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	NSWES736	WT	HH	HZ	NC
chr1	5909207	5909207	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon12:c.C1448T:p.P483L	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4028489	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0766919256262	.	.	3.322e-05	0.0002	0	0	0	0	0	9.739e-05	1.29e-05	2	154602	rs759608529	1.655e-05	1.779e-05	8.217e-06	2.5e-05	0.0003	1.12e-05	9.41e-06	0.0002	0.0002	0	0	0	0	0	0	0	1.667e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.348	0.17585	T	0.218	0.30213	B	0.087	0.29615	B	0.017297	0.27761	N	0.277119	0.999999	0.08975	N	0	0.06538	N	-2.22	0.87038	D	-0.73	0.20576	N	0.339	0.38027	-0.5197	0.67925	T	0.456	0.78837	T	10	0.12449944	0.23648	T	0.076692	0.72592	D	0.121	0.33580	0.218	0.13932	0.841197070452	0.83968	0.2574261887012353	0.25656	0.191221548169	0.21445	0.436398625374	0.30085	T	0.099044	0.40346	T	-0.205596	0.20004	T	-0.317766	0.42820	T	0.0796107303850055	0.09937	T	0.825517	0.48813	T	0.030652713	0.02766	0.029704053	0.01339	0.030652713	0.02766	0.029704053	0.01338	-3.814	0.22393	T	0.5245637362265378	0.59632	0.074	0.09336	B	.;.	.;.	1.351930	0.17595	13.26	0.59087658180853408	0.06142	0.04935	0.10693	N	AEFDBI	0.055825	0.10270	N	-0.722074165913149	0.15403	0.7758977	-0.828625643278086	0.13803	0.7179888	0.0742946682859863	0.15661	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.45	1.47	0.21832	2.848000	0.47978	5.287000	0.48197	0.676000	0.76740	0.047000	0.21291	0.999000	0.35428	0.031000	0.13245	0.1278:0.0:0.6357:0.2365	3.885	0.08599	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	.	.	.	.	.	.	.	.	0.08333	1291.83	92	chr1	5909207	.	G	A	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.18;DP=255;ExcessHet=0;FS=5.328;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.555;SOR=0.916	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1302,0,1029	5	0	1	0
chr1	7798580	7798580	T	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon7:c.T700C:p.Y234H,PER3:NM_001289862:exon7:c.T700C:p.Y234H,PER3:NM_001289863:exon7:c.T700C:p.Y234H,PER3:NM_001377275:exon7:c.T700C:p.Y234H,PER3:NM_001377276:exon7:c.T700C:p.Y234H,PER3:NM_016831:exon7:c.T697C:p.Y233H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0159355567343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	3.12	0.87914	M	1.34	0.34841	T	-5.0	0.82341	D	0.546	0.59901	-0.6515	0.62649	T	0.215	0.57626	T	10	0.63251805	0.68598	D	0.015936	0.36945	T	0.371	0.69016	0.685	0.82271	0.524480850804	0.52094	0.7212140417289336	0.72064	0.44892956773	0.44705	0.573261618614	0.49138	T	0.249924	0.75531	T	0.221582	0.75925	D	0.0805113	0.75612	D	0.994284927845001	0.85484	D	0.860814	0.55431	D	0.8342921	0.86203	0.64821965	0.79425	0.8342921	0.86204	0.64821965	0.79426	-4.705	0.33465	T	0.6889902048281922	0.76643	0.323	0.62391	B	.;.;.;.;.	.;.;.;.;.	2.863659	0.37848	20.6	0.99577717465541504	0.72802	0.93595	0.58648	D	AEFBHCI	0.398464	0.47413	N	0.339579377633762	0.58191	3.990055	0.173955871784746	0.48424	3.058576	0.99996829061186	0.48965	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	4.247000	0.58542	0.358000	0.17546	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.051000	0.15275	0.0:0.0:0.0:1.0	12.897	0.57496	694	0.58444	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1480.83	141	chr1	7798580	.	T	C	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=315;ExcessHet=0;FS=5.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.377;SOR=1.154	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1491,0,2226	5	0	1	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	0.08333	3189.83	240	chr1	7830093	.	C	T	3189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.235;DP=636;ExcessHet=0;FS=5.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.386;SOR=1.03	GT:AD:DP:GQ:PL	0/1:125,115:240:99:3200,0,3447	5	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	61.04	27	chr1	7933282	.	T	C	61.04	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.973;DP=162;ExcessHet=0.4139;FS=21.967;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.72;SOR=4.357	GT:AD:DP:GQ:PL	0/1:20,7:27:26:26,0,303	3	0	2	1
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	.	.	.	.	.	.	.	.	0.25	1750.23	207	chr1	10326244	.	G	C	1750.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,58:207:99:0|1:10326244_G_C:1017,0,5227:10326244	3	0	3	0
chr1	11827153	11827153	A	G	exonic	CLCN6	.	nonsynonymous SNV	CLCN6:NM_001256959:exon9:c.A706G:p.I236V,CLCN6:NM_001286:exon10:c.A772G:p.I258V	.	435	1085	2	0	0	2	0.00092081	.	.	.	1453659	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.472	0.238419512938	.	0.000199681	9.077e-05	0	8.658e-05	0.0003	0.0002	6.003e-05	0.0022	0	7.76e-05	12	154602	rs201010581	4.857e-05	4.857e-05	5.309e-05	4.401e-05	0.0005	3.926e-05	3.605e-05	0.0002	0.0002	0	8.945e-05	0	0.0004	3.744e-05	0.0005	3.058e-05	0.0001	5.797e-05	3.285e-05	3.281e-05	3.856e-05	2.687e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.411e-05	0	0	0.563	0.12511	T	0.352	0.20293	T	0.997	0.70673	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-3.4	0.94260	D	-0.54	0.16598	N	0.569	0.59223	-0.7727	0.56709	T	0.200	0.55640	T	9	0.5547419	0.64454	D	0.23842	0.88586	D	0.685	0.88490	.	.	0.825622178091	0.82397	0.6286500505548446	0.62798	1.00116411819	0.74409	0.618605434895	0.55532	T	0.496599	0.81883	T	0.0803677	0.62083	D	0.169815	0.81398	D	0.250325858592987	0.22887	T	0.748625	0.41328	T	0.1710401	0.37715	0.079358086	0.17859	0.1710401	0.37714	0.079358086	0.17858	-4.047	0.27627	T	.	.	0.113	0.22135	B	.;.;.	.;.;.	3.052574	0.40963	21.3	0.99721921432994209	0.82125	0.98459	0.82997	D	AEFBI	0.754956	0.69467	D	0.0820320506450963	0.45626	2.815952	0.23471517587948	0.51783	3.358032	0.999999953256665	0.74766	0.744818	0.98587	0	0.653731	0.59785	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.19	5.19	0.71428	7.161000	0.77080	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	1.0:0.0:0.0:0.0	14.217	0.65346	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001526	0.000000	0.000000	0.002941	0.100000	0.000000	0.000000	0.000000	0.08333	1718.83	142	chr1	11827153	.	A	G	1718.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=317;ExcessHet=0;FS=1.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.232;SOR=0.561	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1729,0,2258	5	0	1	0
chr1	12827557	12827557	A	C	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.T567G:p.I189M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.000589609138837	.	0.00199681	0.0011	0.0041	0.0018	0	0	0.0009	0.0011	0.0003	0.0009508	147	154602	rs186975145	0.0008	0.0008	0.0008	0.0007	0.0077	0.0007	0.0007	0.0059	0.0052	0.0047	0.0023	0.0027	0	0	0.0077	0.0006	0.0016	0.0001	0.0019	0.0019	0.0019	0.0019	0.0043	0.0017	0.0016	0.0038	0.0036	0.0043	0	0.0031	0.0032	0	0	0.0139	0.0007	0.0010	0	.	.	.	0.064	0.44905	T	.	.	.	.	.	.	0.017593	0.27685	N	0.336904	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	-1.0386	0.17740	T	0.015	0.06042	T	10	0.004428059	0.00090	T	5.9E-4	0.00260	T	.	.	.	.	0.0297737177859	0.01360	0.5581545414682065	0.55742	.	.	0.689267396927	0.65601	T	.	.	.	-0.130451	0.31422	T	-0.42516	0.30486	T	0.000953873510070375	0.00009	T	.	.	.	0.031912856	0.03119	0.03512223	0.02704	0.031912856	0.03119	0.03512223	0.02704	-8.168	0.62209	D	.	.	0.142	0.31177	B	.	.	1.209046	0.16017	12.26	0.32382434261938464	0.01873	0.00654	0.02841	N	AEI	0.026876	0.02097	N	-1.56754857853899	0.01434	0.06257597	-1.70638859721417	0.01109	0.04986104	5.2833101956045E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-2.85	0.05392	0.131000	0.15696	-20.000000	0.00162	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4078:0.2447:0.3474:0.0	3.02	0.05704	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010328	0.024590	0.017906	0.013274	0.000000	0.008772	0.000000	0.000000	0.08333	5254.83	360	chr1	12827557	.	A	C	5254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.099;DP=886;ExcessHet=0;FS=0.795;MLEAC=1;MLEAF=0.083;MQ=52.57;MQRankSum=-0.573;QD=14.6;ReadPosRankSum=0.8;SOR=0.754	GT:AD:DP:GQ:PL	0/1:168,192:360:99:5265,0,4633	5	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	0.25	3686.12	541	chr1	16563946	.	C	T	3686.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.933;DP=3724;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.54;MQRankSum=-8.143;QD=2.36;ReadPosRankSum=0.349;SOR=0.825	GT:AD:DP:GQ:PL	0/1:470,71:541:99:811,0,13876	3	0	3	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	0.25	5064.03	698	chr1	16563989	.	G	C	5064.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.551;DP=4498;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.84;MQRankSum=-4.067;QD=2.43;ReadPosRankSum=-0.537;SOR=0.817	GT:AD:DP:GQ:PL	0/1:599,99:698:99:954,0,17351	3	0	3	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	0.3333	27548.0	710	chr1	16564107	.	T	G	27548.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.125;DP=4528;ExcessHet=3.1439;FS=1.2;MLEAC=4;MLEAF=0.333;MQ=55.43;MQRankSum=10.37;QD=9.21;ReadPosRankSum=-0.193;SOR=0.834	GT:AD:DP:GQ:PL	0/1:633,77:710:99:354,0,23182	2	0	4	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	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:365,181:546:99:4187,0,11968	0	0	6	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	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:389,134:523:99:2746,0,13314	0	0	6	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	86.83	471	chr1	16569091	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.405;DP=1175;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.083;MQ=42.42;MQRankSum=-0.705;QD=0.18;ReadPosRankSum=0.52;SOR=0.668	GT:AD:DP:GQ:PL	0/1:415,56:471:97:97,0,10726	5	0	1	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	0.25	2153.18	221	chr1	16577387	.	T	C	2153.18	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.21;DP=1295;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=40.47;MQRankSum=0.736;QD=3.18;ReadPosRankSum=-0.328;SOR=0.775	GT:AD:DP:GQ:PL	0/1:187,34:221:99:548,0,5363	3	0	3	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	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	0.016304	0.000000	0.022039	0.008772	0.000000	0.008772	0.015267	0.025000	0.1667	121.06	130	chr1	16585589	.	A	G	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.14;DP=513;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.19;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.14;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,10:130:43:0|1:16585589_A_G:43,0,4973:16585589	4	0	2	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013253	0.000000	0.013736	0.008772	0.000000	0.008772	0.015267	0.020833	0.1667	121.06	130	chr1	16585590	.	T	C	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.99;DP=512;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.17;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.583;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,10:130:43:0|1:16585589_A_G:43,0,4973:16585589	4	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	0/1:58,29:87:99:762,0,1807	0	2	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	294.06	269	chr1	16760446	.	C	T	294.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.64;DP=1695;ExcessHet=0.4139;FS=14.924;MLEAC=2;MLEAF=0.167;MQ=46.16;MQRankSum=0.679;QD=0.51;ReadPosRankSum=-1.193;SOR=2.284	GT:AD:DP:GQ:PL	0/1:243,26:269:41:41,0,7115	4	0	2	0
chr1	18482857	18482857	G	C	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1876C:p.A626P	.	431	1065	24	2	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	.	0.0002	0.0339457	0.0195	0.0005	0.0012	0.0001	0	0.0002	0.0176	0.1335	0.0157695	2438	154602	rs137875112	0.0077	0.0077	0.0043	0.0111	0.1216	0.0076	0.0075	0.1197	0.1189	0.0005	0.0002	0	7.561e-05	0	0.0038	0.0002	0.0082	0.1216	0.0045	0.0045	0.0025	0.0065	0.1363	0.0042	0.0041	0.1277	0.1243	0.0002	0	0.0003	0	0.0006	0	0	7.35e-05	0.0019	0.1363	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.67	0.78151	M	-0.28	0.67543	T	-4.99	0.82221	D	0.276	0.31253	0.069	0.83603	D	0.508	0.81498	D	10	0.002309084	0.00034	T	.	.	.	0.669	0.87722	.	.	.	.	0.855593517401203	0.85522	1.34841275358	0.84028	0.710741639137	0.68701	T	0.134846	0.46632	T	-0.162255	0.26414	T	0.101277	0.76992	D	0.0808052761480006	0.10090	T	0.818018	0.47523	T	0.93457544	0.94697	0.8894984	0.94231	0.93457544	0.94697	0.8894984	0.94231	-10.349	0.75975	D	.	.	0.383	0.58588	A	.	.	5.220644	0.87614	29.3	0.99748549339016168	0.84077	0.99423	0.95841	D	AEFDBHI	0.957521	0.97676	D	0.813802399230385	0.86962	9.056622	0.76634760555131	0.87372	9.199578	0.999999958725453	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	8.019000	0.89128	11.799000	0.96598	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.059	0.86417	975	0.05339	.	.	.	.	.	.	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	0.016616	0.000000	0.000000	0.011696	0.050000	0.000000	0.003049	0.068182	0.08333	1278.83	106	chr1	18482857	.	G	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.862;DP=302;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-2.688;SOR=0.493	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1289,0,1786	5	0	1	0
chr1	20721901	20721901	A	C	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon9:c.T911G:p.L304R,SH2D5:NM_001103161:exon10:c.T1163G:p.L388R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0495488266521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.007	0.69154	D	0.997	0.70673	D	0.961	0.70482	D	0.011870	0.29372	N	0.145763	0.677106	0.33198	D	1.735	0.44892	L	-0.08	0.63911	T	-1.04	0.27259	N	0.174	0.21710	-0.5149	0.68106	T	0.297	0.66858	T	10	0.2631122	0.43785	T	0.049549	0.63858	D	0.129	0.35316	0.361	0.36548	0.801249722239	0.79939	0.6618741171561944	0.66124	0.169488412035	0.19104	0.600802659988	0.53018	T	0.021863	0.16951	T	-0.105144	0.35572	T	-0.388809	0.34691	T	0.731326937675476	0.42279	D	0.537446	0.18074	T	0.15757546	0.35499	0.14599909	0.34605	0.15757546	0.35498	0.14599909	0.34604	-3.152	0.11903	T	.	.	0.117	0.23640	B	.;.	.;.	3.103764	0.41837	21.4	0.99643580770613782	0.76819	0.86123	0.45345	D	AEFDBI	0.398115	0.47392	N	0.0711729682668847	0.45120	2.774042	0.0570084072478574	0.42412	2.564803	0.999999798120521	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.01	3.87	0.43823	1.969000	0.40134	6.053000	0.53107	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.8447:0.1553:0.0:0.0	11.122	0.47515	838	0.37812	.;SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1140.83	106	chr1	20721901	.	A	C	1140.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.65;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.019;SOR=0.744	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1151,0,1546	5	0	1	0
chr1	21885130	21885130	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon11:c.G1238A:p.R413Q,HSPG2:NM_005529:exon11:c.G1238A:p.R413Q	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1485	37	0	0	37	0.0123046	.	.	.	279231	Schwartz-Jampel_syndrome|not_provided|Lethal_Kniest-like_syndrome|HSPG2-related_disorder|not_specified	MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0238197730934	0.0021	0.000998403	0.0039	0.0004	0.0018	0.0001	0.0020	0.0042	0.0052	0.0088	0.0032018	495	154602	rs140621959	0.0026	0.0026	0.0024	0.0028	0.0147	0.0026	0.0025	0.0121	0.0112	0.0003	0.0009	0.0020	7.567e-05	0.0012	0.0147	0.0025	0.0034	0.0075	0.0020	0.0020	0.0021	0.0019	0.0072	0.0018	0.0018	0.0054	0.0047	0.0003	0	0.0005	0.0014	0	0.0015	0	0.0033	0.0043	0.0072	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.050725	0.23044	N	0.218384	0.999138	0.21587	N	0.15	0.08895	N	-0.91	0.75001	T	1.99	0.00412	N	0.127	0.12055	-1.0073	0.27758	T	0.157	0.48858	T	10	0.005518347	0.00122	T	0.02382	0.46796	T	0.140	0.37593	.	.	0.430126000877	0.42631	0.25159280604464684	0.25073	0.230382419694	0.25588	0.259878456593	0.04877	T	0.076264	0.35377	T	-0.529009	0.00389	T	-0.527956	0.19491	T	0.00212338852226029	0.00022	T	0.20368	0.02351	T	0.033911545	0.03704	0.03853892	0.03744	0.033911545	0.03704	0.03853892	0.03744	-1.412	0.01593	T	.	.	0.054	0.00328	B	.	.	2.511644	0.32436	19.04	0.45123287714577986	0.03519	0.17275	0.19766	N	AEFDBCI	0.045317	0.07398	N	-0.715268478795039	0.15593	0.7871554	-0.503924553067884	0.22046	1.195537	0.999999190658706	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.46	4.33	0.51083	2.786000	0.47479	3.448000	0.38427	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.867000	0.41218	0.0:0.0826:0.0:0.9174	9.779	0.39804	781	0.47532	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0.015121	0.005102	0.008174	0.032164	0.000000	0.008621	0.021472	0.026515	0.08333	1292.83	83	chr1	21885130	.	C	T	1292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.32;DP=287;ExcessHet=0;FS=8.104;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-1.213;SOR=1.69	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1303,0,955	5	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3931.89	33	chr1	26282323	.	A	*	3931.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.907;DP=117;ExcessHet=0.4139;FS=3.728;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.49;ReadPosRankSum=0.978;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:33:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1438,995,954:26282320	5	0	1	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2280.3	38	chr1	26282334	.	TGGGGCCG	*	2280.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.032;DP=146;ExcessHet=2.3007;FS=1.693;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=0.352;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:38:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1589,1200,1213:26282320	4	0	2	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2236.3	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2236.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=156;ExcessHet=2.3007;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.907;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:37:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1547,1177,1192:26282320	4	0	2	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:37:93:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1297,93,0:26282320	1	1	4	0
chr1	27006665	27006665	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G557A:p.R186H	.	431	1087	4	0	0	4	0.00183655	.	.	.	3609709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0205164282446	0.0002	.	0.0001	9.651e-05	0	0	0	4.5e-05	0.0011	0.0006	9.7e-05	15	154602	rs370934035	5.541e-05	5.541e-05	1.77e-05	9.351e-05	0.0007	4.543e-05	4.155e-05	0.0006	0.0005	0	2.236e-05	0	0	0	0	1.079e-05	8.279e-05	0.0007	7.223e-05	7.218e-05	5.14e-05	9.398e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	9.622e-05	0	0	0	0	0	0	4.41e-05	0	0.0008	0.023	0.48186	D	0.01	0.65728	D	0.5	0.37145	P	0.243	0.38752	B	0.000000	0.84330	D	0.046976	1	0.81001	D	.	.	.	1.71	0.26737	T	-4.39	0.77225	D	0.411	0.45142	-0.8603	0.51241	T	0.124	0.42778	T	10	0.24005786	0.41158	T	0.020516	0.43131	T	0.275	0.59130	.	.	0.451977122513	0.44822	0.588520856768765	0.58782	0.502531134374	0.48607	0.712020337582	0.68886	T	0.203686	0.56223	T	-0.166016	0.25841	T	-0.100402	0.63367	T	0.376024186611176	0.28029	T	0.925407	0.72589	D	0.38560495	0.59718	0.22331661	0.47205	0.38560495	0.59719	0.22331661	0.47204	-9.652	0.71802	D	.	.	0.119	0.24294	B	.	.	3.714730	0.53052	23.3	0.9991473218884972	0.98309	0.65785	0.32854	D	AEFDBCI	0.768070	0.70374	D	0.415362534341255	0.62266	4.439734	0.457967794702563	0.65231	4.797623	0.999999999999999	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.749866	0.98131	0	0.567892	0.33627	0	.	.	5.2	5.2	0.71720	4.165000	0.57984	3.372000	0.37939	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.911	0.92459	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2583.83	220	chr1	27006665	.	C	T	2583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=412;ExcessHet=0;FS=5.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.381;SOR=0.42	GT:AD:DP:GQ:PL	0/1:122,98:220:99:2594,0,3282	5	0	1	0
chr1	31373007	31373007	T	C	exonic	FABP3	.	nonsynonymous SNV	FABP3:NM_001320996:exon1:c.A8G:p.D3G,FABP3:NM_004102:exon1:c.A8G:p.D3G	.	.	.	.	.	.	.	.	.	.	.	732388	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.0184774666606	.	0.00159744	0.0005	0	0	0.0074	0	1.507e-05	0	0	0.0004981	77	154602	rs17848124	0.0002	0.0002	0.0003	0.0002	0.0084	0.0002	0.0002	0.0077	0.0074	0	0	0	0.0084	0	0	8.993e-07	0.0003	6.956e-05	0.0004	0.0004	0.0003	0.0005	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	6.533e-05	0	0.0110	0	0	0	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.346	0.33564	B	0.533	0.48638	P	0.001460	0.38980	N	0.278618	0.999965	0.52935	D	2.92	0.84325	M	0.93	0.44065	T	-4.55	0.78553	D	0.395	0.43610	-0.8778	0.49935	T	0.120	0.41907	T	10	0.008144945	0.00185	T	0.018477	0.40558	T	0.093	0.26882	.	.	0.531245695338	0.52774	0.5708190595413535	0.57009	0.171403570723	0.19308	0.445878207684	0.31381	T	0.47397	0.80561	T	-0.424061	0.01612	T	-0.370234	0.36861	T	0.220492344113128	0.21489	T	0.828317	0.49240	T	0.73878044	0.80222	0.61218506	0.77436	0.73878044	0.80224	0.61218506	0.77437	-9.685	0.72005	D	.	.	0.220	0.45714	B	.;.	.;.	4.578268	0.72295	25.8	0.99534775742638537	0.70087	0.74390	0.36391	D	ALL	0.871357	0.79271	D	0.177038441262608	0.50096	3.20313	0.215616426648581	0.50713	3.26054	0.999999984707595	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.71	3.54	0.39650	4.204000	0.58258	6.127000	0.53864	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1722:0.8278	9.872	0.40351	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1154.83	80	chr1	31373007	.	T	C	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=251;ExcessHet=0;FS=3.191;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.043;SOR=1.157	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1165,0,949	5	0	1	0
chr1	32205706	32205706	A	G	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon1:c.A25G:p.K9E,IQCC:NM_018134:exon1:c.A25G:p.K9E	.	409	1112	1	0	0	1	0.000449438	.	.	.	3274858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0079180477824	.	0.000199681	0.0001	0	0	0.0011	0	1.868e-05	0.0016	0.0001	8.41e-05	13	154602	rs200205658	5.421e-05	5.472e-05	4.64e-05	6.211e-05	0.0005	4.424e-05	4.095e-05	0.0003	0.0003	0	0	0	0.0005	0	0.0002	2.973e-05	3.325e-05	0.0003	7.227e-05	7.219e-05	6.429e-05	8.061e-05	0.0019	3.971e-05	3.127e-05	0.0011	0.0008	0	0	0	0	0.0019	0	0	0	0	0.0002	0.019	0.91255	D	0.118	0.36233	T	0.006	0.13644	B	0.025	0.20508	B	0.353526	0.13779	N	0.690747	1	0.08975	N	1.1	0.28011	L	2.87	0.26152	T	-1.78	0.42001	N	0.244	0.27554	-1.0234	0.22606	T	0.051	0.21533	T	10	0.012607127	0.00270	T	0.007918	0.21007	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.14198885355945298	0.14121	0.264670799846	0.29017	0.483884215355	0.36591	T	0.015079	0.12720	T	-0.396154	0.02453	T	-0.428554	0.30099	T	0.175106486558776	0.18920	T	0.452755	0.12846	T	0.17695288	0.38635	0.20427741	0.44543	0.17695288	0.38635	0.20427741	0.44542	-10.984	0.79571	D	.	.	0.272	0.50572	B	.;.	.;.	2.867346	0.37901	20.6	0.81635285097873656	0.13783	0.01176	0.04222	N	ALL	0.061205	0.11685	N	-0.834056113931883	0.12446	0.6067028	-0.890939386252091	0.12307	0.6323612	0.999999999999923	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.1	1.71	0.23429	1.856000	0.39028	4.083000	0.41752	0.686000	0.82685	0.313000	0.25441	0.086000	0.22461	0.069000	0.16583	0.6963:0.0:0.3037:0.0	6.309	0.20360	440	0.80101	IQ motif, EF-hand binding site;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1465.83	89	chr1	32205706	.	A	G	1465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.68;DP=286;ExcessHet=0;FS=4.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-0.489;SOR=1.265	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1476,0,1131	5	0	1	0
chr1	32771251	32771251	C	G	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.C1895G:p.A632G,KIAA1522:NM_001369553:exon6:c.C1928G:p.A643G,KIAA1522:NM_020888:exon6:c.C2072G:p.A691G	.	408	1042	70	2	0	74	0.034291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0069	0.00379393	0.0082	0.0022	0.0043	0.0001	0.0015	0.0103	0.0124	0.0125	0.0078783	1218	154602	rs115626337	0.0097	0.0097	0.0096	0.0099	0.0469	0.0096	0.0095	0.0423	0.0405	0.0026	0.0044	0.0243	7.561e-05	0.0014	0.0469	0.0100	0.0113	0.0130	0.0067	0.0068	0.0067	0.0068	0.0105	0.0064	0.0063	0.0099	0.0096	0.0020	0	0.0039	0.0199	0	0.0023	0.0374	0.0105	0.0076	0.0100	0.034	0.44029	D	0.54	0.09760	T	0.218	0.30213	B	0.075	0.28327	B	0.210624	0.16374	N	0.449731	0.999394	0.46900	D	1.59	0.40313	L	2.66	0.12575	T	0.04	0.09796	N	0.212	0.23632	-1.0223	0.22965	T	0.019	0.07986	T	10	0.0028108358	0.00044	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	0.2235688335380214	0.22271	0.118390049219	0.13333	0.390469789505	0.23736	T	0.002647	0.02035	T	-0.574737	0.00207	T	-0.587315	0.13899	T	0.012088385384825	0.00192	T	0.781022	0.41604	T	0.07077329	0.15617	0.07130961	0.15254	0.07077329	0.15617	0.07130961	0.15254	-4.781	0.34369	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.643608	0.20977	14.99	0.89004375021630677	0.18432	0.23939	0.22236	N	AEFDBCI	0.146826	0.27037	N	-0.677451775913046	0.16665	0.8510871	-0.712694711770594	0.16646	0.8815072	0.999999555097307	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.77	3.77	0.42499	3.239000	0.51058	1.282000	0.25358	0.599000	0.40250	0.281000	0.25150	0.025000	0.21018	0.013000	0.09966	0.2212:0.7788:0.0:0.0	8.999	0.35233	308	0.87611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041289	0.010101	0.044837	0.073099	0.000000	0.068966	0.018293	0.026515	0.08333	901.83	95	chr1	32771251	.	C	G	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.92;DP=281;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.62;SOR=0.794	GT:AD:DP:GQ:PL	0/1:56,39:95:99:912,0,1335	5	0	1	0
chr1	35114576	35114576	A	G	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.A2521G:p.T841A,ZMYM1:NM_001289089:exon10:c.A2689G:p.T897A,ZMYM1:NM_024772:exon10:c.A2746G:p.T916A,ZMYM1:NM_001289088:exon11:c.A2746G:p.T916A,ZMYM1:NM_001289090:exon11:c.A2746G:p.T916A,ZMYM1:NM_001289091:exon11:c.A1666G:p.T556A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00778422694697	.	.	3.698e-05	0	0	0	0	0	0.0012	0.0002	2.59e-05	4	154602	rs756797801	1.166e-05	1.163e-05	4.092e-06	1.931e-05	0.0002	7.1e-06	5.81e-06	0.0001	9.532e-05	0	0	0	0	0	0	9.003e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.762747	0.09610	N	0.872462	0.999958	0.19072	N	-1.1	0.00987	N	1.94	0.22678	T	1.11	0.01213	N	0.062	0.04072	-0.9356	0.43303	T	0.012	0.04605	T	9	0.02047667	0.00472	T	0.007784	0.20642	T	0.025	0.05312	0.405	0.43738	0.0482279557977	0.04254	0.06221579855488417	0.06161	0.154411478399	0.17441	0.336470484734	0.15909	T	0.001198	0.00692	T	-0.50708	0.00521	T	-0.686726	0.06581	T	0.0179252399286084	0.00518	T	0.40156	0.10241	T	0.030173697	0.02636	0.02942222	0.01278	0.030173697	0.02636	0.02942222	0.01278	-2.501	0.05788	T	.	.	0.052	0.00211	B	.;.;.;.	.;.;.;.	-0.007046	0.04236	1.042	0.14379426315034066	0.00315	0.03081	0.07998	N	AEFBI	0.028467	0.02513	N	-1.31159976518501	0.03542	0.1583785	-1.15968716152269	0.06595	0.3180061	0.103135704250335	0.16438	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.755437	0.99637	0	.	.	4.21	-1.39	0.08526	-0.035000	0.12156	-0.014000	0.13018	-0.187000	0.09635	0.131000	0.23362	0.143000	0.23109	0.980000	0.58198	0.6049:0.0:0.3951:0.0	7.758	0.28099	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	538.83	54	chr1	35114576	.	A	G	538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.804;DP=232;ExcessHet=0;FS=1.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-2.184;SOR=0.929	GT:AD:DP:GQ:PL	0/1:32,22:54:99:549,0,847	5	0	1	0
chr1	36039955	36039955	G	A	exonic	AGO3	.	nonsynonymous SNV	AGO3:NM_177422:exon13:c.G1306A:p.D436N,AGO3:NM_024852:exon15:c.G2008A:p.D670N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0622488240874	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480514125	1.369e-06	1.368e-06	0	2.751e-06	2.321e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.011	0.65728	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	1.19	0.37578	T	-3.72	0.72932	D	0.965	0.97535	-0.1399	0.79167	T	0.366	0.72635	T	10	0.98358697	0.98504	D	0.062249	0.68594	D	0.563	0.82118	0.962	0.99613	0.739009138995	0.73667	0.9503526665528812	0.95018	2.57827802418	0.98043	0.892363727093	0.95552	D	0.505812	0.82428	D	-0.0689205	0.41498	T	-0.236146	0.51175	T	0.979015231132507	0.72615	D	0.961704	0.85587	D	0.83461934	0.86226	0.61397547	0.77534	0.83461934	0.86227	0.61397547	0.77535	-9.868	0.75318	D	.	.	0.984	0.93151	P	.;.	.;.	5.014964	0.83309	28.0	0.99924109425656993	0.98980	0.99178	0.92379	D	AEFBI	0.860190	0.77801	D	1.04034296717345	0.96856	15.239	0.954066625738452	0.97525	16.27777	0.999999999925005	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	6.16	6.16	0.99302	10.003000	0.99689	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.860	0.99763	182	0.92924	Piwi domain|Piwi domain|Piwi domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	488.83	50	chr1	36039955	.	G	A	488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.496;DP=219;ExcessHet=0;FS=4.127;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.6;SOR=1.26	GT:AD:DP:GQ:PL	0/1:31,19:50:99:499,0,902	5	0	1	0
chr1	41018023	41018023	C	T	exonic	SLFNL1	.	nonsynonymous SNV	SLFNL1:NM_001377532:exon2:c.G569A:p.G190D,SLFNL1:NM_144990:exon3:c.G569A:p.G190D,SLFNL1:NM_001168247:exon4:c.G569A:p.G190D	.	313	1208	1	0	0	1	0.000413736	.	.	.	3333063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00259973223465	0.0002	.	6.945e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs367665847	3.522e-05	3.694e-05	3.98e-05	3.058e-05	9.039e-06	2.722e-05	2.461e-05	4.57e-06	3.33e-06	0	0	0.0015	0	0	0	9.039e-06	5.013e-05	0	3.943e-05	3.941e-05	3.854e-05	4.036e-05	.	1.716e-05	1.13e-05	.	.	0	0	0	0.0017	0	0	0	0	0	0	0.148	0.24857	T	0.577	0.08900	T	0.047	0.24389	B	0.036	0.22909	B	0.005232	0.01068	N	2.797590	1	0.19238	N	0.345	0.11182	N	2.03	0.20959	T	-0.32	0.12283	N	0.162	0.18376	-1.0521	0.13818	T	0.027	0.11574	T	10	0.01474908	0.00310	T	0.003	0.05263	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.18522486157562723	0.18440	0.0602390812527	0.06699	0.261511296034	0.05072	T	0.001213	0.00709	T	-0.351272	0.04647	T	-0.652624	0.08770	T	0.484502702951431	0.32062	T	0.381062	0.09207	T	0.04912929	0.08673	0.09139055	0.21485	0.04912929	0.08673	0.09139055	0.21484	-3.069	0.11045	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	-0.481892	0.01925	0.162	0.61318758018855313	0.06679	0.01401	0.04748	N	AEFDBCI	0.018233	0.00538	N	-1.61194808695223	0.01206	0.05243335	-1.75085376519567	0.00930	0.04161703	0.999999996614142	0.74766	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	5.24	-9.75	0.00422	-2.756000	0.00859	-0.548000	0.08544	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1016:0.1744:0.3013:0.4228	2.702	0.04831	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	911.83	61	chr1	41018023	.	C	T	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.498;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.53;SOR=0.747	GT:AD:DP:GQ:PL	0/1:25,36:61:99:922,0,736	5	0	1	0
chr1	46551184	46551184	C	T	exonic	KNCN	.	nonsynonymous SNV	KNCN:NM_001097611:exon1:c.G32A:p.R11H,KNCN:NM_001322255:exon1:c.G32A:p.R11H	.	427	1091	4	0	0	4	0.00182983	.	.	.	4152452	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.027303387292	.	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs566594574	6.654e-05	6.704e-05	6.552e-05	6.757e-05	0.0007	5.577e-05	5.167e-05	0.0002	0.0001	0	0	7.682e-05	2.548e-05	0	0.0007	6.215e-05	8.3e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0002	4.956e-05	3.962e-05	6.283e-05	4.3e-05	0.0001	0	6.541e-05	0	0	0	0	7.348e-05	0	0.0002	0.479	0.18122	T	0.063	0.45110	T	0.007	0.14184	B	0.005	0.11217	B	.	.	.	.	0.973483	0.25544	N	.	.	.	-0.43	0.69657	T	-0.31	0.41239	N	0.118	0.32921	-0.9638	0.38448	T	0.178	0.52318	T	8	0.051455677	0.05028	T	0.027303	0.50125	D	0.060	0.17295	.	.	0.0806252709748	0.07271	0.26505340007804873	0.26418	0.493367281351	0.47936	0.226985111833	0.01753	T	0.013329	0.11547	T	-0.372845	0.03452	T	-0.513663	0.20939	T	0.0701168928721182	0.08667	T	0.70353	0.31362	T	0.026938478	0.01817	0.05684567	0.10229	0.026938478	0.01816	0.05684567	0.10229	-4.519	0.33968	T	.	.	0.071	0.08997	B	.;.	.;.	0.820762	0.11921	8.482	0.96578730352472708	0.30326	0.36461	0.25538	N	AEFDBI	0.076777	0.15453	N	-0.795070048513756	0.13438	0.6619885	-0.713916629579675	0.16614	0.8797467	0.999952726534339	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	5.39	1.44	0.21647	-0.134000	0.10415	-1.313000	0.05742	-0.172000	0.11096	0.980000	0.35271	0.000000	0.08366	0.513000	0.29313	0.0:0.6925:0.0:0.3075	9.950	0.40806	102	0.95784	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	532.83	46	chr1	46551184	.	C	T	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.175;DP=215;ExcessHet=0;FS=4.517;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.33;SOR=0.219	GT:AD:DP:GQ:PL	0/1:23,23:46:99:543,0,546	5	0	1	0
chr1	53594409	53594409	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.C494T:p.P165L,GLIS1:NM_001367484:exon4:c.C1019T:p.P340L	.	158	1351	11	2	0	15	0.00552079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.026124916413	0.0014	0.000798722	0.0015	0.0001	0.0004	0	0	0.0018	0.0050	0.0030	0.0013454	208	154602	rs36070063	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0040	0.0035	0.0003	0.0007	0.0023	2.521e-05	7.668e-05	0.0056	0.0014	0.0024	0.0026	0.0011	0.0011	0.0010	0.0013	0.0023	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0010	0.0026	0	0	0.0034	0.0017	0.0024	0.0023	0.118	0.28148	T	0.002	0.79402	D	0.996	0.68779	D	0.715	0.54683	P	0.000046	0.53742	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.6	0.13204	T	-5.34	0.84674	D	0.522	0.58031	-1.0974	0.04420	T	0.065	0.27017	T	10	0.020538062	0.00475	T	0.026125	0.49060	D	0.214	0.50650	.	.	0.606491963429	0.60334	0.5782930130756248	0.57758	0.357370273106	0.37457	0.651980757713	0.60267	T	0.456827	0.79544	T	-0.441919	0.01260	T	-0.4128	0.31902	T	0.070060948184942	0.08660	T	0.846115	0.52582	T	0.22651224	0.45334	0.27856404	0.53818	0.22651224	0.45334	0.27856404	0.53817	-5.836	0.44887	T	.	.	0.173	0.50352	B	.;.	.;.	4.463385	0.69484	25.4	0.99622888353280714	0.75533	0.98371	0.82097	D	AEFBHCI	0.842287	0.75941	D	0.557033247768843	0.70512	5.512282	0.562033460210662	0.72240	5.77848	0.999999999999994	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	5.845000	0.69157	6.705000	0.56383	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	17.001	0.86255	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.001362	0.005848	0.000000	0.000000	0.009146	0.000000	0.08333	1369.83	97	chr1	53594409	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.399;DP=339;ExcessHet=0;FS=5.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.196;SOR=0.343	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1380,0,1061	5	0	1	0
chr1	63774497	63774497	C	T	exonic	ROR1	.	nonsynonymous SNV	ROR1:NM_001083592:exon1:c.C80T:p.A27V,ROR1:NM_005012:exon1:c.C80T:p.A27V	.	453	1067	2	0	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.261852067378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.036e-06	2.668e-05	5.772e-06	4.227e-06	0.0002	1.48e-06	1.07e-06	6.443e-05	3.889e-05	0	0	0	0	0	0	0	2.722e-05	0.0002	6.707e-06	6.596e-06	0	1.377e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.412	0.10083	T	0.11	0.37310	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	0.994847	0.23430	N	0	0.06538	N	-0.04	0.75001	T	0.04	0.06739	N	0.114	0.12484	-1.0546	0.13145	T	0.076	0.30397	T	9	0.08227098	0.13560	T	0.261852	0.89539	D	0.046	0.12618	0.306	0.27646	0.316310170894	0.31242	0.30280014981783815	0.30193	0.426954359613	0.43058	0.795159220695	0.81227	T	0.082402	0.36820	T	-0.113817	0.34139	T	-0.401266	0.33236	T	0.250988185405731	0.22917	T	0.505949	0.16663	T	0.06827837	0.14862	0.064239234	0.12844	0.06827837	0.14862	0.064239234	0.12843	-5.349	0.41207	T	.	.	0.164	0.36214	B	.;.	.;.	2.224631	0.28394	17.78	0.99450465349787021	0.65274	0.40875	0.26533	N	AEFDBCIJ	0.062689	0.12068	N	-0.562565340390196	0.20091	1.056599	-0.380026082713549	0.25592	1.408392	0.999999774907397	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.2	3.27	0.36580	0.260000	0.18192	1.172000	0.24632	0.442000	0.21104	0.995000	0.38783	0.760000	0.26617	0.895000	0.43227	0.0:0.8868:0.0:0.1132	8.562	0.32677	891	0.26808	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	162.73	13	chr1	63774497	.	C	T	162.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.073;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.633;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,6:13:99:172,0,186	5	0	1	0
chr1	74707102	74707102	C	T	splicing	CRYZ	NM_001889:exon7:c.732+1G>A;NM_001134759:exon5:c.321+1G>A;NM_001130042:exon8:c.732+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	743764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0020	0.00219649	0.0005	0.0056	8.676e-05	0	0	0	0.0011	0	0.0004592	71	154602	rs6668086	0.0002	0.0002	0.0002	0.0001	0.0059	0.0001	0.0001	0.0052	0.0050	0.0059	0.0001	0	0	0	0.0002	1.862e-06	0.0004	1.255e-05	0.0015	0.0015	0.0016	0.0013	0.0052	0.0013	0.0013	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	1.474e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0441921	0.57593	T	0.292069	0.87799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.358362	0.66997	25.0	0.99162374070707848	0.54127	0.98389	0.82278	D	AEFBI	.	.	.	1.06834323673245	0.97503	16.23891	0.890585297241738	0.95150	13.355	0.999999999570941	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.183335	0.04453	0	0.24341	0.04801	0	0.983124	0.89729	5.54	5.54	0.82907	4.187000	0.58142	5.907000	0.50968	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	19.438	0.94793	673	0.60677	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	868.83	56	chr1	74707102	.	C	T	868.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.997;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.025;SOR=0.772	GT:AD:DP:GQ:PL	0/1:26,30:56:99:879,0,638	5	0	1	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	.	.	.	.	.	.	.	.	0.1667	61.07	61	chr1	85158755	.	A	G	61.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.192;DP=351;ExcessHet=0.4139;FS=48.934;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-1.361;SOR=5.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,8:61:6:0|1:85158755_A_G:6,0,1816:85158755	4	0	2	0
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	.	.	.	.	.	.	.	.	0.4	338.61	61	chr1	85158757	.	C	G	338.61	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.43;DP=368;ExcessHet=3.1439;FS=172.787;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.604;SOR=8.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,8:61:6:0|1:85158755_A_G:6,0,1816:85158755	1	0	4	1
chr1	92703534	92703534	T	C	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon4:c.A557G:p.D186G,EVI5:NM_001350197:exon4:c.A425G:p.D142G,EVI5:NM_001350198:exon4:c.A425G:p.D142G,EVI5:NM_001377210:exon4:c.A548G:p.D183G,EVI5:NM_001377211:exon4:c.A425G:p.D142G,EVI5:NM_001377212:exon4:c.A425G:p.D142G,EVI5:NM_005665:exon4:c.A557G:p.D186G,EVI5:NM_001377213:exon5:c.A506G:p.D169G	.	423	1098	1	0	0	1	0.000455166	.	.	.	3256187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.0153495906479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773081130	2.758e-06	3.42e-06	2.743e-06	2.773e-06	4.808e-05	6.5e-07	4.4e-07	1.622e-05	9.56e-06	0	0	0	0	0	0	0	0	4.808e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.21	0.26883	T	0.727	0.42493	P	0.403	0.44588	B	0.000000	0.84330	D	0.042605	1	0.81001	D	0.625	0.15840	N	2.76	0.11515	T	-2.67	0.57110	D	0.583	0.60410	-0.9651	0.38191	T	0.013	0.04985	T	10	0.3525477	0.52080	T	0.01535	0.36031	T	0.300	0.62068	0.482	0.56302	0.282179105231	0.27821	0.5620255517137736	0.56129	0.577703311461	0.53685	0.790250837803	0.80482	T	0.083115	0.36981	T	-0.0509656	0.44301	T	-0.203328	0.54331	T	0.828941345214844	0.48447	D	0.941006	0.77964	D	0.68136525	0.77043	0.5557778	0.74306	0.68136525	0.77044	0.5557778	0.74307	-6.068	0.46844	T	.	.	0.239	0.47327	B	.;.	.;.	4.502134	0.70423	25.5	0.99682391215547428	0.79373	0.99370	0.95141	D	AEFBI	0.922006	0.89632	D	0.321098279649241	0.57233	3.889858	0.45957969227056	0.65333	4.810719	0.999999895177884	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	8.017000	0.88732	7.952000	0.75854	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.923	0.79375	288	0.88579	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	.	.	.	.	.	.	.	.	0.08333	887.83	66	chr1	92703534	.	T	C	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.74;DP=248;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.572;SOR=0.914	GT:AD:DP:GQ:PL	0/1:31,35:66:99:898,0,749	5	0	1	0
chr1	93193678	93193678	A	-	exonic	CCDC18	.	frameshift deletion	CCDC18:NM_001306076:exon6:c.632delA:p.Q211Rfs*8,CCDC18:NM_001378204:exon6:c.632delA:p.Q211Rfs*8,CCDC18:NM_206886:exon6:c.632delA:p.Q211Rfs*8	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.309e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs756274248	3.476e-06	3.42e-06	2.767e-06	4.192e-06	4.538e-06	1.02e-06	7.4e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.538e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	423.79	17	chr1	93193677	.	CA	C	423.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.238;DP=126;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.93;ReadPosRankSum=1.48;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,12:17:99:434,0,148	5	0	1	0
chr1	109751734	109751734	G	A	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon15:c.C1294T:p.R432W,EPS8L3:NM_024526:exon16:c.C1393T:p.R465W,EPS8L3:NM_133181:exon16:c.C1483T:p.R495W,EPS8L3:NM_139053:exon16:c.C1486T:p.R496W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0184605341436	0.0013	0.000399361	0.0008	0.0004	0.0003	0	0.0003	0.0012	0	6.056e-05	0.0008085	125	154602	rs75744349	0.0011	0.0011	0.0012	0.0011	0.0013	0.0011	0.0010	0.0013	0.0012	5.974e-05	0.0005	0.0016	0	0.0005	0	0.0013	0.0008	0.0001	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0017	0	0.0004	0	0.0012	0.0009	0	0.004	0.65419	D	0.007	0.69154	D	0.972	0.57405	D	0.471	0.47969	P	0.043091	0.23774	N	0.488986	1	0.08975	N	1.92	0.51302	L	0.67	0.52187	T	-3.34	0.66325	D	0.356	0.39760	-1.0254	0.21952	T	0.071	0.28969	T	10	0.027573317	0.00901	T	0.018461	0.40531	T	0.077	0.22490	.	.	0.678419706176	0.67568	0.4692958812240566	0.46848	0.236396520349	0.26177	0.244182661176	0.03179	T	0.031573	0.22103	T	-0.445915	0.01194	T	-0.44868	0.27842	T	0.0618794027933199	0.07462	T	0.39716	0.10529	T	0.09465741	0.22260	0.12037552	0.29051	0.09465741	0.22260	0.12037552	0.29051	-8.037	0.62263	D	0.5083734905981794	0.58248	0.121	0.27998	B	.;.;.	.;.;.	2.970078	0.39582	21.0	0.9933306029627299	0.59856	0.05075	0.10870	N	AEFDBI	0.242021	0.36355	N	-0.308918744638769	0.28807	1.592107	-0.489562507948634	0.22440	1.218855	0.00344021829866547	0.10114	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.72	1.69	0.23290	0.384000	0.20396	3.150000	0.36521	0.676000	0.76740	0.000000	0.06391	0.368000	0.24554	0.034000	0.13613	0.082:0.2933:0.4732:0.1515	4.271	0.10231	573	0.70213	.;.;SH3 domain|SH3 domain|SH3 domain|Eps8, 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	1	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	562.83	54	chr1	109751734	.	G	A	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.581;SOR=0.798	GT:AD:DP:GQ:PL	0/1:32,22:54:99:573,0,764	5	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P,DENND2C:NM_001256404:exon4:c.T667C:p.S223P	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.016304	0.023392	0.000000	0.017241	0.036585	0.041667	0.08333	1606.83	125	chr1	114625318	.	A	G	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.707;DP=297;ExcessHet=0;FS=1.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.905;SOR=0.877	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1617,0,1751	5	0	1	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	.	.	.	.	.	.	.	.	0.4	589.38	89	chr1	114732648	.	C	G	589.38	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.279;DP=588;ExcessHet=3.1439;FS=460.937;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=2.38;SOR=10.1	GT:AD:DP:GQ:PL	0/1:59,17:89:24:24,0,815	1	0	4	1
chr1	117121065	117121065	T	C	exonic	TRIM45	.	nonsynonymous SNV	TRIM45:NM_001145635:exon1:c.A137G:p.H46R,TRIM45:NM_025188:exon1:c.A137G:p.H46R	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.424360202322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000013	0.62929	D	0.125203	1	0.81001	D	4.1	0.97316	H	-6.16	0.99551	D	-6.79	0.92863	D	0.94	0.94786	0.978	0.96828	D	0.991	0.99759	D	10	0.9899241	0.99476	D	0.42436	0.93857	D	0.979	0.99840	0.951	0.99428	0.99845681958	0.99844	0.9564514170435776	0.95630	0.965204057572	0.73154	0.760313630104	0.75976	T	0.190506	0.54506	T	0.56094	0.96255	D	0.567975	0.96196	D	0.999414682388306	0.97310	D	0.80432	0.45710	T	0.8759355	0.89336	0.7794273	0.86994	0.8759355	0.89338	0.7794273	0.86995	-12.484	0.87128	D	.	.	0.630	0.76782	P	.;.	.;.	4.475698	0.69783	25.4	0.99630342498943236	0.76020	0.89945	0.50749	D	AEFGBHCI	.	.	.	0.920229518536942	0.92715	11.58568	0.817677496353392	0.90995	10.66734	0.999999999999977	0.74766	0.627647	0.40530	0	0.516746	0.08562	0	0.672317	0.60874	0	0.404113	0.06833	1	.	.	5.12	5.12	0.69459	6.466000	0.73458	7.655000	0.63911	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:0.0:0.0:1.0	12.914	0.57588	778	0.48011	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2894.83	204	chr1	117121065	.	T	C	2894.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.303;DP=376;ExcessHet=0;FS=1.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.31;SOR=0.8	GT:AD:DP:GQ:PL	0/1:93,111:204:99:2905,0,2362	5	0	1	0
chr1	119935502	119935502	A	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon22:c.T3625G:p.F1209V,NOTCH2:NM_024408:exon22:c.T3625G:p.F1209V	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	138706	not_specified|Hajdu-Cheney_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.848	0.465349951855	0.0021	0.00159744	0.0033	0.0005	0.0008	0	0.0074	0.0046	0.0066	0.0017	0.0031177	482	154602	rs147223770	0.0032	0.0032	0.0031	0.0032	0.0106	0.0031	0.0031	0.0085	0.0077	0.0009	0.0017	0.0061	0	0.0080	0.0106	0.0031	0.0040	0.0021	0.0025	0.0025	0.0024	0.0026	0.0032	0.0023	0.0022	0.0029	0.0028	0.0005	0	0.0023	0.0029	0	0.0076	0.0136	0.0032	0.0033	0.0012	0.063	0.36709	T	0.041	0.50514	D	0.939	0.52645	P	0.739	0.55653	P	0.001271	0.39594	U	0.000000	1	0.81001	D	2.75	0.80375	M	-3.2	0.93231	D	-4.66	0.79482	D	0.668	0.67650	1.014	0.97432	D	0.896	0.96565	D	10	0.026755065	0.00835	T	0.46535	0.94586	D	0.848	0.95286	.	.	0.903793778874	0.90283	0.7582451934338716	0.75772	1.68776258327	0.90085	0.698752880096	0.66963	T	0.874391	0.97314	D	0.0947209	0.63717	D	0.363413	0.90829	D	0.023155564971664	0.01041	T	0.907309	0.67223	D	0.28803015	0.51809	0.37022707	0.62277	0.28803015	0.51808	0.37022707	0.62277	-12.141	0.85531	D	0.19538273485906804	0.25772	0.730	0.74211	P	.	.	4.873550	0.79859	27.2	0.99179541787431436	0.54643	0.99301	0.94181	D	AEFDBIJ	0.896379	0.83739	D	0.909377931762591	0.92211	11.29499	0.877417881226856	0.94512	12.81871	0.999999998901721	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.947000	0.92735	11.173000	0.88038	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.579	0.76157	827	0.39843	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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.08333	1206.83	102	chr1	119935502	.	A	C	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.462;DP=281;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.369;SOR=0.556	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1217,0,1321	5	0	1	0
chr1	120465299	120465299	G	A	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon22:c.G2513A:p.G838E	.	534	986	2	0	0	2	0.00101317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-05	3.113e-05	1.872e-05	9.457e-06	2.36e-05	5.89e-06	4.25e-06	1.114e-05	8.33e-06	0	0	0	0	0	0	2.36e-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	.	.	.	.	.	.	.	.	0.08333	52.83	12	chr1	120465299	.	G	A	52.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.807;DP=114;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.083;MQ=28.04;MQRankSum=-2.509;QD=4.4;ReadPosRankSum=0.17;SOR=0.061	GT:AD:DP:GQ:PL	0/1:8,4:12:63:63,0,195	5	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	221.06	92	chr1	144435839	.	C	G	221.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.633;DP=479;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=31.42;MQRankSum=-1.912;QD=1.37;ReadPosRankSum=2.91;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,9:92:99:0|1:144435839_C_G:128,0,3415:144435839	4	0	2	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y,NBPF15:NM_001385448:exon5:c.G400T:p.D134Y,NBPF15:NM_001385405:exon6:c.G400T:p.D134Y,NBPF15:NM_001385447:exon6:c.G400T:p.D134Y,NBPF15:NM_001385410:exon7:c.G400T:p.D134Y,NBPF15:NM_001385413:exon7:c.G400T:p.D134Y,NBPF15:NM_001385416:exon7:c.G400T:p.D134Y,NBPF15:NM_001385432:exon7:c.G400T:p.D134Y,NBPF15:NM_001385438:exon7:c.G400T:p.D134Y,NBPF15:NM_001385446:exon7:c.G400T:p.D134Y,NBPF15:NM_001385407:exon8:c.G400T:p.D134Y,NBPF15:NM_001385418:exon8:c.G400T:p.D134Y,NBPF15:NM_001385424:exon8:c.G400T:p.D134Y,NBPF15:NM_001385427:exon8:c.G400T:p.D134Y,NBPF15:NM_001385439:exon8:c.G400T:p.D134Y,NBPF15:NM_001385440:exon8:c.G400T:p.D134Y,NBPF15:NM_001385443:exon8:c.G400T:p.D134Y,NBPF15:NM_001385445:exon8:c.G400T:p.D134Y,NBPF15:NM_001385376:exon9:c.G400T:p.D134Y,NBPF15:NM_001385377:exon9:c.G400T:p.D134Y,NBPF15:NM_001385403:exon9:c.G400T:p.D134Y,NBPF15:NM_001385404:exon9:c.G400T:p.D134Y,NBPF15:NM_001385409:exon9:c.G400T:p.D134Y,NBPF15:NM_001385411:exon9:c.G400T:p.D134Y,NBPF15:NM_001385414:exon9:c.G400T:p.D134Y,NBPF15:NM_001385441:exon9:c.G400T:p.D134Y,NBPF15:NM_173638:exon9:c.G400T:p.D134Y,NBPF15:NM_001385373:exon10:c.G400T:p.D134Y,NBPF15:NM_001385374:exon10:c.G400T:p.D134Y,NBPF15:NM_001385375:exon10:c.G400T:p.D134Y,NBPF15:NM_001385408:exon10:c.G400T:p.D134Y,NBPF15:NM_001385412:exon10:c.G400T:p.D134Y,NBPF15:NM_001385415:exon10:c.G400T:p.D134Y,NBPF15:NM_001385420:exon10:c.G400T:p.D134Y,NBPF15:NM_001385423:exon10:c.G400T:p.D134Y,NBPF15:NM_001385430:exon10:c.G400T:p.D134Y,NBPF15:NM_001385431:exon10:c.G400T:p.D134Y,NBPF15:NM_001385433:exon10:c.G400T:p.D134Y,NBPF15:NM_001385434:exon10:c.G400T:p.D134Y,NBPF15:NM_001385436:exon10:c.G400T:p.D134Y,NBPF15:NM_001385442:exon10:c.G400T:p.D134Y,NBPF15:NM_001385444:exon10:c.G400T:p.D134Y,NBPF15:NM_001385378:exon11:c.G400T:p.D134Y,NBPF15:NM_001385406:exon11:c.G400T:p.D134Y,NBPF15:NM_001385419:exon11:c.G400T:p.D134Y,NBPF15:NM_001385421:exon11:c.G400T:p.D134Y,NBPF15:NM_001385422:exon11:c.G400T:p.D134Y,NBPF15:NM_001385425:exon11:c.G400T:p.D134Y,NBPF15:NM_001385428:exon11:c.G400T:p.D134Y,NBPF15:NM_001385429:exon11:c.G400T:p.D134Y,NBPF15:NM_001385435:exon11:c.G400T:p.D134Y,NBPF15:NM_001385437:exon11:c.G400T:p.D134Y,NBPF15:NM_001170755:exon12:c.G400T:p.D134Y,NBPF15:NM_001385426:exon12:c.G400T:p.D134Y	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	72.83	136	chr1	144436988	.	C	A	72.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=329;ExcessHet=0;FS=46.235;MLEAC=1;MLEAF=0.083;MQ=37.93;MQRankSum=-5.561;QD=0.54;ReadPosRankSum=-0.638;SOR=5.783	GT:AD:DP:GQ:PL	0/1:119,17:136:83:83,0,3033	5	0	1	0
chr1	145313948	145313948	T	C	exonic	NBPF20	.	nonsynonymous SNV	NBPF20:NM_001278267:exon111:c.A12227G:p.D4076G	.	1132	388	1	1	0	3	0.00385109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00191825624722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206851547	0.0114	0.0083	0.0098	0.0128	0.0375	0.0110	0.0109	0.0357	0.0349	0.0039	0.0065	0.0111	0	0.0084	0.0196	0.0078	0.0095	0.0375	0.0045	0.0073	0.0046	0.0045	0.0201	0.0039	0.0036	0.0119	0.0094	0.0015	0	0.0045	0.0038	0.0012	0.0073	0.0641	0.0044	0.0030	0.0201	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.15187	-1.1062	0.03417	T	0.057	0.24018	T	4	0.014809728	0.00311	T	0.029492	0.51987	D	.	.	.	.	0.0551355673512	0.04727	0.012434762134161108	0.01202	.	.	0.527425050735	0.42672	T	.	.	.	-0.168599	0.25446	T	-0.479957	0.24450	T	0.0608008378654654	0.07294	T	0.741226	0.36032	T	0.16416097	0.36605	0.5540301	0.74208	0.16416097	0.36605	0.5540301	0.74209	-11.524	0.82456	D	.	.	0.855	0.80035	P	.;.	.;.	2.104508	0.26779	17.24	0.98584901971224081	0.43297	0.00943	0.03638	N	AEFI	0.024438	0.01514	N	-0.187880539875173	0.33637	1.910686	-0.358857064188187	0.26237	1.44784	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.799000	0.26688	0.479000	0.18787	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	421	0.81399	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	46.5	2	chr1	145313948	.	T	C	46.5	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=23.51;QD=23.25;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0	2	1	0	3
chr1	145849550	145849550	T	G	exonic	PIAS3	.	nonsynonymous SNV	PIAS3:NM_006099:exon14:c.A1783C:p.S595R	.	428	1077	17	0	0	17	0.00783049	.	.	.	696052	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.122	0.00620964201643	.	.	.	.	.	.	.	.	.	.	.	.	.	rs112103191	0.0021	0.0022	0.0013	0.0030	0.0302	0.0021	0.0021	0.0292	0.0288	0.0011	0.0002	0	0.0026	0	0.0031	0.0002	0.0029	0.0302	0.0017	0.0017	0.0012	0.0021	0.0284	0.0015	0.0014	0.0245	0.0231	0.0016	0	0.0001	0	0.0037	0	0.0034	0.0004	0	0.0284	0.002	0.72154	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.22	0.37052	T	-1.16	0.29933	N	0.215	0.29081	.	.	.	.	.	.	.	0.008715093	0.00197	T	.	.	.	.	.	.	.	.	.	0.8568605351980342	0.85649	.	.	.	.	.	0.120515	0.44281	T	.	.	.	.	.	.	.	.	.	0.852015	0.53695	D	.	.	.	.	.	.	.	.	-5.021	0.37067	T	.	.	0.946	0.86484	P	.;.	.;.	4.524755	0.70976	25.6	.	.	.	.	.	.	0.762665	0.70000	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.443000	0.59736	6.029000	0.52897	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1179.83	103	chr1	145849550	.	T	G	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.704;DP=282;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.19;SOR=0.575	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1190,0,1729	5	0	1	0
chr1	146121618	146121618	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon20:c.C2638G:p.L880V,NBPF10:NM_001302371:exon20:c.C2638G:p.L880V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.595e-05	0.0002	3.653e-05	3.545e-05	0.0003	2.289e-05	1.789e-05	0.0002	0.0001	8.239e-05	4.779e-05	0	0	0	0	0	0	0.0003	1.593e-05	3.333e-05	1.534e-05	1.658e-05	0.0003	2.65e-06	9.9e-07	.	.	0	0	0	0	0	0	0	1.635e-05	0	0.0003	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.49	0.14531	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.12651056	0.24052	T	.	.	.	.	.	.	.	0.236278675362	0.23226	0.003398250632441643	0.00317	.	.	.	.	.	.	.	.	-0.203238	0.20338	T	-0.529714	0.19315	T	0.192699611186981	0.20002	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.48787	B	.	.	1.492274	0.19196	14.14	0.99360472442464853	0.60987	0.03659	0.08916	N	AEFI	0.039261	0.05677	N	-0.573426320466201	0.19755	1.036392	-0.754957550516159	0.15601	0.8213083	1.40482136050046E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	0.046323	0.05263	0.533	0.533	0.16315	0.999000	0.29358	-1.724000	0.04844	0.319000	0.19345	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	43.87	4	chr1	146121618	.	G	C	43.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=50;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.22;MQRankSum=-0.431;QD=10.97;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:54:54,0,63	5	0	1	0
chr1	148566169	148566169	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon24:c.A3182T:p.H1061L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0282704498932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.433e-06	7.884e-06	4.805e-06	4.114e-06	7.481e-06	7.4e-07	2.8e-07	1.24e-06	4.7e-07	0	0	0	0	0	0	7.481e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.16168	.	.	.	.	.	.	.	0.09701505	0.17442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253675	0.03893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.76773	P	.;.	.;.	0.525462	0.08943	5.723	.	.	.	.	.	.	0.028914	0.02634	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666000	0.24779	-0.541000	0.08582	0.161000	0.17719	0.988000	0.36536	0.000000	0.08366	0.005000	0.06747	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	52.89	7	chr1	148566169	.	T	A	52.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=50;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.52;MQRankSum=0.366;QD=7.56;ReadPosRankSum=1.98;SOR=0.223	GT:AD:DP:GQ:PL	0/1:5,2:7:63:63,0,147	5	0	1	0
chr1	149012635	149012635	G	T	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon28:c.G5611T:p.A1871S,PDE4DIP:NM_001198834:exon32:c.G5125T:p.A1709S,PDE4DIP:NM_014644:exon32:c.G5125T:p.A1709S,PDE4DIP:NM_001350521:exon35:c.G5536T:p.A1846S,PDE4DIP:NM_001350522:exon35:c.G5323T:p.A1775S,PDE4DIP:NM_001377392:exon35:c.G5536T:p.A1846S,PDE4DIP:NM_001377393:exon35:c.G4993T:p.A1665S	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00321588607918	.	.	8.239e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs140487163	0.0032	0.0032	0.0026	0.0038	0.0275	0.0031	0.0031	0.0266	0.0262	0.0144	0.0016	0.0023	0.0064	0.0033	0.0030	0.0008	0.0063	0.0275	0.0062	0.0062	0.0056	0.0067	0.0287	0.0058	0.0057	0.0248	0.0233	0.0146	0	0.0029	0.0020	0.0095	0.0033	0.0068	0.0006	0.0076	0.0287	0.676	0.04482	T	0.854	0.03806	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	0.01430	T	-0.11	0.08653	N	0.353	0.39457	.	.	.	.	.	.	.	0.0075792074	0.00172	T	.	.	.	.	.	.	.	.	.	0.3445266596623513	0.34365	.	.	.	.	.	0.013586	0.16455	T	.	.	.	.	.	.	.	.	.	0.770923	0.40135	T	.	.	.	.	.	.	.	.	-2.362	0.05276	T	.	.	0.089	0.16494	B	.;.;.;.	.;.;.;.	2.412152	0.31007	18.61	.	.	.	.	.	.	0.291401	0.40254	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713000	0.25464	1.842000	0.29195	0.594000	0.32500	0.976000	0.34826	1.000000	0.68203	0.318000	0.24924	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1037.83	66	chr1	149012635	.	G	T	1037.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.875;DP=246;ExcessHet=0;FS=3.458;MLEAC=1;MLEAF=0.083;MQ=55.34;MQRankSum=1.03;QD=15.72;ReadPosRankSum=-0.3;SOR=0.373	GT:AD:DP:GQ:PL	0/1:27,39:66:99:1048,0,699	5	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:218,48:266:99:832,0,6263	0	0	6	0
chr1	149584007	149584007	G	A	exonic	PPIAL4C	.	nonsynonymous SNV	PPIAL4C:NM_001135789:exon1:c.G110A:p.R37H	.	488	1001	29	4	0	37	0.0181462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209392785	0.0086	0.0090	0.0085	0.0087	0.0145	0.0084	0.0083	0.0106	0.0099	0.0018	0.0070	0.0169	9.422e-05	0.0039	0.0145	0.0103	0.0087	0.0070	0.0070	0.0071	0.0073	0.0067	0.0107	0.0066	0.0065	0.0100	0.0097	0.0014	0.0024	0.0074	0.0143	0.0002	0.0018	0.0231	0.0107	0.0120	0.0050	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.23486	T	.	.	.	0.218	0.24385	.	.	.	.	.	.	.	0.018166542	0.00393	T	.	.	.	.	.	.	.	0.219573609325	0.21563	0.32605712726361036	0.32518	.	.	0.53084218502	0.43153	T	0.092793	0.39078	T	0.0686114	0.60679	T	-0.139221	0.60185	T	.	.	.	0.234777	0.03226	T	0.046832833	0.07904	0.11937177	0.28813	0.046832833	0.07904	0.11937177	0.28812	-5.919	0.45596	T	.	.	0.111	0.21466	B	.	.	1.028578	0.14083	10.66	0.67423224367540469	0.08350	0.67005	0.33277	D	AEFI	.	.	.	.	.	.	.	.	.	0.00176460587516392	0.08861	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.619667	0.41142	0.386	0.386	0.15477	4.040000	0.57044	-2.912000	0.03237	0.408000	0.20627	1.000000	0.71638	0.000000	0.08366	0.839000	0.39591	2.0E-4:0.0:0.9998:0.0	6.584	0.21804	784	0.47045	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	734.83	49	chr1	149584007	.	G	A	734.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=195;ExcessHet=0;FS=2.904;MLEAC=1;MLEAF=0.083;MQ=28.3;MQRankSum=-1.974;QD=15;ReadPosRankSum=1.46;SOR=1.27	GT:AD:DP:GQ:PL	0/1:20,29:49:99:745,0,422	5	0	1	0
chr1	151288634	151288634	A	G	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon3:c.A2222G:p.N741S,ZNF687:NM_020832:exon3:c.A2222G:p.N741S,ZNF687:NM_001304763:exon4:c.A2222G:p.N741S	Paget disease of bone 6, Autosomal dominant	425	1095	2	0	0	2	0.000912409	.	.	.	3852573	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00600689636148	.	.	0.0002	0	0	0	0	3.001e-05	0	0.0015	0.0001682	26	154602	rs781593158	9.577e-05	9.577e-05	5.037e-05	0.0001	0.0015	8.242e-05	7.783e-05	0.0013	0.0012	0	0	0	0	0	0	3.597e-06	6.623e-05	0.0015	1.314e-05	1.312e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.649	0.04864	T	0.699	0.05747	T	0.11	0.26188	B	0.059	0.26602	B	0.001646	0.38382	N	0.000000	0.709645	0.33505	D	0.29	0.10111	N	5.32	0.01079	T	-0.35	0.12847	N	0.256	0.29313	-0.9933	0.31749	T	0.012	0.04605	T	10	0.02531293	0.00729	T	0.006007	0.15698	T	0.038	0.09825	0.311	0.28451	0.239312915715	0.23560	0.13182278672691514	0.13107	0.255294500027	0.28121	0.500603556633	0.38912	T	0.013542	0.11696	T	-0.638889	0.00085	T	-0.725874	0.04516	T	0.0518397229361626	0.05820	T	0.846115	0.52582	T	0.0360545	0.04362	0.0399554	0.04207	0.0360545	0.04362	0.0399554	0.04206	-4.223	0.27083	T	.	.	0.112	0.22098	B	.;.	.;.	2.127373	0.27080	17.34	0.99160820442368225	0.54099	0.56297	0.30081	D	AEFDGBCI	0.247716	0.36824	N	-0.380202072200446	0.26176	1.426563	-0.274715769795063	0.28934	1.617123	0.999195674239184	0.38711	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.25	2.91	0.32903	0.279000	0.18532	8.080000	0.76477	0.756000	0.94297	0.104000	0.22875	1.000000	0.68203	0.999000	0.91618	0.7866:0.0:0.0761:0.1372	6.624	0.22011	91	0.96221	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2408.83	150	chr1	151288634	.	A	G	2408.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=325;ExcessHet=0;FS=2.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.42;SOR=0.902	GT:AD:DP:GQ:PL	0/1:67,83:150:99:2419,0,1709	5	0	1	0
