0.35582	T	.	.	.	.	.	.	0.000005	0.62929	D	0.109557	0.999996	0.58761	D	.	.	.	-2.33	0.87910	D	-0.86	0.23372	N	0.29	0.32812	0.259	0.86893	D	0.657	0.88069	D	10	0.14450231	0.27421	T	0.109778	0.78688	D	.	.	.	.	0.370240404367	0.36630	0.46544014305570935	0.46463	.	.	0.715028762817	0.69321	T	0.008756	0.08018	T	0.193421	0.73278	D	0.0400596	0.72932	D	0.178382813930511	0.19133	T	0.829717	0.49530	T	0.0729738	0.16274	0.0727587	0.15734	0.0729738	0.16274	0.0727587	0.15734	-4.428	0.29934	T	.	.	0.183	0.39731	B	.	.	4.057799	0.60201	24.2	0.99885054089873804	0.96049	0.93304	0.57859	D	AEFDGBI	.	.	.	0.363552207583706	0.59459	4.125452	0.350061207184366	0.58509	4.022021	0.999999999954366	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	5.66	4.69	0.58546	2.065000	0.41068	2.719000	0.34297	0.115000	0.17631	1.000000	0.71638	0.941000	0.28781	0.120000	0.19168	0.1335:0.8664:0.0:0.0	16.227	0.82122	840	0.37365	.	.	.	.	.	.	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	2503.33	37	chr17	21703942	.	C	T	2503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=993;ExcessHet=0;FS=4.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=0.452;QD=13.83;ReadPosRankSum=0.118;SOR=0.437	GT:AD:DP:GQ:PL	0/1:86,95:181:99:2517,0,2116	18	0	1	0
chr17	36430574	36430574	C	G	exonic	TBC1D3F	.	nonsynonymous SNV	TBC1D3F:NM_032258:exon13:c.G985C:p.V329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00221399209832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188067764	0.0001	0.0001	0.0001	0.0001	0.0006	9.831e-05	9.289e-05	0.0004	0.0004	0.0003	0	0	0	0	0	0.0001	2.097e-05	0.0006	6.295e-05	0.0001	5.853e-05	6.809e-05	9.305e-05	2.069e-05	1.289e-05	3.169e-05	1.86e-05	0	0	0	0	0	0	0	9.305e-05	0	0	.	.	.	0.567	0.08900	T	.	.	.	.	.	.	0.869056	0.07164	U	1.099510	1	0.19072	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0135	0.25816	T	0.025	0.10910	T	8	0.048657537	0.04346	T	0.002214	0.04178	T	.	.	0.377	0.39156	0.043077524339	0.03247	0.02904107357001647	0.02853	.	.	.	.	.	.	.	.	-0.20497	0.20091	T	-0.532202	0.19068	T	0.041886929422617	0.04033	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27968	B	.	.	-0.503938	0.01855	0.149	0.21163560765233003	0.00794	0.01022	0.03842	N	AEFI	0.060718	0.11559	N	-1.91291400560523	0.00323	0.01387097	-1.983644017712	0.00331	0.01463814	8.09052537802164E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.145000	0.10248	-1.322000	0.05720	-1.178000	0.01389	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	768.11	33	chr17	36430574	.	C	G	768.11	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.24;DP=515;ExcessHet=0;FS=4.723;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=30.26;MQRankSum=-1.361;QD=10.52;ReadPosRankSum=-0.017;SOR=0.333	GT:AD:DP:GQ:PL	0/1:38,35:73:99:780,0,771	14	0	1	4
chr17	36515959	36515959	T	C	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_001033580:exon7:c.A446G:p.Y149C,MYO19:NM_001163735:exon7:c.A446G:p.Y149C,MYO19:NM_025109:exon7:c.A446G:p.Y149C	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.0509370994793	0.0019	0.000399361	0.0014	0.0002	0.0005	0	0	0.0021	0	0.0014	0.0013195	204	154602	rs187710120	0.0016	0.0016	0.0016	0.0017	0.0016	0.0016	0.0015	0.0016	0.0015	0.0004	0.0004	0.0102	0	0.0001	0.0016	0.0016	0.0018	0.0012	0.0012	0.0012	0.0013	0.0010	0.0016	0.0010	0.0010	0.0013	0.0012	0.0003	0	0.0005	0.0124	0	0	0	0.0016	0.0024	0.0010	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.995	0.86255	D	0.001623	0.38439	N	0.000000	1	0.81001	D	2.385	0.68708	M	.	.	.	.	.	.	0.87	0.88577	0.745	0.93731	D	0.790	0.92892	D	10	0.022100568	0.00543	T	0.050937	0.64450	D	.	.	.	.	0.528009843598	0.52448	0.7749957426846956	0.77449	.	.	0.65917468071	0.61291	T	0.465155	0.91238	T	0.130761	0.67435	D	0.379675	0.91421	D	0.0440335813380743	0.04426	T	.	.	.	0.46823198	0.65182	0.53241986	0.72982	0.46823198	0.65182	0.53241986	0.72982	-10.232	0.77772	D	.	.	0.162	0.54213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.709060	0.75631	26.4	0.99834498412076167	0.91542	0.94136	0.60221	D	AEFBCI	0.783552	0.71451	D	0.748864963338406	0.82829	7.860827	0.721814347666258	0.84037	8.18123	0.999697548608659	0.41870	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	5.749000	0.68341	6.234000	0.55243	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.823	0.69720	578	0.69858	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XIX myosin, motor domain;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;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	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	749.33	35	chr17	36515959	.	T	C	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=723;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.22;SOR=0.892	GT:AD:DP:GQ:PL	0/1:34,33:67:99:763,0,829	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	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	0/1:50,54:104:99:554,0,543	1	0	18	0
chr17	37619826	37619826	T	A	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon13:c.A1591T:p.I531L,DDX52:NM_001291476:exon14:c.A1267T:p.I423L	.	433	1076	13	0	0	13	0.00600462	.	.	.	3239966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0135497970259	0.0002	0.000599042	0.0007	0.0002	0.0002	0	0.0012	0.0009	0.0011	0.0012	0.0007503	116	154602	rs199573535	0.0010	0.0010	0.0009	0.0010	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0004	0	5.041e-05	0.0007	0.0017	0.0010	0.0010	0.0011	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0003	0	0.0002	0.0012	0	0.0011	0.0005	0.0004	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999923	0.51308	D	.	.	.	.	.	.	.	.	.	0.608	0.62526	-1.0349	0.18888	T	0.015	0.05849	T	10	0.068556994	0.09712	T	0.01355	0.33038	T	.	.	0.564	0.68499	0.512825096792	0.50922	0.7360196389273322	0.73546	.	.	0.804432868958	0.82639	D	.	.	.	-0.321254	0.06795	T	-0.240093	0.50790	T	0.0292296690857187	0.01873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43626	B	.	.	3.363315	0.46445	22.3	0.97269196317037288	0.33126	0.99044	0.90407	D	AEFGBI	0.744499	0.68747	D	-0.300784830345247	0.29119	1.612001	-0.0933666593019347	0.35664	2.065987	0.999318484597024	0.39113	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	6.843000	0.75179	7.895000	0.73253	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.899	0.63293	49	0.97662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	2257.83	41	chr17	37619826	.	T	A	2257.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.6;DP=782;ExcessHet=0.119;FS=2.737;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.592;SOR=0.872	GT:AD:DP:GQ:PL	0/1:35,37:72:99:970,0,766	17	0	2	0
chr17	39905474	39905474	A	C	exonic	GSDMB	.	nonsynonymous SNV	GSDMB:NM_018530:exon7:c.T984G:p.F328L,GSDMB:NM_001369402:exon8:c.T1011G:p.F337L,GSDMB:NM_001042471:exon9:c.T1011G:p.F337L,GSDMB:NM_001165959:exon9:c.T1023G:p.F341L,GSDMB:NM_001165958:exon10:c.T1050G:p.F350L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0013730511954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.433940	0.12713	N	0.629622	1	0.08975	N	.	.	.	3.03	0.08898	T	1.83	0.00495	N	0.141	0.15328	-1.0381	0.17893	T	0.025	0.10509	T	10	0.06995216	0.10109	T	0.001373	0.01986	T	0.121	0.33580	.	.	0.0401082797425	0.02173	0.05261678160844195	0.05203	0.145359959787	0.16423	0.302919864655	0.10838	T	.	.	.	-0.347924	0.04858	T	-0.737545	0.03995	T	0.0407571946443665	0.03827	T	0.388161	0.09588	T	.	.	.	.	.	.	.	.	-1.182	0.01374	T	.	.	0.252	0.50718	B	.;.;.;.;.;.	.;.;.;.;.;.	0.237829	0.06184	2.633	0.13156033267158806	0.00250	0.10326	0.15864	N	AEFDBHCI	0.069309	0.13712	N	-0.636660078990554	0.17850	0.922083	-0.663770998159214	0.17870	0.9521002	0.999569444445271	0.40425	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.86	3.86	0.43689	0.706000	0.25365	1.576000	0.27446	0.681000	0.82415	0.001000	0.13787	0.001000	0.17328	0.074000	0.16894	1.0:0.0:0.0:0.0	9.337	0.37220	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	.	.	.	.	.	.	.	.	0.02632	632.33	34	chr17	39905474	.	A	C	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=697;ExcessHet=0;FS=2.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.996;SOR=0.854	GT:AD:DP:GQ:PL	0/1:42,27:69:99:646,0,1007	18	0	1	0
chr17	39906137	39906137	C	T	exonic	GSDMB	.	nonsynonymous SNV	GSDMB:NM_018530:exon5:c.G796A:p.D266N,GSDMB:NM_001369402:exon6:c.G823A:p.D275N,GSDMB:NM_001042471:exon7:c.G823A:p.D275N,GSDMB:NM_001165959:exon7:c.G835A:p.D279N,GSDMB:NM_001165958:exon8:c.G862A:p.D288N	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0055	0.00319489	0.0069	0.0010	0.0015	0.0001	0.0159	0.0098	0.0066	0.0022	0.0069081	1068	154602	rs35266519	0.0076	0.0076	0.0077	0.0074	0.0085	0.0075	0.0074	0.0083	0.0083	0.0012	0.0021	0.0007	2.519e-05	0.0168	0.0009	0.0085	0.0066	0.0025	0.0063	0.0063	0.0061	0.0065	0.0094	0.0059	0.0058	0.0088	0.0086	0.0010	0	0.0029	0.0012	0	0.0186	0.0034	0.0094	0.0038	0.0033	0.127	0.31088	T	0.069	0.44501	T	0.002	0.09854	B	0.001	0.04355	B	0.497932	0.05074	N	1.309570	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.23	0.10656	N	0.201	0.25622	-0.9982	0.30423	T	0.020	0.08220	T	10	0.0032514334	0.00055	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.09307920688646468	0.09239	0.128528489135	0.14489	0.278110444546	0.07230	T	.	.	.	-0.677623	0.00050	T	-0.731855	0.04244	T	0.00319887027044854	0.00034	T	0.539146	0.18203	T	.	.	.	.	.	.	.	.	-4.648	0.32904	T	.	.	0.085	0.10208	B	.;.;.;.;.;.	.;.;.;.;.;.	0.547178	0.09157	5.940	0.98398330805385714	0.41042	0.04330	0.09889	N	AEFBI	0.071684	0.14279	N	-1.00790166525708	0.08439	0.3956853	-0.986449732602389	0.10089	0.5059653	0.244626113417056	0.18611	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	4.54	2.47	0.29113	0.552000	0.23083	-0.431000	0.09221	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7014:0.1941:0.1045	5.991	0.18695	616	0.66398	.;.;.;.;.;.	.	.	.	.	rs35266519	Uncertain significance	0	0	0	0	0	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	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2129.33	34	chr17	39906137	.	C	T	2129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=896;ExcessHet=0;FS=5.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.139;SOR=0.395	GT:AD:DP:GQ:PL	0/1:97,73:170:99:2143,0,2535	18	0	1	0
chr17	41819332	41819332	G	A	exonic	FKBP10	.	nonsynonymous SNV	FKBP10:NM_021939:exon5:c.G850A:p.G284R	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	0	1490	30	2	0	34	0.0112807	.	.	.	610082	not_provided|not_specified|Osteogenesis_imperfecta_type_11|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.0667847351271	0.0002	0.000798722	0.0005	0	0.0004	0	0	0.0002	0.0011	0.0025	0.0004463	69	154602	rs372214186	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0.0005	0	5.038e-05	0	0.0026	0.0001	0.0005	0.0025	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0007	0.0003	0	0	0	0.0003	0.0019	0.0023	0.706	0.04094	T	0.815	0.03886	T	0.134	0.27266	B	0.041	0.23986	B	0.988842	0.08044	N	0.993762	1	0.24432	N	-0.835	0.01514	N	-1.96	0.85091	D	0.21	0.04776	N	0.202	0.22357	-0.8824	0.49569	T	0.270	0.64162	T	10	0.0053589344	0.00118	T	0.066785	0.69976	D	0.183	0.45592	0.516	0.61611	0.550842731861	0.54741	0.5796122781772097	0.57890	0.321619576993	0.34361	0.319252252579	0.13307	T	0.018246	0.14740	T	-0.336701	0.05620	T	-0.261661	0.48658	T	0.0166111615422761	0.00421	T	0.50065	0.15660	T	0.048808962	0.08566	0.09702783	0.23077	0.048808962	0.08565	0.09702783	0.23077	-0.977	0.00974	T	0.10505358080590027	0.08286	0.062	0.01215	B	.	.	1.482181	0.19077	14.08	0.95068555199797211	0.26106	0.27637	0.23333	N	AEFDBHCI	0.263984	0.38141	N	-0.991755550792229	0.08779	0.4129378	-0.93156157991318	0.11352	0.5777521	0.999987119437034	0.51787	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.714379	0.83352	0	.	.	5.55	1.15	0.19876	1.939000	0.39841	0.446000	0.18474	0.676000	0.76740	0.198000	0.24285	0.000000	0.08366	0.173000	0.21076	0.3045:0.0:0.6955:0.0	9.345	0.37265	549	0.72275	FKBP-type peptidyl-prolyl cis-trans isomerase 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	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.011364	0.02632	768.33	33	chr17	41819332	.	G	A	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=678;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.481;SOR=0.544	GT:AD:DP:GQ:PL	0/1:29,26:55:99:782,0,737	18	0	1	0
chr17	45149566	45149566	G	A	exonic	HEXIM1	.	nonsynonymous SNV	HEXIM1:NM_006460:exon1:c.G376A:p.E126K	.	366	1154	2	0	0	2	0.000865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0153761871617	.	.	3.374e-05	0	0	0	0	4.103e-05	0	6.676e-05	1.94e-05	3	154602	rs776691576	1.923e-05	2.052e-05	2.322e-05	1.519e-05	0.0005	1.333e-05	1.148e-05	0.0001	7.55e-05	0	0	0	0	0	0.0005	1.802e-05	4.985e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.85	0.03507	T	0.876	0.48154	P	0.228	0.38116	B	0.100699	0.19874	U	0.385573	1	0.08975	N	1.79	0.46772	L	.	.	.	0.12	0.05604	N	0.139	0.13769	-1.0527	0.13655	T	0.053	0.22423	T	9	0.19798374	0.35751	T	0.015376	0.36078	T	0.085	0.24743	0.135	0.03920	0.158540857583	0.15491	0.10743004321378156	0.10672	1.01481861233	0.74903	0.677136540413	0.63858	T	0.11719	0.43709	T	-0.175921	0.24344	T	-0.389845	0.34570	T	0.749129712581635	0.43237	D	0.671533	0.28021	T	0.16911177	0.37408	0.18868624	0.42173	0.16911177	0.37407	0.18868624	0.42172	-5.425	0.41159	T	0.15054244755661306	0.17691	0.075	0.05447	B	.	.	3.433908	0.47740	22.5	0.99646220830566012	0.77005	0.39847	0.26304	N	ALL	0.344860	0.44021	N	0.0133955576113463	0.42462	2.559028	0.0778587880866146	0.43437	2.645473	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.09	4.09	0.47038	5.122000	0.64536	6.320000	0.55443	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	11.660	0.50602	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1334.33	106	chr17	45149566	.	G	A	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=1508;ExcessHet=0;FS=4.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.212;SOR=0.999	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1348,0,1856	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	0/1:18,16:34:99:388,0,445	17	0	2	0
chr17	50097448	50097448	-	GGGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGGG:p.S49Gfs*19,PDK2:NM_002611:exon2:c.144_145insGGGGG:p.S49Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	377.15	33	chr17	50097448	.	C	CGGGGG	377.15	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.607;DP=2043;ExcessHet=0.119;FS=71.956;InbreedingCoeff=-0.1692;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.76;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,20:189:99:.:.:298,0,6762:.	11	0	1	7
chr17	50483483	50483483	G	T	exonic	RSAD1	.	stopgain	RSAD1:NM_018346:exon6:c.G1048T:p.E350X	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.119922	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.217	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.238718	0.99651	46	0.99697279870383804	0.80385	0.97177	0.73143	D	AEFDBCI	0.322729	0.42514	N	1.12346570075575	0.98545	18.59007	0.946635540588693	0.97302	15.90435	0.999999999998195	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.19	5.19	0.71428	8.813000	0.91586	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	18.656	0.91411	897	0.25382	HemN, C-terminal|Radical SAM	.	.	.	.	.	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	1029.33	34	chr17	50483483	.	G	T	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.268;DP=692;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.071;SOR=0.818	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1043,0,655	18	0	1	0
chr17	56814960	56814960	G	A	exonic	C17orf67	.	nonsynonymous SNV	C17orf67:NM_001085430:exon6:c.C65T:p.P22L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0304009924332	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs143175206	6.636e-05	6.704e-05	6.262e-05	7.014e-05	0.0005	5.562e-05	5.153e-05	0.0002	0.0002	0	0.0004	0.0007	2.519e-05	0	0.0005	3.238e-05	9.936e-05	0.0002	8.546e-05	8.539e-05	6.428e-05	0.0001	0.0005	4.96e-05	3.965e-05	0.0002	0.0002	2.415e-05	0	0.0005	0	0	0	0	7.35e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000118	0.50451	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.754	0.75283	-0.4224	0.71313	T	0.296	0.66735	T	9	0.4355885	0.57771	T	0.030401	0.52717	D	0.334	0.65620	.	.	0.168933306366	0.16529	0.5463462925469537	0.54560	0.199274834654	0.22328	.	.	.	.	.	.	0.134227	0.67772	D	0.271188	0.86637	D	0.682746231555939	0.39913	D	0.868713	0.57175	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.50213	B	.	.	3.584601	0.50547	23.0	0.99840480129251952	0.92057	0.95409	0.64607	D	AEFDBI	0.442568	0.50024	N	0.382708134763813	0.60485	4.237908	0.34971791119844	0.58490	4.019836	0.999859867555432	0.44174	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	4.7	4.7	0.58776	4.783000	0.62096	3.325000	0.37578	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0:0.0:1.0:0.0	17.986	0.89078	30	0.98208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1595.33	39	chr17	56814960	.	G	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=880;ExcessHet=0;FS=1.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=2.07;SOR=0.562	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1609,0,1847	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	0/1:40,24:64:60:60,0,444	8	0	11	0
chr17	63972389	63972389	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.G355A:p.V119I	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	1512	10	0	0	10	0.00329598	.	.	.	345424	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Paramyotonia_congenita_of_Von_Eulenburg|Familial_hyperkalemic_periodic_paralysis|Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_1|not_specified|not_provided	MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.229	0.0147987355601	0.0030	0.00119808	0.0026	0.0003	0.0003	0.0001	0.0015	0.0041	0	0.0015	0.0025938	401	154602	rs41280110	0.0029	0.0029	0.0030	0.0029	0.0034	0.0029	0.0028	0.0033	0.0033	0.0005	0.0008	0.0002	2.519e-05	0.0020	0.0021	0.0034	0.0028	0.0018	0.0023	0.0023	0.0023	0.0023	0.0038	0.0021	0.0020	0.0034	0.0033	0.0006	0.0033	0.0019	0.0003	0	0.0017	0.0034	0.0038	0.0005	0.0014	0.367	0.11659	T	0.105	0.38016	T	0.0	0.02946	B	0.001	0.04355	B	0.387199	0.04456	N	1.351180	1	0.08975	N	-1.245	0.00777	N	-3.85	0.95859	D	-0.28	0.11547	N	0.106	0.09066	-0.3603	0.73254	T	0.501	0.81130	D	10	0.013251126	0.00282	T	0.014799	0.35150	T	0.229	0.52916	.	.	0.489036454283	0.48535	0.35322824583488865	0.35236	0.203998506954	0.22813	0.238887071609	0.02691	T	0.292034	0.66476	T	-0.480313	0.00736	T	-0.462447	0.26333	T	0.000779120454168625	0.00007	T	0.712529	0.32403	T	0.048998214	0.08630	0.029725162	0.01343	0.042309113	0.06394	0.0311093	0.01654	-3.925	0.22677	T	0.04421176843988806	0.00522	0.062	0.01348	B	.	.	-1.298632	0.00439	0.009	0.89363671462215311	0.18733	0.05778	0.11711	N	AEFGBCI	0.053774	0.09720	N	-1.78519706803549	0.00582	0.02508743	-1.71619705794329	0.01068	0.04792572	0.966881692333934	0.28936	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	-0.98	0.09747	-0.095000	0.11043	-9.184000	0.00855	-1.986000	0.00458	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1273:0.1785:0.4109:0.2833	2.028	0.03309	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.011364	0.05263	5595.83	42	chr17	63972389	.	C	T	5595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.19;DP=1048;ExcessHet=0.119;FS=2.858;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.529;SOR=0.848	GT:AD:DP:GQ:PL	0/1:78,84:162:99:2499,0,1928	17	0	2	0
chr17	67109247	67109247	T	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4361C:p.Q1454P,HELZ:NM_014877:exon29:c.A4358C:p.Q1453P	.	432	1070	19	1	0	21	0.00971772	.	.	.	3547075	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.141	0.0533471789961	0.0022	0.000798722	0.0031	0.0004	0.0048	0	0	0.0044	0.0044	0.0008	0.0028331	438	154602	rs200486206	0.0023	0.0023	0.0023	0.0024	0.0286	0.0023	0.0022	0.0251	0.0237	0.0014	0.0047	0.0456	0	0	0.0286	0.0012	0.0063	0.0011	0.0029	0.0029	0.0028	0.0030	0.0063	0.0027	0.0026	0.0053	0.0049	0.0004	0	0.0063	0.0452	0	0	0.0136	0.0020	0.0133	0.0006	0.403	0.10378	T	0.16	0.31427	T	0.0	0.02946	B	0.0	0.01387	B	0.125400	0.18844	N	0.586313	0.939514	0.26833	N	0.55	0.14455	N	-1.65	0.82625	D	0.15	0.05310	N	0.258	0.29774	-0.8856	0.49307	T	0.185	0.53436	T	10	0.003847301	0.00073	T	0.053347	0.65431	D	0.141	0.37795	.	.	0.182106788282	0.17826	0.12000937366773848	0.11927	0.199647858005	0.22366	0.377299427986	0.21872	T	0.046825	0.27539	T	-0.373561	0.03418	T	-0.307037	0.43977	T	0.00676942539424807	0.00076	T	0.725927	0.34027	T	0.043905076	0.06924	0.08426442	0.19370	0.06797795	0.14768	0.100794375	0.24111	-2.667	0.07030	T	.	.	0.066	0.08899	B	.;.	.;.	1.652874	0.21087	15.04	0.91971265482899434	0.21301	0.75661	0.37057	D	AEFDGBIJ	0.162986	0.28922	N	-0.518538489684839	0.21480	1.140282	-0.322269548668815	0.27380	1.518927	0.999995072417583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	2.9	0.32809	0.722000	0.25595	0.161000	0.15406	0.568000	0.28809	0.999000	0.42656	0.939000	0.28734	0.997000	0.79791	0.1339:0.0:0.2792:0.5868	7.480	0.26567	550	0.72197	.;.	.	.	.	.	.	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	0.027190	0.040404	0.047554	0.032164	0.000000	0.034483	0.003049	0.000000	0.02632	1067.33	42	chr17	67109247	.	T	G	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=719;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.712;SOR=0.888	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1081,0,1052	18	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP,BPTF:NM_004459:exon26:c.7977_7978insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2667_P2668insAPPAPPAPP	.	428	734	271	57	32	417	0.207771	.	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	8869.61	46	chr17	67959642	.	T	TCCTCCAGCCCCTCCAGCCCCTCCAGCC	8869.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.371;DP=1100;ExcessHet=0.1504;FS=0.522;InbreedingCoeff=0.2083;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.32;ReadPosRankSum=-0.806;SOR=0.765	GT:AD:DP:GQ:PL	0/1:43,34:77:99:1281,0,1680	18	0	1	0
chr17	68273927	68273927	C	T	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon3:c.G376A:p.G126S,SLC16A6:NM_001174166:exon4:c.G376A:p.G126S	.	425	1096	1	0	0	1	0.000455996	0.9998	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.151184140946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	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	3.76	0.95097	H	-1.02	0.76300	T	-5.61	0.86686	D	0.959	0.96871	0.526	0.90914	D	0.707	0.89936	D	9	0.9863993	0.98947	D	0.151184	0.83277	D	0.784	0.92827	0.936	0.99075	0.853136913371	0.85171	0.933145208149599	0.93293	1.3263232929	0.83567	0.653946042061	0.60546	T	0.51019	0.82668	D	0.402911	0.90080	D	0.340977	0.89956	D	0.998646557331085	0.94736	D	0.940006	0.78426	D	0.8806224	0.89717	0.8459392	0.91232	0.8806224	0.89719	0.8459392	0.91232	-9.826	0.72863	D	.	.	0.658	0.76865	P	.;.;.	.;.;.	5.869775	0.93889	33	0.99853298248364974	0.93279	0.99750	0.99187	D	AEFDBI	0.969360	0.99176	D	0.851430064303803	0.89189	9.870584	0.762173015450625	0.87062	9.094721	0.999999996505598	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.8	5.8	0.92081	7.406000	0.79244	7.512000	0.59634	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:1.0:0.0:0.0	19.051	0.93028	883	0.28872	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	.	.	.	.	.	.	.	.	0.02632	1468.33	33	chr17	68273927	.	C	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=760;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.532;SOR=1.004	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1482,0,1471	18	0	1	0
chr17	72947869	72947869	C	T	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon5:c.G313A:p.A105T,SLC39A11:NM_001352692:exon5:c.G313A:p.A105T,SLC39A11:NM_001352693:exon5:c.G313A:p.A105T,SLC39A11:NM_139177:exon5:c.G313A:p.A105T,SLC39A11:NM_001352691:exon6:c.G313A:p.A105T	.	410	1085	25	2	0	29	0.0131878	.	.	.	704337	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00374713149238	0.0046	0.00279553	0.0048	0.0002	0.0025	0.0001	0.0076	0.0061	0.0077	0.0056	0.0046118	713	154602	rs34970573	0.0055	0.0055	0.0053	0.0056	0.0104	0.0054	0.0053	0.0083	0.0075	0.0009	0.0033	0.0031	7.557e-05	0.0051	0.0104	0.0059	0.0054	0.0066	0.0041	0.0041	0.0040	0.0043	0.0066	0.0039	0.0037	0.0050	0.0048	0.0008	0.0132	0.0047	0.0049	0	0.0067	0.0102	0.0054	0.0080	0.0066	0.409	0.11370	T	0.592	0.20615	T	0.0	0.02946	B	0.003	0.11217	B	0.018991	0.27357	N	0.321572	0.990098	0.24215	N	0.39	0.12200	N	0.85	0.49642	T	-0.45	0.15178	N	0.08	0.17002	-1.0408	0.17071	T	0.051	0.21806	T	10	0.0056734085	0.00126	T	0.003747	0.08713	T	0.041	0.10877	.	.	0.250579442822	0.24687	0.34994783394434953	0.34908	0.135877012715	0.15322	0.428352326155	0.28983	T	0.004389	0.08963	T	-0.50949	0.00505	T	-0.50215	0.22125	T	0.00548680473668962	0.00060	T	.	.	.	0.02683395	0.01791	0.05228267	0.08582	0.02683395	0.01791	0.05228267	0.08581	-4.757	0.34800	T	.	.	0.069	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	2.095461	0.26658	17.19	0.90818432167118368	0.20067	0.11487	0.16666	N	AEFDBI	0.092772	0.18778	N	-0.609792764182639	0.18649	0.969904	-0.479228122868738	0.22726	1.235836	0.0110038585181278	0.12116	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.62	3.63	0.40741	0.879000	0.27783	1.702000	0.28138	0.599000	0.40250	0.081000	0.22364	0.910000	0.28117	0.918000	0.45347	0.0:0.8955:0.0:0.1045	9.146	0.36092	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	0	0	1	0	0.008056	0.000000	0.009511	0.011696	0.000000	0.008621	0.012195	0.000000	0.02632	1000.33	40	chr17	72947869	.	C	T	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=794;ExcessHet=0;FS=3.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.325;SOR=1.094	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1014,0,1052	18	0	1	0
chr17	74698623	74698623	T	G	splicing	CD300LF	NM_001289083:exon4:c.447-2A>C	.	.	.	437	1079	5	1	0	7	0.00323326	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0011	0	0	0	0	0.0015	0	0.0017	0.0002523	39	154602	rs566998097	0.0014	0.0013	0.0015	0.0013	0.0060	0.0013	0.0013	0.0043	0.0038	0.0003	0.0013	0.0003	0	2.917e-05	0.0060	0.0016	0.0014	0.0001	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0012	0	0	0	0	0.0013	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.763207	0.00014	T	-0.893698	0.00548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253177	0.06321	2.783	0.53502680375630707	0.04952	0.01092	0.04017	N	AEFBI	.	.	.	-0.885492111174648	0.11187	0.5385175	-1.13131261509394	0.07108	0.3445295	0.200605301616279	0.18118	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0966614	0.21662	3.61	-5.31	0.02519	-0.392000	0.07375	-0.136000	0.11567	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3228:0.4432:0.234	6.156	0.19554	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	318.33	34	chr17	74698623	.	T	G	318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.027;SOR=0.61	GT:AD:DP:GQ:PL	0/1:13,12:25:99:332,0,381	18	0	1	0