chr1	152218574	152218574	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3055A:p.G1019R	.	416	1072	34	0	0	34	0.0156107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	0.00339457	0.0024	0.0003	0.0009	0.0003	0.0008	0.0006	0.0055	0.0141	0.0021086	326	154602	rs150117899	0.0013	0.0013	0.0009	0.0017	0.0232	0.0012	0.0012	0.0200	0.0188	0.0004	0.0005	0.0003	7.56e-05	0.0003	0.0232	0.0004	0.0019	0.0132	0.0009	0.0009	0.0007	0.0010	0.0133	0.0007	0.0007	0.0107	0.0098	0.0002	0	0.0002	0	0.0002	0	0.0170	0.0006	0.0024	0.0133	0.113	0.28772	T	0.078	0.42261	T	0.546	0.38028	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	4.58	0.01901	T	-1.73	0.41046	N	0.053	0.02462	-0.9355	0.43318	T	0.001	0.00438	T	9	0.003388822	0.00059	T	.	.	.	0.011	0.01250	0.278	0.23164	0.350307294319	0.34646	0.0024863189592469093	0.00230	.	.	0.580455064774	0.50149	T	0.031719	0.22169	T	-0.706007	0.00034	T	-0.775875	0.02580	T	0.00664501759776044	0.00074	T	0.321768	0.06536	T	0.045579843	0.07485	0.07004887	0.14837	0.045579843	0.07484	0.07004887	0.14836	-5.706	0.43747	T	.	.	0.140	0.30608	B	.	.	-0.214648	0.03016	0.459	0.58679292666945504	0.06048	0.01260	0.04422	N	AEFBI	0.029677	0.02845	N	-1.11917760657677	0.06302	0.2897489	-1.20590993068046	0.05814	0.2781021	1.35723934429664E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	1.04	0.19220	-1.303000	0.02852	.	.	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7071:0.0:0.2929	5.238	0.14774	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	0.012698	0.005051	0.008152	0.032787	0.000000	0.017241	0.006098	0.015152	0.08333	5453.83	396	chr1	152218574	.	C	T	5453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=1039;ExcessHet=0;FS=1.175;MLEAC=1;MLEAF=0.083;MQ=59.8;MQRankSum=-1.292;QD=13.77;ReadPosRankSum=0.439;SOR=0.695	GT:AD:DP:GQ:PL	0/1:194,202:396:99:5464,0,5114	5	0	1	0
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	.	.	.	.	.	.	.	.	0.3	1658.67	378	chr1	152219783	.	T	C	1658.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=7.5;DP=2775;ExcessHet=1.383;FS=32.44;MLEAC=3;MLEAF=0.3;MQ=51.93;MQRankSum=-9.252;QD=1.26;ReadPosRankSum=-6.399;SOR=3.92	GT:AD:DP:GQ:PL	0/1:344,34:378:81:81,0,10391	2	0	3	1
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.08333	5224.83	468	chr1	152351526	.	T	C	5224.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.23;DP=655;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.77;MQRankSum=1.43;QD=11.16;ReadPosRankSum=-0.577;SOR=0.712	GT:AD:DP:GQ:PL	0/1:254,214:468:99:5235,0,6586	5	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	.	.	.	.	.	.	.	.	0.3333	553.96	86	chr1	153760378	.	C	G	553.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.351;DP=611;ExcessHet=3.1439;FS=310.595;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.594;SOR=10.364	GT:AD:DP:GQ:PL	0/1:49,28:86:84:84,0,538	2	0	4	0
chr1	156048508	156048508	C	T	exonic	UBQLN4	.	nonsynonymous SNV	UBQLN4:NM_001304342:exon5:c.G833A:p.R278Q,UBQLN4:NM_020131:exon5:c.G893A:p.R298Q	.	420	1062	38	2	0	42	0.0193906	.	.	.	706730	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.423	.	0.0049	0.00459265	0.0074	0.0015	0.0027	0.0001	0.0019	0.0078	0.0125	0.0186	0.0070698	1093	154602	rs143327773	0.0086	0.0086	0.0083	0.0090	0.0172	0.0085	0.0085	0.0164	0.0162	0.0013	0.0037	0.0029	0	0.0018	0.0070	0.0093	0.0065	0.0172	0.0058	0.0059	0.0061	0.0055	0.0166	0.0055	0.0054	0.0137	0.0126	0.0017	0.0011	0.0049	0.0017	0	0.0012	0	0.0092	0.0081	0.0166	1.0	0.00964	T	1.0	0.01155	T	0.346	0.33564	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	-0.145	0.04423	N	-1.33	0.79854	T	0.84	0.01761	N	0.399	0.43995	-0.7896	0.55753	T	0.100	0.37265	T	10	0.008500159	0.00193	T	.	.	.	0.423	0.73152	.	.	0.774197999884	0.77212	0.7733987295890202	0.77289	0.812123325804	0.66780	0.780212044716	0.78959	T	0.006428	0.05862	T	-0.309605	0.07783	T	-0.203222	0.54341	T	0.0114902627150112	0.00173	T	0.805919	0.45429	T	0.18372172	0.39654	0.1567515	0.36686	0.18372172	0.39653	0.1567515	0.36685	-2.219	0.04133	T	.	.	0.164	0.36194	B	.	.	3.536634	0.49643	22.8	0.4759771206193823	0.03904	0.90679	0.52057	D	AEFDBI	0.444249	0.50122	N	-0.308615606647941	0.28820	1.592859	-0.0923194634111654	0.35707	2.068983	0.999999016236468	0.74766	0.489673	0.17934	0	0.653731	0.59785	0	0.575934	0.27490	0	0.662433	0.64102	0	.	.	4.35	4.35	0.51454	4.153000	0.57895	5.974000	0.52050	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.645	0.76792	299	0.88026	.	.	.	.	.	rs143327773	Likely benign	0	0	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	0.009615	0.000000	0.004076	0.002941	0.000000	0.000000	0.021472	0.026718	0.08333	1746.83	109	chr1	156048508	.	C	T	1746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.06;MQRankSum=0.919;QD=16.03;ReadPosRankSum=0.387;SOR=0.648	GT:AD:DP:GQ:PL	0/1:49,60:109:99:1757,0,1311	5	0	1	0
chr1	160239944	160239944	C	T	exonic	DCAF8	.	nonsynonymous SNV	DCAF8:NM_015726:exon4:c.G476A:p.R159Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0262545464353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.58626	T	0.291	0.36630	T	0.994	0.90584	D	0.587	0.75793	P	0.000164	0.48594	U	0.077567	0.999118	0.46101	D	1.935	0.51832	L	-0.36	0.68754	T	-1.9	0.44284	N	0.709	0.72656	-0.5121	0.68210	T	0.348	0.71289	T	10	0.5574356	0.64597	D	0.026255	0.49180	D	0.295	0.61502	0.474	0.55020	0.401489600333	0.39766	0.5213429551367514	0.52057	1.73888321099	0.90852	0.748397767544	0.74211	T	0.058013	0.30725	T	0.11985	0.66357	D	-0.0656204	0.65936	T	0.87945497375948	0.52942	D	0.885811	0.63049	D	0.5694126	0.71028	0.26876426	0.52750	0.5694126	0.71029	0.26876426	0.52749	-10.157	0.74846	D	.	.	0.110	0.31151	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.232174	0.87830	29.4	0.99939021888105628	0.99734	0.98733	0.86156	D	AEFDBI	0.737506	0.68268	D	0.620472104687056	0.74471	6.138304	0.626579228622789	0.76876	6.572564	0.999925148937715	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.04	5.04	0.67293	5.148000	0.64701	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.181	0.86736	332	0.86382	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1542.83	108	chr1	160239944	.	C	T	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=287;ExcessHet=0;FS=9.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.341;SOR=1.533	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1553,0,1254	5	0	1	0
chr1	160841699	160841699	C	A	exonic	CD244	.	nonsynonymous SNV	CD244:NM_001166663:exon2:c.G264T:p.K88N,CD244:NM_001166664:exon2:c.G264T:p.K88N,CD244:NM_016382:exon2:c.G264T:p.K88N	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00498916612813	.	0.000199681	0.0003	0	0	0	0	0	0	0.0024	0.0002652	41	154602	rs560992418	0.0001	0.0001	5.445e-05	0.0002	0.0018	0.0001	9.415e-05	0.0015	0.0014	0	0	0	0	0	0.0002	8.993e-07	0.0002	0.0018	4.596e-05	4.593e-05	0	9.399e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	0	0	0.0012	0.086	0.32769	T	0.055	0.48594	T	0.646	0.41722	P	0.164	0.42432	B	0.006218	0.01115	N	3.362090	1	0.08975	N	1.1	0.28011	L	1.95	0.22474	T	-0.98	0.28906	N	0.08	0.09349	-1.0306	0.20260	T	0.016	0.06664	T	10	0.015888989	0.00334	T	0.004989	0.12598	T	0.033	0.08068	0.401	0.43081	0.165133752707	0.16062	0.2063975654133088	0.20556	0.0876462049252	0.09892	0.2993029356	0.10297	T	0.140925	0.47571	T	-0.699934	0.00036	T	-0.784968	0.02306	T	0.0399372374950194	0.03678	T	0.49745	0.15470	T	0.12970845	0.30288	0.07286166	0.15767	0.12970845	0.30287	0.07286166	0.15767	-3.449	0.17196	T	.	.	0.191	0.45446	B	.;.;.	.;.;.	0.651274	0.10196	6.937	0.95871767276754893	0.28049	0.02914	0.07718	N	AEFBI	0.068927	0.13620	N	-1.00241342384733	0.08554	0.4014931	-1.12113341232867	0.07297	0.3544067	0.119655864376663	0.16849	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.36	-1.17	0.09152	-0.168000	0.09914	-2.416000	0.03781	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4262:0.0:0.5738	7.675	0.27646	784	0.47045	.;Natural killer cell receptor 2B4, immunoglobulin 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	.	.	.	.	.	.	.	.	0.08333	1795.83	101	chr1	160841699	.	C	A	1795.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.105;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=1.44;SOR=0.636	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1806,0,1233	5	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	.	.	.	.	.	.	.	.	0.3	202.47	153	chr1	161048864	.	C	G	202.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.831;DP=954;ExcessHet=1.383;FS=196.336;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.727;SOR=9.624	GT:AD:DP:GQ:PL	0/1:118,27:153:28:28,0,2646	2	0	3	1
chr1	161998163	161998163	G	A	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon6:c.C1139T:p.S380L,OLFML2B:NM_001347700:exon6:c.C1142T:p.S381L,OLFML2B:NM_015441:exon6:c.C1136T:p.S379L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0236732459625	0.0003	.	0.0001	0	0.0002	0	0	0.0002	0	6.065e-05	0.0001164	18	154602	rs145215702	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	8.961e-05	8.944e-05	0	0	0	0.0005	0.0002	0.0003	6.957e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.813e-05	0	6.533e-05	0	0	0	0	0.0003	0.0005	0.0002	0.02	0.49613	D	0.185	0.28958	T	0.013	0.23796	B	0.002	0.12992	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	-2.17	0.86624	D	-1.28	0.32185	N	0.059	0.04188	-0.6598	0.62285	T	0.290	0.66192	T	8	0.06618631	0.09040	T	0.023673	0.46640	T	0.247	0.55478	.	.	0.693948434592	0.69131	0.28062100369744014	0.27975	0.116249446491	0.13114	0.313001334667	0.12361	T	0.008795	0.11486	T	-0.194162	0.21650	T	-0.198603	0.54779	T	0.0347115381833918	0.02759	T	0.552645	0.19087	T	0.054919355	0.10602	0.07719638	0.17173	0.054919355	0.10601	0.07719638	0.17173	-4.464	0.30414	T	.	.	0.078	0.11124	B	.;.	.;.	1.104259	0.14890	11.41	0.93622967023877057	0.23492	0.03006	0.07873	N	AEFBI	0.086113	0.17458	N	-0.719870585265354	0.15464	0.7795229	-0.713174218061703	0.16633	0.8808216	0.999816478333825	0.43459	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.39	4.39	0.52211	0.814000	0.26897	0.807000	0.21715	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.107:0.0:0.8929:0.0	8.158	0.30339	894	0.26265	.;.	.	.	.	.	.	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	0.08333	1578.83	120	chr1	161998163	.	G	A	1578.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=313;ExcessHet=0;FS=3.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.011;SOR=1.012	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1589,0,1531	5	0	1	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.006793	0.023392	0.000000	0.008621	0.015244	0.026515	0.08333	838.83	63	chr1	162374071	.	C	T	838.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.533;DP=251;ExcessHet=0;FS=3.442;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.316;SOR=1.074	GT:AD:DP:GQ:PL	0/1:31,32:63:99:849,0,807	5	0	1	0
chr1	167128147	167128147	C	T	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.C3016T:p.R1006W	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0123054808378	7.7e-05	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs199872759	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	8.885e-05	7.053e-05	5.974e-05	2.236e-05	0	0	0	0.0002	6.295e-06	4.967e-05	0.0002	4.599e-05	4.597e-05	2.569e-05	6.725e-05	7.238e-05	2.109e-05	1.527e-05	1.919e-05	1.032e-05	7.238e-05	0	6.542e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.893	0.63340	P	0.007987	0.31082	N	0.149192	0.999996	0.08975	N	2.52	0.73523	M	3.84	0.03675	T	-1.64	0.39314	N	0.185	0.22228	-1.0589	0.12032	T	0.015	0.06186	T	10	0.142192	0.27010	T	0.012305	0.30749	T	0.137	0.36984	.	.	0.253205268125	0.24938	0.503555557159116	0.50277	0.049419998863	0.05411	0.390412271023	0.23728	T	0.046012	0.27296	T	-0.32753	0.06300	T	-0.448572	0.27854	T	0.323247879743576	0.25953	T	0.925507	0.72634	D	0.1461438	0.33469	0.14856291	0.35113	0.1461438	0.33469	0.14856291	0.35112	-7.675	0.58834	D	.	.	0.163	0.35972	B	.;.;.	.;.;.	2.884489	0.38179	20.7	0.98251961063786974	0.39585	0.06058	0.12029	N	AEFDBI	0.342722	0.43878	N	-0.641080168169311	0.17721	0.9142344	-0.84100596038316	0.13503	0.7008637	0.288150875200331	0.19058	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	-0.00932	0.13325	0.988000	0.29216	-0.133000	0.11598	-0.893000	0.02373	0.397000	0.26145	0.000000	0.08366	0.863000	0.40966	0.6517:0.3483:0.0:0.0	17.401	0.87351	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	0	0	.	.	.	.	.	.	.	.	0.08333	2657.83	181	chr1	167128147	.	C	T	2657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.96;DP=383;ExcessHet=0;FS=7.406;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.499;SOR=0.625	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2668,0,2369	5	0	1	0
chr1	167704680	167704680	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_001322924:exon5:c.A1073G:p.Q358R,RCSD1:NM_001322923:exon6:c.A1145G:p.Q382R,RCSD1:NM_052862:exon7:c.A1235G:p.Q412R	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00515535724668	0.0004	0.000998403	0.0008	0	0.0004	0	0	0.0002	0.0011	0.0044	0.0006274	97	154602	rs140531524	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	0	0.0009	8.46e-05	0.0003	0.0041	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0007	0	0.0002	0	0	0.0001	0	0.0056	0.006	0.61437	D	0.195	0.40747	T	0.005	0.12996	B	0.005	0.11217	B	0.050763	0.02016	N	2.642930	0.99996	0.19072	N	1.845	0.48678	L	0.81	0.48460	T	-0.86	0.23372	N	0.082	0.05799	-1.0570	0.12517	T	0.035	0.15160	T	10	0.0065693855	0.00149	T	0.005155	0.13094	T	0.025	0.05312	.	.	0.402755899245	0.39889	0.05460491962494422	0.05402	0.0314988076541	0.03265	0.324742853642	0.14139	T	0.026095	0.19381	T	-0.604788	0.00136	T	-0.641383	0.09568	T	0.0539171689378395	0.06174	T	0.548145	0.18826	T	0.10292332	0.24323	0.10690756	0.25727	0.10292332	0.24322	0.10690756	0.25726	-4.878	0.35487	T	.	.	0.096	0.15385	B	.;.	.;.	1.514216	0.19452	14.27	0.98277241530760862	0.39814	0.24620	0.22450	N	AEFBCI	0.131812	0.25088	N	-0.648247703504625	0.17512	0.9017377	-0.558727748787416	0.20574	1.109091	0.996294754586114	0.34649	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.18	2.78	0.31702	0.306000	0.19030	1.924000	0.29729	0.756000	0.94297	0.316000	0.25468	0.538000	0.25400	0.304000	0.24594	0.7477:0.0:0.0896:0.1627	4.837	0.12831	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	680.83	71	chr1	167704680	.	A	G	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.849;DP=246;ExcessHet=0;FS=3.421;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.83;SOR=1.255	GT:AD:DP:GQ:PL	0/1:45,26:71:99:691,0,1190	5	0	1	0
chr1	169124994	169124994	A	C	exonic	ATP1B1	.	nonsynonymous SNV	ATP1B1:NM_001677:exon3:c.A337C:p.K113Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00539125532458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.104	0.38160	T	0.002	0.09854	B	0.001	0.04355	B	0.018857	0.27389	N	0.459148	0.607595	0.32593	D	0.09	0.08384	N	1.53	0.30401	T	0.03	0.06612	N	0.083	0.05929	-1.0523	0.13763	T	0.019	0.08033	T	9	0.14891803	0.28192	T	0.005391	0.13832	T	0.038	0.09825	0.459	0.52590	0.528219853349	0.52470	0.5927943117254878	0.59209	0.844893854615	0.68239	0.300244987011	0.10437	T	0.105206	0.41547	T	-0.279955	0.10672	T	-0.639913	0.09675	T	0.465413630008698	0.31363	T	0.772923	0.40417	T	0.08472668	0.19623	0.06753237	0.13984	0.08472668	0.19623	0.06753237	0.13983	-4.106	0.25379	T	.	.	0.106	0.19800	B	.;.;.	.;.;.	2.853577	0.37683	20.6	0.98703859220411916	0.44953	0.73601	0.36001	D	AEFDBI	0.443600	0.50084	N	-0.30273542344597	0.29043	1.607174	-0.133557282886895	0.34048	1.954174	0.994935508555241	0.33870	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	3.16	0.35406	0.506000	0.22367	4.055000	0.41540	0.756000	0.94297	0.459000	0.26636	1.000000	0.68203	0.998000	0.85391	0.733:0.0:0.1331:0.134	5.527	0.16255	639	0.64210	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1003.83	68	chr1	169124994	.	A	C	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.19;SOR=0.671	GT:AD:DP:GQ:PL	0/1:33,35:68:99:1014,0,826	5	0	1	0
chr1	169560706	169560706	C	T	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon4:c.G434A:p.G145D	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1303122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.204873407562	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs752741472	4.722e-05	4.72e-05	5.038e-05	4.402e-05	6.116e-05	3.795e-05	3.477e-05	4.9e-05	4.485e-05	0	0	0	0	0	0	6.116e-05	1.657e-05	0	1.973e-05	1.97e-05	3.857e-05	0	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.017	0.51248	D	0.102	0.38450	T	0.974	0.57829	D	0.807	0.58472	P	0.000019	0.62929	D	0.157195	0.995438	0.46009	D	3.215	0.89331	M	-6.09	0.99521	D	-5.17	0.83489	D	0.496	0.52918	1.090	0.99251	D	0.974	0.99185	D	9	0.97191554	0.96819	D	0.204873	0.86954	D	0.734	0.90721	0.924	0.98707	0.913040413464	0.91216	0.823711920094509	0.82328	0.530496566493	0.50589	0.522688508034	0.42004	T	0.741806	0.92855	D	0.205938	0.74447	D	0.0735252	0.75145	D	0.974015355110168	0.70332	D	0.826217	0.48957	T	0.41899857	0.62025	0.61325085	0.77495	0.41899857	0.62026	0.61325085	0.77496	-8.133	0.61973	D	0.803297619415861	0.87962	0.270	0.50370	B	.;.	.;.	4.345533	0.66695	25.0	0.99837930006135611	0.91886	0.88933	0.49107	D	AEFBI	0.420320	0.48719	N	0.536527150390024	0.69265	5.332574	0.466880253346825	0.65809	4.870806	0.999998157115176	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	3.874000	0.55814	5.937000	0.51416	0.549000	0.26987	0.984000	0.35821	1.000000	0.68203	0.902000	0.43815	0.0:0.9249:0.0:0.0751	13.459	0.60666	775	0.48401	Multicopper oxidase, type 3;Multicopper oxidase, type 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1146.83	87	chr1	169560706	.	C	T	1146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.796;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.83;SOR=0.638	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1157,0,1062	5	0	1	0
chr1	169876054	169876054	A	G	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_020423:exon4:c.T389C:p.V130A,SCYL3:NM_181093:exon4:c.T389C:p.V130A	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.134429817425	0.0012	0.00119808	0.0025	0.0002	0.0014	0	0.0029	0.0031	0.0011	0.0036	0.002335	361	154602	rs149229551	0.0019	0.0019	0.0018	0.0020	0.0036	0.0018	0.0018	0.0032	0.0031	0.0002	0.0014	0.0038	0	0.0022	0.0031	0.0018	0.0020	0.0036	0.0016	0.0016	0.0015	0.0016	0.0039	0.0014	0.0013	0.0026	0.0021	0.0002	0.0143	0.0013	0.0046	0	0.0016	0	0.0021	0.0014	0.0039	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.425	0.91960	M	-1.04	0.76561	T	-3.66	0.71639	D	0.845	0.85027	0.449	0.89813	D	0.641	0.87465	D	9	0.023034424	0.00591	T	0.13443	0.81686	D	0.815	0.94046	.	.	0.777902203524	0.77585	0.724757039704619	0.72419	0.838348222315	0.67911	0.687627434731	0.65365	T	0.222092	0.58584	T	0.0175693	0.54052	T	0.250671	0.85649	D	0.0797101259765346	0.09950	T	0.911409	0.69499	D	0.5889375	0.72093	0.6420084	0.79081	0.5889375	0.72094	0.6420084	0.79082	-9.207	0.69019	D	.	.	0.63	0.71382	P	.;.;.;.	.;.;.;.	4.961518	0.82045	27.7	0.99875459185199744	0.95244	0.98980	0.89484	D	AEFBI	0.864882	0.78381	D	0.847975610197684	0.88993	9.792196	0.804255172894076	0.90087	10.25075	0.999999905350496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	8.782000	0.91448	11.077000	0.85682	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.547	0.75846	552	0.72024	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	643.83	68	chr1	169876054	.	A	G	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.319;DP=237;ExcessHet=0;FS=2.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.92;SOR=0.402	GT:AD:DP:GQ:PL	0/1:38,30:68:99:654,0,1028	5	0	1	0
chr1	170167735	170167735	T	C	exonic	METTL11B	.	nonsynonymous SNV	METTL11B:NM_001136107:exon4:c.T830C:p.L277P	.	433	1037	50	2	0	54	0.0253759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	.	0.0096	0.00379393	0.0122	0.0009	0.005	0	0.0021	0.0130	0.0112	0.0171	0.0027425	424	154602	rs144066772	0.0089	0.0085	0.0084	0.0094	0.0178	0.0088	0.0087	0.0150	0.0145	0.0015	0.0048	0.0126	2.798e-05	0.0011	0.0178	0.0093	0.0080	0.0155	0.0067	0.0067	0.0065	0.0069	0.0133	0.0064	0.0062	0.0107	0.0097	0.0015	0	0.0080	0.0130	0.0002	0.0009	0.0136	0.0102	0.0090	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.961	0.70482	D	0.000014	0.62929	D	0.145209	1	0.81001	D	2.92	0.84325	M	0.96	0.42888	T	-5.62	0.86758	D	0.847	0.84298	-0.4702	0.69718	T	0.241	0.60869	T	10	0.012806088	0.00274	T	.	.	.	0.620	0.85249	.	.	0.202086224978	0.19791	0.9918532488059894	0.99180	.	.	0.498373031616	0.38601	T	0.172237	0.52065	T	-0.0719823	0.41007	T	0.13615	0.79294	D	0.0186801547117924	0.00581	T	0.568143	0.20156	T	0.9848461	0.99457	0.94898534	0.98338	0.9848461	0.99457	0.94898534	0.98338	-12.908	0.88980	D	.	.	0.914	0.83719	P	.	.	4.620278	0.73354	26.0	0.99861864283003476	0.94002	0.99628	0.98136	D	AEFDBI	0.925043	0.90398	D	0.701806787569926	0.79750	7.144214	0.606312696634307	0.75399	6.30337	0.999999998258667	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.346000	0.78586	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:0.0:1.0	15.384	0.74403	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014286	0.000000	0.007246	0.008850	0.000000	0.000000	0.022472	0.024390	0.1667	3489.06	151	chr1	170167735	.	T	C	3489.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.735;DP=420;ExcessHet=0.4139;FS=0.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.549;SOR=0.617	GT:AD:DP:GQ:PL	0/1:70,81:151:99:1978,0,1850	4	0	2	0
chr1	171103875	171103875	C	T	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001002294:exon3:c.C223T:p.P75S,FMO3:NM_006894:exon3:c.C223T:p.P75S,FMO3:NM_001319173:exon4:c.C163T:p.P55S	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0559970949651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.008	0.67890	D	0.669	0.41149	P	0.461	0.46460	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	0.08	0.61559	T	-6.71	0.92518	D	0.743	0.74280	-0.3866	0.72448	T	0.268	0.63908	T	10	0.818694	0.81088	D	0.055997	0.66441	D	0.424	0.73226	0.699	0.83592	0.616128506455	0.61303	0.7061599875267478	0.70557	0.218061680448	0.24340	0.494248509407	0.38029	T	0.069548	0.33736	T	0.126561	0.67024	D	-0.05598	0.66612	D	0.995392203330994	0.87345	D	0.867413	0.56831	D	0.55794144	0.70395	0.54589343	0.73750	0.55794144	0.70397	0.54589343	0.73751	-7.568	0.58087	D	0.5450301876973181	0.61423	0.202	0.47955	B	.;.	.;.	4.371565	0.67311	25.1	0.99802996285889312	0.88728	0.97642	0.76102	D	AEFGBI	0.966083	0.98847	D	0.31768943036904	0.57057	3.871678	0.226521279571504	0.51326	3.315933	0.999999999522694	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	7.846000	0.85175	5.811000	0.50008	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.515000	0.29359	0.0:1.0:0.0:0.0	17.247	0.86914	717	0.55835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1388.83	144	chr1	171103875	.	C	T	1388.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.144;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.664;SOR=0.67	GT:AD:DP:GQ:PL	0/1:85,59:144:99:1399,0,2166	5	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4922.72	72	chr1	175160810	.	C	*	4922.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.618;DP=357;ExcessHet=1.383;FS=6.122;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.966;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,34:72:99:1|0:175160788_C_CCTT:1138,0,1414:175160788	3	0	3	0
chr1	184037246	184037246	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.G112A:p.D38N,COLGALT2:NM_015101:exon1:c.G112A:p.D38N	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0027	0.00479233	0.0120	0.0014	0.0094	0	0.0453	0.0126	0.0099	0.0138	0.0052651	814	154602	rs150084895	0.0051	0.0052	0.0048	0.0054	0.0216	0.0050	0.0050	0.0183	0.0171	0.0007	0.0043	0.0024	2.619e-05	0.0248	0.0216	0.0041	0.0054	0.0112	0.0058	0.0059	0.0051	0.0066	0.0118	0.0055	0.0054	0.0093	0.0085	0.0007	0.0077	0.0035	0.0023	0	0.0232	0.0068	0.0070	0.0062	0.0118	0.165	0.23271	T	0.203	0.27325	T	0.355	0.33731	B	0.017	0.18140	B	0.128417	0.18732	U	0.382523	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.17	0.09627	N	0.205	0.22742	-0.9687	0.37468	T	0.134	0.44739	T	10	0.0023701787	0.00035	T	.	.	.	0.159	0.41286	.	.	0.750438010542	0.74818	0.3154112362772674	0.31454	0.307476924182	0.33042	0.718976080418	0.69897	T	0.011471	0.10227	T	-0.506178	0.00528	T	-0.48819	0.23581	T	0.0196489811530059	0.00668	T	0.593441	0.21910	T	0.13396578	0.31141	0.07665079	0.16999	0.13396578	0.31141	0.07665079	0.16998	-6.201	0.47931	T	.	.	0.079	0.07507	B	.;.	.;.	2.040364	0.25936	16.94	0.99615728071122844	0.75112	0.27546	0.23308	N	ALL	0.167023	0.29366	N	-0.624906000972439	0.18199	0.9428884	-0.578540715158823	0.20054	1.078686	0.999999999999989	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	0.629000	0.24229	3.634000	0.39325	0.499000	0.22661	0.113000	0.23048	0.813000	0.27056	0.926000	0.46234	0.0:1.0:0.0:0.0	11.624	0.50390	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022358	0.010526	0.016304	0.040936	0.150000	0.034483	0.012346	0.015267	0.08333	999.83	84	chr1	184037246	.	C	T	999.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.249;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.828;SOR=0.693	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1010,0,1099	5	0	1	0
chr1	196258416	196258416	G	A	exonic	KCNT2	.	nonsynonymous SNV	KCNT2:NM_001287819:exon25:c.C2917T:p.R973C,KCNT2:NM_001287820:exon25:c.C2788T:p.R930C,KCNT2:NM_198503:exon26:c.C2989T:p.R997C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0177911499193	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs750292796	2.943e-05	2.942e-05	3.132e-05	2.751e-05	3.689e-05	2.217e-05	1.971e-05	2.744e-05	2.47e-05	0	0	0	0	3.748e-05	0	3.689e-05	0	0	6.577e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.011	0.70582	D	0.994	0.73220	D	0.646	0.60170	P	0.000011	0.62929	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.0	0.21473	T	-2.23	0.50012	N	0.425	0.46462	-0.8529	0.51767	T	0.178	0.52350	T	10	0.26703066	0.44211	T	0.017791	0.39625	T	0.220	0.51569	0.246	0.18139	0.117191471859	0.11215	0.8404780168432421	0.84007	1.36181686996	0.84354	0.732607662678	0.71888	T	0.112358	0.42857	T	0.150225	0.69289	D	-0.00650196	0.69912	D	0.777657329520261	0.44904	D	0.970603	0.89831	D	0.17621371	0.38522	0.12584665	0.30316	0.17621371	0.38522	0.12584665	0.30315	-7.158	0.58415	T	.	.	0.356	0.56990	A	.;.;.	.;.;.	4.487666	0.70070	25.5	0.99926098839163469	0.99103	0.93859	0.59398	D	AEFI	0.721058	0.67142	D	0.562431074842118	0.70842	5.561348	0.537338676882643	0.70522	5.517497	0.911471006113992	0.26368	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	1.524000	0.35549	2.270000	0.31824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.912	0.97028	485	0.77085	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	985.83	89	chr1	196258416	.	G	A	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=282;ExcessHet=0;FS=1.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.81;SOR=0.507	GT:AD:DP:GQ:PL	0/1:49,40:89:99:996,0,1205	5	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T,RNPEP:NM_001319184:exon10:c.G1018A:p.A340T,RNPEP:NM_001319182:exon11:c.G1495A:p.A499T,RNPEP:NM_020216:exon11:c.G1888A:p.A630T	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase 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	0.006546	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.003788	0.1667	1131.06	71	chr1	202005651	.	G	A	1131.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.93;DP=271;ExcessHet=0.4139;FS=11.589;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.42;SOR=0.467	GT:AD:DP:GQ:PL	0/1:44,27:71:99:617,0,1184	4	0	2	0
chr1	204257768	204257768	C	T	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon9:c.G1109A:p.R370Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.029036887526	.	.	8.642e-05	0	0	0	0	1.558e-05	0	0.0006	6.47e-05	10	154602	rs770150553	4.105e-05	4.104e-05	1.906e-05	6.326e-05	0.0005	3.245e-05	2.92e-05	0.0004	0.0004	0	4.475e-05	0	0	0	0	6.295e-06	6.624e-05	0.0005	5.915e-05	5.91e-05	3.855e-05	8.072e-05	0.0012	3.078e-05	2.21e-05	0.0005	0.0004	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0012	0.062	0.38185	T	0.026	0.55759	D	0.998	0.73220	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	2.54	0.13916	T	-2.48	0.56144	N	0.797	0.81658	-1.1395	0.01377	T	0.096	0.36238	T	10	0.1468662	0.27837	T	0.029037	0.51617	D	0.187	0.46274	0.309	0.28128	0.179529687257	0.17594	0.5513837782667352	0.55064	0.567583180435	0.53013	0.678861439228	0.64105	T	0.269796	0.64202	T	-0.230446	0.16589	T	-0.192951	0.55312	T	0.329253703355789	0.26194	T	0.987176	0.95613	D	0.2385358	0.46732	0.18993992	0.42369	0.2385358	0.46732	0.18993992	0.42368	-8.181	0.62296	D	.	.	0.316	0.54183	B	.;.;.	.;.;.	4.512343	0.70673	25.6	0.9995413735189016	0.99963	0.94163	0.60304	D	AEFDGBHCI	0.851047	0.76789	D	0.718317839712217	0.80834	7.38278	0.692551520631956	0.81814	7.615215	0.999999999999999	0.74766	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.67	5.67	0.87673	6.829000	0.75105	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:1.0:0.0:0.0	19.726	0.96160	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	.	.	.	.	.	.	.	.	0.08333	1277.83	68	chr1	204257768	.	C	T	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=248;ExcessHet=0;FS=2.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=0.295;SOR=1.144	GT:AD:DP:GQ:PL	0/1:24,44:68:99:1288,0,569	5	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	.	.	.	.	.	.	.	.	0.25	804.23	124	chr1	204444146	.	C	T	804.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,25:124:99:0|1:204444146_C_T:264,0,3326:204444146	3	0	3	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	.	.	.	.	.	.	.	.	0.1667	299.06	124	chr1	204444147	.	A	G	299.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.023;DP=497;ExcessHet=0.4139;FS=229.318;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.95;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,25:124:99:0|1:204444146_C_T:264,0,3326:204444146	4	0	2	0
chr1	204460551	204460551	G	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon6:c.C1421T:p.T474M,PIK3C2B:NM_001377335:exon8:c.C1421T:p.T474M,PIK3C2B:NM_002646:exon8:c.C1421T:p.T474M	.	.	.	.	.	.	.	.	0.9925	0.826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	0.0002	0.00299521	0.0014	0	0	0	0	4.497e-05	0.0033	0.0096	0.0012096	187	154602	rs142843233	0.0006	0.0006	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	5.982e-05	6.708e-05	0	2.519e-05	0	0.0002	6.123e-05	0.0006	0.0085	0.0003	0.0003	0.0001	0.0006	0.0098	0.0003	0.0002	0.0075	0.0068	7.225e-05	0	0	0	0	0	0	0	0	0.0098	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.003573	0.34767	N	0.219340	0.999989	0.54805	D	2.365	0.68172	M	-0.07	0.63911	T	-4.93	0.81755	D	0.898	0.89800	-0.1844	0.78069	T	0.423	0.76776	T	10	0.01604557	0.00337	T	.	.	.	0.391	0.70684	.	.	0.661679532079	0.65884	0.5854354427262264	0.58472	1.04273536759	0.75854	0.611482024193	0.54525	T	0.422863	0.77380	T	-0.110703	0.34653	T	0.0753134	0.75265	D	0.136017756405682	0.15928	T	0.908909	0.67748	D	0.39798927	0.60593	0.41342792	0.65516	0.39798927	0.60593	0.41342792	0.65516	-3.884	0.22062	T	.	.	0.111	0.21653	B	.;.	.;.	5.734905	0.93300	33	0.99916544118023132	0.98449	0.96724	0.70600	D	AEFBCI	0.887121	0.81909	D	0.741507524134476	0.82350	7.741082	0.748346856488072	0.86032	8.761762	0.999999999999145	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.81	5.81	0.92413	8.374000	0.90026	8.668000	0.77998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.618000	0.31844	0.0:0.0:1.0:0.0	16.991	0.86226	624	0.65661	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1235.83	113	chr1	204460551	.	G	A	1235.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.34;DP=288;ExcessHet=0;FS=7.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.285;SOR=1.442	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1246,0,1674	5	0	1	0
chr1	206453238	206453238	G	A	exonic	SRGAP2	.	nonsynonymous SNV	SRGAP2:NM_001170637:exon20:c.G2215A:p.V739M,SRGAP2:NM_001300952:exon20:c.G2215A:p.V739M,SRGAP2:NM_001377444:exon20:c.G2218A:p.V740M,SRGAP2:NM_001377445:exon20:c.G2218A:p.V740M,SRGAP2:NM_001377446:exon20:c.G2215A:p.V739M,SRGAP2:NM_001377447:exon20:c.G2218A:p.V740M,SRGAP2:NM_015326:exon20:c.G2218A:p.V740M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	rs368723990	5.772e-05	9.065e-05	4.527e-05	6.811e-05	0.0003	4.1e-05	3.442e-05	0.0002	0.0001	0.0003	7.359e-05	0	0.0003	0	0	3.687e-05	3.838e-05	3.875e-05	7.882e-05	7.875e-05	8.995e-05	6.718e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.916e-05	0.0002	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	0.082	0.43913	T	0.05	0.22331	B	0.094	0.30180	B	0.008540	0.30795	N	0.312834	.	.	.	.	.	.	0.78	0.49358	T	.	.	.	0.137	0.13484	-0.9912	0.32295	T	0.075	0.30148	T	8	0.17096573	0.31789	T	.	.	.	.	.	.	.	0.395745362164	0.39188	0.1591089622911344	0.15831	.	.	0.697747349739	0.66819	T	0.030764	0.39759	T	-0.0903681	0.38015	T	-0.367584	0.37172	T	0.695082545280457	0.40485	D	0.875412	0.64303	D	0.09872398	0.23291	0.11318143	0.27313	0.09872398	0.23290	0.11318143	0.27312	-8.0	0.61071	D	.	.	0.095	0.17995	B	.;.;.;.;.	.;.;.;.;.	3.584361	0.50547	23.0	0.99805941318407054	0.88995	0.74127	0.36259	D	AEFGBI	0.118969	0.23241	N	-0.118495355670755	0.36587	2.116867	-0.0276477651258237	0.38472	2.267031	0.935049347170444	0.27197	0.706548	0.73137	0	0.708844	0.79440	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.62	2.37	0.28337	0.233000	0.17689	3.006000	0.35941	0.676000	0.76740	0.973000	0.34540	0.999000	0.35428	0.998000	0.85391	0.3415:0.1587:0.4998:0.0	4.904	0.13144	.	.	SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1187.83	93	chr1	206453238	.	G	A	1187.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=264;ExcessHet=0;FS=0.776;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.328;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,48:93:99:0|1:206453238_G_A:1198,0,1633:206453238	5	0	1	0
chr1	206685381	206685381	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_004759:exon1:c.G152T:p.G51V,MAPKAPK2:NM_032960:exon1:c.G152T:p.G51V	.	256	1256	10	0	0	10	0.00396511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0002	0.0279553	0.0136	0	0.0005	0.0001	0	0.0001	0.0024	0.0981	0.0112353	1737	154602	rs146073998	0.0055	0.0055	0.0031	0.0079	0.0857	0.0054	0.0053	0.0840	0.0833	0.0003	0.0001	0	3.245e-05	0	0.0029	0.0001	0.0070	0.0857	0.0033	0.0032	0.0018	0.0048	0.0976	0.0030	0.0029	0.0904	0.0875	0.0002	0	0	0	0	0	0	8.946e-05	0.0005	0.0976	0.06	0.37326	T	0.071	0.47097	T	0.984	0.62824	D	0.68	0.53472	P	.	.	.	.	0.999989	0.54805	D	0.345	0.11182	N	-0.33	0.68754	T	-0.68	0.19509	N	0.041	0.01421	-0.9847	0.33903	T	0.153	0.48222	T	9	0.0013119876	0.00014	T	.	.	.	0.127	0.34888	.	.	.	.	0.175511379790726	0.17470	1.36617559106	0.84444	0.868062615395	0.92291	D	0.130329	0.45915	T	-0.560288	0.00253	T	-0.509048	0.21412	T	0.036292017674448	0.03032	T	0.79922	0.44465	T	0.2844373	0.51471	0.13150962	0.31578	0.2844373	0.51471	0.13150962	0.31577	0.589	0.00195	T	.	.	0.124	0.26042	B	.;.	.;.	2.133326	0.27159	17.37	0.98488490128843242	0.42061	0.13210	0.17726	N	ALL	0.210308	0.33621	N	-0.469745816540533	0.23076	1.23667	-0.507541030825225	0.21948	1.189749	0.999999888101224	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	3.32	2.36	0.28258	0.160000	0.16278	5.140000	0.47705	0.523000	0.23987	0.016000	0.19238	1.000000	0.68203	0.948000	0.49324	0.0:0.4431:0.5569:0.0	9.126	0.35973	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009865	0.000000	0.000000	0.006993	0.000000	0.000000	0.006135	0.026515	0.08333	2261.83	161	chr1	206685381	.	G	T	2261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.416;DP=331;ExcessHet=0;FS=7.048;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-2.275;SOR=0.36	GT:AD:DP:GQ:PL	0/1:64,97:161:99:2272,0,1431	5	0	1	0
chr1	206866568	206866568	T	C	exonic	IL20	.	nonsynonymous SNV	IL20:NM_001385165:exon4:c.T310C:p.Y104H,IL20:NM_018724:exon4:c.T310C:p.Y104H,IL20:NM_001385166:exon5:c.T310C:p.Y104H,IL20:NM_001385167:exon6:c.T310C:p.Y104H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00379393	0.0017	0	0	0	0	2.997e-05	0	0.0124	0.0014812	229	154602	rs201490344	0.0006	0.0006	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	0	2.236e-05	0	0	0	0.0002	2.338e-05	0.0006	0.0100	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	4.812e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0135	1.0	0.00964	T	0.699	0.05939	T	0.0	0.02946	B	0.001	0.04355	B	0.246494	0.15600	N	0.656007	1	0.08975	N	-1.5	0.00507	N	0.02	0.62318	T	1.74	0.00570	N	0.14	0.20660	-0.9928	0.31880	T	0.040	0.17106	T	10	0.0030531287	0.00050	T	.	.	.	0.053	0.14996	.	.	0.301455362545	0.29754	0.1936942681071132	0.19287	0.124854956626	0.14065	0.30922806263	0.11790	T	0.059743	0.31197	T	-0.659272	0.00063	T	-0.71038	0.05276	T	0.0227599073531445	0.00996	T	0.373463	0.08871	T	0.097940125	0.23094	0.03135029	0.01710	0.097940125	0.23094	0.03135029	0.01710	-2.661	0.06981	T	.	.	0.050	0.00203	B	.;.;.	.;.;.	0.505943	0.08752	5.524	0.088730331886267236	0.00078	0.00292	0.01564	N	AEBI	0.023229	0.01266	N	-1.4378325824448	0.02314	0.1020381	-1.30872556397519	0.04316	0.2033346	0.999592916998894	0.40745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.06	0.468	0.15943	0.292000	0.18766	0.995000	0.23219	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.1637:0.4927:0.1593:0.1844	1.801	0.02885	683	0.59664	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1236.83	110	chr1	206866568	.	T	C	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=312;ExcessHet=0;FS=2.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.302;SOR=0.998	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1247,0,1756	5	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.47	78	chr1	220074013	.	G	A	56.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.315;DP=306;ExcessHet=0;FS=257.957;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=0.683;SOR=7.824	GT:AD:DP:GQ:PL	0/1:54,24:78:66:66,0,888	5	0	1	0
chr1	231206722	231206722	G	A	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon7:c.G1751A:p.R584Q,TRIM67:NM_001300889:exon9:c.G1565A:p.R522Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0384793762465	8e-05	0.00179712	0.0006	0.0001	0.0002	0	0	0.0002	0	0.0038	0.0005757	89	154602	rs201556896	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0029	2.994e-05	6.764e-05	0.0005	0	0	0.0024	0.0001	0.0004	0.0034	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0001	0.0024	0.0020	4.812e-05	0	0.0001	0.0014	0	0	0	0.0001	0	0.0037	0.002	0.72154	D	0.0	0.92824	D	0.966	0.56202	D	0.861	0.61279	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	1.27	0.36146	T	-3.59	0.70432	D	0.954	0.96302	-0.3588	0.73298	T	0.292	0.66326	T	10	0.03025198	0.01152	T	0.038479	0.58245	D	0.513	0.79156	.	.	0.612009523599	0.60888	0.7362209301380824	0.73567	0.953520437991	0.72732	0.848494052887	0.89387	D	0.083552	0.51462	T	-0.0530675	0.43980	T	0.14889	0.80113	D	0.178991988301277	0.19171	T	0.997	0.98929	D	0.62041056	0.73785	0.5503263	0.74000	0.62041056	0.73787	0.5503263	0.74000	-8.895	0.68152	D	.	.	0.678	0.80177	P	.;.;.	.;.;.	5.593330	0.92398	32	0.99941543359283624	0.99797	0.98821	0.87296	D	AEFDBI	0.927610	0.91053	D	0.861364038067857	0.89744	10.09984	0.772812015517491	0.87848	9.366179	0.999999999999965	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	9.846000	0.98365	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	19.761	0.96315	884	0.28482	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	0.002014	0.000000	0.000000	0.008772	0.050000	0.000000	0.000000	0.000000	0.08333	1576.83	119	chr1	231206722	.	G	A	1576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=291;ExcessHet=0;FS=0.679;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.08;SOR=0.79	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1587,0,1329	5	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3786.15	63	chr1	240207634	.	G	*	3786.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=478;ExcessHet=0.1336;FS=6.604;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.497;QD=14.18;ReadPosRankSum=-2.941;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,29:63:99:0|1:240207613_TGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC_T:1098,0,1311:240207613	5	0	1	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3922.71	63	chr1	240207641	.	T	*	3922.71	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=487;ExcessHet=0.1336;FS=8.976;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.568;QD=14.32;ReadPosRankSum=-2.852;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,29:63:99:0|1:240207613_TGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC_T:1098,0,1311:240207613	5	0	1	0
chr1	247857547	247857547	G	T	exonic	TRIM58	.	stopgain	TRIM58:NM_015431:exon1:c.G301T:p.E101X	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0090	0	0	0	0	0.0114	0	0.0238	0.0003493	54	154602	rs539377117	0.0014	0.0012	0.0013	0.0014	0.0040	0.0013	0.0013	0.0034	0.0032	8.689e-05	0.0005	0.0002	0	0.0007	0.0039	0.0014	0.0011	0.0040	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0006	0.0022	0.0018	0.0002	0	0.0003	0	0	0.0004	0	0.0012	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.008747	0.30686	N	0.225800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0921163	0.63427	D	0.357121	0.90594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.784188	0.96858	36	0.99346496703570719	0.60412	0.68405	0.33790	D	AEFDBHCIJ	0.150607	0.27492	N	0.160084756337063	0.49291	3.131097	-0.174687774665594	0.32471	1.847651	0.999999999998253	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.34	2.4	0.28568	3.048000	0.49552	.	.	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.3608:0.6392:0.0	12.488	0.55224	958	0.09170	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	0.003834	0.000000	0.006042	0.000000	0.000000	0.000000	0.013514	0.004132	0.08333	282.85	26	chr1	247857547	.	G	T	282.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.466;DP=93;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.898;SOR=0.458	GT:AD:DP:GQ:PL	0/1:13,13:26:99:293,0,346	5	0	1	0
chr1	247864796	247864796	G	A	exonic	TRIM58	.	nonsynonymous SNV	TRIM58:NM_015431:exon3:c.G608A:p.R203Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0058	0.00638978	0.0017	0.0200	0.0004	0	0	3.076e-05	0.0011	0	0.0016494	255	154602	rs61730479	0.0005	0.0005	0.0005	0.0004	0.0182	0.0005	0.0004	0.0170	0.0165	0.0182	0.0006	0	0	0	0.0004	1.169e-05	0.0010	3.478e-05	0.0050	0.0050	0.0052	0.0048	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0012	0	0	0	0.0068	2.94e-05	0.0028	0.0002	0.112	0.28900	T	0.155	0.31936	T	0.033	0.20350	B	0.018	0.18489	B	0.130852	0.18644	N	0.423929	1	0.08975	N	1.875	0.49914	L	3.58	0.04594	T	-1.72	0.40850	N	0.231	0.25989	-1.0157	0.25110	T	0.007	0.02244	T	10	0.004550487	0.00094	T	.	.	.	0.014	0.01968	.	.	0.0920862733494	0.08535	0.12158439442137597	0.12085	0.0887304740811	0.10031	0.341002047062	0.16589	T	0.012746	0.11148	T	-0.682672	0.00046	T	-0.739108	0.03929	T	0.00229692957054996	0.00024	T	0.69993	0.30971	T	0.05466991	0.10520	0.05604559	0.09943	0.05466991	0.10519	0.05604559	0.09942	-5.073	0.37622	T	.	.	0.085	0.10159	B	.	.	1.103962	0.14884	11.41	0.98196053780010595	0.39079	0.02618	0.07200	N	AEFDBI	0.054732	0.09978	N	-0.87157437983737	0.11522	0.5565049	-0.964542651178105	0.10587	0.5341962	7.62946169329707E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.25	1.36	0.21139	0.388000	0.20461	.	.	-0.113000	0.14837	0.000000	0.06391	0.002000	0.18203	0.004000	0.06068	0.431:0.0:0.569:0.0	5.615	0.16708	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1113.83	94	chr1	247864796	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=274;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.28;SOR=0.487	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1124,0,1184	5	0	1	0
chr1	248061184	248061184	G	-	exonic	OR2L3	.	frameshift deletion	OR2L3:NM_001004687:exon1:c.503delG:p.C168Sfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.947e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs754670403	8.211e-06	9.577e-06	9.531e-06	6.877e-06	0.0002	4.38e-06	3.46e-06	7.724e-05	5.313e-05	0.0002	0	0	0	0	0	8.995e-07	8.28e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	9.193e-05	7.742e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3458.79	317	chr1	248061183	.	TG	T	3458.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.26;DP=631;ExcessHet=0;FS=5.414;MLEAC=1;MLEAF=0.083;MQ=53.93;MQRankSum=-10.34;QD=10.91;ReadPosRankSum=1.07;SOR=0.979	GT:AD:DP:GQ:PL	0/1:207,110:317:99:3469,0,8231	5	0	1	0
chr1	248203299	248203299	G	A	exonic	OR2M3	.	nonsynonymous SNV	OR2M3:NM_001004689:exon1:c.G232A:p.V78I	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0077	0.00758786	0.0024	0.0249	0.0010	0	0	0.0003	0.0044	0	0.0023092	357	154602	rs141884297	0.0009	0.0009	0.0009	0.0008	0.0236	0.0008	0.0008	0.0223	0.0217	0.0236	0.0019	0	2.519e-05	0	0.0033	0.0002	0.0023	0.0001	0.0072	0.0072	0.0072	0.0072	0.0237	0.0069	0.0067	0.0225	0.0220	0.0237	0	0.0050	0	0	0	0.0034	0.0002	0.0090	0.0006	0.062	0.36912	T	0.132	0.34477	T	0.584	0.38894	P	0.226	0.38054	B	0.169389	0.17420	N	0.307216	1	0.08975	N	1.07	0.27075	L	4.16	0.02791	T	-0.79	0.21860	N	0.04	0.01347	-0.9221	0.45265	T	0.004	0.01159	T	10	0.0049291253	0.00106	T	.	.	.	0.058	0.16647	.	.	0.203808441222	0.19973	0.037155270038555864	0.03662	0.0590075676526	0.06553	0.255547016859	0.04374	T	0.00589	0.05335	T	-0.766151	0.00014	T	-0.853027	0.00922	T	0.00650896351538766	0.00073	T	0.842016	0.51794	T	0.037625518	0.04859	0.04759209	0.06887	0.037625518	0.04859	0.04759209	0.06887	-5.254	0.39486	T	.	.	0.096	0.15341	B	.;.	.;.	1.881717	0.23898	16.19	0.97015979273823127	0.32006	0.00255	0.01401	N	AEFI	0.014324	0.00223	N	-0.633002895738426	0.17959	0.9285716	-0.742858380930332	0.15897	0.8384088	2.17526011209308E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.44	2.44	0.28875	-2.950000	0.00743	-6.325000	0.01430	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.1509:0.2532:0.5959:0.0	3.930	0.08779	976	0.04745	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	0.006871	0.020202	0.009511	0.004098	0.000000	0.008621	0.003049	0.000000	0.08333	5142.83	310	chr1	248203299	.	G	A	5142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.62;DP=488;ExcessHet=0;FS=0.415;MLEAC=1;MLEAF=0.083;MQ=57.12;MQRankSum=-2.286;QD=16.59;ReadPosRankSum=-1.808;SOR=0.651	GT:AD:DP:GQ:PL	0/1:134,176:310:99:5153,0,3233	5	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1377.83	99	chr1	248441544	.	G	A	1377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.982;DP=569;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=45.66;MQRankSum=7.83;QD=13.92;ReadPosRankSum=3.41;SOR=0.745	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1388,0,1312	5	0	1	0
chr1	248453739	248453739	-	ATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT	exonic	OR2T2	.	stopgain	OR2T2:NM_001004136:exon1:c.942_943insATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT:p.A318Mfs*4	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	6.515e-05	0.0003	7.098e-05	5.926e-05	0.0026	5.441e-05	5.054e-05	0.0021	0.0020	0.0026	0.0001	0	0	0	0.0002	0	0.0001	0	0.0007	0.0037	0.0007	0.0006	0.0025	0.0006	0.0005	0.0021	0.0020	0.0025	0	0.0001	0	0	0	0.0105	1.473e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	420.79	178	chr1	248453739	.	C	CATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT	420.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.257;DP=540;ExcessHet=0;FS=5.957;MLEAC=1;MLEAF=0.083;MQ=50.95;MQRankSum=-1.967;QD=2.36;ReadPosRankSum=-6.845;SOR=0.953	GT:AD:DP:GQ:PL	0/1:156,22:178:99:431,0,6401	5	0	1	0
chr1	248488736	248488736	A	G	exonic	OR2T5	.	nonsynonymous SNV	OR2T5:NM_001004697:exon1:c.A148G:p.I50V	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0017	.	0.0040	0.0519	0.0018	0.0008	0	0.0001	0.0036	0.0076	0.0004226	11	26028	rs143671706	0.0011	0.0015	0.0010	0.0011	0.0301	0.0010	0.0010	0.0282	0.0274	0.0301	0.0013	0	0.0003	0	0.0021	4.982e-05	0.0025	0.0053	0.0034	0.0076	0.0032	0.0036	0.0174	0.0031	0.0030	0.0159	0.0153	0.0174	0	0.0009	0	0	0	0	8.005e-05	0.0034	0.0035	.	.	.	.	.	.	0.076	0.24253	B	0.057	0.26280	B	0.000287	0.46274	D	0.000000	1	0.08975	N	1.66	0.42513	L	.	.	.	.	.	.	.	.	-0.9683	0.37551	T	0.001	0.00222	T	10	0.0038287342	0.00072	T	.	.	.	.	.	.	.	.	.	0.05167285982218895	0.05109	.	.	0.345164209604	0.17207	T	0.004022	0.03433	T	-0.59286	0.00161	T	-0.594392	0.13287	T	0.00552354011378779	0.00060	T	.	.	.	0.1290702	0.30156	0.073580906	0.16005	0.1290702	0.30156	0.073580906	0.16004	-4.95	0.36292	T	.	.	0.132	0.28521	B	.	.	0.818719	0.11898	8.463	0.66550244410202553	0.08092	0.01591	0.05172	N	AEFI	0.033306	0.03923	N	-0.717073567595196	0.15542	0.7841526	-0.741984737242064	0.15919	0.83965	6.86099449116442E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.64	2.64	0.30504	0.243000	0.17880	-2.464000	0.03722	0.558000	0.28311	0.013000	0.18845	0.000000	0.08366	0.002000	0.04165	1.0:0.0:0.0:0.0	9.867	0.40319	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009033	0.000000	0.020436	0.004098	0.000000	0.000000	0.000000	0.000000	0.08333	811.83	103	chr1	248488736	.	A	G	811.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=509;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=30.73;MQRankSum=0.012;QD=7.88;ReadPosRankSum=-1.35;SOR=0.888	GT:AD:DP:GQ:PL	0/1:61,42:103:99:822,0,1355	5	0	1	0
chr1	248559344	248559344	T	C	exonic	OR2T29;OR2T5	.	nonsynonymous SNV	OR2T29:NM_001004694:exon1:c.A148G:p.I50V,OR2T5:NM_001004697:exon1:c.A148G:p.I50V	.	464	1051	7	0	0	7	0.00331911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0131	.	0.0067	0.0481	0.0031	0.0008	0	0.0002	0.0051	0.0112	0.0001537	4	26028	rs375047963	0.0014	0.0016	0.0013	0.0015	0.0260	0.0013	0.0013	0.0245	0.0239	0.0260	0.0018	0	0.0005	0	0.0032	8.92e-05	0.0035	0.0069	0.0097	0.0091	0.0091	0.0103	0.0226	0.0090	0.0088	0.0211	0.0205	0.0226	0	0.0044	0	0.0016	0	0	0.0002	0.0084	0.0156	0.197	0.20607	T	0.241	0.24334	T	0.076	0.24253	B	0.057	0.26280	B	0.000287	0.46274	D	0.000000	1	0.08975	N	1.095	0.27400	L	7.77	0.00338	T	-0.82	0.22508	N	0.11	0.09631	-0.9511	0.40782	T	0.000	0.00114	T	10	0.008982301	0.00203	T	.	.	.	0.060	0.17295	.	.	0.521491996246	0.51792	0.04044541805046054	0.03990	1.6842048555	0.90037	0.284375488758	0.08110	T	0.002219	0.01623	T	-0.385014	0.02896	T	-0.790823	0.02142	T	0.00306081240462045	0.00032	T	0.663034	0.27207	T	0.16863716	0.37334	0.08079859	0.18309	0.16863716	0.37333	0.08079859	0.18309	-4.965	0.36458	T	.	.	0.148	0.32613	B	.;.	.;.	0.743538	0.11128	7.774	0.53575851636748217	0.04967	0.04528	0.10159	N	AEFI	0.050884	0.08937	N	-0.746120549974907	0.14739	0.7367625	-0.766275580193238	0.15324	0.8053032	1.69163343386718E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.73	1.49	0.21966	-0.646000	0.05501	-2.685000	0.03469	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.0:0.1439:0.0:0.8561	6.136	0.19448	976	0.04745	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	0.006637	0.000000	0.013661	0.003817	0.000000	0.000000	0.000000	0.000000	0.08333	329.83	92	chr1	248559344	.	T	C	329.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.192;DP=288;ExcessHet=0;FS=14.574;MLEAC=1;MLEAF=0.083;MQ=43.33;MQRankSum=-3.387;QD=3.59;ReadPosRankSum=-0.794;SOR=3.433	GT:AD:DP:GQ:PL	0/1:76,16:92:99:340,0,2175	5	0	1	0
chr1	248650803	248650804	AG	-	exonic	OR2T27	.	frameshift deletion	OR2T27:NM_001001824:exon1:c.81_82del:p.F28Cfs*83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1370108189	1.302e-05	0.0002	1.773e-05	8.264e-06	0.0002	8.33e-06	6.71e-06	0.0001	8.769e-05	0.0002	6.731e-05	0	2.52e-05	0	0	3.602e-06	4.979e-05	0	0.0015	0.0062	0.0015	0.0015	0.0048	0.0013	0.0013	0.0043	0.0041	0.0048	0	0.0012	0	0	0	0	5.948e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46.79	55	chr1	248650802	.	AAG	A	46.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=414;ExcessHet=0;FS=8.076;MLEAC=1;MLEAF=0.083;MQ=43.05;MQRankSum=-0.86;QD=0.85;ReadPosRankSum=-1.582;SOR=1.903	GT:AD:DP:GQ:PL	0/1:50,5:55:57:57,0,2051	5	0	1	0
chr2	10768726	10768726	C	T	exonic	ATP6V1C2	.	nonsynonymous SNV	ATP6V1C2:NM_001039362:exon6:c.C386T:p.A129V,ATP6V1C2:NM_144583:exon6:c.C386T:p.A129V	.	431	1088	3	0	0	3	0.00137678	.	.	.	2342162	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.0105355701003	7.7e-05	.	0.0002	0	0	0.0001	0	0.0002	0.0011	6.06e-05	0.0001294	20	154602	rs371007689	0.0001	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	8.961e-05	0	3.826e-05	0	1.878e-05	0.0009	0.0002	0.0001	4.637e-05	0.0001	0.0001	0.0001	6.712e-05	0.0002	6.505e-05	5.318e-05	0.0001	7.893e-05	0	0	0.0001	0	0	9.42e-05	0	0.0002	0.0005	0	0.009	0.57480	D	0.05	0.48080	T	0.89	0.48942	P	0.322	0.41795	B	0.001539	0.38731	N	0.259454	0.902033	0.36195	D	0.91	0.23283	L	0.89	0.45636	T	-1.89	0.45222	N	0.102	0.20129	-0.8961	0.48380	T	0.100	0.37213	T	10	0.21684864	0.38279	T	0.010536	0.27195	T	0.077	0.22490	.	.	0.453588565359	0.44983	0.3095173161531783	0.30864	0.179474252234	0.20186	0.389189988375	0.23555	T	0.022538	0.17359	T	-0.356263	0.04345	T	-0.453331	0.27329	T	0.095609894201499	0.11867	T	0.859314	0.55085	D	0.14614101	0.33468	0.17261438	0.39529	0.14614101	0.33467	0.17261438	0.39528	-5.084	0.38952	T	.	.	0.108	0.21877	B	.;.;.;.	.;.;.;.	3.990118	0.58720	24.0	0.99823740242084635	0.90590	0.92101	0.54947	D	AEFDGBI	0.445790	0.50212	N	0.241582936671042	0.53224	3.492302	0.290431930706035	0.54978	3.661587	0.999999993867611	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	2.941000	0.48703	2.621000	0.33635	0.599000	0.40250	0.957000	0.33433	0.992000	0.31684	0.556000	0.30317	0.0:1.0:0.0:0.0	16.239	0.82222	753	0.51500	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1365.83	111	chr2	10768726	.	C	T	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.752;DP=301;ExcessHet=0;FS=3.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.755;SOR=0.409	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1376,0,1298	5	0	1	0
chr2	15940690	15940699	CACCCGGAGA	-	exonic	MYCN	.	frameshift deletion	MYCN:NM_001293231:exon1:c.104_113del:p.G37Afs*68,MYCN:NM_001293233:exon1:c.104_113del:p.G37Afs*517	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	624.79	26	chr2	15940689	.	CCACCCGGAGA	C	624.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=193;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.03;ReadPosRankSum=0.395;SOR=1.092	GT:AD:DP:GQ:PL	0/1:10,16:26:99:635,0,371	5	0	1	0
chr2	20040914	20040914	T	A	exonic	LAPTM4A	.	nonsynonymous SNV	LAPTM4A:NM_014713:exon2:c.A209T:p.Y70F	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0229390609026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	0.803	0.04029	T	0.217	0.30183	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.89	0.45636	T	0.09	0.05917	N	0.522	0.55193	-1.0544	0.13198	T	0.090	0.34683	T	10	0.27750722	0.45318	T	0.022939	0.45870	T	0.136	0.36778	0.544	0.65731	0.21174354426	0.20776	0.8556856731638316	0.85531	0.341241828603	0.36058	0.683604955673	0.64787	T	0.015465	0.12966	T	-0.0189404	0.49004	T	-0.264983	0.48326	T	0.699561178684235	0.40698	D	0.918608	0.70760	D	0.13796288	0.31925	0.078426465	0.17566	0.13796288	0.31925	0.078426465	0.17566	-4.683	0.33197	T	.	.	0.138	0.30130	B	.	.	2.971399	0.39609	21.0	0.93106503084569026	0.22737	0.63841	0.32216	D	ALL	0.950079	0.96335	D	0.0875075568991104	0.45882	2.837298	0.282191917985128	0.54500	3.614764	1.0	0.98316	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	5.99	5.99	0.97299	7.636000	0.82457	7.873000	0.72068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.235	0.65468	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	837.83	84	chr2	20040914	.	T	A	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.579;DP=258;ExcessHet=0;FS=4.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.962;SOR=0.549	GT:AD:DP:GQ:PL	0/1:46,38:84:99:848,0,1051	5	0	1	0
chr2	26455136	26455136	T	C	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon16:c.T2069C:p.V690A	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1607004	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.0127455410499	.	0.000798722	0.0005	0	8.651e-05	0	0	0	0.0011	0.0036	0.0004269	66	154602	rs199858918	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0	0	0	0.0003	3.597e-06	0.0004	0.0037	9.2e-05	9.188e-05	3.857e-05	0.0001	0.0027	5.528e-05	4.365e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.471e-05	0	0.0027	0.125	0.27310	T	0.009	0.66756	D	0.929	0.51690	P	0.58	0.50189	P	0.026714	0.25874	N	0.421507	0.999659	0.20771	N	2.31	0.66127	M	0.72	0.50976	T	-2.81	0.59389	D	0.366	0.40765	-0.8614	0.51162	T	0.175	0.51959	T	10	0.013923287	0.00294	T	0.012746	0.31594	T	0.171	0.43483	0.56	0.67958	0.473931330248	0.47021	0.431240123241945	0.43041	0.125253055564	0.14122	0.310807168484	0.12029	T	0.041613	0.25916	T	-0.455771	0.01044	T	-0.428616	0.30091	T	0.123614454757489	0.14779	T	0.684232	0.29249	T	0.21329229	0.43704	0.33200818	0.59053	0.24657609	0.47628	0.30632272	0.56656	-6.866	0.53048	T	.	.	0.356	0.56990	A	.	.	3.541427	0.49734	22.8	0.99693163245969918	0.80112	0.31045	0.24238	N	AEFGBI	0.154829	0.27992	N	0.105464623014662	0.46719	2.90788	0.0291606899581377	0.41076	2.461715	0.999999870367375	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.38	5.38	0.77279	4.559000	0.60505	6.113000	0.53689	0.665000	0.62972	0.501000	0.26963	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	14.383	0.66489	416	0.81733	Dynein regulatory complex protein 1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1687.83	120	chr2	26455136	.	T	C	1687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=306;ExcessHet=0;FS=1.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.034;SOR=0.564	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1698,0,1488	5	0	1	0
chr2	27378976	27378976	G	A	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon2:c.C104T:p.A35V,ZNF513:NM_144631:exon3:c.C290T:p.A97V	.	0	1519	3	0	0	3	0.000986518	.	.	.	193737	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0012	0.000599042	0.0018	0.0011	8.932e-05	0	0.0030	0.0019	0.0133	0.0025	0.0016494	255	154602	rs35554630	0.0018	0.0018	0.0017	0.0019	0.0025	0.0017	0.0017	0.0023	0.0021	0.0005	0.0003	0.0010	0	0.0030	0.0010	0.0019	0.0015	0.0025	0.0017	0.0017	0.0016	0.0017	0.0026	0.0015	0.0014	0.0022	0.0021	0.0008	0	0.0004	0.0020	0	0.0017	0	0.0026	0.0009	0.0025	0.773	0.08736	T	1.0	0.01155	T	0.954	0.54400	P	0.165	0.35019	B	0.000227	0.47286	D	0.000000	0.92495	0.27203	N	0.695	0.17993	N	3.35	0.54540	T	0.12	0.13611	N	0.249	0.34012	-1.0632	0.10974	T	0.067	0.27674	T	10	0.00825718	0.00187	T	.	.	.	0.072	0.21020	.	.	0.44480088601	0.44098	0.13193566789641087	0.13118	0.271006728325	0.29621	0.683616936207	0.64789	T	0.011922	0.10567	T	-0.419231	0.01730	T	-0.378651	0.35880	T	0.0214756073631817	0.00851	T	0.641436	0.27420	T	0.06235588	0.13014	0.059310336	0.11111	0.061114833	0.12617	0.059797067	0.11283	-3.76	0.24355	T	.	.	0.128	0.36811	B	.;.;.	.;.;.	2.723595	0.35633	19.95	0.97320905295614135	0.33375	0.75608	0.37028	D	AEFDBCI	0.087934	0.17828	N	-0.096154067479943	0.37560	2.187015	-0.018632513520922	0.38873	2.296604	0.999999862799367	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.48	3.59	0.40253	2.548000	0.45455	7.508000	0.59580	-0.186000	0.09761	0.945000	0.32849	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.8328:0.1672	12.606	0.55879	335	0.86220	.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	841.83	49	chr2	27378976	.	G	A	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=241;ExcessHet=0;FS=2.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.493;SOR=1.115	GT:AD:DP:GQ:PL	0/1:19,30:49:99:852,0,509	5	0	1	0
chr2	27580222	27580222	T	C	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.T3650C:p.L1217S	.	427	1088	7	0	0	7	0.0032066	.	.	.	2815633	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0043	0.00139776	0.0058	0.0013	0.0027	0.0001	0.0045	0.0078	0.0167	0.0055	0.0055627	860	154602	rs115888025	0.0060	0.0060	0.0059	0.0060	0.0068	0.0059	0.0058	0.0064	0.0062	0.0008	0.0025	0.0101	5.038e-05	0.0054	0.0035	0.0064	0.0055	0.0068	0.0050	0.0050	0.0053	0.0047	0.0067	0.0047	0.0046	0.0062	0.0060	0.0014	0.0965	0.0025	0.0121	0.0002	0.0040	0	0.0067	0.0052	0.0052	0.001	0.78490	D	0.025	0.56192	D	0.123	0.26785	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.17	0.07599	T	-1.03	0.27052	N	0.164	0.17278	-0.9641	0.38389	T	0.009	0.03315	T	9	0.003681302	0.00068	T	.	.	.	0.041	0.10877	.	.	0.0551355673512	0.04727	0.05079581017928978	0.05021	0.145586892595	0.16448	.	.	.	9.02E-4	0.00463	T	-0.623835	0.00104	T	-0.66091	0.08205	T	0.0479506074678675	0.05135	T	0.413759	0.12390	T	0.15029188	0.34221	0.23484066	0.48712	0.15029188	0.34220	0.23484066	0.48711	-2.26	0.04341	T	.	.	0.236	0.51891	B	.;.	.;.	3.187307	0.43288	21.7	0.99514822172698147	0.68858	0.49263	0.28393	N	AEFBI	0.264347	0.38171	N	-0.59766899060266	0.19015	0.9919093	-0.512336089678805	0.21817	1.182092	0.999976976046379	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.19	4.02	0.45968	3.411000	0.52425	2.682000	0.34024	0.502000	0.22824	0.907000	0.31601	0.975000	0.29991	0.133000	0.19684	0.0:0.0958:0.0:0.9042	7.866	0.28698	67	0.97183	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1531.83	110	chr2	27580222	.	T	C	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.919;DP=362;ExcessHet=0;FS=6.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.656;SOR=1.135	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1542,0,1438	5	0	1	0
chr2	27581843	27581843	C	A	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.C5271A:p.S1757R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00379393	0.0001	0.0001	0	0	0	0	0.0011	0.0008	0.0002199	34	154602	rs200432284	7.129e-05	7.184e-05	3.819e-05	0.0001	0.0011	5.992e-05	5.599e-05	0.0009	0.0009	0	2.258e-05	0	0	0	0	3.6e-06	3.325e-05	0.0011	0.0002	0.0003	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0.0005	0	6.637e-05	0	0	0	0	0	0	0.0015	0.293	0.14843	T	0.261	0.22962	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.975	0.53506	M	3.52	0.04905	T	-0.75	0.21003	N	0.05	0.02179	-0.9255	0.44786	T	0.009	0.03183	T	9	0.003379345	0.00059	T	.	.	.	0.008	0.00669	0.256	0.19689	0.0138822411134	0.00435	0.024761242624337224	0.02427	0.163342814031	0.18427	.	.	.	0.004791	0.04206	T	-0.714375	0.00030	T	-0.849368	0.00967	T	0.03624361620061	0.03023	T	0.129787	0.01020	T	0.06474366	0.13768	0.06405327	0.12782	0.06474366	0.13767	0.06405327	0.12781	-4.651	0.32806	T	.	.	0.162	0.38409	B	.;.	.;.	-1.559491	0.00261	0.004	0.41521050594297432	0.03001	0.07728	0.13729	N	AEFBCI	0.111294	0.22039	N	-1.86074485737722	0.00413	0.01774903	-1.87571754101695	0.00546	0.02422554	0.999727183108158	0.42220	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	3.75	-1.85	0.07363	-4.783000	0.00216	-20.000000	0.00162	-6.894000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4572:0.4659:0.0:0.0769	8.942	0.34898	65	0.97253	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3148.83	236	chr2	27581843	.	C	A	3148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.9;DP=425;ExcessHet=0;FS=5.215;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-0.983;QD=13.34;ReadPosRankSum=-0.021;SOR=0.559	GT:AD:DP:GQ:PL	0/1:117,119:236:99:3159,0,3104	5	0	1	0
chr2	30640550	30640550	G	C	exonic	LCLAT1	.	nonsynonymous SNV	LCLAT1:NM_001002257:exon6:c.G1062C:p.E354D,LCLAT1:NM_001304446:exon6:c.G690C:p.E230D,LCLAT1:NM_182551:exon7:c.G1176C:p.E392D,LCLAT1:NM_001304445:exon8:c.G1062C:p.E354D	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	.	0.00239617	0.0016	0	8.639e-05	0	0	0	0	0.0115	0.0013777	213	154602	rs573828049	0.0007	0.0007	0.0004	0.0011	0.0111	0.0007	0.0007	0.0106	0.0103	2.988e-05	0	0	2.519e-05	0	0.0010	3.597e-06	0.0010	0.0111	0.0004	0.0004	0.0003	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	4.812e-05	0	0	0	0.0002	0	0	0	0.0005	0.0118	0.282	0.15930	T	0.271	0.24694	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.996137	0.43035	D	2.095	0.58118	M	1.42	0.34253	T	-0.66	0.19085	N	0.674	0.69213	-1.0722	0.08936	T	0.116	0.41031	T	10	0.00910002	0.00206	T	.	.	.	0.222	0.51872	0.683	0.82078	0.404733080969	0.40085	0.7484640683276866	0.74792	0.274608653467	0.29952	0.522070407867	0.41917	T	0.104517	0.41415	T	-0.340606	0.05346	T	-0.251646	0.49654	T	0.079222617403201	0.09886	T	0.886711	0.61387	D	0.11356265	0.26820	0.10392434	0.24946	0.11356265	0.26819	0.10392434	0.24945	-6.258	0.48397	T	.	.	0.637	0.76371	P	.;.	.;.	1.601311	0.20470	14.76	0.97900695834799778	0.36738	0.93512	0.58419	D	AEFBI	0.410489	0.48134	N	-0.214725593792885	0.32528	1.835476	-0.307297233966661	0.27862	1.549126	0.0568654171828081	0.15071	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	-0.231	0.12441	1.502000	0.35312	2.412000	0.32646	-0.244000	0.07312	1.000000	0.71638	0.998000	0.33993	0.311000	0.24761	0.6027:0.0:0.3973:0.0	11.014	0.46896	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1587.83	107	chr2	30640550	.	G	C	1587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.523;SOR=0.697	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1598,0,1108	5	0	1	0
chr2	33585568	33585568	C	T	exonic	FAM98A	.	nonsynonymous SNV	FAM98A:NM_001304538:exon6:c.G265A:p.G89S,FAM98A:NM_015475:exon7:c.G850A:p.G284S	.	438	1083	1	0	0	1	0.000461467	.	.	.	2248205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0603871614955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341230632	4.788e-06	5.472e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.34095	T	0.039	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-2.2	0.49519	N	0.646	0.65758	-0.6046	0.64627	T	0.293	0.66441	T	10	0.6062636	0.67192	D	0.060387	0.67983	D	0.316	0.63799	.	.	0.21174354426	0.20776	0.5880683130342318	0.58736	0.487873399504	0.47601	0.675837039948	0.63673	T	.	.	.	-0.00519172	0.50936	T	-0.245234	0.50286	T	0.902391314506531	0.55535	D	0.974303	0.95630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.75899	P	.;.	.;.	4.601347	0.72877	25.9	0.99709583962975845	0.81213	0.99681	0.98618	D	AEFBI	0.928491	0.91279	D	0.735468011974006	0.81958	7.645274	0.726593197946371	0.84395	8.280749	0.999999999999888	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.751000	0.84010	5.938000	0.51432	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.459	0.94901	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	885.83	78	chr2	33585568	.	C	T	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=251;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.815;SOR=0.973	GT:AD:DP:GQ:PL	0/1:43,35:78:99:896,0,1030	5	0	1	0
chr2	38823126	38823126	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon17:c.C2852T:p.T951I,DHX57:NM_198963:exon17:c.C3158T:p.T1053I	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.110857330038	.	.	5.767e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs746784795	3.078e-05	3.078e-05	1.089e-05	5.088e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.967e-05	0.0005	1.314e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000050	0.53742	D	0.000000	1	0.81001	D	4.285	0.98199	H	.	.	.	.	.	.	0.98	0.99015	0.382	0.88822	D	0.515	0.81811	D	10	0.85101104	0.84280	D	0.110857	0.78841	D	.	.	0.7	0.83684	0.910316399455	0.90942	0.9247686459324647	0.92453	.	.	0.78664290905	0.79932	T	0.392903	0.75245	T	0.246617	0.78282	D	0.480635	0.94211	D	0.956182897090912	0.64693	D	0.978652	0.92496	D	0.7099721	0.78605	0.73042226	0.84071	0.7099721	0.78607	0.73042226	0.84073	-11.599	0.82843	D	.	.	0.983	0.91837	P	.	.	5.144883	0.86152	28.8	0.99921652747760026	0.98787	0.99644	0.98286	D	AEFBI	0.895510	0.83561	D	1.15522016594729	0.99032	20.35672	1.05858323045538	0.99474	23.01014	0.999999999995496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	9.864000	0.98442	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.956	0.97222	679	0.60090	Helicase-associated domain|Helicase-associated 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	1179.83	103	chr2	38823126	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=289;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.5;SOR=0.59	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1190,0,1385	5	0	1	0
chr2	43676045	43676045	T	C	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A278G:p.K93R	.	406	1113	3	0	0	3	0.0013459	.	.	.	2205167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0014	0.000599042	0.0007	0	0.0005	0	0	0.0011	0.0011	0.0002	0.0007244	112	154602	rs139124904	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0001	0.0006	0.0042	0	0	0.0026	0.0007	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0.0040	0	0	0.0068	0.0006	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.021444082	0.00513	T	.	.	.	.	.	.	.	.	.	0.4446345336837162	0.44381	.	.	0.293852090836	0.09487	T	0.05551	0.30028	T	.	.	.	.	.	.	.	.	.	0.90471	0.66491	D	0.081111036	0.18621	0.20556799	0.44732	0.081111036	0.18620	0.20556799	0.44731	-3.889	0.22137	T	.	.	0.087	0.11414	B	.	.	3.004991	0.40166	21.1	0.88668321645987846	0.18159	0.85830	0.45008	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996518426726	0.74766	0.199473	0.04044	0	0.059962	0.00310	0	0.112256	0.03162	0	0.250985	0.05351	0	0.679347	0.42376	3.14	1.99	0.25423	3.963000	0.56480	0.853000	0.22156	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.0:0.1223:0.0:0.8777	6.592	0.21847	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3923.06	132	chr2	43676045	.	T	C	3923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.55;DP=651;ExcessHet=0.4139;FS=8.678;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.613;SOR=0.389	GT:AD:DP:GQ:PL	0/1:66,66:132:99:2019,0,1921	4	0	2	0
chr2	44201572	44201572	A	T	exonic	PPM1B	.	nonsynonymous SNV	PPM1B:NM_001033557:exon2:c.A373T:p.N125Y,PPM1B:NM_002706:exon2:c.A373T:p.N125Y,PPM1B:NM_177968:exon2:c.A373T:p.N125Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0297979672873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.083	0.46406	T	0.151	0.28027	B	0.118	0.32088	B	0.000009	0.62929	D	0.173153	0.999998	0.81001	D	2.07	0.56829	M	2.98	0.09356	T	-3.25	0.68412	D	0.821	0.81658	-1.0598	0.11805	T	0.028	0.12147	T	10	0.47629517	0.60163	T	0.029798	0.52238	D	0.225	0.52323	0.454	0.51775	0.675710424487	0.67296	0.7353246148179691	0.73477	0.403245697634	0.41266	0.853764474392	0.90182	D	0.313561	0.68530	T	0.0486925	0.58175	T	-0.167833	0.57640	T	0.957767128944397	0.65094	D	0.921108	0.71398	D	0.52306813	0.68435	0.33043024	0.58912	0.52306813	0.68436	0.33043024	0.58911	-5.514	0.41999	T	.	.	0.186	0.49324	B	.;.;.;.;.	.;.;.;.;.	3.938312	0.57613	23.9	0.98608405411780686	0.43598	0.98974	0.89400	D	AEFBI	0.921354	0.89470	D	0.149238377690585	0.48777	3.085761	0.312974807004587	0.56303	3.793314	0.999999999998828	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.322000	0.95579	9.358000	0.80353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	1.0:0.0:0.0:0.0	15.989	0.79982	550	0.72197	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2689.83	196	chr2	44201572	.	A	T	2689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.456;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.694;SOR=0.69	GT:AD:DP:GQ:PL	0/1:97,99:196:99:2700,0,2614	5	0	1	0
chr2	47905587	47905601	GGCTGCTGCTGGGGC	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.120_134del:p.Q42_P46del	.	415	1100	7	0	0	7	0.00317173	.	.	.	1069739	not_provided|Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0	0	.	0	0	0	0.0062	0.0001537	4	26028	rs747252806	0.0023	0.0020	0.0023	0.0023	0.0091	0.0022	0.0022	0.0082	0.0078	0.0073	0.0044	0.0020	0.0091	0.0010	0.0027	0.0018	0.0032	0.0068	0.0042	0.0041	0.0041	0.0043	0.0100	0.0039	0.0038	0.0078	0.0070	0.0073	0.0023	0.0041	0.0021	0.0100	0.0009	0	0.0020	0.0078	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	694.79	50	chr2	47905586	.	AGGCTGCTGCTGGGGC	A	694.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.553;DP=159;ExcessHet=0;FS=1.144;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.794;SOR=1.042	GT:AD:DP:GQ:PL	0/1:31,19:50:99:705,0,1203	5	0	1	0
chr2	71134031	71134031	T	G	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon3:c.T852G:p.D284E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0029	0.00319489	0.0009	0.0088	0.0010	0	0	3.03e-05	0	0	0.0008085	125	154602	rs138051249	0.0003	0.0003	0.0003	0.0002	0.0089	0.0003	0.0002	0.0080	0.0077	0.0089	0.0008	0	0	0	0.0007	1.802e-05	0.0007	3.504e-05	0.0028	0.0028	0.0027	0.0029	0.0098	0.0026	0.0025	0.0090	0.0087	0.0098	0	0.0014	0	0	0	0	5.88e-05	0.0005	0	0.428	0.09600	T	0.782	0.08654	T	0.0	0.02946	B	0.001	0.04355	B	0.337430	0.14017	N	0.712483	1	0.08975	N	1.82	0.47800	L	2.92	0.09915	T	0.33	0.03889	N	0.214	0.24260	-0.9349	0.43409	T	0.007	0.02244	T	10	0.0058249235	0.00130	T	.	.	.	0.028	0.06331	0.386	0.40624	0.454925483252	0.45117	0.03356622172362509	0.03304	0.118506988283	0.13345	0.358766227961	0.19206	T	0.003172	0.02576	T	-0.682108	0.00047	T	-0.74547	0.03665	T	0.00506824083303858	0.00055	T	0.454955	0.13513	T	0.040278602	0.05719	0.028124236	0.01021	0.040278602	0.05719	0.028124236	0.01021	-3.501	0.16445	T	.	.	0.087	0.11269	B	.;.	.;.	0.403239	0.07744	4.426	0.77000030298701516	0.11695	0.70179	0.34484	D	AEFBCI	0.187543	0.31484	N	-0.972662492198403	0.09190	0.4339577	-0.917137613849849	0.11690	0.5970983	0.999954625428752	0.48110	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	0.383	0.15462	-0.206000	0.09400	.	.	0.366000	0.20181	0.924000	0.32081	0.000000	0.08366	0.055000	0.15596	0.3069:0.0901:0.0:0.603	4.277	0.10262	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	927.83	72	chr2	71134031	.	T	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=245;ExcessHet=0;FS=3.852;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.771;SOR=1.384	GT:AD:DP:GQ:PL	0/1:40,32:72:99:938,0,1093	5	0	1	0
chr2	71349505	71349505	G	A	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.G551A:p.R184H,ZNF638:NM_001252612:exon2:c.G551A:p.R184H,ZNF638:NM_001252613:exon2:c.G551A:p.R184H,ZNF638:NM_014497:exon2:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00600535546193	7.7e-05	.	8.266e-06	9.679e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs374546224	4.241e-05	4.241e-05	4.628e-05	3.85e-05	5.126e-05	3.376e-05	3.065e-05	4.005e-05	3.657e-05	0	0	0	0	0	0	5.126e-05	4.967e-05	2.319e-05	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0002	2.111e-05	1.528e-05	7.902e-05	5.594e-05	0.0002	0	0	0	0	0	0	0	0	0	0.207	0.36113	T	0.225	0.34359	T	1.0	0.90584	D	0.991	0.79672	D	0.000098	0.51296	D	0.140156	0.99551	0.42726	D	0.255	0.09829	N	0.7	0.51474	T	-1.8	0.42384	N	0.088	0.06587	-0.1935	0.77839	T	0.448	0.78318	T	10	0.2151925	0.38064	T	0.006005	0.15668	T	0.156	0.40720	.	.	0.262679179196	0.25893	0.4527782690211794	0.45195	0.269591816895	0.29478	0.467658758163	0.34359	T	0.029096	0.20925	T	-0.206399	0.19890	T	-0.352108	0.38963	T	0.800260543823242	0.46370	D	0.923508	0.72088	D	0.060519073	0.12427	0.060725212	0.11612	0.060519073	0.12426	0.060725212	0.11611	-6.541	0.54099	T	.	.	0.102	0.21277	B	.;.;.;.	.;.;.;.	3.730218	0.53359	23.4	0.99930949773157673	0.99387	0.72642	0.35549	D	AEFBCI	0.254599	0.37388	N	0.550103359785869	0.70088	5.450473	0.592900250181527	0.74429	6.135661	0.999972791060256	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	2.603000	0.45930	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.639	0.88034	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1760.83	149	chr2	71349505	.	G	A	1760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.47;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.973;SOR=0.695	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1771,0,1908	5	0	1	0
chr2	71349897	71349897	A	G	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.A943G:p.I315V,ZNF638:NM_001252612:exon2:c.A943G:p.I315V,ZNF638:NM_001252613:exon2:c.A943G:p.I315V,ZNF638:NM_014497:exon2:c.A943G:p.I315V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0026	0.00279553	0.0007	0.0084	8.639e-05	0	0	1.498e-05	0	0	0.000718	111	154602	rs139900748	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0005	1.799e-06	0.0005	3.478e-05	0.0024	0.0024	0.0025	0.0023	0.0085	0.0022	0.0021	0.0078	0.0075	0.0085	0	0.0006	0	0	0	0	4.409e-05	0	0	0.042	0.41637	D	0.77	0.08565	T	0.913	0.50474	P	0.891	0.63213	P	0.001734	0.38161	N	0.268519	0.907318	0.27580	N	2.14	0.59869	M	1.45	0.32482	T	-0.13	0.08971	N	0.051	0.11483	-0.8259	0.53563	T	0.215	0.57639	T	10	0.0032099485	0.00054	T	.	.	.	0.127	0.34888	.	.	0.0934897674506	0.08844	0.16050830595812343	0.15971	0.0356174116242	0.03758	0.429155886173	0.29093	T	0.017843	0.14486	T	-0.520529	0.00437	T	-0.514789	0.20825	T	0.0379932604026802	0.03331	T	0.718928	0.33194	T	0.034464534	0.03873	0.039099228	0.03927	0.034464534	0.03873	0.039099228	0.03926	-2.276	0.04677	T	.	.	0.063	0.03479	B	.;.;.	.;.;.	1.268889	0.16672	12.69	0.99491214306180642	0.67460	0.15056	0.18722	N	AEFBI	0.056865	0.10547	N	-0.112364878220428	0.36853	2.135942	-0.13967158542672	0.33807	1.937856	0.951932580391026	0.27986	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	3.41	0.38145	0.399000	0.20641	.	.	0.756000	0.94297	0.086000	0.22486	0.845000	0.27336	0.539000	0.29915	0.735:0.1769:0.0881:0.0	5.403	0.15605	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	.	.	.	.	.	.	.	.	0.08333	2379.83	193	chr2	71349897	.	A	G	2379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.784;DP=386;ExcessHet=0;FS=7.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.283;SOR=0.369	GT:AD:DP:GQ:PL	0/1:95,98:193:99:2390,0,2537	5	0	1	0
chr2	71564154	71564154	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon23:c.C2410T:p.R804W,DYSF:NM_001130977:exon23:c.C2410T:p.R804W,DYSF:NM_001130984:exon23:c.C2413T:p.R805W,DYSF:NM_001130986:exon23:c.C2413T:p.R805W,DYSF:NM_001130455:exon24:c.C2455T:p.R819W,DYSF:NM_001130978:exon24:c.C2452T:p.R818W,DYSF:NM_001130980:exon24:c.C2503T:p.R835W,DYSF:NM_001130981:exon24:c.C2503T:p.R835W,DYSF:NM_001130983:exon24:c.C2455T:p.R819W,DYSF:NM_001130985:exon24:c.C2506T:p.R836W,DYSF:NM_001130987:exon24:c.C2506T:p.R836W,DYSF:NM_003494:exon24:c.C2452T:p.R818W,DYSF:NM_001130979:exon25:c.C2545T:p.R849W,DYSF:NM_001130982:exon25:c.C2548T:p.R850W	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	558257	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.536	0.167378816963	.	.	0.0002	0	0	0	0	4.495e-05	0	0.0012	0.0001488	23	154602	rs749002214	0.0001	0.0001	8.031e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	2.987e-05	0	0	0	0	0.0002	2.608e-05	0.0003	0.0018	6.569e-05	6.566e-05	6.422e-05	6.723e-05	0.0012	3.516e-05	2.615e-05	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	4.409e-05	0	0.0012	0.019	0.59928	D	0.021	0.58089	D	0.994	0.90584	D	0.764	0.66722	P	0.000049	0.53742	D	0.000000	0.849286	0.35195	D	2.125	0.59049	M	-0.52	0.70717	T	-2.99	0.63901	D	0.648	0.72209	-0.1015	0.80064	T	0.398	0.75045	T	10	0.38280788	0.54320	T	0.167379	0.84576	D	0.536	0.80545	0.581	0.70733	0.798345608628	0.79646	0.640884457908599	0.64023	0.637325117168	0.57480	0.427721142769	0.28897	T	0.69553	0.91186	D	-0.22069	0.17900	T	-0.108797	0.62707	T	0.201194196939468	0.20481	T	0.960404	0.85218	D	0.6509105	0.75413	0.37039867	0.62290	0.7278608	0.79604	0.4918673	0.70607	-8.301	0.64865	D	0.5347221036761354	0.60514	0.156	0.44240	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.151239	0.62272	24.4	0.99917904797258528	0.98518	0.56423	0.30113	D	AEFDBIJ	0.552763	0.56429	D	0.148589235418652	0.48745	3.083053	0.0726120494585545	0.43176	2.624898	0.999944340638594	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.29	0.774	0.17665	0.187000	0.16806	.	.	0.599000	0.40250	0.717000	0.28791	1.000000	0.68203	0.993000	0.69303	0.6306:0.3694:0.0:0.0	12.690	0.56337	476	0.77720	.;.;.;.;Ferlin B-domain|Ferlin B-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	974.83	100	chr2	71564154	.	C	T	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.821;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,42:100:99:985,0,1379	5	0	1	0
chr2	73453279	73453279	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.A6752G:p.D2251G,ALMS1:NM_015120:exon8:c.A6752G:p.D2251G	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	239000	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|not_provided|Monogenic_diabetes	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0052	0.00379393	0.0015	0.0170	0.0006	0	0	6.031e-05	0.0011	0	0.0013907	215	154602	rs28730855	0.0005	0.0005	0.0005	0.0004	0.0162	0.0005	0.0004	0.0151	0.0146	0.0162	0.0009	0	0	0	0.0003	5.396e-05	0.0010	0	0.0047	0.0047	0.0051	0.0042	0.0160	0.0044	0.0043	0.0149	0.0145	0.0160	0	0.0018	0	0	0	0.0034	8.821e-05	0.0057	0	.	.	.	0.295	0.20745	T	.	.	.	.	.	.	0.233199	0.15873	N	0.569323	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.089	0.06854	-1.0266	0.21560	T	0.013	0.05033	T	10	0.00216496	0.00031	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.22604240051935529	0.22519	.	.	0.277617067099	0.07163	T	0.034005	0.23149	T	-0.479262	0.00747	T	-0.447577	0.27964	T	0.00352696834730597	0.00037	T	0.669433	0.27806	T	0.050562628	0.09154	0.06608067	0.13486	0.04059409	0.05823	0.071345836	0.15267	-3.899	0.22287	T	0.14967007702463647	0.17519	0.106	0.19679	B	.;.;.	.;.;.	1.052680	0.14339	10.92	0.95688808925789703	0.27562	0.01878	0.05780	N	AEFBI	0.023047	0.01233	N	-0.904846340366228	0.10727	0.5140811	-0.955407680041731	0.10797	0.5461813	0.899764784329106	0.26059	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.82	-3.55	0.04343	0.057000	0.14157	2.511000	0.33074	0.756000	0.94297	0.000000	0.06391	0.034000	0.21380	0.983000	0.59808	0.3812:0.1436:0.4752:0.0	7.578	0.27117	494	0.76445	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1720.83	133	chr2	73453279	.	A	G	1720.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=541;ExcessHet=0;FS=0.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.509;SOR=0.79	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1731,0,1800	5	0	1	0
chr2	73767161	73767161	A	T	exonic	DUSP11	.	nonsynonymous SNV	DUSP11:NM_003584:exon6:c.T682A:p.L228I	.	.	.	.	.	.	.	.	0.1326	0.468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0115955816733	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1180055283	6.86e-07	6.841e-07	0	1.379e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.156	0.24090	T	0.159	0.31527	T	.	.	.	.	.	.	0.152827	0.17910	N	0.559303	0.949606	0.37659	D	.	.	.	-2.02	0.85542	D	-0.94	0.25118	N	0.384	0.42541	-0.4894	0.69030	T	0.401	0.75195	T	9	0.295076	0.47077	T	0.011596	0.29387	T	0.247	0.55478	.	.	0.792038911148	0.79011	0.3651882240138583	0.36432	0.383846054443	0.39699	0.678139686584	0.64002	T	.	.	.	0.000915087	0.51780	T	-0.236462	0.51143	T	0.571289479732513	0.35284	D	0.723828	0.33737	T	0.28087422	0.51133	0.11297718	0.27263	0.28087422	0.51133	0.11297718	0.27263	-7.533	0.57842	D	.	.	0.127	0.27039	B	.	.	3.528763	0.49502	22.8	0.98175391986718796	0.38899	0.75379	0.36904	D	AEFGBHI	0.117582	0.23028	N	-0.0338888540790492	0.40324	2.392829	0.100212040328703	0.44560	2.735407	0.147637198756937	0.17386	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	0.364000	0.20053	4.224000	0.42611	0.731000	0.85647	0.994000	0.38300	1.000000	0.68203	1.000000	0.97212	0.8174:0.0:0.0:0.1826	7.952	0.29180	395	0.83006	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	657.83	61	chr2	73767161	.	A	T	657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.311;SOR=0.794	GT:AD:DP:GQ:PL	0/1:33,28:61:99:668,0,728	5	0	1	0
chr2	84699621	84699621	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon48:c.C7705T:p.R2569C	.	.	.	.	.	.	.	.	.	.	.	2772013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.474	0.294305621353	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428887330	1.287e-05	1.3e-05	1.834e-05	7.25e-06	2.821e-05	8.04e-06	6.64e-06	8.78e-06	7.11e-06	0	2.821e-05	0	0	2.027e-05	0	1.483e-05	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.055	0.86842	M	0.39	0.57419	T	-7.51	0.95074	D	0.739	0.73916	-0.0033	0.82188	T	0.431	0.77251	T	9	0.8739064	0.86670	D	0.294306	0.90670	D	0.474	0.76685	0.671	0.80903	0.661710244528	0.65887	0.7677745702590328	0.76726	0.527592878599	0.50365	0.686414718628	0.65190	T	0.150629	0.49020	T	0.20723	0.74570	D	0.0598947	0.74238	D	0.998754143714905	0.95068	D	0.956704	0.83523	D	0.61262167	0.73368	0.5273359	0.72691	0.61262167	0.73369	0.5273359	0.72691	-10.052	0.74223	D	.	.	0.727	0.74089	P	.;.	.;.	5.065317	0.84448	28.3	0.99928633002027634	0.99222	0.93262	0.57749	D	AEFI	0.634606	0.61442	D	0.803191964448434	0.86304	8.842872	0.740237782556274	0.85425	8.576995	0.999750297400265	0.42595	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	3.928000	0.56220	4.915000	0.45989	-0.175000	0.10903	0.998000	0.41325	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.908	0.88840	599	0.68140	Dynein heavy chain, AAA module D4|AAA+ ATPase domain;Dynein heavy chain, AAA module D4|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.08333	677.83	59	chr2	84699621	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=231;ExcessHet=0;FS=0.982;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-1.619;SOR=0.559	GT:AD:DP:GQ:PL	0/1:33,26:59:99:688,0,791	5	0	1	0
chr2	84722706	84722706	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon60:c.C9874T:p.R3292C	.	423	1092	7	0	0	7	0.00319489	.	.	.	432463	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.28382971536	.	.	0.0004	0	0	0	0	0.0002	0	0.0009	0.0001164	18	154602	rs770893158	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0005	0	0	0	0	4.06e-05	0.0012	0.0002	0.0004	0.0007	9.2e-05	9.194e-05	0.0001	6.725e-05	0.0004	5.528e-05	4.365e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.953	0.69275	D	0.001543	0.38671	N	0.160398	0.999993	0.58761	D	3.51	0.92865	H	0.52	0.55266	T	-6.53	0.91741	D	0.681	0.68777	0.009	0.82429	D	0.428	0.77094	T	10	0.65926766	0.70057	D	0.28383	0.90326	D	0.362	0.68230	.	.	0.627816896369	0.62478	0.6768566308343432	0.67624	0.517718159117	0.49631	0.583673417568	0.50603	T	0.288237	0.66102	T	-0.131268	0.31292	T	-0.0431174	0.67491	D	0.516423650269936	0.33233	D	0.973403	0.90433	D	0.38980687	0.60018	0.31246132	0.57248	0.38980687	0.60018	0.31246132	0.57247	-9.913	0.73389	D	.	.	0.476	0.63452	A	.;.	.;.	4.735529	0.76313	26.5	0.99888357427625118	0.96281	0.79798	0.39614	D	AEFI	0.434664	0.49562	N	0.539616074054712	0.69453	5.358932	0.399807077332965	0.61554	4.35702	9.28916993236469E-4	0.08013	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	4.82	0.61641	1.283000	0.32843	5.798000	0.49917	0.581000	0.30040	0.833000	0.30177	1.000000	0.68203	0.980000	0.58198	0.3239:0.6761:0.0:0.0	11.574	0.50109	624	0.65661	.;.	.	.	.	.	.	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	0.000978	0.000000	0.000000	0.000000	0.000000	0.000000	0.005155	0.000000	0.08333	747.83	60	chr2	84722706	.	C	T	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.79;DP=239;ExcessHet=0;FS=0.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.642;SOR=0.532	GT:AD:DP:GQ:PL	0/1:26,34:60:99:758,0,615	5	0	1	0
chr2	85695329	85695329	T	C	exonic	GNLY	.	nonsynonymous SNV	GNLY:NM_006433:exon2:c.T62C:p.F21S,GNLY:NM_001302758:exon3:c.T143C:p.F48S,GNLY:NM_012483:exon3:c.T17C:p.F6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.00386999336191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.55759	D	0.981	0.59675	D	0.533	0.48638	P	0.125553	0.18838	U	0.365534	0.999986	0.19238	N	1.7	0.43825	L	0.39	0.57419	T	-3.57	0.70793	D	0.469	0.60664	-1.0035	0.28903	T	0.115	0.40831	T	10	0.53709155	0.63509	D	0.00387	0.09086	T	0.253	0.56294	0.608	0.74063	0.693035171246	0.69039	0.711471985047521	0.71089	0.0426429251693	0.04603	0.533835291862	0.43576	T	0.095512	0.39637	T	0.034932	0.56378	T	-0.187599	0.55814	T	0.71812915802002	0.41605	D	0.356864	0.08118	T	0.21446832	0.43854	0.23033229	0.48132	0.21446832	0.43854	0.23033229	0.48131	-1.005	0.03436	T	.	.	0.231	0.56838	B	.;.;.	.;.;.	1.240366	0.16358	12.49	0.98854921760611514	0.47356	0.15029	0.18709	N	AEFDGBI	0.114383	0.22532	N	-0.226392818670713	0.32053	1.80369	-0.344957819211083	0.26665	1.474347	0.999847847315537	0.43971	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.64	1.64	0.22949	1.489000	0.35170	0.159000	0.15383	0.480000	0.22105	0.149000	0.23640	0.002000	0.18203	0.010000	0.09038	0.0:0.0:0.0:1.0	5.414	0.15662	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	.	.	.	.	.	.	.	.	0.08333	992.83	52	chr2	85695329	.	T	C	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=227;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.08;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,26:52:99:0|1:85695329_T_C:1003,0,1013:85695329	5	0	1	0
chr2	85695330	85695330	C	G	exonic	GNLY	.	nonsynonymous SNV	GNLY:NM_006433:exon2:c.C63G:p.F21L,GNLY:NM_001302758:exon3:c.C144G:p.F48L,GNLY:NM_012483:exon3:c.C18G:p.F6L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00314241665771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.138	0.33780	T	0.788	0.44546	P	0.11	0.31460	B	0.125553	0.18838	U	0.365534	0.999998	0.08975	N	1.7	0.43825	L	0.53	0.55090	T	-2.83	0.59710	D	0.321	0.38027	-1.0139	0.25688	T	0.071	0.28773	T	10	0.17275548	0.32065	T	0.003142	0.06845	T	0.060	0.17295	0.493	0.58048	0.470648230714	0.46691	0.42798236470309803	0.42715	0.0211775165333	0.02094	0.554618418217	0.46508	T	0.04725	0.27667	T	-0.129324	0.31606	T	-0.423542	0.30670	T	0.171746110409597	0.18698	T	0.331767	0.06954	T	0.108832285	0.25731	0.089580216	0.20955	0.108832285	0.25730	0.089580216	0.20954	-1.476	0.04859	T	.	.	0.681	0.76474	P	.;.;.	.;.;.	0.467381	0.08370	5.123	0.97771147671713432	0.35869	0.03407	0.08526	N	AEFDGBI	0.102297	0.20524	N	-0.604341352098056	0.18812	0.9797433	-0.701203514883203	0.16931	0.8979489	0.999574215009926	0.40495	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.64	0.36	0.15332	0.024000	0.13447	0.122000	0.14930	0.434000	0.20985	0.112000	0.23030	0.004000	0.18990	0.011000	0.09372	0.0:0.3861:0.0:0.6139	3.053	0.05804	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	.	.	.	.	.	.	.	.	0.08333	992.83	52	chr2	85695330	.	C	G	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.021;DP=227;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.19;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,26:52:99:0|1:85695329_T_C:1003,0,1013:85695329	5	0	1	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	196.02	224	chr2	94876599	.	C	T	196.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.786;DP=1036;ExcessHet=1.383;FS=11.144;MLEAC=3;MLEAF=0.25;MQ=57.94;MQRankSum=-14;QD=0.26;ReadPosRankSum=-1.332;SOR=1.929	GT:AD:DP:GQ:PL	0/1:206,16:224:31:31,0,8846	3	0	3	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	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,26:272:99:0|1:94876595_A_G:351,0,10251:94876595	0	0	6	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	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,34:298:99:0|1:94876595_A_G:593,0,10885:94876595	0	0	6	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	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,37:352:99:0|1:94876670_C_T:605,0,13029:94876670	0	0	6	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	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:301,51:352:99:.:.:1236,0,12294:.	0	0	6	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	0.3333	4172.96	338	chr2	94876731	.	C	T	4172.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.14;DP=1716;ExcessHet=3.1439;FS=6.452;MLEAC=4;MLEAF=0.333;MQ=57.61;MQRankSum=-18.2;QD=3.01;ReadPosRankSum=0.057;SOR=1.338	GT:AD:DP:GQ:PL	0/1:300,38:338:99:413,0,7864	2	0	4	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	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:137,39:176:99:805,0,3655	0	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	669.03	194	chr2	95855406	.	C	G	669.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.36;DP=1088;ExcessHet=1.383;FS=9.024;MLEAC=3;MLEAF=0.25;MQ=54.13;MQRankSum=-6.884;QD=1.17;ReadPosRankSum=-2.638;SOR=1.47	GT:AD:DP:GQ:PL	0/1:171,23:194:99:185,0,5049	3	0	3	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	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:155,96:251:99:2139,0,4133	0	0	6	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	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:155,62:217:99:1585,0,4357	0	0	6	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	.	.	.	.	.	.	.	.	0.4167	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:186,23:209:99:147,0,7436	1	0	5	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	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:158,50:208:99:1194,0,4461	0	0	6	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	.	.	.	.	.	.	.	.	0.3333	3009.96	69	chr2	95859895	.	T	C	3009.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.169;DP=479;ExcessHet=3.1439;FS=13.078;MLEAC=4;MLEAF=0.333;MQ=57.21;MQRankSum=-0.682;QD=9.84;ReadPosRankSum=-0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/1:46,23:69:99:808,0,1842	2	0	4	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	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,32:109:99:0|1:95859969_A_AT:1092,0,3041:95859969	0	0	6	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	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,32:109:99:0|1:95859969_A_AT:1092,0,3041:95859969	0	0	6	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	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,31:108:99:0|1:95859969_A_AT:1070,0,3073:95859969	0	0	6	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	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:74,30:104:99:974,0,1836	0	0	6	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	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,25:98:99:0|1:95860002_T_A:830,0,2964:95860002	0	0	6	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	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,25:97:99:0|1:95860002_T_A:833,0,2928:95860002	0	0	6	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	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,22:84:99:0|1:95860020_G_A:737,0,2523:95860020	0	0	6	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	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,22:83:99:0|1:95860020_G_A:740,0,2488:95860020	0	0	6	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	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,16:67:99:.:.:519,0,1462:.	0	0	6	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	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:95927222_G_GAT:506,0,3418:95927222	0	0	6	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	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,21:108:99:0|1:95927222_G_GAT:620,0,3577:95927222	0	0	6	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	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,27:116:99:0|1:95927222_G_GAT:866,0,3656:95927222	0	0	6	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	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,46:149:99:0|1:95927222_G_GAT:1621,0,4186:95927222	0	0	6	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	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,60:176:99:0|1:95927222_G_GAT:2170,0,4665:95927222	0	0	6	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	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,63:184:99:0|1:95927222_G_GAT:2206,0,4787:95927222	0	0	6	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	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,33:110:99:0|1:95929092_T_C:1079,0,3111:95929092	0	0	6	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	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,36:124:99:0|1:95929092_T_C:1247,0,3587:95929092	0	0	6	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	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,49:150:99:0|1:95929092_T_C:1753,0,4093:95929092	0	0	6	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	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,55:155:99:0|1:95929092_T_C:2008,0,4033:95929092	0	0	6	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	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,57:159:99:0|1:95929092_T_C:2066,0,4091:95929092	0	0	6	0
chr2	96115641	96115641	G	A	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.C509T:p.A170V	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00866196103579	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001811	28	154602	rs564024418	7.663e-05	7.661e-05	3.676e-05	0.0001	0.0011	6.492e-05	6.071e-05	0.0010	0.0009	0	0	3.827e-05	0	0	0.0002	8.994e-07	0.0002	0.0011	3.938e-05	3.936e-05	3.853e-05	4.026e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.599	0.07972	T	0.032	0.20242	B	0.069	0.27757	B	.	.	.	.	0.864532	0.35448	D	2.165	0.60562	M	.	.	.	.	.	.	0.33	0.37093	-0.3621	0.73201	T	0.326	0.69401	T	9	0.03198403	0.01341	T	0.008662	0.22878	T	.	.	0.34	0.33141	0.571693661435	0.56835	0.6216975647825954	0.62102	.	.	0.440917372704	0.30702	T	0.191899	0.54689	T	-0.35496	0.04424	T	-0.312731	0.43365	T	0.083543016442049	0.10434	T	0.79582	0.43907	T	0.19779383	0.41658	0.26980498	0.52865	0.19779383	0.41658	0.26980498	0.52864	-7.254	0.55868	T	.	.	0.128	0.27252	B	.	.	3.179621	0.43155	21.7	0.99893215561834503	0.96666	0.93740	0.59056	D	AEFDGBI	0.784504	0.71517	D	0.0263921881927773	0.43058	2.606237	0.151096067095073	0.47200	2.953851	0.999999955092227	0.74766	0.635344	0.42169	0	0.547309	0.14657	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	4.92	4.92	0.64147	1.750000	0.37956	8.650000	0.77929	-0.108000	0.15293	0.646000	0.28137	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	15.718	0.77447	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2480.83	177	chr2	96115641	.	G	A	2480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.268;DP=380;ExcessHet=0;FS=2.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.25;SOR=0.525	GT:AD:DP:GQ:PL	0/1:81,96:177:99:2491,0,2195	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,11:93:99:0|1:97185336_GC_G:215,0,3410:97185336	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,11:96:99:0|1:97185336_GC_G:206,0,3536:97185336	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,11:96:99:0|1:97185336_GC_G:206,0,3536:97185336	1	0	5	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	696.25	102	chr2	97185345	.	GTAAT	G	696.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=635;ExcessHet=3.1439;FS=0.93;MLEAC=4;MLEAF=0.333;MQ=46.41;MQRankSum=-3.55;QD=1.71;ReadPosRankSum=2.06;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,11:102:99:0|1:97185336_GC_G:188,0,3788:97185336	2	0	4	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,47:118:99:0|1:97513219_T_C:1760,0,2840:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,49:125:99:0|1:97513219_T_C:1829,0,3044:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,60:148:99:0|1:97513244_G_T:2255,0,3359:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,65:154:99:0|1:97513244_G_T:2435,0,3461:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,65:151:99:0|1:97513244_G_T:2444,0,3396:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,70:157:99:0|1:97513268_C_T:2677,0,3442:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,70:157:99:0|1:97513268_C_T:2677,0,3442:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,70:157:99:0|1:97513268_C_T:2677,0,3442:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,77:162:99:0|1:97513268_C_T:2850,0,3317:97513268	0	0	6	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	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:58,40:98:99:923,0,1403	0	0	6	0
chr2	97532378	97532378	T	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon35:c.A2198C:p.Q733P	.	851	661	4	6	0	16	0.0119581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0063	0	0.0033	0	0	0.0104	0.0263	0.0061	0.000194	30	154602	rs200165552	0.0039	0.0032	0.0036	0.0041	0.0432	0.0037	0.0037	0.0366	0.0341	0.0021	0.0028	0.0183	0	0	0.0432	0.0033	0.0078	0.0046	0.0034	0.0034	0.0034	0.0035	0.0048	0.0031	0.0030	0.0042	0.0040	0.0007	0	0.0044	0.0197	0	0	0.0211	0.0048	0.0076	0.0041	.	.	.	0.029	0.54541	D	0.797	0.44809	P	0.064	0.27215	B	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.047	0.07398	.	.	.	.	.	.	.	0.0049084425	0.00105	T	.	.	.	.	.	.	.	0.29132392195	0.28731	0.01527620853014781	0.01483	.	.	0.608801245689	0.54146	T	0.005835	0.05277	T	-0.0895418	0.38151	T	-0.366397	0.37311	T	.	.	.	0.522848	0.17479	T	0.12447194	0.29203	0.23109838	0.48231	0.12447194	0.29203	0.23109838	0.48230	-3.71	0.19466	T	.	.	0.135	0.32661	B	.;.;.	.;.;.	0.951506	0.13275	9.778	0.68154009143421568	0.08571	0.00176	0.01036	N	AEFI	.	.	.	.	.	.	.	.	.	7.73258317692177E-6	0.01202	0.262962	0.04601	0	0.195528	0.04277	0	0.183335	0.04453	0	0.330827	0.05736	0	0.081692	0.18706	1.39	-2.79	0.05494	0.141000	0.15897	-0.146000	0.11468	0.297000	0.18867	0.358000	0.25825	0.000000	0.08366	0.234000	0.22842	0.2819:0.0:0.4823:0.2358	2.990	0.05617	270	0.89404	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045627	0.056818	0.045662	0.113636	0.000000	0.088235	0.000000	0.010870	0.08333	444.85	25	chr2	97532378	.	T	G	444.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.772;DP=91;ExcessHet=0;FS=1.721;MLEAC=1;MLEAF=0.083;MQ=40.78;MQRankSum=0.153;QD=17.79;ReadPosRankSum=-2.506;SOR=0.518	GT:AD:DP:GQ:PL	0/1:8,17:25:99:455,0,243	5	0	1	0
chr2	99361485	99361485	A	T	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon4:c.A584T:p.Q195L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0213465705363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.337	0.18232	T	0.063	0.23376	B	0.027	0.21085	B	.	.	.	.	0.999862	0.50061	D	1.905	0.50856	L	0.9	0.45248	T	-1.66	0.39692	N	0.227	0.25499	-1.0111	0.26573	T	0.123	0.42505	T	8	0.122159004	0.23169	T	0.021347	0.44105	T	0.167	0.42761	0.194	0.10571	0.472160230155	0.46843	0.16434783561890734	0.16354	0.149721660382	0.16881	0.382388174534	0.22596	T	0.148333	0.48684	T	-0.073273	0.40801	T	-0.343028	0.40000	T	0.26170152425766	0.23389	T	0.828317	0.49240	T	0.11538724	0.27228	0.15628105	0.36596	0.11538724	0.27228	0.15628105	0.36595	-4.199	0.26737	T	.	.	0.078	0.13456	B	.;.	.;.	2.367095	0.30367	18.42	0.98558228895525657	0.42935	0.79638	0.39502	D	AEFGBI	0.258439	0.37697	N	-0.25954913568466	0.30724	1.715836	-0.121505119406984	0.34523	1.986879	0.996848667211125	0.35056	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.92	4.76	0.60189	1.852000	0.38988	4.540000	0.43760	-0.056000	0.16711	0.990000	0.36992	1.000000	0.68203	0.956000	0.50813	0.869:0.131:0.0:0.0	13.432	0.60514	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	43	chr2	99361485	.	A	T	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.681;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-1.648;SOR=0.76	GT:AD:DP:GQ:PL	0/1:14,29:43:99:663,0,349	5	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	3439.8	135	chr2	108259015	.	G	*	3439.8	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.037;DP=785;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.243;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,135:135:99:.:.:6076,410,0:.	2	3	1	0
chr2	109614510	109614527	GGGCCCCGAGGCGGCGCT	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.21_38del:p.A12_A17del	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs781518026	0.0001	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0017	0.0015	0.0002	0.0001	0	0.0002	0	0.0003	9.15e-05	9.031e-05	0.0021	0.0001	0.0001	0.0002	0.0001	0.0010	9.774e-05	8.284e-05	0.0004	0.0003	0.0003	0	0	0	0.0004	0	0	4.422e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	382.82	19	chr2	109614509	.	GGGGCCCCGAGGCGGCGCT	G	382.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.187;DP=74;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=-0.933;SOR=0.818	GT:AD:DP:GQ:PL	0/1:9,10:19:99:393,0,348	5	0	1	0
chr2	111864822	111864822	C	T	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon8:c.G815A:p.R272Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0124079438189	.	.	8.732e-05	0	0.0007	0	0	0	0	0.0001	3.84e-05	1	26028	rs780619350	1.165e-05	1.573e-05	9.546e-06	1.377e-05	0.0002	7.1e-06	5.8e-06	0.0001	7.819e-05	2.995e-05	0.0002	0	2.521e-05	0	0.0002	8.996e-07	1.662e-05	3.482e-05	6.59e-06	6.57e-06	0	1.35e-05	6.575e-05	0	0	.	.	0	0	6.575e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.968	0.71741	D	0.000768	0.41888	U	0.000000	0.999993	0.58761	D	2.32	0.66415	M	.	.	.	-2.98	0.62008	D	0.761	0.75927	-0.1961	0.77772	T	0.428	0.77062	T	9	0.73045295	0.74262	D	0.012408	0.30958	T	0.263	0.57612	0.634	0.77032	0.285698343383	0.28168	0.7117173711106226	0.71113	.	.	0.430114626884	0.29224	T	0.109578	0.42356	T	0.121977	0.66571	D	0.21687	0.84015	D	0.690933346748352	0.40291	D	0.959404	0.84692	D	0.63969684	0.74815	0.37077618	0.62320	0.63969684	0.74816	0.37077618	0.62320	-4.617	0.32385	T	.	.	0.724	0.73938	P	.	.	5.012342	0.83247	28.0	0.99948165374108255	0.99923	0.97902	0.77993	D	AEFI	0.774908	0.70848	D	0.757916281664894	0.83422	8.012779	0.730924365691458	0.84726	8.373246	0.999736175585824	0.42341	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	6.379000	0.73086	4.849000	0.45357	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.601	0.91203	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	939.83	72	chr2	111864822	.	C	T	939.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=43.79;MQRankSum=-0.389;QD=13.05;ReadPosRankSum=0.486;SOR=0.769	GT:AD:DP:GQ:PL	0/1:33,39:72:99:950,0,714	5	0	1	0
chr2	120955394	120955394	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon4:c.G232A:p.A78T,GLI2:NM_001371271:exon5:c.G607A:p.A203T,GLI2:NM_001374353:exon5:c.G607A:p.A203T,GLI2:NM_005270:exon5:c.G607A:p.A203T	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	266537	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_provided|Inborn_genetic_diseases|GLI2-related_disorder	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0170093411846	0.0013	0.000399361	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0004	0.0006468	100	154602	rs147044066	0.0012	0.0012	0.0012	0.0012	0.0015	0.0011	0.0011	0.0014	0.0014	0.0003	0.0005	0	2.523e-05	0.0002	0.0003	0.0015	0.0012	0.0001	0.0008	0.0008	0.0008	0.0009	0.0015	0.0007	0.0007	0.0012	0.0011	0.0003	0	0.0009	0	0	9.432e-05	0	0.0015	0.0005	0.0004	0.426	0.09658	T	0.14	0.33554	T	0.004	0.12183	B	0.003	0.08700	B	0.191183	0.16842	N	0.622381	1	0.19694	N	0.05	0.08135	N	-0.27	0.67367	T	-1.55	0.37566	N	0.182	0.19728	-1.0203	0.23616	T	0.109	0.39344	T	10	0.009380072	0.00212	T	0.017009	0.38529	T	0.074	0.21613	.	.	0.448695639987	0.44491	0.4597340873837687	0.45891	0.317064055996	0.33956	0.285422563553	0.08260	T	0.381759	0.74400	T	-0.493352	0.00623	T	-0.51682	0.20618	T	0.00474816837533812	0.00051	T	0.686231	0.29475	T	0.035909805	0.04316	0.06290863	0.12382	0.036372304	0.04462	0.06325516	0.12503	-4.033	0.24296	T	.	.	0.066	0.02065	B	.;.	.;.	0.364820	0.07376	3.995	0.94436019677811123	0.24855	0.12982	0.17595	N	AEFDBCI	0.124018	0.23989	N	-1.41020274204792	0.02548	0.112675	-1.35902464139531	0.03700	0.1731625	0.999601793314814	0.40866	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.73	-0.309	0.12135	0.733000	0.25754	.	.	-0.681000	0.04224	0.027000	0.20232	0.000000	0.08366	0.091000	0.17840	0.6091:0.0:0.3909:0.0	10.253	0.42557	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1991.83	143	chr2	120955394	.	G	A	1991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.945;DP=503;ExcessHet=0;FS=5.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.275;SOR=0.384	GT:AD:DP:GQ:PL	0/1:62,81:143:99:2002,0,1528	5	0	1	0
chr2	130463126	130463126	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2918A:p.G973D,POTEI:NM_001371926:exon17:c.G2984A:p.G995D	.	17	1462	43	0	0	43	0.0144928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	.	0.00599042	0.0862	0	0.25	.	.	0.2	.	0.5	0.0005304	82	154602	rs199773105	0.0061	0.0069	0.0059	0.0063	0.0137	0.0060	0.0059	0.0109	0.0100	0.0009	0.0043	0.0036	0.0002	0.0011	0.0137	0.0065	0.0055	0.0104	0.0055	0.0039	0.0059	0.0049	0.0149	0.0050	0.0048	0.0098	0.0081	0.0007	0.0294	0.0060	0.0051	0.0005	0.0017	0.0105	0.0082	0.0079	0.0149	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.841103	0.28629	N	4.35	0.98464	H	-4.35	0.97292	D	-5.12	0.83157	D	0.345	0.38643	0.818	0.94632	D	0.966	0.98910	D	6	0.004136771	0.00081	T	.	.	.	0.429	0.73590	.	.	0.314716216878	0.31082	0.08182548998098027	0.08117	.	.	0.573933362961	0.49232	T	0.758635	0.93444	D	-0.104878	0.35615	T	0.0765659	0.75348	D	0.190866874594274	0.19896	T	0.966903	0.87955	D	0.7161771	0.78949	0.6736337	0.80842	0.7161771	0.78951	0.6736337	0.80843	-11.571	0.82699	D	.	.	0.459	0.62665	A	.	.	2.451597	0.31569	18.78	0.99168820127336643	0.54326	0.81478	0.40873	D	AEFI	0.302231	0.41053	N	-0.00528454834388875	0.41614	2.492382	-0.324298975982863	0.27316	1.514877	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.987000	0.30940	0.194000	0.21720	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	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	.	.	.	.	.	.	.	.	0.08333	349.83	51	chr2	130463126	.	C	T	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.146;DP=177;ExcessHet=0;FS=4.193;MLEAC=1;MLEAF=0.083;MQ=32.96;MQRankSum=0.924;QD=6.86;ReadPosRankSum=-0.458;SOR=1.426	GT:AD:DP:GQ:PL	0/1:32,19:51:99:360,0,685	5	0	1	0
chr2	131264432	131264432	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C2977G:p.L993V	.	14	1506	2	0	0	2	0.00066357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.222186184863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263827552	5.518e-05	6.912e-05	5.144e-05	5.894e-05	0.0002	4.503e-05	4.168e-05	4.906e-05	4.509e-05	0	6.898e-05	0	0	0	0.0002	6.143e-05	5.055e-05	5.859e-05	7.259e-05	8.533e-05	6.452e-05	8.103e-05	0.0002	3.988e-05	3.139e-05	6.82e-05	5.099e-05	0	0	6.564e-05	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.878	0.62312	P	.	.	.	.	1	0.81001	D	4.585	0.99218	H	-4.62	0.97884	D	-2.36	0.52128	N	0.292	0.33030	0.978	0.96832	D	0.964	0.98851	D	8	0.7819468	0.77927	D	0.222186	0.87842	D	0.480	0.77077	0.861	0.95829	0.763988352957	0.76183	0.010122206087772222	0.00974	.	.	0.553822577	0.46396	T	0.656849	0.89653	D	-0.0686763	0.41537	T	-0.0671254	0.65831	T	0.750710725784302	0.43324	D	0.976502	0.91818	D	0.3686036	0.58481	0.31042522	0.57053	0.3686036	0.58481	0.31042522	0.57052	-12.831	0.88654	D	.	.	0.347	0.56409	A	.	.	2.159868	0.27519	17.49	0.99111794558212429	0.52750	0.49333	0.28409	N	AEFI	0.320271	0.42342	N	0.116402078656089	0.47227	2.951461	-0.261959615550309	0.29363	1.64442	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	2.959000	0.48846	.	.	0.179000	0.17797	1.000000	0.71638	0.999000	0.35428	0.192000	0.21661	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	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	.	.	.	.	.	.	.	.	0.08333	397.83	43	chr2	131264432	.	C	G	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.642;DP=237;ExcessHet=0;FS=4.03;MLEAC=1;MLEAF=0.083;MQ=27.25;MQRankSum=0.773;QD=9.25;ReadPosRankSum=0.597;SOR=0.094	GT:AD:DP:GQ:PL	0/1:26,17:43:99:408,0,680	5	0	1	0
chr2	132320186	132320186	A	G	exonic	ZNF806	.	nonsynonymous SNV	ZNF806:NM_001355461:exon4:c.A161G:p.Q54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	89.62	6	chr2	132320186	.	A	G	89.62	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.834;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:56:94,0,56	1	0	1	4
chr2	132782106	132782106	T	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A4705T:p.I1569F	.	429	1087	5	1	0	7	0.00320954	.	.	.	2229228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00397501920552	0.0006	0.000199681	0.0004	0.0001	0.0003	0	0	0.0006	0.0022	6.057e-05	0.000401	62	154602	rs147016733	0.0004	0.0004	0.0004	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0003	0.0006	0.0033	0	0	0.0042	0.0004	0.0008	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0004	0.0029	0	0	0.0102	0.0005	0.0014	0.0002	0.703	0.04134	T	0.08	0.41913	T	0.013	0.16609	B	0.029	0.21540	B	0.863766	0.07132	U	1.139330	1	0.08975	N	0	0.06538	N	2.95	0.09635	T	-0.76	0.21215	N	0.077	0.10198	-0.9189	0.45702	T	0.012	0.04558	T	10	0.008092701	0.00184	T	0.003975	0.09400	T	0.029	0.06676	.	.	0.134007934775	0.12933	0.0459837562936726	0.04542	0.0586837492094	0.06507	0.260159790516	0.04910	T	0.006107	0.05549	T	-0.664003	0.00059	T	-0.822821	0.01396	T	0.00280000455282328	0.00029	T	0.417558	0.11011	T	0.040064566	0.05651	0.04287853	0.05207	0.040064566	0.05650	0.04287853	0.05206	-4.564	0.31716	T	.	.	0.089	0.12132	B	.;.	.;.	-0.299178	0.02620	0.328	0.28971077264325079	0.01514	0.09465	0.15215	N	AEFBI	0.113986	0.22469	N	-1.89912165681931	0.00345	0.014809	-1.9079731853538	0.00472	0.02090512	0.00479197942498734	0.10715	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.33	-5.68	0.02240	-0.132000	0.10446	.	.	-1.695000	0.00765	0.001000	0.13787	0.000000	0.08366	0.247000	0.23184	0.0:0.1768:0.3874:0.4358	7.969	0.29279	976	0.04745	Nck-associated protein 5, C-terminal;Nck-associated protein 5, 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	0.002518	0.000000	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	2026.83	149	chr2	132782106	.	T	A	2026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.25;DP=356;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.029;SOR=0.527	GT:AD:DP:GQ:PL	0/1:75,74:149:99:2037,0,2154	5	0	1	0
chr2	135840873	135840873	A	G	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon17:c.T2428C:p.Y810H	Lactase persistence/nonpersistence, Autosomal dominant	0	1502	16	4	0	24	0.00792602	.	.	.	970197	not_provided|not_specified|LACTASE_PERSISTENCE	MedGen:C3661900|MedGen:CN169374|MedGen:C1857231	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.00816845344271	0.0002	0.000599042	0.0002	0.0002	0.0004	0	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs55660827	0.0008	0.0008	0.0008	0.0008	0.1335	0.0007	0.0007	0.1257	0.1226	0.0024	0.0005	0	0	0	0.1335	6.116e-05	0.0025	0.0004	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0017	9.618e-05	0	0.0026	0	0	0	0.1088	7.348e-05	0.0043	0.0002	0.128	0.26965	T	0.093	0.39799	T	0.628	0.40146	P	0.773	0.56974	P	0.000581	0.43095	D	0.210963	0.984289	0.40125	D	2.105	0.58435	M	4.05	0.03092	T	-2.21	0.49684	N	0.338	0.37923	-1.1426	0.01264	T	0.031	0.13374	T	10	0.03318864	0.01488	T	0.008168	0.21649	T	0.170	0.43303	.	.	0.363336886782	0.35939	0.5377150212763859	0.53696	0.657411678916	0.58695	0.728210806847	0.71246	T	0.24235	0.61107	T	-0.349618	0.04751	T	-0.423823	0.30638	T	0.0947053454181062	0.11764	T	0.960604	0.85218	D	0.25625196	0.48663	0.12922642	0.31075	0.25625196	0.48663	0.12922642	0.31074	-8.275	0.62928	D	.	.	0.194	0.41418	B	.	.	4.234975	0.64158	24.7	0.99772253282477041	0.86003	0.90224	0.51232	D	AEFDGBHIJ	0.588732	0.58588	D	0.420798480619193	0.62566	4.474676	0.449949719781267	0.64711	4.732958	0.999999963291514	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.702456	0.68683	0	0.656636	0.63459	0	.	.	5.25	5.25	0.73169	5.130000	0.64587	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.111	0.72032	226	0.91233	.	.	.	.	.	.	Likely benign	0	0	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	0.094159	0.070707	0.057065	0.327485	0.000000	0.163793	0.003049	0.003788	0.08333	746.83	90	chr2	135840873	.	A	G	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.169;DP=272;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=1.52;SOR=0.996	GT:AD:DP:GQ:PL	0/1:56,34:90:99:757,0,1414	5	0	1	0
chr2	140335684	140335684	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon78:c.C12047T:p.P4016L	.	432	1081	9	0	0	9	0.00414556	.	.	.	3192637	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.491	0.0588799029466	0.0046	0.00259585	0.0032	0.0008	0.0018	0	0.0011	0.0049	0.0044	0.0012	0.0032341	500	154602	rs150957163	0.0038	0.0038	0.0037	0.0038	0.0071	0.0037	0.0036	0.0054	0.0048	0.0005	0.0028	0.0005	5.042e-05	0.0016	0.0071	0.0044	0.0033	0.0012	0.0032	0.0032	0.0032	0.0031	0.0049	0.0029	0.0029	0.0041	0.0039	0.0009	0.0396	0.0049	0.0003	0	0.0009	0.0136	0.0045	0.0047	0.0006	0.084	0.32929	T	0.023	0.57104	D	0.314	0.32870	B	0.098	0.30479	B	0.000017	0.62929	D	0.069585	0.999975	0.53665	D	0.52	0.13579	N	-3.24	0.93474	D	-0.93	0.24898	N	0.645	0.65673	-0.1080	0.79915	T	0.536	0.82863	D	10	0.0100182295	0.00224	T	0.05888	0.67473	D	0.491	0.77783	.	.	0.280695755116	0.27685	0.7178345472454309	0.71726	0.552560771212	0.52063	0.651532649994	0.60203	T	0.114708	0.43274	T	-0.192536	0.21887	T	-0.0482507	0.67141	D	0.0131924202646339	0.00234	T	0.874113	0.58433	D	0.10732213	0.25377	0.12931658	0.31097	0.10732213	0.25376	0.12931658	0.31096	-0.524	0.00598	T	.	.	0.118	0.23952	B	.	.	3.340424	0.46023	22.2	0.99771809714559434	0.86003	0.96965	0.71915	D	AEFI	0.905797	0.85777	D	0.334709480974737	0.57937	3.963332	0.447883297387772	0.64579	4.716543	0.896364360218003	0.25976	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.420000	0.79394	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8538:0.1462	14.563	0.67745	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	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	0.007560	0.005051	0.009511	0.008772	0.000000	0.008621	0.006135	0.000000	0.08333	497.83	48	chr2	140335684	.	G	A	497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.067;DP=219;ExcessHet=0;FS=4.476;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.021;SOR=0.26	GT:AD:DP:GQ:PL	0/1:29,19:48:99:508,0,818	5	0	1	0
chr2	151252769	151252770	GA	-	exonic	RBM43	.	frameshift deletion	RBM43:NM_198557:exon3:c.300_301del:p.H101Ffs*3	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0025	0.0010	0.0002	0	0.0098	0.0032	0.0055	0.0005	0.0003842	10	26028	rs553068170	0.0032	0.0033	0.0033	0.0032	0.0037	0.0032	0.0031	0.0036	0.0036	0.0003	0.0004	7.712e-05	0	0.0082	0.0007	0.0037	0.0022	0.0004	0.0026	0.0026	0.0027	0.0025	0.0035	0.0024	0.0023	0.0031	0.0030	0.0007	0	0.0010	0	0	0.0101	0	0.0035	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	824.79	55	chr2	151252768	.	TGA	T	824.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=231;ExcessHet=0;FS=3.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.248;SOR=0.299	GT:AD:DP:GQ:PL	0/1:32,23:55:99:835,0,1221	5	0	1	0
chr2	152676556	152676556	T	C	exonic	PRPF40A	.	nonsynonymous SNV	PRPF40A:NM_001365598:exon9:c.A952G:p.I318V,PRPF40A:NM_001365599:exon9:c.A952G:p.I318V,PRPF40A:NM_001365601:exon9:c.A826G:p.I276V,PRPF40A:NM_001354431:exon10:c.A826G:p.I276V,PRPF40A:NM_001365596:exon10:c.A1006G:p.I336V,PRPF40A:NM_001365597:exon10:c.A1006G:p.I336V,PRPF40A:NM_001365600:exon10:c.A880G:p.I294V,PRPF40A:NM_001365604:exon10:c.A658G:p.I220V,PRPF40A:NM_001365605:exon10:c.A658G:p.I220V,PRPF40A:NM_017892:exon10:c.A880G:p.I294V,PRPF40A:NM_001365602:exon11:c.A712G:p.I238V,PRPF40A:NM_001365603:exon11:c.A712G:p.I238V,PRPF40A:NM_001354432:exon12:c.A664G:p.I222V	.	423	1098	1	0	0	1	0.000455166	.	.	.	2360238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00468595367359	0.0005	0.000599042	0.0003	0.0007	0	0	0	0.0005	0	0	0.0002458	38	154602	rs199801313	0.0005	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0005	0.0005	0.0002	0.0005	0	0	2.001e-05	0.0005	0.0006	0.0003	0	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0007	0	0	0	0	0.0006	0.0014	0.0002	0.779	0.20306	T	0.335	0.18286	T	.	.	.	.	.	.	0.011592	0.29474	N	0.382752	0.73462	0.29795	N	.	.	.	.	.	.	0.29	0.04161	N	.	.	-1.0681	0.09836	T	0.035	0.15160	T	10	0.020445287	0.00471	T	0.004686	0.11628	T	0.045	0.12272	.	.	0.302481332339	0.29867	0.1051470948914888	0.10444	0.53791415256	0.51068	0.57735478878	0.49714	T	.	.	.	-0.454468	0.01063	T	-0.509861	0.21330	T	0.0295334694663161	0.01918	T	0.80202	0.65583	T	.	.	.	.	.	.	.	.	-1.694	0.02213	T	.	.	0.069	0.03625	B	.;.;.;.	.;.;.;.	2.916138	0.38697	20.8	0.97735708619033057	0.35646	0.70368	0.34562	D	AEFBIJ	0.113202	0.22345	N	-0.268745364970264	0.30362	1.692244	-0.0429847775779959	0.37796	2.217825	0.99991628602179	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	2.049000	0.40912	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0864:0.0:0.9136	8.818	0.34163	343	0.85802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1254.83	88	chr2	152676556	.	T	C	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.358;DP=266;ExcessHet=0;FS=2.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.03;SOR=0.418	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1265,0,1001	5	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	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	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.08333	3321.83	219	chr2	159350063	.	C	T	3321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=410;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.452;SOR=1.039	GT:AD:DP:GQ:PL	0/1:100,119:219:99:3332,0,2587	5	0	1	0
chr2	162008613	162008613	C	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379606:exon21:c.G1882A:p.V628M,DPP4:NM_001379604:exon22:c.G1933A:p.V645M,DPP4:NM_001379605:exon22:c.G1930A:p.V644M,DPP4:NM_001935:exon22:c.G1936A:p.V646M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0328063903495	.	.	4.124e-05	0	0	0.0003	0	2.999e-05	0	0	3.88e-05	6	154602	rs777468645	9.579e-06	9.577e-06	1.362e-05	5.501e-06	5.039e-05	5.56e-06	4.35e-06	8.35e-06	3.32e-06	0	0	0	5.039e-05	1.872e-05	0	8.995e-06	1.656e-05	0	6.579e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.988	0.77976	D	0.000069	0.52346	D	0.125508	0.992729	0.41725	D	2.48	0.72069	M	1.48	0.31731	T	-1.17	0.29933	N	0.691	0.69649	-0.7557	0.57636	T	0.182	0.53026	T	10	0.697182	0.72217	D	0.032806	0.54533	D	0.246	0.55340	0.488	0.57257	0.397838977388	0.39401	0.8085946017599988	0.80814	0.604475603728	0.55385	0.584115207195	0.50665	T	0.386	0.74742	T	-0.21931	0.18088	T	-0.327098	0.41791	T	0.518309678929911	0.33303	D	0.852015	0.53695	D	0.4891351	0.66450	0.25512335	0.51189	0.4891351	0.66451	0.25512335	0.51189	-7.591	0.58248	D	.	.	0.149	0.33039	B	.	.	4.397387	0.67920	25.2	0.99897684005029974	0.97048	0.86663	0.45991	D	AEFDBI	0.343981	0.43962	N	0.6234512076339	0.74659	6.170632	0.575496882290993	0.73187	5.929755	0.99953032296838	0.40238	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.84	4.96	0.65153	2.632000	0.46177	0.408000	0.18078	0.599000	0.40250	0.987000	0.36337	0.029000	0.21193	0.994000	0.71098	0.2615:0.6685:0.0:0.0699	8.566	0.32699	493	0.76500	Peptidase S9, prolyl oligopeptidase, 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	.	.	.	.	.	.	.	.	0.08333	863.83	69	chr2	162008613	.	C	T	863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.444;SOR=0.743	GT:AD:DP:GQ:PL	0/1:34,35:69:99:874,0,786	5	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L,FAP:NM_004460:exon8:c.T553C:p.F185L	.	444	1071	6	1	0	8	0.00372093	.	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.008152	0.002924	0.000000	0.000000	0.018293	0.007576	0.08333	386.83	34	chr2	162219117	.	A	G	386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.957;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.794;SOR=0.914	GT:AD:DP:GQ:PL	0/1:16,18:34:99:397,0,395	5	0	1	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	8	1446	61	7	0	75	0.0252781	.	.	.	136097	not_provided|Nephronophthisis_12|Asphyxiating_thoracic_dystrophy_4|not_specified|Nephronophthisis|Jeune_thoracic_dystrophy|Connective_tissue_disorder	MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.000000	0.014946	0.043860	0.050000	0.017241	0.021341	0.030303	0.08333	1161.83	75	chr2	165917310	.	G	A	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.436;DP=249;ExcessHet=0;FS=2.111;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.668;SOR=0.435	GT:AD:DP:GQ:PL	0/1:28,47:75:99:1172,0,574	5	0	1	0