chr17	74843391	74843391	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon13:c.G2746A:p.A916T	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0486464648924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs932510701	4.127e-05	4.788e-05	4e-05	4.257e-05	0.0004	3.225e-05	2.945e-05	0.0002	0.0002	0	0	0	0.0004	0	0	3.437e-05	0.0001	1.267e-05	2.628e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.036	0.43393	D	0.274	0.22084	T	0.999	0.77913	D	0.941	0.67658	D	0.002257	0.36929	N	0.220754	0.999066	0.45987	D	2.295	0.65404	M	2.78	0.11298	T	-1.76	0.41618	N	0.468	0.50418	-1.1611	0.00730	T	0.058	0.24391	T	10	0.40311506	0.55706	T	0.048646	0.63465	D	0.095	0.27398	0.217	0.13788	0.696379046619	0.69376	0.648922610724832	0.64828	1.35881551398	0.84260	0.855335652828	0.90417	D	0.407054	0.76278	T	-0.099742	0.36466	T	-0.381049	0.35598	T	0.89399242401123	0.54531	D	0.885811	0.61165	D	0.11026169	0.26063	0.23465458	0.48688	0.11026169	0.26063	0.23465458	0.48687	-7.208	0.55539	T	.	.	0.258	0.49314	B	.	.	4.419872	0.68443	25.2	0.99904666878913095	0.97576	0.97570	0.75617	D	AEFDBI	0.673913	0.63981	D	0.429340701150789	0.63042	4.530544	0.392326986634691	0.61090	4.304507	0.999999968926556	0.74766	0.59774	0.34471	0	0.588066	0.40923	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.66	3.68	0.41359	7.037000	0.76256	3.787000	0.39814	0.508000	0.23123	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0:0.9185:0.0:0.0815	12.620	0.55958	873	0.30802	Glutamate [NMDA] receptor, epsilon subunit, 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	0.002641	0.000000	0.005556	0.000000	0.000000	0.000000	0.005102	0.000000	0.02632	500.33	33	chr17	74843391	.	C	T	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=638;ExcessHet=0;FS=2.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.416;SOR=1.292	GT:AD:DP:GQ:PL	0/1:24,19:43:99:514,0,549	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	0/1:70,78:148:99:1862,0,1531	17	0	2	0
chr17	80337683	80337683	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon24:c.A4625G:p.Q1542R	.	0	1518	4	0	0	4	0.00131579	.	.	.	756232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00959435454053	.	.	0.0009	0	0.0066	0	0	0.0001	0.0060	0.0015	0.0001035	16	154602	rs781412586	0.0001	9.577e-05	5.132e-05	0.0002	0.0016	8.699e-05	8.215e-05	0.0014	0.0013	0	2.801e-05	0	0	0	0.0002	5.561e-06	0.0001	0.0016	2.628e-05	2.626e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.33585	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.93	0.22881	T	-1.33	0.33197	N	0.049	0.02088	-1.0081	0.27510	T	0.054	0.22693	T	6	0.00625214	0.00141	T	0.009594	0.25085	T	0.059	0.16972	.	.	0.319402600006	0.31557	.	.	0.352426095465	0.37077	0.270537734032	0.06211	T	0.024836	0.18689	T	-0.555682	0.00269	T	-0.606353	0.12284	T	0.0147499311876277	0.00308	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05756	B	.;.	.;.	-0.205944	0.03059	0.475	0.24925806892756242	0.01125	0.02640	0.07239	N	AEFBI	0.027673	0.02302	N	-0.939799336059804	0.09923	0.4718391	-1.06684509049179	0.08360	0.4106858	7.18112796508394E-5	0.04552	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.66	-1.18	0.09122	0.015000	0.13250	0.482000	0.18815	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.4542:0.127:0.4187:0.0	6.049	0.19003	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	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	3226.83	55	chr17	80337683	.	A	G	3226.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.163;DP=978;ExcessHet=0.119;FS=2.933;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.175;SOR=0.895	GT:AD:DP:GQ:PL	0/1:68,78:146:99:1851,0,1843	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	0/1:68,65:133:99:1704,0,1736	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	0/1:37,44:81:99:1215,0,1052	17	0	2	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:194,45:239:16:16,0,5234	9	0	7	3
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	0/1:2,169:460:99:.:.:14503,8023,10268:.	6	3	10	0
chr18	12836808	12836808	T	C	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon2:c.A157G:p.S53G,PTPN2:NM_001207013:exon3:c.A244G:p.S82G,PTPN2:NM_002828:exon3:c.A244G:p.S82G,PTPN2:NM_080422:exon3:c.A244G:p.S82G,PTPN2:NM_080423:exon3:c.A244G:p.S82G	.	307	1204	11	0	0	11	0.00454733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0217224340116	0.0014	0.000199681	0.0011	0	0.0003	0	0	0.0015	0.0011	0.0019	0.0010284	159	154602	rs74163638	0.0011	0.0011	0.0010	0.0012	0.0021	0.0010	0.0010	0.0014	0.0013	0.0002	0.0005	0.0087	0	1.877e-05	0.0021	0.0010	0.0015	0.0016	0.0009	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0006	0.0081	0	0	0.0068	0.0012	0.0005	0.0006	0.033	0.50676	D	0.106	0.45318	T	0.528	0.39680	P	0.177	0.46460	B	0.009466	0.30346	N	0.235539	0.848796	0.28527	N	1.135	0.28956	L	-1.79	0.83815	D	-2.36	0.54382	N	0.333	0.37613	-0.1154	0.79742	T	0.469	0.79519	T	10	0.015157133	0.00318	T	0.021722	0.44526	T	0.418	0.72780	.	.	0.602485811666	0.59930	0.4559346452043075	0.45511	1.14464333826	0.79041	0.424264997244	0.28423	T	0.493838	0.81723	T	-0.303507	0.08332	T	-0.216007	0.53120	T	0.0323590123241052	0.02365	T	0.958704	0.85620	D	0.23082234	0.45844	0.123659536	0.29816	0.23082234	0.45844	0.123659536	0.29815	-8.647	0.67297	D	.	.	0.099	0.23883	B	.;.;.;.;.	.;.;.;.;.	5.426782	0.90767	31	0.9968461613292473	0.79507	0.87318	0.46821	D	AEFDGBIJ	0.253218	0.37275	N	0.325099875581465	0.57440	3.911284	0.428658960054705	0.63357	4.567894	0.999999483537784	0.74766	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	2.470000	0.44777	7.750000	0.68127	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1353:0.0:0.0:0.8647	12.136	0.53275	750	0.51762	.;.;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1418.33	33	chr18	12836808	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=748;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.812;SOR=0.95	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1432,0,1294	18	0	1	0
chr18	23827408	23827408	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon23:c.G2764A:p.V922M,LAMA3:NM_198129:exon23:c.G2764A:p.V922M	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00909519731129	8.1e-05	0.000199681	0.0005	0	0	0	0	0.0004	0	0.0022	0.0004722	73	154602	rs201248742	0.0004	0.0004	0.0003	0.0005	0.0081	0.0004	0.0004	0.0063	0.0056	0.0002	0.0001	0	2.519e-05	1.872e-05	0.0081	0.0003	0.0006	0.0024	0.0003	0.0003	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	9.622e-05	0	0.0008	0	0	0	0	0.0003	0.0005	0.0017	0.078	0.35918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.15	0.19450	T	-0.33	0.12472	N	0.156	0.17278	-1.0304	0.20325	T	0.017	0.06998	T	9	0.007991761	0.00181	T	0.009095	0.23917	T	0.057	0.16321	.	.	0.139678290688	0.13603	0.227753768285214	0.22690	0.219691337709	0.24512	0.348461687565	0.17695	T	0.016916	0.13890	T	-0.624475	0.00103	T	-0.675959	0.07232	T	0.0145026465293493	0.00295	T	0.709329	0.31993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12797	B	.;.	.;.	0.210154	0.05940	2.378	0.91360147553035098	0.20624	0.05480	0.11363	N	AEFDBCIJ	0.067028	0.13156	N	-1.32937693909035	0.03344	0.1491932	-1.4205534804467	0.03047	0.1413918	0.999998383613935	0.74766	0.740787	0.97801	0	0.547309	0.14657	0	0.602189	0.34648	0	0.673998	0.66042	0	.	.	5.65	-4.98	0.02794	-0.224000	0.09169	-0.762000	0.07532	-1.598000	0.00897	0.046000	0.21249	0.000000	0.08366	0.400000	0.26782	0.1024:0.1981:0.3023:0.3973	2.253	0.03799	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.000000	0.006793	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	2681.33	33	chr18	23827408	.	G	A	2681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=807;ExcessHet=0;FS=2.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.682;SOR=0.526	GT:AD:DP:GQ:PL	0/1:86,103:189:99:2695,0,2170	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:41,15:66:50:50,0,752	2	0	16	1
chr18	45915518	45915518	G	T	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon20:c.C3686A:p.P1229H	Vici syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	247153	Vici_syndrome|not_specified	MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.00987876633563	.	.	8.295e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs778094374	1.233e-05	1.368e-05	8.181e-06	1.652e-05	0.0003	7.71e-06	6.36e-06	6.094e-05	4.044e-05	0	0	0	0	0	0.0003	5.405e-06	1.658e-05	0.0001	1.315e-05	1.314e-05	1.285e-05	1.346e-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	0.009	0.57480	D	0.006	0.70582	D	0.963	0.55692	D	0.73	0.55268	P	0.006748	0.31824	N	0.202176	0.999999	0.08975	N	1.5	0.37844	L	2.81	0.10975	T	-2.94	0.61435	D	0.409	0.44952	-1.1253	0.02021	T	0.046	0.19800	T	10	0.4070298	0.55964	T	0.009879	0.25743	T	0.163	0.42028	.	.	0.359357374593	0.35551	0.2818189597564378	0.28094	0.414781725056	0.42146	0.42170599103	0.28072	T	0.135316	0.46706	T	-0.270547	0.11696	T	-0.44487	0.28265	T	0.899830400943756	0.55221	D	0.857114	0.54640	D	0.22345538	0.44967	0.19835201	0.43663	0.22345538	0.44967	0.19835201	0.43662	-4.034	0.24311	T	0.5654884114049941	0.63298	0.143	0.31355	B	.;.	.;.	4.674038	0.74729	26.2	0.99248698822983406	0.56792	0.96586	0.69884	D	AEFBI	0.616738	0.60319	D	0.342041243788195	0.58319	4.003599	0.30992109555854	0.56123	3.77518	0.999933024040073	0.46732	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	6.068000	0.70838	11.738000	0.95134	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:0.0:1.0:0.0	19.421	0.94715	980	0.04108	.;.	.	.	.	.	.	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	1317.33	42	chr18	45915518	.	G	T	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=756;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.405;SOR=0.504	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1331,0,1752	18	0	1	0
chr18	47033028	47033028	T	C	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.A2237G:p.Y746C	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00160019469894	0.0011	0.000199681	0.0006	0.0002	0.0005	0	0	0.0010	0	0.0004	0.0006209	96	154602	rs142085771	0.0010	0.0010	0.0009	0.0010	0.0011	0.0009	0.0009	0.0011	0.0011	0.0002	0.0008	0	0	0	0.0011	0.0011	0.0011	0.0004	0.0006	0.0006	0.0008	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0010	0	0	0	0	0.0010	0.0019	0.0002	0.001	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.556337	0.11382	N	0.711456	1	0.08975	N	1.905	0.50856	L	3.17	0.07599	T	-4.09	0.74821	D	0.35	0.47208	-1.0743	0.08493	T	0.037	0.15899	T	10	0.030993909	0.01230	T	0.002	0.02574	T	0.086	0.25016	.	.	0.0551355673512	0.04727	0.2682000676818802	0.26733	0.322257000999	0.34417	0.661688923836	0.61651	T	0.130713	0.45976	T	-0.477029	0.00770	T	-0.508437	0.21477	T	0.100547130114468	0.12417	T	0.787021	0.55285	T	0.16084333	0.36053	0.15707333	0.36745	0.16084333	0.36053	0.15707333	0.36744	-9.426	0.70398	D	.	.	0.358	0.57066	A	.;.	.;.	2.073909	0.26374	17.10	0.83831333789430507	0.14944	0.01190	0.04255	N	AEFBCI	0.039341	0.05699	N	-0.999401706393971	0.08617	0.4046977	-1.31446182359967	0.04242	0.1996975	0.00247163266526836	0.09461	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	1.62	-3.24	0.04779	-0.177000	0.09789	-1.212000	0.06011	-0.990000	0.01853	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.3236:0.0:0.0:0.6764	5.688	0.17085	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2231.33	33	chr18	47033028	.	T	C	2231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=816;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.413;SOR=0.823	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2245,0,2309	18	0	1	0
chr18	51196864	51196864	G	C	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.C457G:p.Q153E	.	372	1149	1	0	0	1	0.000434972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.196602584967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010525206	7.064e-05	6.705e-05	6.405e-05	7.74e-05	0.0002	5.93e-05	5.449e-05	7.362e-05	6.837e-05	0	0	0	0	0	0.0002	8.815e-05	1.73e-05	1.266e-05	3.288e-05	3.284e-05	2.57e-05	4.039e-05	7.354e-05	1.261e-05	7.98e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.354e-05	0	0	0.01	0.56456	D	1.0	0.01155	T	0.018	0.17786	B	0.006	0.12133	B	.	.	.	.	0.950257	0.26510	N	0	0.06538	N	1.31	0.35405	T	0.04	0.06488	N	0.175	0.18784	-1.0544	0.13198	T	0.045	0.19316	T	9	0.1279827	0.24342	T	0.196603	0.86489	D	0.036	0.09122	0.222	0.14518	0.305252298933	0.30134	.	.	0.767965699156	0.64618	0.900816857815	0.96531	D	0.03467	0.23413	T	-0.245427	0.14663	T	-0.590316	0.13638	T	0.12333846500389	0.14753	T	0.509849	0.16238	T	0.13360396	0.31070	0.16912113	0.38923	0.13360396	0.31070	0.16912113	0.38923	-3.187	0.12322	T	.	.	0.074	0.04889	B	.	.	3.554884	0.49988	22.9	0.68506611449229571	0.08679	0.67396	0.33417	D	ALL	0.304589	0.41225	N	-0.569798503372517	0.19867	1.043127	-0.463462953284357	0.23168	1.262068	0.999999999999978	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.249971	0.05119	0	.	.	2.81	2.81	0.31971	3.664000	0.54263	11.334000	0.92545	0.480000	0.22105	0.971000	0.34370	1.000000	0.68203	0.075000	0.16954	0.0:0.0:1.0:0.0	9.247	0.36695	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	330.33	36	chr18	51196864	.	G	C	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=725;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.11;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13:30:99:0|1:51196847_C_T:344,0,385:51196847	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	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	0/1:58,29:87:99:.:.:269,0,1208:.	1	0	18	0
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,6:33:53:.:.:53,0,687:.	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,6:33:77:.:.:77,0,645:.	8	0	6	5
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	0/1:58,41:99:99:1008,0,1328	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	0/1:17,47:64:99:1276,0,275	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	0/1:20,21:41:99:579,0,637	17	0	2	0
chr19	1360735	1360735	G	A	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.G610A:p.D204N,PWWP3A:NM_001369793:exon4:c.G445A:p.D149N,PWWP3A:NM_001369789:exon5:c.G814A:p.D272N,PWWP3A:NM_001369790:exon5:c.G814A:p.D272N,PWWP3A:NM_001369794:exon5:c.G814A:p.D272N,PWWP3A:NM_001382408:exon5:c.G814A:p.D272N,PWWP3A:NM_001382409:exon5:c.G814A:p.D272N,PWWP3A:NM_001382410:exon5:c.G814A:p.D272N,PWWP3A:NM_032853:exon5:c.G814A:p.D272N	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00975185726149	.	.	.	.	.	.	.	.	.	.	.	.	.	rs935123510	1.643e-05	1.71e-05	1.499e-05	1.789e-05	1.979e-05	1.112e-05	9.34e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	3.315e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.518	0.07307	T	0.532	0.10034	T	.	.	.	.	.	.	0.011505	0.01308	N	2.926850	1	0.08975	N	.	.	.	1.9	0.23884	T	-0.39	0.13611	N	0.069	0.07125	-1.0422	0.16651	T	0.030	0.13111	T	10	0.0534755	0.05545	T	0.009752	0.25449	T	0.010	0.01040	.	.	0.0611884634855	0.05136	.	.	.	.	0.354171812534	0.18534	T	.	.	.	-0.384371	0.02923	T	-0.789899	0.02167	T	0.0552324838936329	0.06396	T	0.59724	0.22223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.090192	0.04941	1.512	0.75103883032752694	0.10947	0.05522	0.11413	N	AEFDBCI	0.049727	0.08621	N	-1.59402896006049	0.01295	0.05636613	-1.67681053947234	0.01243	0.05602341	0.999999993712069	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.778255	0.98755	0	0.735409	0.98432	0	.	.	3.47	-5.59	0.02305	-0.360000	0.07674	0.645000	0.20357	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2805:0.4485:0.271:0.0	6.032	0.18910	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1490.33	38	chr19	1360735	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=816;ExcessHet=0;FS=3.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.043;SOR=1.152	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1504,0,1340	18	0	1	0
chr19	1467630	1467630	C	G	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon14:c.C4326G:p.H1442Q,APC2:NM_005883:exon15:c.C4329G:p.H1443Q	.	390	1129	3	0	0	3	0.00132685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.750309480576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.497e-06	2.052e-06	1.474e-06	1.52e-06	2.728e-05	2.5e-07	9e-08	4.53e-06	1.69e-06	0	0	0	0	0	0	0	0	2.728e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.562	0.09052	T	0.148	0.27908	B	0.032	0.22131	B	0.014501	0.28517	N	0.198662	1	0.81001	D	.	.	.	-3.01	0.92208	D	-2.65	0.56787	D	0.09	0.09772	-0.4730	0.69620	T	0.560	0.83956	D	10	0.20243347	0.36363	T	0.750309	0.98008	D	0.157	0.40909	0.208	0.12497	0.555794988782	0.55239	0.17555650747066226	0.17474	0.556767773663	0.52318	0.689147949219	0.65583	T	0.303002	0.67537	T	-0.0788709	0.39899	T	-0.351069	0.39082	T	0.166537884778001	0.18341	T	0.522748	0.17058	T	0.10261352	0.24248	0.19092576	0.42523	0.10261352	0.24248	0.19092576	0.42522	-2.759	0.07812	T	.	.	0.142	0.31330	B	.;.	.;.	0.763847	0.11336	7.956	0.62637814483081022	0.07014	0.47496	0.27996	N	AEFDBCI	0.138345	0.25962	N	-0.817791660409155	0.12856	0.629405	-0.853279236929474	0.13208	0.6839722	0.999239593144045	0.38840	0.59774	0.34471	0	0.514364	0.08380	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.52	2.32	0.27895	-0.067000	0.11538	-0.150000	0.11428	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.802:0.0:0.198	8.281	0.31058	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	333.33	35	chr19	1467630	.	C	G	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.898;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=-0.289;SOR=0.769	GT:AD:DP:GQ:PL	0/1:33,15:48:99:347,0,855	18	0	1	0
chr19	1754551	1754551	G	A	exonic	ONECUT3	.	nonsynonymous SNV	ONECUT3:NM_001080488:exon1:c.G889A:p.G297R	.	469	1050	3	0	0	3	0.00142653	.	.	.	3370562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.379799464914	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868384237	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0006	0.0001	3.58e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0004	9.002e-05	7.53e-05	0.0001	0.0001	2.442e-05	0	6.781e-05	0	0	0	0	0.0002	0.0005	0.0004	0.355	0.12109	T	0.584	0.08390	T	0.865	0.47557	P	0.114	0.31755	B	0.175215	0.03141	U	2.034260	0.988557	0.24397	N	0.895	0.22405	L	-2.01	0.85468	D	0.83	0.01787	N	0.188	0.20528	-0.6319	0.63490	T	0.307	0.67759	T	10	0.15465486	0.29166	T	0.379799	0.92944	D	0.243	0.54921	0.232	0.16005	0.507449927524	0.50384	.	.	.	.	0.885410308838	0.94676	D	0.008517	0.07817	T	-0.220008	0.17991	T	-0.241423	0.50659	T	0.163467866348915	0.18124	T	0.385361	0.09439	T	0.04035094	0.05742	0.089884125	0.21045	0.04035094	0.05741	0.089884125	0.21045	-7.813	0.59789	D	.	.	0.292	0.52335	B	.	.	2.430807	0.31268	18.69	0.97475359580673127	0.34157	0.61721	0.31568	D	AEFDBCI	0.067349	0.13236	N	-0.223592051680261	0.32166	1.811247	-0.175345912010634	0.32446	1.846004	0.202974358251701	0.18147	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.26	2.14	0.26518	1.773000	0.38192	6.953000	0.57030	0.506000	0.23061	0.987000	0.36337	1.000000	0.68203	0.294000	0.24357	0.0:0.0:0.7114:0.2886	8.495	0.32282	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	442.35	16	chr19	1754551	.	G	A	442.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=295;ExcessHet=0;FS=0;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=2.07;SOR=0.668	GT:AD:DP:GQ:PL	0/1:9,16:25:99:456,0,247	18	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q,ATP8B3:NM_138813:exon9:c.G778C:p.E260Q	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	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	1040.33	65	chr19	1805931	.	C	G	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=790;ExcessHet=0;FS=3.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-1.659;SOR=0.389	GT:AD:DP:GQ:PL	0/1:69,45:114:99:1054,0,1904	18	0	1	0
chr19	2994954	2994954	G	A	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon16:c.G1300A:p.V434I,TLE6:NM_001143986:exon17:c.G1669A:p.V557I	Preimplantation embryonic lethality, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2217019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.00372741152482	7.7e-05	.	6.469e-05	0.0001	0.0002	0.0001	0	1.968e-05	0	7.621e-05	4.53e-05	7	154602	rs201878408	5.696e-05	5.814e-05	6.688e-05	4.692e-05	6.764e-05	4.691e-05	4.315e-05	5.343e-05	4.915e-05	5.987e-05	6.764e-05	0	0	0	0	6.575e-05	4.986e-05	2.343e-05	8.55e-05	8.54e-05	0.0001	6.735e-05	0.0002	4.962e-05	3.966e-05	5.842e-05	4.239e-05	7.245e-05	0	6.564e-05	0	0	0	0	0.0001	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.375	0.00634	N	2.92	0.09915	T	0.74	0.02038	N	0.116	0.10483	-0.9884	0.33002	T	0.007	0.02244	T	9	0.029922128	0.01118	T	0.003727	0.08651	T	0.083	0.24192	.	.	0.388970301349	0.38507	0.027720445136019674	0.02722	0.0540983458757	0.05977	0.265769898891	0.05597	T	0.035569	0.23770	T	-0.538638	0.00341	T	-0.763184	0.03000	T	0.00795707172084881	0.00094	T	0.436356	0.13467	T	0.015898399	0.00164	0.03487859	0.02636	0.015898399	0.00164	0.03487859	0.02635	-1.257	0.01588	T	.	.	0.066	0.02285	B	.;.	.;.	-1.867197	0.00136	0.002	0.75270510892504794	0.11010	0.03652	0.08906	N	AEFDBHI	0.039722	0.05810	N	-2.18822732205761	0.00081	0.003487605	-2.14993886743189	0.00145	0.006368499	0.0387344192024313	0.14361	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.37	-6.75	0.01575	0.254000	0.18084	-3.017000	0.03137	-2.389000	0.00298	0.977000	0.34929	0.000000	0.08366	0.000000	0.00833	0.1667:0.1198:0.7135:0.0	14.201	0.65246	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	1	0	.	.	.	.	.	.	.	.	0.02632	1397.33	43	chr19	2994954	.	G	A	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=870;ExcessHet=0;FS=8.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.651;SOR=0.251	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1411,0,1208	18	0	1	0
chr19	4891552	4891552	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon3:c.G481A:p.E161K,ARRDC5:NM_001367189:exon4:c.G547A:p.E183K	.	432	1064	24	2	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00410282417331	0.0033	0.00239617	0.0039	0.0011	0.0032	0	0.0003	0.0056	0.0060	0.0027	0.0036287	561	154602	rs117229323	0.0046	0.0046	0.0046	0.0046	0.0107	0.0045	0.0045	0.0086	0.0078	0.0010	0.0044	0.0089	0	0.0005	0.0107	0.0050	0.0052	0.0027	0.0037	0.0037	0.0037	0.0037	0.0069	0.0035	0.0034	0.0059	0.0055	0.0010	0	0.0069	0.0052	0	0.0003	0.0340	0.0055	0.0047	0.0015	0.296	0.14694	T	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.005155	0.33053	N	0.139503	0.999958	0.19072	N	2.255	0.64187	M	2.12	0.19726	T	-1.55	0.37566	N	0.099	0.08088	-1.0063	0.28065	T	0.019	0.08033	T	10	0.004798323	0.00102	T	0.004103	0.09806	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.30261166566913883	0.30174	0.141106849071	0.15915	0.377224206924	0.21861	T	0.034748	0.23446	T	-0.5912	0.00165	T	-0.618687	0.11289	T	0.00692169043717743	0.00078	T	0.626737	0.24270	T	0.052711822	0.09870	0.05264129	0.08714	0.052711822	0.09870	0.05264129	0.08714	-4.812	0.34731	T	.	.	0.070	0.03588	B	.	.	1.423129	0.18399	13.72	0.9374996075781642	0.23690	0.02154	0.06332	N	AEFGBI	0.046700	0.07783	N	-1.13271059564567	0.06069	0.2784059	-1.13582331712859	0.07025	0.340216	0.0685876650961028	0.15462	0.594549	0.33734	0	0.486142	0.07564	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.92	0.412	0.15614	-0.170000	0.09886	-0.527000	0.08657	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.483:0.1589:0.3581	4.368	0.10668	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	0.009615	0.010101	0.008152	0.015060	0.000000	0.017241	0.009146	0.011364	0.02632	1145.33	35	chr19	4891552	.	C	T	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=702;ExcessHet=0;FS=3.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.397;SOR=1.213	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1159,0,901	18	0	1	0
chr19	6751226	6751226	G	A	exonic	TRIP10	.	nonsynonymous SNV	TRIP10:NM_001288963:exon14:c.G1682A:p.R561Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0055303097375	7.7e-05	0.000199681	0.0001	0	0	0.0001	0	3.069e-05	0	0.0007	0.00011	17	154602	rs374069312	0.0001	0.0001	9.804e-05	0.0001	0.0010	0.0001	9.97e-05	0.0008	0.0007	5.975e-05	0	0	5.04e-05	0	0	7.555e-05	8.281e-05	0.0010	9.195e-05	9.186e-05	7.711e-05	0.0001	0.0004	5.525e-05	4.363e-05	9.05e-05	7.014e-05	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	1.18	0.37746	T	.	.	.	0.187	0.20395	-1.0259	0.21788	T	0.068	0.28013	T	7	0.016540766	0.00349	T	0.00553	0.14258	T	.	.	.	.	0.390842690916	0.38694	.	.	.	.	.	.	.	0.005259	0.04708	T	-0.356111	0.04355	T	-0.35711	0.38388	T	0.0151379757110794	0.00330	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04477	B	.	.	0.515057	0.08836	5.617	0.7651414408448457	0.11498	0.12386	0.17237	N	AEFBCI	0.089745	0.18189	N	-0.849333605898521	0.12066	0.5859277	-0.905055764684157	0.11975	0.6133007	0.997192389857542	0.35363	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.61	2.41	0.28644	0.387000	0.20445	0.112000	0.14796	0.618000	0.50648	0.051000	0.21449	0.003000	0.18671	0.224000	0.22571	0.1009:0.0:0.7056:0.1935	5.647	0.16875	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	1740.33	33	chr19	6751226	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=780;ExcessHet=0;FS=3.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.94;SOR=0.907	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1754,0,1653	18	0	1	0
chr19	7382875	7382875	T	C	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon9:c.T806C:p.V269A	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116036520201	.	0.000199681	0.0016	0	0	0	.	0.0027	0	0	0.0001035	16	154602	rs183357795	0.0009	0.0007	0.0009	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	8.706e-05	0.0001	0	0	0.0058	0.0007	0.0008	0.0006	0.0009	0.0012	0.0012	0.0007	0.0017	0.0011	0.0011	0.0010	0.0009	0.0008	0.0001	0	0.0002	0	0	0.0092	0	0.0011	0.0005	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.68863	.	.	.	.	.	.	.	0.03978789	0.02496	T	0.116037	0.79540	D	.	.	.	.	0.381916209588	0.37799	.	.	.	.	.	.	.	.	.	.	-0.327759	0.06283	T	-0.299928	0.44733	T	.	.	.	0.651635	0.26249	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.85593	P	.	.	4.214384	0.63694	24.6	0.9987210807160759	0.94989	0.72551	0.35507	D	AEFDBHCI	0.467919	0.51494	N	.	.	.	.	.	.	0.99998288903117	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	3.900000	0.56008	7.596000	0.61403	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:0.0:0.0:1.0	10.954	0.46556	.	.	.	.	.	.	.	.	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	1976.33	33	chr19	7382875	.	T	C	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.651;DP=868;ExcessHet=0;FS=2.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.408;SOR=0.931	GT:AD:DP:GQ:PL	0/1:83,89:172:99:1990,0,2133	18	0	1	0