chr2	178554618	178554618	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon160:c.A61534G:p.S20512G,TTN:NM_133432:exon161:c.A61909G:p.S20637G,TTN:NM_133437:exon161:c.A62110G:p.S20704G,TTN:NM_133378:exon281:c.A81025G:p.S27009G,TTN:NM_001256850:exon282:c.A83806G:p.S27936G,TTN:NM_001267550:exon332:c.A88729G:p.S29577G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0312185513654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	0.68	0.16426	N	0.57	0.54347	T	-2.79	0.64019	D	0.46	0.70966	-0.6154	0.64180	T	0.201	0.55794	T	9	0.29454678	0.47026	T	0.031219	0.53353	D	0.300	0.62068	0.398	0.42590	0.225902525712	0.22197	.	.	0.443632335628	0.44285	0.633472323418	0.57638	T	.	.	.	-0.0411621	0.45775	T	-0.296903	0.45050	T	0.428428444799208	0.30003	T	0.968203	0.91515	D	.	.	.	.	.	.	.	.	-8.001	0.61077	D	.	.	0.370	0.57847	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.790896	0.36690	20.3	0.93793767433405484	0.23759	0.98512	0.83569	D	AEFBI	0.950903	0.96497	D	0.608607981096364	0.73717	6.012188	0.67089810020643	0.80176	7.240855	0.999999995581605	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	8.017000	0.88732	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.0:1.0	16.182	0.81730	494	0.76445	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2027.83	137	chr2	178554618	.	T	C	2027.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=328;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.446;SOR=0.607	GT:AD:DP:GQ:PL	0/1:66,71:137:99:2038,0,1842	5	0	1	0
chr2	179970716	179970716	C	G	exonic	CWC22	.	nonsynonymous SNV	CWC22:NM_001376032:exon9:c.G958C:p.E320Q,CWC22:NM_001376029:exon10:c.G1081C:p.E361Q,CWC22:NM_001376030:exon10:c.G1081C:p.E361Q,CWC22:NM_001376033:exon10:c.G1081C:p.E361Q,CWC22:NM_020943:exon10:c.G1081C:p.E361Q	.	438	1070	13	1	0	15	0.00696056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0239538737051	0.0008	0.000798722	0.0011	0	0.0006	0	0	0.0006	0.0022	0.0049	0.0009573	148	154602	rs143785942	0.0008	0.0008	0.0006	0.0010	0.0062	0.0008	0.0007	0.0058	0.0056	0	0.0009	0.0036	0	0	0.0033	0.0004	0.0010	0.0062	0.0008	0.0008	0.0008	0.0009	0.0054	0.0007	0.0007	0.0038	0.0032	4.813e-05	0	0.0026	0.0017	0	0	0	0.0007	0.0024	0.0054	0.02	0.49613	D	0.011	0.64786	D	0.999	0.77913	D	0.905	0.64260	P	0.000000	0.84330	D	0.047002	1	0.81001	D	3.62	0.93917	H	1.78	0.30401	T	-2.38	0.52451	N	0.447	0.48504	-0.5570	0.66518	T	0.242	0.61071	T	10	0.011906892	0.00258	T	0.023954	0.46940	T	0.250	0.55888	.	.	0.542053899377	0.53859	0.3351762236590063	0.33430	0.314344865428	0.33714	0.568953752518	0.48529	T	0.363067	0.72887	T	-0.350843	0.04674	T	-0.27551	0.47261	T	0.383134782314301	0.28303	T	0.985301	0.94937	D	0.4519958	0.64167	0.21143495	0.45572	0.4519958	0.64168	0.21143495	0.45571	-10.033	0.74109	D	.	.	0.381	0.58458	A	.;.	.;.	4.881838	0.80076	27.2	0.99805237606878339	0.88995	0.98938	0.88891	D	AEFBI	0.883241	0.81198	D	0.953746288980798	0.94133	12.52623	0.927658320162605	0.96668	14.98818	0.999999998782823	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.381	0.94526	215	0.91651	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	952.83	65	chr2	179970716	.	C	G	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.847;DP=244;ExcessHet=0;FS=0.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.047;SOR=0.479	GT:AD:DP:GQ:PL	0/1:25,40:65:99:963,0,611	5	0	1	0
chr2	185794172	185794172	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G7036C:p.A2346P	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0141521100308	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	3.23e-05	5	154602	rs201278788	0.0001	0.0001	0.0001	0.0001	0.0040	9.94e-05	9.392e-05	0.0028	0.0023	0.0004	0.0002	0.0006	0	0	0.0040	7.607e-05	0.0003	7.592e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.725e-05	0.0001	0.0001	9.643e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0002	0.016	0.51853	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.005	0.54552	M	0.63	0.53088	T	-3.45	0.67589	D	0.536	0.56403	-1.0186	0.24171	T	0.058	0.24502	T	7	0.1282425	0.24393	T	0.014152	0.34071	T	0.255	0.56562	.	.	0.224531998449	0.22054	0.42104630777496355	0.42020	.	.	0.306665986776	0.11403	T	0.080346	0.36341	T	-0.182507	0.23364	T	-0.230635	0.51711	T	0.0733910318300923	0.09119	T	0.713029	0.32487	T	0.42655063	0.62525	0.47163928	0.69367	0.42655063	0.62526	0.47163928	0.69367	-3.732	0.19791	T	.	.	0.204	0.42990	B	.	.	0.370757	0.07432	4.062	0.97894111751001822	0.36690	0.10438	0.15945	N	AEFCIJ	.	.	.	-0.662046990807816	0.17111	0.8776847	-0.745581489346351	0.15830	0.8345486	0.0704529277725923	0.15528	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	-0.839	0.10214	-0.525000	0.06302	0.252000	0.16440	0.676000	0.76740	0.001000	0.13787	0.001000	0.17328	0.203000	0.21983	0.3769:0.0:0.3125:0.3107	3.073	0.05862	771	0.49057	.	.	.	.	.	.	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	0.002674	0.000000	0.008475	0.017442	0.000000	0.000000	0.000000	0.000000	0.08333	988.83	55	chr2	185794172	.	G	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.893;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=1.59;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,34:55:99:999,0,610	5	0	1	0
chr2	189711097	189711097	C	G	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon10:c.C2168G:p.S723C,ANKAR:NM_144708:exon10:c.C2168G:p.S723C	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00427857713609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.228	0.25286	T	.	.	.	.	.	.	0.009341	0.30401	N	0.277909	0.717415	0.30519	N	0.14	0.08730	N	1.58	0.29085	T	1.17	0.01121	N	0.493	0.52651	-1.0610	0.11508	T	0.045	0.19194	T	8	0.28609908	0.46192	T	0.004279	0.10373	T	0.089	0.25827	0.612	0.74535	0.62768934338	0.62464	0.37149813954701505	0.37063	0.105688532859	0.11951	0.686602473259	0.65217	T	0.003702	0.03111	T	-0.150921	0.28168	T	-0.454564	0.27194	T	0.304355868417885	0.25183	T	0.644935	0.25655	T	0.095952995	0.22591	0.06849217	0.14310	0.095952995	0.22591	0.06849217	0.14310	-0.393	0.00522	T	.	.	0.102	0.17827	B	.;.	.;.	2.735036	0.35810	20.0	0.9849930069566083	0.42192	0.58000	0.30524	D	AEFBI	0.135593	0.25598	N	0.105776126529715	0.46731	2.90911	0.232739988099018	0.51673	3.347822	0.0629999298456333	0.15281	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	2.148000	0.41859	4.759000	0.44704	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.995000	0.73285	0.0:0.8179:0.1821:0.0	11.435	0.49303	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	966.83	89	chr2	189711097	.	C	G	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.104;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=1.38;SOR=0.699	GT:AD:DP:GQ:PL	0/1:48,41:89:99:977,0,1173	5	0	1	0
chr2	189728744	189728744	T	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon15:c.T3116C:p.V1039A,ANKAR:NM_144708:exon15:c.T3116C:p.V1039A	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0118368789669	0.0023	0.00219649	0.0037	0.0007	0.0005	0	0.0005	0.0047	0.0066	0.0067	0.0035058	542	154602	rs150498189	0.0034	0.0034	0.0035	0.0034	0.0062	0.0034	0.0033	0.0058	0.0056	0.0007	0.0011	3.827e-05	0	0.0011	0.0024	0.0038	0.0027	0.0062	0.0021	0.0021	0.0020	0.0021	0.0054	0.0019	0.0018	0.0038	0.0032	0.0005	0	0.0016	0.0003	0	0.0006	0	0.0034	0.0009	0.0054	0.003	0.68238	D	0.005	0.72224	D	.	.	.	.	.	.	0.100521	0.19883	N	0.368171	0.937424	0.81001	D	2.645	0.77386	M	0.55	0.54728	T	-2.89	0.60665	D	0.571	0.63035	-0.5479	0.66866	T	0.246	0.61530	T	10	0.01316914	0.00280	T	0.011837	0.29861	T	0.200	0.48430	.	.	0.826551919957	0.82491	0.6073061865298186	0.60662	0.137857802033	0.15542	0.429352641106	0.29120	T	0.085344	0.37480	T	-0.298527	0.08799	T	-0.198839	0.54757	T	0.065792203298937	0.08048	T	0.653735	0.26383	T	0.28491238	0.51515	0.41612348	0.65706	0.28491238	0.51515	0.41612348	0.65706	-8.326	0.63271	D	.	.	0.671	0.71783	P	.;.	.;.	3.736898	0.53487	23.4	0.99518322806849402	0.69100	0.91068	0.52797	D	AEFI	0.588125	0.58551	D	0.454403147890713	0.64454	4.700239	0.424252485081159	0.63080	4.534804	0.863128076154468	0.25265	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.07	5.07	0.68106	5.520000	0.66794	7.702000	0.66341	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:0.0:1.0	13.934	0.63522	785	0.46916	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1004.83	94	chr2	189728744	.	T	C	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.245;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.87;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1015,0,1258	5	0	1	0
chr2	195680657	195680657	G	C	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon2:c.G615C:p.E205D,SLC39A10:NM_020342:exon2:c.G615C:p.E205D	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00783370889264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.324	0.18903	T	0.0	0.02946	B	0.002	0.06944	B	0.042962	0.23786	N	0.454642	0.904877	0.81001	D	0.255	0.09829	N	-0.07	0.63738	T	-0.66	0.19085	N	0.058	0.03175	-0.9300	0.44139	T	0.159	0.49313	T	10	0.03588161	0.01858	T	0.007834	0.20773	T	0.098	0.28162	0.08	0.00663	0.143184338766	0.13958	0.18248859834087128	0.18167	0.197794194553	0.22146	0.306092590094	0.11317	T	0.009626	0.08755	T	-0.23467	0.16035	T	-0.574864	0.15006	T	0.056316962129101	0.06575	T	0.653935	0.26417	T	0.035487074	0.04187	0.02863399	0.01117	0.035487074	0.04187	0.02863399	0.01117	-3.896	0.22243	T	.	.	0.079	0.07318	B	.;.	.;.	1.296150	0.16976	12.88	0.98602576162104749	0.43533	0.84310	0.43392	D	AEFDBIJ	0.177060	0.30429	N	-0.457635708612576	0.23482	1.26133	-0.348299306977514	0.26562	1.467955	0.0706669308278067	0.15537	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	2.06	0.25932	-0.065000	0.11575	2.016000	0.30187	-0.127000	0.13314	0.324000	0.25538	1.000000	0.68203	0.995000	0.73285	0.2721:0.0:0.469:0.2589	4.265	0.10208	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1634.83	113	chr2	195680657	.	G	C	1634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.709;DP=301;ExcessHet=0;FS=0.698;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.672;SOR=0.73	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1645,0,1604	5	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	.	.	.	.	.	.	.	.	0.5	186.71	43	chr2	197523648	.	T	C	186.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-0.62;DP=213;ExcessHet=0.5115;FS=135.166;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.34;SOR=6.516	GT:AD:DP:GQ:PL	0/1:32,11:43:82:82,0,618	0	0	2	4
chr2	198085044	198085044	G	C	exonic	PLCL1	.	nonsynonymous SNV	PLCL1:NM_006226:exon2:c.G1527C:p.K509N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0151017167208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.122	0.35710	T	0.122	0.26746	B	0.219	0.37734	B	0.000407	0.44736	D	0.159094	0.979387	0.39556	D	1.08	0.27187	L	0.64	0.52867	T	-1.88	0.43906	N	0.359	0.40063	-1.0489	0.14705	T	0.110	0.39699	T	9	0.19637656	0.35526	T	0.015102	0.35634	T	0.051	0.14325	0.454	0.51775	0.307648195649	0.30373	0.3722203476784088	0.37136	0.570573104632	0.53213	0.490162491798	0.37461	T	0.103934	0.41305	T	-0.169909	0.25248	T	-0.481839	0.24251	T	0.413396328687668	0.29445	T	0.812119	0.46368	T	0.24722166	0.47698	0.19290069	0.42830	0.24722166	0.47698	0.19290069	0.42829	-6.553	0.50694	T	.	.	0.270	0.54580	B	.;.;.	.;.;.	2.040703	0.25936	16.94	0.99155871195980494	0.53959	0.91604	0.53876	D	AEFBI	0.401540	0.47599	N	-0.318252924698682	0.28455	1.569621	-0.203952619665045	0.31394	1.77628	1.22720184401209E-4	0.05386	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.94	1.11	0.19640	1.080000	0.30390	0.699000	0.20831	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.995000	0.73285	0.3404:0.0:0.6596:0.0	10.928	0.46413	716	0.55970	Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X 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	.	.	.	.	.	.	.	.	0.08333	1599.83	139	chr2	198085044	.	G	C	1599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.199;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=2.05;SOR=0.731	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1610,0,2047	5	0	1	0
chr2	201491710	201491710	G	A	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.C4631T:p.P1544L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.011935293154	.	0.000399361	0.0019	0	0	0	0	0.0034	0	0.0015	0.0003816	59	154602	rs149839128	0.0006	0.0006	0.0006	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	6.332e-05	0.0001	0.0114	0	0	0.0012	0.0004	0.0013	0.0013	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0005	0.0004	7.224e-05	0	0.0002	0.0115	0	0	0.0102	0.0006	0.0005	0.0012	0.27	0.16038	T	0.455	0.12776	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.97	0.42502	T	-4.71	0.79915	D	0.144	0.14480	-1.0081	0.27510	T	0.073	0.29547	T	9	0.0046646893	0.00098	T	0.011935	0.30037	T	0.017	0.02790	.	.	0.115124310173	0.11017	0.06060005685233868	0.06000	0.201567771287	0.22553	0.269688099623	0.06100	T	.	.	.	-0.654801	0.00068	T	-0.732367	0.04221	T	0.0179762314626022	0.00522	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	0.142	0.31228	B	.	.	1.215757	0.16094	12.31	0.99417804313482172	0.63597	0.03681	0.08950	N	AEFBI	0.087916	0.17824	N	-0.824887943302275	0.12675	0.6194099	-0.830363664868057	0.13761	0.7155965	5.56594895951049E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	3.31	0.37025	-0.085000	0.11215	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.148000	0.20235	0.0943:0.1723:0.5555:0.1779	3.369	0.06793	571	0.70397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1532.83	118	chr2	201491710	.	G	A	1532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.246;DP=304;ExcessHet=0;FS=2.361;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.11;SOR=0.784	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1543,0,1436	5	0	1	0
chr2	209878039	209878039	C	T	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_001371986:exon24:c.C3926T:p.T1309I,UNC80:NM_032504:exon24:c.C3932T:p.T1311I,UNC80:NM_182587:exon24:c.C3917T:p.T1306I	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	418	1098	5	1	0	7	0.00317749	.	.	.	697288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.221	.	0.0072	0.00179712	0.0061	0.0014	0.0024	0	0.0080	0.0091	0	0.0043	0.0018823	291	154602	rs78846221	0.0087	0.0084	0.0087	0.0087	0.0101	0.0086	0.0085	0.0099	0.0098	0.0012	0.0015	0.0028	0	0.0090	0.0018	0.0101	0.0070	0.0031	0.0062	0.0062	0.0064	0.0059	0.0101	0.0058	0.0057	0.0094	0.0092	0.0018	0	0.0018	0.0032	0.0002	0.0104	0.0068	0.0101	0.0033	0.0044	0.048	0.40068	D	0.0	0.92824	D	0.95	0.53885	P	0.648	0.52381	P	0.000000	0.84330	D	0.000000	0.862768	0.35418	D	0.69	0.16971	N	1.46	0.32238	T	-2.21	0.49684	N	0.34	0.39153	-1.1017	0.03892	T	0.069	0.28247	T	10	0.006829798	0.00155	T	.	.	.	0.221	0.51721	.	.	0.298403945805	0.29456	0.7920771823516041	0.79159	0.963323052377	0.73079	0.870447874069	0.92631	D	0.11355	0.43068	T	-0.361465	0.04048	T	-0.280319	0.46772	T	0.0205152964166896	0.00751	T	0.933007	0.74900	D	0.27861664	0.50914	0.34997913	0.60614	0.27886018	0.50938	0.34997913	0.60614	-3.458	0.15849	T	.	.	0.372	0.57938	A	.;.	.;.	4.304690	0.65759	24.9	0.99873627071780191	0.95076	0.94168	0.60319	D	AEFBI	0.596494	0.59064	D	0.531044584787285	0.68935	5.286244	0.61984606126709	0.76381	6.480759	0.998458076251684	0.36996	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.05	6.05	0.98156	4.573000	0.60606	5.977000	0.52101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.609	0.99471	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001129	0.000000	0.005814	0.000000	0.000000	0.000000	0.005556	0.000000	0.1667	2551.04	81	chr2	209878039	.	C	T	2551.04	.	AC=2;AF=0.167;AN=12;DP=255;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.49;SOR=1.058	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2571,243,0	5	1	0	0
chr2	215333431	215333431	T	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon9:c.T896A:p.I299N	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.166441564802	.	.	2.471e-05	0	8.639e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs777028878	1.231e-05	1.231e-05	4.084e-06	2.063e-05	0.0002	7.7e-06	6.35e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	3.597e-06	0	0.0002	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.601	0.39346	P	0.57	0.49854	P	0.022064	0.26706	N	0.421784	0.999544	0.21009	N	2.71	0.79292	M	-1.51	0.81399	D	-4.68	0.79659	D	0.664	0.67304	-0.0169	0.81903	T	0.620	0.86601	D	10	0.96587676	0.96070	D	0.166442	0.84506	D	0.522	0.79704	0.847	0.95025	0.76359754505	0.76143	0.8462218189206467	0.84583	0.286173745657	0.31023	0.278636813164	0.07304	T	0.714452	0.91880	D	-0.0451465	0.45181	T	-0.0999723	0.63400	T	0.89344322681427	0.54467	D	0.987751	0.95824	D	0.8306699	0.85949	0.76298255	0.85997	0.8306699	0.85950	0.76298255	0.85998	-8.683	0.66525	D	0.22429183492237345	0.30289	0.601	0.70056	P	.;.	.;.	3.236889	0.44165	21.9	0.98855225681011705	0.47373	0.97611	0.75892	D	AEFDBI	0.746429	0.68880	D	0.257388636759128	0.54006	3.567271	0.200985006067389	0.49902	3.188032	0.999999999909955	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	6.273000	0.72598	2.823000	0.34975	0.660000	0.55035	0.995000	0.38783	0.236000	0.23818	0.011000	0.09372	0.0:0.0:0.0:1.0	16.108	0.81044	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2749.0	67	chr2	215333431	.	T	A	2749.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.985;DP=276;ExcessHet=0;FS=2.836;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.382;SOR=0.412	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1848,201,0	4	1	1	0
chr2	219632077	219632079	GAA	-	exonic	SLC4A3	.	nonframeshift deletion	SLC4A3:NM_001326559:exon7:c.1002_1004del:p.K340del,SLC4A3:NM_005070:exon7:c.921_923del:p.K313del,SLC4A3:NM_201574:exon7:c.1002_1004del:p.K340del	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0109	0.000998403	0.0006	0.0001	0.0011	0.0001	0	0.0007	0.0022	0.0006	0.0001537	4	26028	rs557843124	0.0003	0.0004	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0006	0.0065	0.0001	0	0.0023	0.0001	0.0010	0.0001	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	4.813e-05	0	0.0016	0.0066	0	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010585	0.005102	0.008152	0.017544	0.000000	0.025862	0.015244	0.007576	0.1667	3327.01	75	chr2	219632076	.	GGAA	G	3327.01	.	AC=2;AF=0.167;AN=12;DP=273;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.4;SOR=1.24	GT:AD:DP:GQ:PL	1/1:0,75:75:99:3347,226,0	5	1	0	0
chr2	231460695	231460697	TCA	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.783_785del:p.D261del	.	417	1092	12	1	0	14	0.00636943	.	.	.	2819032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0147	0.00539137	0.0059	0.0056	0.0041	0.0019	0.0008	0.0074	0.0033	0.0055	0.0005379	14	26028	rs556842200	0.0072	0.0072	0.0072	0.0072	0.0080	0.0071	0.0070	0.0078	0.0077	0.0051	0.0040	0.0120	0.0016	0.0017	0.0080	0.0079	0.0066	0.0058	0.0059	0.0058	0.0061	0.0056	0.0078	0.0055	0.0054	0.0073	0.0070	0.0042	0	0.0042	0.0131	0.0018	0.0015	0.0347	0.0078	0.0063	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006218	0.015152	0.001359	0.013986	0.000000	0.000000	0.012195	0.000000	0.1667	4497.01	102	chr2	231460694	.	CTCA	C	4497.01	.	AC=2;AF=0.167;AN=12;DP=300;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.87;SOR=1.212	GT:AD:DP:GQ:PL	1/1:0,102:102:99:4517,308,0	5	1	0	0
chr2	232407089	232407089	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon2:c.C100G:p.Q34E	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0185	0.0118	0.0080	0.0423	0.0379	0.0176	0.0264	0.0133	0.0001423	22	154602	rs146369944	0.0020	0.0031	0.0021	0.0020	0.0060	0.0020	0.0020	0.0044	0.0039	0.0015	0.0008	7.681e-05	0.0008	0.0260	0.0060	0.0011	0.0024	0.0010	0.0034	0.0035	0.0024	0.0045	0.0023	0.0032	0.0031	0.0020	0.0019	0.0010	0	0.0005	0	0.0014	0.0272	0.0068	0.0023	0.0024	0.0017	0.206	0.19927	T	0.604	0.07842	T	0.024	0.19075	B	0.01	0.14941	B	0.067388	0.21744	N	0.518247	1	0.08975	N	2.255	0.64187	M	1.2	0.37405	T	-1.59	0.38345	N	0.182	0.19728	-0.9989	0.30227	T	0.087	0.33662	T	10	0.010338604	0.00230	T	.	.	.	0.027	0.05988	.	.	.	.	0.8038667715211593	0.80340	0.165376590012	0.18654	0.414885997772	0.27132	T	0.057159	0.30489	T	-0.590284	0.00167	T	-0.621835	0.11042	T	0.0116233311594767	0.00177	T	0.0672933	0.00489	T	0.060269307	0.12347	0.052819178	0.08778	0.060269307	0.12346	0.052819178	0.08778	-7.742	0.59299	D	.	.	0.096	0.15296	B	.	.	0.535574	0.09040	5.825	0.20155188850739872	0.00712	0.07167	0.13193	N	AEFDBCI	0.084601	0.17147	N	-0.942842410891978	0.09854	0.4682348	-1.10739888169491	0.07557	0.3680996	0.123914479892608	0.16946	0.729952	0.87565	0	0.610034	0.51514	0	0.877121	0.99996	0	0.613276	0.41899	0	.	.	2.19	-0.276	0.12264	-0.634000	0.05575	1.500000	0.26949	-0.573000	0.04775	0.000000	0.06391	0.604000	0.25734	0.021000	0.11733	0.2975:0.4607:0.1215:0.1203	2.424	0.04183	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.049849	0.065657	0.051630	0.008772	0.050000	0.060345	0.048780	0.071970	0.08333	243.83	140	chr2	232407089	.	C	G	243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.555;DP=554;ExcessHet=0;FS=0.82;MLEAC=1;MLEAF=0.083;MQ=57.22;MQRankSum=-11.25;QD=1.74;ReadPosRankSum=3.12;SOR=0.854	GT:AD:DP:GQ:PL	0/1:114,26:140:99:254,0,3301	5	0	1	0
chr2	233841920	233841920	G	A	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.C605T:p.T202M,HJURP:NM_001282962:exon6:c.C698T:p.T233M,HJURP:NM_018410:exon8:c.C860T:p.T287M	.	431	1089	2	0	0	2	0.000917431	.	.	.	2673588	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0431582298789	7.7e-05	.	0.0002	9.61e-05	8.637e-05	0	0	0.0001	0	0.0010	0.0001876	29	154602	rs375879998	0.0001	0.0001	8.984e-05	0.0001	0.0010	0.0001	9.415e-05	0.0008	0.0007	2.987e-05	2.236e-05	0	0	0	0	6.565e-05	0.0001	0.0010	9.198e-05	9.194e-05	7.709e-05	0.0001	0.0012	5.527e-05	4.364e-05	0.0005	0.0004	4.826e-05	0	6.544e-05	0.0003	0	0	0	5.88e-05	0	0.0012	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.953	0.76113	D	0.002626	0.36208	N	0.127661	0.99449	0.23508	N	1.935	0.51832	L	0.44	0.56609	T	-4.73	0.84742	D	0.468	0.66959	-0.8291	0.53358	T	0.257	0.62777	T	10	0.12719074	0.24187	T	0.043158	0.60838	D	0.258	0.56959	.	.	0.723437521545	0.72099	0.21895567470315777	0.21811	0.426199210594	0.42998	0.490118950605	0.37455	T	0.073711	0.44609	T	-0.313454	0.07448	T	-0.279379	0.46867	T	0.594254374504089	0.36174	D	0.813919	0.46746	T	0.20043314	0.42018	0.27522427	0.53457	0.20043314	0.42017	0.27522427	0.53456	-5.057	0.37569	T	.	.	0.309	0.57523	B	.;.;.;.;.	.;.;.;.;.	4.395646	0.67869	25.2	0.99806448649169621	0.89085	0.85469	0.44604	D	AEFBCI	0.220940	0.34562	N	0.214323818128673	0.51893	3.367161	0.109413521692417	0.45028	2.773435	0.999976021584836	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.46	3.58	0.40133	3.841000	0.55557	7.597000	0.61435	-0.106000	0.15538	0.988000	0.36536	1.000000	0.68203	0.263000	0.23594	0.1028:0.0:0.8972:0.0	8.520	0.32434	889	0.27310	.;.;Holliday junction recognition protein, HJURP;Holliday junction recognition protein, HJURP;Holliday junction recognition protein, HJURP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	3373.04	101	chr2	233841920	.	G	A	3373.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.4;SOR=0.839	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3393,303,0	5	1	0	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	473.67	189	chr3	15003967	.	C	G	473.67	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.886;DP=807;ExcessHet=0.4139;FS=209.401;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=2.05;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,55:189:99:0|1:15003967_C_G:338,0,3374:15003967	2	0	2	2
chr3	17161154	17161154	C	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349091:exon20:c.G1789A:p.G597S,TBC1D5:NM_001349080:exon21:c.G2197A:p.G733S,TBC1D5:NM_001349086:exon21:c.G1855A:p.G619S,TBC1D5:NM_001349087:exon21:c.G1789A:p.G597S,TBC1D5:NM_001349089:exon21:c.G1789A:p.G597S,TBC1D5:NM_001349073:exon22:c.G2263A:p.G755S,TBC1D5:NM_001349077:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349078:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349081:exon22:c.G2218A:p.G740S,TBC1D5:NM_001349083:exon22:c.G1855A:p.G619S,TBC1D5:NM_001349088:exon22:c.G1789A:p.G597S,TBC1D5:NM_001349090:exon22:c.G1789A:p.G597S,TBC1D5:NM_014744:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349074:exon23:c.G2263A:p.G755S,TBC1D5:NM_001349075:exon23:c.G2263A:p.G755S,TBC1D5:NM_001349076:exon23:c.G2197A:p.G733S,TBC1D5:NM_001349079:exon23:c.G2197A:p.G733S,TBC1D5:NM_001349082:exon23:c.G1855A:p.G619S,TBC1D5:NM_001349084:exon23:c.G1855A:p.G619S,TBC1D5:NM_001349085:exon23:c.G1855A:p.G619S,TBC1D5:NM_001134381:exon24:c.G2263A:p.G755S	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0340129734427	0.0008	0.00159744	0.0013	0.0002	0.0003	0.0001	0	0.0006	0	0.0067	0.0012031	186	154602	rs149948648	0.0010	0.0010	0.0009	0.0012	0.0068	0.0010	0.0010	0.0063	0.0061	8.961e-05	0.0002	0.0005	2.519e-05	1.872e-05	0.0009	0.0008	0.0006	0.0068	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0004	0.0045	0.0039	0.0002	0	0.0002	0.0012	0	0	0.0034	0.0006	0	0.0062	0.277	0.19854	T	0.662	0.09425	T	0.154	0.28120	B	0.015	0.17295	B	0.048650	0.23232	N	0.488192	0.814912	0.34693	D	1.5	0.37844	L	1.52	0.30669	T	-0.66	0.19085	N	0.042	0.03841	-1.0833	0.06720	T	0.053	0.22423	T	10	0.0044858754	0.00092	T	0.034013	0.55387	D	0.087	0.25287	.	.	0.357313475932	0.35345	0.2079186863380569	0.20707	0.141752327491	0.15974	0.37554037571	0.21623	T	0.008044	0.07400	T	-0.474907	0.00793	T	-0.451501	0.27532	T	0.0253299986420487	0.01317	T	0.730627	0.34984	T	0.068926334	0.15058	0.096360244	0.22893	0.068926334	0.15058	0.096360244	0.22892	-2.384	0.05035	T	.	.	0.075	0.06024	B	.;.;.	.;.;.	1.002521	0.13811	10.36	0.90447033053664116	0.19706	0.97270	0.73702	D	AEFBI	0.360076	0.45017	N	-0.26145278417615	0.30648	1.710922	-0.104933679933923	0.35191	2.033044	0.999965813416213	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.143000	0.31164	0.556000	0.19466	0.599000	0.40250	0.588000	0.27650	0.067000	0.22148	0.037000	0.13953	0.0:1.0:0.0:0.0	19.683	0.95968	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	988.83	69	chr3	17161154	.	C	T	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.08;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.697;SOR=0.715	GT:AD:DP:GQ:PL	0/1:33,36:69:99:999,0,684	5	0	1	0
chr3	19975621	19975621	G	C	exonic	RAB5A	.	nonsynonymous SNV	RAB5A:NM_004162:exon3:c.G184C:p.V62L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0457493110571	.	.	8.279e-06	0	0	0	0	0	0	6.092e-05	6.5e-06	1	154602	rs372972286	4.108e-06	4.104e-06	2.724e-06	5.505e-06	6.983e-05	1.48e-06	9.7e-07	3.004e-05	2.044e-05	0	0	0	0	0	0	0	0	6.983e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.07920	T	0.386	0.15698	T	0.0	0.02946	B	0.006	0.12133	B	0.000001	0.84330	D	0.053896	1	0.81001	D	1.16	0.29674	L	-1.36	0.80125	T	-1.59	0.38345	N	0.329	0.36989	-0.7475	0.58066	T	0.254	0.62394	T	9	0.31452176	0.48893	T	0.045749	0.62128	D	0.243	0.54921	0.596	0.72617	0.677993549393	0.67526	0.5792897054659412	0.57857	0.468442230762	0.46191	0.869643568993	0.92517	D	0.447943	0.79001	T	-0.0161139	0.49404	T	-0.160293	0.58325	T	0.482345963260983	0.31983	T	0.949005	0.80370	D	0.48599848	0.66262	0.30576816	0.56603	0.48599848	0.66263	0.30576816	0.56602	-8.466	0.64204	D	.	.	0.341	0.55978	A	.	.	4.815953	0.78386	26.9	0.988677309394833	0.47580	0.99473	0.96463	D	AEFGBI	0.900748	0.84664	D	-0.0473166184580799	0.39722	2.347077	0.200785030940442	0.49890	3.187054	0.999998817167295	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	7.964000	0.87485	9.970000	0.82855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.135	0.93407	773	0.48803	Small GTP-binding 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	.	.	.	.	.	.	.	.	0.08333	698.83	56	chr3	19975621	.	G	C	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.108;DP=233;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.311;SOR=1.022	GT:AD:DP:GQ:PL	0/1:28,28:56:99:709,0,741	5	0	1	0
chr3	37417354	37417354	C	T	exonic	C3orf35	.	stopgain	C3orf35:NM_178344:exon4:c.C88T:p.R30X,C3orf35:NM_001302831:exon5:c.C88T:p.R30X,C3orf35:NM_001302832:exon5:c.C88T:p.R30X,C3orf35:NM_178339:exon5:c.C88T:p.R30X,C3orf35:NM_178342:exon5:c.C88T:p.R30X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	9.942e-05	0.0002	0.0002	0	0	7.493e-05	0	0.0002	0.0001164	18	154602	rs199499167	0.0001	8.824e-05	9.133e-05	0.0001	0.0020	8.923e-05	8.38e-05	0.0010	0.0008	0.0006	0.0001	0	0	0	0.0020	6.814e-05	0.0003	0.0002	0.0001	0.0001	0.0001	9.403e-05	0.0002	7.575e-05	6.28e-05	9.548e-05	6.95e-05	0.0002	0	6.536e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1539.83	118	chr3	37417354	.	C	T	1539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.701;DP=299;ExcessHet=0;FS=0.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.98;SOR=0.561	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1550,0,1641	5	0	1	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	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	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.08333	1750.83	131	chr3	38122376	.	C	T	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.341;DP=311;ExcessHet=0;FS=6.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.714;SOR=0.685	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1761,0,1622	5	0	1	0
chr3	40251911	40251911	C	T	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon14:c.C1898T:p.T633I,MYRIP:NM_001284424:exon15:c.C2264T:p.T755I,MYRIP:NM_001284425:exon15:c.C2192T:p.T731I,MYRIP:NM_001284423:exon16:c.C2459T:p.T820I,MYRIP:NM_015460:exon16:c.C2459T:p.T820I	.	.	.	.	.	.	.	.	.	.	.	2334866	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.030358099701	0.0002	.	0.0004	9.639e-05	0	0	0.0002	0.0007	0.0011	6.071e-05	0.0003493	54	154602	rs200695832	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	2.989e-05	0	0.0050	0	5.616e-05	0.0007	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.408e-05	0	0	0.0043	0	0.0002	0	0.0002	0	0.0002	0.011	0.55530	D	0.152	0.56192	T	0.939	0.52645	P	0.602	0.50862	P	0.036655	0.24496	N	0.366435	1	0.08975	N	2.24	0.63355	M	1.8	0.25344	T	-1.48	0.38734	N	0.279	0.35088	-1.0764	0.08063	T	0.069	0.28313	T	9	0.0058135986	0.00130	T	0.030358	0.52685	D	0.078	0.22779	.	.	0.413761986042	0.40994	0.3055684307077213	0.30469	0.297951249375	0.32171	0.374818205833	0.21520	T	0.018019	0.14600	T	-0.360525	0.04100	T	-0.456709	0.26959	T	0.2642542719841	0.23500	T	0.870213	0.60367	D	0.095432475	0.22459	0.08646066	0.20033	0.095432475	0.22459	0.08646066	0.20033	-4.032	0.29800	T	.	.	0.157	0.43517	B	.;.;.;.;.	.;.;.;.;.	3.176846	0.43108	21.7	0.9975127068479851	0.84305	0.13558	0.17924	N	AEFBI	0.268531	0.38500	N	-0.193437466759167	0.33407	1.894931	-0.288952555659863	0.28460	1.58711	0.00696120235995884	0.11352	0.706548	0.73137	0	0.610034	0.51514	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.97	1.79	0.23992	2.562000	0.45576	2.107000	0.30637	0.599000	0.40250	0.019000	0.19563	0.009000	0.19889	0.946000	0.48989	0.3949:0.4773:0.1279:0.0	9.815	0.40012	698	0.58074	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.08333	964.83	103	chr3	40251911	.	C	T	964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.011;DP=286;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-0.487;SOR=0.551	GT:AD:DP:GQ:PL	0/1:63,40:103:99:975,0,1725	5	0	1	0
chr3	46688207	46688207	C	A	exonic	ALS2CL	.	stopgain	ALS2CL:NM_001190707:exon3:c.G193T:p.E65X,ALS2CL:NM_147129:exon3:c.G193T:p.E65X	.	423	1082	15	2	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.00159744	0.0015	0.0003	0.0012	0	0	0.0017	0.0079	0.0032	0.00152	235	154602	rs139496961	0.0019	0.0019	0.0017	0.0020	0.0104	0.0018	0.0018	0.0083	0.0075	0.0003	0.0017	0.0012	0	5.73e-05	0.0104	0.0019	0.0022	0.0029	0.0014	0.0014	0.0013	0.0016	0.0039	0.0013	0.0012	0.0026	0.0021	0.0003	0	0.0011	0.0009	0	9.413e-05	0.0102	0.0022	0.0024	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	0.001327	0.39379	N	0.110650	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160521	0.70249	D	0.455064	0.93703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	6.794952	0.95745	35	0.99494895906249137	0.67687	0.27470	0.23286	N	AEFDBI	0.114883	0.22611	N	0.663916964200526	0.77271	6.642983	0.430586589897593	0.63477	4.582463	0.999994534518189	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.608524	0.38960	0	0.699875	0.68795	0	.	.	4.36	3.41	0.38145	0.556000	0.23144	1.166000	0.24589	0.549000	0.26987	0.384000	0.26039	0.614000	0.25782	0.648000	0.32638	0.0:0.7871:0.2129:0.0	9.642	0.39011	310	0.87484	.;.	.	.	.	.	.	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	0.008560	0.005051	0.005435	0.026316	0.000000	0.017241	0.006098	0.003788	0.08333	1752.83	137	chr3	46688207	.	C	A	1752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.116;DP=349;ExcessHet=0;FS=5.207;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.093;SOR=0.431	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1763,0,2188	5	0	1	0
chr3	46860742	46860742	G	A	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C241T:p.R81W	Cardiomyopathy, hypertrophic, 8	.	.	.	.	.	.	.	.	.	.	923221	Cardiomyopathy|Hypertrophic_cardiomyopathy_8|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.842	0.1888687965	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761891361	1.094e-05	1.094e-05	1.361e-05	8.25e-06	6.708e-05	6.48e-06	5.24e-06	1.779e-05	8.93e-06	0	6.708e-05	0	5.038e-05	0	0	8.093e-06	3.311e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.01	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000005	0.62929	D	0.000000	1	0.81001	D	4.47	0.98884	H	-2.08	0.86010	D	-7.23	0.94300	D	0.937	0.94432	0.812	0.94560	D	0.848	0.94923	D	10	0.98338246	0.98472	D	0.188869	0.86027	D	0.842	0.95063	0.92	0.98568	0.955057998241	0.95458	0.829547313322129	0.82912	1.13119082289	0.78624	0.816436767578	0.84481	D	0.862216	0.96953	D	0.25269	0.78852	D	0.322167	0.89180	D	0.902413326898361	0.55537	D	0.991044	0.97243	D	0.6560882	0.75689	0.3675849	0.62065	0.6560882	0.75691	0.3675849	0.62065	-12.052	0.85103	D	0.6545036669826321	0.72712	0.993	0.94573	P	.;.	.;.	5.084385	0.84876	28.4	0.99919594872627926	0.98654	0.87079	0.46512	D	AEFDBCI	0.945581	0.95405	D	0.760315366772861	0.83574	8.053476	0.61030675490734	0.75688	6.354885	0.999990555571936	0.74766	0.533608	0.22052	0	0.573078	0.20572	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	4.36	3.41	0.38145	0.725000	0.25638	2.292000	0.31965	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.6799:0.3201	9.190	0.36354	138	0.94518	EF-hand domain;EF-hand 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	.	.	.	.	.	.	.	.	0.08333	2946.83	217	chr3	46860742	.	G	A	2946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=397;ExcessHet=0;FS=1.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.123;SOR=0.777	GT:AD:DP:GQ:PL	0/1:105,112:217:99:2957,0,2504	5	0	1	0
chr3	47271415	47271415	C	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_022342:exon5:c.G413A:p.R138H,KIF9:NM_182902:exon5:c.G413A:p.R138H,KIF9:NM_001134878:exon6:c.G413A:p.R138H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0286015128626	.	.	8.268e-06	0	0	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs200343708	3.831e-05	3.831e-05	4.356e-05	3.3e-05	4.407e-05	3.025e-05	2.719e-05	3.373e-05	3.038e-05	2.987e-05	0	3.826e-05	2.519e-05	0	0	4.407e-05	6.623e-05	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.06	0.39575	T	0.333	0.28860	T	0.094	0.34173	B	0.053	0.29615	B	0.000042	0.53742	D	0.124687	0.99619	0.43068	D	2.14	0.59869	M	-0.97	0.75670	T	-2.74	0.58248	D	0.277	0.33030	-0.6218	0.63914	T	0.267	0.63865	T	10	0.33400357	0.50581	T	0.028602	0.51249	D	0.248	0.55615	0.58	0.70604	0.795758862108	0.79386	0.4502369623213205	0.44941	0.302362172283	0.32568	0.601016402245	0.53048	T	0.284042	0.65681	T	-0.100928	0.36271	T	-0.275095	0.47305	T	0.705424010753632	0.40978	D	0.90141	0.68156	D	0.43644387	0.63172	0.22112876	0.46913	0.43644387	0.63173	0.22112876	0.46912	-6.889	0.53218	T	.	.	0.091	0.23041	B	.;.;.;.	.;.;.;.	2.992113	0.39950	21.1	0.997323439198194	0.82833	0.56483	0.30129	D	AEFI	0.132662	0.25205	N	-0.0678562170929093	0.38809	2.27873	0.0583419171791293	0.42476	2.569868	0.999896051016046	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.33	4.46	0.53567	1.689000	0.37319	2.145000	0.30871	0.599000	0.40250	0.895000	0.31310	0.974000	0.29927	0.995000	0.73285	0.0:0.921:0.0:0.079	12.88	0.57402	15	0.98792	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1253.83	114	chr3	47271415	.	C	T	1253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.27;DP=291;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.217;SOR=0.919	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1264,0,1611	5	0	1	0
chr3	48662342	48662342	C	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.G293T:p.S98I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0536105211703	.	.	2.588e-05	0	0.0002	0	0	1.582e-05	0	0	1.94e-05	3	154602	rs199778842	2.464e-05	2.463e-05	2.588e-05	2.339e-05	6.708e-05	1.804e-05	1.601e-05	1.914e-05	1.661e-05	2.987e-05	6.708e-05	0	0	0	0	2.698e-05	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.033	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.52	0.70717	T	-0.74	0.20791	N	0.13	0.12484	-0.9482	0.41279	T	0.150	0.47663	T	9	0.06293896	0.08124	T	0.053611	0.65538	D	0.102	0.29158	0.206	0.12216	0.408804729114	0.40494	0.21573710852839337	0.21489	0.93195040475	0.71858	0.328371286392	0.14688	T	0.17803	0.52854	T	-0.237591	0.15658	T	-0.403212	0.33010	T	0.0404062061462881	0.03763	T	0.674733	0.28305	T	0.12991562	0.30328	0.10489305	0.25202	0.12991562	0.30328	0.10489305	0.25202	-5.604	0.42829	T	.	.	0.088	0.11845	B	.	.	1.114274	0.14994	11.50	0.94316839005808184	0.24640	0.06592	0.12607	N	AEFDBCI	0.091601	0.18554	N	-0.911588437545535	0.10569	0.5057382	-0.891762581189406	0.12288	0.6312534	0.999982041918513	0.51787	0.65757	0.49021	0	0.552344	0.17405	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	4.85	3.06	0.34374	-0.522000	0.06323	-0.131000	0.11618	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0:0.6716:0.156:0.1723	6.053	0.19022	3	0.99430	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1287.83	120	chr3	48662342	.	C	A	1287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=300;ExcessHet=0;FS=4.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.578;SOR=0.835	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1298,0,1767	5	0	1	0
chr3	49283991	49283991	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon18:c.A2395G:p.I799V,USP4:NM_003363:exon19:c.A2536G:p.I846V	.	426	1087	9	0	0	9	0.00412277	.	.	.	698169	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0052	0.00299521	0.0063	0.0013	0.0036	0	0.0112	0.0082	0.0110	0.0049	0.0060478	935	154602	rs41290700	0.0069	0.0069	0.0070	0.0068	0.0077	0.0068	0.0068	0.0076	0.0075	0.0011	0.0036	0.0023	0	0.0099	0.0050	0.0077	0.0056	0.0050	0.0054	0.0054	0.0056	0.0051	0.0083	0.0051	0.0050	0.0077	0.0075	0.0011	0.0110	0.0033	0.0014	0.0002	0.0104	0.0068	0.0083	0.0057	0.0035	0.279	0.18691	T	0.2	0.27591	T	0.0	0.02946	B	0.003	0.12992	B	0.000002	0.62929	N	0.097121	0.99999	0.58761	D	0.955	0.23872	L	1.4	0.33630	T	-0.38	0.13418	N	0.184	0.19995	-1.0640	0.10784	T	0.079	0.31284	T	10	0.0084604025	0.00192	T	.	.	.	0.067	0.19503	.	.	0.297718772494	0.29385	0.1139957832541632	0.11327	0.146708655971	0.16557	0.273526579142	0.06606	T	0.04674	0.27515	T	-0.511827	0.00490	T	-0.502149	0.22125	T	0.00516212371066622	0.00056	T	0.715328	0.32778	T	0.03580183	0.04282	0.043064065	0.05272	0.03580183	0.04282	0.043064065	0.05272	-3.906	0.23068	T	.	.	0.058	0.00614	B	.;.	.;.	1.401782	0.18160	13.58	0.94176356874001577	0.24394	0.82434	0.41662	D	AEFGBI	0.123664	0.23936	N	-0.176815557155269	0.34101	1.942459	-0.0947050296357837	0.35609	2.062162	0.98073264660507	0.30170	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	3.35	0.37468	1.852000	0.38988	-0.924000	0.06908	-0.967000	0.01957	0.963000	0.33788	0.000000	0.08366	0.706000	0.34326	0.0:0.5066:0.0:0.4934	4.762	0.12487	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	rs41290700	Likely benign	0	0	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	0.005539	0.010101	0.010870	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	774.83	79	chr3	49283991	.	T	C	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.909;SOR=0.725	GT:AD:DP:GQ:PL	0/1:47,32:79:99:785,0,1291	5	0	1	0
chr3	51778775	51778775	C	T	exonic	IQCF6	.	nonsynonymous SNV	IQCF6:NM_001143833:exon2:c.G172A:p.A58T,IQCF6:NM_001368368:exon2:c.G232A:p.A78T,IQCF6:NM_001368369:exon2:c.G289A:p.A97T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0066	0.00638978	0.0030	0.0242	0.0025	0	0	0.0014	0	0	0.0008732	135	154602	rs146499863	0.0011	0.0010	0.0012	0.0010	0.0247	0.0010	0.0010	0.0233	0.0227	0.0247	0.0015	0.0071	0.0003	0	0.0035	0.0003	0.0026	8.835e-05	0.0074	0.0074	0.0078	0.0070	0.0242	0.0070	0.0069	0.0229	0.0224	0.0242	0	0.0030	0.0072	0.0010	0	0.0068	0.0004	0.0071	0	0.089	0.32141	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	0.992732	0.23834	N	-0.55	0.02420	N	1.14	0.38397	T	-0.39	0.13611	N	0.253	0.28616	-1.0674	0.09994	T	0.026	0.10998	T	9	0.0057614446	0.00128	T	.	.	.	0.133	0.36157	.	.	0.0482279557977	0.04254	0.1723897203854799	0.17158	.	.	0.368216991425	0.20575	T	0.004895	0.04311	T	-0.464583	0.00920	T	-0.419846	0.31093	T	0.0161842164319878	0.00393	T	0.422958	0.11265	T	0.048636805	0.08509	0.08729215	0.20281	0.048636805	0.08509	0.08729215	0.20281	-4.013	0.23998	T	.	.	0.094	0.17488	B	.;.	.;.	3.110293	0.41948	21.4	0.99736456369440218	0.83192	0.31413	0.24331	N	AEFBI	0.061384	0.11733	N	-0.193608400254742	0.33400	1.894448	-0.0693405473204214	0.36664	2.136658	4.89096717152432E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.95	0.33285	0.544000	0.22960	1.028000	0.23458	0.599000	0.40250	0.973000	0.34540	0.892000	0.27844	0.999000	0.91618	0.0:0.7687:0.0:0.2313	6.117	0.19350	51	0.97631	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.005263	0.008475	0.004587	0.000000	0.000000	0.000000	0.000000	0.08333	1198.83	116	chr3	51778775	.	C	T	1198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.132;DP=295;ExcessHet=0;FS=3.48;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.379;SOR=1.022	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1209,0,2022	5	0	1	0
chr3	51944522	51944522	A	G	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.A445G:p.K149E,PARP3:NM_001370240:exon4:c.A445G:p.K149E,PARP3:NM_005485:exon4:c.A445G:p.K149E,PARP3:NM_001370239:exon5:c.A445G:p.K149E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0326800334233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.92824	D	0.999	0.77913	D	0.977	0.78936	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.095	0.58118	M	1.76	0.25996	T	-3.55	0.73477	D	0.818	0.82862	-0.8282	0.53416	T	0.162	0.49814	T	10	0.7009835	0.72442	D	0.03268	0.54438	D	0.381	0.69863	0.643	0.78010	0.72607089365	0.72364	0.9010261568956541	0.90074	0.430820528988	0.43310	0.563263177872	0.47727	T	0.242769	0.61157	T	0.104439	0.64769	D	-0.0877568	0.64331	T	0.985243263618987	0.76296	D	0.866813	0.56740	D	0.70607823	0.78391	0.7134899	0.83093	0.70607823	0.78392	0.7134899	0.83094	-11.737	0.84414	D	.	.	0.374	0.61280	A	.;.;.;.	.;.;.;.	3.902358	0.56852	23.8	0.99758800946546633	0.84851	0.98837	0.87508	D	AEFBI	0.919049	0.88900	D	0.667071233100133	0.77478	6.682301	0.596934965364539	0.74718	6.185169	0.99999999999854	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	5.23	0.72570	9.006000	0.93125	9.111000	0.78806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	1.0:0.0:0.0:0.0	15.128	0.72177	266	0.89551	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1516.83	112	chr3	51944522	.	A	G	1516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.614;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.71;SOR=0.675	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1527,0,1371	5	0	1	0
chr3	52818115	52818115	G	A	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon18:c.C2143T:p.R715W,ITIH4:NM_002218:exon20:c.C2233T:p.R745W	.	.	.	.	.	.	.	.	.	.	.	795458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00854571585155	0.0006	0.000399361	0.0006	0.0002	0.0006	0.0001	0	0.0009	0	0	0.0006209	96	154602	rs145279742	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0012	0.0012	0.0002	0.0009	0	2.519e-05	5.62e-05	0.0007	0.0012	0.0009	6.957e-05	0.0008	0.0008	0.0009	0.0008	0.0018	0.0007	0.0007	0.0013	0.0011	0.0003	0	0.0018	0	0.0004	0	0.0034	0.0012	0.0024	0.0002	0.087	0.43393	T	0.113	0.36901	T	0.001	0.07471	B	0.001	0.04355	B	0.006299	0.01119	N	2.778030	1	0.08975	N	1.59	0.40313	L	4.93	0.01404	T	-2.91	0.63438	D	0.184	0.23632	-0.9183	0.45783	T	0.006	0.02055	T	10	0.017233312	0.00367	T	0.008546	0.22606	T	0.100	0.28662	.	.	0.516884031612	0.51331	0.5137581172329816	0.51297	0.283962820196	0.30830	0.183320507407	0.00128	T	0.666521	0.90054	D	-0.540755	0.00332	T	-0.605881	0.12321	T	0.0283074509179369	0.01732	T	0.788921	0.42853	T	0.076019794	0.17165	0.07195286	0.15466	0.076019794	0.17164	0.07195286	0.15465	-5.164	0.38574	T	0.4387563528518042	0.52464	0.099	0.24464	B	.;.;.	.;.;.	2.462915	0.31732	18.83	0.98786306322344553	0.46222	0.08813	0.14686	N	AEFDGBI	0.382141	0.46414	N	-0.794448428190182	0.13453	0.6628846	-0.80255283232524	0.14434	0.7541432	0.988389334959233	0.31499	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.8	0.552	0.16419	0.448000	0.21443	2.380000	0.32481	0.676000	0.76740	0.001000	0.13787	0.994000	0.32194	0.717000	0.34675	0.093:0.1618:0.413:0.3322	2.638	0.04663	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1100.83	126	chr3	52818115	.	G	A	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.068;DP=334;ExcessHet=0;FS=4.448;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.726;SOR=0.859	GT:AD:DP:GQ:PL	0/1:78,48:126:99:1111,0,2033	5	0	1	0
chr3	53808712	53808712	C	T	exonic	CACNA1D	.	nonsynonymous SNV	CACNA1D:NM_001128839:exon44:c.C5741T:p.P1914L,CACNA1D:NM_001128840:exon46:c.C5813T:p.P1938L,CACNA1D:NM_000720:exon47:c.C5873T:p.P1958L	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	496308	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0137582668619	.	.	1.654e-05	0	0	0.0001	0	1.506e-05	0	0	1.29e-05	2	154602	rs770886605	2.745e-05	3.01e-05	3.279e-05	2.207e-05	0.0002	2.069e-05	1.822e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	5.038e-05	0	0.0002	2.338e-05	1.657e-05	0	6.571e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	0.144	0.36765	T	0.0	0.15914	B	0.001	0.16012	B	0.105917	0.19637	N	0.466719	0.99841	0.47904	D	1.495	0.37439	L	0.27	0.59176	T	-0.76	0.24244	N	0.234	0.26354	-0.9364	0.43180	T	0.171	0.51213	T	10	0.07130602	0.10493	T	0.013758	0.33405	T	0.146	0.38789	0.139	0.04277	0.276254252017	0.27237	0.36520881171038094	0.36434	0.377305161825	0.39170	0.337217837572	0.16021	T	0.110448	0.42514	T	-0.438422	0.01321	T	-0.598239	0.12959	T	0.0212540858562242	0.00827	T	0.777122	0.41012	T	0.026773239	0.01778	0.04181662	0.04840	0.024458313	0.01279	0.041973922	0.04894	-4.551	0.31856	T	.	.	0.098	0.16929	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.402171	0.18166	13.58	0.15310641317232221	0.00370	0.54667	0.29672	D	AEFDBCI	0.366891	0.45455	N	-0.64235102768726	0.17683	0.9120271	-0.63139198742616	0.18688	0.9994624	0.999999814185904	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.74	3.93	0.44666	2.628000	0.46143	1.101000	0.24069	-0.173000	0.11020	0.369000	0.25916	0.001000	0.17328	0.019000	0.11356	0.0:0.8598:0.0:0.1402	12.248	0.53898	542	0.72843	Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	812.83	62	chr3	53808712	.	C	T	812.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.258;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.168;SOR=0.627	GT:AD:DP:GQ:PL	0/1:28,34:62:99:823,0,698	5	0	1	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I,PXK:NM_001349525:exon13:c.A1010T:p.N337I,PXK:NM_001349526:exon13:c.A1010T:p.N337I,PXK:NM_001349532:exon13:c.A1010T:p.N337I,PXK:NM_001349533:exon13:c.A1010T:p.N337I,PXK:NM_001349534:exon13:c.A1010T:p.N337I,PXK:NM_001349535:exon13:c.A1010T:p.N337I,PXK:NM_001349536:exon13:c.A1010T:p.N337I,PXK:NM_001349537:exon13:c.A1010T:p.N337I,PXK:NM_001349538:exon13:c.A1010T:p.N337I,PXK:NM_001349539:exon13:c.A1010T:p.N337I,PXK:NM_001349540:exon13:c.A1010T:p.N337I,PXK:NM_001289096:exon14:c.A1322T:p.N441I,PXK:NM_001289100:exon14:c.A1322T:p.N441I,PXK:NM_001349490:exon14:c.A1322T:p.N441I,PXK:NM_001349500:exon14:c.A1322T:p.N441I,PXK:NM_001349522:exon14:c.A1322T:p.N441I,PXK:NM_001349524:exon14:c.A1322T:p.N441I,PXK:NM_001289095:exon15:c.A1370T:p.N457I,PXK:NM_001349491:exon15:c.A1010T:p.N337I,PXK:NM_001349494:exon15:c.A1373T:p.N458I,PXK:NM_001349495:exon15:c.A1373T:p.N458I,PXK:NM_001349496:exon15:c.A1370T:p.N457I,PXK:NM_001349497:exon15:c.A1370T:p.N457I,PXK:NM_001349501:exon15:c.A1373T:p.N458I,PXK:NM_001349502:exon15:c.A1370T:p.N457I,PXK:NM_001349510:exon15:c.A1373T:p.N458I,PXK:NM_001349511:exon15:c.A1373T:p.N458I,PXK:NM_001349512:exon15:c.A1373T:p.N458I,PXK:NM_001349514:exon15:c.A1370T:p.N457I,PXK:NM_001349515:exon15:c.A1370T:p.N457I,PXK:NM_001349516:exon15:c.A1373T:p.N458I,PXK:NM_001349517:exon15:c.A1370T:p.N457I,PXK:NM_001349518:exon15:c.A1370T:p.N457I,PXK:NM_001289098:exon16:c.A1421T:p.N474I,PXK:NM_001289099:exon16:c.A1172T:p.N391I,PXK:NM_001349488:exon16:c.A1421T:p.N474I,PXK:NM_001349492:exon16:c.A1421T:p.N474I,PXK:NM_001349493:exon16:c.A1421T:p.N474I,PXK:NM_001349498:exon16:c.A1361T:p.N454I,PXK:NM_001349499:exon16:c.A1421T:p.N474I,PXK:NM_001349503:exon16:c.A1421T:p.N474I,PXK:NM_001349504:exon16:c.A1421T:p.N474I,PXK:NM_001349506:exon16:c.A1421T:p.N474I,PXK:NM_001349507:exon16:c.A1421T:p.N474I,PXK:NM_001349508:exon16:c.A1421T:p.N474I,PXK:NM_001349509:exon16:c.A1421T:p.N474I,PXK:NM_001349519:exon16:c.A1421T:p.N474I,PXK:NM_001349520:exon16:c.A1421T:p.N474I,PXK:NM_001349527:exon16:c.A1421T:p.N474I,PXK:NM_017771:exon16:c.A1421T:p.N474I,PXK:NM_001349489:exon17:c.A1172T:p.N391I,PXK:NM_001349513:exon17:c.A1172T:p.N391I,PXK:NM_001349521:exon17:c.A1172T:p.N391I,PXK:NM_001349528:exon17:c.A1172T:p.N391I,PXK:NM_001349529:exon17:c.A1172T:p.N391I,PXK:NM_001349530:exon17:c.A1172T:p.N391I,PXK:NM_001349531:exon17:c.A1172T:p.N391I	.	425	1006	84	7	0	98	0.0464455	.	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	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	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.037261	0.020202	0.027174	0.046784	0.000000	0.051724	0.051829	0.053030	0.1667	2725.04	93	chr3	58410115	.	A	T	2725.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.3;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2745,278,0	5	1	0	0
chr3	66380720	66380720	T	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.A1910T:p.D637V,LRIG1:NM_001377348:exon11:c.A1883T:p.D628V,LRIG1:NM_001377349:exon11:c.A1628T:p.D543V,LRIG1:NM_001377344:exon17:c.A2837T:p.D946V,LRIG1:NM_001377345:exon18:c.A2132T:p.D711V,LRIG1:NM_001377346:exon18:c.A2132T:p.D711V,LRIG1:NM_015541:exon18:c.A2912T:p.D971V	.	430	1089	3	0	0	3	0.00137552	.	.	.	2827545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0658368901097	0.0007	0.000798722	0.0009	9.641e-05	0.0010	0	0	0.0014	0.0044	0.0002	0.0008732	135	154602	rs140085866	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0012	0.0012	0.0001	0.0011	0.0028	0	7.49e-05	0.0007	0.0012	0.0013	0.0003	0.0008	0.0008	0.0008	0.0008	0.0015	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0015	0.0040	0	0	0	0.0011	0.0014	0	0.463	0.10148	T	0.301	0.20293	T	0.259	0.31472	B	0.081	0.31021	B	0.355172	0.13754	N	0.713556	0.997236	0.81001	N	1.935	0.51832	L	-0.19	0.65931	T	-1.32	0.32991	N	0.326	0.36674	-0.9774	0.35593	T	0.131	0.44188	T	10	0.00498116	0.00107	T	0.065837	0.69696	D	0.102	0.29158	.	.	0.28494636882	0.28116	0.05495429076927835	0.05436	0.153582807233	0.17329	0.304059147835	0.11009	T	0.129388	0.45764	T	-0.383311	0.02969	T	-0.358755	0.38196	T	0.0535678247605584	0.06117	T	.	.	.	0.09417939	0.22137	0.06656466	0.13653	0.09417939	0.22137	0.06656466	0.13653	-3.031	0.10519	T	.	.	0.137	0.45507	B	.;.	.;.	1.066263	0.14482	11.05	0.75068754108112168	0.10933	0.37031	0.25669	N	AEFDBHCI	0.112128	0.22175	N	-0.584746812906404	0.19407	1.015474	-0.56193019456184	0.20490	1.104139	0.999999999745323	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	0.820000	0.26979	0.031000	0.13732	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	13.597	0.61465	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	4845.04	142	chr3	66380720	.	T	A	4845.04	.	AC=2;AF=0.167;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.12;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4865,426,0	5	1	0	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	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,9:77:99:0|1:75730450_C_T:173,0,2808:75730450	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,14:106:99:0|1:75736884_G_GA:311,0,3801:75736884	1	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,14:110:99:0|1:75736884_G_GA:299,0,3931:75736884	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,11:114:99:0|1:75736920_C_A:152,0,4284:75736920	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,12:115:99:0|1:75736920_C_A:194,0,4279:75736920	0	0	6	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	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,15:144:99:0|1:75737092_C_T:242,0,5364:75737092	0	0	6	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	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,15:146:99:0|1:75737092_C_T:236,0,5448:75737092	0	0	6	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	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,16:141:99:0|1:75737092_C_T:296,0,5201:75737092	0	0	6	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	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,16:142:99:0|1:75737092_C_T:293,0,5243:75737092	0	0	6	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	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,10:126:71:0|1:75737092_C_T:71,0,4817:75737092	0	0	6	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	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:96,29:125:99:919,0,3777	0	0	6	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	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,31:138:99:0|1:75737590_A_G:959,0,4335:75737590	0	0	6	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	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,27:132:99:0|1:75737590_A_G:818,0,4328:75737590	0	0	6	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	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,29:137:99:0|1:75737590_A_G:893,0,4448:75737590	0	0	6	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	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,25:128:99:0|1:75737590_A_G:740,0,4250:75737590	0	0	6	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	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,19:113:99:0|1:75737590_A_G:515,0,3890:75737590	0	0	6	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,9:130:16:0|1:75737814_C_T:16,0,4601:75737814	0	0	5	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	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:36,7:43:60:60,0,1067	0	0	6	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	38.84	144	chr3	97876679	.	G	A	38.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.346;DP=535;ExcessHet=0;FS=158.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.3;SOR=7.941	GT:AD:DP:GQ:PL	0/1:110,29:144:49:49,0,2445	5	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.08333	2282.83	204	chr3	98283014	.	A	G	2282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.125;DP=493;ExcessHet=0;FS=3.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.373;SOR=0.473	GT:AD:DP:GQ:PL	0/1:109,95:204:99:2293,0,2889	5	0	1	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.030303	0.031250	0.017544	0.050000	0.043103	0.018293	0.026515	0.25	3499.0	89	chr3	119191045	.	A	G	3499.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.149;DP=346;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.242;SOR=0.664	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2458,267,0	4	1	1	0
chr3	121698889	121698889	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.C1394G:p.A465G,GOLGB1:NM_001366283:exon12:c.C1511G:p.A504G,GOLGB1:NM_001366284:exon12:c.C1394G:p.A465G,GOLGB1:NM_001256486:exon13:c.C1634G:p.A545G,GOLGB1:NM_001256487:exon13:c.C1517G:p.A506G,GOLGB1:NM_001366282:exon13:c.C1634G:p.A545G,GOLGB1:NM_004487:exon13:c.C1619G:p.A540G	.	444	1068	10	0	0	10	0.00465983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00259585	0.0019	0.0002	0.0003	0	0	0.0003	0.0023	0.0129	0.0015977	247	154602	rs201931896	0.0008	0.0008	0.0005	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	6.135e-05	0.0003	0.0004	0	0	0.0027	9.958e-05	0.0008	0.0110	0.0004	0.0004	0.0003	0.0006	0.0090	0.0004	0.0003	0.0068	0.0061	9.672e-05	0	6.569e-05	0.0003	0	0	0.0034	0.0002	0.0009	0.0090	0.138	0.26965	T	0.096	0.39340	T	0.019	0.27347	B	0.033	0.25678	B	0.008537	0.01209	N	2.551320	1	0.08975	N	1.79	0.46772	L	2.44	0.24656	T	-1.23	0.31170	N	0.044	0.02759	-0.9895	0.32727	T	0.092	0.35010	T	10	0.0055116713	0.00122	T	.	.	.	0.140	0.37593	.	.	0.409800938858	0.40592	0.055963666282335456	0.05537	0.104334685682	0.11803	0.229549348354	0.01935	T	0.017607	0.14333	T	-0.540753	0.00332	T	-0.539143	0.18380	T	0.00603764417651314	0.00066	T	0.609739	0.23774	T	0.035927054	0.04322	0.05874691	0.10910	0.035927054	0.04322	0.05874691	0.10909	-3.703	0.19643	T	.	.	0.098	0.17573	B	.;.;.;.	.;.;.;.	0.824074	0.11954	8.514	0.50764531149210801	0.04442	0.19297	0.20606	N	AEFBI	0.058137	0.10885	N	-0.522569134731959	0.21351	1.132484	-0.675429195802025	0.17576	0.935173	0.0430115102109138	0.14551	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	-0.137	0.12811	0.717000	0.25523	1.434000	0.26471	0.676000	0.76740	0.013000	0.18845	0.001000	0.17328	0.120000	0.19168	0.1727:0.1466:0.38:0.3008	1.241	0.01845	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	0.003528	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.1667	1130.04	33	chr3	121698889	.	G	C	1130.04	.	AC=2;AF=0.167;AN=12;DP=228;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.24;SOR=1.542	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1150,99,0	5	1	0	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	.	.	.	.	.	.	.	.	0.3333	341.96	59	chr3	128055734	.	T	C	341.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.037;DP=303;ExcessHet=3.1439;FS=106.99;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=0.655;SOR=7.35	GT:AD:DP:GQ:PL	0/1:47,12:59:66:66,0,953	2	0	4	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	961.52	32	chr3	130421335	.	G	C	961.52	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.175;DP=236;ExcessHet=1.383;FS=182.965;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.188;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,9:32:99:0|1:130421335_G_C:186,0,750:130421335	2	0	2	2
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1026.26	32	chr3	130421337	.	T	C	1026.26	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.712;DP=234;ExcessHet=1.383;FS=182.965;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.211;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,9:32:99:0|1:130421335_G_C:186,0,750:130421335	1	0	3	2
chr3	154324278	154324278	G	C	exonic	DHX36	.	nonsynonymous SNV	DHX36:NM_001114397:exon1:c.C139G:p.R47G,DHX36:NM_020865:exon1:c.C139G:p.R47G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.27985049271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.24e-05	0	0	.	.	0	2.24e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08813	T	0.435	0.13518	T	0.987	0.64738	D	0.931	0.72001	D	0.026286	0.25944	N	0.390745	0.989708	0.41006	D	0.3	0.10203	N	-0.98	0.75789	T	0.59	0.02853	N	0.359	0.42247	-0.5656	0.66189	T	0.335	0.70215	T	10	0.3041029	0.47937	T	0.27985	0.90191	D	0.297	0.61730	0.416	0.45544	0.862312876497	0.86098	0.25086495178912316	0.25000	0.524322996991	0.50117	0.841920077801	0.88388	D	0.014151	0.12104	T	-0.000585855	0.51575	T	-0.238618	0.50933	T	0.594643235206604	0.36189	D	0.478452	0.14421	T	0.09364311	0.21999	0.09314471	0.21986	0.09364311	0.21999	0.09314471	0.21985	-0.813	0.00823	T	.	.	0.065	0.25034	B	.;.;.	.;.;.	2.790257	0.36673	20.3	0.94774915761738487	0.25499	0.24550	0.22428	N	AEFDGBHCI	0.242100	0.36361	N	0.14289450119773	0.48476	3.059427	0.136942533009273	0.46454	2.891119	0.999999999999435	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.33	3.33	0.37245	0.831000	0.27129	5.126000	0.47622	0.676000	0.76740	0.751000	0.29144	1.000000	0.68203	0.804000	0.37906	0.0:0.0:1.0:0.0	10.434	0.43610	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1667.83	127	chr3	154324278	.	G	C	1667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=305;ExcessHet=0;FS=3.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.235;SOR=1.081	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1678,0,1697	5	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	406.71	101	chr3	155853645	.	G	A	406.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.691;DP=499;ExcessHet=0.4139;FS=320.33;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=2.57;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,30:101:99:0|1:155853644_G_C:239,0,1976:155853644	2	0	2	2
chr3	168024558	168024558	C	T	exonic	GOLIM4	.	nonsynonymous SNV	GOLIM4:NM_001308155:exon13:c.G1744A:p.D582N,GOLIM4:NM_014498:exon14:c.G1828A:p.D610N	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0156509893341	0.0002	.	9.069e-05	0	0	0	0	0.0001	0	6.06e-05	7.12e-05	11	154602	rs145555095	3.558e-05	3.557e-05	2.86e-05	4.264e-05	0.0002	2.763e-05	2.502e-05	3e-05	2.672e-05	0	2.236e-05	0	0	0	0.0002	3.959e-05	6.625e-05	2.319e-05	3.288e-05	3.284e-05	1.286e-05	5.384e-05	6.556e-05	1.262e-05	7.98e-06	1.171e-05	6.25e-06	2.414e-05	0	6.556e-05	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.015	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.25	0.63811	M	.	.	.	-2.34	0.56301	N	0.599	0.64478	-0.3965	0.72138	T	0.437	0.77689	T	9	0.7207707	0.73647	D	0.015651	0.36500	T	0.278	0.59497	.	.	0.690638299042	0.68798	0.07927601705768464	0.07862	0.44446215622	0.44356	0.725114822388	0.70793	T	0.13914	0.47301	T	-0.199582	0.20866	T	-0.269416	0.47877	T	0.30120703163499	0.25054	T	0.943306	0.78595	D	0.4497946	0.64028	0.4705324	0.69298	0.4497946	0.64028	0.4705324	0.69298	-4.081	0.25009	T	.	.	0.312	0.55445	B	.;.	.;.	5.087910	0.84947	28.5	0.99898830190482446	0.97124	0.96931	0.71725	D	AEFDGBCI	0.914367	0.87762	D	0.60085677045361	0.73229	5.932126	0.541326930173707	0.70795	5.558129	0.999999999999999	0.74766	0.730579	0.87903	0	0.653731	0.59785	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.65	5.65	0.86881	6.338000	0.72914	7.719000	0.67224	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	19.792	0.96457	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1381.83	104	chr3	168024558	.	C	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.21;DP=274;ExcessHet=0;FS=2.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.784;SOR=0.566	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1392,0,1356	5	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	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	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.08333	2042.83	134	chr3	175097119	.	G	A	2042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.659;DP=533;ExcessHet=0;FS=3.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.253;SOR=0.444	GT:AD:DP:GQ:PL	0/1:55,79:134:99:2053,0,1333	5	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.08333	511.83	26	chr3	179240022	.	T	C	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.377;DP=177;ExcessHet=0;FS=1.757;MLEAC=1;MLEAF=0.083;MQ=58.88;MQRankSum=0.662;QD=19.69;ReadPosRankSum=-0.696;SOR=1.23	GT:AD:DP:GQ:PL	0/1:8,18:26:99:522,0,202	5	0	1	0
chr3	184233620	184233620	T	G	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon4:c.T575G:p.L192R	.	.	.	.	.	.	.	.	.	.	.	2346750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0257977547289	.	.	0.0005	0	0	0	0	0	0	0.0012	6.47e-05	10	154602	rs776643359	5.862e-05	5.609e-05	3.95e-05	7.826e-05	0.0009	4.817e-05	4.427e-05	0.0008	0.0007	0	0	0	0	0	0.0004	4.634e-06	3.449e-05	0.0009	4.6e-05	4.596e-05	1.285e-05	8.072e-05	0.0014	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.562	0.06341	T	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.08	0.61559	T	-0.46	0.14978	N	0.258	0.29197	-1.0508	0.14175	T	0.074	0.29834	T	9	0.015666753	0.00329	T	0.025798	0.48750	D	0.097	0.27909	0.417	0.45709	0.233785782151	0.22967	0.4764701632773718	0.47567	0.944440780139	0.72360	0.419413387775	0.27756	T	.	.	.	-0.3698	0.03604	T	-0.376773	0.36099	T	0.0183062336743064	0.00549	T	0.560444	0.19591	T	0.087316155	0.20328	0.07519121	0.16528	0.087316155	0.20328	0.07519121	0.16528	-3.121	0.11539	T	.	.	0.069	0.03026	B	.	.	0.849027	0.12210	8.756	0.96447385758919524	0.29851	0.32955	0.24711	N	AEFDGBI	0.300533	0.40929	N	-0.869979112437357	0.11561	0.5586024	-0.880253348148952	0.12562	0.6469135	0.158099170044526	0.17549	0.497415	0.19182	0	0.59043	0.45803	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	3.84	-1.79	0.07504	-0.143000	0.10278	-0.798000	0.07386	0.665000	0.62972	0.011000	0.18532	0.000000	0.08366	0.963000	0.52385	0.1947:0.373:0.0:0.4324	3.232	0.06354	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	460.83	45	chr3	184233620	.	T	G	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.904;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.151;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,18:45:99:0|1:184233620_T_G:471,0,784:184233620	5	0	1	0
chr3	185428593	185428593	T	G	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_004721:exon2:c.T12G:p.F4L,MAP3K13:NM_001242314:exon3:c.T12G:p.F4L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00219649	0.0009	0.0001	8.775e-05	0	0	0	0	0.0091	0.000815	126	154602	rs372148911	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	0	0	0.0004	2.736e-06	0.0006	0.0066	0.0002	0.0002	8.995e-05	0.0004	0.0071	0.0002	0.0001	0.0052	0.0046	0	0	0	0	0	0	0	0	0	0.0071	0.082	0.39575	T	0.246	0.33554	T	0.001	0.07471	B	0.001	0.04355	B	0.064024	0.21981	N	0.399981	1	0.81001	D	0	0.06538	N	1.02	0.74477	T	-0.91	0.24460	N	0.108	0.09349	-0.9357	0.43288	T	0.171	0.51309	T	10	0.0060169697	0.00135	T	.	.	.	0.108	0.30607	0.106	0.01810	0.645582888323	0.64264	0.09886918324242477	0.09817	0.117208668594	0.13211	0.424890577793	0.28509	T	0.018039	0.14613	T	-0.37628	0.03288	T	-0.310526	0.43601	T	0.0575131279618463	0.06771	T	0.731927	0.35599	T	0.0805983	0.18476	0.0908281	0.21322	0.0805983	0.18475	0.0908281	0.21322	-2.094	0.03558	T	.	.	0.255	0.49018	B	.;.;.;.	.;.;.;.	3.026506	0.40527	21.2	0.98494474586907621	0.42144	0.89079	0.49333	D	AEFBI	0.305876	0.41318	N	-0.348961987436027	0.27309	1.49736	-0.134788635808498	0.33998	1.950859	0.070671162277874	0.15537	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.61	4.46	0.53567	1.547000	0.35798	4.217000	0.42569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0719:0.1426:0.7855	7.470	0.26510	618	0.66225	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1614.83	123	chr3	185428593	.	T	G	1614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=311;ExcessHet=0;FS=0.686;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.278;SOR=0.805	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1625,0,1597	5	0	1	0
chr3	193448239	193448239	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon18:c.A2119G:p.I707V	.	419	1082	21	0	0	21	0.00961098	.	.	.	3199835	ATP13A4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0011	0.00798722	0.0053	0.0002	0.0016	0.0001	0	0.0015	0.0044	0.0316	0.0047541	735	154602	rs139578706	0.0028	0.0028	0.0020	0.0036	0.0284	0.0027	0.0027	0.0275	0.0271	0.0001	0.0015	0.0009	7.557e-05	0	0.0173	0.0011	0.0030	0.0284	0.0020	0.0020	0.0016	0.0025	0.0340	0.0019	0.0018	0.0297	0.0281	0.0001	0	0.0024	0.0006	0.0002	0	0.0204	0.0013	0.0024	0.0340	0.311	0.14064	T	0.311	0.19660	T	0.027	0.19556	B	0.038	0.23361	B	0.004371	0.33816	N	0.249276	0.96754	0.25844	N	0.965	0.23975	L	-0.25	0.67011	T	0.01	0.06868	N	0.326	0.37509	-0.9742	0.36301	T	0.092	0.34983	T	10	0.0068852603	0.00156	T	.	.	.	0.051	0.14325	.	.	0.630113592811	0.62709	0.14474421721900954	0.14397	0.137857802033	0.15542	0.44773003459	0.31633	T	0.306865	0.67905	T	-0.496828	0.00596	T	-0.464806	0.26078	T	0.0173163278083805	0.00471	T	0.375062	0.09032	T	0.12286591	0.28863	0.09017917	0.21131	0.12286591	0.28863	0.09017917	0.21131	-7.554	0.57989	D	.	.	0.073	0.04681	B	.;.	.;.	2.349307	0.30116	18.34	0.97513264720364456	0.34363	0.91546	0.53756	D	AEFBI	0.421381	0.48782	N	-0.202024640915687	0.33050	1.870798	-0.00907672235147589	0.39303	2.328322	0.507512550410884	0.20993	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.84	4.84	0.62125	2.637000	0.46219	1.888000	0.29498	0.665000	0.62972	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.540	0.61128	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	0	0	1	0	0.010070	0.000000	0.008152	0.017544	0.000000	0.017241	0.006098	0.018939	0.08333	879.83	60	chr3	193448239	.	T	C	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.714;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0.882;SOR=0.61	GT:AD:DP:GQ:PL	0/1:23,37:60:99:890,0,595	5	0	1	0
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13344.4	105	chr3	195779882	.	G	*	13344.4	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1398;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=59.1;MQRankSum=-0.328;QD=11.75;ReadPosRankSum=-0.314;SOR=0.69	GT:AD:DP:GQ:PL	1/1:11,94:105:27:3734,27,0	3	3	0	0
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780043	.	G	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1384;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.39;QD=2.66;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,92:261:99:.:.:3363,0,6630:.	4	0	2	0
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780046	.	A	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1380;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.21;QD=2.66;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,92:261:99:.:.:3363,0,6630:.	4	0	2	0
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2293.45	261	chr3	195780069	.	G	*	2293.45	.	AC=1;AF=0.1;AN=10;DP=1299;ExcessHet=0.5115;FS=1.408;MLEAC=1;MLEAF=0.1;MQ=56.77;QD=4.11;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,92:261:99:.:.:3363,0,6630:.	4	0	1	1
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2329.45	261	chr3	195780092	.	C	*	2329.45	.	AC=1;AF=0.1;AN=10;DP=1299;ExcessHet=0.5115;FS=0.647;MLEAC=1;MLEAF=0.1;MQ=56.55;QD=4.26;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,92:261:99:.:.:3363,0,6630:.	4	0	1	1
chr3	195780095	195780095	C	0	exonic	MUC4	.	.	.	.	511	588	3	0	420	423	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	716.96	261	chr3	195780095	.	C	*	716.96	.	AC=1;AF=0.1;AN=10;DP=1308;ExcessHet=0.5115;FS=0.66;MLEAC=1;MLEAF=0.1;MQ=56.28;QD=1.45;SOR=0.78	GT:AD:DP:GQ:PL	0/1:169,92:261:99:3363,0,6630	4	0	1	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22851.7	348	chr3	195781628	.	C	*	22851.7	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.53;DP=1844;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.05;MQRankSum=-0.65;QD=14.91;ReadPosRankSum=0.437;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,208:348:99:.:.:10894,4474,5135:.	3	0	3	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1662.49	263	chr3	195782558	.	A	*	1662.49	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.37;DP=1656;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.11;MQRankSum=-5.684;QD=1.7;ReadPosRankSum=2.21;SOR=0.663	GT:AD:DP:GQ:PL	1/0:58,94:263:99:5958,1675,7496	3	0	3	0
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	465	chr3	195783068	.	G	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.73;DP=1594;ExcessHet=0.2119;FS=5.987;MLEAC=2;MLEAF=0.25;MQ=44.17;MQRankSum=-0.606;QD=5.33;ReadPosRankSum=1.57;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:229,216:465:99:.:.:2415,0,7942:.	2	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	342	chr3	195783070	.	A	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.428;DP=1389;ExcessHet=0.2119;FS=4.902;MLEAC=2;MLEAF=0.25;MQ=53.48;MQRankSum=-0.606;QD=6.03;ReadPosRankSum=-0.244;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,222:342:99:.:.:2856,0,4531:.	2	0	2	2
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	11118.2	339	chr3	195783084	.	A	*	11118.2	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.568;DP=1362;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.54;MQRankSum=-0.512;QD=12.41;ReadPosRankSum=0.151;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,222:339:99:0|1:195783084_A_*:7746,4500,4554:195783084	5	0	1	0
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	11301.4	336	chr3	195783093	.	A	*	11301.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.787;DP=1416;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.1;MQ=56.8;MQRankSum=-1.666;QD=12.68;ReadPosRankSum=0.769;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,222:336:99:0|1:195783084_A_*:7680,4399,4323:195783084	4	0	1	1
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del,MUC4:NM_001322468:exon4:c.3675_3722del:p.G1230_A4615delinsDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	155.31	19	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T	155.31	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=82;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.36;MQRankSum=-0.698;QD=4.44;ReadPosRankSum=0.328;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:78,0,660:195787857	5	0	1	0
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	48.1	19	chr3	195787858	.	G	*	48.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=84;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.3;MQRankSum=0.712;QD=1.85;ReadPosRankSum=-0.524;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:78,0,660:195787857	5	0	1	0
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	196.14	19	chr3	195787862	.	C	*	196.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=87;ExcessHet=1.383;FS=2.534;MLEAC=1;MLEAF=0.1;MQ=36.6;MQRankSum=1.07;QD=4.56;ReadPosRankSum=0.182;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:78,0,660:195787857	4	0	1	1
chr3	195787863	195787863	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46.06	19	chr3	195787863	.	G	*	46.06	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=85;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.87;MQRankSum=-0.253;QD=1.92;ReadPosRankSum=0;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:78,0,660:195787857	5	0	1	0
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	182.73	19	chr3	195787897	.	T	*	182.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.47;DP=113;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.23;MQRankSum=0.108;QD=4.15;ReadPosRankSum=-0.372;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:78,0,660:195787857	5	0	1	0
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1197.51	644	chr3	195788132	.	T	*	1197.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=1208;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.78;MQRankSum=-5.041;QD=1.23;ReadPosRankSum=0.621;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:555,89:644:99:0|1:195788077_G_A:1661,0,22323:195788077	5	0	1	0
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	994.51	644	chr3	195788146	.	A	*	994.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.33;DP=1247;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.05;MQRankSum=-5.235;QD=0.98;ReadPosRankSum=-0.787;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:555,89:644:99:0|1:195788077_G_A:1661,0,22323:195788077	5	0	1	0
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	580.51	644	chr3	195788160	.	G	*	580.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.31;DP=1282;ExcessHet=1.383;FS=0.816;MLEAC=1;MLEAF=0.083;MQ=54.19;MQRankSum=-5.47;QD=0.56;ReadPosRankSum=-2.095;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:555,89:644:99:0|1:195788077_G_A:1661,0,22323:195788077	5	0	1	0
chr3	195789353	195789353	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T2227C:p.S743P,MUC4:NM_001322468:exon3:c.T2227C:p.S743P	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	.	0.00179712	0.0015	0.0001	0	0	0	7.492e-05	0	0.0110	0.001313	203	154602	rs534053468	0.0007	0.0007	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	2.987e-05	2.236e-05	0	0	0	0.0017	3.238e-05	0.0008	0.0100	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	2.41e-05	0	6.549e-05	0	0	0	0	5.883e-05	0	0.0075	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	0.265519	0.15229	N	0.545868	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.5	0.15782	N	0.23	0.31027	-0.9827	0.34375	T	0.138	0.45602	T	10	0.005982816	0.00134	T	.	.	.	0.150	0.39571	.	.	0.0297737177859	0.01360	0.09026114370699667	0.08959	.	.	0.339925587177	0.16426	T	.	.	.	-0.542526	0.00324	T	-0.542682	0.18033	T	0.0230595954178542	0.01031	T	0.480052	0.14488	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.35098	B	.;.	.;.	1.404083	0.18184	13.60	0.2585694510281496	0.01212	0.11591	0.16734	N	AEFBHCI	0.131682	0.25070	N	-0.66818821947173	0.16933	0.8670253	-0.92146212721303	0.11588	0.5912703	1.56405620008898E-4	0.05650	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.77	-1.84	0.07387	0.131000	0.15696	-0.096000	0.11999	-0.369000	0.05453	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.391:0.3861:0.0:0.2229	4.098	0.09475	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1541.83	84	chr3	195789353	.	A	G	1541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.094;DP=333;ExcessHet=0;FS=1.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.574;SOR=0.466	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1552,0,933	5	0	1	0
chr3	196208401	196208401	C	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon4:c.G568T:p.D190Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0110432125776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	0.975948	0.39232	D	2.38	0.68558	M	1.8	0.25344	T	-3.19	0.64593	D	0.526	0.55540	-0.9005	0.47942	T	0.151	0.47926	T	10	0.59015614	0.66334	D	0.011043	0.28250	T	0.240	0.54500	0.518	0.61915	0.219573609325	0.21563	0.6869458552945757	0.68634	1.0919349002	0.77461	0.471491217613	0.34886	T	0.007771	0.07155	T	0.131248	0.67482	D	-0.0492476	0.67073	D	0.960637986660004	0.65859	D	0.747125	0.36767	T	0.30726245	0.53548	0.45081574	0.68043	0.30726245	0.53548	0.45081574	0.68043	-6.231	0.48173	T	.	.	0.380	0.58440	A	.	.	4.175582	0.62817	24.5	0.98476963584122745	0.41931	0.75778	0.37120	D	ALL	0.190405	0.31764	N	0.476697325609573	0.65732	4.859636	0.388339731591329	0.60845	4.276857	0.999999999998731	0.74766	0.59774	0.34471	0	0.478664	0.06816	1	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.08	5.08	0.68373	1.653000	0.36940	3.933000	0.40549	0.581000	0.30040	0.920000	0.31959	0.999000	0.35428	0.007000	0.07825	0.0:1.0:0.0:0.0	13.839	0.62925	749	0.51929	Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1677.83	112	chr3	196208401	.	C	A	1677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.331;DP=287;ExcessHet=0;FS=2.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.05;SOR=0.447	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1688,0,1411	5	0	1	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.08333	1671.83	142	chr3	196886230	.	G	A	1671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.575;DP=321;ExcessHet=0;FS=2.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.289;SOR=0.626	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1682,0,2110	5	0	1	0
chr4	443714	443714	A	T	exonic	ZNF721	.	stopgain	ZNF721:NM_133474:exon3:c.T753A:p.C251X	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.805e-05	0	0	0	0	6.005e-05	0.0011	0.0001	5.82e-05	9	154602	rs782057251	5.61e-05	5.609e-05	6.262e-05	4.951e-05	0.0003	4.61e-05	4.236e-05	6.092e-05	4.028e-05	2.987e-05	4.473e-05	0	0	0	0.0003	5.576e-05	0.0001	8.116e-05	5.913e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.012	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196942	0.54339	T	-0.011844	0.69564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.817712	0.78441	26.9	0.97720829872358794	0.35555	0.00001	0.00044	N	AEFDGBHCI	0.028938	0.02640	N	-0.348576850923124	0.27324	1.498247	-0.791400706673585	0.14706	0.7697826	0.0591450231980989	0.15151	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.29	-1.29	0.08805	-0.488000	0.06578	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5971:0.0:0.4029:0.0	4.913	0.13185	912	0.21483	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	.	.	.	.	.	.	.	.	0.08333	1127.83	103	chr4	443714	.	A	T	1127.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=283;ExcessHet=0;FS=0.748;MLEAC=1;MLEAF=0.083;MQ=59.63;MQRankSum=-1.162;QD=10.95;ReadPosRankSum=-1.294;SOR=0.596	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1138,0,1774	5	0	1	0
chr4	1113412	1113412	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon1:c.C53G:p.S18W,RNF212:NM_001193318:exon1:c.C53G:p.S18W,RNF212:NM_001366918:exon1:c.C53G:p.S18W,RNF212:NM_001366919:exon1:c.C53G:p.S18W,RNF212:NM_194439:exon1:c.C53G:p.S18W	Recombination rate QTL 1	9	1506	7	0	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.942646195484	.	0.00119808	0.0012	0.0001	0.0003	0	0	0.0006	0.0024	0.0058	0.0009573	148	154602	rs201230381	0.0006	0.0007	0.0005	0.0008	0.0053	0.0006	0.0006	0.0049	0.0047	0.0002	0.0003	0	2.552e-05	0	0.0031	0.0004	0.0009	0.0053	0.0005	0.0005	0.0005	0.0004	0.0048	0.0004	0.0003	0.0033	0.0028	2.441e-05	0	0.0002	0	0	0	0	0.0006	0.0010	0.0048	0.016	0.68238	D	0.003	0.79402	D	0.999	0.77913	D	0.95	0.75477	D	0.033584	0.24878	U	0.195061	1	0.08975	N	1.79	0.46772	L	-3.11	0.92721	D	-2.55	0.55501	D	0.333	0.37405	0.103	0.84238	D	0.769	0.92157	D	10	0.01812753	0.00392	T	0.942646	0.99596	D	0.387	0.70358	.	.	0.94308573582	0.94249	0.342305281635144	0.34143	0.723625428405	0.62344	0.615534305573	0.55098	T	0.667352	0.90087	D	-0.224972	0.17318	T	-0.0945664	0.63815	T	0.0384888595322806	0.03420	T	0.812119	0.46890	T	0.12829687	0.29997	0.13990742	0.33367	0.12829687	0.29997	0.13990742	0.33366	-12.602	0.89694	D	.	.	0.273	0.69559	B	.;.;.	.;.;.	3.915812	0.57135	23.8	0.91049291499057239	0.20301	0.11889	0.16926	N	AEFDBHCI	0.190200	0.31743	N	-0.0828495216520019	0.38144	2.229623	-0.257578673122858	0.29510	1.653942	0.999999861993212	0.74766	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.43	2.69	0.30923	1.891000	0.39372	2.330000	0.32189	0.580000	0.29708	0.013000	0.18845	0.048000	0.21764	0.585000	0.31016	0.1887:0.0:0.8113:0.0	8.239	0.30810	874	0.30607	.;Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	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	0.002525	0.000000	0.000000	0.005882	0.000000	0.008621	0.000000	0.003788	0.08333	705.83	69	chr4	1113412	.	G	C	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.217;SOR=0.797	GT:AD:DP:GQ:PL	0/1:37,32:69:99:716,0,883	5	0	1	0
chr4	1655285	1655285	C	T	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.G575A:p.G192D,FAM53A:NM_001174070:exon4:c.G575A:p.G192D,FAM53A:NM_001297435:exon4:c.G575A:p.G192D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0138965567205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747258119	4.947e-05	4.994e-05	4.579e-05	5.337e-05	6.032e-05	3.951e-05	3.591e-05	4.801e-05	4.358e-05	0	0	0	0	0	0	6.032e-05	1.903e-05	0	1.971e-05	1.97e-05	2.569e-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	0.23	0.19293	T	0.147	0.32783	T	0.675	0.43659	P	0.154	0.34892	B	0.027437	0.25758	U	0.352612	0.988402	0.24414	N	1.245	0.31408	L	1.04	0.40218	T	-1.26	0.31778	N	0.241	0.27316	-1.0106	0.26729	T	0.079	0.31284	T	10	0.16265723	0.30479	T	0.013897	0.33646	T	0.068	0.19811	0.184	0.09259	0.290590437066	0.28656	0.18312300235652695	0.18231	0.129811716182	0.14634	0.741762459278	0.73233	T	0.00687	0.06296	T	-0.137808	0.30241	T	-0.435728	0.29288	T	0.427430719137192	0.29966	T	0.706729	0.31713	T	0.17028326	0.37594	0.26186287	0.51970	0.17028326	0.37593	0.26186287	0.51969	-4.2	0.26751	T	.	.	0.194	0.41511	B	.;.;.;.	.;.;.;.	2.381399	0.30571	18.48	0.98193365820135237	0.39053	0.93125	0.57392	D	AEFDBI	0.286144	0.39860	N	-0.205540491142311	0.32906	1.860976	-0.232229384059861	0.30388	1.710586	0.999999814361699	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	4.21	0.48984	2.135000	0.41735	3.034000	0.36053	0.450000	0.21304	1.000000	0.71638	0.051000	0.21832	0.095000	0.18041	0.0:1.0:0.0:0.0	16.572	0.84472	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1042.83	84	chr4	1655285	.	C	T	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.583;DP=303;ExcessHet=0;FS=4.194;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.201;SOR=0.433	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1053,0,1147	5	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	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:75,36:111:99:270,0,1698	0	0	5	1
chr4	9226196	9226196	T	C	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.T1301C:p.L434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.641643718126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.866e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.19	0.61577	M	-0.34	0.68474	T	-2.87	0.60348	D	0.197	0.21839	-0.7133	0.59790	T	0.290	0.66192	T	6	0.3692076	0.53342	T	0.641644	0.96947	D	0.190	0.46781	0.625	0.76028	0.527857482506	0.52433	0.02471896554853487	0.02422	.	.	0.516608834267	0.41148	T	0.133248	0.46381	T	-0.103552	0.35835	T	-0.386522	0.34959	T	0.871669411659241	0.52155	D	0.60344	0.22635	T	0.45899668	0.64608	0.5500927	0.73987	0.45899668	0.64609	0.5500927	0.73988	-3.854	0.21614	T	.	.	0.614	0.69464	P	.;.	.;.	2.721329	0.35600	19.94	0.97754351763411462	0.35763	0.02728	0.07395	N	AEFI	0.037036	0.05029	N	-0.494470663192851	0.22260	1.187427	-0.718359202488126	0.16503	0.8733725	1.1000463852551E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.742000	0.25884	.	.	0.292000	0.18798	0.915000	0.31815	0.158000	0.23238	0.132000	0.19645	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	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	38.0	2	chr4	9226196	.	T	C	38.0	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	2
chr4	10598015	10598015	C	T	exonic	CLNK	.	nonsynonymous SNV	CLNK:NM_052964:exon3:c.G46A:p.D16N	.	432	1078	10	2	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0014	0.00219649	0.0048	0.0003	0.0089	0	0.0004	0.0036	0.0031	0.0112	0.0016429	254	154602	rs201145337	0.0019	0.0020	0.0017	0.0021	0.0278	0.0019	0.0018	0.0242	0.0229	0.0008	0.0023	0.0074	5.111e-05	0.0004	0.0278	0.0014	0.0022	0.0074	0.0014	0.0014	0.0012	0.0016	0.0072	0.0013	0.0012	0.0054	0.0047	0.0005	0	0.0025	0.0046	0	0	0.0442	0.0013	0.0038	0.0072	0.0	0.91255	D	0.251	0.23638	T	0.999	0.77913	D	0.78	0.57283	P	0.119925	0.19055	N	0.487681	1	0.23916	N	1.59	0.40313	L	1.63	0.28002	T	-1.07	0.27876	N	0.416	0.45615	-1.0901	0.05515	T	0.082	0.32324	T	10	0.0063123703	0.00142	T	.	.	.	0.054	0.15330	.	.	0.0611884634855	0.05136	0.0551522907027918	0.05456	0.0329596082575	0.03447	0.422912150621	0.28238	T	0.086577	0.37756	T	-0.550291	0.00290	T	-0.558806	0.16489	T	0.0295003129332043	0.01913	T	0.733327	0.34901	T	0.1628871	0.36395	0.14189479	0.33776	0.1628871	0.36395	0.14189479	0.33775	-2.983	0.09999	T	.	.	0.107	0.19958	B	.;.	.;.	3.189912	0.43335	21.7	0.99779149443322734	0.86606	0.12091	0.17054	N	AEFBI	0.099526	0.20032	N	0.00353873356617966	0.42017	2.523709	-0.0833447560354896	0.36078	2.095069	0.999868022696912	0.44398	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	2.83	0.32150	0.688000	0.25103	0.755000	0.21268	0.599000	0.40250	0.399000	0.26162	0.192000	0.23504	0.837000	0.39485	0.1633:0.5205:0.3161:0.0	8.423	0.31873	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018649	0.030303	0.009511	0.058824	0.100000	0.008621	0.003049	0.000000	0.1667	1607.04	58	chr4	10598015	.	C	T	1607.04	.	AC=2;AF=0.167;AN=12;DP=234;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.71;SOR=0.914	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1627,173,0	5	1	0	0
chr4	20524124	20524124	G	A	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon14:c.G1397A:p.R466H,SLIT2:NM_001289136:exon14:c.G1385A:p.R462H,SLIT2:NM_004787:exon14:c.G1385A:p.R462H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	0.0764689840989	.	.	1.658e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs769078226	1.642e-05	1.71e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	6.511e-05	4.449e-05	0.0001	0	0	0.0002	0	0	8.993e-06	0	4.637e-05	1.973e-05	2.627e-05	0	4.038e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.046	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.94	0.52218	M	-1.46	0.81150	T	-4.54	0.78472	D	0.813	0.83781	0.254	0.86805	D	0.636	0.87270	D	10	0.8284818	0.82018	D	0.076469	0.72539	D	0.619	0.85196	0.478	0.55663	0.824376104927	0.82271	0.5146724863792764	0.51390	1.16391528366	0.79565	0.89388602972	0.95734	D	0.430284	0.77880	T	0.261628	0.79681	D	0.15352	0.80406	D	0.941605925559998	0.61501	D	0.996967	0.98830	D	0.6123164	0.73352	0.6756727	0.80955	0.6123164	0.73353	0.6756727	0.80956	-9.757	0.74609	D	.	.	0.959	0.90664	P	.;.;.;.;.	.;.;.;.;.	5.756851	0.93408	33	0.9996019660503509	0.99994	0.99067	0.90742	D	AEFBI	0.916858	0.88364	D	0.876334915742293	0.90554	10.45645	0.899154990832932	0.95535	13.71607	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	10.003000	0.99689	11.933000	0.99945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.337	0.98749	852	0.35056	.;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, 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	.	.	.	.	.	.	.	.	0.08333	1192.83	91	chr4	20524124	.	G	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.858;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.997;SOR=0.663	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1203,0,1176	5	0	1	0
chr4	47546793	47546793	T	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon10:c.T1566A:p.F522L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0065	0.00838658	0.0018	0.0204	0.0008	0	0	0	0.0011	0	0.0017594	272	154602	rs6843325	0.0005	0.0005	0.0006	0.0004	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0010	0	0	0	0.0013	3.597e-06	0.0014	4.638e-05	0.0059	0.0059	0.0059	0.0058	0.0204	0.0055	0.0054	0.0192	0.0188	0.0204	0	0.0024	0	0	0	0	1.47e-05	0.0043	0	0.473	0.08408	T	0.361	0.16914	T	0.0	0.02946	B	0.005	0.11217	B	0.788122	0.06695	N	1.093230	1	0.08975	N	-0.695	0.01866	N	1.23	0.36872	T	-0.06	0.07882	N	0.043	0.02559	-1.0137	0.25752	T	0.018	0.07659	T	10	0.0031024814	0.00052	T	.	.	.	0.016	0.02506	0.237	0.16760	0.253205268125	0.24938	0.29415769646728623	0.29328	0.155473890706	0.17544	0.303469955921	0.10921	T	7.58E-4	0.00354	T	-0.606929	0.00132	T	-0.629651	0.10441	T	0.000582770705061211	0.00005	T	0.283072	0.09067	T	0.024108423	0.01211	0.023924347	0.00407	0.024108423	0.01211	0.023924347	0.00406	-1.888	0.02785	T	.	.	0.275	0.57542	B	.;.	.;.	-0.378926	0.02292	0.240	0.34470656016239992	0.02110	0.10528	0.16010	N	AEFDBI	0.067394	0.13246	N	-1.22422668598607	0.04651	0.2103499	-1.30027276146182	0.04427	0.2088104	0.955245607703688	0.28177	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.02	-4.01	0.03775	-0.541000	0.06187	-2.131000	0.04167	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.160000	0.20649	0.126:0.2727:0.1201:0.4812	1.858	0.02991	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1770.83	190	chr4	47546793	.	T	A	1770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.838;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.358;SOR=0.697	GT:AD:DP:GQ:PL	0/1:118,72:190:99:1781,0,3128	5	0	1	0
chr4	47680192	47680192	C	T	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_006587:exon8:c.G1081A:p.V361M	Preeclampsia/eclampsia 5	0	1521	1	0	0	1	0.000328623	.	.	.	609542	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.739	0.219309888457	0.0022	0.000798722	0.0005	0.0051	0.0003	0	0	3.014e-05	0	6.079e-05	0.0004334	67	154602	rs139499566	0.0002	0.0002	0.0002	0.0002	0.0054	0.0002	0.0002	0.0048	0.0045	0.0054	0.0003	0	0	0	0.0007	1.799e-05	0.0009	1.159e-05	0.0016	0.0016	0.0015	0.0017	0.0054	0.0014	0.0013	0.0048	0.0046	0.0054	0	0.0008	0	0	0	0	1.47e-05	0.0019	0	0.048	0.40068	D	0.002	0.79402	D	0.991	0.64070	D	0.932	0.66722	D	0.000209	0.47681	N	0.140928	0.998467	0.81001	D	1.575	0.39704	L	-3.93	0.96111	D	-1.27	0.32185	N	0.269	0.35620	0.827	0.94745	D	0.871	0.95698	D	10	0.025980592	0.00776	T	0.21931	0.87701	D	0.739	0.90939	.	.	0.934982959784	0.93431	0.7529571024289268	0.75242	0.218754404323	0.24414	0.505893170834	0.39648	T	0.346496	0.71475	T	-0.222183	0.17697	T	-0.0898698	0.64172	T	0.0160930042265956	0.00387	T	0.964603	0.86885	D	0.054355342	0.10418	0.09926295	0.23695	0.060518194	0.12426	0.09534015	0.22608	-6.218	0.48069	T	.	.	0.14	0.35435	B	.;.;.	.;.;.	4.246759	0.64428	24.7	0.9989898574661974	0.97124	0.82313	0.41559	D	AEFBI	0.375440	0.45997	N	0.584410338086317	0.72203	5.768628	0.562336347521064	0.72259	5.781796	0.0172842011339967	0.12933	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.93	5.09	0.68647	3.716000	0.54633	4.014000	0.41189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.927:0.0:0.073	14.164	0.64997	516	0.74704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2117.83	183	chr4	47680192	.	C	T	2117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.542;DP=374;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.07;SOR=0.759	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2128,0,2660	5	0	1	0
chr4	51994693	51994693	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2329T:p.L777F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.012066255091	0.0003	.	3.316e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs200652349	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0003	4.38e-06	3.46e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.656e-05	0	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.018	0.59732	D	0.983	0.60381	D	0.799	0.58136	P	0.430340	0.12756	N	0.682746	1	0.08975	N	1.905	0.50856	L	0.77	0.49642	T	-1.9	0.44284	N	0.034	0.00942	-1.0092	0.27167	T	0.132	0.44366	T	10	0.090920895	0.15881	T	0.012066	0.30309	T	0.105	0.29889	.	.	0.279776271856	0.27574	0.012651325422131094	0.01224	0.055173266616	0.06106	0.250904977322	0.03864	T	0.027702	0.20231	T	-0.531375	0.00377	T	-0.592408	0.13458	T	0.151099875569344	0.17191	T	0.470553	0.13922	T	0.06913149	0.15121	0.08592009	0.19871	0.06913149	0.15121	0.08592009	0.19871	-4.244	0.27384	T	.	.	0.116	0.23219	B	.	.	1.125354	0.15115	11.60	0.99638365929389316	0.76510	0.02642	0.07243	N	AEFBI	0.068269	0.13459	N	-0.309259150342308	0.28795	1.591288	-0.499178193777773	0.22176	1.20325	0.00334965432497167	0.10067	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.67	1.76	0.23776	0.098000	0.15027	-0.053000	0.12521	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0976:0.1753:0.5463:0.1808	3.076	0.05870	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2610.83	207	chr4	51994693	.	G	A	2610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.373;DP=390;ExcessHet=0;FS=1.084;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.844;SOR=0.591	GT:AD:DP:GQ:PL	0/1:109,98:207:99:2621,0,3065	5	0	1	0
chr4	52024115	52024115	G	A	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon6:c.C799T:p.R267C	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	267280	not_specified|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy|Qualitative_or_quantitative_defects_of_beta-sarcoglycan|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015|MONDO:MONDO:0016142,MedGen:C2930900,Orphanet:207063|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.745	.	7.7e-05	0.00439297	0.0022	0	0.0005	0	0	0.0002	0	0.0150	0.0019663	304	154602	rs200761715	0.0011	0.0011	0.0006	0.0015	0.0150	0.0010	0.0010	0.0144	0.0141	0	0.0003	3.826e-05	0.0002	3.744e-05	0.0047	0.0001	0.0012	0.0150	0.0006	0.0006	0.0003	0.0008	0.0137	0.0005	0.0004	0.0110	0.0101	2.406e-05	0	0.0004	0.0003	0	0	0.0034	0.0001	0	0.0137	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.68	0.95282	D	-3.94	0.73378	D	0.706	0.70966	0.933	0.96152	D	0.896	0.96565	D	10	0.012774318	0.00273	T	.	.	.	0.745	0.91198	.	.	0.945944769335	0.94538	0.6819642386616119	0.68135	0.420273735843	0.42557	0.611253023148	0.54493	T	0.918554	0.98524	D	0.0409665	0.57172	T	0.298393	0.88124	D	0.104909141530984	0.12888	T	0.958704	0.84427	D	0.36517072	0.58226	0.27850297	0.53811	0.38927615	0.59981	0.34736726	0.60391	-7.414	0.57003	T	0.4473518777209099	0.53177	0.312	0.53929	B	.	.	5.424723	0.90741	31	0.9991215684914504	0.98095	0.99090	0.91078	D	AEFBI	0.913807	0.87629	D	0.542346259648222	0.69618	5.382525	0.432744076959233	0.63616	4.599009	0.999999999987702	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.904000	0.86152	11.827000	0.97409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0:0.0:1.0:0.0	18.618	0.91264	.	.	.	.	.	.	.	.	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	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.034091	0.08333	942.83	93	chr4	52024115	.	G	A	942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.86;DP=274;ExcessHet=0;FS=4.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.108;SOR=1.246	GT:AD:DP:GQ:PL	0/1:59,34:93:99:953,0,1591	5	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.1667	2449.03	75	chr4	55965812	.	AAAG	A	2449.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.903;DP=330;ExcessHet=0.4139;FS=4.036;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.514;SOR=0.44	GT:AD:DP:GQ:PL	0/1:45,30:75:99:1117,0,1799	4	0	2	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	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	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.08333	3314.83	211	chr4	72283389	.	C	T	3314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.72;DP=389;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.24;SOR=0.776	GT:AD:DP:GQ:PL	0/1:90,121:211:99:3325,0,2186	5	0	1	0
chr4	83455656	83455656	G	C	exonic	HELQ	.	nonsynonymous SNV	HELQ:NM_001297755:exon1:c.C38G:p.S13C,HELQ:NM_001297758:exon1:c.C38G:p.S13C,HELQ:NM_001297759:exon1:c.C38G:p.S13C,HELQ:NM_133636:exon1:c.C38G:p.S13C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0743585569262	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs551500491	2.74e-06	2.736e-06	4.089e-06	1.377e-06	0.0002	6.4e-07	4.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	0	0	1.159e-05	6.569e-06	6.562e-06	1.285e-05	0	2.408e-05	0	0	.	.	2.408e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.055	0.46862	T	0.002	0.09854	B	0.005	0.11217	B	0.400179	0.13135	N	0.690974	1	0.08975	N	1.975	0.53506	M	-0.73	0.77466	T	-1.09	0.31576	N	0.169	0.17966	-0.7630	0.57242	T	0.281	0.65239	T	10	0.052432418	0.05275	T	0.074359	0.72022	D	0.066	0.19193	0.235	0.16457	0.479133204078	0.47542	0.27241316419455025	0.27154	0.102454318034	0.11596	0.561992287636	0.47548	T	0.004071	0.16853	T	-0.107465	0.35187	T	-0.392143	0.34301	T	0.207877114415169	0.20842	T	0.79622	0.43953	T	0.15237086	0.34592	0.11458174	0.27658	0.15237086	0.34592	0.11458174	0.27657	-4.668	0.33015	T	.	.	0.085	0.27161	B	.;.	.;.	3.254971	0.44492	21.9	0.98421283629309853	0.41288	0.08186	0.14147	N	ALL	0.072090	0.14374	N	-0.847912719202969	0.12101	0.5878467	-0.810362596419175	0.14245	0.7433093	0.999999999967911	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.25	2.58	0.30011	0.692000	0.25161	1.483000	0.26835	-0.150000	0.12128	0.235000	0.24695	0.848000	0.27364	0.775000	0.36711	0.0863:0.3214:0.5923:0.0	7.442	0.26358	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	.	.	.	.	.	.	.	.	0.08333	1260.83	92	chr4	83455656	.	G	C	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=337;ExcessHet=0;FS=1.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.215;SOR=0.978	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1271,0,1358	5	0	1	0
chr4	86701574	86701574	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon7:c.G968A:p.R323H,PTPN13:NM_080683:exon7:c.G968A:p.R323H,PTPN13:NM_080684:exon7:c.G968A:p.R323H,PTPN13:NM_080685:exon7:c.G968A:p.R323H	.	.	.	.	.	.	.	.	.	.	.	721100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0052	0.00359425	0.0011	0.0133	0.0004	0	0	2.999e-05	0	0	0.0010414	161	154602	rs115836094	0.0004	0.0004	0.0004	0.0003	0.0139	0.0004	0.0004	0.0129	0.0125	0.0139	0.0007	0	2.519e-05	0	0.0005	1.709e-05	0.0009	4.638e-05	0.0037	0.0037	0.0039	0.0034	0.0129	0.0034	0.0033	0.0120	0.0116	0.0129	0	0.0010	0	0	0	0.0068	0	0.0024	0	0.511	0.16848	T	0.464	0.13792	T	0.002	0.09854	B	0.002	0.06944	B	0.462913	0.04881	N	1.342750	1	0.08975	N	0.615	0.15706	N	1.53	0.30401	T	0.21	0.04776	N	0.027	0.01825	-0.9902	0.32551	T	0.025	0.10821	T	10	0.0035237372	0.00063	T	.	.	.	0.018	0.03083	.	.	0.107399877778	0.10242	0.21089032409385974	0.21005	0.0389498150119	0.04147	0.210750952363	0.00843	T	0.048051	0.27903	T	-0.731171	0.00023	T	-0.810729	0.01649	T	0.00638972431853794	0.00071	T	0.622538	0.23960	T	0.012102889	0.00027	0.02557189	0.00607	0.012102889	0.00027	0.02557189	0.00607	-3.876	0.22948	T	.	.	0.059	0.01512	B	.;.;.;.;.	.;.;.;.;.	-1.043131	0.00712	0.021	0.5818567122804138	0.05936	0.01631	0.05259	N	AEFGBI	0.029380	0.02763	N	-1.52985176523265	0.01656	0.07244402	-1.60448877352242	0.01628	0.07388559	0.780747933648605	0.23838	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	-7.12	0.01384	-0.594000	0.05828	-1.043000	0.06508	-1.528000	0.00996	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.409:0.0:0.4877:0.1032	9.902	0.40523	861	0.33516	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1983.83	153	chr4	86701574	.	G	A	1983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=328;ExcessHet=0;FS=4.77;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.641;SOR=0.92	GT:AD:DP:GQ:PL	0/1:75,78:153:99:1994,0,1794	5	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,20:20:61:.:.:853,61,0:.	1	3	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,20:20:61:.:.:853,61,0:.	1	3	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1217.02	35	chr4	87615936	.	A	*	1217.02	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3;DP=144;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=58.23;MQRankSum=-1.876;QD=9.22;ReadPosRankSum=-1.614;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1453,103,0:87615920	3	2	0	1
chr4	87615952	87615955	GCGA	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	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	605.62	35	chr4	87615952	.	GCGA	*	605.62	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.586;DP=113;ExcessHet=0;FS=4.195;MLEAC=5;MLEAF=0.625;MQ=58.82;MQRankSum=-0.31;QD=6.66;ReadPosRankSum=-0.755;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1453,103,0:87615920	2	2	0	2
chr4	87615956	87615962	TAGCAGC	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	1160	197	41	98	26	263	0.375594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1186.42	35	chr4	87615956	.	TAGCAGC	*	1186.42	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.38;DP=110;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=57.61;MQRankSum=1.38;QD=11.19;ReadPosRankSum=0.21;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1453,103,0:87615920	3	2	0	1
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	433.66	35	chr4	87615962	.	C	*	433.66	.	AC=5;AF=0.5;AN=10;DP=109;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=54.4;MQRankSum=1.47;QD=4.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1453,103,0:87615920	2	2	1	1
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	211.81	35	chr4	87615971	.	C	*	211.81	.	AC=4;AF=0.5;AN=8;DP=96;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=58.89;QD=3.21;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1453,103,0:87615920	2	2	0	2
chr4	88067937	88067937	A	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon13:c.A2398C:p.M800L	Polycystic kidney disease 2	1	1453	65	3	0	71	0.0238495	.	.	.	221479	Polycystic_kidney_disease|not_specified|Polycystic_kidney_disease_2|Joubert_syndrome_7|Autosomal_dominant_polycystic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	.	0.0044	0.00579073	0.0048	0.0083	0.0025	0	0.0009	0.0040	0.0055	0.0117	0.0044695	691	154602	rs2234917	0.0032	0.0032	0.0028	0.0036	0.0187	0.0031	0.0031	0.0159	0.0148	0.0077	0.0043	0.0205	0	0.0003	0.0187	0.0020	0.0057	0.0114	0.0051	0.0051	0.0051	0.0052	0.0118	0.0048	0.0047	0.0094	0.0085	0.0072	0.0132	0.0065	0.0236	0	0.0003	0.0442	0.0029	0.0066	0.0118	0.665	0.04629	T	0.939	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.000918	0.41128	N	0.295663	0.616511	0.30816	N	1.1	0.28011	L	-0.41	0.69413	T	-0.11	0.14588	N	0.254	0.30233	-0.9394	0.42711	T	0.113	0.40307	T	10	0.0069056153	0.00157	T	.	.	.	0.399	0.71321	0.495	0.58363	0.945837253058	0.94527	0.1314713499274115	0.13072	0.139255522669	0.15693	0.421813100576	0.28086	T	0.142519	0.47815	T	-0.268207	0.11957	T	-0.14765	0.59452	T	0.00219528382903001	0.00023	T	0.764224	0.39120	T	0.045509968	0.07461	0.054237243	0.09290	0.057194527	0.11352	0.057819337	0.10579	-2.145	0.03782	T	0.10625892327191047	0.08520	0.074	0.04932	B	.;.;.	.;.;.	1.446665	0.18669	13.86	0.71330291271392499	0.09593	0.89619	0.50200	D	AEFBI	0.237112	0.35945	N	-0.504278964987943	0.21940	1.168109	-0.333832732084893	0.27015	1.496058	0.901064122219379	0.26092	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.68	3.07	0.34476	1.488000	0.35160	1.902000	0.29588	0.754000	0.88378	0.976000	0.34826	0.976000	0.30059	0.938000	0.47775	0.6156:0.3844:0.0:0.0	12.700	0.56398	620	0.66037	.;.;.	.	.	.	.	.	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	0.016616	0.010101	0.012228	0.008772	0.000000	0.025862	0.024390	0.018939	0.08333	624.83	57	chr4	88067937	.	A	C	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=228;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.129;SOR=0.841	GT:AD:DP:GQ:PL	0/1:33,24:57:99:635,0,889	5	0	1	0
chr4	104491512	104491517	GGCGGT	-	exonic	CXXC4	.	nonframeshift deletion	CXXC4:NM_025212:exon2:c.286_291del:p.T96_A97del	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0161	0	0	0	0	0.0109	0	0.0455	0.0001746	27	154602	rs762609353	0.0008	0.0008	0.0006	0.0010	0.0074	0.0007	0.0007	0.0068	0.0065	4.708e-05	0	0.0181	0	0	0.0016	0.0001	0.0019	0.0074	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0006	0.0063	0.0056	2.496e-05	0	0.0001	0.0148	0	0	0.0034	0.0004	0	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	493.8	29	chr4	104491511	.	CGGCGGT	C	493.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.091;DP=91;ExcessHet=0;FS=6.495;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.699;SOR=0.071	GT:AD:DP:GQ:PL	0/1:15,14:29:99:504,0,588	5	0	1	0
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.08333	1513.83	112	chr4	112430694	.	A	G	1513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=339;ExcessHet=0;FS=1.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.592;SOR=0.895	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1524,0,1528	5	0	1	0
chr4	118054114	118054114	G	A	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon2:c.G204A:p.M68I	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00562235872519	0.0032	0.00159744	0.0033	0.0005	0.0032	0	0.0005	0.0049	0.0055	0.0014	0.0032406	501	154602	rs78812192	0.0034	0.0034	0.0035	0.0033	0.0045	0.0033	0.0033	0.0036	0.0036	0.0004	0.0029	0.0106	2.52e-05	0.0008	0.0045	0.0037	0.0036	0.0017	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0043	0.0039	0.0005	0	0.0052	0.0136	0	0.0004	0	0.0032	0.0014	0.0004	0.37	0.11550	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.820185	0.09184	N	0.924715	1	0.08975	N	1.04	0.26193	L	1.35	0.34648	T	0.58	0.02598	N	0.088	0.06587	-1.0192	0.23975	T	0.056	0.23413	T	10	0.0044923723	0.00092	T	0.005622	0.14530	T	0.030	0.07022	0.348	0.34436	0.372446077551	0.36852	0.38611961801463934	0.38526	0.509347028412	0.49074	0.231498658657	0.02081	T	0.162128	0.50666	T	-0.66809	0.00056	T	-0.731626	0.04254	T	0.000752385890629979	0.00007	T	0.149285	0.01243	T	0.05689058	0.11252	0.061674606	0.11947	0.05689058	0.11252	0.061674606	0.11947	-3.47	0.16014	T	.	.	0.115	0.22933	B	.	.	0.136099	0.05307	1.800	0.88002510401254874	0.17643	0.04083	0.09542	N	AEFI	0.069767	0.13823	N	-0.967093789489084	0.09313	0.4402422	-0.941043674313456	0.11131	0.5652214	0.989493441080729	0.31844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.478617	0.07155	0	.	.	5.53	-0.893	0.10031	-0.547000	0.06145	-1.319000	0.05727	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4642:0.2501:0.2857:0.0	5.668	0.16979	952	0.10565	Heparan sulphate-N-deacetylase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.005848	0.000000	0.008621	0.006098	0.007576	0.08333	1353.83	114	chr4	118054114	.	G	A	1353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.613;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.475;SOR=0.688	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1364,0,1753	5	0	1	0
chr4	119158049	119158049	G	A	exonic	MYOZ2	.	nonsynonymous SNV	MYOZ2:NM_016599:exon4:c.G274A:p.V92M	Cardiomyopathy, hypertrophic, 16, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0126523133265	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239752760	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.114	0.36765	T	0.005	0.12996	B	0.009	0.14300	B	0.517782	0.11775	N	0.760872	1	0.08975	N	-0.625	0.02162	N	-0.04	0.63240	T	0.46	0.03140	N	0.151	0.15469	-1.0695	0.09523	T	0.073	0.29643	T	10	0.033884734	0.01578	T	0.012652	0.31409	T	0.028	0.06331	0.315	0.29096	0.446715556694	0.44294	0.13549641673551954	0.13473	0.178130518236	0.20040	0.331720650196	0.15194	T	0.069124	0.33631	T	-0.438228	0.01325	T	-0.685733	0.06639	T	0.0646093406113421	0.07873	T	0.531447	0.17660	T	0.035218224	0.04104	0.060813285	0.11643	0.037475184	0.04811	0.051089637	0.08150	-4.342	0.28761	T	0.08177786019513264	0.04257	0.065	0.01909	B	.	.	-0.025938	0.04108	0.969	0.91353219957705889	0.20616	0.01305	0.04528	N	AEFI	0.075630	0.15193	N	-1.40952490299209	0.02554	0.1129481	-1.37786463637186	0.03489	0.162855	0.00317704100628591	0.09972	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.7	-6.2	0.01894	-1.656000	0.02083	-1.928000	0.04482	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.979000	0.57723	0.3195:0.2643:0.2277:0.1885	0.969	0.01323	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	800.83	54	chr4	119158049	.	G	A	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.16;DP=243;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.538;SOR=0.957	GT:AD:DP:GQ:PL	0/1:25,29:54:99:811,0,642	5	0	1	0
chr4	121037174	121037174	C	T	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.G797A:p.R266H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0170409206107	7.7e-05	.	1.656e-05	0	8.72e-05	0	0	1.506e-05	0	0	1.29e-05	2	154602	rs375890636	3.283e-05	3.283e-05	3.403e-05	3.163e-05	0.0002	2.543e-05	2.249e-05	2.828e-05	2.507e-05	2.987e-05	0	0	0	0	0.0002	3.777e-05	4.967e-05	1.159e-05	1.974e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.418e-05	0	0	0	0	0	0	2.941e-05	0	0	0.157	0.23997	T	0.433	0.13595	T	0.663	0.40973	P	0.083	0.29179	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.39	0.68882	M	.	.	.	-0.83	0.22727	N	0.205	0.22742	-0.8830	0.49521	T	0.155	0.48602	T	9	0.1411655	0.26825	T	0.017041	0.38572	T	0.126	0.34673	.	.	0.534140917371	0.53064	0.5303897949143184	0.52962	0.44627287522	0.44504	0.379884064198	0.22240	T	0.020954	0.16402	T	-0.140352	0.29833	T	-0.259086	0.48916	T	0.162272021726783	0.18038	T	0.845015	0.52334	T	0.1119393	0.26449	0.08004242	0.18072	0.1119393	0.26448	0.08004242	0.18072	-4.213	0.26939	T	.	.	0.108	0.20391	B	.	.	2.735226	0.35810	20.0	0.97273132787841654	0.33144	0.97701	0.76514	D	AEFBI	0.806835	0.73104	D	-0.0322671733951723	0.40398	2.39838	-0.0482897132477239	0.37564	2.201151	0.986773495450609	0.31123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.04	0.46262	5.829000	0.69007	1.438000	0.26503	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.184000	0.21420	0.1279:0.8058:0.0:0.0662	11.179	0.47843	827	0.39843	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	.	.	.	.	.	.	.	.	0.08333	1627.83	130	chr4	121037174	.	C	T	1627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=525;ExcessHet=0;FS=2.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.932;SOR=0.914	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1638,0,1884	5	0	1	0
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.08333	3642.83	258	chr4	137530243	.	G	A	3642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=430;ExcessHet=0;FS=2.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.86;SOR=0.705	GT:AD:DP:GQ:PL	0/1:129,129:258:99:3653,0,3680	5	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,12:65:48:.:.:48,0,1692:.	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,12:63:83:.:.:83,0,1613:.	0	0	6	0
chr4	152975942	152975942	A	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.A2651T:p.Q884L,FHDC1:NM_001371116:exon12:c.A2651T:p.Q884L	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00620020924996	0.0005	0.00219649	0.0009	0	8.773e-05	0	0	0.0006	0.0013	0.0063	0.0008473	131	154602	rs146445614	0.0009	0.0009	0.0007	0.0011	0.0081	0.0009	0.0008	0.0075	0.0073	6.632e-05	0.0001	0.0001	0	0.0001	0.0009	0.0006	0.0009	0.0081	0.0007	0.0007	0.0005	0.0008	0.0091	0.0006	0.0005	0.0070	0.0062	7.216e-05	0	0.0003	0.0003	0.0004	0.0002	0	0.0006	0.0005	0.0091	0.153	0.24372	T	0.211	0.26631	T	0.0	0.02946	B	0.001	0.04355	B	0.188083	0.03230	N	1.516220	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-1.61	0.38734	N	0.093	0.07262	-1.0311	0.20099	T	0.037	0.16160	T	10	0.0037124455	0.00069	T	0.006	0.16259	T	0.029	0.06676	.	.	0.0611884634855	0.05136	0.16371323880876917	0.16291	0.112108087553	0.12649	0.390544235706	0.23746	T	0.003449	0.02859	T	-0.640738	0.00083	T	-0.689985	0.06390	T	0.0232113130686805	0.01049	T	0.29517	0.05454	T	0.102659814	0.24260	0.054198485	0.09276	0.102659814	0.24260	0.054198485	0.09275	-2.889	0.09034	T	.	.	0.086	0.11269	B	.;.	.;.	-0.747036	0.01215	0.061	0.8276254673245329	0.14362	0.14739	0.18560	N	AEFBCI	0.090031	0.18246	N	-1.65812260482119	0.01001	0.04340509	-1.7633260734973	0.00884	0.03951128	0.999985182775674	0.51787	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.65	-9.31	0.00548	-0.037000	0.12116	-0.528000	0.08651	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3948:0.3691:0.0:0.2361	7.738	0.27988	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1197.83	97	chr4	152975942	.	A	T	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=352;ExcessHet=0;FS=2.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.429;SOR=1.055	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1208,0,1261	5	0	1	0
chr4	153712573	153712573	A	-	exonic	RNF175	.	frameshift deletion	RNF175:NM_173662:exon8:c.768delT:p.H257Mfs*26	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs748534464	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.163e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0132	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1141.79	74	chr4	153712572	.	GA	G	1141.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=275;ExcessHet=0;FS=8.152;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.888;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,31:74:99:0|1:153712572_GA_G:1152,0,1712:153712572	5	0	1	0
chr4	153712577	153712577	C	G	splicing	RNF175	NM_173662:exon8:c.765-1G>C	.	.	.	424	1091	7	0	0	7	0.00319781	1.0000	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs201624616	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.181e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0133	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180841	0.72120	D	0.384	0.91568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316225	0.66020	24.9	0.99501987502154821	0.68089	0.98373	0.82117	D	AEFI	.	.	.	1.10981550956187	0.98312	17.94131	0.94201250299524	0.97156	15.67585	0.999999998906334	0.74766	0.164513	0.03853	0	0.059962	0.00310	0	0.183335	0.04453	0	0.058706	0.01089	0	0.987031	0.95367	4.69	4.69	0.58546	5.683000	0.67852	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.937	0.79508	655	0.62421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1141.83	74	chr4	153712577	.	C	G	1141.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=271;ExcessHet=0;FS=8.152;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.915;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,31:74:99:0|1:153712572_GA_G:1152,0,1712:153712572	5	0	1	0
chr4	154586731	154586731	A	G	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.T698C:p.V233A,FGA:NM_021871:exon5:c.T698C:p.V233A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0244593279094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.022	0.33445	B	0.023	0.30945	B	0.000022	0.00348	N	4.053270	0.999999	0.19989	N	1.905	0.50856	L	0.16	0.60610	T	-2.51	0.54546	D	0.072	0.08925	-0.9236	0.45056	T	0.165	0.50307	T	10	0.4967374	0.61310	T	0.024459	0.47448	T	0.192	0.47115	0.846	0.94965	0.710231983662	0.70770	0.3505311336511119	0.34967	0.0692597278946	0.07753	0.277234405279	0.07109	T	0.791809	0.94599	D	-0.162044	0.26445	T	-0.470542	0.25457	T	0.814254701137543	0.47352	D	0.40206	0.10263	T	0.24391563	0.47335	0.23381002	0.48580	0.24391563	0.47335	0.23381002	0.48579	-3.502	0.16459	T	.	.	0.390	0.58999	A	.;.	.;.	1.944600	0.24698	16.49	0.87269909453226946	0.17107	0.83253	0.42385	D	AEFGBCI	0.377603	0.46131	N	-0.541871555778687	0.20739	1.095536	-0.535020626357537	0.21204	1.146006	0.999996055757278	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.98	0.25351	2.073000	0.41144	4.641000	0.44155	0.756000	0.94297	0.603000	0.27772	0.257000	0.23957	0.006000	0.07323	0.8042:0.0:0.1958:0.0	9.084	0.35731	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1932.83	161	chr4	154586731	.	A	G	1932.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=354;ExcessHet=0;FS=4.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.256;SOR=0.636	GT:AD:DP:GQ:PL	0/1:85,76:161:99:1943,0,2137	5	0	1	0
chr4	176162121	176162121	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon20:c.G2632A:p.D878N,WDR17:NM_001378106:exon20:c.G2632A:p.D878N,WDR17:NM_001378104:exon21:c.G2797A:p.D933N,WDR17:NM_181265:exon21:c.G2797A:p.D933N,WDR17:NM_001350727:exon22:c.G2869A:p.D957N,WDR17:NM_001378103:exon22:c.G2869A:p.D957N,WDR17:NM_170710:exon22:c.G2869A:p.D957N	.	432	1086	4	0	0	4	0.00183824	.	.	.	2820282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0157253066431	0.0035	0.00159744	0.0028	0.0006	0.0009	0	0.0021	0.0043	0	0.0015	0.0027749	429	154602	rs148579014	0.0043	0.0044	0.0045	0.0042	0.0050	0.0043	0.0042	0.0049	0.0049	0.0004	0.0007	0.0035	0	0.0030	0.0005	0.0050	0.0046	0.0021	0.0026	0.0026	0.0026	0.0027	0.0044	0.0024	0.0023	0.0040	0.0038	0.0008	0	0.0007	0.0040	0	0.0025	0	0.0044	0.0005	0.0033	0.123	0.28271	T	0.26	0.23638	T	0.77	0.43887	P	0.411	0.44827	B	0.000021	0.55875	D	0.112987	0.999999	0.58761	D	2.175	0.60977	M	0.38	0.58176	T	-0.72	0.22078	N	0.534	0.56231	-0.5886	0.65276	T	0.282	0.65369	T	10	0.012596369	0.00270	T	0.015725	0.36624	T	0.159	0.41286	.	.	0.922754311206	0.92196	0.4543130370410806	0.45349	0.169914134058	0.19155	0.486896038055	0.37008	T	0.011125	0.09967	T	-0.407081	0.02079	T	-0.357527	0.38338	T	0.0411153845724279	0.03892	T	0.917608	0.70392	D	0.09502753	0.22355	0.08986318	0.21039	0.09502753	0.22355	0.08986318	0.21039	-7.734	0.59244	D	.	.	0.120	0.24867	B	.;.;.	.;.;.	3.803540	0.54822	23.5	0.99894746160900372	0.96819	0.98798	0.86991	D	AEFGI	0.891130	0.82680	D	0.540976914631386	0.69535	5.37067	0.624344427918629	0.76712	6.541862	0.999999999935801	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	8.974000	0.93007	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.862	0.96784	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	975.06	50	chr4	176162121	.	G	A	975.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.759;DP=264;ExcessHet=0.4139;FS=1.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.212;SOR=0.54	GT:AD:DP:GQ:PL	0/1:35,15:50:99:373,0,974	4	0	2	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	.	.	.	.	.	.	.	.	0.2	63.8	43	chr4	176711631	.	G	C	63.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.284;DP=357;ExcessHet=0.4139;FS=106.274;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=2.06;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,8:43:26:0|1:176711629_G_C:26,0,1283:176711629	3	0	2	1
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	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	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2	77.8	17	chr4	189953101	.	C	T	77.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.213;DP=69;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=51.78;MQRankSum=-2.151;QD=2.59;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,2:17:39:0|1:189953101_C_T:39,0,624:189953101	3	0	2	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	79.22	17	chr4	189953126	.	G	T	79.22	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.497;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=52.31;MQRankSum=-2.136;QD=2.73;ReadPosRankSum=1.84;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,2:17:39:0|1:189953101_C_T:39,0,624:189953101	4	0	2	0