chr19	7689276	7689276	C	T	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon10:c.G880A:p.G294S,FCER2:NM_001220500:exon11:c.G883A:p.G295S,FCER2:NM_002002:exon11:c.G883A:p.G295S	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00206618750128	0.0002	0.000399361	0.0010	0	0.0003	0	0	0.0003	0	0.0058	0.0008021	124	154602	rs145322667	0.0005	0.0005	0.0003	0.0006	0.0057	0.0004	0.0004	0.0052	0.0051	0	0.0003	0.0026	0	0	0.0011	4.947e-05	0.0007	0.0057	0.0003	0.0003	0.0002	0.0004	0.0058	0.0003	0.0002	0.0041	0.0036	0	0	0.0002	0.0032	0	0	0	0.0001	0.0005	0.0058	0.208	0.19782	T	0.083	0.41405	T	0.011	0.15914	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.22	0.02640	T	-0.25	0.11008	N	0.071	0.04426	-0.9153	0.46181	T	0.006	0.01944	T	9	0.0056749284	0.00126	T	0.002066	0.03775	T	0.019	0.03383	.	.	0.268660756437	0.26461	0.2542666314091462	0.25340	0.0742822433672	0.08328	0.369940340519	0.20823	T	0.020736	0.16275	T	-0.650377	0.00072	T	-0.70494	0.05559	T	0.0113932384295459	0.00170	T	0.610839	0.23175	T	0.061835486	0.12850	0.048485443	0.07212	0.061835486	0.12849	0.048485443	0.07211	-3.15	0.11879	T	.	.	0.083	0.10691	B	.;.;.	.;.;.	1.340693	0.17474	13.18	0.82768756889159711	0.14365	0.09866	0.15523	N	AEFBCI	0.075125	0.15077	N	-1.02373545706851	0.08113	0.3792808	-1.05925599340218	0.08514	0.4190344	0.114925523176531	0.16743	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	2.67	1.59	0.22622	1.368000	0.33820	-2.947000	0.03203	0.548000	0.25860	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.8332:0.0:0.1668	5.979	0.18631	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	754.33	39	chr19	7689276	.	C	T	754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=724;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.208;SOR=0.602	GT:AD:DP:GQ:PL	0/1:65,35:100:99:768,0,1669	18	0	1	0
chr19	7870949	7870954	CGGGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2290_2295del:p.A764_P765del	.	430	1040	39	2	11	54	0.0202544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0	0	0	0	0.0072	0	0.05	0.0002689	7	26028	rs765354740	0.0024	0.0023	0.0019	0.0030	0.0194	0.0024	0.0023	0.0184	0.0180	0.0002	0.0014	0.0156	6.244e-05	0.0078	0.0037	0.0013	0.0039	0.0194	0.0033	0.0033	0.0033	0.0033	0.0150	0.0031	0.0030	0.0119	0.0108	0.0004	0.0025	0.0007	0.0207	0	0.0067	0.0043	0.0038	0.0027	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3971.79	52	chr19	7870948	.	GCGGGGC	G	3971.79	.	AC=2;AF=0.053;AN=38;DP=1149;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.4;QD=26.3;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,65:78:99:0|1:7870948_GCGGGGC_G:1974,0,160:7870948	17	0	2	0
chr19	7870956	7871018	AGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2226_2288del:p.P743_L763del	.	429	1041	39	2	11	54	0.0202353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	0	0	0	0.1429	0.0118	0	0.0588	0.0002689	7	26028	.	0.0025	0.0021	0.0019	0.0030	0.0190	0.0024	0.0024	0.0181	0.0177	0.0002	0.0012	0.0159	0	0.0078	0.0037	0.0013	0.0039	0.0190	0.0032	0.0032	0.0032	0.0033	0.0146	0.0030	0.0029	0.0116	0.0105	0.0004	0.0024	0.0006	0.0202	0	0.0059	0.0040	0.0038	0.0026	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3127.02	52	chr19	7870955	.	TAGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	T	3127.02	.	AC=2;AF=0.053;AN=38;DP=1165;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.46;QD=30.96;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,53:72:99:0|1:7870948_GCGGGGC_G:1927,0,633:7870948	17	0	2	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	0/1:73,20:93:83:83,0,1839	6	0	10	3
chr19	7921711	7921711	A	G	exonic	SNAPC2	.	nonsynonymous SNV	SNAPC2:NM_003083:exon3:c.A310G:p.T104A	.	428	1093	1	0	0	1	0.000457247	.	.	.	2333571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00977916385424	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267908308	3.421e-06	4.788e-06	5.446e-06	1.376e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	1.0	0.01155	T	0.164	0.28467	B	0.098	0.30479	B	0.595419	0.11009	N	0.806538	0.998018	0.22395	N	1.355	0.33814	L	0.95	0.43279	T	-1.81	0.42575	N	0.255	0.28849	-0.9929	0.31853	T	0.060	0.25127	T	10	0.09562802	0.17093	T	0.009779	0.25518	T	0.024	0.04979	0.245	0.17984	0.345405024496	0.34151	0.32366662716215916	0.32279	0.106859039483	0.12070	0.28206974268	0.07783	T	0.004534	0.03938	T	-0.239628	0.15396	T	-0.581985	0.14369	T	0.102313838899136	0.12610	T	0.555444	0.19245	T	0.05400975	0.10303	0.05599434	0.09925	0.05400975	0.10303	0.05599434	0.09924	-2.795	0.08138	T	.	.	0.098	0.16231	B	.	.	1.556745	0.19942	14.51	0.94230394834022313	0.24487	0.12292	0.17179	N	AEFGBHCI	0.106600	0.21264	N	-0.883859635414085	0.11227	0.5406161	-0.798400997957961	0.14534	0.7599125	0.99999927010107	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.638787	0.57140	0	.	.	4.71	2.53	0.29594	0.178000	0.16634	3.160000	0.36564	-0.057000	0.16691	0.087000	0.22510	0.983000	0.30585	0.553000	0.30245	0.6262:0.1909:0.0:0.1829	5.091	0.14042	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	590.33	39	chr19	7921711	.	A	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=734;ExcessHet=0;FS=7.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.451;SOR=1.022	GT:AD:DP:GQ:PL	0/1:36,23:59:99:604,0,902	18	0	1	0
chr19	8812045	8812045	C	T	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon5:c.G232A:p.V78M,ZNF558:NM_144693:exon10:c.G445A:p.V149M	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0014	0.00439297	0.0044	0.0002	0.0053	0	0.0006	0.0033	0.0037	0.0179	0.0038615	597	154602	rs141831046	0.0028	0.0028	0.0025	0.0031	0.0130	0.0027	0.0027	0.0123	0.0121	0.0003	0.0035	0.0027	0	0.0011	0.0101	0.0022	0.0028	0.0130	0.0020	0.0020	0.0019	0.0022	0.0159	0.0018	0.0018	0.0131	0.0120	0.0005	0	0.0029	0.0023	0	0.0007	0.0136	0.0021	0.0028	0.0159	0.107	0.29554	T	0.031	0.53788	D	0.039	0.21116	B	0.006	0.12133	B	0.340135	0.13976	N	0.591552	0.998792	0.22406	N	1.455	0.36767	L	3.17	0.07599	T	0.16	0.05217	N	0.044	0.01999	-1.0012	0.29574	T	0.009	0.03359	T	10	0.003851056	0.00073	T	.	.	.	0.058	0.16647	.	.	0.130388298395	0.12655	0.09299499701072154	0.09231	0.20279396824	0.22698	0.293731838465	0.09470	T	0.00803	0.07391	T	-0.650123	0.00072	T	-0.694957	0.06106	T	0.0120876687652582	0.00192	T	0.494351	0.15306	T	0.025182182	0.01428	0.038717877	0.03801	0.025182182	0.01427	0.038717877	0.03801	-4.766	0.34192	T	.	.	0.117	0.27642	B	.;.	.;.	2.078965	0.26438	17.12	0.9861390534756953	0.43677	0.00829	0.03338	N	AEFBCI	0.132287	0.25153	N	-0.458921022129041	0.23439	1.258686	-0.411463281630776	0.24661	1.351677	4.99188529119317E-4	0.07150	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.19	0.561	0.16471	2.270000	0.43014	.	.	0.537000	0.25018	0.995000	0.38783	0.047000	0.21741	0.987000	0.62547	0.0:0.6206:0.1373:0.242	6.149	0.19515	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.022727	0.02632	695.33	34	chr19	8812045	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=684;ExcessHet=0;FS=4.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.361;SOR=1.371	GT:AD:DP:GQ:PL	0/1:31,26:57:99:709,0,765	18	0	1	0
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3381.43	598	chr19	8888763	.	G	A	3381.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.37;DP=10081;ExcessHet=0.7564;FS=19.396;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.97;MQRankSum=-9.973;QD=1.4;ReadPosRankSum=1.4;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:531,67:598:99:0|1:8888763_G_A:1209,0,21996:8888763	15	0	4	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1400.79	589	chr19	8888772	.	T	C	1400.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.529;DP=10042;ExcessHet=0.3672;FS=19.338;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.04;MQRankSum=-9.956;QD=0.77;ReadPosRankSum=1.05;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:536,58:594:99:.:.:426,0,22212:.	16	0	3	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|1:318,88:467:99:0|1:8888826_T_*:2738,0,13088:8888826	2	0	17	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:178,15:193:94:94,0,7403	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:173,15:188:99:109,0,7179	11	0	8	0
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	0/1:101,100:201:99:2667,0,2776	16	0	3	0
chr19	9757861	9757864	AATT	-	exonic	ZNF846	.	frameshift deletion	ZNF846:NM_001353798:exon5:c.826_829del:p.N276Pfs*8,ZNF846:NM_001077624:exon6:c.1213_1216del:p.N405Pfs*8,ZNF846:NM_001353799:exon6:c.1210_1213del:p.N404Pfs*8	.	381	1134	7	0	0	7	0.00307692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0008	0	0.0002	0	0.0012	0.0011	0.0022	0.0010	0.0006662	103	154602	rs779744151	0.0006	0.0006	0.0005	0.0006	0.0036	0.0006	0.0005	0.0024	0.0021	0.0001	0.0004	0.0001	0	0.0006	0.0036	0.0006	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0007	0.0006	0	0	0.0004	0	0	0.0003	0	0.0008	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	4124.79	33	chr19	9757860	.	GAATT	G	4124.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.287;DP=825;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=1.66;SOR=0.802	GT:AD:DP:GQ:PL	0/1:41,56:97:99:2168,0,1533	17	0	2	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N,SHFL:NM_018381:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-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	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	166.94	111	chr19	10089677	.	G	C	166.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.657;DP=1634;ExcessHet=1.3;FS=278.301;InbreedingCoeff=-0.1758;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=-0.038;SOR=11.394	GT:AD:DP:GQ:PL	0/1:59,27:86:99:100,0,1421	13	0	5	1
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	0/1:101,80:181:99:1771,0,2291	16	0	3	0
chr19	12924762	12924762	G	A	exonic	FARSA	.	nonsynonymous SNV	FARSA:NM_004461:exon10:c.C1072T:p.R358W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.34781265409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466031326	2.758e-06	4.104e-06	1.369e-06	4.169e-06	3.623e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.623e-06	0	0	1.314e-05	1.313e-05	2.568e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.385	0.99984	H	-2.3	0.87671	D	-7.93	0.96269	D	0.991	0.99863	0.968	0.96666	D	0.882	0.96072	D	10	0.9872068	0.99073	D	0.347813	0.92188	D	0.865	0.95912	0.921	0.98604	0.981522659944	0.98132	0.9195851183921998	0.91934	1.23396651691	0.81424	0.887668251991	0.94967	D	0.500915	0.92221	D	0.446076	0.92303	D	0.402981	0.92208	D	0.999846339225769	0.99309	D	0.994934	0.98279	D	0.89448833	0.90896	0.6421841	0.79091	0.89448833	0.90897	0.6421841	0.79092	-16.955	0.98960	D	.	.	0.975	0.90171	P	.;.;.	.;.;.	5.935491	0.94113	33	0.99915715425724771	0.98379	0.87355	0.46869	D	AEFGBCI	0.744114	0.68720	D	0.915618323092682	0.92502	11.46062	0.765850585504924	0.87336	9.187121	0.999957043512499	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.383000	0.52206	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.7026:0.2974	11.146	0.47654	571	0.70397	Phenylalanyl-tRNA synthetase|Aminoacyl-tRNA synthetase, class II;.;Phenylalanyl-tRNA synthetase|Aminoacyl-tRNA synthetase, class II	.	.	.	.	.	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	4032.33	59	chr19	12924762	.	G	A	4032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1001;ExcessHet=0;FS=6.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.14;SOR=0.635	GT:AD:DP:GQ:PL	0/1:172,155:327:99:4046,0,4098	18	0	1	0
chr19	15021909	15021909	G	A	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon6:c.G1241A:p.R414H	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00508562567452	7.7e-05	0.000998403	0.0009	0	0.0002	0	0	0	0	0.0064	0.0007762	120	154602	rs144636554	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	0	0	2.519e-05	0	0.0009	7.196e-06	0.0005	0.0065	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	4.411e-05	0.0005	0.0060	0.35	0.12305	T	0.29	0.21011	T	0.113	0.26349	B	0.042	0.24114	B	0.019599	0.27223	N	0.243987	0.99192	0.23962	N	2.135	0.59519	M	4.32	0.02387	T	0.43	0.03297	N	0.258	0.29197	-0.9928	0.31880	T	0.009	0.03403	T	10	0.009946078	0.00223	T	0.005086	0.12877	T	0.027	0.05988	.	.	0.394990421082	0.39112	0.19193225047649845	0.19111	0.499625921639	0.48394	0.346042126417	0.17338	T	0.001958	0.01365	T	-0.516373	0.00462	T	-0.511342	0.21176	T	0.0712384688373011	0.08824	T	0.660434	0.26965	T	0.05977757	0.12190	0.06423472	0.12844	0.05977757	0.12190	0.06423472	0.12843	-4.673	0.33076	T	.	.	0.091	0.13268	B	.	.	1.249520	0.16459	12.55	0.38726902015103715	0.02629	0.05847	0.11790	N	AEFDBI	0.070678	0.14041	N	-0.486620417560714	0.22519	1.202968	-0.478136453500539	0.22757	1.237641	3.65166495768053E-4	0.06707	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.7	0.31007	0.029000	0.13555	.	.	0.676000	0.76740	0.024000	0.20007	0.123000	0.22922	0.185000	0.21450	0.1259:0.0:0.8741:0.0	7.336	0.25784	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	0.001523	0.000000	0.002732	0.000000	0.000000	0.000000	0.003106	0.003817	0.02632	1588.33	40	chr19	15021909	.	G	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=875;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.326;SOR=0.791	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1602,0,1698	18	0	1	0
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	0/1:51,25:76:99:655,0,1325	17	0	2	0
chr19	16808103	16808103	G	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon17:c.G3636C:p.Q1212H,NWD1:NM_001007525:exon18:c.G4254C:p.Q1418H,NWD1:NM_001290355:exon19:c.G3849C:p.Q1283H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0131409081108	.	.	8.256e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs773558577	3.421e-05	3.42e-05	2.45e-05	4.401e-05	0.0005	2.631e-05	2.375e-05	0.0004	0.0004	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23631	T	0.004	0.74150	D	0.799	0.44910	P	0.465	0.46596	P	0.546587	0.11480	N	0.783363	0.999989	0.18198	N	1.87	0.49600	L	-0.19	0.65931	T	-1.51	0.39887	N	0.224	0.28732	-0.9324	0.43785	T	0.194	0.54754	T	10	0.055022597	0.05949	T	0.013141	0.32307	T	0.026	0.05648	0.367	0.37524	0.233785782151	0.22967	0.16708252895573447	0.16628	0.380550716014	0.39422	0.351144492626	0.18091	T	0.006674	0.06097	T	-0.347698	0.04874	T	-0.373058	0.36531	T	0.117200671735127	0.14153	T	0.69663	0.30897	T	0.108037114	0.25545	0.07692922	0.17088	0.108037114	0.25544	0.07692922	0.17087	-5.042	0.37293	T	.	.	0.147	0.32565	B	.;.;.;.	.;.;.;.	1.608169	0.20553	14.80	0.97936530958671553	0.36999	0.05690	0.11609	N	AEFDBIJ	0.049568	0.08577	N	-0.268190199925203	0.30384	1.693681	-0.332047342939393	0.27069	1.499555	7.55428509416629E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.574621	0.27300	0	0.613276	0.41899	0	.	.	4.76	2.59	0.30091	0.189000	0.16845	0.706000	0.20886	0.676000	0.76740	0.038000	0.20882	0.007000	0.19602	0.414000	0.27095	0.1899:0.1646:0.6455:0.0	5.414	0.15662	929	0.16858	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2222.33	37	chr19	16808103	.	G	C	2222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.281;DP=836;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.003;SOR=0.909	GT:AD:DP:GQ:PL	0/1:103,94:197:99:2236,0,2741	18	0	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.1053	5960.41	33	chr19	18266981	.	T	C	5960.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.894;DP=1301;ExcessHet=0.0101;FS=0.904;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.36;SOR=0.648	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1220,0,1585	16	1	2	0
chr19	19642536	19642536	C	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon2:c.G103A:p.V35M,GMIP:NM_001288999:exon2:c.G103A:p.V35M,GMIP:NM_016573:exon2:c.G103A:p.V35M	.	420	1099	2	1	0	4	0.00181653	0.8397	0.518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00708659237561	0.0002	0.000599042	0.0007	0	8.645e-05	0	0	0.0002	0	0.0046	0.0006468	100	154602	rs140925349	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0004	0.0043	0.0041	0	4.487e-05	0.0002	0.0001	0	0.0002	0.0003	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.41e-05	0	6.537e-05	0	0.0004	0	0	0.0003	0	0.0031	0.03	0.45393	D	0.086	0.41074	T	0.968	0.56581	D	0.374	0.43683	B	0.036760	0.24484	N	0.200743	0.807957	0.29036	N	2.8	0.81625	M	1.86	0.24285	T	-1.09	0.28290	N	0.472	0.50778	-0.9592	0.39330	T	0.070	0.28609	T	10	0.010494798	0.00233	T	0.007087	0.18786	T	0.060	0.17295	.	.	0.358744678677	0.35482	0.4513975162507158	0.45057	0.0572773442425	0.06337	0.547930419445	0.45565	T	0.024745	0.18639	T	-0.432345	0.01435	T	-0.393132	0.34185	T	0.0901199381700823	0.11233	T	0.872813	0.58002	D	0.19716491	0.41571	0.22962062	0.48039	0.19716491	0.41570	0.22962062	0.48038	-3.892	0.25275	T	.	.	0.123	0.40842	B	.;.	.;.	4.250489	0.64514	24.7	0.99736974138788637	0.83192	0.63556	0.32126	D	AEFDGBHCI	0.288226	0.40017	N	0.330269694528163	0.57707	3.93923	0.322548757941629	0.56869	3.850825	0.999999999901661	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.526803	0.08958	0	.	.	4.14	4.14	0.47821	1.583000	0.36188	.	.	0.599000	0.40250	0.941000	0.32681	0.974000	0.29927	0.983000	0.59808	0.0:1.0:0.0:0.0	12.086	0.52997	439	0.80177	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1586.33	34	chr19	19642536	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=804;ExcessHet=0;FS=3.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.151;SOR=0.97	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1600,0,1530	18	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,74:75:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1618,120,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,74:75:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1618,120,0:20624327	11	5	0	3
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|1:118,10:128:65:0|1:21383168_A_G:65,0,4925:21383168	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|1:119,9:128:20:0|1:21383168_A_G:20,0,4970:21383168	9	0	8	2
chr19	22758766	22758766	C	G	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1143C:p.L381F	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000479845964347	.	0.000998403	0.0002	0	8.642e-05	0	0	1.5e-05	0	0.0015	0.0002005	31	154602	rs539751305	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	3.016e-05	0	0	0	0	0.0004	9.394e-05	0.0002	0.0017	7.972e-05	9.23e-05	5.195e-05	0.0001	0.0021	4.543e-05	3.549e-05	0.0011	0.0009	2.445e-05	0	0	0	0	0	0	1.48e-05	0	0.0021	0.355	0.12109	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.22	0.09567	N	2.39	0.15724	T	0.37	0.03639	N	0.044	0.05670	-0.9385	0.42853	T	0.022	0.09147	T	9	0.01118198	0.00246	T	4.8E-4	0.00133	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.0035886764970002693	0.00335	0.0160938352243	0.01538	0.302615761757	0.10792	T	0.028658	0.20707	T	-0.756454	0.00016	T	-0.889449	0.00579	T	0.0708081668462036	0.08764	T	0.0449955	0.00681	T	0.023256425	0.01050	0.047297906	0.06783	0.023256425	0.01050	0.047297906	0.06783	-0.217	0.00435	T	.	.	0.087	0.11366	B	.;.	.;.	-1.141527	0.00592	0.015	0.23121585542732107	0.00963	0.00085	0.00571	N	AEFBI	0.017670	0.00479	N	-2.22393890979465	0.00068	0.002894926	-2.3477772528545	0.00052	0.002282033	0.0042752526358043	0.10483	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.55	0.05922	-3.487000	0.00506	.	.	-2.244000	0.00339	0.000000	0.06391	0.012000	0.20211	0.000000	0.00833	0.274:0.3385:0.2185:0.169	0.821	0.01041	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	.	.	.	.	.	.	.	.	0.02632	2182.33	75	chr19	22758766	.	C	G	2182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1334;ExcessHet=0;FS=2.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.57;MQRankSum=-1.883;QD=12.69;ReadPosRankSum=-0.066;SOR=0.644	GT:AD:DP:GQ:PL	0/1:93,79:172:99:2196,0,2479	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|1:29,43:72:99:0|1:23223989_G_A:1175,0,1089:23223989	17	0	2	0
chr19	23361430	23361430	G	A	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.C1453T:p.P485S,ZNF91:NM_003430:exon4:c.C1549T:p.P517S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00303218989502	.	0.000599042	0.0002	0	0	0	0	1.513e-05	0.0011	0.0016	0.000207	32	154602	rs550074503	0.0001	0.0001	7.761e-05	0.0001	0.0017	9.605e-05	9.085e-05	0.0015	0.0014	0	0	0	0	0	0.0002	0	0.0002	0.0017	4.607e-05	4.598e-05	1.287e-05	8.078e-05	0.0015	2.112e-05	1.529e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.04	0.68238	D	0.023	0.60972	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.982649	0.30357	N	1.05	0.26816	L	1.88	0.28391	T	-5.71	0.87457	D	0.139	0.20129	-0.9015	0.47835	T	0.123	0.42631	T	9	0.02085054	0.00488	T	0.003032	0.06517	T	0.198	0.48105	0.338	0.32816	0.460526725402	0.45678	0.008063395122404253	0.00771	0.77361900587	0.64902	0.293578714132	0.09446	T	0.045241	0.27062	T	-0.505006	0.00536	T	-0.52281	0.20010	T	0.248542340886933	0.22807	T	0.0214979	0.00129	T	0.06825256	0.14853	0.12353006	0.29786	0.06825256	0.14853	0.12353006	0.29786	-7.062	0.54486	T	.	.	0.271	0.50472	B	.;.	.;.	1.463390	0.18861	13.96	0.99019841216308335	0.50548	0.83320	0.42446	D	AEFBCI	0.159071	0.28482	N	-0.00404489583872018	0.41672	2.496801	-0.213565673332928	0.31047	1.753553	6.39496180897282E-4	0.07505	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	1.71	1.71	0.23429	2.411000	0.44254	.	.	0.318000	0.19305	0.973000	0.34540	0.000000	0.08366	0.008000	0.08271	0.0:0.0:1.0:0.0	10.370	0.43229	988	0.01987	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	1080.33	33	chr19	23361430	.	G	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=1474;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=0.977;QD=12.86;ReadPosRankSum=0.65;SOR=0.405	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1094,0,1169	18	0	1	0
chr19	30548873	30548873	A	G	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon4:c.A3254G:p.K1085R,ZNF536:NM_014717:exon4:c.A3254G:p.K1085R,ZNF536:NM_001376110:exon5:c.A3254G:p.K1085R,ZNF536:NM_001376111:exon5:c.A3254G:p.K1085R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00288608258775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.1	0.38742	T	0.007	0.14184	B	0.005	0.11217	B	0.047248	0.23362	N	0.495214	0.72842	0.33692	D	1.1	0.28011	L	3.0	0.09167	T	-0.47	0.15178	N	0.296	0.33469	-1.0670	0.10085	T	0.021	0.08963	T	10	0.12607107	0.23965	T	0.002886	0.06074	T	0.076	0.22200	0.185	0.09388	0.102598925029	0.09809	0.22608861611101413	0.22523	0.520643178341	0.49859	0.415079802275	0.27159	T	0.033002	0.22729	T	-0.330431	0.06080	T	-0.712417	0.05172	T	0.254855990409851	0.23089	T	0.731927	0.34732	T	0.035947397	0.04328	0.05754498	0.10480	0.035947397	0.04328	0.05754498	0.10479	-4.544	0.31460	T	.	.	0.077	0.06250	B	.	.	1.556934	0.19948	14.52	0.93237670832894792	0.22921	0.95800	0.66207	D	AEFBI	0.152402	0.27707	N	-0.542389263509041	0.20722	1.094546	-0.432036825418145	0.24062	1.315627	1.22724855646173E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	3.64	0.40864	3.272000	0.51319	2.925000	0.35585	-0.050000	0.17177	1.000000	0.71638	0.999000	0.35428	0.003000	0.05239	0.8009:0.1315:0.0676:0.0	8.514	0.32398	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2088.33	42	chr19	30548873	.	A	G	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=818;ExcessHet=0;FS=11.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.875;SOR=1.173	GT:AD:DP:GQ:PL	0/1:77,75:152:99:2102,0,2054	18	0	1	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1023	424	67	8	566	0.214286	.	.	.	142703	not_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|1:88,56:144:99:0|1:35034035_C_A:2046,0,3506:35034035	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|1:53,58:111:99:0|1:36104523_C_A:1659,0,1447:36104523	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|1:89,24:113:99:0|1:37887093_A_G:364,0,3204:37887093	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|1:90,24:114:99:0|1:37887093_A_G:362,0,3211:37887093	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|1:89,24:113:99:0|1:37887093_A_G:365,0,3177:37887093	4	0	11	4
chr19	38420176	38420176	C	T	exonic	RASGRP4	.	nonsynonymous SNV	RASGRP4:NM_001146202:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146203:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146204:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146205:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146206:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146207:exon5:c.G464A:p.R155Q,RASGRP4:NM_170604:exon5:c.G464A:p.R155Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00291640606771	.	.	5.187e-05	0	0	0	0	9.318e-05	0	0	6.47e-05	10	154602	rs777144681	8.487e-05	8.482e-05	8.035e-05	8.943e-05	9.985e-05	7.212e-05	6.8e-05	8.398e-05	7.894e-05	8.962e-05	8.967e-05	0	2.52e-05	0	0	9.985e-05	6.628e-05	1.161e-05	7.885e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.497e-05	3.512e-05	7.909e-05	5.994e-05	2.413e-05	0	6.543e-05	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.07127	T	0.0	0.02946	B	0.0	0.01387	B	0.748677	0.09718	N	0.880885	0.999996	0.19072	N	-1.355	0.00654	N	1.6	0.28604	T	1.48	0.01051	N	0.078	0.07398	-0.9810	0.34771	T	0.017	0.06759	T	10	0.02298063	0.00589	T	0.002916	0.06162	T	0.029	0.06676	.	.	0.107399877778	0.10242	0.036467448180217014	0.03593	0.323523632181	0.34518	0.239557519555	0.02750	T	0.004856	0.06067	T	-0.491344	0.00639	T	-0.728223	0.04409	T	0.0150679821136439	0.00326	T	0.160884	0.16858	T	0.09885243	0.23320	0.10578535	0.25437	0.09885243	0.23320	0.10578535	0.25436	-2.455	0.12358	T	.	.	0.057	0.02829	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.568277	0.20082	14.58	0.46064531719505653	0.03662	0.00122	0.00764	N	AEFDBI	0.055392	0.10154	N	-1.28463339201206	0.03860	0.1731896	-1.10471383839737	0.07610	0.3708181	0.565295642523925	0.21448	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.34	2.2	0.26966	0.651000	0.24559	1.404000	0.26222	-0.169000	0.11342	0.163000	0.23839	1.000000	0.68203	0.865000	0.41091	0.0:0.1978:0.1794:0.6228	3.990	0.09023	604	0.67577	.;.;.;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	39	chr19	38420176	.	C	T	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.024;SOR=0.632	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1275,0,855	18	0	1	0