chr5	13810143	13810143	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon45:c.C7525T:p.R2509C	Ciliary dyskinesia, primary, 3, with or without situs inversus	2	1519	1	0	0	1	0.000329056	.	.	YES	683675	Primary_ciliary_dyskinesia|DNAH5-related_disorder|Primary_ciliary_dyskinesia_3	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	.	.	.	.	.	.	.	.	0.168	0.0255704970991	.	0.00159744	0.0034	0	0	0	0	0	0	0.0062	0.0004334	67	154602	rs531393117	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0002	1.855e-06	0.0002	0.0054	0.0002	0.0002	0.0001	0.0002	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	0.142	0.25457	T	.	.	.	0.007	0.14184	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.56	0.29602	T	-4.64	0.79316	D	0.373	0.41459	-1.0131	0.25943	T	0.103	0.37844	T	10	0.007804841	0.00177	T	0.02557	0.48532	D	0.168	0.42943	.	.	0.509996732195	0.50639	0.7408422689674172	0.74029	0.400050302579	0.41012	0.420968711376	0.27969	T	0.562956	0.85402	D	-0.448939	0.01146	T	-0.415312	0.31613	T	0.234890868183177	0.22183	T	0.549745	0.18930	T	0.23355651	0.46162	0.18689778	0.41890	0.23355651	0.46162	0.18689778	0.41889	-5.974	0.46062	T	0.2027718263426609	0.26980	0.124	0.26200	B	.	.	2.675502	0.34885	19.75	0.97217079671221762	0.32883	0.88983	0.49183	D	AEFDI	0.416081	0.48468	N	-0.148793103831869	0.35285	2.024849	-0.0899562798883155	0.35804	2.075836	0.165288716260561	0.17655	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	4.53	0.55009	1.889000	0.39352	1.757000	0.28522	0.670000	0.69193	0.972000	0.34453	0.228000	0.23763	0.647000	0.32611	0.1452:0.0:0.8548:0.0	11.473	0.49527	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002153	0.000000	0.001471	0.003030	0.000000	0.000000	0.000000	0.003968	0.08333	801.83	55	chr5	13810143	.	G	A	801.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=226;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-2.023;SOR=0.498	GT:AD:DP:GQ:PL	0/1:23,32:55:99:812,0,559	5	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.08333	2577.83	264	chr5	13900212	.	G	T	2577.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.001;DP=443;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.46;SOR=0.585	GT:AD:DP:GQ:PL	0/1:152,112:264:99:2588,0,4148	5	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.08333	774.83	65	chr5	42711274	.	G	A	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.053;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.466;SOR=0.76	GT:AD:DP:GQ:PL	0/1:33,32:65:99:785,0,789	5	0	1	0
chr5	56176157	56176157	A	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon4:c.T307A:p.Y103N	.	432	1073	14	3	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0581225913984	0.0006	0.000199681	0.0006	0	0.0003	0	0	0.0008	0	0.0013	0.0005886	91	154602	rs150154852	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	5.974e-05	0.0007	0	0	0	0.0047	0.0006	0.0009	0.0013	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0004	0.0007	0.0006	0.0001	0	0.0008	0	0	0	0	0.0009	0.0014	0.0012	0.016	0.63226	D	0.054	0.47097	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999996	0.58761	D	0.965	0.23975	L	-0.08	0.63911	T	-5.23	0.93927	D	0.826	0.86191	-0.6383	0.63218	T	0.313	0.68300	T	10	0.28848886	0.46431	T	0.058123	0.67208	D	0.569	0.82460	.	.	0.732198053523	0.72981	0.45069754833998027	0.44987	1.02897236375	0.75360	0.790907740593	0.80581	T	0.120591	0.44293	T	0.00145196	0.51855	T	0.193931	0.82790	D	0.100164450217825	0.12375	T	0.938506	0.78031	D	0.7814739	0.82744	0.82325923	0.89748	0.7814739	0.82746	0.82325923	0.89749	-11.747	0.83597	D	.	.	0.853	0.79905	P	.;.;.	.;.;.	4.910569	0.80791	27.4	0.98771492631215552	0.45971	0.97189	0.73214	D	AEFGBIJ	0.880243	0.80676	D	0.535002652593623	0.69173	5.319768	0.557100437409434	0.71893	5.724689	0.999999999968751	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.635259	0.50027	0	.	.	5.31	5.31	0.75063	8.072000	0.89294	11.134000	0.86880	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	14.921	0.70487	268	0.89479	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1634.83	102	chr5	56176157	.	A	T	1634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=1.46;SOR=0.656	GT:AD:DP:GQ:PL	0/1:41,61:102:99:1645,0,1007	5	0	1	0
chr5	62373761	62373761	T	C	exonic	KIF2A	.	nonsynonymous SNV	KIF2A:NM_001243953:exon17:c.T1664C:p.I555T,KIF2A:NM_004520:exon17:c.T1721C:p.I574T,KIF2A:NM_001098511:exon18:c.T1835C:p.I612T,KIF2A:NM_001243952:exon18:c.T1640C:p.I547T	Cortical dysplasia, complex, with other brain malformations 3, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	1351450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0257501896858	7.7e-05	.	3.299e-05	0	0.0002	0	0	1.499e-05	0	6.065e-05	2.59e-05	4	154602	rs141548628	2.669e-05	2.668e-05	2.724e-05	2.614e-05	0.0007	1.998e-05	1.755e-05	0.0002	0.0001	0	8.945e-05	0	5.039e-05	0	0.0007	2.25e-05	3.314e-05	2.319e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0004	5.24e-06	2.45e-06	6.804e-05	2.848e-05	2.412e-05	0	0	0	0.0004	0	0	0	0	0	0.374	0.54683	T	0.35	0.52727	T	0.0	0.02946	B	0.001	0.06944	B	0.000042	0.53742	D	0.123679	0.995924	0.47118	D	1.015	0.25427	L	-0.73	0.73845	T	-1.78	0.60665	N	0.363	0.45615	-0.9078	0.47121	T	0.194	0.54710	T	10	0.13236716	0.25194	T	0.02575	0.48703	D	0.133	0.36157	.	.	0.615064545066	0.61195	0.5217094161348546	0.52093	0.912684184019	0.71120	0.720049262047	0.70053	T	0.074461	0.34944	T	-0.187526	0.22622	T	-0.281443	0.46657	T	0.124904071802792	0.14903	T	0.90161	0.78262	D	0.11659618	0.27498	0.12139345	0.29291	0.11659618	0.27498	0.12139345	0.29290	-2.206	0.06450	T	.	.	0.073	0.32104	B	.;.;.;.;.	.;.;.;.;.	3.900138	0.56807	23.8	0.98154930097328408	0.38722	0.98503	0.83469	D	AEFDBI	0.879807	0.80600	D	-0.198342896437339	0.33202	1.881099	0.0408879134822538	0.41633	2.504575	0.99999796483316	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	4.91	0.63897	7.649000	0.82656	6.145000	0.54110	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0658:0.0:0.9342	12.332	0.54368	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	.	.	.	.	.	.	.	.	0.08333	1619.83	132	chr5	62373761	.	T	C	1619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.521;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.783;SOR=0.727	GT:AD:DP:GQ:PL	0/1:60,72:132:99:1630,0,1430	5	0	1	0
chr5	73794448	73794468	TATAAAGGTAATGAATGACTC	-	exonic	ARHGEF28	.	frameshift deletion	ARHGEF28:NM_001080479:exon8:c.957_963del:p.I320Vfs*18,ARHGEF28:NM_001177693:exon8:c.957_963del:p.I320Vfs*18	.	439	1080	2	1	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs772952528	9.739e-05	0.0001	9.198e-05	0.0001	0.0005	8.39e-05	7.926e-05	0.0003	0.0002	3.019e-05	2.299e-05	0.0005	0	0	0.0005	7.614e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0008	9.144e-05	7.7e-05	0.0003	0.0002	0	0	0	0.0017	0	0	0.0068	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	306.79	61	chr5	73794447	.	ATATAAAGGTAATGAATGACTC	A	306.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.661;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.511;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,12:61:99:0|1:73794436_T_C:317,0,1938:73794436	5	0	1	0
chr5	77636984	77636984	G	A	exonic	OTP	.	nonsynonymous SNV	OTP:NM_032109:exon2:c.C284T:p.A95V	.	430	1073	18	1	0	20	0.00923361	.	.	.	2827850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.189	0.041481411508	0.0038	0.00239617	0.0057	0.0005	0.0040	0	0.0011	0.0075	0.0055	0.0073	0.0052263	808	154602	rs148662448	0.0052	0.0052	0.0050	0.0054	0.0146	0.0051	0.0050	0.0121	0.0111	0.0008	0.0041	0.0229	2.519e-05	0.0007	0.0146	0.0051	0.0058	0.0067	0.0039	0.0039	0.0042	0.0037	0.0055	0.0037	0.0036	0.0051	0.0049	0.0012	0	0.0040	0.0222	0	0.0004	0.0068	0.0055	0.0062	0.0041	0.044	0.41096	D	0.265	0.22694	T	0.164	0.28467	B	0.027	0.21085	B	0.777347	0.06633	N	1.125700	0.87462	0.35629	D	0	0.06538	N	-3.77	0.95595	D	-0.89	0.24026	N	0.259	0.29313	-0.2946	0.75136	T	0.614	0.86334	D	10	0.0064309537	0.00146	T	0.041481	0.59948	D	0.189	0.46613	.	.	0.44573540394	0.44196	0.27040516834635187	0.26953	0.857873265978	0.68834	0.600927710533	0.53035	T	0.082963	0.36947	T	-0.286225	0.10017	T	-0.179914	0.56531	T	0.0161223072741637	0.00389	T	0.711029	0.32195	T	0.18169217	0.39352	0.22694777	0.47689	0.18169217	0.39351	0.22694777	0.47688	-5.655	0.43291	T	.	.	0.087	0.11220	B	.	.	3.078151	0.41403	21.3	0.99834735827239218	0.91628	0.96602	0.69965	D	AEFDBHCI	0.706198	0.66133	D	-0.190808562669223	0.33516	1.902364	0.01489791002276	0.40407	2.410867	0.999999798589473	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.42	4.53	0.55009	2.500000	0.45040	5.037000	0.46877	0.676000	0.76740	0.753000	0.29166	1.000000	0.68203	1.000000	0.97212	0.0:0.1428:0.8572:0.0	15.072	0.71718	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.002924	0.000000	0.017241	0.021341	0.003788	0.08333	1345.83	111	chr5	77636984	.	G	A	1345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.964;DP=287;ExcessHet=0;FS=0.705;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.168;SOR=0.665	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1356,0,1488	5	0	1	0
chr5	108381229	108381229	G	T	exonic	FBXL17	.	nonsynonymous SNV	FBXL17:NM_001163315:exon1:c.C463A:p.Q155K	.	306	1213	3	0	0	3	0.00123508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.941164789287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1030256441	1.621e-05	1.847e-05	1.37e-05	1.88e-05	8.605e-05	1.042e-05	8.84e-06	3.685e-05	2.525e-05	0	0	0	0	0	0	1.354e-05	1.875e-05	8.605e-05	1.322e-05	1.313e-05	2.585e-05	0	6.578e-05	2.2e-06	8.2e-07	.	.	0	0	6.578e-05	0	0	0	0	1.479e-05	0	0	0.004	0.65419	D	0.689	0.05939	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	-1.81	0.83970	D	-0.53	0.16393	N	0.119	0.10911	-0.6006	0.64792	T	0.354	0.71696	T	9	0.16950166	0.31561	T	0.941165	0.99584	D	0.230	0.53062	0.239	0.17065	0.305252298933	0.30134	0.36024577220290804	0.35938	0.830763349556	0.67613	0.854892373085	0.90351	D	0.010055	0.09113	T	0.0713953	0.61018	D	-0.135222	0.60529	T	0.267284126425486	0.23630	T	0.535446	0.17943	T	0.24914327	0.47907	0.33460155	0.59284	0.24914327	0.47907	0.33460155	0.59283	-5.388	0.40804	T	.	.	0.106	0.19760	B	.	.	3.046805	0.40863	21.2	0.97545355772446818	0.34539	0.45223	0.27491	N	ALL	0.081886	0.16574	N	-0.449211788850197	0.23767	1.278621	-0.343260723438252	0.26717	1.477616	0.999999950840391	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	2.9	2.0	0.25495	0.127000	0.15617	8.380000	0.77064	0.546000	0.25710	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7239:0.276	6.855	0.23216	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	380.83	47	chr5	108381229	.	G	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.506;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.033;SOR=0.674	GT:AD:DP:GQ:PL	0/1:30,17:47:99:391,0,786	5	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S,SEC24A:NM_021982:exon9:c.C1384T:p.P462S	.	447	1072	3	0	0	3	0.0013973	.	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	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	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-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	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	967.83	71	chr5	134682375	.	C	T	967.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.009;DP=243;ExcessHet=0;FS=2.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.474;SOR=0.444	GT:AD:DP:GQ:PL	0/1:32,39:71:99:978,0,810	5	0	1	0
chr5	140042946	140042946	-	GCT	exonic	NRG2	.	nonframeshift insertion	NRG2:NM_001184935:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_004883:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013981:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013982:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013983:exon1:c.123_124insAGC:p.S41_E42insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0047	.	0.0037	0	0.0067	0	0	0.0080	0	0.0021	0.0003458	9	26028	rs757191013	0.0011	0.0011	0.0011	0.0012	0.0035	0.0011	0.0011	0.0032	0.0030	0.0004	0.0006	0.0134	0.0004	7.187e-05	0.0026	0.0007	0.0021	0.0035	0.0010	0.0011	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0006	0	0.0003	0.0162	0.0004	0.0003	0.0035	0.0008	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	548.79	31	chr5	140042946	.	C	CGCT	548.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.041;DP=192;ExcessHet=0;FS=3.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.494;SOR=0.513	GT:AD:DP:GQ:PL	0/1:16,15:31:99:559,0,598	5	0	1	0
chr5	140669425	140669425	G	A	exonic	WDR55	.	nonsynonymous SNV	WDR55:NM_017706:exon7:c.G923A:p.R308H	.	.	.	.	.	.	.	.	.	.	.	2269315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00975098063372	.	.	2.518e-05	0	8.754e-05	0	0	1.525e-05	0	6.083e-05	1.94e-05	3	154602	rs746022130	1.368e-05	1.368e-05	1.225e-05	1.513e-05	9.275e-05	8.94e-06	7.26e-06	4.579e-05	3.272e-05	0	6.709e-05	0	0	0	0	6.295e-06	3.313e-05	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.16091	T	0.39	0.15506	T	0.002	0.09854	B	0.004	0.10090	B	0.118269	0.19120	N	0.515163	1	0.08975	N	0.82	0.20857	L	0.99	0.41750	T	-0.52	0.16187	N	0.022	0.00372	-1.0436	0.16236	T	0.071	0.28936	T	10	0.032753408	0.01433	T	0.009751	0.25449	T	0.021	0.04004	0.42	0.46200	0.258779203287	0.25495	0.3296305041413219	0.32876	0.324307487703	0.34596	0.200929120183	0.00484	T	0.055209	0.29940	T	-0.431007	0.01462	T	-0.654234	0.08660	T	0.0278864837328215	0.01671	T	0.584142	0.21248	T	0.01466834	0.00103	0.023948522	0.00409	0.01466834	0.00102	0.023948522	0.00408	-7.593	0.58262	D	.	.	0.073	0.04477	B	.	.	1.570033	0.20101	14.59	0.92548064164315713	0.21996	0.15024	0.18706	N	AEFDBHCI	0.085039	0.17238	N	-0.661862125542541	0.17115	0.8779929	-0.612338020751949	0.19176	1.02769	0.997265382276493	0.35436	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.29	-0.319	0.12094	0.668000	0.24808	.	.	-0.161000	0.11593	0.002000	0.15269	0.000000	0.08366	0.987000	0.62547	0.5387:0.128:0.3333:0.0	6.715	0.22486	176	0.93188	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1003.83	99	chr5	140669425	.	G	A	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=288;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.014;SOR=1.022	GT:AD:DP:GQ:PL	0/1:61,38:99:99:1014,0,1702	5	0	1	0
chr5	140669568	140669568	G	A	exonic	WDR55	.	nonsynonymous SNV	WDR55:NM_017706:exon7:c.G1066A:p.D356N	.	401	1120	1	0	0	1	0.000446229	.	.	.	4102030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00726287240589	.	.	8.39e-06	0	0	0	0	0	0	6.166e-05	3.84e-05	1	26028	rs760262672	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0002	1.265e-05	1.084e-05	8.887e-05	7.054e-05	2.987e-05	0	0	7.557e-05	0	0.0002	5.396e-06	4.967e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.61	0.05468	T	0.311	0.19660	T	0.001	0.07471	B	0.001	0.04355	B	0.508298	0.11872	N	0.751318	0.593035	0.31004	N	0.805	0.20218	L	1.5	0.31205	T	-0.85	0.23156	N	0.043	0.01577	-1.0437	0.16207	T	0.047	0.20116	T	10	0.06682363	0.09221	T	0.007263	0.19253	T	0.060	0.17295	.	.	0.251639045875	0.24756	0.21418877603954578	0.21334	0.255040055445	0.28090	0.486103236675	0.36898	T	0.050045	0.28483	T	-0.517468	0.00455	T	-0.721405	0.04728	T	0.0369624048471451	0.03149	T	0.760924	0.38541	T	0.023323685	0.01063	0.025804022	0.00639	0.023323685	0.01063	0.025804022	0.00639	-4.975	0.36568	T	.	.	0.093	0.14015	B	.	.	2.429089	0.31245	18.68	0.89012863140578058	0.18438	0.85657	0.44813	D	AEFDBHCI	0.328617	0.42922	N	-0.665991802025693	0.16996	0.8708458	-0.541587968401324	0.21030	1.135726	0.999146929811058	0.38563	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	2.75	0.31439	4.246000	0.58536	.	.	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.1379:0.0:0.7352:0.1269	8.226	0.30726	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	.	.	.	.	.	.	.	.	0.08333	1417.83	94	chr5	140669568	.	G	A	1417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=285;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.108;SOR=0.774	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1428,0,1050	5	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	573.83	120	chr5	140848613	.	G	A	573.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.38;DP=539;ExcessHet=0;FS=1.997;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=-5.422;QD=4.78;ReadPosRankSum=0.753;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,21:120:99:0|1:140848597_C_G:584,0,4094:140848597	5	0	1	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, 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	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.08333	438.83	120	chr5	140848623	.	C	A	438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=543;ExcessHet=0;FS=2.221;MLEAC=1;MLEAF=0.083;MQ=59.3;MQRankSum=-5.945;QD=3.66;ReadPosRankSum=-1.121;SOR=0.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,18:120:99:0|1:140848597_C_G:449,0,4214:140848597	5	0	1	0
chr5	141340836	141340836	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1865G:p.H622R,PCDHGA2:NM_032009:exon1:c.A1865G:p.H622R	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0248357121544	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005627	87	154602	rs202222956	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0054	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	9.76e-05	0.0035	0.0030	2.428e-05	0	0	0	0	0	0	0	0	0.0051	0.202	0.20230	T	0.305	0.20037	T	0.037	0.33132	B	0.072	0.41976	B	0.000535	0.43581	U	0.000000	1	0.81001	D	1.055	0.26876	L	0.77	0.49642	T	-6.96	0.93509	D	0.21	0.26837	-0.9816	0.34632	T	0.116	0.41097	T	10	0.013607442	0.00288	T	0.024836	0.47825	T	0.181	0.45247	0.738	0.87063	0.774417490788	0.77234	0.3913319132458981	0.39048	0.698038861042	0.60942	.	.	.	0.042081	0.26068	T	-0.464882	0.00916	T	-0.43918	0.28900	T	0.101806587813631	0.12554	T	0.760924	0.38541	T	0.44997874	0.64039	0.5485215	0.73899	0.44997874	0.64040	0.5485215	0.73899	-7.53	0.57891	D	.	.	0.203	0.42777	B	.;.	.;.	3.608472	0.51007	23.0	0.83649887336518924	0.14843	0.95747	0.65982	D	AEFBHI	0.427587	0.49147	N	-0.24227206795838	0.31412	1.761131	-0.147496765560598	0.33505	1.917236	0.0164244057109645	0.12830	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	3.97	0.45241	4.496000	0.60081	.	.	0.686000	0.82685	0.999000	0.42656	1.000000	0.68203	0.478000	0.28520	0.9247:0.0:0.0753:0.0	10.916	0.46348	711	0.56613	.;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	.	.	.	.	.	.	.	.	0.08333	1609.83	137	chr5	141340836	.	A	G	1609.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.909;DP=479;ExcessHet=0;FS=0.629;MLEAC=1;MLEAF=0.083;MQ=56.55;MQRankSum=-0.762;QD=11.75;ReadPosRankSum=0.559;SOR=0.636	GT:AD:DP:GQ:PL	0/1:76,61:137:99:1620,0,2048	5	0	1	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R,PCDHGA4:NM_032053:exon1:c.C1478G:p.P493R	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	3382.83	264	chr5	141356585	.	C	G	3382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.663;DP=501;ExcessHet=0;FS=0.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.581;SOR=0.728	GT:AD:DP:GQ:PL	0/1:135,129:264:99:3393,0,3622	5	0	1	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	.	.	.	.	.	.	.	.	0.1667	221.05	214	chr5	141400463	.	A	G	221.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-7.073;DP=825;ExcessHet=0.4139;FS=224.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.18;SOR=7.978	GT:AD:DP:GQ:PL	0/1:156,58:214:22:22,0,3196	4	0	2	0
chr5	141431453	141431453	G	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G694A:p.V232I,PCDHGA12:NM_032094:exon1:c.G694A:p.V232I	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0187671656912	.	0.00159744	0.0013	0	0	0	0	0	0.0011	0.0097	0.0010996	170	154602	rs201704748	0.0006	0.0006	0.0003	0.0008	0.0095	0.0006	0.0005	0.0089	0.0087	0	2.236e-05	0	0	0	0.0005	2.698e-06	0.0006	0.0095	0.0004	0.0004	0.0002	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	6.531e-05	0	0	0	0	0	0	0.0114	0.041	0.41915	D	0.064	0.46182	T	0.949	0.55135	P	0.652	0.61001	P	.	.	.	.	1	0.81001	D	2.11	0.58565	M	0.1	0.61326	T	-0.93	0.24898	N	0.323	0.36884	-0.6125	0.64300	T	0.350	0.71439	T	9	0.008258879	0.00187	T	0.018767	0.40941	T	0.334	0.65620	0.559	0.67821	0.679713862216	0.67699	0.15180183106835163	0.15102	.	.	.	.	.	0.044019	0.26686	T	-0.319656	0.06926	T	-0.223979	0.52353	T	0.196006767305303	0.20193	T	0.888211	0.61727	D	0.07671265	0.17367	0.06906135	0.14504	0.07671265	0.17366	0.06906135	0.14504	-8.42	0.64502	D	.	.	0.137	0.29887	B	.;.	.;.	3.643778	0.51676	23.1	0.99184634471449495	0.54789	0.98844	0.87601	D	AEFDGBHIJ	0.863072	0.78152	D	0.480255808093299	0.65938	4.885892	0.35643325449226	0.58895	4.063198	0.999999999998387	0.74766	0.646311	0.45356	0	0.296712	0.05252	1	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.89	4.89	0.63387	8.183000	0.89647	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0836:0.0:0.9164:0.0	11.356	0.48852	818	0.41518	.;Cadherin-like|Cadherin conserved site|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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2415.83	212	chr5	141431453	.	G	A	2415.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=474;ExcessHet=0;FS=4.837;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.403;SOR=0.527	GT:AD:DP:GQ:PL	0/1:124,88:212:99:2426,0,3362	5	0	1	0
chr5	149944307	149944307	C	A	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G367T:p.D123Y	Retinitis pigmentosa 43	0	1502	20	0	0	20	0.00661376	.	.	.	238028	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_43	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.428	0.0384823695614	.	0.000399361	0.0003	9.61e-05	0.0010	0	0	0.0003	0	0.0004	0.000304	47	154602	rs147010346	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0072	0.0065	0.0003	0.0011	3.826e-05	0	0	0.0092	0.0002	0.0008	0.0005	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	0.0003	0	0.0021	0	0	0	0.0171	0.0004	0.0005	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.905	0.64260	P	0.005353	0.32875	N	0.341323	0.99998	0.54805	D	2.755	0.80505	M	-0.53	0.70833	T	-5.47	0.85617	D	0.302	0.36464	0.090	0.83996	D	0.531	0.82617	D	10	0.07871464	0.12577	T	0.038482	0.58251	D	0.428	0.73517	.	.	0.873578027535	0.87234	0.43824783086239205	0.43741	0.443632335628	0.44285	0.373303502798	0.21304	T	0.455042	0.91789	T	-0.240516	0.15281	T	-0.18164	0.56371	T	0.152171716094017	0.17275	T	0.960104	0.86967	D	0.634843	0.74556	0.68225837	0.81324	0.634843	0.74558	0.68225837	0.81325	-13.024	0.89463	D	0.3781966217158987	0.47293	0.206	0.56831	B	.;.;.	.;.;.	4.741668	0.76480	26.5	0.99443457286554204	0.64870	0.99626	0.98117	D	AEFBI	0.851479	0.76835	D	0.730837082461304	0.81654	7.573161	0.692550730819629	0.81814	7.615195	0.999999999999874	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	6.102000	0.71139	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:1.0:0.0:0.0	17.026	0.86320	685	0.59416	.;GAF domain|GAF 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	0.005035	0.000000	0.008152	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1878.83	120	chr5	149944307	.	C	A	1878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.667;DP=345;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.39;SOR=0.818	GT:AD:DP:GQ:PL	0/1:47,73:120:99:1889,0,1153	5	0	1	0
chr5	150379715	150379715	G	T	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon16:c.G2611T:p.A871S,TCOF1:NM_001135245:exon16:c.G2611T:p.A871S,TCOF1:NM_001008657:exon17:c.G2842T:p.A948S,TCOF1:NM_001135243:exon17:c.G2842T:p.A948S,TCOF1:NM_001135244:exon17:c.G2842T:p.A948S,TCOF1:NM_001195141:exon17:c.G2842T:p.A948S,TCOF1:NM_001371623:exon17:c.G2842T:p.A948S	Treacher Collins syndrome 1, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	302417	not_provided|Treacher_Collins_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	.	0.00159744	0.0014	0	0.0006	0.0160	0	0.0001	0	0.0009	0.0011837	183	154602	rs181102251	0.0006	0.0006	0.0005	0.0006	0.0158	0.0005	0.0005	0.0147	0.0143	2.987e-05	0.0002	0	0.0158	0	0.0003	5.396e-05	0.0006	0.0011	0.0005	0.0005	0.0005	0.0006	0.0125	0.0004	0.0004	0.0101	0.0092	2.404e-05	0	0.0001	0	0.0125	0	0	0.0001	0.0009	0.0004	0.119	0.91255	T	0.282	0.23433	T	0.979	0.59044	D	0.814	0.58796	P	0.749336	0.09713	N	0.852693	1	0.08975	N	2.35	0.67516	M	-0.61	0.78860	T	-1.8	0.42763	N	0.09	0.11054	-1.0397	0.17404	T	0.085	0.33128	T	10	0.0040844083	0.00080	T	.	.	.	0.201	0.48592	.	.	0.396617757867	0.39272	0.060200875876350764	0.05960	0.384657938624	0.39763	0.329096078873	0.14797	T	0.110617	0.42544	T	-0.411214	0.01951	T	-0.349831	0.39226	T	0.0287530344698301	0.01800	T	0.782722	0.59062	T	0.08150858	0.18732	0.078368835	0.17547	0.10093527	0.23837	0.07300124	0.15812	-6.092	0.58827	T	0.560773249699394	0.62855	0.104	0.22098	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.979314	0.13568	10.09	0.94859658459434926	0.25669	0.14679	0.18529	N	AEFBCI	0.039124	0.05639	N	-0.508122515480138	0.21816	1.160587	-0.626430115225599	0.18815	1.006774	0.932173156773936	0.27078	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.0	3.1	0.34780	-0.134000	0.10415	0.884000	0.22419	-0.106000	0.15538	0.000000	0.06391	0.006000	0.19429	0.001000	0.02609	0.0:0.35:0.6499:0.0	11.538	0.49901	856	0.34373	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1233.83	87	chr5	150379715	.	G	T	1233.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.032;DP=262;ExcessHet=0;FS=2.124;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.098;SOR=0.461	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1244,0,1440	5	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	.	.	.	.	.	.	.	.	0.25	448.6	129	chr5	154834880	.	G	C	448.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.142;DP=810;ExcessHet=1.383;FS=305.479;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.852;SOR=9.712	GT:AD:DP:GQ:PL	0/1:81,30:129:94:94,0,1737	3	0	3	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	40846.1	393	chr5	157052557	.	C	*	40846.1	.	AC=4;AF=0.333;AN=12;DP=2554;ExcessHet=1.383;FS=2.719;MLEAC=4;MLEAF=0.333;MQ=60;QD=17.49;SOR=0.518	GT:AD:DP:GQ:PL	0/1:0,170:393:99:16978,9213,8646	2	0	4	0
chr5	170108190	170108190	C	T	exonic	FOXI1	.	nonsynonymous SNV	FOXI1:NM_012188:exon2:c.C716T:p.P239L	Enlarged vestibular aqueduct, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	1442011	Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0548001636533	7.7e-05	.	0.0002	0	0.0005	0	0	0.0003	0	6.057e-05	0.0001811	28	154602	rs371025378	0.0002	0.0002	0.0002	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	0.0006	3.826e-05	0	0	0.0028	0.0002	0.0004	5.797e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.22e-05	0	0.0004	0	0	0	0.0068	0.0003	0.0005	0.0002	0.317	0.13699	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.126227	0.18812	N	0.502040	0.999999	0.26806	N	-2.395	0.00075	N	-3.55	0.94834	D	-0.01	0.07155	N	0.047	0.01911	-0.5090	0.68323	T	0.368	0.72803	T	10	0.035808444	0.01848	T	0.055	0.65995	D	0.254	0.56428	.	.	0.817822398108	0.81610	0.6436249488509352	0.64297	0.175847818237	0.19797	0.380681812763	0.22353	T	0.226307	0.59129	T	-0.388197	0.02762	T	-0.433484	0.29541	T	0.0705436021089554	0.08727	T	0.121888	0.00944	T	0.036769897	0.04588	0.036067553	0.02980	0.035132688	0.04077	0.03732559	0.03361	-4.176	0.26403	T	0.06870911782740376	0.02516	0.063	0.01428	B	.	.	1.277313	0.16768	12.75	0.44469161997094164	0.03421	0.06510	0.12521	N	AEFDBHI	0.036131	0.04766	N	-1.11273688320624	0.06415	0.2952495	-0.881726235399356	0.12527	0.6448962	0.994702264199692	0.33762	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.91	3.76	0.42368	1.827000	0.38740	2.787000	0.34772	-0.660000	0.04357	0.491000	0.26886	1.000000	0.68203	0.015000	0.10482	0.0:0.153:0.0:0.847	8.894	0.34610	946	0.12043	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.002924	0.000000	0.017241	0.003049	0.000000	0.08333	1228.83	94	chr5	170108190	.	C	T	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=278;ExcessHet=0;FS=3.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.258;SOR=0.378	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1239,0,1319	5	0	1	0
chr5	176313838	176313838	A	G	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308200:exon2:c.A208G:p.N70D,SIMC1:NM_198567:exon4:c.A580G:p.N194D,SIMC1:NM_001308195:exon5:c.A1882G:p.N628D,SIMC1:NM_001308196:exon7:c.A1825G:p.N609D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0220807698191	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220101467	3.422e-06	3.42e-06	2.724e-06	4.128e-06	3.479e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	1.799e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.47320	D	0.032	0.55341	D	0.996	0.73220	D	0.987	0.77487	D	0.000358	0.45440	D	0.150979	0.766421	0.36924	D	1.905	0.50856	L	0.97	0.42502	T	-2.86	0.69714	D	0.791	0.82157	-0.7580	0.57514	T	0.208	0.56690	T	10	0.6744463	0.70906	D	0.022081	0.44930	T	0.109	0.30843	0.286	0.24440	0.74632466248	0.74404	0.4984494228325349	0.49765	0.390551317929	0.40270	0.622554898262	0.56089	T	0.193363	0.54881	T	-0.126392	0.32082	T	-0.41933	0.31152	T	0.958835244178772	0.65375	D	0.846715	0.54490	T	0.24692552	0.47666	0.30014712	0.56048	0.24692552	0.47666	0.30014712	0.56047	-8.096	0.62121	D	.	.	0.721	0.77669	P	.;.;.;.;.	.;.;.;.;.	4.531970	0.71148	25.6	0.99726993852026236	0.82477	0.94431	0.61144	D	AEFBI	0.512707	0.54081	D	0.630067448527409	0.75084	6.243994	0.638573002987356	0.77764	6.742307	0.961780481959973	0.28577	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.61	5.61	0.85347	5.606000	0.67324	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.326	0.59895	657	0.62240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1106.83	88	chr5	176313838	.	A	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=274;ExcessHet=0;FS=1.885;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.088;SOR=0.997	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1117,0,1378	5	0	1	0
chr5	181059404	181059404	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1150T:p.H384Y	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00379393	0.0091	0.0046	0	0	0	0.0074	0	0.0102	0.00174	269	154602	rs186444058	0.0093	0.0089	0.0093	0.0093	0.0104	0.0092	0.0091	0.0102	0.0102	0.0010	0.0047	0.0069	6.055e-05	0.0063	0.0077	0.0104	0.0071	0.0071	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0095	0.0093	0.0016	0.0033	0.0062	0.0072	0.0002	0.0073	0.0068	0.0102	0.0052	0.0056	0.0	0.91255	D	0.0	0.92824	D	0.204	0.29802	B	0.78	0.57283	P	0.049449	0.23159	U	0.217602	0.804617	0.29074	N	2.155	0.60227	M	-0.33	0.68329	T	-4.77	0.80425	D	0.491	0.52475	-0.3221	0.74363	T	0.270	0.64204	T	10	0.011678845	0.00254	T	.	.	.	0.462	0.75889	.	.	0.786551924775	0.78457	0.5107423983958618	0.50996	0.984627870661	0.73861	0.872152686119	0.92875	D	0.224	0.58830	T	-0.26595	0.12213	T	-0.146833	0.59525	T	0.0459653985849032	0.04777	T	0.925307	0.72522	D	0.790044	0.83275	0.8463283	0.91258	0.790044	0.83277	0.8463283	0.91259	-9.251	0.69299	D	.	.	0.138	0.30184	B	.	.	3.493665	0.48848	22.7	0.99665024118694867	0.78202	0.68061	0.33661	D	AEFDBHI	0.443193	0.50061	N	0.200396882495283	0.51219	3.304896	0.213521098429424	0.50598	3.250084	0.999999630721595	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	1.138000	0.31103	4.644000	0.44168	0.454000	0.21428	0.314000	0.25450	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	15.578	0.76153	.	.	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	rs186444058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014024	0.023810	0.003571	0.006536	0.000000	0.037500	0.011278	0.029412	0.08333	1133.83	74	chr5	181059404	.	C	T	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.597;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.367;SOR=0.646	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1144,0,766	5	0	1	0
chr5	181155769	181155769	C	T	exonic	OR2V2	.	nonsynonymous SNV	OR2V2:NM_206880:exon1:c.C827T:p.S276F	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00166654156825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	1.0	0.90584	D	0.999	0.92359	D	0.002440	0.36574	N	0.000000	0.999983	0.18198	N	3.325	0.90780	M	8.35	0.00252	T	-5.35	0.84742	D	0.63	0.64393	-1.0310	0.20131	T	0.003	0.00864	T	10	0.5989245	0.66801	D	0.001667	0.02753	T	0.098	0.28162	0.641	0.77795	0.501874446873	0.49824	0.2775742311776055	0.27670	0.442804097577	0.44231	0.379259049892	0.22151	T	0.010206	0.09237	T	-0.111428	0.34533	T	-0.397835	0.33636	T	0.969871401786804	0.68746	D	0.850515	0.53399	D	0.5340816	0.69062	0.5157201	0.72018	0.5340816	0.69063	0.5157201	0.72019	-10.017	0.74014	D	.	.	0.517	0.65328	A	.;.;.	.;.;.	3.302112	0.45331	22.1	0.99689899766884948	0.79842	0.29589	0.23861	N	AEFBI	0.097281	0.19624	N	0.336780854565476	0.58045	3.974647	0.1351147009624	0.46357	2.883095	0.977731614980252	0.29850	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.48	3.48	0.38946	2.587000	0.45793	1.845000	0.29216	0.365000	0.20147	0.352000	0.25776	0.798000	0.26924	0.002000	0.04165	0.0:1.0:0.0:0.0	12.825	0.57099	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2642.83	162	chr5	181155769	.	C	T	2642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.175;DP=447;ExcessHet=0;FS=4.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.996;SOR=0.891	GT:AD:DP:GQ:PL	0/1:69,93:162:99:2653,0,1912	5	0	1	0
chr6	7727220	7727220	C	T	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C265T:p.L89F	.	400	1121	1	0	0	1	0.000445831	.	.	.	3291237	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.924529464785	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs758074194	1.307e-05	1.505e-05	1.095e-05	1.522e-05	0.0002	8.36e-06	6.74e-06	8.54e-06	6.91e-06	3.003e-05	0	0	0	0	0.0002	1.443e-05	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.042	0.50226	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.000000	0.996528	0.43255	D	2.55	0.74443	M	-1.14	0.77843	T	-2.79	0.59059	D	0.64	0.65245	0.004	0.82341	D	0.509	0.81522	D	10	0.9033583	0.89699	D	0.924529	0.99447	D	0.611	0.84773	0.686	0.82367	0.80476949983	0.80294	0.6193815384355218	0.61871	0.705842346853	0.61421	0.801420152187	0.82179	T	0.763466	0.93610	D	0.0565607	0.59180	T	-0.156531	0.58663	T	0.992276906967163	0.82714	D	0.958304	0.84304	D	0.6110735	0.73285	0.5286435	0.72766	0.6110735	0.73286	0.5286435	0.72767	-10.13	0.74686	D	.	.	0.819	0.78201	P	.	.	4.751159	0.76717	26.6	0.99846415056425397	0.92663	0.56284	0.30078	D	AEFDBCI	0.114556	0.22558	N	0.407300648161074	0.61824	4.388727	0.272716882639522	0.53953	3.561847	0.999999583985753	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.666236	0.60216	0	0.621717	0.48901	0	.	.	3.34	2.46	0.29032	0.965000	0.28916	4.576000	0.43900	0.505000	0.23025	0.746000	0.29090	1.000000	0.68203	0.984000	0.60418	0.0:0.7904:0.0:0.2096	8.147	0.30280	888	0.27761	TGF-beta, propeptide	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1200.83	61	chr6	7727220	.	C	T	1200.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.522;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=-0.116;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,32:61:99:0|1:7727213_G_C:1211,0,1118:7727213	5	0	1	0
chr6	7880237	7880237	C	T	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon7:c.C1436T:p.A479V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.0947387561246	0.0002	0.000199681	0.0001	0.0002	8.637e-05	0.0005	0	0.0001	0	0.0002	0.0001294	20	154602	rs145889374	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	8.944e-05	0	0.0001	5.616e-05	0	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.723e-05	9.048e-05	7.012e-05	7.224e-05	0.0033	6.542e-05	0	0	0	0.0034	0.0002	0	0	0.036	0.43393	D	0.026	0.55759	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.57	0.15267	N	-2.26	0.87352	D	-3.04	0.62863	D	0.669	0.67736	0.313	0.87769	D	0.619	0.86568	D	10	0.5675964	0.65138	D	0.094739	0.76305	D	0.675	0.88013	.	.	0.803909800598	0.80207	0.5973824348196971	0.59669	0.675783368987	0.59728	0.800294876099	0.82006	T	0.841053	0.96293	D	0.0129589	0.53429	T	0.0897057	0.76225	D	0.286152046000347	0.24429	T	0.933807	0.75196	D	0.7358941	0.80058	0.41671294	0.65747	0.7358941	0.80060	0.41671294	0.65747	-8.93	0.67245	D	.	.	0.658	0.71249	P	.	.	4.965551	0.82135	27.7	0.99906040324896361	0.97651	0.94961	0.62935	D	AEFDBHCIJ	0.891440	0.82741	D	0.646701732627137	0.76155	6.434663	0.684438324513657	0.81199	7.470783	1.0	0.98316	0.645754	0.44609	0	0.573116	0.20632	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.641000	0.82513	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:1.0:0.0:0.0	19.724	0.96152	766	0.49742	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, 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	.	.	.	.	.	.	.	.	0.08333	2484.83	171	chr6	7880237	.	C	T	2484.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=350;ExcessHet=0;FS=0.579;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.831;SOR=0.779	GT:AD:DP:GQ:PL	0/1:77,94:171:99:2495,0,1773	5	0	1	0
chr6	12122289	12122289	G	C	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.G2494C:p.D832H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0299317586522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.003	0.76473	D	.	.	.	.	.	.	0.001759	0.38106	N	0.000000	1	0.81001	D	.	.	.	1.05	0.39990	T	-3.78	0.71519	D	0.836	0.83167	-0.7814	0.56224	T	0.235	0.60197	T	9	0.711081	0.73048	D	0.029932	0.52343	D	0.463	0.75956	0.229	0.15556	0.447589709634	0.44379	0.6567564013896295	0.65611	0.509262434929	0.49067	0.838412642479	0.87853	D	.	.	.	0.223765	0.76132	D	0.083647	0.75822	D	0.98434442281723	0.75685	D	0.921408	0.71494	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.79894	P	.;.	.;.	4.923677	0.81112	27.5	0.99613489441709957	0.74932	0.98434	0.82737	D	AEFBCI	0.874553	0.79748	D	0.922602696727024	0.92823	11.65002	0.925560470925783	0.96593	14.890	0.999999999999841	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	10.003000	0.99689	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	20.521	0.99225	494	0.76445	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1969.83	135	chr6	12122289	.	G	C	1969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.772;DP=322;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.74;SOR=0.772	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1980,0,1896	5	0	1	0
chr6	16327687	16327687	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G624T:p.Q208H,ATXN1:NM_000332:exon8:c.G624T:p.Q208H	Spinocerebellar ataxia 1, Autosomal dominant	9	1350	129	8	26	171	0.0509666	.	.	.	207395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	0.129593	0.0012	0.0006	0	0.0034	0	0.0003	0	0.0052	0.0042432	656	154602	rs28555263	0.0024	0.0033	0.0020	0.0028	0.0413	0.0023	0.0023	0.0385	0.0374	0.0020	0.0105	9.142e-05	0.0413	0.0016	0.0021	0.0007	0.0029	0.0163	0.0047	0.0052	0.0045	0.0049	0.0532	0.0043	0.0042	0.0455	0.0425	0.0041	0	0.0123	0	0.0532	0.0012	0	0.0013	0.0041	0.0266	1.0	0.00964	T	0.01	0.65728	D	0.676	0.41315	P	0.216	0.37572	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.48	0.55945	T	-0.04	0.07590	N	0.158	0.16447	-1.0335	0.19332	T	0.023	0.09604	T	8	0.002439618	0.00036	T	.	.	.	0.033	0.08068	0.28	0.23483	0.682607719403	0.67990	0.441849011458685	0.44101	0.386732587604	0.39963	0.477701425552	0.35740	T	0.30731	0.67946	T	-0.152963	0.27848	T	-0.457497	0.26872	T	0.0109477398476624	0.00157	T	0.238176	0.03369	T	0.087811224	0.20463	0.13609241	0.32565	0.08371379	0.19343	0.12040363	0.29055	-6.185	0.47801	T	.	.	0.146	0.32372	B	.;.	.;.	0.680744	0.10493	7.208	0.85389799262407517	0.15863	0.04058	0.09507	N	AEFBI	0.032906	0.03805	N	-1.08606790521722	0.06900	0.3189316	-1.23499025871753	0.05357	0.2550339	0.0963838370192227	0.16251	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	0.046	0.046	0.13572	0.105000	0.15169	-0.463000	0.09027	0.115000	0.17631	0.374000	0.25957	0.001000	0.17328	0.084000	0.17470	.	.	.	709	0.56835	.;.	.	.	.	.	.	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	0.119243	0.230769	0.080822	0.094675	0.200000	0.078947	0.151899	0.100000	0.08333	628.0	65	chr6	16327687	.	C	A	628.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.495;DP=316;ExcessHet=0.4139;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.114;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,24:65:99:.:.:1385,0,1161:.	5	0	1	0
chr6	22570118	22570120	GGC	-	exonic	HDGFL1	.	nonframeshift deletion	HDGFL1:NM_138574:exon1:c.543_545del:p.A188del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0163	.	0.0009	0	0	0.0029	0	0.0010	0.0125	0.0004	0.0001229	19	154602	rs751535761	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0008	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0.0002	0	0	0.0006	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	541.05	19	chr6	22570117	.	GGGC	G	541.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.426;DP=90;ExcessHet=0.4139;FS=1.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.868;SOR=0.853	GT:AD:DP:GQ:PL	0/1:8,11:19:99:438,0,303	5	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	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	.	.	.	.	.	.	.	.	0.08333	503.44	70	chr6	24145554	.	C	G	503.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,12:70:76:.:.:80,0,711:.	5	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.08333	37.83	99	chr6	29942795	.	C	T	37.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.825;DP=473;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.04;MQRankSum=-2.888;QD=0.38;ReadPosRankSum=3.21;SOR=0.687	GT:AD:DP:GQ:PL	0/1:87,12:99:48:48,0,3115	5	0	1	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	0.08333	1332.83	120	chr6	31270002	.	C	T	1332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.362;DP=770;ExcessHet=0;FS=2.351;MLEAC=1;MLEAF=0.083;MQ=58.88;MQRankSum=-1.007;QD=11.11;ReadPosRankSum=0.236;SOR=0.499	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1343,0,2013	5	0	1	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	0.08333	729.83	50	chr6	31270250	.	C	A	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.258;DP=365;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=46.7;MQRankSum=1.25;QD=14.6;ReadPosRankSum=0.136;SOR=1.27	GT:AD:DP:GQ:PL	0/1:25,25:50:99:740,0,795	5	0	1	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	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	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.08333	535.83	118	chr6	31271120	.	C	G	535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.307;DP=624;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=50.29;MQRankSum=1.02;QD=4.54;ReadPosRankSum=1.96;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,36:118:99:0|1:31271120_C_G:546,0,2955:31271120	5	0	1	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5861.45	111	chr6	31271153	.	A	*	5861.45	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=616;ExcessHet=0.7136;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=50.84;MQRankSum=-4.162;QD=15.15;ReadPosRankSum=-0.807;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,36:111:99:1|0:31271151_TCA_T:4662,3114,3074:31271151	5	0	1	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,25:187:99:0|1:31355425_T_C:514,0,6545:31355425	1	0	5	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10621.8	127	chr6	31356247	.	C	*	10621.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=542;ExcessHet=1.383;FS=1.94;MLEAC=2;MLEAF=0.167;MQ=48.46;MQRankSum=-0.988;QD=19.93;ReadPosRankSum=0.437;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,19:127:99:0|1:31356168_A_C:473,0,4449:31356168	4	0	2	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5091.76	68	chr6	31356717	.	AGGT	*	5091.76	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=307;ExcessHet=3.1439;FS=9.714;MLEAC=1;MLEAF=0.083;MQ=54.34;MQRankSum=-6.354;QD=16.59;ReadPosRankSum=-1.043;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,25:68:99:0|1:31356711_C_CGG:920,0,1730:31356711	5	0	1	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:31356739_C_A:4230,283,0:31356739	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,84:132:99:0|1:31356827_T_C:5528,2013,1763:31356827	0	3	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7740.85	55	chr6	31412384	.	G	*	7740.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=321;ExcessHet=1.383;FS=1.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=0.664;SOR=0.845	GT:AD:DP:GQ:PL	0/1:26,29:55:99:891,0,807	4	0	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,30:105:99:0|1:31625601_T_C:562,0,2524:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,30:105:99:0|1:31625601_T_C:562,0,2524:31625601	0	0	6	0
chr6	31760142	31760142	T	G	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon19:c.T1738G:p.C580G,MSH5:NM_025259:exon19:c.T1789G:p.C597G,MSH5:NM_172165:exon19:c.T1738G:p.C580G,MSH5:NM_172166:exon19:c.T1738G:p.C580G	.	416	1094	11	1	0	13	0.00590641	.	.	.	699524	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.486	0.0289692793921	0.0011	0.00279553	0.0013	0	0.0004	0.0003	0	0.0014	0.0012	0.0036	0.0012742	197	154602	rs45468693	0.0014	0.0014	0.0013	0.0014	0.0033	0.0013	0.0013	0.0028	0.0027	0.0002	0.0009	0.0010	0.0001	1.875e-05	0.0033	0.0014	0.0015	0.0031	0.0010	0.0010	0.0009	0.0010	0.0031	0.0008	0.0008	0.0019	0.0015	0.0002	0	0.0013	0.0009	0.0004	0	0	0.0014	0.0005	0.0031	0.024	0.51248	D	0.083	0.59159	T	0.029	0.19866	B	0.079	0.28749	B	0.000000	0.84330	D	0.040531	.	.	.	1.15	0.29295	L	-1.94	0.84919	D	-0.99	0.26200	N	0.452	0.50056	-0.4739	0.69587	T	0.296	0.66782	T	9	0.009291381	0.00210	T	0.028969	0.51559	D	0.486	0.77464	.	.	0.890742083621	0.88966	0.760612750991907	0.76009	0.621859587024	0.56468	.	.	.	0.139744	0.47392	T	-0.149972	0.28314	T	0.00843498	0.70881	D	0.0462700772073915	0.04833	T	.	.	.	0.5883668	0.72062	0.4820372	0.70008	0.5883668	0.72063	0.4820372	0.70008	-7.521	0.57822	D	.	.	0.132	0.28464	B	.;.;.;.;.	.;.;.;.;.	3.289429	0.45108	22.1	0.95993139600309219	0.28394	0.93247	0.57710	D	AEFGBI	0.769572	0.70479	D	0.00639656750513937	0.42146	2.534	0.177582743651184	0.48621	3.075596	0.999345140235583	0.39222	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	3.46	0.38718	4.917000	0.63068	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.2907:0.0:0.0:0.7093	9.218	0.36519	895	0.25842	.;.;.;.;.	.	.	.	.	.	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	0.002179	0.000000	0.001359	0.005319	0.000000	0.000000	0.000000	0.003788	0.08333	1528.83	103	chr6	31760142	.	T	G	1528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=284;ExcessHet=0;FS=3.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.95;SOR=1.107	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1539,0,1104	5	0	1	0
chr6	31889267	31889267	G	A	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon8:c.C1246T:p.R416W,EHMT2:NM_001363689:exon8:c.C1246T:p.R416W,EHMT2:NM_001318833:exon9:c.C448T:p.R150W,EHMT2:NM_006709:exon9:c.C1075T:p.R359W,EHMT2:NM_025256:exon9:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	3241906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0492907288026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs973080045	6.851e-07	1.368e-06	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.313e-05	1.312e-05	0	2.686e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.948	0.71173	D	0.048451	0.23250	N	0.282420	0.998087	0.44492	D	0	0.06538	N	1.16	0.38073	T	-3.96	0.77143	D	0.739	0.73916	-1.0316	0.19937	T	0.092	0.35092	T	10	0.3220681	0.49561	T	0.049291	0.63750	D	0.190	0.46781	0.162	0.06618	0.659894536258	0.65704	0.5401007565999129	0.53935	1.4130296316	0.85478	0.847793459892	0.89280	D	0.349466	0.71731	T	0.0341844	0.56280	T	-0.188673	0.55713	T	0.875190269605958	0.52505	D	.	.	.	0.084006555	0.19423	0.09876533	0.23557	0.084006555	0.19423	0.09876533	0.23557	-12.707	0.89256	D	.	.	0.862	0.80393	P	.;.;.;.	.;.;.;.	4.433474	0.68776	25.3	0.9991460369569708	0.98309	0.79214	0.39210	D	AEFDGBHCI	0.265210	0.38238	N	0.28731671970423	0.55504	3.714537	0.244286981888216	0.52325	3.408096	0.999998781611806	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.18	4.25	0.49658	1.018000	0.29604	.	.	0.676000	0.76740	0.336000	0.25640	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.6803:0.3197	10.180	0.42137	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	.	.	.	.	.	.	.	.	0.08333	1501.83	90	chr6	31889267	.	G	A	1501.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=276;ExcessHet=0;FS=6.926;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.808;SOR=1.051	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1512,0,972	5	0	1	0
chr6	31889595	31889595	A	G	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon7:c.T1043C:p.V348A,EHMT2:NM_001363689:exon7:c.T1043C:p.V348A,EHMT2:NM_001318833:exon8:c.T245C:p.V82A,EHMT2:NM_006709:exon8:c.T872C:p.V291A,EHMT2:NM_025256:exon8:c.T872C:p.V291A	.	387	1131	3	1	0	5	0.00220556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00633997664248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220147944	2.742e-06	2.736e-06	2.729e-06	2.756e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	1.321e-05	1.316e-05	0	2.707e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.237	0.17881	T	0.726	0.05901	T	0.001	0.07471	B	0.0	0.04355	B	0.036116	0.24562	N	0.335556	0.859869	0.28372	N	0	0.06538	N	3.21	0.07125	T	-0.62	0.18248	N	0.22	0.28146	-0.9123	0.46569	T	0.003	0.00897	T	10	0.056655318	0.06385	T	0.00634	0.16668	T	0.037	0.09474	0.187	0.09646	0.347879110917	0.34393	0.1427687485542135	0.14199	0.595470038845	0.54820	0.711682975292	0.68837	T	0.031145	0.21906	T	-0.273272	0.11395	T	-0.630313	0.10391	T	0.121008246690478	0.14528	T	.	.	.	0.03918023	0.05362	0.08808688	0.20516	0.03918023	0.05362	0.08808688	0.20515	-2.251	0.04490	T	.	.	0.082	0.29422	B	.;.;.;.	.;.;.;.	2.637520	0.34311	19.59	0.95055072778498539	0.26077	0.65229	0.32667	D	AEFBHCI	0.069769	0.13823	N	-0.710715667522351	0.15719	0.794699	-0.488355996548023	0.22473	1.220823	0.995759009102692	0.34306	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	2.98	0.33575	2.967000	0.48908	.	.	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.7093:0.0:0.2907:0.0	4.765	0.12500	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	.	.	.	.	.	.	.	.	0.08333	883.83	70	chr6	31889595	.	A	G	883.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.138;DP=255;ExcessHet=0;FS=1.986;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.42;SOR=0.745	GT:AD:DP:GQ:PL	0/1:35,35:70:99:894,0,917	5	0	1	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5529.95	226	chr6	32521977	.	TG	*	5529.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.354;DP=1213;ExcessHet=0.095;FS=21.521;MLEAC=2;MLEAF=0.167;MQ=50.64;MQRankSum=-3.365;QD=8.63;ReadPosRankSum=-0.822;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,26:226:99:0|1:32521972_G_C:459,0,8233:32521972	4	0	2	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6769.44	219	chr6	32521981	.	T	*	6769.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.806;DP=1195;ExcessHet=0.7136;FS=5.046;MLEAC=4;MLEAF=0.4;MQ=51.87;MQRankSum=-7.363;QD=7.31;ReadPosRankSum=-4.572;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,38:219:99:0|1:32521972_G_C:1093,0,6451:32521972	1	0	4	1
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2611.43	155	chr6	32530183	.	CTT	*	2611.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=584;ExcessHet=2.3007;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-11.28;QD=4.89;ReadPosRankSum=-1.436;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,69:155:99:0|1:32530166_A_G:2618,0,3392:32530166	5	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	17177.1	151	chr6	32530184	.	T	*	17177.1	.	AC=5;AF=0.417;AN=12;DP=695;ExcessHet=0;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=56.32;MQRankSum=-11.56;QD=25.41;ReadPosRankSum=-3.157;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,69:151:99:.:.:6263,3400,3316:.	2	1	3	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2601.9	168	chr6	32584174	.	GCC	G	2601.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=1013;ExcessHet=0.1336;FS=33.477;MLEAC=4;MLEAF=0.333;MQ=48.5;MQRankSum=-0.856;QD=6.54;ReadPosRankSum=-5.045;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,15:168:99:0|1:32584174_GCC_G:170,0,6333:32584174	3	1	2	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2163.51	168	chr6	32584176	.	CCG	*	2163.51	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3.52;DP=1110;ExcessHet=0.7136;FS=4.954;MLEAC=4;MLEAF=0.4;MQ=48.33;MQRankSum=-0.678;QD=3.63;ReadPosRankSum=0.944;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,15:168:99:0|1:32584174_GCC_G:170,0,6333:32584174	2	1	2	1
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E	.	411	1081	28	2	0	32	0.0145852	.	.	.	699552	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1939.83	160	chr6	33670361	.	C	A	1939.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.038;DP=337;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.765;SOR=0.506	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1950,0,2134	5	0	1	0
chr6	41158734	41158734	C	T	exonic	TREM2	.	nonsynonymous SNV	TREM2:NM_001271821:exon4:c.G529A:p.E177K	Nasu-Hakola disease, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	300113	TREM2-related_disorder|Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2|not_provided	.|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	7.7e-05	0.00938498	0.0049	9.619e-05	0.0002	0.0014	0	2.999e-05	0.0033	0.0349	0.0043337	670	154602	rs75272959	0.0022	0.0022	0.0014	0.0031	0.0331	0.0021	0.0021	0.0321	0.0317	5.974e-05	4.472e-05	0	0.0034	0	0.0005	2.518e-05	0.0033	0.0331	0.0011	0.0011	0.0006	0.0017	0.0319	0.0010	0.0009	0.0278	0.0262	4.812e-05	0	0	0	0.0023	0	0	2.94e-05	0.0005	0.0319	.	.	.	0.34	0.18018	T	0.218	0.30213	B	0.058	0.26451	B	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	.	.	.	0.082	0.05799	-0.9609	0.39012	T	0.008	0.02679	T	7	0.0023650825	0.00035	T	.	.	.	.	.	.	.	0.158396225186	0.15383	.	.	.	.	.	.	.	.	.	.	-0.679207	0.00049	T	-0.72195	0.04702	T	0.000528752692815193	0.00004	T	0.369163	0.08660	T	.	.	.	.	.	.	.	.	-3.744	0.19970	T	.	.	0.080	0.07937	B	.	.	-0.042338	0.03999	0.909	0.59247162826128863	0.06180	0.01504	0.04979	N	AEFDBI	0.046103	0.07616	N	-1.38611689127698	0.02767	0.122667	-1.46725577555552	0.02617	0.1206949	0.994887715536847	0.33846	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	-0.933	0.09900	-0.727000	0.05034	-0.498000	0.08819	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4289:0.3151:0.1514:0.1046	2.170	0.03611	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2218.83	142	chr6	41158734	.	C	T	2218.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.607;DP=329;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.08;SOR=0.451	GT:AD:DP:GQ:PL	0/1:61,81:142:99:2229,0,1514	5	0	1	0
chr6	41771110	41771110	G	T	exonic	FRS3	.	nonsynonymous SNV	FRS3:NM_006653:exon7:c.C988A:p.P330T	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0774967448522	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773006648	1.89e-05	1.915e-05	1.107e-05	2.69e-05	0.0002	1.294e-05	1.109e-05	0.0001	8.359e-05	0	0	0	0	0	0	1.097e-05	1.698e-05	0.0002	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.495	0.72670	M	0.98	0.42122	T	-3.25	0.65283	D	0.738	0.73826	-0.7151	0.59702	T	0.209	0.56919	T	10	0.76224446	0.76435	D	0.077497	0.72785	D	0.325	0.64725	0.35	0.34760	0.468098961252	0.46438	0.5449565335199511	0.54421	0.906391183436	0.70865	0.781323969364	0.79126	T	0.560468	0.85278	D	-0.109184	0.34903	T	-0.0942874	0.63836	T	0.804900884628296	0.46690	D	0.959504	0.84742	D	0.5804874	0.71635	0.49831277	0.70992	0.5804874	0.71636	0.49831277	0.70992	-7.898	0.60373	D	.	.	0.393	0.63239	A	.;.	.;.	4.006247	0.59070	24.1	0.99800757548361918	0.88550	0.99032	0.90231	D	AEFDBI	0.837260	0.75491	D	0.800965775932689	0.86168	8.799141	0.781635077860052	0.88487	9.601172	0.999999996105805	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	7.808000	0.84594	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	18.985	0.92742	421	0.81399	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.83	64	chr6	41771110	.	G	T	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.587;DP=239;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.463;SOR=0.551	GT:AD:DP:GQ:PL	0/1:18,46:64:99:1279,0,422	5	0	1	0
chr6	43058233	43058233	T	C	exonic	MRPL2	.	nonsynonymous SNV	MRPL2:NM_001300848:exon2:c.A97G:p.M33V,MRPL2:NM_015950:exon2:c.A97G:p.M33V	.	416	1094	11	1	0	13	0.00590641	0	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.000599042	0.0010	0	0.0004	0.0001	0	0.0007	0.0011	0.0042	0.0008473	131	154602	rs145305278	0.0006	0.0006	0.0005	0.0008	0.0059	0.0006	0.0006	0.0043	0.0038	8.969e-05	0.0005	0	0	5.616e-05	0.0059	0.0004	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0029	0.0024	7.222e-05	0	0.0007	0	0	0	0	0.0004	0	0.0043	1.0	0.00964	T	0.642	0.06925	T	0.0	0.02946	B	0.0	0.01387	B	0.182363	0.17067	N	0.576599	1	0.08975	N	-1.555	0.00461	N	1.09	0.39223	T	0.07	0.06488	N	0.085	0.09349	-0.9447	0.41863	T	0.008	0.02884	T	10	0.0025247633	0.00038	T	0.001947	0.03482	T	0.012	0.01476	.	.	0.249502417897	0.24576	0.3866599245518072	0.38580	0.144387688307	0.16313	0.387368023396	0.23299	T	0.021885	0.16970	T	-0.668485	0.00056	T	-0.733016	0.04192	T	0.0114636722903657	0.00172	T	0.415758	0.10904	T	0.060768057	0.12507	0.041092027	0.04594	0.060768057	0.12506	0.041092027	0.04593	-2.437	0.05365	T	.	.	0.052	0.01810	B	.;.;.;.	.;.;.;.	0.428574	0.07991	4.705	0.6098693870133346	0.06597	0.01649	0.05298	N	AEFBCI	0.042830	0.06694	N	-1.31040730951464	0.03555	0.1590174	-1.18006528448936	0.06244	0.2999148	0.999432029687987	0.39683	0.722319	0.85440	0	0.662677	0.63036	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.99	0.934	0.18602	0.445000	0.21392	0.738000	0.21138	-0.278000	0.06506	0.844000	0.30348	0.997000	0.33255	0.344000	0.25523	0.3006:0.4121:0.0:0.2872	3.431	0.06999	220	0.91454	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.003049	0.003788	0.08333	831.83	44	chr6	43058233	.	T	C	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=214;ExcessHet=0;FS=2.836;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.772;SOR=1.207	GT:AD:DP:GQ:PL	0/1:17,27:44:99:842,0,387	5	0	1	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N,TJAP1:NM_001146020:exon5:c.G223A:p.D75N,TJAP1:NM_001350564:exon5:c.G223A:p.D75N,TJAP1:NM_001350566:exon5:c.G223A:p.D75N,TJAP1:NM_001350568:exon5:c.G223A:p.D75N,TJAP1:NM_001146016:exon6:c.G223A:p.D75N,TJAP1:NM_001146019:exon6:c.G223A:p.D75N,TJAP1:NM_001350562:exon6:c.G223A:p.D75N,TJAP1:NM_001350563:exon6:c.G223A:p.D75N,TJAP1:NM_001350565:exon6:c.G223A:p.D75N,TJAP1:NM_001350567:exon6:c.G223A:p.D75N,TJAP1:NM_001350569:exon6:c.G223A:p.D75N,TJAP1:NM_080604:exon6:c.G223A:p.D75N,TJAP1:NM_001146018:exon7:c.G223A:p.D75N,TJAP1:NM_001350561:exon7:c.G223A:p.D75N,TJAP1:NM_001350570:exon7:c.G223A:p.D75N	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.020202	0.012228	0.002924	0.000000	0.000000	0.012195	0.000000	0.08333	1505.83	127	chr6	43501620	.	G	A	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.949;DP=319;ExcessHet=0;FS=3.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.125;SOR=0.465	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1516,0,1784	5	0	1	0
chr6	44282504	44282504	C	T	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon4:c.G902A:p.R301Q	.	428	1091	3	0	0	3	0.001373	.	.	.	3615967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0199469557482	.	.	6.72e-05	0	0	0	0	6.093e-05	0	0.0003	5.17e-05	8	154602	rs369127426	9.489e-05	9.508e-05	8.623e-05	0.0001	0.0002	8.176e-05	7.69e-05	0.0001	0.0001	0	0	0	0	0	0	0.0001	6.63e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.246	0.17353	T	0.252	0.23570	T	0.918	0.50838	P	0.312	0.41466	B	0.000414	0.44736	D	0.219738	1	0.19238	N	.	.	.	0.7	0.51474	T	-0.78	0.21644	N	0.361	0.40264	-1.1000	0.04091	T	0.048	0.20395	T	10	0.097952515	0.17676	T	0.019947	0.42439	T	0.072	0.21020	0.378	0.39319	0.0482279557977	0.04254	0.20456263015521084	0.20373	0.625226995545	0.56702	0.246758043766	0.03434	T	0.004911	0.04332	T	-0.327179	0.06328	T	-0.448067	0.27912	T	0.183024182915688	0.19424	T	0.747625	0.36808	T	0.098219626	0.23164	0.087284364	0.20278	0.098219626	0.23164	0.087284364	0.20278	-4.448	0.30203	T	.	.	0.102	0.17995	B	.	.	3.269683	0.44751	22.0	0.99441378138274494	0.64770	0.07937	0.13923	N	AEFBI	0.117674	0.23042	N	-0.327871712625251	0.28092	1.546718	-0.412582763744037	0.24627	1.34967	0.00464359076343471	0.10654	0.549168	0.22868	0	0.627178	0.54094	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	5.37	3.58	0.40133	0.518000	0.22554	0.820000	0.21843	0.599000	0.40250	0.010000	0.18352	0.247000	0.23892	0.991000	0.66497	0.0:0.7857:0.0:0.2143	10.030	0.41269	729	0.54495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1688.83	107	chr6	44282504	.	C	T	1688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.304;DP=314;ExcessHet=0;FS=1.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=1.14;SOR=0.888	GT:AD:DP:GQ:PL	0/1:42,65:107:99:1699,0,996	5	0	1	0
chr6	52025252	52025252	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4558A:p.V1520M,PKHD1:NM_170724:exon32:c.G4558A:p.V1520M	Polycystic kidney and hepatic disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1567458	not_provided|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.299	0.0644818708987	0.0002	.	6.606e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs201858937	4.857e-05	4.857e-05	4.22e-05	5.5e-05	3.058e-05	3.926e-05	3.605e-05	2.201e-05	1.942e-05	0	0	0.0011	0	0	0	3.058e-05	0.0001	0	3.285e-05	3.283e-05	3.853e-05	2.69e-05	1.47e-05	1.261e-05	7.98e-06	.	.	0	0	0	0.0009	0	0	0	1.47e-05	0.0005	0	0.044	0.42783	D	0.0	0.92824	D	0.918	0.50838	P	0.554	0.49340	P	0.030683	0.25272	N	0.387947	0.95051	0.26502	N	2.3	0.65703	M	-1.27	0.79277	T	-2.3	0.51157	N	0.249	0.28146	-0.7727	0.56709	T	0.263	0.63458	T	10	0.10766226	0.20008	T	0.064482	0.69290	D	0.299	0.61955	.	.	0.592856498712	0.58963	0.50468189006787	0.50390	0.265442073576	0.29100	0.36001688242	0.19389	T	0.501298	0.82155	D	-0.178905	0.23900	T	-0.338395	0.40526	T	0.165895982389791	0.18296	T	0.728227	0.34274	T	0.082700655	0.19064	0.13507089	0.32350	0.082700655	0.19063	0.13507089	0.32349	-4.401	0.29571	T	0.4721461798847437	0.55239	0.162	0.35746	B	.;.	.;.	2.787076	0.36630	20.3	0.99551247897618389	0.71148	0.76313	0.37418	D	AEFBI	0.200567	0.32729	N	-0.0449799019014874	0.39828	2.355045	-0.0989434719033763	0.35434	2.049996	0.0249232909533647	0.13613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	2.86	0.32427	1.454000	0.34789	1.651000	0.27846	0.599000	0.40250	0.840000	0.30285	0.999000	0.35428	0.854000	0.40426	0.1474:0.7429:0.0:0.1097	8.196	0.30558	775	0.48401	IPT 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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	3162.04	96	chr6	52025252	.	C	T	3162.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.94;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3182,287,0	5	1	0	0
chr6	83922447	83922447	A	G	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon9:c.A668G:p.H223R	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0063098574594	0.0016	0.000798722	0.0013	0.0004	0.0008	0	0.0002	0.0021	0	0.0002	0.0013777	213	154602	rs141290525	0.0020	0.0021	0.0021	0.0020	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0008	0.0014	0	0.0004	0.0014	0.0025	0.0013	0.0003	0.0016	0.0016	0.0017	0.0014	0.0030	0.0014	0.0013	0.0026	0.0025	0.0004	0	0.0008	0.0014	0	0.0002	0	0.0030	0.0005	0	0.092	0.31682	T	0.629	0.07220	T	0.005	0.12996	B	0.009	0.14300	B	0.156288	0.17804	N	0.627318	0.919918	0.36647	D	2.17	0.60663	M	2.46	0.14907	T	-1.81	0.42575	N	0.292	0.33030	-1.0412	0.16951	T	0.014	0.05369	T	10	0.012358844	0.00266	T	0.00631	0.16580	T	0.038	0.09825	.	.	0.408714661073	0.40485	0.4667869915393243	0.46597	0.178612203484	0.20098	0.421492695808	0.28042	T	0.038854	0.24988	T	-0.513103	0.00482	T	-0.513178	0.20988	T	0.0169769176700854	0.00447	T	0.591441	0.21800	T	0.1002087	0.23659	0.0927459	0.21873	0.1002087	0.23658	0.0927459	0.21872	-7.142	0.55064	T	.	.	0.069	0.03162	B	.	.	2.011449	0.25557	16.81	0.92477621986771208	0.21909	0.83906	0.42997	D	AEFBI	0.173607	0.30069	N	-0.277047541581094	0.30036	1.671149	-0.117198161193884	0.34697	1.99877	0.0172647236627468	0.12931	0.706298	0.61202	0	0.708844	0.79440	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.22	4.06	0.46572	1.618000	0.36565	5.026000	0.46786	0.751000	0.87719	0.999000	0.42656	1.000000	0.68203	0.978000	0.57271	0.8232:0.0:0.1768:0.0	6.861	0.23246	499	0.76092	CS domain|CS domain|Cytochrome b5 reductase 4, p23 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	0.008621	0.000000	0.000000	0.08333	469.83	46	chr6	83922447	.	A	G	469.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.573;DP=220;ExcessHet=0;FS=2.454;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.596;SOR=0.937	GT:AD:DP:GQ:PL	0/1:25,21:46:99:480,0,661	5	0	1	0
chr6	88057692	88057692	C	T	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon3:c.C346T:p.R116C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0232867229561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021094748	9.578e-06	9.577e-06	8.169e-06	1.1e-05	0.0003	5.56e-06	4.35e-06	6.094e-05	2.522e-05	0	0	0	0	1.872e-05	0.0003	6.296e-06	3.312e-05	2.319e-05	1.973e-05	1.971e-05	2.571e-05	1.347e-05	6.55e-05	5.25e-06	2.46e-06	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000229	0.47286	D	0.087437	0.974275	0.39091	D	2.31	0.66127	M	1.86	0.24285	T	-5.82	0.88289	D	0.706	0.70966	-1.0518	0.13899	T	0.095	0.35950	T	10	0.7157413	0.73334	D	0.023287	0.46242	T	0.166	0.42578	0.335	0.32329	0.37097340754	0.36704	0.3159512123096082	0.31508	0.53708369229	0.51022	0.416674137115	0.27380	T	0.268	0.63986	T	-0.0440527	0.45346	T	-0.204201	0.54249	T	0.990337133407593	0.80552	D	0.889011	0.61998	D	0.3996998	0.60711	0.26777232	0.52638	0.3996998	0.60712	0.26777232	0.52637	-6.319	0.48872	T	.	.	0.485	0.63914	A	.	.	4.830704	0.78774	27.0	0.99919494299497658	0.98654	0.63051	0.31969	D	AEFBI	0.243644	0.36489	N	0.489201292129308	0.66457	4.952701	0.410534165867855	0.62220	4.433872	1.80103794918412E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.58	0.56077	0.822000	0.27007	4.105000	0.41886	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.289000	0.24236	0.2198:0.6977:0.0:0.0825	8.502	0.32326	396	0.82953	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	540.83	47	chr6	88057692	.	C	T	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.528;DP=226;ExcessHet=0;FS=4.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.767;SOR=0.907	GT:AD:DP:GQ:PL	0/1:23,24:47:99:551,0,541	5	0	1	0
chr6	105124621	105124621	T	C	exonic	BVES	.	nonsynonymous SNV	BVES:NM_001199563:exon5:c.A574G:p.N192D,BVES:NM_007073:exon5:c.A574G:p.N192D,BVES:NM_147147:exon5:c.A574G:p.N192D	.	433	1088	1	0	0	1	0.000459348	.	.	.	735311	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2X|not_provided	MONDO:MONDO:0014782,MedGen:C5568138,OMIM:616812,Orphanet:476084|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0144632673405	0.0004	.	0.0007	9.656e-05	0.0047	0	0	0.0003	0.0022	0.0002	0.0005563	86	154602	rs145098126	0.0002	0.0002	0.0003	0.0002	0.0022	0.0002	0.0002	0.0019	0.0017	0	0.0022	3.828e-05	0	9.366e-05	0.0021	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	9.746e-05	8.26e-05	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0	0.0002	0	0	0.228	0.18434	T	0.28	0.21678	T	0.238	0.30817	B	0.079	0.28749	B	0.000000	0.84330	D	0.084158	0.998586	0.45122	D	1.67	0.42885	L	1.55	0.29866	T	-0.99	0.26200	N	0.682	0.76203	-1.0698	0.09458	T	0.026	0.11087	T	10	0.019834667	0.00448	T	0.014463	0.34591	T	0.088	0.25558	.	.	0.249502417897	0.24576	0.5969015640672728	0.59621	0.772935468842	0.64867	0.848067164421	0.89322	D	0.077263	0.35612	T	-0.429735	0.01488	T	-0.396845	0.33751	T	0.0268169566673437	0.01518	T	0.888511	0.61827	D	0.24707338	0.47682	0.22634983	0.47609	0.24774644	0.47755	0.2104409	0.45429	-7.253	0.55861	T	0.3130306903783572	0.41097	0.413	0.60286	A	.;.;.	.;.;.	3.978163	0.58465	24.0	0.9943939254768015	0.64670	0.96606	0.69985	D	AEFBI	0.732660	0.67935	D	0.0918928181438657	0.46086	2.85443	0.285510563929457	0.54693	3.633485	0.998944924732894	0.38034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.86	5.86	0.93936	6.214000	0.72143	7.744000	0.68046	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.072:0.0:0.928	10.563	0.44348	830	0.39242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1437.83	105	chr6	105124621	.	T	C	1437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.693;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1448,0,1254	5	0	1	0
chr6	107633860	107633860	A	T	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1016T:p.N339I	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0133169445375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.127	0.35082	T	0.804	0.45171	P	0.32	0.41729	B	0.000055	0.53742	D	0.124916	0.964347	0.38401	D	1.1	0.28011	L	1.43	0.32958	T	-1.09	0.28290	N	0.631	0.64478	-1.0983	0.04303	T	0.029	0.12365	T	10	0.37333962	0.53644	T	0.013317	0.32631	T	0.085	0.24743	0.209	0.12639	0.19670166235	0.19296	0.6296427080320632	0.62898	.	.	0.503532767296	0.39319	T	0.085161	0.37440	T	-0.0185324	0.49063	T	-0.264397	0.48385	T	0.679616332054138	0.39770	D	0.836816	0.50885	T	0.36522967	0.58230	0.2473276	0.50261	0.36522967	0.58231	0.2473276	0.50260	-5.532	0.42166	T	.	.	0.109	0.20780	B	.	.	3.809384	0.54942	23.5	0.98915901469548262	0.48454	0.88006	0.47750	D	AEFDBI	0.340014	0.43697	N	0.216608339160643	0.52004	3.377451	0.323543234418872	0.56927	3.85686	0.999998521215564	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	5.7	4.47	0.53770	3.852000	0.55642	9.015000	0.78558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8608:0.1392:0.0:0.0	12.506	0.55325	733	0.53988	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1964.83	187	chr6	107633860	.	A	T	1964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=375;ExcessHet=0;FS=5.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.461;SOR=1.051	GT:AD:DP:GQ:PL	0/1:111,76:187:99:1975,0,2830	5	0	1	0
chr6	111087886	111087886	A	G	exonic	SLC16A10	.	nonsynonymous SNV	SLC16A10:NM_018593:exon1:c.A134G:p.K45R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.124440767903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.997253	0.22732	N	2.19	0.61577	M	0.62	0.53302	T	-0.61	0.18042	N	0.062	0.03392	-1.0716	0.09065	T	0.031	0.13199	T	9	0.11129576	0.20835	T	0.124441	0.80580	D	0.057	0.16321	0.281	0.23642	0.409533910539	0.40566	0.17886217543840707	0.17805	0.384759530948	0.39774	0.912168562412	0.97671	D	0.008934	0.08170	T	-0.302037	0.08469	T	-0.671631	0.07505	T	0.122155121579375	0.14638	T	0.574243	0.20591	T	0.054091558	0.10330	0.063850656	0.12709	0.054091558	0.10329	0.063850656	0.12709	-4.25	0.27470	T	.	.	0.088	0.12655	B	.;.	.;.	2.849338	0.37614	20.5	0.99233578614770834	0.56310	0.35308	0.25271	N	AEFDBHCI	0.104587	0.20923	N	-0.522674443064283	0.21347	1.132281	-0.386494090232371	0.25399	1.396538	0.999695172150277	0.41870	0.56387	0.32371	0	0.56911	0.20461	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.36	1.97	0.25278	1.756000	0.38018	3.508000	0.38821	0.617000	0.49538	0.957000	0.33433	1.000000	0.68203	0.104000	0.18471	0.6897:0.1467:0.1637:0.0	5.478	0.16000	583	0.69484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	287.84	24	chr6	111087886	.	A	G	287.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.091;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-2.256;SOR=0.392	GT:AD:DP:GQ:PL	0/1:14,10:24:99:298,0,439	5	0	1	0
chr6	117387836	117387836	G	A	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon13:c.C1958T:p.S653F,ROS1:NM_001378891:exon14:c.C1943T:p.S648F,ROS1:NM_001378902:exon14:c.C1943T:p.S648F	.	423	1080	19	0	0	19	0.0087196	.	.	.	721687	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.114952651211	0.0047	0.00219649	0.0042	0.0009	0.0021	0	0.0054	0.0058	0.0044	0.0033	0.0042432	656	154602	rs34203286	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0053	0.0053	0.0008	0.0015	0.0001	0	0.0078	0.0057	0.0054	0.0030	0.0034	0.0035	0.0035	0.0037	0.0033	0.0057	0.0032	0.0031	0.0052	0.0050	0.0006	0	0.0014	0	0.0006	0.0067	0	0.0057	0.0024	0.0040	0.001	0.78490	D	0.003	0.76473	D	0.994	0.66517	D	0.928	0.66279	D	0.002413	0.36612	N	0.195249	0.999895	0.50595	D	2.32	0.66415	M	-2.0	0.85393	D	-3.41	0.68651	D	0.816	0.81162	0.289	0.87388	D	0.613	0.86292	D	10	0.02112943	0.00500	T	0.114953	0.79398	D	0.422	0.73078	.	.	0.644821044561	0.64188	0.8021300788229225	0.80167	0.213380235429	0.23852	0.53136920929	0.43228	T	0.426035	0.77595	T	0.0293118	0.55631	T	0.278723	0.87057	D	0.0213073729332243	0.00832	T	0.870113	0.57479	D	0.3534043	0.57330	0.42678654	0.66445	0.34055412	0.56323	0.44890276	0.67919	-9.397	0.70216	D	0.7435229259330862	0.82561	0.420	0.62849	A	.;.	.;.	4.790111	0.77721	26.8	0.99816200084519258	0.89973	0.87385	0.46908	D	AEFBCI	0.720315	0.67092	D	0.659882239046753	0.77011	6.593096	0.64781511141272	0.78446	6.878302	0.896343261165881	0.25976	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	4.32	0.50899	5.808000	0.68834	9.481000	0.80883	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8436:0.1564	13.330	0.59918	699	0.57969	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	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	1481.83	103	chr6	117387836	.	G	A	1481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.312;DP=286;ExcessHet=0;FS=1.589;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.548;SOR=0.865	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1492,0,1309	5	0	1	0
chr6	117907857	117907857	C	T	exonic	SLC35F1	.	nonsynonymous SNV	SLC35F1:NM_001029858:exon1:c.C131T:p.S44F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.416107114719	.	.	6.995e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs774467377	1.38e-05	1.573e-05	7.213e-06	2.047e-05	0.0002	8.83e-06	7.11e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.145	0.33000	T	0.214	0.30086	B	0.064	0.27215	B	0.067442	0.21740	N	0.351756	0.850927	0.35221	D	0.55	0.14455	N	.	.	.	-0.13	0.08971	N	0.205	0.22742	-1.0395	0.17465	T	0.056	0.23753	T	9	0.11365241	0.21357	T	0.416107	0.93698	D	0.047	0.12962	0.356	0.35734	0.170165803431	0.16609	0.4312148671647393	0.43038	0.659462829164	0.58806	0.865808427334	0.91963	D	0.013054	0.11362	T	-0.352766	0.04555	T	-0.454357	0.27215	T	0.17807227497661	0.19113	T	0.559044	0.19511	T	0.20769082	0.42982	0.13349572	0.32010	0.20769082	0.42982	0.13349572	0.32010	-6.113	0.47215	T	.	.	0.137	0.29806	B	.	.	3.005596	0.40175	21.1	0.99237131013976865	0.56405	0.41372	0.26642	N	AEFDBCIJ	0.113333	0.22367	N	-0.106835704123332	0.37094	2.153271	0.0430182497649191	0.41737	2.512406	0.999996348478783	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.41	4.41	0.52588	3.920000	0.56158	7.217000	0.57836	0.520000	0.23804	0.768000	0.29334	1.000000	0.68203	0.991000	0.66497	0.0:0.8311:0.1689:0.0	12.494	0.55258	473	0.77910	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	471.83	51	chr6	117907857	.	C	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.614;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.1;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,20:51:99:482,0,817	5	0	1	0
chr6	130441129	130441129	G	C	exonic	TMEM200A	.	nonsynonymous SNV	TMEM200A:NM_001258276:exon2:c.G707C:p.G236A,TMEM200A:NM_001258278:exon2:c.G707C:p.G236A,TMEM200A:NM_052913:exon2:c.G707C:p.G236A,TMEM200A:NM_001258277:exon3:c.G707C:p.G236A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00208033359097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.01387	B	0.025453	0.26086	N	0.461257	1	0.08975	N	0	0.06538	N	.	.	.	-0.17	0.09627	N	0.045	0.02088	-0.9829	0.34328	T	0.008	0.02801	T	9	0.018843532	0.00414	T	0.00208	0.03828	T	0.078	0.22779	0.194	0.10571	0.043077524339	0.03247	0.13983549067145995	0.13906	0.153597724265	0.17329	0.345865666866	0.17312	T	0.022495	0.17335	T	-0.315655	0.07260	T	-0.691193	0.06321	T	0.0436226419368104	0.04351	T	0.186181	0.01938	T	0.023328025	0.01063	0.032750897	0.02059	0.023328025	0.01063	0.032750897	0.02058	-3.339	0.14245	T	.	.	0.071	0.03887	B	.;.;.;.	.;.;.;.	-0.282855	0.02694	0.350	0.42268041960398978	0.03104	0.16880	0.19591	N	AEFBI	0.248339	0.36876	N	-1.48081078376005	0.01985	0.08720208	-1.45815572290279	0.02697	0.1245321	0.428678185329924	0.20352	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.69	-3.55	0.04343	0.044000	0.13876	0.583000	0.19728	-0.708000	0.03965	0.020000	0.19661	0.004000	0.18990	0.576000	0.30797	0.5575:0.0989:0.2431:0.1004	5.061	0.13896	776	0.48302	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2106.83	177	chr6	130441129	.	G	C	2106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.104;DP=362;ExcessHet=0;FS=7.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.533;SOR=0.358	GT:AD:DP:GQ:PL	0/1:99,78:177:99:2117,0,2793	5	0	1	0
chr6	135457653	135457653	C	T	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon7:c.G992A:p.S331N,AHI1:NM_001134832:exon8:c.G992A:p.S331N,AHI1:NM_017651:exon8:c.G992A:p.S331N,AHI1:NM_001134831:exon9:c.G992A:p.S331N,AHI1:NM_001350503:exon9:c.G992A:p.S331N,AHI1:NM_001350504:exon9:c.G992A:p.S331N	Joubert syndrome-3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1526785	Joubert_syndrome	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.029067978339	.	0.000199681	0.0001	0	0	0	0	1.498e-05	0	0.0009	0.00011	17	154602	rs567183382	8.62e-05	8.619e-05	4.356e-05	0.0001	0.0012	7.354e-05	6.904e-05	0.0010	0.0009	2.987e-05	0	3.827e-05	0	0	0	1.259e-05	0.0001	0.0012	3.941e-05	3.937e-05	1.285e-05	6.716e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.254	0.19157	T	0.406	0.14725	T	0.998	0.73220	D	0.852	0.64260	P	0.122681	0.18947	N	0.576691	0.958795	0.26211	N	1.1	0.28011	L	0.36	0.58755	T	-0.72	0.20358	N	0.168	0.19055	-0.8236	0.53708	T	0.212	0.57214	T	10	0.052326232	0.05250	T	0.029068	0.51642	D	0.143	0.38195	0.406	0.43902	0.720338154515	0.71787	0.12602069186062734	0.12528	0.0414141563803	0.04446	0.284454315901	0.08122	T	0.136035	0.46818	T	-0.474101	0.00802	T	-0.510137	0.21301	T	0.273757249116898	0.23907	T	0.815518	0.47040	T	0.080307	0.18394	0.081791796	0.18616	0.080307	0.18394	0.081791796	0.18616	-4.469	0.30481	T	0.1405227430925817	0.15731	0.102	0.27313	B	.;.;.;.	.;.;.;.	2.787953	0.36639	20.3	0.99541377747222515	0.70523	0.87427	0.46963	D	AEFBI	0.309271	0.41562	N	0.387549221822109	0.60746	4.267081	0.351692542836365	0.58608	4.032505	0.999947204458916	0.47345	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.5	4.55	0.55429	2.008000	0.40513	3.363000	0.37875	0.545000	0.25583	0.818000	0.29961	1.000000	0.68203	0.970000	0.54328	0.3298:0.6702:0.0:0.0	10.534	0.44183	698	0.58074	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.08333	904.83	80	chr6	135457653	.	C	T	904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=264;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=2.03;SOR=0.501	GT:AD:DP:GQ:PL	0/1:43,37:80:99:915,0,1094	5	0	1	0
chr6	138911287	138911287	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon14:c.C1783T:p.P595S,REPS1:NM_001128617:exon16:c.C1975T:p.P659S,REPS1:NM_001286611:exon17:c.C2056T:p.P686S,REPS1:NM_031922:exon17:c.C2053T:p.P685S	.	428	1086	7	1	0	9	0.00412655	.	.	.	626156	REPS1-related_disorder|Neurodegeneration_with_brain_iron_accumulation_7|not_provided	.|MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	0.0117638402873	0.0015	0.00119808	0.0013	0.0003	0.0009	0	0	0.0021	0.0022	0.0003	0.0013066	202	154602	rs144226246	0.0016	0.0016	0.0016	0.0017	0.0040	0.0016	0.0015	0.0027	0.0023	0.0003	0.0017	0.0113	0	0.0001	0.0040	0.0016	0.0023	0.0005	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0012	0.0141	0	0	0.0068	0.0014	0.0005	0.0008	0.107	0.29554	T	0.344	0.18732	T	0.03	0.38028	B	0.013	0.38015	B	0.001765	0.38052	N	0.268813	0.979802	0.81001	D	-0.205	0.04094	N	1.56	0.30669	T	-1.39	0.42191	N	0.479	0.56833	-1.0361	0.18513	T	0.018	0.07470	T	10	0.00639382	0.00145	T	0.011764	0.29704	T	0.178	0.44724	.	.	0.20808081866	0.20439	0.08486331132841375	0.08420	0.254390484647	0.28010	0.470694065094	0.34776	T	0.214761	0.57643	T	-0.357278	0.04286	T	-0.304996	0.44194	T	0.0186419217957266	0.00578	T	0.884611	0.60805	D	0.07976423	0.18239	0.07931246	0.17843	0.08661737	0.20138	0.07794004	0.17409	-2.957	0.10052	T	0.1393074874601666	0.15491	0.067	0.04806	B	.;.;.;.;.	.;.;.;.;.	3.364269	0.46465	22.3	0.98620663450897494	0.43771	0.98695	0.85684	D	AEFBI	0.676370	0.64143	D	-0.167214858411733	0.34505	1.970286	0.0765075659218673	0.43369	2.640152	0.999177448897513	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	4.382000	0.59360	8.694000	0.78086	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.418	0.87399	919	0.19497	.;.;.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.010870	0.000000	0.050000	0.008621	0.009202	0.007576	0.08333	509.83	45	chr6	138911287	.	G	A	509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=224;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.206;SOR=1.003	GT:AD:DP:GQ:PL	0/1:25,20:45:99:520,0,599	5	0	1	0
chr6	149836280	149836280	T	C	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon5:c.A1057G:p.M353V	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0194211936555	0.0038	0.000998403	0.0053	0.0008	0.0036	0	0.0035	0.0081	0.0099	0.0013	0.0051099	790	154602	rs147922549	0.0053	0.0053	0.0055	0.0051	0.0073	0.0052	0.0052	0.0060	0.0059	0.0010	0.0034	0.0064	0	0.0035	0.0073	0.0061	0.0056	0.0010	0.0038	0.0038	0.0039	0.0036	0.0062	0.0035	0.0034	0.0057	0.0055	0.0010	0.0011	0.0025	0.0078	0	0.0027	0.0136	0.0062	0.0061	0.0004	0.139	0.25768	T	0.389	0.15554	T	0.065	0.23521	B	0.016	0.17743	B	0.055900	0.22605	N	0.516989	0.999999	0.08975	N	2.3	0.65703	M	3.71	0.04046	T	-0.7	0.19933	N	0.121	0.11197	-0.4546	0.70248	T	0.491	0.80678	T	10	0.00405249	0.00079	T	0.019421	0.41777	T	0.062	0.17934	.	.	0.104622674875	0.10061	0.273339541682897	0.27246	0.323490542658	0.34515	0.278560519218	0.07293	T	0.001687	0.01111	T	-0.634774	0.00089	T	-0.676624	0.07191	T	0.00641814236293092	0.00071	T	0.523548	0.17131	T	0.03549739	0.04190	0.043645617	0.05476	0.03549739	0.04190	0.043645617	0.05476	-2.109	0.03622	T	.	.	0.083	0.09094	B	.	.	1.229621	0.16240	12.41	0.37671373882032005	0.02496	0.33756	0.24905	N	AEFBI	0.078940	0.15936	N	-0.841319847029646	0.12263	0.5967464	-0.816018951930973	0.14107	0.7354316	0.989449160144716	0.31828	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	-0.98	0.09747	1.220000	0.32095	0.002000	0.13306	-0.122000	0.13826	0.931000	0.32310	0.003000	0.18671	0.660000	0.32968	0.1345:0.2234:0.1318:0.5103	1.383	0.02100	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	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	0.006793	0.002924	0.000000	0.017241	0.000000	0.007576	0.08333	827.83	70	chr6	149836280	.	T	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.56;DP=241;ExcessHet=0;FS=1.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.953;SOR=1.022	GT:AD:DP:GQ:PL	0/1:42,28:70:99:838,0,1205	5	0	1	0
chr6	149889459	149889459	A	G	exonic	RAET1E	.	nonsynonymous SNV	RAET1E:NM_001243325:exon3:c.T403C:p.W135R,RAET1E:NM_001243327:exon3:c.T511C:p.W171R,RAET1E:NM_139165:exon3:c.T511C:p.W171R,RAET1E:NM_001243328:exon4:c.T511C:p.W171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.017198776298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.991	0.86255	D	0.017553	0.27695	N	0.182540	0.992675	0.23844	N	.	.	.	0.43	0.56772	T	-12.36	0.99830	D	0.644	0.70351	-0.7783	0.56398	T	0.260	0.63033	T	10	0.9764929	0.97440	D	0.017199	0.38801	T	0.307	0.62838	0.88	0.96835	0.79015365589	0.78820	0.6778243627391832	0.67721	0.553234154126	0.52099	0.39996689558	0.25065	T	0.143053	0.47896	T	0.145305	0.68828	D	-0.0290564	0.68431	D	0.999616026878357	0.98162	D	0.643636	0.25529	T	0.71864164	0.79086	0.7685592	0.86332	0.71864164	0.79087	0.7685592	0.86333	-6.363	0.52841	T	.	.	0.822	0.79416	P	.;.;.;.	.;.;.;.	3.081778	0.41459	21.4	0.97431925585320589	0.33931	0.19217	0.20574	N	AEFDGBHCI	0.101441	0.20374	N	0.23029699912159	0.52672	3.439913	0.0101339749478177	0.40184	2.394183	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.81	3.81	0.43020	3.149000	0.50351	2.358000	0.32355	0.686000	0.82685	0.039000	0.20931	0.002000	0.18203	0.112000	0.18829	1.0:0.0:0.0:0.0	9.303	0.37020	401	0.82673	.;MHC class I-like antigen recognition-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	.	.	.	.	.	.	.	.	0.08333	1682.83	142	chr6	149889459	.	A	G	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.776;DP=320;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.618;SOR=0.884	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1693,0,1813	5	0	1	0
chr6	152353298	152353298	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon69:c.A11173G:p.T3725A,SYNE1:NM_182961:exon69:c.A11218G:p.T3740A	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	266351	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|Arthrogryposis_multiplex_congenita_3,_myogenic_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.00733501770578	0.0005	.	0.0005	9.612e-05	8.637e-05	0	0.0002	0.0008	0	0	0.000414	64	154602	rs144797744	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	2.987e-05	6.708e-05	3.826e-05	2.519e-05	0.0002	0.0003	0.0006	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0005	0.0005	4.826e-05	0	0.0001	0	0	0	0	0.0007	0.0005	0	0.03	0.46129	D	0.04	0.65728	D	0.006	0.13644	B	0.003	0.08700	B	0.101887	0.19818	N	0.495207	0.999956	0.19072	N	0	0.06538	N	0.63	0.53088	T	-0.67	0.21429	N	0.127	0.15187	-1.0401	0.17283	T	0.024	0.10239	T	10	0.023053676	0.00592	T	0.007335	0.19442	T	0.030	0.07022	.	.	0.186928172975	0.18263	0.026669246991297507	0.02616	0.129451748039	0.14595	0.248364806175	0.03598	T	0.148242	0.48671	T	-0.540048	0.00335	T	-0.626505	0.10681	T	0.0135413931613622	0.00249	T	0.561944	0.19755	T	0.047970165	0.08288	0.057069294	0.10310	0.047970165	0.08287	0.057069294	0.10310	-3.616	0.18088	T	.	.	0.070	0.03661	B	.;.;.	.;.;.	0.808281	0.11794	8.364	0.43686989497159773	0.03306	0.86521	0.45818	D	AEFBI	0.180100	0.30740	N	-1.01144306903457	0.08365	0.3919834	-0.900029693392584	0.12093	0.6200821	1.34136445292598E-4	0.05486	0.475973	0.10046	0	0.573888	0.26702	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.75	0.531	0.16303	1.797000	0.38438	1.182000	0.24703	-0.123000	0.13640	1.000000	0.71638	0.999000	0.35428	0.738000	0.35369	0.0:0.1347:0.2527:0.6126	6.205	0.19813	859	0.33891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1829.83	146	chr6	152353298	.	T	C	1829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=321;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.677;SOR=0.593	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1840,0,1831	5	0	1	0
chr6	160122048	160122048	G	A	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.G113A:p.G38D,SLC22A1:NM_153187:exon1:c.G113A:p.G38D	.	406	1085	27	4	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	.	0.0015	0.00299521	0.0035	0.0005	0.0036	0	0	0.0051	0.0044	0.0019	0.0033376	516	154602	rs35888596	0.0027	0.0027	0.0025	0.0028	0.0449	0.0026	0.0026	0.0404	0.0387	0.0013	0.0043	0.0349	2.519e-05	5.645e-05	0.0449	0.0018	0.0058	0.0022	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0042	0.0039	0.0006	0.0011	0.0051	0.0375	0.0002	0	0.0646	0.0022	0.0090	0.0014	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.98	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.595	0.93690	H	-0.69	0.74477	T	-5.81	0.89796	D	0.961	0.97426	0.567	0.91463	D	0.679	0.88881	D	10	0.014657378	0.00308	T	.	.	.	0.892	0.96910	.	.	0.795648209137	0.79374	0.8796919050526835	0.87937	0.688094427306	0.60415	0.666530907154	0.62343	T	0.439231	0.78459	T	0.0811231	0.62173	D	0.342913	0.90036	D	0.0767291887891701	0.09564	T	0.849815	0.53298	T	0.88076633	0.89730	0.90945464	0.95650	0.88076633	0.89731	0.90945464	0.95650	-8.143	0.63725	D	.	.	0.828	0.81301	P	.;.;.;.	.;.;.;.	3.791481	0.54572	23.5	0.99864207348351708	0.94276	0.98984	0.89542	D	AEFDBI	0.960016	0.98063	D	0.972892910519621	0.94849	13.09174	0.888011549237918	0.95029	13.248	0.999999999882552	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	9.228000	0.94403	9.547000	0.80972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:1.0:0.0	19.396	0.94596	564	0.70960	.;.;.;.	.	.	.	.	.	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	0.033736	0.000000	0.058424	0.049708	0.000000	0.034483	0.015244	0.007576	0.08333	1797.83	112	chr6	160122048	.	G	A	1797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.012;DP=302;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.983;SOR=0.796	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1808,0,1213	5	0	1	0
chr6	165302227	165302227	G	A	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon2:c.C95T:p.T32M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000884694508073	.	.	9.915e-05	0	0.0002	0.0001	0	0.0001	0	0	7.76e-05	12	154602	rs759307180	4.31e-05	4.378e-05	3.54e-05	5.089e-05	0.0007	3.443e-05	3.129e-05	0.0002	0.0002	5.975e-05	0.0004	3.826e-05	7.557e-05	3.748e-05	0.0007	2.338e-05	8.281e-05	4.64e-05	3.941e-05	4.594e-05	3.856e-05	4.031e-05	0.0002	1.715e-05	1.129e-05	5.282e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.044	0.41096	D	0.016	0.60972	D	0.132	0.27209	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	2.64	0.12780	T	-0.12	0.08809	N	0.168	0.17828	-0.9345	0.43470	T	0.005	0.01833	T	9	0.048029304	0.04199	T	8.85E-4	0.00800	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.2541862911940872	0.25332	0.0668708633351	0.07459	.	.	.	3.25E-4	0.00087	T	-0.51854	0.00449	T	-0.672105	0.07474	T	0.0226529217007345	0.00983	T	0.581242	0.21054	T	0.019573247	0.00490	0.04355475	0.05446	0.019573247	0.00490	0.04355475	0.05445	-8.869	0.66849	D	.	.	0.104	0.18991	B	.	.	1.296732	0.16982	12.89	0.79960043561229943	0.12980	0.00069	0.00489	N	AEFBI	0.022772	0.01181	N	-1.06529538454357	0.07291	0.338243	-1.15394349939353	0.06697	0.3232466	1.36607074696467E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.454	0.454	0.15857	1.504000	0.35333	-0.388000	0.09495	0.000000	0.17513	0.178000	0.24038	0.002000	0.18203	0.048000	0.15020	0.3693:0.0:0.6307:0.0	2.870	0.05269	980	0.04108	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	1247.83	88	chr6	165302227	.	G	A	1247.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.72;DP=270;ExcessHet=0;FS=5.532;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.432;SOR=1.325	GT:AD:DP:GQ:PL	0/1:48,40:88:99:1258,0,1204	5	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A,PDE10A:NM_001385079:exon15:c.C2257G:p.P753A,PDE10A:NM_006661:exon16:c.C1429G:p.P477A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	427	1092	3	0	0	3	0.00137174	.	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic 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	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	774.83	65	chr6	165395227	.	G	C	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.223;SOR=0.725	GT:AD:DP:GQ:PL	0/1:31,34:65:99:785,0,827	5	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2681.43	64	chr6	170561964	.	G	*	2681.43	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,42:64:99:1|0:170561949_GCAA_G:3489,864,739:170561949	1	1	3	1
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	38.87	14	chr7	290724	.	A	G	38.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=119;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.1;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:49:0|1:290722_C_T:49,0,395:290722	5	0	1	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	.	.	.	.	.	.	.	.	0.3	131.58	14	chr7	290725	.	C	G	131.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.359;DP=125;ExcessHet=1.383;FS=83.886;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=-0.568;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:49:0|1:290722_C_T:49,0,395:290722	2	0	3	1
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008836	0.000000	0.008264	0.009036	0.000000	0.018182	0.009494	0.007752	0.08333	168.83	19	chr7	987514	.	G	A	168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.85;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.661;SOR=0.976	GT:AD:DP:GQ:PL	0/1:11,8:19:99:179,0,311	5	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.25	2089.03	62	chr7	1440649	.	C	T	2089.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.54;DP=272;ExcessHet=1.383;FS=0.585;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.332;SOR=0.635	GT:AD:DP:GQ:PL	0/1:30,32:62:99:837,0,678	3	0	3	0
chr7	2526878	2526878	G	A	exonic	LFNG	.	nonsynonymous SNV	LFNG:NM_001040167:exon7:c.G1030A:p.V344I,LFNG:NM_001040168:exon7:c.G1030A:p.V344I,LFNG:NM_001166355:exon8:c.G817A:p.V273I,LFNG:NM_002304:exon8:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	3984436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.0222771651493	7.7e-05	.	1.714e-05	0	0	0	0	1.571e-05	0	6.117e-05	1.29e-05	2	154602	rs143802425	1.78e-05	1.915e-05	1.771e-05	1.789e-05	0.0003	1.239e-05	1.052e-05	6.092e-05	2.521e-05	8.961e-05	0	0	0	0	0.0003	1.619e-05	3.313e-05	1.159e-05	9.226e-05	9.2e-05	6.439e-05	0.0001	0.0002	5.543e-05	4.377e-05	7.921e-05	5.607e-05	0.0002	0	6.557e-05	0	0	0	0	8.835e-05	0	0	0.669	0.04575	T	0.599	0.07972	T	0.507	0.40310	P	0.182	0.35926	B	0.000182	0.48115	N	0.210172	0.790615	0.29230	N	-0.445	0.02820	N	0.04	0.62051	T	-0.1	0.09135	N	0.172	0.19728	-0.9104	0.46805	T	0.088	0.34078	T	10	0.06268421	0.08051	T	0.022277	0.45152	T	0.091	0.26358	.	.	0.398283496042	0.39440	0.3122882686237473	0.31141	0.3878823604	0.40057	0.339162051678	0.16313	T	0.261696	0.63320	T	-0.366762	0.03761	T	-0.527936	0.19493	T	0.0186861573754763	0.00581	T	0.869313	0.57326	D	0.024934834	0.01376	0.03177623	0.01816	0.024934834	0.01376	0.03177623	0.01816	-3.812	0.21614	T	0.08943496067484633	0.05467	0.067	0.04041	B	.;.;.;.;.;.	.;.;.;.;.;.	1.472442	0.18966	14.02	0.69452547619725602	0.08977	0.61949	0.31635	D	AEFDGBI	0.076635	0.15421	N	-0.782805219641252	0.13758	0.6801174	-0.803334026381927	0.14416	0.7530534	0.999994822624725	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.46	0.53	0.16296	2.741000	0.47100	0.968000	0.23038	0.676000	0.76740	0.996000	0.39380	0.185000	0.23452	0.510000	0.29244	0.8219:0.0:0.1781:0.0	8.702	0.33493	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	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1659.83	103	chr7	2526878	.	G	A	1659.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.65;DP=281;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.9;SOR=0.739	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1670,0,941	5	0	1	0
chr7	5064954	5064954	G	A	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.G1498A:p.D500N,RBAK:NM_001204456:exon6:c.G1498A:p.D500N	.	413	1091	17	1	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00121223142827	0.0009	0.00139776	0.0015	0.0010	0.0008	0	0	0.0014	0.0011	0.0038	0.0012872	199	154602	rs149739845	0.0009	0.0009	0.0008	0.0011	0.0054	0.0009	0.0009	0.0040	0.0039	0.0005	0.0006	0.0017	0	1.872e-05	0.0054	0.0007	0.0012	0.0044	0.0008	0.0008	0.0007	0.0009	0.0044	0.0007	0.0006	0.0029	0.0025	0.0007	0	0.0009	0.0009	0	9.464e-05	0.0034	0.0008	0.0005	0.0044	0.502	0.07695	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.233062	0.15876	N	0.565121	.	.	.	-0.45	0.02807	N	2.49	0.14531	T	-0.09	0.08340	N	0.088	0.06587	-0.9827	0.34375	T	0.016	0.06616	T	8	0.006048858	0.00136	T	0.001212	0.01583	T	0.018	0.03083	.	.	0.0482279557977	0.04254	0.11366945105048618	0.11294	0.0712543647857	0.07981	0.293589174747	0.09449	T	0.01575	0.13153	T	-0.740965	0.00020	T	-0.837641	0.01135	T	0.000333575056128164	0.00003	T	0.166283	0.01543	T	0.01795362	0.00318	0.020732109	0.00152	0.01795362	0.00318	0.020732109	0.00152	-4.298	0.28149	T	.	.	0.082	0.08754	B	.;.	.;.	0.761272	0.11309	7.932	0.7951076946333282	0.12775	0.00009	0.00143	N	AEFDGBHCI	0.041901	0.06431	N	-1.04311244204094	0.07723	0.3597564	-1.08192594315864	0.08057	0.3944742	0.0136590108915788	0.12493	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	3.77	-1.42	0.08446	-0.698000	0.05194	-0.421000	0.09284	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.3632:0.3103:0.3266:0.0	4.422	0.10912	917	0.20147	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	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	0.008772	0.000000	0.008621	0.015244	0.003788	0.08333	1059.83	86	chr7	5064954	.	G	A	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=286;ExcessHet=0;FS=2.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.951;SOR=1.106	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1070,0,1234	5	0	1	0
chr7	5333004	5333004	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon19:c.G5765A:p.R1922H	.	436	1085	0	1	0	2	0.00092081	.	.	.	3336470	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0354672727271	0.0002	.	0.0003	0	0	0	0	0.0005	0	0.0002	7.12e-05	11	154602	rs368584372	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.051e-05	0.0001	0	0	0	0	0.0003	0.0003	7.271e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.746e-05	8.26e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.018	0.50676	D	0.015	0.61642	D	0.99	0.63424	D	0.765	0.56630	P	.	.	.	.	0.826547	0.34854	D	1.845	0.48678	L	2.26	0.17596	T	-2.87	0.60348	D	0.245	0.27673	-1.0286	0.20908	T	0.064	0.26491	T	9	0.1473675	0.27925	T	0.035467	0.56363	D	0.076	0.22200	.	.	0.043077524339	0.03247	0.17250649875772875	0.17170	1.38456906483	0.84856	0.781819581985	0.79202	T	0.075321	0.35149	T	-0.420961	0.01686	T	-0.49752	0.22605	T	0.268180680578214	0.23669	T	0.867913	0.56927	D	0.108111255	0.25563	0.13239737	0.31771	0.108111255	0.25563	0.13239737	0.31770	-5.071	0.37600	T	.	.	0.125	0.26451	B	.;.	.;.	2.881932	0.38144	20.7	0.98857199737165269	0.47407	0.87722	0.47358	D	AEFDGBI	0.226611	0.35053	N	0.212771994475382	0.51818	3.360162	0.174839319599821	0.48474	3.06269	0.965387337082696	0.28827	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.38	3.45	0.38602	0.951000	0.28733	4.262000	0.42810	-0.267000	0.06790	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	0.0:0.8225:0.1775:0.0	11.868	0.51783	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	0.002022	0.000000	0.001366	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	505.83	34	chr7	5333004	.	C	T	505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.762;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.138;SOR=0.816	GT:AD:DP:GQ:PL	0/1:14,20:34:99:516,0,297	5	0	1	0
chr7	5388749	5388749	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.G1075A:p.V359I	.	.	.	.	.	.	.	.	.	.	.	4082238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.510328789378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331565450	1.931e-05	5.541e-05	1.595e-05	2.294e-05	2.736e-05	1.241e-05	1.053e-05	1.419e-05	1.153e-05	0	0	0	0	0	0	2.173e-05	0	2.736e-05	1.346e-05	1.32e-05	2.626e-05	0	2.993e-05	2.24e-06	8.4e-07	4.97e-06	1.86e-06	0	0	0	0	0	0	0	2.993e-05	0	0	0.501	0.07746	T	0.396	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999664	0.20745	N	-0.345	0.03330	N	2.86	0.10482	T	0.19	0.04947	N	0.116	0.10483	-0.9197	0.45594	T	0.011	0.04134	T	9	0.09999272	0.18182	T	0.510329	0.95291	D	0.031	0.07369	0.24	0.17218	0.043077524339	0.03247	0.04501997667572351	0.04445	1.40764129348	0.85361	0.844457387924	0.88775	D	0.007804	0.07183	T	-0.347909	0.04860	T	-0.737523	0.03996	T	0.210636308211726	0.20986	T	0.578742	0.20864	T	0.04315968	0.06676	0.068091355	0.14173	0.04315968	0.06675	0.068091355	0.14172	-5.354	0.40474	T	.	.	0.072	0.04436	B	.;.	.;.	1.398817	0.18123	13.56	0.97070931287413076	0.32239	0.19925	0.20848	N	AEFDBCI	0.054347	0.09874	N	-0.641641511435935	0.17703	0.9132671	-0.475192855725965	0.22839	1.242543	0.103987205550107	0.16462	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.66	2.61	0.30255	0.724000	0.25624	0.995000	0.23219	0.503000	0.22915	1.000000	0.71638	0.643000	0.25925	0.091000	0.17840	0.0:0.3921:0.0:0.6078	4.710	0.12247	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	281.83	42	chr7	5388749	.	C	T	281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.301;DP=139;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=1.12;SOR=0.806	GT:AD:DP:GQ:PL	0/1:28,14:42:99:292,0,683	5	0	1	0
chr7	21901198	21901198	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon82:c.G13495A:p.E4499K	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	YES	229591	Primary_ciliary_dyskinesia_7|not_provided|not_specified|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0020	0.00299521	0.0040	0.0004	0.0008	0.0020	0.0248	0.0035	0.0078	0.0032	0.0037128	574	154602	rs143362381	0.0036	0.0036	0.0036	0.0036	0.0043	0.0036	0.0035	0.0031	0.0030	0.0008	0.0012	0.0004	0.0017	0.0232	0.0043	0.0032	0.0027	0.0025	0.0040	0.0040	0.0028	0.0052	0.0031	0.0037	0.0036	0.0026	0.0025	0.0007	0	0.0024	0	0.0019	0.0290	0.0034	0.0030	0.0019	0.0031	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.009282	0.30429	N	0.412335	1	0.81001	D	.	.	.	3.21	0.07125	T	3.09	0.00129	N	0.156	0.16168	-0.9003	0.47962	T	0.007	0.02282	T	9	0.002060622	0.00029	T	.	.	.	0.032	0.07718	.	.	0.0846915920261	0.08053	0.16280028807902414	0.16200	.	.	0.277374863625	0.07129	T	0.013292	0.11527	T	-0.627998	0.00098	T	-0.674997	0.07292	T	0.00187411544808209	0.00019	T	0.517048	0.16713	T	0.024502672	0.01289	0.07466748	0.16358	0.03026252	0.02660	0.09242625	0.21782	-1.473	0.01710	T	0.0746207692164072	0.03251	0.067	0.02578	B	.;.;.	.;.;.	0.561602	0.09303	6.083	0.65798481415480237	0.07875	0.04817	0.10541	N	AEFGBI	0.043922	0.07004	N	-1.41959815687533	0.02467	0.108966	-1.33772817820881	0.03952	0.1854431	0.355524989978658	0.19726	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	0.464	0.15918	1.042000	0.29914	1.401000	0.26197	-0.550000	0.04901	0.199000	0.24297	0.109000	0.22772	0.312000	0.24784	0.6047:0.2858:0.1095:0.0	8.917	0.34747	829	0.39537	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	1	0	1	0	0.002073	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2985.83	196	chr7	21901198	.	G	A	2985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.216;DP=413;ExcessHet=0;FS=1.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.891;SOR=0.591	GT:AD:DP:GQ:PL	0/1:83,113:196:99:2996,0,2079	5	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	16570.7	120	chr7	27095695	.	C	*	16570.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=732;ExcessHet=0.4139;FS=0.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.26;ReadPosRankSum=0.473;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,57:120:99:1|0:27095694_GCGA_G:5430,2265,2432:27095694	5	0	1	0
chr7	44052885	44052885	G	C	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001014436:exon4:c.G271C:p.D91H,DBNL:NM_001122956:exon4:c.G271C:p.D91H,DBNL:NM_001362723:exon4:c.G271C:p.D91H,DBNL:NM_014063:exon4:c.G271C:p.D91H	.	426	1070	25	1	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	.	0.0013	0.00499201	0.0035	0	0.0012	0.0004	0	0.0012	0.0058	0.0189	0.0030465	471	154602	rs139647339	0.0022	0.0022	0.0017	0.0028	0.0193	0.0022	0.0022	0.0185	0.0182	0.0002	0.0011	0.0002	0	1.882e-05	0.0085	0.0012	0.0022	0.0193	0.0015	0.0015	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0001	0	0.0018	0	0.0004	0	0	0.0011	0.0024	0.0215	0.213	0.20306	T	0.579	0.19362	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	1.33	0.35031	T	-4.01	0.76254	D	0.855	0.87481	-0.1876	0.77989	T	0.396	0.74858	T	10	0.0092229545	0.00208	T	.	.	.	0.377	0.69527	.	.	0.804634121527	0.80281	0.8291163487985999	0.82869	2.22236575028	0.95846	0.762620568275	0.76320	T	0.529261	0.83680	D	-0.118421	0.33381	T	0.0720562	0.75047	D	0.122179954687555	0.14641	T	0.956971	0.90895	D	0.4046013	0.61050	0.34679255	0.60343	0.4046013	0.61050	0.34679255	0.60342	-11.653	0.83908	D	.	.	0.858	0.80211	P	.;.;.;.	.;.;.;.	4.455114	0.69291	25.4	0.99383301760627984	0.61979	0.95755	0.66016	D	AEFDGBHCI	0.962461	0.98406	D	0.410057472336601	0.61974	4.406109	0.398860132209106	0.61493	4.35035	0.999999982135241	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.775000	0.84243	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:0.8542:0.1458	14.682	0.68635	698	0.58074	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	832.83	58	chr7	44052885	.	G	C	832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.157;DP=238;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=2.28;SOR=0.402	GT:AD:DP:GQ:PL	0/1:26,32:58:99:843,0,651	5	0	1	0
chr7	45920722	45920722	-	GA	exonic	IGFBP3	.	frameshift insertion	IGFBP3:NM_001013398:exon1:c.418_419insTC:p.P140Lfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	658.8	34	chr7	45920722	.	G	GGA	658.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.56;DP=107;ExcessHet=0;FS=3.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.656;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,19:34:99:0|1:45920722_G_GGA:669,0,538:45920722	5	0	1	0
chr7	45920724	45920724	-	GGGCGGCTCACCTGGA	exonic	IGFBP3	.	frameshift insertion	IGFBP3:NM_001013398:exon1:c.416_417insTCCAGGTGAGCCGCCC:p.N142Efs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	779.05	34	chr7	45920724	.	C	CGGGCGGCTCACCTGGA	779.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=108;ExcessHet=0.4139;FS=1.213;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.13;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,19:34:99:0|1:45920722_G_GGA:669,0,539:45920722	5	0	1	0
chr7	47659097	47659097	C	A	exonic	C7orf65	.	nonsynonymous SNV	C7orf65:NM_001123065:exon3:c.C325A:p.L109I	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275649940293	.	0.00139776	0.0007	0	0.0002	0	0	9.048e-05	0	0.0045	0.0005886	91	154602	rs577917764	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0	8.045e-05	0	0	0	0.0020	2.726e-05	0.0004	0.0044	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0047	0.0040	0	0	0.0001	0	0	0	0	5.88e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.08333	1803.83	133	chr7	47659097	.	C	A	1803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.189;DP=319;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.363;SOR=0.635	GT:AD:DP:GQ:PL	0/1:64,69:133:99:1814,0,1741	5	0	1	0
chr7	47813287	47813287	T	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon49:c.A7180G:p.R2394G	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	414	1080	28	0	0	28	0.0127971	.	.	.	711018	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00175661637455	0.0012	0.00199681	0.0023	0.0002	0.0010	0	0.0002	0.0020	0.0057	0.0075	0.0020246	313	154602	rs138441246	0.0016	0.0016	0.0013	0.0019	0.0179	0.0015	0.0015	0.0151	0.0140	0.0004	0.0010	0.0114	0	0.0001	0.0179	0.0010	0.0027	0.0068	0.0014	0.0014	0.0013	0.0015	0.0068	0.0013	0.0012	0.0050	0.0044	0.0002	0	0.0014	0.0107	0	0.0002	0.0034	0.0014	0.0080	0.0068	0.35	0.12305	T	0.243	0.24193	T	0.001	0.07471	B	0.001	0.04355	B	0.762761	0.06550	N	1.118960	1	0.08975	N	0.425	0.12573	N	2.18	0.18875	T	0.64	0.02368	N	0.08	0.05542	-0.9816	0.34632	T	0.026	0.10954	T	10	0.0033038855	0.00057	T	0.001757	0.02986	T	0.009	0.00846	.	.	0.36453787251	0.36064	0.43316799921163585	0.43233	0.120409947034	0.13557	0.19317252934	0.00286	T	0.014141	0.12098	T	-0.72205	0.00027	T	-0.806922	0.01735	T	0.00208919443613553	0.00022	T	0.354665	0.08016	T	0.06999847	0.15382	0.04193365	0.04881	0.06999847	0.15382	0.04193365	0.04880	-2.486	0.05687	T	0.1867311497326399	0.24318	0.085	0.09965	B	.	.	-1.021441	0.00741	0.023	0.74024587281582088	0.10542	0.00768	0.03170	N	AEFBI	0.061139	0.11667	N	-1.11025166153776	0.06460	0.2974381	-1.18236057520871	0.06204	0.2979059	0.993548330117776	0.33257	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.76	-1.87	0.07317	-1.721000	0.01969	-5.038000	0.01875	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1683:0.3889:0.0:0.4428	4.165	0.09768	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.000000	0.005435	0.011696	0.000000	0.000000	0.009146	0.011364	0.08333	1120.83	84	chr7	47813287	.	T	C	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=282;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.453;SOR=1.052	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1131,0,1053	5	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	219.81	89	chr7	47829596	.	G	C	219.81	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.184;DP=630;ExcessHet=0.4139;FS=206.453;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=1.45;SOR=8.238	GT:AD:DP:GQ:PL	0/1:51,19:89:82:82,0,934	2	0	2	2
chr7	80656562	80656562	C	T	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.C143T:p.T48I,CD36:NM_001289908:exon2:c.C143T:p.T48I,CD36:NM_001127443:exon3:c.C143T:p.T48I,CD36:NM_001289909:exon3:c.C143T:p.T48I,CD36:NM_000072:exon4:c.C143T:p.T48I,CD36:NM_001001547:exon4:c.C143T:p.T48I,CD36:NM_001001548:exon4:c.C143T:p.T48I,CD36:NM_001371074:exon4:c.C143T:p.T48I,CD36:NM_001371075:exon4:c.C143T:p.T48I,CD36:NM_001371077:exon4:c.C143T:p.T48I,CD36:NM_001371078:exon4:c.C143T:p.T48I	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1514	4	0	0	4	0.00131926	.	.	.	2331411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.693	0.0661310444281	.	.	2.482e-05	9.638e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs780265725	2.737e-05	2.805e-05	1.906e-05	3.576e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	0	6.711e-05	0	0	0	0.0002	8.096e-06	1.656e-05	0.0003	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.08	0.87267	M	-0.83	0.74159	T	-4.89	0.85176	D	0.714	0.92200	0.259	0.86900	D	0.621	0.86655	D	9	0.9519199	0.94532	D	0.066131	0.69785	D	0.693	0.88867	0.83	0.93978	0.848845432693	0.84739	0.9575294824765377	0.95737	3.71968781554E-4	0.00038	0.581376373768	0.50279	T	0.476365	0.80703	T	0.126923	0.67061	D	0.218839	0.84117	D	0.871911764144897	0.52180	D	0.955004	0.86839	D	0.93802714	0.95046	0.85535145	0.91864	0.93802714	0.95046	0.85535145	0.91865	-10.565	0.78066	D	0.7461278515183923	0.82821	0.955	0.89938	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.668205	0.74577	26.2	0.9991043621532808	0.98022	0.92013	0.54752	D	AEFHCI	0.920960	0.89371	D	0.798491085055395	0.86010	8.750805	0.752661748052033	0.86356	8.862812	0.999999999990867	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	5.294000	0.65483	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.600	0.91199	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	752.83	70	chr7	80656562	.	C	T	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=251;ExcessHet=0;FS=4.748;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.38;SOR=0.319	GT:AD:DP:GQ:PL	0/1:39,31:70:99:763,0,1061	5	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	70.83	92	chr7	80674068	.	T	C	70.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.231;DP=274;ExcessHet=0;FS=61.564;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.911;SOR=6.357	GT:AD:DP:GQ:PL	0/1:69,23:92:81:81,0,1483	5	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	149.06	141	chr7	93102964	.	C	G	149.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.633;DP=463;ExcessHet=0.4139;FS=234.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.333;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,30:141:99:0|1:93102964_C_G:106,0,4020:93102964	4	0	2	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	.	.	.	.	.	.	.	.	0.2	240.76	142	chr7	93102965	.	C	G	240.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-5.225;DP=612;ExcessHet=0.4139;FS=241.27;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.501;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,30:142:99:0|1:93102964_C_G:106,0,4020:93102964	3	0	2	1
chr7	99005219	99005219	T	C	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_003496:exon67:c.T10495C:p.Y3499H,TRRAP:NM_001244580:exon68:c.T10582C:p.Y3528H,TRRAP:NM_001375524:exon69:c.T10624C:p.Y3542H	.	.	.	.	.	.	.	.	.	.	.	1275349	not_provided|Developmental_delay_with_or_without_dysmorphic_facies_and_autism	MedGen:C3661900|MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.927	0.159940102319	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs199577454	2.394e-05	2.394e-05	2.586e-05	2.2e-05	0.0038	1.739e-05	1.539e-05	0.0026	0.0022	0	0	0	0	0	0.0038	9.892e-06	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.119592	1	0.81001	D	2.44	0.70756	M	-1.52	0.81478	D	-3.76	0.71276	D	0.955	0.96416	0.539	0.91093	D	0.697	0.89543	D	10	0.8979465	0.89152	D	0.15994	0.84004	D	0.927	0.98229	0.669	0.80703	0.868594633239	0.86731	0.9383716600042861	0.93818	2.5862836791	0.98110	0.939507782459	0.99437	D	0.842093	0.96326	D	0.351018	0.86574	D	0.36329	0.90824	D	0.984081029891968	0.75517	D	0.962704	0.86724	D	0.22276928	0.44883	0.27161953	0.53065	0.22276928	0.44883	0.27161953	0.53064	-9.887	0.73232	D	0.9850787811356978	0.99605	0.994	0.94895	P	.;.;.;.	.;.;.;.	4.123843	0.61658	24.4	0.99810149683419847	0.89442	0.98908	0.88470	D	AEFDBI	0.878933	0.80451	D	0.818318099814755	0.87235	9.14914	0.770892712403956	0.87709	9.316189	0.999999999661814	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.642000	0.82531	7.857000	0.71250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:0.0:1.0	15.880	0.78980	285	0.88719	Phosphatidylinositol 3-/4-kinase, catalytic domain;.;Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-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	0.002014	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	2076.83	171	chr7	99005219	.	T	C	2076.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.682;DP=356;ExcessHet=0;FS=1.89;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.365;SOR=0.867	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2087,0,2205	5	0	1	0
chr7	99572910	99572910	T	C	exonic	ZNF655	.	nonsynonymous SNV	ZNF655:NM_001009960:exon3:c.T802C:p.Y268H,ZNF655:NM_001363334:exon3:c.T802C:p.Y268H,ZNF655:NM_138494:exon3:c.T802C:p.Y268H,ZNF655:NM_001083956:exon4:c.T907C:p.Y303H,ZNF655:NM_001085368:exon4:c.T907C:p.Y303H,ZNF655:NM_001363332:exon4:c.T907C:p.Y303H,ZNF655:NM_001363333:exon4:c.T907C:p.Y303H	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	0.0065	0.00978435	0.0082	0.0014	0.0035	0.0001	0.0135	0.0089	0.0066	0.0155	0.00793	1226	154602	rs7783862	0.0081	0.0081	0.0078	0.0084	0.0129	0.0080	0.0079	0.0123	0.0121	0.0012	0.0043	0.0036	2.52e-05	0.0139	0.0052	0.0083	0.0073	0.0129	0.0068	0.0068	0.0065	0.0071	0.0131	0.0065	0.0063	0.0105	0.0095	0.0015	0.0197	0.0057	0.0037	0	0.0153	0	0.0091	0.0066	0.0131	0.054	0.91255	T	0.07	0.53426	T	0.889	0.48869	P	0.653	0.52567	P	0.000813	0.41658	D	0.000000	1	0.81001	D	1.61	0.41143	L	1.99	0.21666	T	-4.58	0.79143	D	0.319	0.41261	-1.1713	0.00515	T	0.041	0.17700	T	10	0.004024029	0.00078	T	.	.	.	0.120	0.33359	.	.	0.0666544352282	0.05500	0.13151110690390708	0.13076	0.225179848457	0.25062	0.540488779545	0.44515	T	0.19214	0.54721	T	-0.418467	0.01749	T	-0.362199	0.37798	T	0.0437381184261215	0.04373	T	0.953105	0.82243	D	0.19936997	0.41873	0.21171641	0.45611	0.19936997	0.41873	0.21171641	0.45610	-5.635	0.43111	T	.	.	0.372	0.57932	A	.;.;.;.	.;.;.;.	4.207304	0.63535	24.6	0.99837223746291293	0.91800	0.80485	0.40110	D	AEFGBCI	0.303924	0.41176	N	0.274394854923824	0.54854	3.650139	0.294488807778051	0.55217	3.684951	0.0342953730162883	0.14147	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.34	4.21	0.48984	3.843000	0.55575	7.676000	0.65050	0.665000	0.62972	0.392000	0.26104	1.000000	0.68203	0.996000	0.76049	0.0:0.0875:0.0:0.9125	8.925	0.34794	273	0.89298	.;.;.;.	.	.	.	.	rs7783862	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.050000	0.000000	0.003049	0.022727	0.08333	1118.83	91	chr7	99572910	.	T	C	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.958;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.06;SOR=0.679	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1129,0,1303	5	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	.	.	.	.	.	.	.	.	0.5	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,30:96:99:0|1:100175805_G_C:547,0,2468:100175805	0	0	5	1
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1519.29	59	chr7	100773851	.	A	*	1519.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=392;ExcessHet=0.7136;FS=2.532;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-1.128;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,59:59:99:1|1:100773849_CCAT_C:2655,178,0:100773849	2	2	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,121:564:99:0|1:100952942_T_G:4051,0,13996:100952942	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,88:432:99:.:.:15219,12095,14348:.	0	0	6	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33149.9	464	chr7	100953371	.	C	*	33149.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.544;DP=3329;ExcessHet=6.1542;FS=4.984;MLEAC=1;MLEAF=0.083;MQ=57.14;MQRankSum=-13.21;QD=12.08;ReadPosRankSum=0.606;SOR=1.056	GT:AD:DP:GQ:PL	0/1:0,270:464:99:17090,5825,5012	5	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	29139.0	498	chr7	100960582	.	T	*	29139.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.604;DP=3400;ExcessHet=11.5949;FS=1.104;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.9;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:286,209:498:99:.:.:8066,0,11358:.	4	0	2	0
chr7	100996634	100996634	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G6071A:p.S2024N	.	508	989	25	0	0	25	0.0124813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0140274259014	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs201009895	5.919e-05	0.0006	4.745e-05	7.066e-05	0.0006	4.615e-05	4.185e-05	0.0002	0.0001	0.0001	0.0004	0.0003	0.0002	0.0002	0.0006	1.515e-05	0	0.0002	0.0004	0.0023	0.0003	0.0005	0.0015	0.0003	0.0003	0.0010	0.0008	0.0005	0	0.0015	0	0.0006	0	0	0.0002	0.0005	0.0009	0.0	0.91255	D	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.68	0.12371	T	-0.86	0.23372	N	0.092	0.07125	-0.9669	0.37834	T	0.016	0.06569	T	7	0.093948334	0.16667	T	0.014027	0.33868	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.011766040700622862	0.01136	.	.	0.429456561804	0.29133	T	0.002718	0.02115	T	-0.345439	0.05020	T	-0.733975	0.04149	T	0.0890976508453012	0.11110	T	0.294071	0.05429	T	0.09936937	0.23451	0.10994819	0.26504	0.09936937	0.23451	0.10994819	0.26504	-9.028	0.74568	D	.	.	0.456	0.62523	A	.;.	.;.	0.209536	0.05930	2.373	0.59872127429762345	0.06327	0.00265	0.01446	N	AEFI	0.043864	0.06987	N	-0.914581382338609	0.10501	0.5020716	-1.0763760444893	0.08167	0.4003712	1.18008797771581E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.282	0.12241	-0.717000	0.05088	-0.805000	0.07358	-0.596000	0.04633	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4236:0.5764:0.0	4.461	0.11085	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	35.83	36	chr7	100996634	.	G	A	35.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.443;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.93;MQRankSum=-3.933;QD=1;ReadPosRankSum=-0.664;SOR=0.035	GT:AD:DP:GQ:PL	0/1:31,5:36:46:46,0,1054	5	0	1	0
chr7	101000107	101000107	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9544A:p.A3182T	.	336	1141	45	0	0	45	0.0193382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0257733312218	0.0009	.	0.0061	0.0022	0	0	0.0096	0.0061	0.0043	0.0072	3.84e-05	1	26028	rs371708947	0.0012	0.0091	0.0012	0.0012	0.0039	0.0011	0.0011	0.0026	0.0022	0.0001	0.0006	0.0003	2.798e-05	0.0027	0.0039	0.0012	0.0010	0.0010	0.0017	0.0093	0.0015	0.0018	0.0026	0.0015	0.0014	0.0023	0.0022	0.0004	0	0.0004	0.0003	0	0.0036	0.0072	0.0026	0.0010	0.0017	0.532	0.06980	T	0.459	0.12632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.65	0.12676	T	0.88	0.01813	N	0.052	0.08925	-0.9456	0.41715	T	0.012	0.04747	T	6	0.005135894	0.00111	T	0.025773	0.48722	D	0.003	0.00094	.	.	0.0297737177859	0.01360	0.06795878814125544	0.06733	.	.	0.466616332531	0.34217	T	0.003395	0.02798	T	-0.71827	0.00028	T	-0.834601	0.01184	T	0.013651278538142	0.00254	T	0.280872	0.04893	T	0.042773437	0.06547	0.081971824	0.18671	0.042773437	0.06546	0.081971824	0.18670	-5.278	0.39724	T	.	.	0.118	0.28892	B	.;.	.;.	-0.806695	0.01094	0.049	0.9243322916297374	0.21852	0.00027	0.00265	N	AEFBI	0.018528	0.00568	N	-1.18653740619796	0.05203	0.2366343	-1.35108449020083	0.03793	0.1776613	1.38392605320333E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	-0.964	0.09799	-0.316000	0.08112	-3.396000	0.02819	-0.376000	0.05418	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025499	0.015625	0.042056	0.044304	0.000000	0.031250	0.010000	0.009259	0.08333	10749.8	1316	chr7	101000107	.	G	A	10749.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.272;DP=9867;ExcessHet=0;FS=1.859;MLEAC=1;MLEAF=0.083;MQ=49.1;MQRankSum=-1.972;QD=8.19;ReadPosRankSum=-0.502;SOR=0.542	GT:AD:DP:GQ:PL	0/1:867,445:1316:99:10760,0,24610	5	0	1	0
chr7	103654164	103654164	T	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon13:c.A1483G:p.I495V,RELN:NM_173054:exon13:c.A1483G:p.I495V	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	207451	Epilepsy,_familial_temporal_lobe,_1|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_specified|not_provided	MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00608343923033	0.0002	.	0.0001	9.625e-05	0	0	0	0.0002	0.0011	6.061e-05	8.41e-05	13	154602	rs150850005	7.194e-05	7.319e-05	5.182e-05	9.226e-05	0.0044	6.057e-05	5.604e-05	0.0030	0.0026	0.0002	0.0007	0	0	0	0.0044	2.702e-05	0.0002	2.319e-05	0.0003	0.0003	0.0002	0.0005	0.0028	0.0003	0.0002	0.0021	0.0019	0	0	0.0028	0	0	0	0.0068	8.829e-05	0	0	0.304	0.14497	T	0.653	0.06666	T	0.004	0.12183	B	0.007	0.12992	B	0.137452	0.18412	N	0.568373	1	0.08975	N	0.205	0.09354	N	1.95	0.22474	T	-0.11	0.08653	N	0.171	0.18649	-0.9836	0.34164	T	0.024	0.10284	T	10	0.051508456	0.05044	T	0.006083	0.15905	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.2419924119947583	0.24113	0.141360574457	0.15935	0.354771971703	0.18622	T	0.061614	0.31699	T	-0.531486	0.00376	T	-0.614207	0.11645	T	0.0109685441340354	0.00158	T	0.746525	0.36724	T	0.028660143	0.02237	0.0266236	0.00762	0.029019294	0.02329	0.028409708	0.01075	-2.839	0.08548	T	0.15988244192993212	0.19470	0.081	0.08368	B	.;.;.	.;.;.	0.731762	0.11013	7.668	0.60527729194744773	0.06485	0.52558	0.29160	D	AEFBI	0.251969	0.37174	N	-0.750554782871795	0.14618	0.7296873	-0.651231832265375	0.18185	0.9703737	0.00456817660619692	0.10618	0.648238	0.45900	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	0.581	0.16590	1.128000	0.30982	1.598000	0.27567	0.609000	0.47794	0.790000	0.29595	0.032000	0.21310	0.856000	0.40543	0.1116:0.063:0.3741:0.4513	4.728	0.12331	859	0.33891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.008621	0.000000	0.003788	0.08333	868.83	58	chr7	103654164	.	T	C	868.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.283;DP=218;ExcessHet=0;FS=10.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.135;SOR=0.129	GT:AD:DP:GQ:PL	0/1:23,35:58:99:879,0,644	5	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5911.96	133	chr7	105613788	.	C	T	5911.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.57;DP=523;ExcessHet=3.1439;FS=1.103;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.749;SOR=0.803	GT:AD:DP:GQ:PL	0/1:55,78:133:99:2096,0,1399	2	0	4	0