chr19	39025499	39025499	T	G	exonic	FBXO27	.	nonsynonymous SNV	FBXO27:NM_178820:exon6:c.A764C:p.H255P	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	.	0.00219649	0.0022	0.0002	0.0008	0	0	0.0012	0.0033	0.0102	0.0019275	298	154602	rs201679838	0.0014	0.0014	0.0010	0.0017	0.0112	0.0013	0.0013	0.0106	0.0103	0.0001	0.0005	0.0001	0	0	0.0064	0.0008	0.0016	0.0112	0.0009	0.0009	0.0007	0.0012	0.0098	0.0008	0.0008	0.0075	0.0068	0.0002	0	0.0009	0	0.0002	0	0.0170	0.0009	0.0024	0.0098	0.006	0.61437	D	0.005	0.72224	D	1.0	0.90584	D	0.986	0.76916	D	0.000026	0.55875	D	0.000000	0.680208	0.33226	D	3.145	0.88303	M	0.82	0.48142	T	-8.19	0.96809	D	0.638	0.65844	-0.1389	0.79192	T	0.308	0.67877	T	10	0.013860136	0.00293	T	.	.	.	0.339	0.66106	.	.	0.734698272752	0.73233	0.8570219179509098	0.85665	1.7763326729	0.91342	0.405652433634	0.25855	T	0.365488	0.73089	T	-0.233725	0.16159	T	-0.0991116	0.63467	T	0.150376725682298	0.17133	T	.	.	.	0.8998425	0.91369	0.75833064	0.85720	0.8998425	0.91370	0.75833064	0.85721	-16.471	0.98385	D	.	.	0.821	0.78581	P	.;.;.	.;.;.	4.209569	0.63584	24.6	0.98710831052415149	0.45054	0.91584	0.53835	D	AEFBI	0.537369	0.55520	D	0.58409716787838	0.72183	5.765593	0.485166500003574	0.67008	5.026692	0.757293656512461	0.23454	0.732398	0.92422	0	0.480063	0.06835	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	4.2	4.2	0.48814	3.274000	0.51334	-3.320000	0.02879	0.605000	0.46263	0.994000	0.38300	0.000000	0.08366	0.832000	0.39227	0.0:0.0:0.0:1.0	9.846	0.40196	592	0.68746	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	1380.33	41	chr19	39025499	.	T	G	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=820;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.119;SOR=1.121	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1394,0,1304	18	0	1	0
chr19	39830764	39830764	A	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon3:c.T83C:p.L28P,DYRK1B:NM_006483:exon3:c.T83C:p.L28P,DYRK1B:NM_006484:exon3:c.T83C:p.L28P	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	422	1070	27	3	0	33	0.0151864	.	.	.	716444	not_provided|not_specified|DYRK1B-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0019	0.00399361	0.0046	0.0003	0.0032	0.0001	0	0.0021	0.0058	0.0237	0.0040038	619	154602	rs34587974	0.0027	0.0027	0.0021	0.0034	0.0218	0.0027	0.0026	0.0210	0.0207	0.0003	0.0021	0.0025	0.0001	0.0002	0.0099	0.0016	0.0027	0.0218	0.0020	0.0020	0.0018	0.0021	0.0201	0.0018	0.0017	0.0168	0.0156	0.0004	0.0263	0.0021	0.0032	0.0004	9.409e-05	0.0136	0.0016	0.0024	0.0201	0.054	0.39820	T	0.211	0.38742	T	0.94	0.56013	P	0.36	0.49647	B	0.004706	0.33466	N	0.218004	0.999998	0.58761	D	1.15	0.29295	L	0.51	0.55775	T	-1.43	0.35194	N	0.321	0.52297	-0.9494	0.41075	T	0.152	0.48118	T	10	0.008390218	0.00190	T	.	.	.	0.086	0.25016	.	.	0.696307968527	0.69369	0.5615938848674867	0.56086	1.76035964692	0.91122	0.632241129875	0.57463	T	0.105355	0.41575	T	-0.347917	0.04860	T	-0.25495	0.49326	T	0.0441409249677052	0.04446	T	.	.	.	0.3156542	0.54271	0.24862657	0.50417	0.31791952	0.54463	0.25629076	0.51325	-2.796	0.08147	T	.	.	0.128	0.30184	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.735697	0.76313	26.5	0.9984869095352803	0.92838	0.97905	0.78016	D	AEFDBHI	0.804091	0.72905	D	0.230180320715182	0.52667	3.439396	0.292507250458728	0.55099	3.673524	0.99999944425382	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.343000	0.59128	.	.	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.545	0.55543	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007568	0.000000	0.002717	0.002924	0.000000	0.008621	0.012195	0.022727	0.05263	2212.83	35	chr19	39830764	.	A	G	2212.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.096;DP=784;ExcessHet=0.119;FS=9.647;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.64;SOR=1.366	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1274,0,1214	17	0	2	0
chr19	39934575	39934575	G	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon1:c.C44A:p.T15N	.	422	1003	93	4	0	101	0.0479355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.0223642	0.0372	0.0020	0.0205	0.1475	0.0089	0.0157	0.0370	0.0700	0.0139131	2151	154602	rs75388508	0.0093	0.0079	0.0075	0.0111	0.0662	0.0091	0.0091	0.0629	0.0615	0.0011	0.0054	0.0024	0.0662	0.0048	0.0356	0.0050	0.0118	0.0539	0.0082	0.0082	0.0068	0.0096	0.0595	0.0078	0.0076	0.0541	0.0519	0.0012	0	0.0061	0.0029	0.0595	0.0045	0.0136	0.0066	0.0109	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	0.615989	0.05728	U	1.308190	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0298	0.20519	T	0.003	0.00961	T	10	0.0021094084	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40049123764	0.25137	T	.	.	.	-0.646098	0.00076	T	-0.652957	0.08748	T	0.0105332991833735	0.00146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.262754	0.28918	17.95	0.90575754460203817	0.19830	0.65483	0.32753	D	AEFDBI	0.111334	0.22046	N	-0.346938018084924	0.27384	1.502045	-0.329407365831129	0.27154	1.504768	0.997071472911191	0.35252	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	0.00765	0.13393	0.736000	0.25798	.	.	-0.106000	0.15538	0.989000	0.36753	1.000000	0.68203	0.885000	0.42453	0.2802:0.1689:0.5508:0.0	4.300	0.10362	589	0.68969	.	PSMC4|FCGBP|ZNF780A|MAP3K10	Artery_Tibial|Cells_Cultured_fibroblasts|Testis|Thyroid	.	.	rs75388508	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034813	0.005102	0.023098	0.023392	0.000000	0.043103	0.051829	0.087121	0.1053	6357.43	33	chr19	39934575	.	G	T	6357.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.559;DP=1038;ExcessHet=0.7564;FS=1.102;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.545;SOR=0.793	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1461,0,1632	15	0	4	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	0|1:4,48:52:24:0|1:40667975_C_T:1898,0,24:40667975	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	0|1:0,48:52:18:1|0:40667975_C_T:2167,168,18:40667975	1	7	11	0
chr19	41433381	41433381	C	T	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167871:exon4:c.G406A:p.D136N,DMAC2:NM_001320839:exon4:c.G424A:p.D142N,DMAC2:NM_001320840:exon4:c.G424A:p.D142N,DMAC2:NM_001320844:exon4:c.G406A:p.D136N,DMAC2:NM_001167867:exon5:c.G505A:p.D169N,DMAC2:NM_018035:exon5:c.G487A:p.D163N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0509085835459	.	.	8.394e-06	0	0	0	0	1.533e-05	0	0	1.29e-05	2	154602	rs782763663	2.054e-05	2.052e-05	2.043e-05	2.064e-05	0.0002	1.457e-05	1.264e-05	2.004e-05	1.227e-05	0	2.236e-05	0	7.558e-05	0	0.0002	2.159e-05	1.657e-05	0	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	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.99959	0.81001	D	.	.	.	0.84	0.47477	T	-4.37	0.77061	D	0.769	0.81758	-0.3040	0.74873	T	0.342	0.70729	T	10	0.6873439	0.71642	D	0.050909	0.64438	D	0.393	0.70844	.	.	0.746941252224	0.74465	0.7598363125267967	0.75931	0.67907236185	0.59917	0.506046056747	0.39670	T	0.194779	0.63346	T	-0.249835	0.14117	T	-0.427519	0.30217	T	0.938859283924103	0.60982	D	0.913709	0.79907	D	0.4958138	0.66848	0.3319799	0.59051	0.4958138	0.66849	0.3319799	0.59050	-8.283	0.62982	D	.	.	0.445	0.64352	A	.;.;.;.;.;.	.;.;.;.;.;.	4.809382	0.78220	26.9	0.99899401238038621	0.97124	0.91934	0.54580	D	AEFDBHCI	0.738858	0.68360	D	0.699882254575542	0.79624	7.117195	0.601626208255365	0.75056	6.243817	0.999999994120601	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.43	4.43	0.52967	4.496000	0.60081	7.478000	0.59226	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.493000	0.28859	0.0:1.0:0.0:0.0	14.416	0.66722	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1366.33	40	chr19	41433381	.	C	T	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=744;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.233;SOR=0.817	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1380,0,1290	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	0/1:138,118:256:99:3015,0,3262	17	0	2	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	194.16	35	chr19	42095395	.	A	G	194.16	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.584;DP=1387;ExcessHet=2.0135;FS=70.383;InbreedingCoeff=-0.1719;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-0.429;SOR=9.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,8:66:3:.:.:3,0,2104:.	13	0	6	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,13:64:99:.:.:126,0,1114:.	9	0	7	3
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005682	0.000000	0.000000	0.004348	0.000000	0.125000	0.000000	0.000000	0.02632	4970.33	34	chr19	43613809	.	C	T	4970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=2576;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.229;SOR=0.827	GT:AD:DP:GQ:PL	0/1:199,193:392:99:4984,0,5156	18	0	1	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	0/1:234,198:432:99:5222,0,6060	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	0/1:49,61:110:99:1592,0,1190	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	0/1:53,63:116:99:1935,0,1387	17	0	2	0
chr19	45145566	45145571	GACTCA	-	exonic	PPP1R37	.	nonframeshift deletion	PPP1R37:NM_019121:exon11:c.1510_1515del:p.S511_D512del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0010	0.0188	0.0125	0	0	0	0	0.0001	0.0001537	4	26028	rs569989734	0.0004	0.0004	0.0005	0.0004	0.0126	0.0004	0.0004	0.0116	0.0111	0.0126	0.0008	0	2.799e-05	0	0.0002	6.675e-05	0.0010	8.838e-05	0.0038	0.0039	0.0042	0.0035	0.0130	0.0036	0.0035	0.0121	0.0117	0.0130	0	0.0022	0	0	0	0	8.83e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1783.29	36	chr19	45145565	.	GGACTCA	G	1783.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.928;DP=747;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.26;ReadPosRankSum=1.68;SOR=0.802	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1797,0,1484	18	0	1	0
chr19	45672868	45672868	C	T	exonic	GIPR	.	nonsynonymous SNV	GIPR:NM_001308418:exon4:c.C190T:p.L64F,GIPR:NM_000164:exon5:c.C298T:p.L100F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0126553452674	0.0015	0.000998403	0.0003	0.0035	0.0003	0	0	0	0	6.056e-05	0.0003234	50	154602	rs150952013	0.0001	0.0001	0.0001	9.64e-05	0.0033	0.0001	9.584e-05	0.0028	0.0026	0.0033	0.0004	0	0	0	0	2.704e-06	0.0006	4.64e-05	0.0011	0.0012	0.0011	0.0012	0.0033	0.0010	0.0010	0.0029	0.0027	0.0033	0	0.0019	0	0	0	0	2.94e-05	0.0024	0	0.638	0.05954	T	0.542	0.09690	T	0.011	0.15914	B	0.015	0.17295	B	0.010225	0.30012	N	0.156370	0.980361	0.25117	N	-0.205	0.04094	N	0.65	0.52642	T	1.69	0.00719	N	0.238	0.26837	-1.0330	0.19490	T	0.027	0.11663	T	10	0.015199989	0.00319	T	0.012655	0.31409	T	0.057	0.16321	.	.	0.316494231283	0.31262	0.4099398032278919	0.40909	0.268628415227	0.29378	0.542260408401	0.44766	T	0.091727	0.38856	T	-0.516123	0.00463	T	-0.514433	0.20860	T	0.00430993583970375	0.00046	T	0.644436	0.26583	T	0.0946636	0.22262	0.064324185	0.12875	0.0946636	0.22262	0.064324185	0.12874	-1.036	0.02917	T	.	.	0.064	0.07889	B	.;.;.	.;.;.	1.444708	0.18651	13.85	0.95286723601434298	0.26589	0.46158	0.27698	N	AEFDBI	0.108265	0.21542	N	-0.594311242550781	0.19115	0.9979886	-0.348005478714782	0.26571	1.468518	0.988201356004967	0.31443	0.719381	0.83141	0	0.723133	0.82719	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.81	3.77	0.42499	1.068000	0.30239	2.482000	0.32945	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.8878:0.0:0.1122	8.045	0.29703	851	0.35303	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor 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	1002.33	34	chr19	45672868	.	C	T	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.322;DP=702;ExcessHet=0;FS=4.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.25;SOR=0.375	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1016,0,1091	18	0	1	0
chr19	46008270	46008270	C	T	exonic	CCDC61	.	nonsynonymous SNV	CCDC61:NM_001267723:exon5:c.C520T:p.R174W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0135053239234	0.0013	0.000399361	0.0003	0.0038	0.0002	0	0	1.611e-05	0	0.0001	0.0002587	40	154602	rs200177760	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0031	0.0029	0.0037	0.0001	0	0	0	0.0002	4.128e-06	0.0007	0.0002	0.0010	0.0010	0.0010	0.0010	0.0035	0.0008	0.0008	0.0030	0.0028	0.0035	0	0.0001	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.968	0.71741	D	0.007586	0.31308	N	0.333473	0.99992	0.21555	N	2.175	0.60977	M	.	.	.	-2.7	0.57599	D	0.714	0.71676	-0.9287	0.44328	T	0.194	0.54696	T	9	0.029765964	0.01103	T	0.013505	0.32951	T	0.084	0.24469	.	.	0.598713980857	0.59551	0.4968982672816223	0.49610	0.950285891305	0.72592	0.674533903599	0.63485	T	0.092637	0.39045	T	-0.265096	0.12308	T	-0.155674	0.58738	T	0.100245355202728	0.12384	T	0.904909	0.66542	D	0.082344376	0.18965	0.05067159	0.08000	0.082344376	0.18964	0.05067159	0.07999	-5.574	0.59257	T	.	.	0.129	0.39965	B	.;.;.	.;.;.	3.904894	0.56908	23.8	0.99902633116955042	0.97426	0.33110	0.24749	N	AEFDBI	0.177984	0.30524	N	0.310542205679727	0.56689	3.834054	0.193787297630666	0.49506	3.152944	0.0101310941854686	0.11972	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.06	4.06	0.46572	1.161000	0.31384	0.535000	0.19282	0.599000	0.40250	0.804000	0.29773	0.086000	0.22461	0.676000	0.33425	0.2126:0.7874:0.0:0.0	9.409	0.37645	674	0.60593	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1321.71	33	chr19	46008270	.	C	T	1321.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.015;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.049;SOR=0.626	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1335,0,1064	17	0	1	1
chr19	46230490	46230490	G	T	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.G296T:p.R99L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000234440886169	0.0013	0.000599042	0.0004	0.0042	0.0002	0	0	1.502e-05	0	6.058e-05	0.0003105	48	154602	rs201091324	0.0001	0.0001	0.0001	9.765e-05	0.0036	0.0001	9.768e-05	0.0031	0.0029	0.0036	6.708e-05	0	0	0	0.0003	5.396e-06	0.0006	8.115e-05	0.0011	0.0011	0.0011	0.0010	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	0.0002	0	0	0	0	1.47e-05	0.0005	0	0.627	0.05198	T	0.092	0.39954	T	0.0	0.02946	B	0.0	0.01387	B	0.375121	0.04386	N	1.576670	1	0.08975	N	-0.69	0.01958	N	1.85	0.24472	T	-0.17	0.09627	N	0.127	0.12055	-1.0434	0.16294	T	0.020	0.08546	T	10	0.003934264	0.00075	T	2.34E-4	0.00007	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.271916153789735	0.27104	0.0930429188605	0.10513	0.299304872751	0.10297	T	0.002174	0.01575	T	-0.690249	0.00042	T	-0.764552	0.02952	T	0.0102405668706136	0.00139	T	0.223978	0.02912	T	0.03826007	0.05063	0.040347856	0.04339	0.03826007	0.05063	0.040347856	0.04339	-2.759	0.07812	T	.	.	0.076	0.05800	B	.	.	-2.347474	0.00046	0.001	0.4528290730427772	0.03543	0.00032	0.00291	N	AEFDBI	.	.	.	-2.5681704222279	0.00011	0.0004796399	-2.63889910930559	0.00011	0.0004869003	0.999999992265923	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.61	-5.21	0.02600	-4.793000	0.00215	-8.414000	0.00974	-1.315000	0.01231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4038:0.1521:0.2025:0.2416	0.581	0.00665	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1910.33	33	chr19	46230490	.	G	T	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=805;ExcessHet=0;FS=2.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.12;SOR=0.52	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1924,0,1568	18	0	1	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	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	0.034557	0.024691	0.022535	0.041935	0.000000	0.028302	0.033333	0.064885	0.07895	2181.79	33	chr19	47754612	.	C	T	2181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.083;SOR=0.697	GT:AD:DP:GQ:PL	0/1:28,23:51:99:688,0,672	16	0	3	0
chr19	48286199	48286202	AAAC	-	exonic	ZNF114	.	frameshift deletion	ZNF114:NM_001331097:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_001331098:exon6:c.713_716del:p.T239Sfs*2,ZNF114:NM_001369811:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_001369812:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_153608:exon6:c.575_578del:p.T193Sfs*2	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs749797736	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1981.29	34	chr19	48286198	.	AAAAC	A	1981.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-2.522;SOR=0.667	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1995,0,3047	18	0	1	0
chr19	48609904	48609904	C	T	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon5:c.G730A:p.G244S	.	359	1130	29	4	0	37	0.016108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0033	0.00419329	0.0061	0.0007	0.0013	0.0001	0.0028	0.0059	0.0024	0.0174	0.0054462	842	154602	rs187118641	0.0053	0.0053	0.0047	0.0058	0.0172	0.0052	0.0051	0.0165	0.0162	0.0006	0.0017	0.0046	0.0001	0.0045	0.0071	0.0049	0.0049	0.0172	0.0039	0.0040	0.0037	0.0042	0.0155	0.0037	0.0036	0.0127	0.0117	0.0008	0.0055	0.0036	0.0049	0.0002	0.0045	0.0068	0.0052	0.0043	0.0155	0.161	0.23631	T	0.076	0.42614	T	1.0	0.90584	D	0.999	0.92359	D	0.017654	0.27670	N	0.300998	0.760859	0.29540	N	3.3	0.90472	M	1.65	0.27650	T	-5.8	0.88148	D	0.364	0.40565	-0.8043	0.54891	T	0.138	0.45470	T	10	0.006817043	0.00155	T	.	.	.	0.114	0.32008	.	.	0.488125499135	0.48444	0.8026583632470039	0.80219	0.734570363293	0.62906	0.554340898991	0.46469	T	0.06845	0.33461	T	-0.484359	0.00698	T	-0.454244	0.27229	T	0.0708991474727543	0.08777	T	0.618038	0.23687	T	0.23711321	0.46570	0.27551672	0.53489	0.23711321	0.46570	0.27551672	0.53488	-7.419	0.57038	T	.	.	0.105	0.19398	B	.	.	3.713516	0.53031	23.3	0.9978864881660926	0.87484	0.90985	0.52637	D	AEFDGBI	0.492396	0.52905	N	0.466111255610247	0.65125	4.783068	0.350162004318761	0.58516	4.022677	0.999984587754174	0.51787	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	4.28	3.23	0.36150	2.002000	0.40454	2.598000	0.33506	0.599000	0.40250	0.861000	0.30630	0.447000	0.24933	0.992000	0.67800	0.0:0.8884:0.0:0.1116	8.497	0.32297	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.006793	0.005882	0.000000	0.025862	0.006098	0.011364	0.02632	1704.33	36	chr19	48609904	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=791;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.148;SOR=0.816	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1718,0,1831	18	0	1	0
chr19	48629417	48629417	G	T	exonic	SPHK2	.	nonsynonymous SNV	SPHK2:NM_001204160:exon6:c.G1501T:p.D501Y,SPHK2:NM_001243876:exon6:c.G991T:p.D331Y,SPHK2:NM_001204158:exon7:c.G1432T:p.D478Y,SPHK2:NM_001204159:exon7:c.G1609T:p.D537Y,SPHK2:NM_020126:exon7:c.G1609T:p.D537Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0432772371253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.000016	0.62929	D	0.111739	0.968169	0.81001	D	2.15	0.60148	M	2.26	0.17596	T	-5.91	0.88904	D	0.66	0.70878	-1.0524	0.13736	T	0.091	0.34901	T	10	0.7211296	0.73669	D	0.043277	0.60900	D	0.274	0.59007	0.532	0.64002	0.619116397592	0.61603	0.8128343452243554	0.81239	1.38304833559	0.84824	0.518513083458	0.41417	T	0.651146	0.89416	D	0.123029	0.66675	D	-0.0610541	0.66259	T	0.989843606948853	0.80064	D	0.971803	0.91565	D	0.49548724	0.66829	0.33312428	0.59153	0.49548724	0.66830	0.33312428	0.59152	-11.828	0.84231	D	.	.	0.366	0.67157	A	.;.;.;.;.;.	.;.;.;.;.;.	4.434887	0.68801	25.3	0.99282071386237958	0.57938	0.92795	0.56564	D	AEFDBHCI	0.753571	0.69372	D	0.581696188385661	0.72033	5.742454	0.507807085683291	0.68515	5.230663	0.999999999961857	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.592323	0.36904	0	.	.	4.5	4.5	0.54382	6.261000	0.72470	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.1039:0.0:0.8961:0.0	8.641	0.33136	707	0.57054	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1415.33	34	chr19	48629417	.	G	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.264;DP=778;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.885;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1429,0,1461	18	0	1	0
chr19	49035741	49035741	G	C	exonic	CGB1	.	nonsynonymous SNV	CGB1:NM_001382421:exon3:c.C301G:p.R101G,CGB1:NM_033377:exon3:c.C337G:p.R113G	.	55	1466	1	0	0	1	0.000340948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0203683247546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.031	0.53788	D	0.997	0.70673	D	0.944	0.68059	D	0.004191	0.34013	N	0.297707	0.999997	0.08975	N	.	.	.	0.38	0.57575	T	-2.59	0.55821	D	0.23	0.25867	-0.8658	0.50842	T	0.242	0.61000	T	9	0.33660892	0.50797	T	0.020368	0.42951	T	0.122	0.33800	0.482	0.56302	0.523702305895	0.52015	0.10488492193737634	0.10418	2.60909197159	0.98228	0.674881100655	0.63535	T	.	.	.	-0.123678	0.32523	T	-0.415432	0.31599	T	0.929547131061554	0.59367	D	0.956904	0.86318	D	.	.	.	.	.	.	.	.	-5.527	0.42120	T	.	.	0.274	0.50736	B	.;.	.;.	3.664779	0.52079	23.2	0.96665419816557197	0.30643	0.51446	0.28897	D	AEFI	0.140994	0.26305	N	-0.148833590792985	0.35283	2.024725	-0.374547738087384	0.25758	1.418508	1.22592796924734E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.8	0.688	0.17190	2.258000	0.42905	6.650000	0.56213	0.340000	0.19754	0.993000	0.37899	1.000000	0.68203	0.032000	0.13371	0.0:0.0:0.666:0.334	5.375	0.15462	774	0.48577	.;Glycoprotein hormone subunit beta|Gonadotropin, beta subunit, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	161.33	35	chr19	49035741	.	G	C	161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.382;DP=585;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.85;MQRankSum=1.16;QD=6.72;ReadPosRankSum=-0.735;SOR=0.859	GT:AD:DP:GQ:PL	0/1:16,8:24:99:175,0,467	18	0	1	0
chr19	52511499	52511499	G	A	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.G1118A:p.C373Y,ZNF578:NM_001366182:exon6:c.G1118A:p.C373Y	.	401	1099	20	2	0	24	0.0108011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.00648032460964	0.0066	0.00279553	0.0051	0.0007	0.0048	0	0.0021	0.0077	0.0066	0.0010	0.0050129	775	154602	rs61739625	0.0059	0.0059	0.0061	0.0058	0.0151	0.0058	0.0058	0.0125	0.0116	0.0010	0.0060	0.0077	2.52e-05	0.0026	0.0151	0.0067	0.0065	0.0012	0.0050	0.0050	0.0051	0.0049	0.0076	0.0047	0.0046	0.0071	0.0068	0.0011	0	0.0071	0.0069	0	0.0031	0.0068	0.0076	0.0118	0.0002	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.78334	0.29308	N	3.765	0.95136	H	-1.94	0.84919	D	.	.	.	0.124	0.11626	-0.2875	0.75334	T	0.412	0.76034	T	7	0.0049572885	0.00106	T	0.00648	0.17072	T	.	.	.	.	0.511105228888	0.50752	0.12709765561083033	0.12635	0.184370431722	0.20736	.	.	.	0.335828	0.70541	T	-0.307401	0.07979	T	-0.209209	0.53771	T	0.0778360219089476	0.09707	T	0.358764	0.08201	T	0.75347954	0.81070	0.6179076	0.77751	0.75347954	0.81072	0.6179076	0.77752	-10.833	0.78734	D	.	.	0.764	0.75643	P	.	.	2.600484	0.33751	19.43	0.94695546829914379	0.25343	0.96828	0.71158	D	AEFBI	0.609831	0.59889	D	0.303026770798373	0.56304	3.794896	-0.0042566772121187	0.39524	2.344654	0.389152783431423	0.20030	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	4.772000	0.62019	.	.	0.548000	0.25860	0.999000	0.42656	0.000000	0.08366	0.163000	0.20749	0.0:0.0:1.0:0.0	10.046	0.41359	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	0.011628	0.020202	0.013587	0.004098	0.000000	0.017241	0.012195	0.007576	0.02632	6021.33	163	chr19	52511499	.	G	A	6021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.018;DP=2542;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=-0.896;QD=19.74;ReadPosRankSum=0.364;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,168:305:99:0|1:52511499_G_A:6035,0,4841:52511499	18	0	1	0
chr19	53810950	53810950	C	T	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.G709A:p.G237R,NLRP12:NM_001277129:exon3:c.G709A:p.G237R,NLRP12:NM_144687:exon3:c.G709A:p.G237R	Familial cold autoinflammatory syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2017995	Familial_cold_autoinflammatory_syndrome_2	MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.0393653331451	7.7e-05	.	1.651e-05	0	0	0	0	1.502e-05	0	6.058e-05	1.29e-05	2	154602	rs373956169	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0.0002	8.993e-06	3.312e-05	1.159e-05	2.629e-05	2.626e-05	2.569e-05	2.691e-05	7.236e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.068	0.46406	T	1.0	0.90584	D	0.998	0.88582	D	0.000490	0.43931	D	0.000000	0.99885	0.45564	D	3.24	0.89678	M	-1.42	0.80645	T	-7.43	0.95511	D	0.347	0.46368	0.548	0.91211	D	0.689	0.89254	D	10	0.53359777	0.63322	D	0.039365	0.58768	D	0.667	0.87625	0.894	0.97506	0.89892325808	0.89792	0.5702165216994459	0.56949	0.286913229122	0.31092	0.493502557278	0.37925	T	0.654886	0.89571	D	0.0805498	0.62105	D	0.0594557	0.74209	D	0.991727828979492	0.82061	D	0.788521	0.42806	T	0.7677641	0.81914	0.7407909	0.84678	0.7677641	0.81915	0.7407909	0.84679	-8.315	0.63491	D	.	.	0.188	0.42317	B	.;.;.;.;.	.;.;.;.;.	3.461207	0.48238	22.6	0.99922812344023137	0.98852	0.49081	0.28352	N	AEFBI	0.374980	0.45968	N	0.368933019020876	0.59745	4.156629	0.216997771962977	0.50788	3.267423	0.99998010130845	0.51787	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	2.602000	0.45921	.	.	-0.253000	0.07101	0.084000	0.22438	0.001000	0.17328	0.971000	0.54645	0.0:1.0:0.0:0.0	14.581	0.67886	994	0.00715	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	2285.33	46	chr19	53810950	.	C	T	2285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=1194;ExcessHet=0;FS=4.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.406;SOR=0.963	GT:AD:DP:GQ:PL	0/1:118,86:204:99:2299,0,2924	18	0	1	0
chr19	54074944	54074944	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G241A:p.E81K,TARM1:NM_001330650:exon3:c.G265A:p.E89K	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0002	0.00239617	0.0037	0	0	0	0	0.0001	0.0053	0.0090	0.0006598	102	154602	rs2361558	0.0010	0.0010	0.0008	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	0.0001	0.0002	0	0.0002	6.088e-05	0.0037	0.0005	0.0009	0.0092	0.0007	0.0007	0.0006	0.0008	0.0106	0.0006	0.0005	0.0083	0.0075	0.0002	0	0.0002	0.0003	0.0008	0	0	0.0004	0.0019	0.0106	0.331	0.13088	T	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.44	0.53420	N	0.114	0.10198	-0.8948	0.48502	T	0.002	0.00769	T	9	0.00880295	0.00199	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.42401353879973813	0.42318	.	.	0.301901340485	0.10684	T	.	.	.	-0.642795	0.00080	T	-0.690275	0.06373	T	0.00751033893248963	0.00087	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41495	B	.;.	.;.	0.687277	0.10558	7.267	0.86566229100844183	0.16622	0.03546	0.08744	N	AEFBI	0.037680	0.05218	N	-1.41366592332775	0.02518	0.1113028	-1.45502494045766	0.02725	0.1258528	1.67188451860623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	0.242	0.14759	-0.482000	0.06623	.	.	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6639:0.0:0.3361	6.107	0.19301	994	0.00715	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	.	.	.	.	.	.	.	.	0.02632	1083.33	44	chr19	54074944	.	C	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.807;SOR=0.64	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1097,0,1017	18	0	1	0
chr19	54148193	54148193	C	T	exonic	CNOT3	.	nonsynonymous SNV	CNOT3:NM_014516:exon11:c.C940T:p.P314S	.	389	1119	13	1	0	15	0.00665779	.	.	YES	1628653	CNOT3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0222096333131	0.0037	0.00159744	0.0054	0.0025	0.0019	0	0.0027	0.0074	0.0033	0.0048	0.0026132	404	154602	rs138658963	0.0052	0.0052	0.0053	0.0052	0.0073	0.0051	0.0051	0.0059	0.0058	0.0009	0.0015	0.0054	0	0.0005	0.0073	0.0060	0.0046	0.0036	0.0032	0.0032	0.0035	0.0029	0.0051	0.0030	0.0029	0.0047	0.0045	0.0013	0.0110	0.0024	0.0046	0.0002	0.0002	0.0034	0.0051	0.0019	0.0039	0.036	0.43393	D	0.471	0.13365	T	0.002	0.12183	B	0.001	0.06944	B	0.000008	0.62929	N	0.065721	0.76438	0.29505	N	1.5	0.37844	L	0.86	0.46777	T	-1.19	0.30346	N	0.069	0.10769	-1.0342	0.19109	T	0.083	0.32700	T	10	0.005390525	0.00118	T	0.02221	0.45075	T	0.102	0.29158	.	.	0.174091166621	0.17034	0.1930465750432004	0.19222	.	.	0.463683694601	0.33816	T	0.03755	0.24515	T	-0.539018	0.00340	T	-0.544704	0.17838	T	0.00815008209077879	0.00097	T	0.764923	0.39255	T	0.119813405	0.28204	0.09031037	0.21169	0.090688154	0.21227	0.08712826	0.20231	-2.948	0.09632	T	.	.	0.057	0.01215	B	.;.;.;.;.	.;.;.;.;.	2.464388	0.31755	18.84	0.99792661509484726	0.87839	0.82064	0.41350	D	AEFBCI	0.264509	0.38183	N	-0.668929099185233	0.16911	0.8657512	-0.514100595594397	0.21770	1.179267	0.219984158388403	0.18344	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.43	2.39	0.28492	1.233000	0.32250	.	.	-0.319000	0.05888	0.488000	0.26863	0.978000	0.30204	0.994000	0.71098	0.0:0.8945:0.0:0.1055	9.885	0.40424	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	1	0	0	0	0	1	0	0.004545	0.000000	0.004076	0.008772	0.000000	0.017241	0.000000	0.007576	0.02632	1128.33	36	chr19	54148193	.	C	T	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.28;SOR=0.741	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1142,0,1423	18	0	1	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	0/1:487,56:543:52:52,0,15785	8	0	11	0
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D	.	472	988	53	9	0	71	0.0346849	.	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	196.84	76	chr19	54752248	.	A	G	196.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=898;ExcessHet=0.119;FS=12.7;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=39.49;MQRankSum=-1.282;QD=28.12;ReadPosRankSum=-1.282;SOR=3.912	GT:AD:DP:GQ:PL	0/1:4,1:5:30:30,0,155	17	0	2	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2288,246,0	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2125,230,0	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,72:72:99:1|1:54752445_C_T:3221,217,0:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:54752482_T_C:2066,138,0:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:87:1|1:54752511_G_A:1246,87,0:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,22:202:99:0|1:54760643_A_G:382,0,7319:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,24:206:99:0|1:54760643_A_G:460,0,7546:54760643	10	0	9	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	2922.43	425	chr19	54760659	.	G	A	2922.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.983;DP=3060;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=53.4;MQRankSum=-4.823;QD=2.4;ReadPosRankSum=0.781;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,24:208:99:0|1:54760643_A_G:454,0,7654:54760643	15	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,26:208:99:0|1:54760643_A_G:544,0,7564:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,26:204:99:0|1:54760643_A_G:556,0,7396:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,26:194:99:0|1:54760643_A_G:586,0,6973:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:99:0|1:54760643_A_G:604,0,6721:54760643	10	0	9	0
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs,KIR2DL1:NM_014218:exon4:c.488delA:p.E163fs,KIR2DS1:NM_014512:exon4:c.488delA:p.E165Rfs*83,KIR2DS5:NM_014513:exon4:c.488delA:p.E163fs	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	436.29	378	chr19	54775281	.	GA	G	436.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.284;DP=5707;ExcessHet=0;FS=10.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.7;MQRankSum=-7.388;QD=1.46;ReadPosRankSum=-0.847;SOR=1.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,30:299:99:0|1:54775281_GA_G:450,0,11060:54775281	18	0	1	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs,KIR2DL1:NM_014218:exon4:c.495dupG:p.E165fs,KIR2DS1:NM_014512:exon4:c.495dupG:p.A166Gfs*3,KIR2DS5:NM_014513:exon4:c.495dupG:p.E165fs	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	476.1	378	chr19	54775288	.	A	AG	476.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.059;DP=5762;ExcessHet=0;FS=10.934;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=54.71;MQRankSum=-7.452;QD=1.66;ReadPosRankSum=0.009;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,30:286:99:0|1:54775281_GA_G:489,0,10601:54775281	16	0	1	2
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P,KIR2DL1:NM_014218:exon4:c.G506C:p.R169P,KIR2DS1:NM_014512:exon4:c.G506C:p.R169P,KIR2DS5:NM_014513:exon4:c.G506C:p.R169P	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	655.14	378	chr19	54775300	.	G	C	655.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.078;DP=5758;ExcessHet=0;FS=8.514;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=55.1;MQRankSum=-8.018;QD=2.41;ReadPosRankSum=1.78;SOR=1.376	GT:AD:DP:GQ:PL	0/1:239,33:272:99:668,0,7435	16	0	1	2
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D,KIR2DL1:NM_014218:exon4:c.A532G:p.N178D,KIR2DS1:NM_014512:exon4:c.A532G:p.N178D,KIR2DS5:NM_014513:exon4:c.A532G:p.N178D	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	387	chr19	54775326	.	A	G	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.87;DP=5799;ExcessHet=0;FS=8.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.51;MQRankSum=-8.159;QD=2.89;ReadPosRankSum=4.05;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,34:257:99:0|1:54775321_A_G:756,0,9221:54775321	18	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T,KIR2DL1:NM_014218:exon4:c.G590C:p.R197T,KIR2DS1:NM_014512:exon4:c.G590C:p.R197T,KIR2DS5:NM_014513:exon4:c.G590C:p.R197T	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	872.33	401	chr19	54775384	.	G	C	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=4809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.73;MQRankSum=-6.151;QD=3.81;ReadPosRankSum=-0.905;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,35:229:99:0|1:54775384_G_C:886,0,7960:54775384	18	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S,KIR2DL1:NM_014218:exon4:c.G598A:p.G200S,KIR2DS1:NM_014512:exon4:c.G598A:p.G200S,KIR2DS5:NM_014513:exon4:c.G598A:p.G200S	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001615	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05263	4807.83	401	chr19	54775392	.	G	A	4807.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=4827;ExcessHet=0.119;FS=4.697;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.07;MQRankSum=-6.235;QD=9.25;ReadPosRankSum=-1.182;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,34:224:99:0|1:54775384_G_C:856,0,7855:54775384	17	0	2	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L,KIR2DL1:NM_014218:exon4:c.T604C:p.F202L,KIR2DS1:NM_014512:exon4:c.T604C:p.F202L,KIR2DS5:NM_014513:exon4:c.T604C:p.F202L	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	665.39	401	chr19	54775398	.	T	C	665.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=4555;ExcessHet=0;FS=1.3;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=54.91;MQRankSum=-6.201;QD=2.98;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,30:223:99:0|1:54775384_G_C:679,0,7967:54775384	18	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,23:218:99:0|1:54775409_T_A:379,0,8119:54775409	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,21:213:99:0|1:54775409_T_A:304,0,7999:54775409	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,19:210:99:0|1:54775409_T_A:223,0,7963:54775409	12	0	7	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2377.43	34	chr19	54804943	.	G	A	2377.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.26;DP=2260;ExcessHet=0.7564;FS=9.528;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.51;MQRankSum=-15.36;QD=2.1;ReadPosRankSum=-3.066;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:244,21:265:99:.:.:113,0,6832:.	15	0	4	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,25:272:99:0|1:54804956_C_G:286,0,10235:54804956	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,26:273:99:0|1:54804956_C_G:348,0,10273:54804956	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,25:271:99:0|1:54804956_C_G:309,0,10228:54804956	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,25:269:99:0|1:54804956_C_G:315,0,10144:54804956	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,39:299:99:0|1:54805010_A_G:855,0,10695:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,39:298:99:0|1:54805010_A_G:858,0,10705:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,44:299:99:0|1:54805010_A_G:1076,0,10487:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,49:293:99:0|1:54805010_A_G:1261,0,9938:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,54:275:99:0|1:54805068_A_G:1522,0,8731:54805068	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,24:275:99:0|1:54805940_TCTC_T:252,0,10467:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,26:281:99:0|1:54805940_TCTC_T:324,0,10629:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,35:311:99:0|1:54805940_TCTC_T:635,0,11403:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,40:327:99:0|1:54805940_TCTC_T:762,0,11598:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,56:413:99:0|1:54806034_C_A:1267,0,14801:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,56:417:99:0|1:54806034_C_A:1255,0,14969:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,55:435:99:0|1:54806034_C_A:1166,0,15791:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,50:440:99:0|1:54806034_C_A:926,0,16226:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,50:437:99:0|1:54806034_C_A:935,0,16100:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,49:432:99:0|1:54806034_C_A:905,0,15935:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:392,47:439:99:0|1:54806034_C_A:794,0,16319:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,44:437:99:0|1:54806034_C_A:665,0,16370:54806034	13	0	6	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,50:464:99:0|1:54808838_C_T:853,0,17180:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,57:491:99:0|1:54808838_C_T:1087,0,18014:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:430,58:488:99:0|1:54808838_C_T:1141,0,17843:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:416,68:484:99:1608,0,11725	10	0	9	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,37:344:99:0|1:54855608_TCTC_T:630,0,12780:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,37:348:99:0|1:54855608_TCTC_T:618,0,12864:54855608	10	0	9	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,32:213:99:0|1:54865794_T_C:799,0,7504:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,33:221:99:0|1:54865794_T_C:820,0,7795:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,39:227:99:0|1:54865794_T_C:1072,0,7777:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,39:227:99:0|1:54865794_T_C:1072,0,7777:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,39:226:99:0|1:54865794_T_C:1075,0,7735:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,36:221:99:0|1:54865794_T_C:955,0,7660:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,38:216:99:0|1:54865794_T_C:1060,0,7360:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,36:215:99:0|1:54865794_T_C:973,0,7347:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,33:210:99:0|1:54865794_T_C:853,0,7252:54865794	10	0	9	0
chr19	55313023	55313023	C	T	exonic	TMEM150B	.	nonsynonymous SNV	TMEM150B:NM_001085488:exon8:c.G538A:p.V180I,TMEM150B:NM_001282011:exon8:c.G538A:p.V180I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0080822975588	.	.	9.538e-06	0	0	0	0	1.706e-05	0	0	6.5e-06	1	154602	rs756208873	1.711e-05	1.71e-05	2.043e-05	1.376e-05	5.978e-05	1.175e-05	9.93e-06	1.378e-05	1.151e-05	5.978e-05	0	0	0	0	0	2.069e-05	0	0	1.971e-05	2.626e-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	0.466	0.08584	T	0.163	0.31125	T	0.133	0.27236	B	0.016	0.17743	B	0.005420	0.32823	N	0.285709	1	0.08975	N	0.55	0.14455	N	1.0	0.41392	T	-0.67	0.19297	N	0.062	0.03392	-1.0392	0.17556	T	0.055	0.23338	T	10	0.1254301	0.23835	T	0.008082	0.21418	T	0.073	0.21317	.	.	0.0138822411134	0.00435	0.18366527815162312	0.18285	0.081474705292	0.09168	0.409936249256	0.26448	T	0.197594	0.55431	T	-0.308469	0.07884	T	-0.665385	0.07908	T	0.0476846461483544	0.05087	T	0.509849	0.16238	T	0.034435716	0.03864	0.030522548	0.01519	0.034435716	0.03864	0.030522548	0.01519	-5.736	0.44013	T	.	.	0.086	0.10835	B	.;.	.;.	0.863074	0.12354	8.894	0.87091960990202832	0.16982	0.09453	0.15205	N	AEFGBCI	0.112479	0.22231	N	-0.891673105247672	0.11039	0.5306478	-0.875079348744234	0.12686	0.6540027	0.906242844687713	0.26226	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.55	3.51	0.39297	1.230000	0.32214	-0.536000	0.08609	-0.252000	0.07121	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	0.0:0.8933:0.0:0.1067	9.064	0.35614	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1094.33	35	chr19	55313023	.	C	T	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=835;ExcessHet=0;FS=2.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.578;SOR=0.963	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1108,0,1739	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	1/1:0,72:72:99:.:.:3197,224,0:.	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	1/1:0,72:72:99:.:.:3197,224,0:.	0	15	4	0
chr19	56191870	56191870	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.G568A:p.A190T,ZSCAN5B:NM_001385638:exon3:c.G568A:p.A190T	.	426	1092	4	0	0	4	0.00182815	.	.	.	3421077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000522994835994	.	.	0.0001	0	0	0	0	7.581e-05	0	0.0005	9.06e-05	14	154602	rs757976812	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0016	4.059e-05	3.734e-05	0.0008	0.0006	0	8.944e-05	3.826e-05	7.557e-05	0	0.0016	1.979e-05	0.0001	0.0003	5.26e-05	5.254e-05	5.142e-05	5.382e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	2.415e-05	0	6.549e-05	0	0.0002	0	0.0032	5.881e-05	0	0	0.501	0.07720	T	0.734	0.05090	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.21	0.04776	N	0.105	0.08925	-0.9716	0.36862	T	0.006	0.01870	T	9	0.028461218	0.00978	T	5.23E-4	0.00174	T	0.020	0.03691	0.384	0.40298	0.0482279557977	0.04254	0.03744932293745089	0.03690	0.0130179826969	0.01253	0.31578502059	0.12783	T	0.003761	0.03171	T	-0.673305	0.00053	T	-0.900385	0.00500	T	0.0124382818815172	0.00204	T	0.269973	0.04523	T	0.026911257	0.01810	0.048033446	0.07048	0.026911257	0.01809	0.048033446	0.07048	-3.598	0.17828	T	.	.	0.178	0.40889	B	.;.	.;.	-1.006235	0.00762	0.024	0.77052528778526319	0.11717	0.00072	0.00504	N	AEFBI	0.018723	0.00590	N	-1.96066572043616	0.00257	0.01100672	-2.03682902796366	0.00256	0.01127441	0.00102754490975278	0.08137	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-3.81	0.04013	-2.429000	0.01101	.	.	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1407:0.3668:0.2783:0.2142	1.615	0.02538	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1757.33	34	chr19	56191870	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.164;DP=750;ExcessHet=0;FS=9.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.303;SOR=0.255	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1771,0,1649	18	0	1	0
chr19	56555274	56555274	A	G	exonic	ZFP28	.	nonsynonymous SNV	ZFP28:NM_020828:exon8:c.A2489G:p.H830R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00308118914627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.02712	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	0.047834	0.23307	N	0.217670	1	0.08975	N	-1.565	0.00454	N	1.78	0.25678	T	-2.0	0.46146	N	0.099	0.08088	-0.9438	0.42009	T	0.010	0.03765	T	10	0.035932243	0.01866	T	0.003081	0.06666	T	0.076	0.22200	0.198	0.11110	0.112648838833	0.10856	0.04586200657798249	0.04530	0.218615771125	0.24401	0.319124221802	0.13289	T	0.038584	0.24892	T	-0.312535	0.07527	T	-0.686711	0.06581	T	0.0545217227998171	0.06277	T	0.40156	0.10241	T	0.10827515	0.25600	0.069918394	0.14791	0.10827515	0.25600	0.069918394	0.14790	-2.105	0.03605	T	.	.	0.096	0.15385	B	.	.	1.869017	0.23742	16.13	0.90446764327151541	0.19706	0.04562	0.10204	N	AEFBI	0.040369	0.05994	N	-1.17088378508599	0.05445	0.2482461	-1.01005541610201	0.09564	0.4765148	2.47600338644194E-4	0.06141	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.55	0.068	0.13680	-0.640000	0.05537	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.5083:0.0:0.3135:0.1782	3.298	0.06563	988	0.01987	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	2339.33	77	chr19	56555274	.	A	G	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.636;DP=1212;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.047;SOR=0.671	GT:AD:DP:GQ:PL	0/1:85,96:181:99:2353,0,2179	18	0	1	0
chr19	56824507	56824507	C	T	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001146184:exon3:c.G149A:p.R50Q,PEG3:NM_001369717:exon3:c.G149A:p.R50Q,PEG3:NM_001369718:exon4:c.G149A:p.R50Q,PEG3:NM_001369719:exon4:c.G149A:p.R50Q,PEG3:NM_006210:exon4:c.G149A:p.R50Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00324195194774	7.7e-05	0.00179712	0.0004	9.614e-05	0	0.0038	0	0.0001	0	0.0007	0.000414	64	154602	rs117930727	0.0005	0.0005	0.0005	0.0005	0.0124	0.0004	0.0004	0.0115	0.0111	2.987e-05	2.236e-05	0.0010	0.0124	0	0.0003	7.914e-05	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0080	0.0003	0.0002	0.0060	0.0054	2.408e-05	0	0.0001	0.0009	0.0080	0	0	4.41e-05	0	0.0004	0.073	0.34800	T	0.0	0.92824	D	0.086	0.24919	B	0.017	0.18140	B	0.037504	0.24394	N	0.206490	.	.	.	2.41	0.69639	M	3.18	0.07478	T	-0.77	0.21429	N	0.534	0.56231	-1.0984	0.04290	T	0.022	0.09559	T	9	0.010417908	0.00232	T	0.003242	0.07147	T	0.155	0.40530	.	.	0.641104024009	0.63814	.	.	0.129522306516	0.14600	0.237110957503	0.02536	T	0.213535	0.57488	T	-0.498336	0.00584	T	-0.486959	0.23710	T	0.0323472719023849	0.02362	T	0.610839	0.23175	T	0.14285591	0.32858	0.12095921	0.29188	0.14285591	0.32858	0.12095921	0.29188	-7.305	0.56231	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	3.558013	0.50049	22.9	0.99900515884394492	0.97275	0.61950	0.31635	D	AEFDBCI	0.366525	0.45431	N	-0.0474406697259061	0.39717	2.346671	0.0263103602980623	0.40939	2.451433	0.142707853183081	0.17303	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.88	3.85	0.43556	1.854000	0.39008	.	.	-0.177000	0.10537	0.369000	0.25916	0.796000	0.26906	0.971000	0.54645	0.0:0.9007:0.0:0.0993	9.612	0.38833	975	0.05339	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN 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	0.001037	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3186.83	33	chr19	56824507	.	C	T	3186.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=804;ExcessHet=0.119;FS=1.712;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.078;SOR=0.846	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1971,0,1070	17	0	2	0
chr19	57942098	57942098	C	T	exonic	ZNF256	.	nonsynonymous SNV	ZNF256:NM_001375403:exon2:c.G251A:p.R84K,ZNF256:NM_005773:exon3:c.G710A:p.R237K	.	420	1097	5	0	0	5	0.00227376	.	.	.	3350483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00438638192965	0.0002	.	0.0001	0	0.0003	0	0	0.0001	0.0011	0	9.7e-05	15	154602	rs376236226	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	9.966e-05	0.0006	0.0004	0	8.944e-05	0	0	0	0.0012	0.0001	0.0001	0	6.569e-05	6.566e-05	7.706e-05	5.378e-05	0.0001	3.515e-05	2.615e-05	7.907e-05	5.993e-05	0	0	0	0	0	0	0	0.0001	0	0	0.316	0.13744	T	0.454	0.12812	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.09	0.04745	N	1.85	0.24472	T	-0.59	0.17624	N	0.062	0.03392	-0.9480	0.41313	T	0.013	0.05081	T	9	0.029851317	0.01111	T	0.004386	0.10687	T	0.028	0.06331	.	.	0.107399877778	0.10242	0.040366289686434374	0.03982	0.0859067736466	0.09707	0.240250185132	0.02813	T	0.008113	0.07462	T	-0.55488	0.00273	T	-0.755388	0.03281	T	0.0132557857853777	0.00236	T	0.00609939	0.00022	T	0.035515152	0.04193	0.035408255	0.02787	0.035515152	0.04193	0.035408255	0.02786	-4.332	0.28623	T	.	.	0.08	0.07793	B	.	.	0.410527	0.07812	4.507	0.77487640106891187	0.11897	0.02178	0.06379	N	AEFDBI	0.035410	0.04552	N	-1.46912650519569	0.02071	0.09106493	-1.39361992081909	0.03319	0.1546065	0.00233075800231605	0.09325	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.41	-1.64	0.07874	-1.919000	0.01663	.	.	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.3151:0.0:0.6849	7.824	0.28469	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	2375.33	38	chr19	57942098	.	C	T	2375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=892;ExcessHet=0;FS=4.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.15;SOR=0.74	GT:AD:DP:GQ:PL	0/1:107,84:191:99:2389,0,2735	18	0	1	0
chr19	58396328	58396328	G	C	exonic	RNF225	.	nonsynonymous SNV	RNF225:NM_001195135:exon1:c.G239C:p.R80P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0083	0.0066	0	0.0007	0	0.0003	0.0001811	28	154602	rs774611903	0.0009	0.0009	0.0010	0.0009	0.0082	0.0009	0.0009	0.0074	0.0071	3.166e-05	0	0.0022	0.0082	0.0140	0.0002	0.0004	0.0014	5.048e-05	0.0015	0.0015	0.0011	0.0019	0.0027	0.0013	0.0013	0.0016	0.0013	2.404e-05	0	0	0.0017	0.0027	0.0140	0	0.0008	0.0005	0	.	.	.	0.252	0.23570	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	.	.	.	0.487	0.52119	.	.	.	.	.	.	.	0.007766098	0.00176	T	.	.	.	.	.	.	.	0.628336401329	0.62530	0.7408148370667663	0.74026	.	.	0.679618000984	0.64214	T	0.038909	0.25005	T	-0.545902	0.00309	T	-0.561854	0.16204	T	.	.	.	0.910809	0.68393	D	0.480	0.65882	0.541919	0.73525	0.480	0.65883	0.541919	0.73525	-13.761	0.92254	D	.	.	0.834	0.78918	P	.	.	4.234470	0.64146	24.7	0.52718933260683887	0.04801	0.85515	0.44655	D	AEFDBHCIJ	0.444923	0.50161	N	.	.	.	.	.	.	0.999996207391923	0.74766	0.56387	0.32371	0	0.379588	0.06130	0	0.503968	0.08637	0	0.645665	0.59343	0	.	.	4.06	3.02	0.33970	0.457000	0.21588	6.107000	0.53619	0.522000	0.23927	0.074000	0.22182	1.000000	0.68203	0.983000	0.59808	0.1081:0.0:0.6884:0.2034	5.154	0.14352	952	0.10565	Zinc finger, RING-type|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002786	0.000000	0.010288	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2061.33	37	chr19	58396328	.	G	C	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.194;SOR=0.706	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2075,0,1899	18	0	1	0
chr20	326558	326558	G	A	exonic	SOX12	.	nonsynonymous SNV	SOX12:NM_006943:exon1:c.G634A:p.A212T	.	201	1285	35	1	0	37	0.0141926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	.	0.00179712	0.0256	0	0.0227	0	.	0.0088	0.0217	0.0323	0.0011125	172	154602	rs562098614	0.0032	0.0030	0.0028	0.0037	0.0177	0.0031	0.0031	0.0169	0.0166	0.0006	0.0014	0.0003	0	7.914e-05	0.0096	0.0026	0.0033	0.0177	0.0018	0.0018	0.0017	0.0020	0.0159	0.0017	0.0016	0.0130	0.0119	0.0005	0	0.0013	0.0006	0	9.446e-05	0.0035	0.0022	0.0024	0.0159	0.122	0.27663	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999887	0.19853	N	0.345	0.11182	N	-4.52	0.97693	D	-0.01	0.07155	N	0.19	0.20793	-0.0268	0.81698	T	0.724	0.90536	D	9	0.0043923557	0.00089	T	.	.	.	0.297	0.61730	.	.	0.474168873855	0.47044	0.08394618797522635	0.08328	.	.	0.875440776348	0.93337	D	0.040251	0.25466	T	-0.317803	0.07079	T	-0.213683	0.53343	T	0.00283458586729885	0.00030	T	0.332967	0.07033	T	0.032572355	0.03308	0.10098065	0.24159	0.032572355	0.03307	0.10098065	0.24159	-6.794	0.52515	T	.	.	0.082	0.08899	B	.	.	1.599753	0.20451	14.76	0.9680411863745384	0.31161	0.08650	0.14549	N	AEFDBHCIJ	0.038486	0.05455	N	-0.906063815489928	0.10699	0.5125643	-0.811478820190698	0.14218	0.7417479	0.999999449189543	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.52	1.29	0.20717	-0.056000	0.11744	0.097000	0.14596	-0.319000	0.05888	0.004000	0.16614	0.960000	0.29291	0.655000	0.32830	0.247:0.0:0.753:0.0	8.612	0.32973	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	0.012367	0.000000	0.006579	0.015504	0.000000	0.000000	0.019608	0.020548	0.07895	1901.77	39	chr20	326558	.	G	A	1901.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.055;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.38;ReadPosRankSum=1.66;SOR=0.6	GT:AD:DP:GQ:PL	0/1:16,18:34:99:509,0,411	17	1	1	0
chr20	1228479	1228479	G	A	exonic	RAD21L1	.	nonsynonymous SNV	RAD21L1:NM_001136566:exon2:c.G26A:p.S9N,RAD21L1:NM_001384355:exon2:c.G26A:p.S9N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00231969462239	.	.	4.686e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775142447	1.646e-05	1.573e-05	1.412e-05	1.886e-05	0.0002	1.096e-05	9.16e-06	0.0001	8.52e-05	0	0	0	0	0	0	7.42e-06	1.727e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.37750	T	0.225	0.31427	T	0.025	0.19245	B	0.098	0.30479	B	0.001764	0.38052	N	0.234953	0.526574	0.31941	D	1.455	0.36767	L	1.49	0.31470	T	-2.2	0.51319	N	0.216	0.24135	-0.9504	0.40903	T	0.087	0.33802	T	10	0.21694845	0.38292	T	0.00232	0.04479	T	0.098	0.28162	0.644	0.78117	0.1749357433	0.17121	0.2120820831873489	0.21124	.	.	0.771816968918	0.77696	T	0.100553	0.40646	T	-0.398741	0.02360	T	-0.541241	0.18174	T	0.0903279092249959	0.11258	T	0.80342	0.48387	T	0.16814649	0.37254	0.18420582	0.41459	0.16814649	0.37254	0.18420582	0.41458	-4.557	0.31627	T	.	.	0.153	0.37501	B	.;.;.	.;.;.	1.760282	0.22389	15.60	0.97547120400226883	0.34544	0.79465	0.39382	D	AEFDBI	0.166818	0.29344	N	-0.0998070882242075	0.37402	2.175429	-0.0186099385953068	0.38876	2.296685	0.597228841161176	0.21696	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.88	2.85	0.32333	1.491000	0.35192	4.428000	0.43340	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3365:0.0:0.6635:0.0	7.707	0.27822	872	0.31118	.;Rad21/Rec8-like protein, N-terminal;Rad21/Rec8-like protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	426.33	34	chr20	1228479	.	G	A	426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.368;DP=662;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.893;SOR=0.746	GT:AD:DP:GQ:PL	0/1:27,19:46:99:440,0,723	18	0	1	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R,TGM6:NM_198994:exon13:c.G1995C:p.R665S	Spinocerebellar ataxia 35, Autosomal dominant	4	1470	45	3	0	51	0.0170512	.	.	.	349763	not_specified|not_provided|Spinocerebellar_ataxia_type_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, 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	1	0	0.009073	0.000000	0.009511	0.002924	0.000000	0.000000	0.015244	0.019084	0.02632	1507.33	71	chr20	2432517	.	G	C	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=1270;ExcessHet=0;FS=3.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.93;SOR=1.022	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1521,0,1865	18	0	1	0
chr20	2484096	2484096	G	A	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.C595T:p.R199C,ZNF343:NM_001282496:exon6:c.C865T:p.R289C,ZNF343:NM_001321800:exon6:c.C865T:p.R289C,ZNF343:NM_001321805:exon6:c.C862T:p.R288C,ZNF343:NM_024325:exon6:c.C865T:p.R289C,ZNF343:NM_001282495:exon7:c.C865T:p.R289C,ZNF343:NM_001282497:exon7:c.C988T:p.R330C,ZNF343:NM_001321801:exon7:c.C988T:p.R330C,ZNF343:NM_001321802:exon7:c.C985T:p.R329C,ZNF343:NM_001321803:exon7:c.C985T:p.R329C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00825103270275	7.7e-05	.	5.767e-05	9.615e-05	0	0.0005	0	0	0.0011	6.056e-05	4.53e-05	7	154602	rs187274947	1.642e-05	1.642e-05	5.445e-06	2.75e-05	0.0003	1.111e-05	9.33e-06	0.0002	0.0001	2.987e-05	0	0	0.0003	0	0	4.496e-06	4.967e-05	4.637e-05	3.284e-05	3.281e-05	2.571e-05	4.029e-05	0.0001	1.26e-05	7.98e-06	4.729e-05	3.047e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	2.895	0.83812	M	0.33	0.58323	T	-6.42	0.91268	D	0.271	0.36569	-0.5183	0.67977	T	0.355	0.71781	T	9	0.13139895	0.25009	T	0.008251	0.21853	T	0.153	0.40148	.	.	0.178374595973	0.17440	0.10207623683237783	0.10137	0.422359933901	0.42741	0.212258458138	0.00911	T	0.064534	0.32460	T	-0.360388	0.04108	T	-0.446582	0.28074	T	0.429461948801847	0.30040	T	0.331367	0.06940	T	0.32272342	0.54869	0.26521003	0.52351	0.32272342	0.54869	0.26521003	0.52350	-8.554	0.64785	D	.	.	0.479	0.63993	A	.;.;.	.;.;.	1.094201	0.14780	11.32	0.97842559942884944	0.36338	0.04027	0.09462	N	AEFBCI	0.028178	0.02435	N	-0.904426520383539	0.10738	0.5146026	-1.30474803343809	0.04368	0.2058935	0.380138491996563	0.19953	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.45	-4.9	0.02866	-2.871000	0.00789	-11.883000	0.00567	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.1483:0.0:0.4976:0.3541	6.889	0.23399	900	0.24599	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	2148.33	34	chr20	2484096	.	G	A	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=809;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.636;SOR=0.76	GT:AD:DP:GQ:PL	0/1:84,74:158:99:2162,0,2288	18	0	1	0
chr20	3559439	3559439	A	G	exonic	ATRN	.	nonsynonymous SNV	ATRN:NM_001207047:exon7:c.A811G:p.N271D,ATRN:NM_001323332:exon7:c.A1159G:p.N387D,ATRN:NM_139321:exon7:c.A1159G:p.N387D,ATRN:NM_139322:exon7:c.A1159G:p.N387D	.	434	1078	10	0	0	10	0.00461681	.	.	.	2091533	not_provided|ATRN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.024463389476	.	0.000798722	0.0007	0	0	0	0	0.0001	0.0011	0.0048	0.0006015	93	154602	rs531512993	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0	0	0	2.52e-05	0	0.0030	5.306e-05	0.0004	0.0044	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.406e-05	0	0	0.0003	0	0	0.0068	4.41e-05	0.0009	0.0039	0.608	0.05551	T	0.623	0.16280	T	0.006	0.47975	B	0.017	0.43987	B	0.000127	0.49741	D	0.191165	0.996318	0.43134	D	1.335	0.33326	L	-0.7	0.72785	T	-1.25	0.31576	N	0.339	0.42050	-0.8320	0.53172	T	0.194	0.54768	T	10	0.006356716	0.00144	T	0.024463	0.47448	T	0.095	0.27398	0.536	0.64585	0.686209328023	0.68352	0.733012885033648	0.73246	0.131608955516	0.14841	0.605303168297	0.53654	T	0.10725	0.41929	T	-0.446242	0.01188	T	-0.413368	0.31838	T	0.0583736982402728	0.06910	T	0.79512	0.43772	T	0.14990978	0.34154	0.13721278	0.32804	0.14990978	0.34153	0.13721278	0.32803	-7.212	0.55568	T	.	.	0.094	0.22171	B	.;.	.;.	3.777652	0.54301	23.5	0.98790072508794102	0.46269	0.96038	0.67252	D	AEFDGI	0.836707	0.75443	D	-0.00606071126639262	0.41580	2.489643	0.157967801877593	0.47564	2.984879	0.999934785433428	0.46732	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	5.989000	0.70262	9.333000	0.80149	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	14.559	0.67711	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1084.33	34	chr20	3559439	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=730;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.087;SOR=0.794	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1098,0,1531	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	0/1:57,42:111:99:233,0,871	3	0	14	2
chr20	19935150	19935150	C	T	exonic	RIN2	.	nonsynonymous SNV	RIN2:NM_001242581:exon3:c.C256T:p.R86W,RIN2:NM_018993:exon4:c.C109T:p.R37W	Macrocephaly, alopecia, cutis laxa, and scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00713969435234	.	.	3.339e-05	0	0	0	0	2.95e-05	0	0.0001	1.29e-05	2	154602	rs758146356	3.443e-06	8.893e-06	1.368e-06	5.544e-06	2.376e-05	1.01e-06	7.3e-07	3.94e-06	1.48e-06	0	0	0	0	0	0	2.709e-06	0	2.376e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.079	0.42086	T	0.0	0.20480	B	0.0	0.12992	B	0.176279	0.17229	N	0.579168	0.996842	0.23681	N	0	0.06538	N	3.17	0.07599	T	-1.24	0.50012	N	0.222	0.24883	-0.9642	0.38370	T	0.013	0.05225	T	9	0.15934262	0.29941	T	0.00714	0.18924	T	0.053	0.14996	0.406	0.43902	0.621312436561	0.61824	0.21071482603065933	0.20987	0.193897602363	0.21726	0.240074023604	0.02797	T	0.03675	0.38758	T	-0.204156	0.20208	T	-0.531032	0.19184	T	0.46412167562785	0.31316	T	0.869813	0.59828	D	0.20530303	0.42668	0.14580116	0.34565	0.20530303	0.42668	0.14580116	0.34565	-8.251	0.63971	D	.	.	0.092	0.17573	B	.;.;.	.;.;.	4.641079	0.73888	26.1	0.99800848404198861	0.88550	0.82608	0.41812	D	ALL	0.584310	0.58319	D	-0.21527642598951	0.32506	1.833976	0.0120547871009802	0.40272	2.400887	0.999999999999999	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.71	4.78	0.60666	3.838000	0.55532	5.926000	0.51241	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9244:0.0:0.0756	13.676	0.61931	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1318.33	40	chr20	19935150	.	C	T	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=778;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.276;SOR=1.201	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1332,0,1272	18	0	1	0
chr20	33291016	33291016	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon5:c.G425A:p.R142H	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00736572939817	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0.0034	0.0002	0.000194	30	154602	rs61737874	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0002	0.0003	3.826e-05	2.519e-05	0	0.0026	0.0002	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0	0	0.0034	0.0002	0.0005	0.0006	0.342	0.18889	T	0.478	0.11968	T	0.004	0.12183	B	0.005	0.11217	B	0.568857	0.05468	N	1.270200	1	0.08975	N	0.74	0.18910	N	3.38	0.05778	T	-0.76	0.27259	N	0.099	0.08088	-0.9267	0.44616	T	0.011	0.04181	T	10	0.01861149	0.00406	T	0.007366	0.19550	T	0.063	0.18251	0.494	0.58206	0.0138822411134	0.00435	0.19700788196174335	0.19617	0.209817070795	0.23452	0.212290734053	0.00912	T	0.003896	0.03302	T	-0.483775	0.00703	T	-0.600621	0.12759	T	0.0127294893884048	0.00215	T	0.466053	0.13673	T	0.02291079	0.00988	0.027614659	0.00927	0.02291079	0.00988	0.027614659	0.00927	-4.998	0.36819	T	.	.	0.068	0.09917	B	.;.	.;.	0.040624	0.04569	1.252	0.90362818841768	0.19626	0.00894	0.03512	N	AEFDGBI	0.040279	0.05968	N	-1.76267070329961	0.00643	0.02773723	-1.80692663087135	0.00737	0.03286027	0.639634266966967	0.22041	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.37	-5.93	0.02067	-0.513000	0.06389	-0.140000	0.11527	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6217:0.1123:0.2661:0.0	8.505	0.32342	59	0.97452	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	.	.	.	.	.	.	.	.	0.05263	2059.83	35	chr20	33291016	.	G	A	2059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.406;DP=760;ExcessHet=0.119;FS=3.485;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.21;SOR=0.47	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1171,0,1176	17	0	2	0
chr20	33297534	33297534	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon7:c.G607A:p.V203M	.	419	1101	1	1	0	3	0.00136054	.	.	.	2335686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00839936862669	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0001682	26	154602	rs45473499	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0001	0.0003	3.826e-05	0	0	0.0028	0.0002	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0.0004	0	0.0034	0.0002	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000740	0.42129	N	0.105378	0.997803	0.22499	N	2.57	0.75187	M	3.27	0.06602	T	-1.03	0.27052	N	0.303	0.34228	-1.0923	0.05159	T	0.048	0.20553	T	10	0.129749	0.24689	T	0.008399	0.22231	T	0.123	0.34020	.	.	0.246215685461	0.24236	0.19985060906393515	0.19902	0.411433108143	0.41895	0.430411934853	0.29265	T	0.057135	0.30481	T	-0.404768	0.02154	T	-0.497232	0.22634	T	0.101768522818546	0.12551	T	0.70483	0.31518	T	0.038501438	0.05140	0.06926973	0.14574	0.038501438	0.05140	0.06926973	0.14574	-4.238	0.27298	T	.	.	0.154	0.33981	B	.	.	3.246139	0.44328	21.9	0.9979344804690754	0.87928	0.13129	0.17679	N	AEFBI	0.068951	0.13625	N	-0.0407135230320952	0.40019	2.369496	-0.236006413773942	0.30257	1.702009	0.194515039969476	0.18042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.92	1.89	0.24700	0.484000	0.22017	2.833000	0.35033	0.676000	0.76740	0.293000	0.25261	0.999000	0.35428	0.057000	0.15750	0.1832:0.0:0.6471:0.1697	4.893	0.13093	54	0.97570	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	0.003021	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2726.83	34	chr20	33297534	.	G	A	2726.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.12;DP=795;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.14;SOR=0.829	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1621,0,1188	17	0	2	0
chr20	33408526	33408526	C	T	exonic	SNTA1	.	nonsynonymous SNV	SNTA1:NM_003098:exon8:c.G1499A:p.R500H	Long QT syndrome 12, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1827046	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.775	0.269501600009	.	.	5.786e-05	9.641e-05	0	0	0	3.005e-05	0	0.0002	4.53e-05	7	154602	rs761509610	2.668e-05	2.668e-05	1.361e-05	3.988e-05	0.0002	1.998e-05	1.754e-05	0.0001	0.0001	0	2.236e-05	0	0	1.872e-05	0	1.439e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.007	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	-2.04	0.85703	D	-4.26	0.76174	D	0.607	0.62442	0.700	0.93174	D	0.760	0.91830	D	10	0.7168958	0.73405	D	0.269502	0.89824	D	0.775	0.92460	0.426	0.47185	0.945179591899	0.94460	0.6422980270541887	0.64164	1.07263255866	0.76850	0.834089279175	0.87190	D	0.862722	0.96967	D	0.0741471	0.61348	D	0.164923	0.81106	D	0.921564102172852	0.58127	D	0.960204	0.84976	D	0.43048367	0.62784	0.27006808	0.52895	0.43048367	0.62784	0.27006808	0.52894	-12.688	0.88037	D	0.6082049661422521	0.67562	0.565	0.67411	P	.	.	4.639109	0.73833	26.1	0.99945760401925876	0.99901	0.99659	0.98423	D	AEFDGBI	0.933861	0.92638	D	0.702541441129523	0.79801	7.154669	0.612167907338803	0.75822	6.379113	0.999999999992768	0.74766	0.706298	0.61202	0	0.659037	0.61890	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	5.904000	0.69623	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:1.0:0.0:0.0	16.866	0.85894	63	0.97314	.	.	.	.	.	.	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	1159.33	37	chr20	33408526	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=710;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-1.142;SOR=0.97	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1173,0,817	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	0/1:93,47:140:95:95,0,1565	2	0	17	0
chr20	36634550	36634550	G	A	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon3:c.C131T:p.P44L,SLA2:NM_175077:exon3:c.C131T:p.P44L	.	429	1069	23	1	0	25	0.011558	.	.	.	716945	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	0.0498057013232	0.0025	0.000998403	0.0027	0.0003	0.0010	0	0.0005	0.0041	0.0046	0.0016	0.0023997	371	154602	rs145656453	0.0020	0.0020	0.0019	0.0021	0.0165	0.0019	0.0019	0.0138	0.0128	0.0003	0.0018	0.0236	2.525e-05	0.0002	0.0165	0.0015	0.0036	0.0016	0.0021	0.0021	0.0022	0.0020	0.0024	0.0019	0.0018	0.0020	0.0019	0.0002	0.0011	0.0024	0.0231	0	0.0004	0.0374	0.0023	0.0052	0.0019	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.11	0.58565	M	0.77	0.49642	T	-7.16	0.94249	D	0.602	0.67045	-0.6259	0.63743	T	0.258	0.62811	T	10	0.013395965	0.00284	T	0.049806	0.63971	D	0.358	0.67872	.	.	0.794046541005	0.79213	0.692351275513148	0.69175	0.854413932334	0.68691	0.520399034023	0.41683	T	0.221004	0.58445	T	-0.239733	0.15382	T	-0.122063	0.61633	T	0.0668209488292126	0.08197	T	0.770723	0.40088	T	0.7209063	0.79211	0.701197	0.82393	0.7209063	0.79213	0.701197	0.82394	-7.672	0.60091	D	.	.	0.199	0.44267	B	.;.	.;.	4.677794	0.74826	26.2	0.99893802504246321	0.96742	0.93514	0.58424	D	AEFDGI	0.600018	0.59281	D	0.611719667730828	0.73913	6.044666	0.568534783179071	0.72696	5.850796	0.999651124038286	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	5.636000	0.67521	11.731000	0.94998	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.293000	0.24333	0.0:0.0:1.0:0.0	15.705	0.77333	353	0.85335	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	0	0	0	0	0	1	0	0.012097	0.010101	0.010870	0.020468	0.000000	0.051724	0.009146	0.003788	0.02632	1597.33	40	chr20	36634550	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=772;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.057;SOR=1.075	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1611,0,1562	18	0	1	0
chr20	36794450	36794450	G	A	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon14:c.C3632T:p.T1211I,SOGA1:NM_199181:exon14:c.C2918T:p.T973I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00512906475988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.57480	T	0.188	0.30926	T	.	.	.	.	.	.	0.442427	0.12610	N	0.779066	0.998154	0.22513	N	.	.	.	2.29	0.19588	T	-1.44	0.35399	N	0.029	0.06854	-1.0385	0.17771	T	0.036	0.15596	T	10	0.075695395	0.11732	T	0.005129	0.13032	T	0.021	0.04004	0.166	0.07071	0.0675242888579	0.06100	0.1594210965582797	0.15863	0.00238928338445	0.00204	0.33463126421	0.15633	T	0.009003	0.08221	T	-0.247363	0.14425	T	-0.593096	0.13398	T	0.0855223277813334	0.10678	T	0.80392	0.45144	T	.	.	.	.	.	.	.	.	-3.514	0.16628	T	.	.	0.140	0.30765	B	.;.	.;.	2.049275	0.26049	16.98	0.98405487624108356	0.41116	0.87947	0.47667	D	AEFDBI	0.145962	0.26929	N	-0.292799201794534	0.29426	1.631673	-0.124497682141154	0.34404	1.978684	0.00660164793047681	0.11261	0.706548	0.73137	0	0.708844	0.79440	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	4.16	0.48138	0.381000	0.20348	6.466000	0.55704	0.672000	0.70159	0.379000	0.25998	1.000000	0.68203	0.754000	0.35928	0.0:0.1498:0.6954:0.1548	10.058	0.41429	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1615.33	33	chr20	36794450	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=765;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.23;SOR=0.734	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1629,0,1891	18	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	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	198.74	34	chr20	37007453	.	C	G	198.74	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.541;DP=1201;ExcessHet=0.7564;FS=109.594;InbreedingCoeff=-0.1229;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.19;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,13:80:39:.:.:39,0,1649:.	15	0	4	0
chr20	38012468	38012468	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G1349A:p.R450H,TTI1:NM_014657:exon3:c.G1349A:p.R450H	.	435	1073	13	1	0	15	0.00694123	.	.	.	2824398	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	.	0.0071	0.00319489	0.0055	0.0020	0.0064	0.0006	0.0011	0.0080	0.0077	0.0013	0.0057955	896	154602	rs36059660	0.0076	0.0076	0.0076	0.0076	0.0091	0.0075	0.0074	0.0089	0.0089	0.0016	0.0063	0.0019	0.0003	0.0009	0.0085	0.0091	0.0063	0.0016	0.0059	0.0059	0.0061	0.0058	0.0093	0.0056	0.0055	0.0086	0.0083	0.0019	0.0175	0.0093	0.0012	0.0004	0.0008	0.0170	0.0092	0.0076	0.0010	0.315	0.13789	T	0.174	0.30045	T	0.019	0.17989	B	0.006	0.12133	B	0.011275	0.29595	N	0.429435	1	0.08975	N	2.48	0.72069	M	-0.21	0.66294	T	-0.89	0.24026	N	0.073	0.06190	-0.9215	0.45348	T	0.119	0.41604	T	10	0.0059761107	0.00134	T	.	.	.	0.038	0.09825	.	.	0.300110245524	0.29617	0.19645467196528332	0.19562	0.178549001201	0.20092	0.213106051087	0.00950	T	0.019252	0.15372	T	-0.527658	0.00397	T	-0.521325	0.20160	T	0.00789010949298266	0.00093	T	0.622038	0.23930	T	0.01633481	0.00191	0.02153968	0.00202	0.020792885	0.00651	0.02153968	0.00202	-3.537	0.16954	T	.	.	0.070	0.03811	B	.;.;.	.;.;.	1.151102	0.15394	11.82	0.96447174790494095	0.29851	0.03375	0.08476	N	AEFBI	0.042708	0.06661	N	-0.782322144524437	0.13771	0.6808263	-0.795495034366477	0.14606	0.764001	0.0886531951870591	0.16065	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	1.52	0.22158	0.170000	0.16476	1.104000	0.24096	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1277:0.6307:0.0:0.2417	5.928	0.18360	745	0.52414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.010101	0.006793	0.000000	0.000000	0.017241	0.006098	0.000000	0.02632	2321.33	36	chr20	38012468	.	C	T	2321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=828;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.3;SOR=0.591	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2335,0,2245	18	0	1	0
chr20	38639281	38639281	G	A	exonic	ARHGAP40	.	nonsynonymous SNV	ARHGAP40:NM_001164431:exon9:c.G1171A:p.E391K	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0149847703148	0.0015	0.00139776	0.0020	0.0005	0	0	0.0006	0.0039	0.0041	0.0009	0.0005886	91	154602	rs147854857	0.0019	0.0015	0.0020	0.0018	0.0032	0.0019	0.0018	0.0019	0.0018	0.0004	0.0016	0.0101	7.786e-05	0.0002	0.0032	0.0019	0.0023	0.0013	0.0013	0.0013	0.0012	0.0013	0.0019	0.0011	0.0011	0.0016	0.0015	0.0004	0	0.0009	0.0075	0	9.413e-05	0	0.0019	0.0024	0.0008	1.0	0.00964	T	0.648	0.06788	T	.	.	.	.	.	.	0.005887	0.32428	N	0.318071	0.951017	0.26485	N	0.815	0.20815	L	2.15	0.19311	T	-0.31	0.12099	N	0.109	0.09490	-1.0252	0.22017	T	0.056	0.23715	T	8	0.007014841	0.00160	T	0.014985	0.35458	T	0.071	0.20720	.	.	0.0806252709748	0.07271	0.479253248029303	0.47845	.	.	0.393268376589	0.24129	T	0.006535	0.05961	T	-0.518645	0.00448	T	-0.52425	0.19865	T	0.0128489102695657	0.00220	T	0.768323	0.39714	T	0.07867284	0.17928	0.07078924	0.15081	0.07867284	0.17928	0.07078924	0.15081	-5.343	0.40366	T	.	.	0.074	0.05188	B	.	.	2.273415	0.29059	18.00	0.37230053959813864	0.02441	0.77020	0.37825	D	AEFBI	0.134647	0.25473	N	-0.243363955816849	0.31368	1.758216	-0.279178168267543	0.28784	1.607646	0.0228024895667815	0.13459	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.55	1.31	0.20837	2.702000	0.46770	1.425000	0.26398	0.676000	0.76740	0.998000	0.41325	0.686000	0.26148	0.987000	0.62547	0.1984:0.1643:0.6373:0.0	5.532	0.16281	899	0.25060	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating 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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1620.33	37	chr20	38639281	.	G	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.331;DP=771;ExcessHet=0;FS=4.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.309;SOR=0.445	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1634,0,1350	18	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:29,14:43:76:76,0,412	13	0	5	1
chr20	45223126	45223126	T	G	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.T1494G:p.I498M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.0129792	0.0061	0	0.0005	0.0001	0	7.496e-05	0.0044	0.0439	0.0054204	838	154602	rs200264083	0.0027	0.0027	0.0015	0.0038	0.0426	0.0026	0.0026	0.0415	0.0410	5.979e-05	2.236e-05	0	2.52e-05	0	0.0010	2.248e-05	0.0031	0.0426	0.0015	0.0015	0.0008	0.0023	0.0458	0.0013	0.0013	0.0408	0.0389	4.812e-05	0	0	0	0	0	0.0034	0	0.0014	0.0458	0.006	0.61437	D	0.033	0.53072	D	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.1	0.08495	N	0.064	0.03613	-0.9475	0.41397	T	0.009	0.03227	T	9	0.0036033392	0.00065	T	.	.	.	0.023	0.04649	.	.	0.0551355673512	0.04727	0.01615964793303796	0.01571	0.0136335744113	0.01305	0.338167339563	0.16164	T	0.001841	0.01261	T	-0.736659	0.00022	T	-0.79952	0.01915	T	0.00316115467144673	0.00033	T	0.391261	0.09725	T	0.09576365	0.22543	0.07079846	0.15084	0.09576365	0.22543	0.07079846	0.15084	-4.691	0.33295	T	.	.	0.061	0.01042	B	.	.	0.196853	0.05823	2.263	0.42141125639889504	0.03086	0.00969	0.03707	N	AEFGBI	0.027377	0.02226	N	-1.41160031698997	0.02536	0.1121132	-1.49749222624904	0.02365	0.1086518	6.84269055119707E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.52	-1.44	0.08391	-1.952000	0.01618	-3.735000	0.02572	-0.294000	0.06260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5764:0.0:0.0:0.4236	4.244	0.10115	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.045455	0.02632	1724.33	38	chr20	45223126	.	T	G	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=861;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.624;SOR=0.917	GT:AD:DP:GQ:PL	0/1:99,63:162:99:1738,0,2990	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	0/1:19,23:42:99:553,0,503	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	0/1:38,61:99:99:1561,0,861	17	0	2	0
chr20	58150968	58150968	G	T	exonic	C20orf85	.	nonsynonymous SNV	C20orf85:NM_178456:exon1:c.G4T:p.A2S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00658683364048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415909054	1.376e-06	3.42e-06	1.367e-06	1.385e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.0	0.92824	D	0.06	0.23119	B	0.009	0.14300	B	0.094660	0.20162	N	0.381328	0.877851	0.28100	N	1.475	0.37068	L	1.72	0.26588	T	-0.78	0.21644	N	0.178	0.19190	-1.0425	0.16562	T	0.051	0.21767	T	10	0.12844247	0.24433	T	0.006587	0.17386	T	0.054	0.15330	0.128	0.03331	0.165133752707	0.16062	0.39814864416040796	0.39729	0.17885719924	0.20123	.	.	.	0.002911	0.02309	T	-0.221128	0.17839	T	-0.555412	0.16810	T	0.0734177700192932	0.09123	T	0.462454	0.13421	T	0.081687704	0.18782	0.06533689	0.13229	0.081687704	0.18782	0.06533689	0.13229	-3.163	0.12034	T	.	.	0.091	0.13268	B	.	.	2.328841	0.29829	18.25	0.98303205767283908	0.40068	0.49705	0.28494	N	AEFDGBHCI	0.096762	0.19528	N	-0.353578018570987	0.27140	1.486718	-0.308743387049627	0.27816	1.546168	0.985294543894057	0.30862	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.542086	0.14980	0	.	.	4.22	0.917	0.18507	0.251000	0.18025	3.007000	0.35945	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.974000	0.55675	0.1022:0.0:0.5382:0.3595	5.188	0.14517	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	1696.33	34	chr20	58150968	.	G	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.791;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.553;SOR=0.731	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1710,0,1525	18	0	1	0
chr20	62065176	62065176	G	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.C635T:p.A212V	.	435	1083	4	0	0	4	0.00184332	.	.	.	3547285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0566155806715	.	0.000399361	0.0035	0.0019	0.0045	0.001	0	0.0073	0	0.0004	0.0007438	115	154602	rs201112070	0.0025	0.0021	0.0025	0.0024	0.0027	0.0024	0.0024	0.0026	0.0026	0.0003	0.0011	0.0043	0	0.0003	0.0016	0.0027	0.0027	0.0004	0.0017	0.0017	0.0017	0.0017	0.0027	0.0015	0.0015	0.0023	0.0022	0.0004	0.0079	0.0017	0.0036	0	0.0004	0.0039	0.0027	0.0015	0.0006	0.15	0.24661	T	0.255	0.23365	T	0.003	0.11197	B	0.002	0.06944	B	0.111926	0.02647	U	4.961650	0.999363	0.21303	N	0.55	0.14455	N	1.86	0.24285	T	-0.4	0.13805	N	0.227	0.25499	-1.0305	0.20292	T	0.039	0.16806	T	10	0.007672459	0.00174	T	0.056616	0.66668	D	0.053	0.14996	.	.	0.292174397486	0.28832	0.3520281414945147	0.35116	0.685142282338	0.60270	0.770441055298	0.77490	T	0.077684	0.35715	T	-0.494089	0.00617	T	-0.487739	0.23628	T	0.00394148750480056	0.00042	T	0.460354	0.13329	T	0.046474624	0.07784	0.060343266	0.11476	0.046474624	0.07783	0.060343266	0.11475	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.559435	0.33143	19.25	0.97531671024508959	0.34464	0.21439	0.21402	N	AEFDGBHCI	.	.	.	-0.863622588189113	0.11716	0.5669498	-0.807712308395829	0.14309	0.7469884	0.99999999996596	0.74766	0.608746	0.35421	0	0.552344	0.17405	0	0.731467	0.93227	0	0.56751	0.32155	0	.	.	1.78	1.78	0.23918	2.634000	0.46194	4.781000	0.44836	0.133000	0.17659	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.3061:0.0:0.6939:0.0	5.293	0.15049	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	1	0	0.004018	0.000000	0.001416	0.003623	0.000000	0.000000	0.010870	0.008475	0.02632	143.33	10	chr20	62065176	.	G	A	143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=0.435;SOR=0.743	GT:AD:DP:GQ:PL	0/1:13,9:22:99:157,0,256	18	0	1	0
chr20	62475026	62475026	C	T	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.G496A:p.G166S	.	423	1090	9	0	0	9	0.00411147	.	.	.	1576589	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.293	.	8.4e-05	0.00239617	0.0145	0	0	0	0	0	0	0.0543	0.0006598	102	154602	rs141950357	0.0005	0.0006	0.0003	0.0007	0.0077	0.0005	0.0004	0.0071	0.0069	0	0	0	7.321e-05	0.0004	0.0024	9.485e-05	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0093	0.0003	0.0003	0.0072	0.0064	4.809e-05	0	0	0	0	0	0	0.0001	0.0005	0.0093	1.0	0.00964	T	1.0	0.01155	T	0.386	0.34500	B	0.064	0.27215	B	0.966251	0.08190	N	0.982631	0.917171	0.36572	D	1.03	0.25572	L	-4.39	0.97394	D	0.47	0.03090	N	0.092	0.07125	-0.1305	0.79390	T	0.591	0.85373	D	10	0.0076497197	0.00174	T	.	.	.	0.293	0.61272	.	.	0.796836870525	0.79494	0.5553975803686523	0.55466	1.86449222915	0.92438	0.612610340118	0.54685	T	0.499332	0.82040	T	-0.39952	0.02332	T	-0.338697	0.40492	T	0.04967273674702	0.05443	T	0.476552	0.14308	T	0.041679822	0.06182	0.10859924	0.26163	0.064345114	0.13643	0.10604333	0.25503	-3.903	0.22348	T	0.2588918245172238	0.34976	0.075	0.05447	B	.	.	1.356429	0.17649	13.29	0.95476189535360489	0.27032	0.66604	0.33136	D	AEFDBHCI	0.214034	0.33955	N	-1.17979485161635	0.05306	0.2415666	-1.08421086828529	0.08011	0.392052	0.997239734826762	0.35404	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	-1.08	0.09428	1.075000	0.30328	-0.235000	0.10642	-1.085000	0.01553	0.957000	0.33433	0.000000	0.08366	0.852000	0.40310	0.0:0.2692:0.0:0.7308	7.990	0.29394	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003719	0.000000	0.001393	0.006024	0.000000	0.000000	0.003333	0.008130	0.02632	622.33	36	chr20	62475026	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=698;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=2.32;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,22:38:99:636,0,361	18	0	1	0
chr20	63698361	63698361	A	C	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon3:c.A701C:p.Q234P	.	426	1091	5	0	0	5	0.00228624	.	.	.	1897899	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0568279820077	.	.	1.012e-05	0	0	0	0	0	0	6.709e-05	6.5e-06	1	154602	rs781192378	6.861e-06	6.84e-06	5.462e-06	8.273e-06	5.81e-05	3.47e-06	2.53e-06	2.197e-05	1.432e-05	0	0	0	0	1.929e-05	0	2.701e-06	1.661e-05	5.81e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.014	0.62352	D	0.995	0.67487	D	0.72	0.54860	P	.	.	.	.	0.974213	0.25504	N	2.14	0.59869	M	0.09	0.61443	T	-1.48	0.36189	N	0.638	0.65074	-0.8928	0.48687	T	0.218	0.58046	T	9	0.675684	0.70976	D	0.056828	0.66745	D	0.195	0.47612	0.463	0.53242	0.306695030598	0.30287	0.695504470587315	0.69491	0.0786725316196	0.08852	0.562599539757	0.47634	T	0.146805	0.48458	T	-0.140554	0.29803	T	-0.339042	0.40452	T	0.295700222253799	0.24826	T	0.480552	0.14510	T	0.30031744	0.52934	0.30488196	0.56516	0.30031744	0.52933	0.30488196	0.56515	-5.465	0.41540	T	.	.	0.203	0.42806	B	.	.	2.411341	0.30991	18.61	0.9834694083165757	0.40497	0.95115	0.63493	D	AEFDGBHCI	0.289939	0.40145	N	-0.0783922421883194	0.38342	2.244115	-0.227515734495972	0.30555	1.721357	0.999999919081185	0.74766	0.536635	0.22144	0	0.519925	0.08708	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	4.16	3.06	0.34374	1.219000	0.32083	1.869000	0.29374	-0.109000	0.15193	0.791000	0.29607	0.991000	0.31484	0.007000	0.07825	0.8985:0.0:0.1015:0.0	7.487	0.26606	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1339.33	33	chr20	63698361	.	A	C	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.463;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.358;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1353,0,1070	18	0	1	0
chr20	63700462	63700462	C	T	exonic	ARFRP1	.	nonsynonymous SNV	ARFRP1:NM_001267546:exon7:c.G446A:p.R149Q,ARFRP1:NM_001267547:exon8:c.G587A:p.R196Q,ARFRP1:NM_001267548:exon8:c.G587A:p.R196Q,ARFRP1:NM_003224:exon8:c.G587A:p.R196Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	2673660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.01759094414	7.7e-05	.	8.551e-05	0	0.0002	0.0001	0	9.422e-05	0	6.075e-05	3.84e-05	1	26028	rs140213848	0.0001	0.0001	9.698e-05	0.0001	0.0001	8.876e-05	8.36e-05	0.0001	9.883e-05	0	4.473e-05	0	5.039e-05	0	0	0.0001	6.646e-05	5.805e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.879e-05	0	0	.	.	.	0.067	0.44302	T	0.967	0.56408	D	0.387	0.44046	B	0.000129	0.49741	D	0.138045	1	0.81001	D	1.78	0.46185	L	.	.	.	.	.	.	0.529	0.64563	-0.3641	0.73141	T	0.283	0.65468	T	10	0.26159358	0.43620	T	0.017591	0.39349	T	.	.	.	.	0.585382094262	0.58212	0.5412537089182844	0.54050	.	.	0.621567189693	0.55950	T	0.361995	0.72798	T	-0.146908	0.28795	T	-0.148476	0.59378	T	0.226825565099716	0.21799	T	0.937306	0.76420	D	0.13567309	0.31479	0.086701065	0.20104	0.13567309	0.31479	0.086701065	0.20104	-3.781	0.20521	T	.	.	0.151	0.33435	B	.;.;.;.;.	.;.;.;.;.	4.699326	0.75381	26.3	0.99927878261594949	0.99163	0.95970	0.66948	D	AEFDGBHCI	0.746153	0.68861	D	0.456912563754409	0.64597	4.717763	0.478158371531332	0.66545	4.966062	1.0	0.98316	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.79	4.79	0.60909	5.436000	0.66287	7.513000	0.59647	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	17.435	0.87442	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2066.33	34	chr20	63700462	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=804;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=2.06;SOR=0.778	GT:AD:DP:GQ:PL	0/1:79,83:162:99:2080,0,1760	18	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:143,147:290:99:3870,0,3445	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:125,117:242:99:2902,0,3497	3	3	13	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5675.79	35	chr21	13615163	.	G	A	5675.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.085;DP=1039;ExcessHet=0.3672;FS=3.219;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=50.27;MQRankSum=0.711;QD=11.8;ReadPosRankSum=0.232;SOR=0.488	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1642,0,2365	16	0	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:80,96:176:99:2172,0,2014	3	5	11	0
chr21	15847768	15847768	G	T	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001283041:exon19:c.G2443T:p.D815Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0650452802723	.	.	0.0004	0	0	0	0	0.0010	0	0	4.53e-05	7	154602	rs200059109	7.452e-05	7.114e-05	6.789e-05	8.134e-05	8.361e-06	6.264e-05	5.853e-05	3.93e-06	2.85e-06	0	0	0.0033	0	0	0	8.361e-06	0.0002	0	3.287e-05	3.284e-05	5.141e-05	1.346e-05	.	1.261e-05	7.98e-06	.	.	0	0	0	0.0014	0	0	0	0	0	0	0.004	0.65419	D	0.043	0.49942	D	0.798	0.44840	P	0.133	0.33073	B	.	.	.	.	0.904472	0.81001	D	.	.	.	1.62	0.28189	T	-1.01	0.26639	N	0.903	0.90363	-0.3000	0.74985	T	0.409	0.75782	T	8	0.12138134	0.23008	T	0.065045	0.69460	D	0.234	0.53644	.	.	0.290620346082	0.28682	0.6567780494558059	0.65613	.	.	.	.	.	.	.	.	-0.0761866	0.40332	T	-0.326942	0.41808	T	0.208820202045897	0.20891	T	0.857914	0.54791	D	.	.	.	.	.	.	.	.	-9.359	0.69978	D	.	.	0.735	0.74397	P	.	.	4.380871	0.67527	25.1	0.99040940044349379	0.51028	0.99718	0.98931	D	AEFBI	0.882316	0.81034	D	0.563131131598617	0.70885	5.567758	0.673644548072926	0.80381	7.286529	0.999999999999791	0.74766	0.559995	0.30671	0	0.446627	0.06534	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	6.16	6.16	0.99302	9.053000	0.93310	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.860	0.99763	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	645.33	33	chr21	15847768	.	G	T	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=660;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.14;SOR=0.465	GT:AD:DP:GQ:PL	0/1:16,25:41:99:659,0,407	18	0	1	0
chr21	26844300	26844300	C	T	exonic	ADAMTS1	.	nonsynonymous SNV	ADAMTS1:NM_006988:exon1:c.G655A:p.G219R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0217578427858	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001229	19	154602	rs551514906	8.372e-05	8.619e-05	4.232e-05	0.0001	0.0013	7.159e-05	6.706e-05	0.0011	0.0010	0	0	0	0	0	0.0007	4.501e-06	4.982e-05	0.0013	5.251e-05	5.249e-05	2.569e-05	8.055e-05	0.0017	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.624	0.05245	T	0.269	0.22426	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.14	0.60854	T	-0.39	0.13611	N	0.226	0.25377	-1.0254	0.21952	T	0.076	0.30397	T	9	0.009759486	0.00219	T	0.021758	0.44572	T	0.027	0.05988	0.283	0.23961	0.466077763902	0.46236	0.4186721125783169	0.41783	0.303424544724	0.32666	0.470956265926	0.34812	T	0.055819	0.30115	T	-0.449376	0.01139	T	-0.468715	0.25655	T	0.027855861443583	0.01666	T	0.553245	0.19112	T	0.063956656	0.13522	0.04639312	0.06456	0.063956656	0.13522	0.04639312	0.06455	-5.753	0.44163	T	.	.	0.083	0.09143	B	.	.	1.047888	0.14288	10.87	0.92118220720296362	0.21473	0.01496	0.04962	N	ALL	0.066899	0.13125	N	-1.28728115797552	0.03828	0.1716906	-1.32728983689197	0.04081	0.1917497	0.999999999823	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.621717	0.48901	0	.	.	1.23	1.23	0.20358	0.904000	0.28114	0.329000	0.17264	0.520000	0.23804	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	7.929	0.29051	828	0.39726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1304.33	94	chr21	26844300	.	C	T	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=1270;ExcessHet=0;FS=0.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=-0.368;SOR=0.754	GT:AD:DP:GQ:PL	0/1:27,51:78:99:1318,0,635	18	0	1	0
chr21	33811086	33811086	G	T	exonic	ITSN1	.	nonsynonymous SNV	ITSN1:NM_001331009:exon20:c.G2416T:p.A806S,ITSN1:NM_001331010:exon20:c.G2416T:p.A806S,ITSN1:NM_001331011:exon20:c.G2416T:p.A806S,ITSN1:NM_001331012:exon20:c.G2305T:p.A769S,ITSN1:NM_001001132:exon21:c.G2431T:p.A811S,ITSN1:NM_001331008:exon21:c.G2431T:p.A811S,ITSN1:NM_003024:exon21:c.G2431T:p.A811S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00679647234342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.25457	T	0.744	0.06109	T	0.01	0.35556	B	0.029	0.36391	B	0.134584	0.18511	N	0.598066	1	0.08975	N	0.29	0.10111	N	1.59	0.28836	T	-0.37	0.18877	N	0.134	0.16168	-1.0037	0.28844	T	0.029	0.12234	T	10	0.045093775	0.03541	T	0.006796	0.17953	T	0.016	0.02506	0.366	0.37361	0.389676119804	0.38580	0.314456600626202	0.31358	0.331145859836	0.35192	0.253390818834	0.04133	T	0.065495	0.32703	T	-0.300525	0.08611	T	-0.66946	0.07643	T	0.0940807819714183	0.11693	T	0.830717	0.50110	T	0.033256322	0.03508	0.052433874	0.08640	0.033256322	0.03508	0.052433874	0.08639	-7.301	0.58443	T	.	.	0.072	0.05890	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.567442	0.20069	14.57	0.92408838259634318	0.21823	0.18800	0.20407	N	AEFDBCI	0.295297	0.40545	N	-1.03671861132881	0.07851	0.366096	-1.08082024312105	0.08078	0.3956362	0.998820819939565	0.37755	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-1.71	0.07696	0.238000	0.17782	1.169000	0.24610	-0.106000	0.15538	0.000000	0.06391	0.003000	0.18671	0.672000	0.33309	0.6002:0.0:0.3998:0.0	12.954	0.57817	814	0.42100	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1031.33	35	chr21	33811086	.	G	T	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=744;ExcessHet=0;FS=3.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.931;SOR=1.084	GT:AD:DP:GQ:PL	0/1:69,45:114:99:1045,0,1509	18	0	1	0
chr21	39258522	39258522	C	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon18:c.G2036C:p.R679T,BRWD1:NM_033656:exon18:c.G2036C:p.R679T	.	.	.	.	.	.	.	.	.	.	.	2286266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0124829930591	0.0004	0.000199681	0.0003	9.61e-05	0.0005	0	0	0.0004	0.0011	0	0.0002652	41	154602	rs145883608	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0	0.0004	7.699e-05	0	0	0.0003	0.0004	0.0003	4.706e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.407e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.316	0.13879	T	0.571	0.09236	T	0.001	0.15535	B	0.004	0.14300	B	0.209853	0.16392	N	0.641961	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	0.12	0.05604	N	0.121	0.17691	-1.0194	0.23910	T	0.044	0.18989	T	10	0.015028924	0.00315	T	0.012483	0.31090	T	0.023	0.04649	.	.	0.459148520276	0.45539	0.23995892596176835	0.23909	0.775270139995	0.64992	0.209989860654	0.00811	T	0.045811	0.27236	T	-0.3829	0.02987	T	-0.455722	0.27065	T	0.00803478526776476	0.00095	T	0.759324	0.38363	T	0.043149844	0.06672	0.03179381	0.01818	0.043149844	0.06672	0.03179381	0.01818	-3.421	0.15340	T	.	.	0.072	0.04238	B	.;.;.	.;.;.	0.741392	0.11106	7.755	0.7878988189136642	0.12453	0.17121	0.19698	N	AEFDBI	0.075044	0.15058	N	-1.20875554369886	0.04870	0.2207873	-1.12349292824981	0.07253	0.3521049	0.989273726716082	0.31774	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.46	1.0	0.18999	-0.302000	0.08259	-0.125000	0.11680	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.630000	0.32157	0.0:0.464:0.1419:0.394	5.506	0.16144	970	0.06235	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1411.33	34	chr21	39258522	.	C	G	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=747;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.503;SOR=0.6	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1425,0,1639	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|1:73,13:86:99:0|1:41918930_C_G:231,0,2954:41918930	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|1:73,13:86:99:0|1:41918930_C_G:231,0,2954:41918930	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|1:73,13:86:99:0|1:41918930_C_G:231,0,2927:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	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	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:41918930_C_G:252,0,2644:41918930	10	0	9	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|1:86,106:192:99:0|1:44539415_T_C:4132,0,3186:44539415	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|1:77,83:160:99:1|0:44540035_G_A:2265,0,2890:44540035	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	0/1:198,155:353:99:5646,0,7709	7	2	8	2
chr21	45468713	45468713	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon2:c.G1118A:p.R373Q,COL18A1:NM_130444:exon2:c.G1823A:p.R608Q,COL18A1:NM_001379500:exon3:c.G578A:p.R193Q	Knobloch syndrome, type 1, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	886935	COL18A1-related_disorder|Inborn_genetic_diseases|not_specified|not_provided|Knobloch_syndrome	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.0192785647505	8.2e-05	0.00139776	0.0007	0.0002	9.043e-05	0.0089	0	3.156e-05	0	0.0002	0.0006145	95	154602	rs2236453	0.0003	0.0003	0.0004	0.0003	0.0117	0.0003	0.0003	0.0109	0.0105	0	4.473e-05	0	0.0117	0	0	1.979e-05	0.0002	8.116e-05	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0052	4.81e-05	0	6.531e-05	0	0.0077	0	0	0	0	0.0002	0.511	0.07473	T	0.34	0.18018	T	0.026	0.22658	B	0.002	0.13708	B	0.488173	0.12087	N	0.726704	1	0.08975	N	0.69	0.16971	N	0.89	0.45636	T	0.24	0.04533	N	0.064	0.03956	-0.9841	0.34045	T	0.046	0.19800	T	10	0.0039824843	0.00077	T	0.019279	0.41600	T	0.046	0.12618	.	.	0.281780670237	0.27795	0.19856987531677855	0.19773	0.076962351002	0.08643	0.309449732304	0.11825	T	0.074743	0.35011	T	-0.684105	0.00045	T	-0.750037	0.03484	T	0.00585184556853965	0.00064	T	0.483152	0.15096	T	0.009754506	0.00004	0.021428332	0.00194	0.014926199	0.00114	0.025603741	0.00611	-3.74	0.19910	T	0.13073248967980594	0.13780	0.066	0.02927	B	.;.;.	.;.;.	0.521618	0.08906	5.684	0.86044113436763048	0.16277	0.01064	0.03948	N	AEFBI	0.150099	0.27432	N	-1.46844227492991	0.02076	0.09129492	-1.54022599165921	0.02044	0.09343128	0.999993201399857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	-6.1	0.01956	0.914000	0.28246	-0.788000	0.07426	-0.671000	0.04298	0.031000	0.20493	0.000000	0.08366	0.002000	0.04165	0.7529:0.1178:0.1293:0.0	10.78	0.45572	645	0.63593	.;.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1284.33	33	chr21	45468713	.	G	A	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.325;DP=731;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.447;SOR=0.908	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1298,0,1083	18	0	1	0
chr22	15698769	15698769	G	T	splicing	POTEH	NM_001136213:exon4:c.1028+1G>T	.	.	.	498	1014	9	0	1	10	0.00441826	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.331e-05	0	0	0	0	6.256e-05	0.0012	0	3.84e-05	1	26028	rs768456850	3.639e-05	0.0009	1.775e-05	5.524e-05	0.0005	2.838e-05	2.574e-05	0.0003	0.0003	2.994e-05	0	0	0	0	0.0005	1.08e-05	1.665e-05	0.0004	7.241e-05	0.0008	3.864e-05	0.0001	0.0011	3.978e-05	3.133e-05	0.0004	0.0003	2.419e-05	0	6.543e-05	0	0	0	0	5.886e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252898	0.13744	T	-0.601047	0.12723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.520591	0.49350	22.8	0.8413159350197662	0.15115	0.65230	0.32668	D	AEFI	.	.	.	0.409239379146491	0.61929	4.40093	0.0426914032857451	0.41721	2.511202	1.53527211741348E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0859718	0.19548	1.54	1.54	0.22290	4.447000	0.59762	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	6.574	0.21751	.	.	.;.	.	.	.	.	.	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	2525.83	95	chr22	15698769	.	G	T	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.24;DP=4286;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=42.48;MQRankSum=-3.074;QD=2.37;ReadPosRankSum=1.37;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:590,53:643:99:0|1:15698769_G_T:439,0,24396:15698769	17	0	2	0
chr22	15711017	15711017	G	T	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1503T:p.E501D	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470465845	2.604e-05	0.0005	1.09e-05	4.134e-05	0.0007	1.936e-05	1.695e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.898e-06	1.659e-05	0.0003	1.316e-05	0.0002	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.344e-05	3.049e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.81	0.22294	N	0.358	0.41063	-1.0493	0.14593	T	0.063	0.26065	T	9	0.10650462	0.19740	T	0.00104	0.01167	T	.	.	0.277	0.23004	0.0138822411134	0.00435	0.02823830488701238	0.02773	.	.	0.650555491447	0.60064	T	0.004782	0.04195	T	-0.191801	0.21993	T	-0.513286	0.20977	T	0.136628453409336	0.15982	T	0.681532	0.29028	T	.	.	.	.	.	.	.	.	-4.412	0.29719	T	.	.	0.156	0.34470	B	.;.	.;.	0.768235	0.11380	7.995	0.98322555819485691	0.40261	0.00981	0.03737	N	AEFI	0.031899	0.03500	N	-1.00265464351718	0.08549	0.4012335	-1.2184934362017	0.05612	0.267929	1.134474640041E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.403	0.11782	-0.320000	0.08070	.	.	-0.632000	0.04510	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4253:0.0:0.5747:0.0	4.081	0.09402	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	418.09	227	chr22	15711017	.	G	T	418.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=4509;ExcessHet=0.119;FS=0.858;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.026;MQ=35.17;MQRankSum=-2.001;QD=0.46;ReadPosRankSum=-0.081;SOR=0.598	GT:AD:DP:GQ:PL	0/1:378,65:443:99:431,0,9608	17	0	2	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H,CECR2:NM_001290047:exon17:c.G3530A:p.R1177H	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.004076	0.005848	0.000000	0.000000	0.021341	0.041667	0.02632	3478.33	37	chr22	17548817	.	G	A	3478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=1110;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-3.097;SOR=0.633	GT:AD:DP:GQ:PL	0/1:187,146:333:99:3492,0,4541	18	0	1	0
chr22	17773629	17773629	T	C	exonic	BID	.	nonsynonymous SNV	BID:NM_197966:exon1:c.A61G:p.R21G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00409181981346	.	.	1.699e-05	0	0	0	0	3.099e-05	0	0	3.84e-05	1	26028	rs766801403	8.219e-06	8.209e-06	1.09e-05	5.506e-06	2.519e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	2.519e-05	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.05485	T	0.563	0.09022	T	0.711	0.42090	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	-0.44	0.14588	N	0.114	0.10198	-1.0049	0.28487	T	0.021	0.08778	T	9	0.066797376	0.09215	T	0.004092	0.09775	T	0.049	0.13647	0.394	0.41935	0.0401082797425	0.02173	0.4216296487948293	0.42078	0.215301781691	0.24062	0.33499109745	0.15686	T	.	.	.	-0.405393	0.02133	T	-0.804609	0.01789	T	0.0388500156167999	0.03484	T	0.272873	0.04620	T	.	.	.	.	.	.	.	.	-3.26	0.13227	T	.	.	0.076	0.06159	B	.	.	0.901894	0.12757	9.277	0.79192595486440154	0.12631	0.01125	0.04098	N	AEFDGBHCI	0.050519	0.08837	N	-1.0421832499546	0.07742	0.3606536	-1.14446116050079	0.06868	0.3320668	0.99999793861438	0.74766	0.495885	0.18260	0	0.484254	0.07192	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	2.47	0.036	0.13508	-0.190000	0.09612	0.224000	0.16109	0.519000	0.23678	0.000000	0.06391	0.009000	0.19889	0.020000	0.11549	0.0:0.3265:0.0:0.6735	5.020	0.13698	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	684.33	40	chr22	17773629	.	T	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.116;DP=665;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.32;SOR=0.636	GT:AD:DP:GQ:PL	0/1:26,29:55:99:698,0,649	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	0/1:93,143:236:99:.:.:3542,0,2257:.	2	12	5	0
chr22	21209486	21209486	G	C	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon13:c.C1096G:p.H366D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00383879305227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412946842	0.0011	0.0008	0.0010	0.0011	0.0019	0.0009	0.0009	0.0012	0.0011	0.0019	0.0011	0.0011	0.0013	0.0013	0	0.0008	0.0013	0.0015	0.0009	0.0012	0.0011	0.0007	0.0068	0.0004	0.0003	0.0011	0.0005	0.0004	0	0	0.0114	0.0065	0	0	0.0005	0	0.0068	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.010212	0.30020	N	0.362241	0.999998	0.08975	N	.	.	.	3.42	0.05507	T	2.86	0.00162	N	0.124	0.11626	-0.9701	0.37179	T	0.003	0.00864	T	8	0.0055036545	0.00121	T	0.003839	0.08992	T	0.030	0.07022	0.341	0.33302	0.0675242888579	0.06100	0.47765445847018184	0.47685	2.22411694008	0.95873	.	.	.	.	.	.	-0.438179	0.01326	T	-0.86719	0.00769	T	0.00613393054556093	0.00068	T	0.229577	0.03081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00847	B	.;.	.;.	-0.066918	0.03841	0.826	0.42066679118222272	0.03076	0.00822	0.03319	N	AEFI	0.024696	0.01571	N	-1.78504229245598	0.00583	0.02510654	-1.83340408301581	0.00658	0.02927087	2.3069220024356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.68	-2.25	0.06498	0.485000	0.22033	-2.685000	0.03469	-1.942000	0.00490	0.367000	0.25900	0.000000	0.08366	0.002000	0.04165	0.0:0.4462:0.175:0.3788	4.218	0.09998	439	0.80177	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	99.25	.	chr22	21209486	.	G	C	99.25	.	AC=2;AF=0.2;AN=10;DP=8;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=30.13;QD=33.08;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:103,9,0	4	1	0	14
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:2,6:8:50:195,0,50	5	0	13	1
chr22	23292603	23292603	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon15:c.G2845A:p.V949I,BCR:NM_021574:exon15:c.G2845A:p.V949I	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	0	1508	14	0	0	14	0.00462046	.	.	.	215597	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.241	0.0182670036168	0.0052	0.00259585	0.0049	0.0009	0.0012	0.0001	0.0059	0.0068	0.0077	0.0040	0.0049741	769	154602	rs2229038	0.0067	0.0067	0.0067	0.0066	0.0077	0.0065	0.0065	0.0076	0.0075	0.0011	0.0019	0.0014	5.042e-05	0.0056	0.0038	0.0077	0.0060	0.0036	0.0045	0.0045	0.0045	0.0044	0.0068	0.0042	0.0041	0.0063	0.0061	0.0013	0	0.0034	0.0017	0.0002	0.0067	0	0.0068	0.0038	0.0050	0.094	0.33923	T	0.323	0.28958	T	0.95	0.77913	P	0.49	0.63417	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.135	0.59519	M	-0.86	0.74477	T	-0.71	0.20145	N	0.495	0.52829	-0.2823	0.75478	T	0.376	0.73378	T	10	0.011685669	0.00254	T	0.018267	0.40277	T	0.241	0.54641	.	.	0.711312696307	0.70878	0.3072732985453133	0.30640	0.837086837514	0.67857	0.660765647888	0.61519	T	0.29824	0.67080	T	-0.284361	0.10210	T	-0.175974	0.56894	T	0.0148988651097784	0.00317	T	0.988576	0.97542	D	0.09510405	0.22375	0.09868344	0.23536	0.09510405	0.22375	0.09868344	0.23535	-4.785	0.52945	T	.	.	0.126	0.33732	B	.;.	.;.	4.794663	0.77846	26.8	0.99669306438925331	0.78458	0.97699	0.76499	D	AEFDBHCI	0.866254	0.78561	D	0.380543992642284	0.60367	4.225014	0.400218140924923	0.61578	4.359968	0.999999999999993	0.74766	0.706548	0.73137	0	0.779548	0.99637	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.71	4.71	0.59010	7.824000	0.84838	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	17.020	0.86304	952	0.10565	C2 domain|C2 domain|C2 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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1425.33	36	chr22	23292603	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.039;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1439,0,1026	18	0	1	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	0/1:61,39:100:99:1438,0,2418	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	0/1:70,20:90:99:406,0,1753	9	0	10	0
chr22	25177438	25177438	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon7:c.C4990T:p.R1664W	.	.	.	.	.	.	.	.	.	.	.	3272238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.068800742005	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376819852	2.858e-05	2.736e-05	3.525e-05	2.173e-05	0.0005	2.154e-05	1.897e-05	0.0003	0.0002	0.0005	0	0	2.798e-05	0	0	1.761e-05	6.896e-05	1.262e-05	7.883e-05	7.879e-05	0.0001	5.378e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.934e-05	0.0002	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.015	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998685	0.45275	D	2.8	0.81625	M	.	.	.	-4.5	0.93697	D	0.53	0.64648	-0.1812	0.78150	T	0.404	0.75473	T	9	0.60242856	0.66987	D	0.068801	0.70553	D	0.288	0.60691	.	.	0.41337360676	0.40951	0.31233766532436724	0.31146	.	.	0.679712891579	0.64226	T	0.225603	0.68820	T	0.000792134	0.51762	T	2.99214e-05	0.70338	D	0.997050285339355	0.90665	D	0.958804	0.84482	D	0.55564386	0.70269	0.40674934	0.65039	0.55564386	0.70270	0.40674934	0.65039	-7.516	0.68013	D	.	.	0.368	0.57695	A	.;.;.;.	.;.;.;.	5.123938	0.85718	28.7	0.99920478623628528	0.98721	0.58845	0.30752	D	AEFDGBI	0.437499	0.49728	N	0.510530872740249	0.67712	5.118	0.426565841886384	0.63227	4.552184	0.991766339136181	0.32601	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.35	4.35	0.51454	1.156000	0.31323	3.130000	0.36437	0.549000	0.26987	0.742000	0.29047	0.997000	0.33255	0.986000	0.61781	0.1994:0.8006:0.0:0.0	10.13	0.41848	958	0.09170	Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, C-terminal;Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, C-terminal;.;Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, 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	1861.33	34	chr22	25177438	.	C	T	1861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=776;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.823;SOR=0.633	GT:AD:DP:GQ:PL	0/1:71,73:144:99:1875,0,1639	18	0	1	0
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,10:97:16:.:.:16,0,3175:.	3	0	6	10
chr22	28679713	28679713	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C11G:p.S4W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.980119946498	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937562185	0.0015	0.0065	0.0011	0.0020	0.0258	0.0015	0.0015	0.0242	0.0236	0.0001	0.0002	0.0014	7.738e-05	0.0050	0.0010	0.0008	0.0015	0.0258	1.328e-05	0.0002	0	2.721e-05	2.433e-05	2.21e-06	8.3e-07	.	.	2.433e-05	0	0	0	0	9.825e-05	0	0	0	0	0.007	0.59928	D	0.0	0.92824	D	0.73	0.42641	P	0.07	0.27859	B	.	.	.	.	0.532853	0.31990	D	0	0.06538	N	-2.72	0.90622	D	-0.36	0.13035	N	0.31	0.34981	-0.1927	0.77860	T	0.384	0.74024	T	9	0.27934444	0.45507	T	0.98012	0.99895	D	0.208	0.49714	0.307	0.27806	0.68901499407	0.68634	0.20874333719482321	0.20790	.	.	0.770151615143	0.77447	T	0.006832	0.06256	T	-0.00640932	0.50767	T	-0.246983	0.50114	T	0.329696766303292	0.26213	T	0.515548	0.16619	T	0.06494039	0.13830	0.15296684	0.35965	0.06494039	0.13830	0.15296684	0.35965	-7.102	0.54775	T	.	.	0.157	0.34732	B	.	.	3.240027	0.44223	21.9	0.97481073415641528	0.34188	0.18877	0.20439	N	AEFDBHCIJ	0.146744	0.27027	N	-0.396930620966109	0.25577	1.389521	-0.410088842666588	0.24701	1.354131	0.999974152757145	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	2.88	1.85	0.24418	0.434000	0.21212	1.226000	0.25010	0.518000	0.23583	0.186000	0.24138	1.000000	0.68203	0.725000	0.34934	0.1757:0.0:0.8243:0.0	4.856	0.12922	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	74.13	.	chr22	28679713	.	G	C	74.13	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=-0.1426;MLEAC=2;MLEAF=0.091;MQ=48.74;MQRankSum=-0.967;QD=24.71;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:17:0|1:28679690_T_C:81,0,17:28679690	10	0	1	8
chr22	30292490	30292490	G	A	exonic	TBC1D10A	.	nonsynonymous SNV	TBC1D10A:NM_001204240:exon9:c.C1433T:p.P478L,TBC1D10A:NM_031937:exon9:c.C1412T:p.P471L	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00822671097306	0.0002	0.000798722	0.0011	0.0002	0	0.0001	0	9.225e-05	0.0012	0.0093	0.0009379	145	154602	rs201271557	0.0005	0.0005	0.0004	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0.0002	2.257e-05	0	0	0	0.0005	0.0001	0.0006	0.0073	0.0003	0.0003	0.0001	0.0005	0.0070	0.0002	0.0002	0.0052	0.0045	0.0002	0	6.539e-05	0	0	0	0	2.94e-05	0	0.0070	0.218	0.23997	T	0.2	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	0.781631	0.06658	N	1.105750	0.999993	0.08975	N	0.255	0.09829	N	3.57	0.04696	T	-0.73	0.24898	N	0.044	0.01658	-0.9086	0.47025	T	0.007	0.02558	T	10	0.0040166974	0.00078	T	0.008227	0.21801	T	0.006	0.00375	.	.	0.110392049598	0.10638	0.12787806013386602	0.12712	0.129712871684	0.14626	0.337988257408	0.16137	T	0.013999	0.14645	T	-0.66681	0.00057	T	-0.726738	0.04476	T	0.00156961605645816	0.00016	T	0.631037	0.24617	T	0.030365663	0.02687	0.030268217	0.01462	0.030365663	0.02687	0.030268217	0.01462	-6.36	0.49196	T	.	.	0.067	0.03301	B	.;.;.	.;.;.	0.002570	0.04298	1.082	0.48356280803964269	0.04028	0.09690	0.15389	N	AEFDBCI	0.087427	0.17727	N	-1.35421765901901	0.03081	0.1370932	-1.36039279258476	0.03685	0.1723958	0.998949228135894	0.38034	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.97	-1.97	0.07091	-0.777000	0.04775	0.332000	0.17294	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3717:0.228:0.4003:0.0	5.066	0.13921	315	0.87208	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.02632	1118.33	34	chr22	30292490	.	G	A	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.86;SOR=0.615	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1132,0,1285	18	0	1	0
chr22	30495587	30495587	G	A	exonic	SEC14L4	.	nonsynonymous SNV	SEC14L4:NM_001161368:exon4:c.C230T:p.P77L,SEC14L4:NM_174977:exon4:c.C230T:p.P77L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0828141547166	.	0.000199681	3.306e-05	0	0	0	0	1.504e-05	0	0.0002	3.88e-05	6	154602	rs202227787	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0009	1.392e-05	1.204e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	6.295e-06	4.968e-05	0.0002	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.015	0.52492	D	0.015	0.63109	D	0.648	0.40583	P	0.352	0.42883	B	0.011748	0.29415	N	0.350346	0.62576	0.32745	D	3.515	0.92918	H	-0.89	0.76300	T	-8.21	0.96839	D	0.263	0.29774	-0.3049	0.74848	T	0.512	0.81671	D	10	0.28746036	0.46329	T	0.082814	0.73981	D	0.208	0.49714	0.463	0.53242	0.881795912367	0.88064	0.7420069266650826	0.74146	0.164289705123	0.18538	0.249614804983	0.03727	T	0.094892	0.39510	T	-0.206501	0.19874	T	-0.297732	0.44965	T	0.343521237373352	0.26763	T	0.89741	0.64114	D	0.21236333	0.43586	0.121328555	0.29274	0.21236333	0.43586	0.121328555	0.29274	-7.134	0.55006	T	.	.	0.134	0.29144	B	.;.	.;.	1.969099	0.25016	16.61	0.95358615795014645	0.26754	0.79150	0.39167	D	AEFDBI	0.189790	0.31703	N	-0.284361014364438	0.29752	1.652715	-0.428261885267507	0.24172	1.322185	0.978733471699579	0.29953	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.18	1.85	0.24418	3.543000	0.53387	2.997000	0.35905	-0.807000	0.03101	0.536000	0.27236	0.259000	0.23971	0.011000	0.09372	0.1533:0.0:0.7034:0.1433	6.635	0.22071	334	0.86273	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid 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	.	.	.	.	.	.	.	.	0.02632	1988.33	76	chr22	30495587	.	G	A	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=1014;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.95;SOR=0.659	GT:AD:DP:GQ:PL	0/1:91,75:166:99:2002,0,2590	18	0	1	0
chr22	31623755	31623755	C	T	exonic	PISD	.	nonsynonymous SNV	PISD:NM_001326413:exon3:c.G187A:p.V63I,PISD:NM_178022:exon3:c.G148A:p.V50I,PISD:NM_001326414:exon4:c.G187A:p.V63I,PISD:NM_001326415:exon4:c.G148A:p.V50I,PISD:NM_014338:exon4:c.G148A:p.V50I,PISD:NM_001326417:exon5:c.G148A:p.V50I,PISD:NM_001326419:exon5:c.G148A:p.V50I,PISD:NM_001326416:exon6:c.G148A:p.V50I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00179712	0.0008	0.0002	0	0.0101	0	0	0	0.0001	0.0006468	100	154602	rs183406976	0.0002	0.0002	0.0002	0.0002	0.0048	0.0002	0.0001	0.0042	0.0040	5.974e-05	0.0001	3.827e-05	0.0048	0	0	1.439e-05	0.0005	8.115e-05	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0053	0.0047	7.212e-05	0	0.0003	0	0.0071	0	0	0	0.0005	0	0.925	0.02279	T	1.0	0.02610	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.0	0.08653	N	0.236	0.29889	-0.9918	0.32141	T	0.022	0.09193	T	8	0.007530123	0.00171	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	.	.	0.244522584449	0.26956	0.463088840246	0.33734	T	0.008654	0.07935	T	-0.47849	0.00755	T	-0.452133	0.27460	T	0.00335267733157267	0.00035	T	0.775222	0.42574	T	.	.	.	.	.	.	.	.	-4.851	0.35179	T	.	.	0.075	0.08081	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.792786	0.36715	20.3	0.56868722894971502	0.05645	0.61099	0.31386	D	AEFDBHCI	0.054837	0.10004	N	-0.709309543336589	0.15760	0.7970521	-0.514523066019	0.21758	1.178587	0.999965917621821	0.48965	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.636168	0.56350	0	.	.	5.61	1.48	0.21900	1.581000	0.36167	2.121000	0.30720	0.549000	0.26987	0.935000	0.32453	0.983000	0.30585	0.975000	0.56047	0.0:0.3587:0.0:0.6413	6.268	0.20148	118	0.95237	.;.;.;.;.;.;.	.	.	.	.	.	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	940.33	35	chr22	31623755	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=725;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.678;SOR=0.479	GT:AD:DP:GQ:PL	0/1:53,35:88:99:954,0,1363	18	0	1	0
chr22	32221015	32221015	C	T	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon14:c.G1673A:p.R558H	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	.	0.0020	0.00938498	0.0055	0.0018	0.0024	0.0227	0.0015	0.0019	0.0078	0.0170	0.0051358	794	154602	rs74530943	0.0030	0.0031	0.0027	0.0034	0.0151	0.0030	0.0029	0.0144	0.0141	0.0022	0.0013	0.0001	0.0119	0.0012	0.0023	0.0020	0.0032	0.0151	0.0034	0.0034	0.0030	0.0037	0.0195	0.0031	0.0030	0.0163	0.0151	0.0022	0	0.0009	0	0.0185	0.0012	0	0.0029	0.0028	0.0195	0.067	0.35918	T	0.062	0.45318	T	0.396	0.34753	B	0.077	0.28532	B	0.000003	0.62929	D	0.060319	0.999979	0.53665	D	3.795	0.95366	H	-1.54	0.81640	D	-4.39	0.77225	D	0.415	0.45520	-0.2754	0.75665	T	0.360	0.72178	T	10	0.011101097	0.00244	T	.	.	.	0.369	0.68844	.	.	0.667061428616	0.66425	0.3824672367122118	0.38161	0.709260744387	0.61606	0.340156078339	0.16462	T	0.135292	0.46703	T	-0.335446	0.05709	T	-0.232309	0.51547	T	0.118817867007295	0.14315	T	0.971703	0.89738	D	0.22683	0.45372	0.19507827	0.43165	0.22683	0.45372	0.19507827	0.43164	-8.267	0.62875	D	.	.	0.154	0.34004	B	.	.	3.944963	0.57750	23.9	0.99325729805332119	0.59584	0.93370	0.58035	D	AEFBI	0.610881	0.59954	D	-0.0488394912627333	0.39654	2.341997	-0.0668980013888442	0.36767	2.143983	0.999553041317539	0.40362	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.48	0.38946	4.507000	0.60155	3.222000	0.36859	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9026:0.0:0.0974	10.191	0.42202	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.07895	3773.77	34	chr22	32221015	.	C	T	3773.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.535;DP=750;ExcessHet=0;FS=1.675;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.44;ReadPosRankSum=0.617;SOR=0.536	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1073,0,664	17	1	1	0
chr22	32234959	32234959	G	A	exonic	SLC5A4	.	stopgain	SLC5A4:NM_014227:exon8:c.C799T:p.R267X	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0081869	0.0038	0.0004	0.0003	0.0224	0.0002	5.994e-05	0.0044	0.0151	0.0034023	526	154602	rs76877500	0.0013	0.0013	0.0009	0.0016	0.0135	0.0012	0.0012	0.0128	0.0126	0.0005	6.708e-05	0	0.0119	0	0.0009	4.317e-05	0.0022	0.0135	0.0014	0.0014	0.0010	0.0017	0.0189	0.0012	0.0011	0.0159	0.0148	0.0002	0	0.0002	0	0.0189	0	0	0.0001	0.0005	0.0177	.	.	.	.	.	.	.	.	.	.	.	.	0.000009	0.62929	D	0.110194	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.46274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255348	0.79099	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672116	0.97866	38	0.99807635491410829	0.89174	0.93192	0.57565	D	AEFBI	0.178140	0.30540	N	0.676177170133138	0.78071	6.798408	0.49250172737987	0.67493	5.091283	0.366719979810446	0.19830	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	3.525000	0.53257	2.863000	0.35215	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.516000	0.29383	0.0:0.0:1.0:0.0	15.652	0.76863	285	0.88719	.	.	.	.	.	.	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	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1259.33	37	chr22	32234959	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=770;ExcessHet=0;FS=2.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.713;SOR=0.518	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1273,0,1664	18	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1043.79	39	chr22	36227655	.	C	A	1043.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.684;DP=1698;ExcessHet=0.3672;FS=130.109;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.58;SOR=10.43	GT:AD:DP:GQ:PL	0/1:272,51:323:99:108,0,7394	16	0	3	0
chr22	41238078	41238078	A	G	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.T994C:p.S332P	.	452	1057	12	1	0	14	0.00657895	.	.	.	2347163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.557145678989	.	.	0	.	0	.	.	0	0	0	3.84e-05	1	26028	rs755194551	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0032	0.0030	0	0.0001	0	3.824e-05	0	0.0033	2.95e-05	0.0004	0.0038	0.0002	0.0002	0.0001	0.0003	0.0042	0.0002	0.0001	0.0028	0.0023	2.427e-05	0	0.0004	0	0.0004	0	0	5.952e-05	0.0005	0.0042	0.369	0.11586	T	0.165	0.30926	T	0.815	0.45525	P	0.274	0.40037	B	0.051785	0.22951	N	0.397144	1	0.08975	N	0.47	0.13106	N	0.22	0.59851	T	-0.09	0.08340	N	0.206	0.22870	-0.9785	0.35345	T	0.104	0.38243	T	10	0.044615835	0.03439	T	0.557146	0.95942	D	0.080	0.23350	0.315	0.29096	0.263140351381	0.25927	0.2954393941868553	0.29456	0.0445187300976	0.04807	0.871395349503	0.92767	D	0.002134	0.01537	T	-0.0684965	0.41567	T	-0.336167	0.40778	T	0.284155040979385	0.24345	T	0.552145	0.19060	T	0.08458383	0.19585	0.12655723	0.30478	0.08458383	0.19585	0.12655723	0.30477	-1.843	0.02640	T	.	.	0.225	0.45653	B	.	.	2.142989	0.27288	17.41	0.98117474734074439	0.38407	0.04016	0.09447	N	AEFDBCIJ	0.058885	0.11081	N	-0.444567700248682	0.23925	1.288218	-0.528128382001617	0.21391	1.15694	0.999998958435255	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.166054	0.03999	2	0.603991	0.37454	0	.	.	4.31	-2.29	0.06419	0.706000	0.25365	0.597000	0.19884	0.654000	0.53741	0.026000	0.20160	0.090000	0.22521	0.921000	0.45669	0.1998:0.6025:0.092:0.1057	5.635	0.16809	159	0.93837	Cysteine-rich flanking region, 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	.	.	.	.	.	.	.	.	0.05263	328.83	20	chr22	41238078	.	A	G	328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.386;DP=450;ExcessHet=0.119;FS=1.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.691;SOR=0.421	GT:AD:DP:GQ:PL	0/1:10,10:20:99:258,0,318	17	0	2	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	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	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07895	3181.79	33	chr22	41909797	.	T	C	3181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.098;DP=802;ExcessHet=0.3672;FS=1.588;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.711;SOR=0.833	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1003,0,983	16	0	3	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07895	2758.79	33	chr22	42086248	.	G	A	2758.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.31;DP=838;ExcessHet=0.3672;FS=0.945;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.191;SOR=0.616	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1013,0,1114	16	0	3	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07895	3241.79	39	chr22	42141910	.	T	G	3241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=1499;ExcessHet=0.3672;FS=1.756;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=54.01;MQRankSum=-4.337;QD=8.96;ReadPosRankSum=1.57;SOR=0.599	GT:AD:DP:GQ:PL	0/1:75,65:140:99:1466,0,1893	16	0	3	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ 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	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.07895	7786.79	35	chr22	46262091	.	G	A	7786.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.779;DP=1269;ExcessHet=0.3672;FS=1.097;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.542;SOR=0.608	GT:AD:DP:GQ:PL	0/1:98,93:191:99:2423,0,2722	16	0	3	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016014	0.000000	0.000000	0.023810	0.000000	0.000000	0.016393	0.050000	0.05556	455.61	20	chr22	46262935	.	C	T	455.61	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.09;DP=389;ExcessHet=0.119;FS=4.404;InbreedingCoeff=-0.0715;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.889;SOR=0.605	GT:AD:DP:GQ:PL	0/1:7,12:19:99:266,0,171	16	0	2	1
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,43:92:99:0|1:49922284_CG_C:1299,0,1724:49922284	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,43:92:99:0|1:49922284_CG_C:1299,0,1724:49922284	13	1	4	1
chr22	50245674	50245674	C	T	splicing	HDAC10	NM_032019:exon19:c.1986+1G>A;NM_001159286:exon18:c.1926+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501127	0.58359	T	-0.165793	0.57828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.892246	0.56638	23.8	0.98217453372440133	0.39272	0.67181	0.33340	D	AEFDGBHCI	.	.	.	0.630830857562509	0.75133	6.252496	0.382891127134051	0.60511	4.239405	0.999999966293668	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.064036	0.01829	0	0.089488	0.02477	0	0.405713	0.37764	4.47	3.43	0.38372	0.645000	0.24470	2.344000	0.32272	0.524000	0.24156	0.255000	0.24900	0.999000	0.35428	0.528000	0.29660	0.1851:0.8149:0.0:0.0	11.133	0.47581	654	0.62520	.;.;.	.	.	.	.	.	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	671.33	35	chr22	50245674	.	C	T	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.596;SOR=0.826	GT:AD:DP:GQ:PL	0/1:19,21:40:99:685,0,512	18	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:31:0|1:10469688_G_A:31,0,4622:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:31:0|1:10469688_G_A:31,0,4622:10469688	8	0	10	1
chrX	14009058	14009058	T	A	exonic	GEMIN8	.	nonsynonymous SNV	GEMIN8:NM_001042480:exon4:c.A584T:p.E195V,GEMIN8:NM_001042479:exon5:c.A584T:p.E195V,GEMIN8:NM_017856:exon5:c.A584T:p.E195V	.	440	1058	18	6	0	30	0.0139795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	0.0014	0.0246358	0.0131	0.0015	0.0202	0.0987	0	0.0014	0.0142	0.0217	0.011397	1762	154602	rs3747421	0.0058	0.0058	0.0055	0.0063	0.0955	0.0057	0.0056	0.0925	0.0914	0.0009	0.0173	0.0027	0.0955	0.0001	0.0051	0.0013	0.0098	0.0219	0.0059	0.0062	0.0055	0.0066	0.0982	0.0055	0.0053	0.0897	0.0864	0.0018	0	0.0078	0.0038	0.0982	0.0002	0	0.0016	0.0111	0.0225	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	7.97387e-08	0.58761	P	2.605	0.76211	M	0.76	0.49919	T	-4.12	0.75058	D	0.14	0.21188	-0.5633	0.66278	T	0.075	0.30272	T	9	0.0020343065	0.00029	T	.	.	.	0.279	0.59619	.	.	.	.	0.8670984730594361	0.86674	1.15350077271	0.79298	0.400167167187	0.25091	T	0.06697	0.33080	T	-0.315645	0.07260	T	-0.139326	0.60176	T	0.022953874866104	0.01018	T	0.817618	0.47476	T	0.6573314	0.75756	0.53197056	0.72956	0.6573314	0.75757	0.53197056	0.72956	-3.896	0.22243	T	.	.	0.218	0.44834	B	.;.	.;.	3.788647	0.54517	23.5	0.99111258367509258	0.52725	0.98721	0.86006	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999762872	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	5.42	0.78666	5.660000	0.67687	3.319000	0.37529	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	13.703	0.62101	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008984	0.000000	0.001855	0.000000	0.000000	0.000000	0.035398	0.021053	0.05263	3265.83	34	chrX	14009058	.	T	A	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.091;DP=826;ExcessHet=0.119;FS=1.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.86;SOR=0.727	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1874,0,1414	17	0	2	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0027	0.0032	0.0017	0.0064	0.0026	0.0026	0.0043	0.0041	0.0022	0.0029	0.0002	0.0019	0.0015	0.0064	0.0027	0.0033	0.0049	0.0028	0.0033	0.0029	0.0025	0.0102	0.0025	0.0024	0.0062	0.0049	0.0019	0.0018	0.0036	0	0.0036	0.0010	0.0055	0.0032	0.0009	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	14085.3	83	chrX	24364256	.	T	TTGCTGCTGCTGCTGC	14085.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=1981;ExcessHet=0;FS=0;InbreedingCoeff=0.8721;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=34.1;ReadPosRankSum=-0.352;SOR=0.756	GT:AD:DP:GQ:PL	0/1:2,38:77:99:2713,1236,1408	18	0	1	0
chrX	34131608	34131608	C	T	exonic	FAM47A	.	nonsynonymous SNV	FAM47A:NM_203408:exon1:c.G671A:p.R224H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00142311231289	.	.	3.466e-05	0	0	0	0	2.106e-05	0	0.0002	2.59e-05	4	154602	rs753875155	5.107e-05	5.193e-05	4.772e-05	5.786e-05	0.0001	4.033e-05	3.624e-05	4.781e-05	4.017e-05	0	2.851e-05	0	0	0	0	5.827e-05	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923	0.02292	T	0.745	0.04895	T	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.02	0.21119	T	0.97	0.01467	N	0.013	0.00142	-0.9750	0.36125	T	0.021	0.08963	T	8	0.03885123	0.02333	T	0.001423	0.02113	T	0.003	0.00094	0.192	0.10304	0.043077524339	0.03247	0.03844049314294749	0.03790	0.856441069044	0.68770	0.236572429538	0.02490	T	0.002	0.01223	T	-0.797878	0.00008	T	-1.09916	0.00028	T	0.0559304960310872	0.06513	T	0.561144	0.19645	T	0.032341395	0.03241	0.08106489	0.18393	0.032341395	0.03241	0.08106489	0.18393	-5.218	0.39124	T	.	.	0.101	0.21950	B	.;.	.;.	-0.416172	0.02152	0.208	0.49473803813309969	0.04216	0.00102	0.00658	N	AEFBI	.	.	.	.	.	.	.	.	.	8.1752606193978E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	-0.47	0.11525	-1.493000	0.02403	-10.131000	0.00736	-1.701000	0.00757	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	937	0.14592	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3337.33	51	chrX	34131608	.	C	T	3337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.159;DP=1052;ExcessHet=0;FS=0.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-0.931;QD=13.96;ReadPosRankSum=-1.122;SOR=0.675	GT:AD:DP:GQ:PL	0/1:112,127:239:99:3351,0,2805	18	0	1	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	144.97	97	chrX	43711977	.	G	C	144.97	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.222;DP=946;ExcessHet=0.3672;FS=157.29;InbreedingCoeff=-0.1703;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.46;SOR=8.229	GT:AD:DP:GQ:PL	0/1:71,14:85:62:62,0,2578	12	0	3	4
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	0/1:95,87:182:99:2224,0,2104	17	1	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	40.52	107	chrX	49039321	.	G	A	40.52	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.307;DP=1069;ExcessHet=0.3672;FS=260.807;InbreedingCoeff=-0.1459;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=-0.514;SOR=8.349	GT:AD:DP:GQ:PL	0/1:102,31:133:10:10,0,1656	12	0	3	4
chrX	49073822	49073822	G	A	exonic	PRAF2	.	nonsynonymous SNV	PRAF2:NM_007213:exon1:c.C166T:p.L56F	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0051	0.00211921	0.0041	0.0006	0.0027	0	0.0005	0.0065	0	0.0012	0.003965	613	154602	rs34565429	0.0056	0.0056	0.0056	0.0055	0.0068	0.0055	0.0054	0.0067	0.0066	0.0006	0.0018	0.0004	0	0.0005	0.0022	0.0068	0.0034	0.0017	0.0039	0.0040	0.0042	0.0033	0.0072	0.0036	0.0035	0.0066	0.0064	0.0010	0.0029	0.0018	0.0004	0	0.0003	0	0.0072	0.0039	0.0007	0.276	0.15717	T	1.0	0.01155	T	0.014	0.16867	B	0.019	0.18783	B	0.000676	0.42516	N	0.096199	0.999999	0.20048	N	0.07	0.08264	N	-1.34	0.79944	T	-2.41	0.52938	N	0.069	0.04188	-1.0325	0.19650	T	0.038	0.16591	T	10	0.0042480826	0.00085	T	.	.	.	0.042	0.11227	.	.	0.213499824651	0.20940	0.7333239176180363	0.73277	.	.	.	.	.	0.007076	0.06498	T	-0.486733	0.00677	T	-0.466807	0.25860	T	0.00598326716629102	0.00066	T	0.637336	0.25103	T	0.055472013	0.10785	0.084444396	0.19427	0.055472013	0.10784	0.084444396	0.19427	-4.507	0.30980	T	.	.	0.106	0.31507	B	.;.	.;.	1.712149	0.21803	15.36	0.92726688955401371	0.22225	0.37006	0.25663	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999926389546	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.23	3.37	0.37692	1.620000	0.36586	6.811000	0.56649	-0.113000	0.14837	0.401000	0.26178	1.000000	0.68203	0.949000	0.49496	0.1098:0.0:0.8902:0.0	9.06	0.35591	13	0.98894	.;.	.	.	.	.	.	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	0.001378	0.000000	0.003711	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3263.33	37	chrX	49073822	.	G	A	3263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=909;ExcessHet=0;FS=3.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.607;SOR=0.503	GT:AD:DP:GQ:PL	0/1:119,129:248:99:3277,0,2766	18	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	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	0/1:132,577:709:99:18501,0,1820	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	0/1:677,109:786:99:835,0,21328	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	0/1:682,94:776:99:.:.:766,0,19843:.	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	0/1:613,74:687:99:.:.:475,0,18435:.	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	0/1:168,470:638:99:14125,0,3070	0	0	19	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|1:445,42:487:99:0|1:55146247_G_C:361,0,18217:55146247	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|1:433,41:474:99:0|1:55146247_G_C:367,0,17824:55146247	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	0/1:182,272:454:99:7324,0,5005	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|1:419,38:457:99:0|1:55146247_G_C:334,0,17459:55146247	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	0/1:120,226:346:99:6273,0,2762	0	0	19	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	0/1:221,216:437:99:5352,0,5546	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	0/1:27,38:65:99:915,0,525	17	1	1	0
chrX	108157028	108157028	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287760:exon43:c.G4874A:p.R1625H,COL4A6:NM_001287759:exon44:c.G4973A:p.R1658H,COL4A6:NM_001847:exon45:c.G5048A:p.R1683H,COL4A6:NM_033641:exon45:c.G5045A:p.R1682H,COL4A6:NM_001287758:exon46:c.G5096A:p.R1699H	.	.	.	.	.	.	.	.	.	.	.	3306126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.921	0.52343878636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282722908	1.002e-05	1.002e-05	8.168e-06	1.377e-05	5.55e-05	5.38e-06	3.93e-06	1.473e-05	7.08e-06	0	0	0	0	0	0	9.502e-06	0	5.55e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.84481	D	0.001258	0.39669	N	0.000000	0.999925	0.51308	D	4.33	0.98384	H	-4.35	0.97292	D	-4.76	0.81030	D	0.587	0.60749	1.087	0.99127	D	0.969	0.99017	D	10	0.7830559	0.78016	D	0.523439	0.95481	D	0.921	0.98003	0.814	0.92925	0.998086811313	0.99806	0.948990532221012	0.94882	0.224029212685	0.24927	0.627158820629	0.56742	T	0.848552	0.96531	D	0.684831	0.99919	D	0.745936	0.99919	D	0.981032073497772	0.73684	D	0.979802	0.93081	D	0.82646483	0.85658	0.74229556	0.84767	0.82646483	0.85660	0.74229556	0.84768	-8.641	0.65359	D	.	.	0.567	0.74608	P	.;.;.;.;.;.	.;.;.;.;.;.	4.140339	0.62030	24.4	0.99885430939548892	0.96049	0.95471	0.64853	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999773896634548	0.42865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	4.99	0.65942	4.950000	0.63305	3.121000	0.36400	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	18.060	0.89300	96	0.96030	.;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2471.33	34	chrX	108157028	.	C	T	2471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.534;DP=864;ExcessHet=0;FS=4.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.841;SOR=1.015	GT:AD:DP:GQ:PL	0/1:118,98:216:99:2485,0,2916	18	0	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	0/1:81,73:154:99:2043,0,2073	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	0/1:70,74:144:99:1823,0,1837	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	0/1:50,36:93:99:217,0,786	2	0	17	0
chrX	154786265	154786265	G	A	exonic	MPP1	.	nonsynonymous SNV	MPP1:NM_001166460:exon6:c.C565T:p.R189W,MPP1:NM_001166461:exon6:c.C556T:p.R186W,MPP1:NM_002436:exon6:c.C616T:p.R206W,MPP1:NM_001166462:exon7:c.C526T:p.R176W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.230517246685	.	0.000264901	2.282e-05	0.0001	0	0.0002	0	0	0	0	3.88e-05	6	154602	rs782521600	2.459e-05	2.458e-05	3.131e-05	1.101e-05	0.0002	1.684e-05	1.443e-05	2.632e-05	1.429e-05	0	0	0	9.936e-05	0	0.0002	2.494e-05	2.17e-05	1.847e-05	1.787e-05	1.741e-05	1.285e-05	2.931e-05	0.0003	2.97e-06	1.11e-06	.	.	0	0	9.404e-05	0	0.0003	0	0	0	0	0	0.004	0.65419	D	0.001	0.83351	D	0.994	0.90584	D	0.883	0.62698	P	0.000178	0.48594	D	0.175219	0.99989	0.50595	D	2.835	0.82492	M	-2.15	0.86481	D	-6.52	0.91695	D	0.45	0.48780	0.571	0.91518	D	0.776	0.92398	D	10	0.55052227	0.64229	D	0.230517	0.88234	D	0.699	0.89145	0.605	0.73706	0.935901096463	0.93523	0.8255856070435866	0.82516	0.507338160689	0.48918	0.687044560909	0.65281	T	0.284209	0.65698	T	0.0189069	0.54234	T	-0.0182824	0.69142	D	0.695869982242584	0.40522	D	0.916908	0.71149	D	0.6205483	0.73792	0.6365208	0.78777	0.6205483	0.73794	0.6365208	0.78778	-8.532	0.64641	D	.	.	0.183	0.53936	B	.;.;.;.;.;.	.;.;.;.;.;.	4.568415	0.72054	25.8	0.99911079665236957	0.98022	0.97150	0.72983	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999916424456	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	2.23	0.27189	1.506000	0.35354	4.084000	0.41759	0.676000	0.76740	0.999000	0.42656	0.994000	0.32194	0.992000	0.67800	0.0855:0.0:0.6587:0.2558	7.567	0.27050	81	0.96616	SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;.;.;SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1521.33	35	chrX	154786265	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=756;ExcessHet=0;FS=2.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.195;SOR=0.486	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1535,0,1545	18	0	1	0