chr7	116257352	116257352	A	G	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon7:c.A1136G:p.N379S,TES:NM_152829:exon7:c.A1109G:p.N370S	.	438	1077	7	0	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	.	.	0.0113818	0.0063	9.61e-05	0.0005	0.0001	0	0.0001	0.0066	0.0453	0.0055368	856	154602	rs201714316	0.0028	0.0028	0.0015	0.0041	0.0447	0.0027	0.0027	0.0435	0.0430	2.988e-05	0.0002	0.0001	0	3.744e-05	0.0024	4.946e-05	0.0030	0.0447	0.0018	0.0018	0.0010	0.0026	0.0537	0.0016	0.0015	0.0483	0.0463	4.814e-05	0	0.0001	0	0.0002	0	0	4.41e-05	0.0009	0.0537	0.226	0.20835	T	0.642	0.06925	T	0.0	0.02946	B	0.001	0.04355	B	0.001021	0.40562	N	0.215683	0.969439	0.38728	D	1.79	0.46772	L	-2.24	0.88455	D	-0.9	0.24898	N	0.068	0.06587	-0.3129	0.74623	T	0.510	0.81575	D	10	0.0031743944	0.00053	T	.	.	.	0.240	0.54500	0.534	0.64293	0.811351156269	0.80957	0.07053226397762064	0.06990	0.0565668980249	0.06250	0.30550968647	0.11228	T	0.41868	0.77094	T	-0.420572	0.01696	T	-0.344043	0.39887	T	0.0156795409731871	0.00361	T	0.892211	0.62852	D	0.28515255	0.51538	0.16315885	0.37863	0.28515255	0.51538	0.16315885	0.37862	-5.265	0.39596	T	.	.	0.066	0.03231	B	.;.	.;.	0.837818	0.12093	8.647	0.9847307607069633	0.41884	0.62289	0.31736	D	AEFGBCI	0.184303	0.31163	N	-0.442430239336738	0.23998	1.292681	-0.334090473610269	0.27006	1.495551	0.999999070550522	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.64	4.49	0.54177	0.987000	0.29203	-0.566000	0.08452	0.756000	0.94297	0.180000	0.24064	0.000000	0.08366	0.979000	0.57723	0.8574:0.0:0.1426:0.0	8.963	0.35021	722	0.55239	Zinc finger, LIM-type|Zinc finger, LIM-type|Testin, LIM domain 3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.034091	0.08333	248.83	40	chr7	116257352	.	A	G	248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.229;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=-0.867;SOR=0.91	GT:AD:DP:GQ:PL	0/1:27,13:40:99:259,0,733	5	0	1	0
chr7	117534295	117534295	G	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon5:c.G509T:p.R170L	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.737774627815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.001	0.83351	D	0.949	0.53761	P	0.871	0.61869	P	0.000008	0.62929	D	0.108901	0.999998	0.58761	D	1.13	0.28900	L	-2.61	0.89953	D	-2.83	0.59710	D	0.839	0.83473	0.439	0.89667	D	0.706	0.89904	D	10	0.91400194	0.90762	D	0.737775	0.97896	D	0.820	0.94238	0.738	0.87063	0.976046592347	0.97578	0.9331083844034441	0.93289	0.00590512933603	0.00517	0.763000249863	0.76377	T	0.774835	0.94002	D	0.398244	0.89809	D	0.334274	0.89681	D	0.989456593990326	0.79690	D	0.968203	0.89778	D	0.5786244	0.71533	0.5238114	0.72488	0.5786244	0.71534	0.5238114	0.72489	-3.698	0.22377	T	0.7696870712673856	0.85078	0.352	0.65710	A	.;.;.;.	.;.;.;.	5.219894	0.87605	29.3	0.99822208203658125	0.90502	0.98279	0.81205	D	AEFI	0.971439	0.99350	D	0.668310729440703	0.77556	6.697864	0.705611240096563	0.82806	7.858939	0.999340489285442	0.39222	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.138000	0.76898	11.840000	0.97786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.996	0.71087	811	0.42639	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	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	650.83	52	chr7	117534295	.	G	T	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=236;ExcessHet=0;FS=2.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.109;SOR=1.134	GT:AD:DP:GQ:PL	0/1:27,25:52:99:661,0,628	5	0	1	0
chr7	123616399	123616399	A	G	exonic	ASB15	.	nonsynonymous SNV	ASB15:NM_080928:exon4:c.A196G:p.K66E,ASB15:NM_001290258:exon6:c.A196G:p.K66E	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0084754779281	0.0011	0.000798722	0.0016	0.0004	0.0019	0	0	0.0017	0.0033	0.0027	0.0015006	232	154602	rs146389595	0.0012	0.0012	0.0011	0.0013	0.0139	0.0011	0.0011	0.0114	0.0105	0.0008	0.0015	0.0121	0	1.873e-05	0.0139	0.0007	0.0026	0.0030	0.0009	0.0009	0.0009	0.0009	0.0033	0.0008	0.0007	0.0021	0.0017	0.0002	0	0.0008	0.0118	0	0	0.0272	0.0007	0.0019	0.0033	0.892	0.30656	T	0.96	0.92824	T	0.332	0.33274	B	0.186	0.36104	B	0.000001	0.84330	D	0.000000	0.991962	0.41520	D	1.955	0.52871	M	2.45	0.52416	T	-0.72	0.30555	N	0.422	0.46928	-0.9451	0.41797	T	0.137	0.45260	T	10	0.008272409	0.00188	T	0.008475	0.22407	T	0.159	0.41286	.	.	0.623888465017	0.62083	0.33115366317917055	0.33028	0.195611412408	0.21904	0.442374646664	0.30901	T	0.00741	0.06818	T	-0.287075	0.09932	T	-0.188818	0.55701	T	0.0427459386873625	0.04190	T	0.79572	0.43862	T	0.21618117	0.44070	0.29316846	0.55345	0.21618117	0.44069	0.29316846	0.55344	-4.073	0.24891	T	.	.	0.18	0.54368	B	.;.;.;.;.;.	.;.;.;.;.;.	2.810219	0.36988	20.4	0.9963365777917903	0.76203	0.98045	0.79135	D	AEDIJ	0.838380	0.75590	D	0.240152028362037	0.53154	3.485585	0.385193605664805	0.60650	4.255098	0.99973891051268	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.182000	0.58107	7.922000	0.74576	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.682	0.77130	690	0.58899	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011604	0.000000	0.016304	0.011696	0.000000	0.043103	0.006173	0.003788	0.08333	1166.83	101	chr7	123616399	.	A	G	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.057;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.693;SOR=0.738	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1177,0,1337	5	0	1	0
chr7	137912952	137912952	T	C	exonic	CREB3L2	.	nonsynonymous SNV	CREB3L2:NM_001253775:exon4:c.A622G:p.M208V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0016605692022	.	.	1.245e-05	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs750176619	2.057e-06	2.052e-06	4.091e-06	0	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	3.765e-05	0	0	0	0	1.315e-05	1.313e-05	0	2.691e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0.0003	0	0	0	0	0	0	0.445	0.26740	T	0.509	0.11041	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.97	0.47130	T	-0.47	0.18248	N	0.043	0.02179	-1.0334	0.19363	T	0.051	0.21728	T	8	0.056810826	0.06426	T	0.001661	0.02728	T	0.051	0.14325	0.24	0.17218	0.642148461468	0.63919	.	.	.	.	.	.	.	0.010829	0.10811	T	-0.365731	0.03816	T	-0.579733	0.14568	T	0.0112513747705157	0.00166	T	0.314968	0.06216	T	.	.	.	.	.	.	.	.	-2.367	0.04935	T	.	.	0.075	0.48345	B	.;.;.	.;.;.	0.312902	0.06877	3.414	0.35679815703512013	0.02253	0.00053	0.00405	N	AEFDBI	0.014011	0.00207	N	-1.33087061246605	0.03328	0.1484454	-1.45107637316682	0.02760	0.1275521	0.999656303032325	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.02	-5.14	0.02656	-0.129000	0.10493	-4.946000	0.01915	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2667:0.3381:0.2646:0.1306	1.302	0.01955	965	0.07246	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	776.83	81	chr7	137912952	.	T	C	776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.689;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.438;SOR=0.789	GT:AD:DP:GQ:PL	0/1:48,33:81:99:787,0,1217	5	0	1	0
chr7	138861272	138861272	G	A	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.C5114T:p.A1705V,KIAA1549:NM_020910:exon16:c.C5114T:p.A1705V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0051080760048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.434e-06	6.156e-06	5.467e-06	1.38e-06	0.0001	1.01e-06	7.3e-07	4.104e-05	2.388e-05	0.0001	0	0	0	0	0	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.33753	T	0.299	0.20486	T	0.01	0.19075	B	0.011	0.15521	B	0.113532	0.19312	N	0.591969	1	0.08975	N	0.51	0.13489	N	1.91	0.23283	T	-1.81	0.42575	N	0.088	0.08366	-1.0212	0.23324	T	0.028	0.12190	T	10	0.04445368	0.03403	T	0.005108	0.12970	T	0.049	0.13647	0.158	0.06178	0.0675242888579	0.06100	0.20268540405027607	0.20185	0.0984155680203	0.11118	0.351076841354	0.18080	T	0.012055	0.10661	T	-0.342156	0.05239	T	-0.72926	0.04361	T	0.142174008973941	0.16460	T	0.644036	0.25562	T	0.05355305	0.10151	0.094313145	0.22320	0.05355305	0.10151	0.094313145	0.22319	-3.666	0.18818	T	.	.	0.076	0.05890	B	.;.	.;.	1.579327	0.20209	14.64	0.97105924392064924	0.32387	0.05795	0.11731	N	AEFDBI	0.066123	0.12933	N	-0.920297283057455	0.10368	0.4951127	-0.891925043989736	0.12284	0.631032	0.552234148260203	0.21344	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.6	1.81	0.24139	2.279000	0.43094	4.958000	0.46324	0.671000	0.69459	0.084000	0.22438	0.966000	0.29516	0.456000	0.28029	0.3402:0.0:0.6598:0.0	7.860	0.28666	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1133.83	90	chr7	138861272	.	G	A	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.17;DP=270;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.085;SOR=0.515	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1144,0,1513	5	0	1	0
chr7	139614492	139614492	G	A	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_022740:exon8:c.C1784T:p.A595V	.	.	.	.	.	.	.	.	0.4412	0.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0474481057809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.328e-07	7.561e-06	0	1.712e-06	1.039e-06	0	0	.	.	0	0	0	0	0	0	1.039e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.489	0.15059	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.998956	0.81001	D	.	.	.	0.67	0.52187	T	-0.58	0.17417	N	0.529	0.61511	-1.0705	0.09304	T	0.093	0.35390	T	8	0.30987635	0.48470	T	0.047448	0.62924	D	0.062	0.17934	0.066	0.00312	0.553613530234	0.55019	0.32720391015854233	0.32633	0.44134038575	0.44124	0.517784118652	0.41314	T	0.161266	0.50545	T	-0.149983	0.28314	T	-0.453216	0.27341	T	0.583903759283412	0.35769	D	0.634537	0.27701	T	0.048329554	0.08406	0.09353187	0.22095	0.048329554	0.08406	0.09353187	0.22094	-1.692	0.02208	T	.	.	0.104	0.18705	B	.;.	.;.	3.923317	0.57294	23.8	0.99256542791234592	0.57055	0.93816	0.59273	D	AEFBCI	0.657221	0.62893	D	0.417016637654045	0.62357	4.450356	0.441178988619543	0.64151	4.663966	0.999999573393191	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.78367	0.99111	0	0.635551	0.53088	0	.	.	5.39	4.5	0.54382	5.853000	0.69232	8.686000	0.78060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0736:0.0:0.9264:0.0	13.876	0.63153	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	49.9	62	chr7	139614492	.	G	A	49.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.509;DP=261;ExcessHet=0;FS=36.394;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=-0.09;SOR=5.544	GT:AD:DP:GQ:PL	0/1:42,20:62:57:57,0,723	2	0	1	3
chr7	143756430	143756430	A	G	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.T1229C:p.I410T	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.00539137	0.0015	0.0169	0.0007	0	0	4.535e-05	0.0011	6.098e-05	0.001326	205	154602	rs201706723	0.0004	0.0005	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0006	0	0	0	0.0004	4.063e-05	0.0007	8.174e-05	0.0033	0.0045	0.0033	0.0034	0.0117	0.0031	0.0030	0.0108	0.0104	0.0117	0	0.0011	0	0	0	0	7.377e-05	0.0014	0	.	.	.	0.038	0.51421	D	0.222	0.30359	B	0.098	0.30479	B	.	.	.	.	.	.	.	1.355	0.33814	L	3.46	0.05249	T	.	.	.	0.195	0.21449	.	.	.	.	.	.	.	0.0044006705	0.00090	T	.	.	.	.	.	.	.	0.193865811164	0.18958	0.06212445528328905	0.06152	.	.	0.60335367918	0.53377	T	0.018	0.14269	T	-0.532786	0.00370	T	-0.527056	0.19582	T	.	.	.	.	.	.	0.06796443	0.14765	0.1610289	0.37477	0.06796443	0.14765	0.1610289	0.37477	-3.357	0.14484	T	.	.	0.085	0.10304	B	.	.	1.290614	0.16917	12.84	0.17848029377090024	0.00537	0.08613	0.14518	N	AEFI	0.040037	0.05899	N	.	.	.	.	.	.	1.66587043468156E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	.	.	0.109	0.109	0.13884	2.198000	0.42339	5.824000	0.50107	0.247000	0.18307	0.987000	0.36337	0.636000	0.25890	0.008000	0.08271	.	.	.	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001636	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2229.83	295	chr7	143756430	.	A	G	2229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.107;DP=472;ExcessHet=0;FS=6.664;MLEAC=1;MLEAF=0.083;MQ=53.56;MQRankSum=-0.399;QD=7.56;ReadPosRankSum=0.878;SOR=1.052	GT:AD:DP:GQ:PL	0/1:194,101:295:99:2240,0,5076	5	0	1	0
chr7	144050404	144050404	G	A	exonic	OR2A5	.	startloss	OR2A5:NM_012365:exon2:c.G3A:p.M1?	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0044	0.00339457	0.0014	0.0141	0.0005	0	0	0.0001	0	0	0.0012225	189	154602	rs77440366	0.0004	0.0004	0.0004	0.0004	0.0150	0.0004	0.0004	0.0139	0.0134	0.0150	0.0004	0.0017	0	0	0.0013	1.763e-05	0.0010	6.983e-05	0.0041	0.0041	0.0043	0.0040	0.0144	0.0039	0.0038	0.0135	0.0131	0.0144	0	0.0011	0.0020	0	0	0	2.941e-05	0.0019	0.0002	0.022	0.48642	D	0.051	0.47828	T	0.2	0.29645	B	0.216	0.37572	B	.	.	.	.	1	0.81001	D	.	.	.	7.93	0.00326	T	-2.12	0.48184	N	0.747	0.74644	-0.0892	0.80345	T	0.001	0.00188	T	8	0.004324734	0.00087	T	.	.	.	0.192	0.47115	0.989	0.99885	0.702360448851	0.69978	0.06836997745929536	0.06774	.	.	.	.	.	0.007002	0.06422	T	-0.546653	0.00305	T	-0.545681	0.17742	T	0.0168786166447931	0.00440	T	.	.	.	0.43373072	0.62996	0.40608075	0.64991	0.43373072	0.62996	0.40608075	0.64991	-7.061	0.54478	T	.	.	.	.	.	.;.	.;.	2.190768	0.27933	17.63	0.99492565157554458	0.67516	0.89974	0.50798	D	AEFGBI	0.019601	0.00696	N	0.136706085074748	0.48182	3.033857	0.240104612807102	0.52088	3.386131	0.999190451652627	0.38711	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.06	5.06	0.67838	1.393000	0.34106	4.893000	0.45784	0.661000	0.55757	0.106000	0.22914	1.000000	0.68203	0.360000	0.25886	0.0:0.0:1.0:0.0	13.781	0.62573	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1285.83	120	chr7	144050404	.	G	A	1285.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.525;DP=440;ExcessHet=0;FS=3.399;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.542;SOR=0.415	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1296,0,1919	5	0	1	0
chr7	150047637	150047637	T	A	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon1:c.A25T:p.R9W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396756648	1.463e-05	1.642e-05	1.266e-05	1.688e-05	1.381e-05	8.16e-06	6.29e-06	7.41e-06	5.42e-06	0	0	0	0	0	0	1.381e-05	6.544e-05	0	6.715e-06	6.59e-06	1.311e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.08333	443.84	35	chr7	150047637	.	T	A	443.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.608;DP=101;ExcessHet=0;FS=3.074;MLEAC=1;MLEAF=0.083;MQ=54.58;MQRankSum=-1.175;QD=12.68;ReadPosRankSum=-0.298;SOR=1.27	GT:AD:DP:GQ:PL	0/1:19,16:35:99:454,0,485	5	0	1	0
chr7	151167166	151167174	GCGGCGGCA	-	exonic	GBX1	.	nonframeshift deletion	GBX1:NM_001098834:exon1:c.375_383del:p.A128_A130del	.	234	1280	7	0	1	8	0.00272692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0013	0	0	0.0007	0	0.0001	0.0003558	55	154602	rs756243397	0.0004	0.0004	0.0004	0.0004	0.0032	0.0004	0.0004	0.0021	0.0017	0.0002	0.0009	0.0005	2.611e-05	9.871e-05	0.0032	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0004	0.0012	0	0	0.0034	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1388.79	63	chr7	151167165	.	GGCGGCGGCA	G	1388.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.659;DP=186;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.04;ReadPosRankSum=-0.072;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,38:63:99:0|1:151167153_G_C:1399,0,915:151167153	5	0	1	0
chr7	151167174	151167174	A	0	exonic	GBX1	.	.	.	.	246	1263	3	1	9	14	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	178.05	63	chr7	151167174	.	A	*	178.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.084;DP=171;ExcessHet=0.4139;FS=1.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=-1.452;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,38:63:99:0|1:151167153_G_C:1399,0,915:151167153	5	0	1	0
chr7	152108209	152108209	A	G	exonic	GALNT11	.	nonsynonymous SNV	GALNT11:NM_001304514:exon5:c.A641G:p.N214S,GALNT11:NM_001371475:exon5:c.A758G:p.N253S,GALNT11:NM_001371464:exon6:c.A884G:p.N295S,GALNT11:NM_001371465:exon6:c.A881G:p.N294S,GALNT11:NM_001371470:exon6:c.A587G:p.N196S,GALNT11:NM_022087:exon6:c.A884G:p.N295S,GALNT11:NM_001371458:exon7:c.A884G:p.N295S,GALNT11:NM_001371459:exon7:c.A884G:p.N295S,GALNT11:NM_001371461:exon7:c.A884G:p.N295S,GALNT11:NM_001371462:exon7:c.A884G:p.N295S,GALNT11:NM_001371463:exon7:c.A884G:p.N295S,GALNT11:NM_001371466:exon7:c.A881G:p.N294S,GALNT11:NM_001371467:exon7:c.A881G:p.N294S,GALNT11:NM_001371468:exon7:c.A587G:p.N196S,GALNT11:NM_001371469:exon7:c.A587G:p.N196S,GALNT11:NM_001371460:exon8:c.A884G:p.N295S	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0207787275948	0.0002	0.000599042	0.0003	0	0	0	0	7.494e-05	0.0011	0.0019	0.0002781	43	154602	rs201235145	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0012	0.0012	2.987e-05	2.236e-05	0	0	3.744e-05	0.0016	7.014e-05	0.0002	0.0014	9.851e-05	9.842e-05	7.71e-05	0.0001	0.0012	6.003e-05	4.877e-05	0.0005	0.0004	0	0	6.538e-05	0.0003	0	9.414e-05	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.008	0.67890	D	0.988	0.62325	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.015	0.25427	L	0.36	0.57880	T	-4.11	0.74980	D	0.728	0.75374	-0.6979	0.60539	T	0.230	0.59583	T	10	0.13049099	0.24834	T	0.020779	0.43441	T	0.327	0.64926	.	.	0.762419401012	0.76025	0.6952733926290208	0.69468	0.763629131486	0.64388	0.523650050163	0.42141	T	0.164301	0.50971	T	-0.372393	0.03474	T	-0.326708	0.41834	T	0.260209709405899	0.23324	T	0.960504	0.85148	D	0.7366979	0.80103	0.6759662	0.80972	0.7366979	0.80105	0.6759662	0.80973	-9.558	0.71219	D	.	.	0.121	0.25166	B	.;.	.;.	4.593962	0.72687	25.9	0.99844441815424079	0.92489	0.95121	0.63515	D	AEFDBCI	0.930374	0.91756	D	0.584193282693165	0.72189	5.766487	0.59221851373082	0.74378	6.127338	0.996153041763489	0.34559	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.741806	0.99463	0	.	.	5.28	4.07	0.46726	7.460000	0.79850	9.294000	0.79816	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.8595:0.1405:0.0:0.0	12.357	0.54509	663	0.61610	Glycosyltransferase 2-like;Glycosyltransferase 2-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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1413.83	90	chr7	152108209	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=282;ExcessHet=0;FS=2.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.194;SOR=0.412	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1424,0,1242	5	0	1	0
chr7	152205112	152205112	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon25:c.G3955C:p.D1319H	.	448	1056	18	0	0	18	0.0084507	.	.	.	138486	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.501	.	0.0050	0.00239617	0.0085	0.0020	0.0026	0	0.0065	0.0106	0.0069	0.0128	0.0057244	885	154602	rs138119145	0.0067	0.0068	0.0066	0.0069	0.0118	0.0066	0.0066	0.0100	0.0098	0.0009	0.0029	0.0016	2.53e-05	0.0068	0.0118	0.0072	0.0053	0.0106	0.0053	0.0053	0.0053	0.0054	0.0079	0.0050	0.0049	0.0073	0.0071	0.0015	0	0.0058	0.0023	0	0.0069	0.0102	0.0079	0.0038	0.0067	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.879	0.62418	P	0.009870	0.30165	N	0.147317	0.999994	0.58761	D	2.485	0.72352	M	-1.88	0.84557	D	-4.04	0.74427	D	0.453	0.49055	0.439	0.89668	D	0.668	0.88490	D	10	0.009700209	0.00218	T	.	.	.	0.501	0.78413	.	.	0.819569700567	0.81786	0.5195825074040655	0.51881	2.46540379897	0.97448	0.448005527258	0.31672	T	0.387487	0.74839	T	-0.265729	0.12238	T	-0.145083	0.59677	T	0.0124907214302725	0.00206	T	0.910209	0.68156	D	0.3838508	0.59593	0.48335987	0.70089	0.43801832	0.63275	0.49340585	0.70699	-6.57	0.50823	T	0.6025763354653823	0.66969	0.328	0.55082	B	.;.	.;.	4.147716	0.62187	24.4	0.9871961608920109	0.45186	0.99594	0.97801	D	AEFBI	0.666513	0.63495	D	0.794095892349163	0.85734	8.665662	0.79423801030766	0.89390	9.955145	0.999999892431563	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.729000	0.74581	7.558000	0.60417	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.860	0.96779	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.08333	1191.83	85	chr7	152205112	.	C	G	1191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.592;DP=266;ExcessHet=0;FS=7.33;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.479;SOR=1.402	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1202,0,926	5	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,48:165:99:.:.:765,0,3997:.	0	0	6	0
chr7	155739840	155739851	CCCACCCCAGCA	-	exonic	RBM33	.	nonframeshift deletion	RBM33:NM_053043:exon12:c.1863_1874del:p.P630_H633del	.	657	861	3	1	0	5	0.00289519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	.	0.0017	0	0.0054	0	0	0.0040	0	0.0005	3.84e-05	1	26028	rs756497414	0.0019	0.0018	0.0020	0.0019	0.0024	0.0019	0.0018	0.0021	0.0020	0.0002	0.0005	0.0060	5.692e-05	0.0002	0.0024	0.0021	0.0027	0.0005	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0021	0.0020	0.0007	0	0.0017	0.0074	0.0002	0.0003	0	0.0025	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1736.79	95	chr7	155739839	.	CCCCACCCCAGCA	C	1736.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.12;DP=304;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.28;ReadPosRankSum=2.23;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,47:95:99:0|1:155739825_G_A:1747,0,1726:155739825	5	0	1	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S	.	943	554	20	5	0	30	0.026362	.	.	.	3210342	DLGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	691.83	48	chr8	737814	.	G	T	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.319;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.82;SOR=0.773	GT:AD:DP:GQ:PL	0/1:17,31:48:99:702,0,362	5	0	1	0
chr8	2106323	2106323	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon22:c.C2816T:p.S939F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	0.0479158109894	.	.	3.301e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs761427827	7.525e-06	7.524e-06	6.806e-06	8.251e-06	0.0002	4.04e-06	2.95e-06	0.0001	0.0001	0	0.0002	0	0	0	0	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.02	0.40749	T	-5.54	0.86149	D	0.896	0.89577	-0.3652	0.73108	T	0.311	0.68094	T	10	0.86037505	0.85254	D	0.047916	0.63138	D	0.613	0.84879	0.616	0.75000	0.613388676277	0.61026	0.6411916621454066	0.64054	0.0453492157167	0.04917	0.537991821766	0.44161	T	.	.	.	0.0683166	0.60643	T	0.162077	0.80934	D	0.982339918613434	0.74430	D	0.919408	0.70943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.78571	P	.;.	.;.	3.775304	0.54247	23.5	0.99788829445663652	0.87484	0.99042	0.90377	D	AEFBI	0.924286	0.90208	D	0.613426520762417	0.74021	6.062746	0.484440853088905	0.66957	5.020366	0.99999999996001	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	7.631000	0.82408	5.832000	0.50172	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:1.0:0.0:0.0	18.998	0.92799	946	0.12043	.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1013.83	92	chr8	2106323	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.152;DP=303;ExcessHet=0;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.485;SOR=0.917	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1024,0,1441	5	0	1	0
chr8	2974553	2974553	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8638A:p.V2880I	.	424	1081	16	1	0	18	0.00825688	.	.	.	723047	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0004	0.00299521	0.0021	0.0002	0.0010	0	0	0.0007	0.0036	0.0118	0.0017658	273	154602	rs199997360	0.0012	0.0012	0.0009	0.0015	0.0104	0.0011	0.0011	0.0098	0.0096	0.0001	0.0007	3.829e-05	5.045e-05	0	0.0042	0.0006	0.0012	0.0104	0.0008	0.0008	0.0006	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0001	0	0.0004	0	0	0	0.0068	0.0008	0.0014	0.0108	0.271	0.24468	T	0.058	0.46182	T	0.0	0.02946	B	0.002	0.06944	B	0.616804	0.05733	N	1.232560	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.84	0.23590	N	0.125	0.13055	-0.9811	0.34748	T	0.162	0.49748	T	10	0.024886549	0.00701	T	.	.	.	0.109	0.30843	.	.	0.0884992946249	0.08302	0.1613124792866428	0.16052	.	.	0.200619101524	0.00475	T	0.022544	0.17365	T	-0.547403	0.00302	T	-0.551121	0.17219	T	0.00539363786171525	0.00058	T	0.609039	0.23205	T	0.034196056	0.03792	0.036459863	0.03098	0.033009052	0.03435	0.04383823	0.05543	-3.967	0.23308	T	.	.	0.068	0.02927	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.727708	0.01257	0.065	0.88680894306336966	0.18169	0.05817	0.11756	N	AEFDHCI	0.070578	0.14017	N	-1.5934040966404	0.01298	0.05650825	-1.69436569463707	0.01162	0.05229985	0.394897223316251	0.20079	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.66	-8.52	0.00801	-0.587000	0.05874	-5.250000	0.01790	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.0891:0.4553	11.110	0.47447	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.000000	0.000000	0.050000	0.000000	0.012195	0.011364	0.08333	543.83	64	chr8	2974553	.	C	T	543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.85;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.493;SOR=0.71	GT:AD:DP:GQ:PL	0/1:44,20:64:99:554,0,949	5	0	1	0
chr8	8328402	8328402	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon5:c.G2380A:p.V794I,PRAG1:NM_001369759:exon5:c.G2380A:p.V794I	.	417	1102	2	1	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00890788794536	8.1e-05	0.00159744	0.0008	0.0001	0.0002	0.0001	0	0.0002	0	0.0047	0.0006921	107	154602	rs202114232	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.236e-05	0.0011	2.519e-05	0	0.0019	8.094e-05	0.0003	0.0044	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	2.409e-05	0	0	0.0006	0	0	0	7.354e-05	0	0.0058	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.000235	0.47286	D	0.000000	0.96736	0.25852	N	.	.	.	.	.	.	.	.	.	0.279	0.31590	-0.9988	0.30255	T	0.129	0.43787	T	10	0.0078550875	0.00178	T	0.008908	0.23487	T	.	.	.	.	0.0806252709748	0.07271	0.09650026235197756	0.09582	.	.	0.478297293186	0.35821	T	0.04315	0.26411	T	-0.359451	0.04161	T	-0.288974	0.45880	T	0.0584335504470382	0.06919	T	0.747125	0.36767	T	0.016736116	0.00218	0.043512616	0.05432	0.016736116	0.00218	0.043512616	0.05431	-3.88	0.22002	T	.	.	0.093	0.14155	B	.;.	.;.	2.979278	0.39734	21.0	0.97606978037481562	0.34881	0.49576	0.28464	N	AEFDBI	0.090539	0.18345	N	-0.0941172914403514	0.37649	2.193525	-0.115267178475584	0.34774	2.004124	0.999999475248285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.838000	0.38851	1.342000	0.25744	0.596000	0.33519	0.014000	0.18986	0.937000	0.28687	0.029000	0.12982	0.0:0.9166:0.0:0.0834	11.634	0.50450	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1159.83	93	chr8	8328402	.	C	T	1159.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=263;ExcessHet=0;FS=0.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.362;SOR=0.844	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1170,0,1147	5	0	1	0
chr8	10319942	10319942	G	A	exonic	MSRA	.	nonsynonymous SNV	MSRA:NM_001135670:exon4:c.G376A:p.A126T,MSRA:NM_001135671:exon5:c.G367A:p.A123T,MSRA:NM_012331:exon5:c.G496A:p.A166T,MSRA:NM_001199729:exon6:c.G298A:p.A100T	.	.	.	.	.	.	.	.	.	.	.	3365303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00231704212706	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs778510160	1.172e-05	1.436e-05	1.234e-05	1.11e-05	4.641e-05	7.14e-06	5.84e-06	7.69e-06	5.74e-06	0	4.641e-05	0	0	0	0	1.265e-05	1.667e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.279	0.30375	T	0.171	0.31326	T	0.001	0.07471	B	0.002	0.10090	B	0.257970	0.15374	N	0.672047	1	0.08975	N	0.3	0.10203	N	.	.	.	-0.52	0.18877	N	0.141	0.19593	-1.0053	0.28368	T	0.065	0.26983	T	8	0.08103067	0.13220	T	0.002317	0.04479	T	0.008	0.00669	.	.	0.0884992946249	0.08302	0.22846338969110827	0.22761	0.00170528863853	0.00144	0.272564828396	0.06477	T	0.248677	0.61852	T	-0.329415	0.06155	T	-0.52943	0.19343	T	0.0222673397511244	0.00939	T	.	.	.	0.03828472	0.05070	0.046465192	0.06480	0.03828472	0.05070	0.046465192	0.06480	-4.576	0.31869	T	.	.	0.074	0.09336	B	.;.;.;.;.	.;.;.;.;.	0.935295	0.13106	9.609	0.93858076411335956	0.23862	0.03091	0.08015	N	AEFBI	0.233029	0.35602	N	-0.623223937898488	0.18249	0.9458694	-0.768861660133933	0.15259	0.8016601	0.00257159069584194	0.09543	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	-0.658	0.10855	-0.178000	0.09775	-1.776000	0.04747	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2338:0.1497:0.41:0.2065	1.256	0.01871	946	0.12043	Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA;.;Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1346.83	111	chr8	10319942	.	G	A	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.793;DP=287;ExcessHet=0;FS=0.711;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.23;SOR=0.576	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1357,0,1327	5	0	1	0
chr8	10610092	10610092	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4006A:p.V1336M	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00114577688842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.993e-06	8.955e-06	5.944e-06	6.043e-06	3.264e-05	2.58e-06	1.86e-06	7.7e-07	2.1e-07	3.264e-05	0	0	0	8.69e-05	0	2.896e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.43	0.05440	T	-0.27	0.11366	N	0.135	0.13198	-0.9617	0.38858	T	0.009	0.03227	T	9	0.06748101	0.09407	T	0.001146	0.01410	T	0.040	0.10527	0.199	0.11247	0.0401082797425	0.02173	0.07222556414626348	0.07159	.	.	0.29433619976	0.09559	T	0.029574	0.21161	T	-0.360728	0.04089	T	-0.755937	0.03260	T	0.0672599761496024	0.08261	T	0.427757	0.11540	T	0.024466448	0.01281	0.05155163	0.08318	0.024466448	0.01281	0.05155163	0.08317	-7.74	0.59285	D	.	.	0.145	0.32054	B	.	.	0.126759	0.05232	1.737	0.93971475685794903	0.24046	0.01097	0.04030	N	AEFDBI	0.017489	0.00462	N	-0.928810513650289	0.10172	0.4848509	-0.944094959129912	0.11060	0.5611587	1.26160858260043E-4	0.05386	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	2.78	1.84	0.24348	-0.013000	0.12615	-0.116000	0.11774	-0.640000	0.04453	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	0.0:0.5315:0.2266:0.2418	3.607	0.07591	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.83	55	chr8	10610092	.	C	T	332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.237;DP=1140;ExcessHet=0;FS=11.659;MLEAC=1;MLEAF=0.083;MQ=59.03;MQRankSum=-0.642;QD=6.05;ReadPosRankSum=-2.318;SOR=2.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,27:55:99:0|1:10610092_C_T:343,0,404:10610092	5	0	1	0
chr8	31091882	31091882	C	A	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon16:c.C1882A:p.L628I	Werner syndrome, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	396185	Werner_syndrome|not_provided	MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00844216436885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77969734	6.846e-06	7.524e-06	4.087e-06	9.633e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.7e-06	6.63e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.444	0.13177	T	0.08	0.24543	B	0.091	0.29943	B	0.496365	0.12000	N	0.756014	0.999957	0.19072	N	0.695	0.17993	N	3.54	0.04799	T	-0.47	0.15178	N	0.137	0.13484	-0.9172	0.45931	T	0.011	0.03996	T	10	0.08407211	0.14054	T	0.008442	0.22332	T	0.082	0.23913	0.579	0.70476	0.276898752692	0.27294	0.4540127183215048	0.45319	0.101851402616	0.11526	0.314609020948	0.12604	T	0.047653	0.27785	T	-0.439753	0.01297	T	-0.687923	0.06509	T	0.0266259025274164	0.01491	T	0.647135	0.25820	T	0.08215397	0.18912	0.03846268	0.03719	0.08215397	0.18912	0.03846268	0.03719	-4.865	0.35339	T	.	.	0.079	0.07177	B	.	.	0.970752	0.13477	9.988	0.89761278805138589	0.19078	0.06831	0.12856	N	AEFBI	0.026645	0.02036	N	-0.764372050483825	0.14245	0.7080725	-0.697553998994765	0.17021	0.9031948	1.02646181355199E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	0.95	0.18697	0.032000	0.13620	-0.311000	0.10039	0.599000	0.40250	0.290000	0.25233	0.080000	0.22369	0.280000	0.24017	0.4407:0.3852:0.0985:0.0756	5.019	0.13692	929	0.16858	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	718.83	74	chr8	31091882	.	C	A	718.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.035;DP=244;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.62;SOR=0.544	GT:AD:DP:GQ:PL	0/1:40,34:74:99:729,0,1010	5	0	1	0
chr8	35766935	35766935	C	T	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon15:c.C2332T:p.R778W,UNC5D:NM_080872:exon15:c.C2347T:p.R783W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0177795975324	.	.	1.656e-05	0	0	0	0	1.504e-05	0	6.171e-05	1.94e-05	3	154602	rs776286236	1.437e-05	1.505e-05	1.089e-05	1.788e-05	6.713e-05	9.23e-06	7.84e-06	1.78e-05	8.93e-06	5.975e-05	6.713e-05	0	0	0	0	9.894e-06	3.312e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.61437	D	0.001	0.83351	D	0.996	0.73220	D	0.549	0.55529	P	0.002543	0.36353	N	0.306161	0.97183	0.41471	D	1.04	0.26193	L	0.55	0.55266	T	-3.51	0.71882	D	0.315	0.37613	-0.8119	0.54435	T	0.172	0.51325	T	10	0.24121574	0.41295	T	0.01778	0.39611	T	0.213	0.50496	.	.	0.043077524339	0.03247	0.31848388457085863	0.31761	0.974683858962	0.73517	0.512889385223	0.40626	T	0.240032	0.60827	T	-0.266257	0.12177	T	-0.383568	0.35305	T	0.327166193854221	0.26111	T	0.913909	0.77922	D	0.17509648	0.38349	0.16571566	0.38322	0.17509648	0.38349	0.16571566	0.38321	-8.119	0.62385	D	.	.	0.129	0.27642	B	.;.;.;.;.;.	.;.;.;.;.;.	4.264982	0.64845	24.8	0.9992083301251854	0.98721	0.96624	0.70078	D	AEFI	0.775157	0.70865	D	0.309724173608597	0.56646	3.829693	0.345187421716337	0.58219	3.991108	0.320688463292029	0.19381	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.79	4.0	0.45673	3.411000	0.52425	0.897000	0.22519	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.8646:0.0:0.1354	12.461	0.55070	682	0.59757	UPA domain;UPA domain;UPA domain;UPA domain;.;UPA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	962.83	65	chr8	35766935	.	C	T	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=245;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.447;SOR=0.563	GT:AD:DP:GQ:PL	0/1:31,34:65:99:973,0,826	5	0	1	0
chr8	37872011	37872011	C	T	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.G2791A:p.E931K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0252995184957	7.7e-05	.	5.784e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs370083013	4.857e-05	4.857e-05	4.764e-05	4.95e-05	0.0003	3.926e-05	3.605e-05	6.092e-05	2.671e-05	5.974e-05	0	0.0006	0	0	0.0003	3.957e-05	9.934e-05	1.159e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	6.544e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0.0006	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.018	0.59732	D	1.0	0.90584	D	0.995	0.83170	D	0.000073	0.52346	D	0.000000	0.829463	0.81001	D	2.28	0.64929	M	1.66	0.27486	T	-1.51	0.36787	N	0.317	0.35727	-1.0479	0.14988	T	0.126	0.43236	T	10	0.16712287	0.31188	T	0.025	0.48274	D	0.173	0.43840	.	.	0.482357354261	0.47867	0.11131213914209154	0.11060	0.441933971099	0.44173	0.42034381628	0.27883	T	0.005552	0.05002	T	-0.118288	0.33405	T	-0.344043	0.39887	T	0.538108646869659	0.34034	D	0.763824	0.39073	T	0.27833936	0.50888	0.30315858	0.56347	0.27833936	0.50888	0.30315858	0.56346	-3.808	0.20924	T	.	.	0.239	0.47305	B	.	.	4.042488	0.59857	24.1	0.99920122031456704	0.98721	0.88569	0.48558	D	AEFDBCIJ	0.301814	0.41023	N	0.194398555552436	0.50929	3.278488	0.119216758686369	0.45532	2.814732	0.99999999862598	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.19	5.19	0.71428	2.657000	0.46389	4.007000	0.41127	0.599000	0.40250	0.523000	0.27135	0.999000	0.35428	0.858000	0.40661	0.0:1.0:0.0:0.0	15.443	0.74927	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2433.83	187	chr8	37872011	.	C	T	2433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=379;ExcessHet=0;FS=5.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.57;SOR=1.055	GT:AD:DP:GQ:PL	0/1:99,88:187:99:2444,0,2525	5	0	1	0
chr8	37872968	37872968	T	C	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.A1834G:p.I612V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0066	0.00798722	0.0030	0.0191	0.0010	0	0	0.0001	0	0.0085	0.0027296	422	154602	rs79502532	0.0013	0.0013	0.0012	0.0015	0.0189	0.0013	0.0013	0.0177	0.0172	0.0189	0.0011	7.652e-05	2.519e-05	0	0.0012	0.0003	0.0019	0.0089	0.0060	0.0060	0.0062	0.0058	0.0195	0.0057	0.0055	0.0184	0.0180	0.0195	0	0.0019	0.0003	0	0	0	0.0002	0.0014	0.0116	0.414	0.10020	T	0.392	0.15406	T	0.022	0.18677	B	0.01	0.14941	B	0.204720	0.16512	N	0.573508	1	0.08975	N	1.655	0.42436	L	2.46	0.14907	T	-0.4	0.13805	N	0.069	0.04188	-0.9817	0.34608	T	0.010	0.03765	T	10	0.0030185282	0.00049	T	.	.	.	0.009	0.00846	.	.	0.227260227426	0.22338	0.07184475373024962	0.07121	0.0619570086035	0.06898	0.231771245599	0.02102	T	0.002488	0.01875	T	-0.730944	0.00024	T	-0.80647	0.01746	T	0.000388127108668144	0.00003	T	0.560444	0.19591	T	0.021733193	0.00792	0.026590774	0.00757	0.021733193	0.00792	0.026590774	0.00757	-1.995	0.03162	T	.	.	0.066	0.02091	B	.	.	-0.521796	0.01798	0.140	0.3303954295498972	0.01947	0.19393	0.20643	N	AEFBCI	0.080309	0.16234	N	-1.21220584718371	0.04821	0.2184404	-1.1934040331098	0.06020	0.2885019	0.999606575572457	0.40866	0.566229	0.32551	0	0.615513	0.52658	0	0.679469	0.61720	0	0.613276	0.41899	0	.	.	5.8	0.706	0.17290	-0.566000	0.06013	-2.304000	0.03925	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1372:0.411:0.0:0.4518	5.649	0.16884	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1590.83	125	chr8	37872968	.	T	C	1590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.647;SOR=0.744	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1601,0,1873	5	0	1	0
chr8	38413726	38413727	CT	-	exonic	FGFR1	.	frameshift deletion	FGFR1:NM_001174066:exon17:c.2103_2104del:p.E703Gfs*7,FGFR1:NM_001354368:exon17:c.2091_2092del:p.E699Gfs*7,FGFR1:NM_023105:exon17:c.2103_2104del:p.E703Gfs*7,FGFR1:NM_023106:exon17:c.2097_2098del:p.E701Gfs*7,FGFR1:NM_001174063:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_001174065:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_015850:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_023110:exon18:c.2370_2371del:p.E792Gfs*7,FGFR1:NM_001174064:exon19:c.2340_2341del:p.E782Gfs*7,FGFR1:NM_001174067:exon19:c.2463_2464del:p.E823Gfs*7	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1453180	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|not_provided|Encephalocraniocutaneous_lipomatosis|Jackson-Weiss_syndrome|Osteoglophonic_dysplasia|Hartsfield-Bixler-Demyer_syndrome|Trigonocephaly_1	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C3661900|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645|MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.536e-05	0	0.0007	8.41e-05	13	154602	rs767698667	4.378e-05	4.446e-05	3.403e-05	5.363e-05	0.0005	3.509e-05	3.193e-05	0.0003	0.0003	0	0	3.827e-05	5.038e-05	0	0	1.529e-05	6.624e-05	0.0005	4.598e-05	4.593e-05	5.14e-05	4.031e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	1.471e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1881.79	101	chr8	38413725	.	CCT	C	1881.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=278;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=0.5;SOR=0.916	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1892,0,2010	5	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	65.07	156	chr8	39963621	.	A	G	65.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.13;DP=652;ExcessHet=0.4139;FS=103.292;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.81;SOR=8.862	GT:AD:DP:GQ:PL	0/1:122,34:156:59:59,0,2088	4	0	2	0
chr8	47817561	47817561	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon68:c.G9446A:p.G3149D,PRKDC:NM_006904:exon68:c.G9446A:p.G3149D	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	3	1451	65	3	0	71	0.0238816	.	.	.	457879	not_provided|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|Malignant_tumor_of_breast|not_specified	MedGen:C3661900|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0036	0.00838658	0.0088	0.0056	0.0052	0	0	0.0055	0.0087	0.0272	0.0044631	690	154602	rs8178208	0.0037	0.0038	0.0031	0.0044	0.0248	0.0037	0.0036	0.0239	0.0235	0.0043	0.0030	0.0059	0.0001	5.729e-05	0.0210	0.0022	0.0053	0.0248	0.0039	0.0039	0.0037	0.0040	0.0251	0.0036	0.0035	0.0215	0.0201	0.0044	0	0.0026	0.0081	0.0002	9.446e-05	0.0136	0.0029	0.0066	0.0251	.	.	.	0.183	0.29153	T	0.029	0.19866	B	0.094	0.30180	B	0.000949	0.40932	D	0.217402	0.999991	0.58761	D	1.76	0.45711	L	.	.	.	.	.	.	0.169	0.17966	-0.6439	0.62979	T	0.302	0.67279	T	10	0.0056990087	0.00127	T	0.009362	0.24553	T	0.136	0.36778	.	.	0.474515700568	0.47080	0.34185097520819946	0.34098	0.257240741173	0.28296	0.47807687521	0.35791	T	0.077021	0.35556	T	-0.374624	0.03366	T	-0.293978	0.45356	T	0.012189863090418	0.00196	T	0.777822	0.41150	T	0.27504557	0.50569	0.21136695	0.45563	0.2726713	0.50336	0.29716197	0.55748	-3.016	0.12129	T	.	.	0.131	0.28319	B	.;.	.;.	2.214422	0.28255	17.74	0.9353510979718791	0.23359	0.85155	0.44264	D	AEFDBHCI	0.523992	0.54736	D	-0.08396049542195	0.38095	2.226033	0.0505750619888519	0.42099	2.540583	0.999999999834419	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	2.351000	0.43727	1.405000	0.26230	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	19.801	0.96506	612	0.66786	PIK-related kinase, FAT|PIK-related kinase;.	.	.	.	.	.	Likely benign	0	0	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	0.016616	0.010101	0.017663	0.020468	0.000000	0.025862	0.009146	0.022727	0.08333	518.83	52	chr8	47817561	.	C	T	518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.724;DP=219;ExcessHet=0;FS=2.407;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.301;SOR=1.068	GT:AD:DP:GQ:PL	0/1:32,20:52:99:529,0,817	5	0	1	0
chr8	66666951	66666951	T	C	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.A8G:p.Q3R	.	330	1178	14	0	0	14	0.00590717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0007	0.00319489	0.0033	0.0002	0.0017	0.0002	0	0.0017	0.0062	0.0151	0.0015912	246	154602	rs201004658	0.0012	0.0012	0.0010	0.0014	0.0083	0.0011	0.0011	0.0073	0.0071	6.394e-05	0.0007	0.0057	7.637e-05	8.021e-05	0.0083	0.0007	0.0015	0.0078	0.0009	0.0009	0.0008	0.0010	0.0091	0.0008	0.0007	0.0070	0.0062	0.0001	0	0.0005	0.0049	0	0	0.0068	0.0008	0.0014	0.0091	0.0	0.91255	D	0.046	0.49120	D	0.967	0.56408	D	0.901	0.63994	P	0.066068	0.21835	N	0.453010	0.999972	0.53665	D	1.39	0.34934	L	1.52	0.30669	T	-0.11	0.08653	N	0.411	0.45142	-0.9749	0.36148	T	0.129	0.43686	T	10	0.007842988	0.00178	T	.	.	.	0.228	0.52768	.	.	0.423328145879	0.41948	0.2321000444721787	0.23125	0.674172896119	0.59628	0.710390210152	0.68650	T	0.018462	0.14879	T	-0.171264	0.25044	T	-0.0133772	0.69463	D	0.214245093661126	0.21172	T	0.564244	0.19889	T	0.5113944	0.67760	0.5687035	0.75030	0.5113944	0.67761	0.5687035	0.75030	-5.294	0.39884	T	.	.	0.12	0.24767	B	.	.	4.162688	0.62525	24.5	0.93248031259094577	0.22937	0.91812	0.54316	D	ALL	0.660630	0.63113	D	0.611781872294092	0.73917	6.045309	0.65991680021798	0.79352	7.064	0.999999999999945	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	6.03	6.03	0.97798	5.376000	0.65931	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.232	0.82169	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007630	0.000000	0.010929	0.011765	0.000000	0.000000	0.015337	0.003788	0.08333	139.83	20	chr8	66666951	.	T	C	139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.148;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.911;SOR=0.527	GT:AD:DP:GQ:PL	0/1:13,7:20:99:150,0,381	5	0	1	0
chr8	72937987	72937987	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2632G:p.S878G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0471189628232	7.7e-05	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs373156197	4.788e-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	0	0	0	4.497e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.356	0.12070	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.168479	0.03092	U	1.982250	0.953954	0.26386	N	0.695	0.17993	N	-4.2	0.96934	D	0.07	0.06138	N	0.044	0.01658	-0.0912	0.80300	T	0.751	0.91514	D	10	0.05726239	0.06550	T	0.047119	0.62773	D	0.259	0.57090	.	.	0.579588314073	0.57628	0.0778450964086712	0.07720	0.508890419231	0.49035	0.279488265514	0.07421	T	0.072755	0.34531	T	-0.196818	0.21266	T	-0.283823	0.46410	T	0.0586739292015086	0.06957	T	0.630137	0.24490	T	0.10067281	0.23774	0.10832253	0.26093	0.10067281	0.23773	0.10832253	0.26092	-4.117	0.25540	T	.	.	0.062	0.01348	B	.	.	1.780997	0.22647	15.70	0.94136989775421687	0.24324	0.96711	0.70532	D	AEFBI	0.499379	0.53309	N	-0.338481625165133	0.27699	1.521746	-0.13834610741652	0.33860	1.94138	0.0234718618751767	0.13510	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	4.01	0.45821	3.693000	0.54467	4.157000	0.42186	0.626000	0.51810	0.989000	0.36753	0.988000	0.31051	0.988000	0.63387	0.9266:0.0:0.0734:0.0	10.919	0.46367	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1111.83	88	chr8	72937987	.	A	G	1111.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.051;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.119;SOR=0.707	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1122,0,1214	5	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.000000	0.010870	0.032164	0.000000	0.017241	0.027439	0.022727	0.08333	1075.83	89	chr8	86064021	.	T	G	1075.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.434;DP=268;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.562;SOR=0.475	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1086,0,1349	5	0	1	0
chr8	98033116	98033116	T	C	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon16:c.T2533C:p.F845L,MATN2:NM_002380:exon17:c.T2656C:p.F886L,MATN2:NM_030583:exon17:c.T2599C:p.F867L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0075	0.0091853	0.0030	0.0326	0.0013	0	0	0.0001	0	0.0001	0.0024191	374	154602	rs149724220	0.0007	0.0007	0.0008	0.0006	0.0249	0.0007	0.0007	0.0235	0.0230	0.0249	0.0013	0	0	0	0.0026	4.411e-05	0.0013	0.0001	0.0075	0.0076	0.0078	0.0073	0.0260	0.0072	0.0070	0.0247	0.0241	0.0260	0	0.0023	0	0	0	0.0068	0.0002	0.0090	0	0.16	0.57480	T	0.209	0.65728	T	0.663	0.64070	P	0.159	0.53321	B	0.000004	0.62929	D	0.000000	0.946521	0.41983	D	1.1	0.28011	L	-1.51	0.81478	D	-0.75	0.24676	N	0.63	0.81360	-1.0394	0.17495	T	0.065	0.26913	T	10	0.008822709	0.00200	T	.	.	.	0.370	0.68930	0.257	0.19845	0.869680927452	0.86841	0.4494858763306572	0.44866	0.499162885821	0.48370	0.637112677097	0.58154	T	0.040174	0.25439	T	-0.258816	0.13039	T	-0.123598	0.61505	T	0.0196699237022804	0.00670	T	0.89801	0.64352	D	0.14079723	0.32469	0.15573633	0.36493	0.14079723	0.32469	0.15573633	0.36492	-2.315	0.04638	T	.	.	0.778	0.80123	P	.;.;.;.;.	.;.;.;.;.	4.514317	0.70726	25.6	0.99846524486928834	0.92663	0.93624	0.58728	D	AEFGBI	0.777784	0.71048	D	0.163906528454077	0.49473	3.147232	0.260175364402481	0.53229	3.493012	0.999999258258362	0.74766	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.76	4.59	0.56297	4.903000	0.62964	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.138:0.0:0.0:0.862	11.075	0.47246	836	0.38045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	594.83	52	chr8	98033116	.	T	C	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.695;SOR=0.651	GT:AD:DP:GQ:PL	0/1:30,22:52:99:605,0,779	5	0	1	0
chr8	100063762	100063762	C	T	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon6:c.G463A:p.V155I,RGS22:NM_001286692:exon8:c.G970A:p.V324I,RGS22:NM_015668:exon8:c.G1006A:p.V336I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00902388936096	.	.	5.807e-05	0	0.0003	0	0	3.001e-05	0	6.058e-05	7.12e-05	11	154602	rs763021411	6.704e-05	6.704e-05	6.671e-05	6.738e-05	0.0003	5.629e-05	5.172e-05	0.0001	7.818e-05	8.961e-05	0.0002	0	0	0	0.0003	6.925e-05	8.281e-05	2.319e-05	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0002	2.555e-05	1.828e-05	5.28e-05	2.833e-05	0	0	0.0002	0	0	0	0	5.88e-05	0.0005	0	0.461	0.09209	T	0.599	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.130890	0.02807	N	1.693580	1	0.08975	N	-0.69	0.01958	N	1.56	0.29602	T	0.22	0.05217	N	0.035	0.01498	-1.0819	0.06984	T	0.026	0.11176	T	10	0.037082464	0.02041	T	0.009024	0.23750	T	0.027	0.05988	.	.	0.318828661733	0.31499	0.057391571074801424	0.05680	0.0460706449521	0.05005	0.238987907767	0.02700	T	0.001567	0.05804	T	-0.622805	0.00106	T	-0.838906	0.01115	T	0.0417756964561273	0.04013	T	0.611839	0.23263	T	0.020680659	0.00636	0.020581933	0.00143	0.020680659	0.00636	0.020581933	0.00143	-3.653	0.18671	T	.	.	0.071	0.04198	B	.;.;.;.	.;.;.;.	-1.340154	0.00405	0.008	0.29228266280589732	0.01540	0.02138	0.06301	N	AEFI	0.050534	0.08842	N	-1.82247438572251	0.00492	0.02119611	-1.91527583643763	0.00457	0.02020907	0.999371465217372	0.39355	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	-11.7	0.00035	-2.149000	0.01377	-1.075000	0.06408	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0855:0.2819:0.4279:0.2047	5.886	0.18131	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1114.83	82	chr8	100063762	.	C	T	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.495;DP=254;ExcessHet=0;FS=5.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.306;SOR=1.018	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1125,0,1042	5	0	1	0
chr8	107322046	107322046	G	C	exonic	ANGPT1	.	nonsynonymous SNV	ANGPT1:NM_001314051:exon3:c.C58G:p.Q20E,ANGPT1:NM_001146:exon4:c.C658G:p.Q220E,ANGPT1:NM_001199859:exon4:c.C658G:p.Q220E	.	.	.	.	.	.	.	.	.	.	.	1357128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0171720266397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.36912	T	0.24	0.26145	T	0.085	0.39964	B	0.033	0.34249	B	0.000002	0.62929	D	0.103838	1	0.81001	D	1.98	0.53716	M	1.04	0.52642	T	-1.93	0.44852	N	0.618	0.65416	-1.0103	0.26823	T	0.103	0.37994	T	10	0.49685463	0.61317	T	0.017172	0.38759	T	0.162	0.41843	0.287	0.24601	0.69697033627	0.69435	.	.	0.213971234726	0.23928	0.434200078249	0.29784	T	0.466	0.80110	T	-0.00609326	0.50812	T	-0.246529	0.50159	T	0.771904289722443	0.44554	D	0.884811	0.60904	D	0.24124803	0.47037	0.26114723	0.51888	0.24124803	0.47037	0.26114723	0.51887	-7.667	0.59216	D	.	.	0.091	0.14842	B	.;.;.;.	.;.;.;.	3.315292	0.45575	22.2	0.97785415582707558	0.35963	0.99356	0.94951	D	AEFBI	0.940296	0.94205	D	0.131910861863719	0.47955	3.014226	0.310656076752987	0.56165	3.779519	0.999999999999538	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	9.264000	0.94788	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.066	0.93091	876	0.30350	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	892.83	77	chr8	107322046	.	G	C	892.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.493;DP=258;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.159;SOR=0.47	GT:AD:DP:GQ:PL	0/1:42,35:77:99:903,0,1163	5	0	1	0
chr8	124039935	124039935	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon20:c.G2518A:p.A840T	.	425	1059	35	3	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	.	0.0052	0.00579073	0.0060	0.0005	0.0029	0	0.0023	0.0070	0.0033	0.0119	0.0058667	907	154602	rs142217401	0.0060	0.0060	0.0057	0.0064	0.0184	0.0059	0.0059	0.0155	0.0145	0.0016	0.0026	0.0310	0	0.0025	0.0184	0.0055	0.0076	0.0117	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0094	0.0010	0	0.0068	0.0346	0	0.0042	0.0102	0.0061	0.0038	0.0128	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.385	0.91502	M	-0.47	0.70133	T	-2.98	0.62008	D	0.743	0.74280	0.236	0.86505	D	0.489	0.80570	T	10	0.009503335	0.00214	T	.	.	.	0.573	0.82686	.	.	0.500678981321	0.49703	0.49789396815745735	0.49710	0.508400521286	0.48994	0.630729317665	0.57248	T	0.371066	0.73549	T	-0.0170175	0.49277	T	0.213167	0.83826	D	0.0513036213528473	0.05727	T	0.968103	0.88413	D	0.38378093	0.59588	0.51439893	0.71942	0.38378093	0.59589	0.51439893	0.71942	-11.287	0.81209	D	.	.	0.749	0.74994	P	.	.	5.545356	0.92002	32	0.99946500699424612	0.99901	0.93654	0.58812	D	ALL	0.893354	0.83121	D	1.02785673737034	0.96537	14.81895	0.962320638862546	0.97756	16.70569	1.0	0.98316	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.64	5.64	0.86480	9.968000	0.99102	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.473	0.90727	686	0.59327	C2 domain|C2 domain|C2 domain|Ferlin, fourth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.020380	0.017544	0.000000	0.008621	0.021341	0.015152	0.08333	2816.83	170	chr8	124039935	.	G	A	2816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.762;DP=368;ExcessHet=0;FS=9.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=0.579;SOR=0.29	GT:AD:DP:GQ:PL	0/1:64,106:170:99:2827,0,1436	5	0	1	0
chr8	124451696	124451696	G	C	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G769C:p.G257R	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0009	0.00399361	0.0045	0.0002	0.0009	0	0	0.0009	0.0066	0.0285	0.0038809	600	154602	rs148858836	0.0020	0.0020	0.0012	0.0028	0.0253	0.0019	0.0019	0.0244	0.0241	0.0003	0.0010	0.0015	0	1.872e-05	0.0092	0.0004	0.0024	0.0253	0.0014	0.0014	0.0009	0.0019	0.0237	0.0012	0.0012	0.0201	0.0188	9.624e-05	0	0.0014	0.0012	0	0	0.0068	0.0008	0.0047	0.0237	0.387	0.10945	T	0.787	0.04234	T	0.277	0.31978	B	0.292	0.40739	B	0.099600	0.19926	N	0.571867	0.99991	0.19694	N	1.065	0.27018	L	1.13	0.38556	T	0.73	0.02068	N	0.183	0.19861	-1.0247	0.22181	T	0.105	0.38366	T	10	0.0047546923	0.00100	T	.	.	.	0.097	0.27909	.	.	0.082315109003	0.07666	0.6696233123562838	0.66900	0.328560466209	0.34964	0.59677696228	0.52450	T	0.002738	0.02136	T	-0.452658	0.01090	T	-0.402716	0.33068	T	0.0453637498981926	0.04668	T	0.946005	0.79398	D	0.18428667	0.39737	0.17261861	0.39530	0.18428667	0.39737	0.17261861	0.39530	-4.047	0.24504	T	.	.	0.087	0.10979	B	.	.	3.296526	0.45235	22.1	0.97430559167786401	0.33926	0.58537	0.30668	D	AEFGBCI	0.274209	0.38945	N	0.0604140368447166	0.44623	2.732964	0.196258597748989	0.49640	3.164913	0.999998147199328	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.66	4.77	0.60425	3.574000	0.53608	4.972000	0.46406	0.676000	0.76740	0.907000	0.31601	1.000000	0.68203	0.954000	0.50415	0.0813:0.0:0.9187:0.0	13.294	0.59724	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-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	0.009567	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.030303	0.08333	1815.83	154	chr8	124451696	.	G	C	1815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.647;DP=355;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0;SOR=0.578	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1826,0,2390	5	0	1	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	.	.	.	.	.	.	.	.	0.3	207.59	102	chr8	132010871	.	G	C	207.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.486;DP=687;ExcessHet=1.383;FS=212.538;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.918;SOR=9.926	GT:AD:DP:GQ:PL	0/1:67,35:102:99:124,0,1114	2	0	3	1
chr8	133191182	133191182	C	T	exonic	CCN4	.	nonsynonymous SNV	CCN4:NM_001204869:exon1:c.C38T:p.T13I,CCN4:NM_001204870:exon1:c.C38T:p.T13I,CCN4:NM_003882:exon1:c.C38T:p.T13I,CCN4:NM_080838:exon1:c.C38T:p.T13I	.	430	1077	13	2	0	17	0.00783049	.	.	.	3292544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0356155637784	0.0005	0.000199681	0.0004	0	0.0004	0	0	0.0004	0.0029	0.0007	0.000304	47	154602	rs149172980	0.0004	0.0004	0.0004	0.0004	0.0107	0.0004	0.0003	0.0085	0.0077	0.0002	0.0004	0.0016	0	0	0.0107	0.0003	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.812e-05	0	0.0006	0.0014	0	0	0	0.0004	0.0009	0.0012	0.113	0.43085	T	0.304	0.92824	T	0.001	0.12996	B	0.002	0.11217	B	0.564578	0.05444	N	1.249740	0.783441	0.34296	D	1.39	0.34934	L	-1.18	0.82806	T	-1.15	0.32590	N	0.271	0.34981	-0.6517	0.62640	T	0.344	0.70964	T	10	0.03453362	0.01665	T	0.035616	0.56462	D	0.280	0.59740	.	.	0.657540335597	0.65467	0.2011292496138533	0.20029	0.638599242714	0.57569	0.468920230865	0.34531	T	0.060963	0.31527	T	-0.226253	0.17148	T	-0.222224	0.52522	T	0.0302072114409639	0.02021	T	0.678032	0.28700	T	0.06633928	0.14263	0.08049462	0.18213	0.06633928	0.14262	0.08049462	0.18213	-4.709	0.34440	T	.	.	0.165	0.49186	B	.;.;.;.	.;.;.;.	2.833218	0.37356	20.5	0.99505252323292237	0.68264	0.68000	0.33638	D	AEFDGBI	0.053565	0.09663	N	-0.541885250640801	0.20739	1.095508	-0.380996507100726	0.25564	1.406622	0.999999958140857	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	3.53	0.39533	0.549000	0.23037	1.702000	0.28138	0.599000	0.40250	0.597000	0.27722	0.888000	0.27792	0.980000	0.58198	0.0:0.8134:0.0:0.1866	8.746	0.33750	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	0.009654	0.000000	0.009511	0.014706	0.000000	0.034483	0.006289	0.003817	0.08333	610.83	41	chr8	133191182	.	C	T	610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.217;DP=198;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.039;SOR=0.963	GT:AD:DP:GQ:PL	0/1:18,23:41:99:621,0,519	5	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	0.08333	901.83	50	chr8	143538164	.	C	G	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.348;DP=239;ExcessHet=0;FS=2.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=2.01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,31:50:99:912,0,537	5	0	1	0
chr8	143572046	143572046	C	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon2:c.G434A:p.R145Q	.	.	.	.	.	.	.	.	.	.	.	4036152	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.017755562794	.	.	2.742e-05	0.0002	0	0	0	1.652e-05	0	0	1.94e-05	3	154602	rs749927588	3.015e-05	3.01e-05	2.727e-05	3.307e-05	3.69e-05	2.286e-05	2.036e-05	2.745e-05	2.47e-05	2.991e-05	0	3.842e-05	0	0	0	3.69e-05	0	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.138	0.37326	T	0.04	0.50809	D	0.109	0.34565	B	0.004	0.19966	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.06	0.23486	T	-1.1	0.28497	N	0.138	0.13626	-1.0363	0.18450	T	0.037	0.16116	T	9	0.045329392	0.03591	T	0.017756	0.39584	T	0.025	0.05312	0.481	0.56142	0.0138822411134	0.00435	0.11824318341368135	0.11751	0.0632332699335	0.07035	0.424960672855	0.28519	T	0.004614	0.04018	T	-0.498588	0.00582	T	-0.674529	0.07321	T	0.0365666019412381	0.03079	T	.	.	.	0.05244244	0.09781	0.057054643	0.10303	0.05244244	0.09781	0.057054643	0.10303	-4.831	0.34951	T	.	.	0.077	0.17060	B	.;.	.;.	1.363388	0.17728	13.33	0.98090707337059191	0.38189	0.01747	0.05507	N	AEFDGBHCI	0.097115	0.19593	N	-0.854340083519331	0.11944	0.5792772	-0.919678819888649	0.11631	0.593681	0.999999762507752	0.74766	0.652421	0.48094	0	0.550933	0.16991	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.3	1.25	0.20475	-1.448000	0.02501	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.0:0.6141:0.0:0.3859	5.344	0.15303	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	.	.	.	.	.	.	.	.	0.08333	820.83	63	chr8	143572046	.	C	T	820.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.8;DP=243;ExcessHet=0;FS=3.669;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.681;SOR=1.284	GT:AD:DP:GQ:PL	0/1:36,27:63:99:831,0,968	5	0	1	0
chr8	143983707	143983707	C	G	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon7:c.G1918C:p.E640Q,PARP10:NM_032789:exon8:c.G1882C:p.E628Q	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.021724734783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.50676	D	0.069	0.43913	T	0.121	0.26708	B	0.035	0.22741	B	0.038449	0.24284	U	0.192298	0.999975	0.18612	N	2.175	0.60977	M	2.65	0.12676	T	-0.92	0.28290	N	0.209	0.24135	-1.0141	0.25625	T	0.021	0.08963	T	10	0.07924113	0.12724	T	0.021725	0.44537	T	0.010	0.01040	0.162	0.06618	0.319970858106	0.31615	0.11797040676303214	0.11724	0.616976147991	0.56145	0.281450331211	0.07695	T	0.008068	0.26942	T	-0.265485	0.12266	T	-0.619127	0.11253	T	0.199714690446854	0.20400	T	0.579642	0.20943	T	0.03561643	0.04227	0.029240828	0.01241	0.03561643	0.04226	0.029240828	0.01241	-4.7	0.33404	T	.	.	0.133	0.28750	B	.;.;.	.;.;.	1.379871	0.17910	13.44	0.97036660194201996	0.32093	0.27980	0.23428	N	AEFDGBCI	0.142058	0.26440	N	-0.90982981277919	0.10610	0.5079045	-0.964392550189288	0.10591	0.5343925	0.999582693689455	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	3.91	0.888	0.18340	-0.138000	0.10353	.	.	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.0:0.611:0.1744:0.2145	4.921	0.13224	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	519.83	39	chr8	143983707	.	C	G	519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.871;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,19:39:99:0|1:143983700_A_G:530,0,552:143983700	5	0	1	0
chr8	144247603	144247603	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon29:c.G3017A:p.R1006Q,MROH1:NM_032450:exon31:c.G3044A:p.R1015Q	.	419	1065	37	1	0	39	0.0179806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00690737734917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936258637	0.0053	0.0055	0.0048	0.0057	0.0147	0.0052	0.0051	0.0113	0.0101	0.0006	0.0034	0.0253	5.565e-05	0.0006	0.0147	0.0056	0.0066	0.0055	0.0038	0.0038	0.0041	0.0036	0.0051	0.0036	0.0035	0.0047	0.0045	0.0010	0	0.0039	0.0297	0	0.0007	0	0.0051	0.0033	0.0043	0.459	0.09458	T	0.46	0.12597	T	0.026	0.19406	B	0.001	0.04355	B	0.687961	0.10201	N	0.814201	0.999988	0.24050	N	0.53	0.13656	N	3.35	0.05989	T	0.06	0.06253	N	0.105	0.09914	-0.9061	0.47320	T	0.009	0.03011	T	10	0.005995035	0.00135	T	0.006907	0.18289	T	0.019	0.03383	0.395	0.42099	0.043077524339	0.03247	0.2598633037543448	0.25900	0.249219304912	0.27497	0.220795512199	0.01356	T	0.005178	0.04625	T	-0.358869	0.04194	T	-0.753267	0.03360	T	0.0321912840008736	0.02337	T	0.832317	0.50011	T	0.053469077	0.10121	0.060648672	0.11584	0.053469077	0.10121	0.060648672	0.11584	-7.506	0.57653	D	.	.	0.063	0.01762	B	.;.;.	.;.;.	-0.171096	0.03241	0.546	0.92187150469917256	0.21554	0.04579	0.10227	N	AEFGI	0.056406	0.10426	N	-1.1014172102638	0.06618	0.3051744	-1.09753797663091	0.07748	0.3781383	4.68950002047965E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.51	-1.81	0.07456	-1.008000	0.03774	-2.122000	0.04180	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.5122:0.1825:0.3053:0.0	4.322	0.10463	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	.	.	.	.	.	.	.	.	0.08333	1013.83	66	chr8	144247603	.	G	A	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=238;ExcessHet=0;FS=5.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.122;SOR=1.44	GT:AD:DP:GQ:PL	0/1:32,34:66:99:1024,0,812	5	0	1	0
chr8	144467299	144467299	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon4:c.G427A:p.G143R,KIFC2:NM_145754:exon4:c.G427A:p.G143R	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00617896668494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.241e-05	2.3e-07	9e-08	.	.	0	2.241e-05	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.025	0.19245	B	0.016	0.17743	B	0.062349	0.22104	N	0.232382	0.999968	0.18878	N	1.04	0.26193	L	0.99	0.41750	T	-0.23	0.10656	N	0.27	0.30574	-1.0775	0.07841	T	0.065	0.26702	T	10	0.070088714	0.10149	T	0.006179	0.16200	T	0.036	0.09122	0.151	0.05441	0.477685322099	0.47399	0.34497487929206305	0.34411	.	.	0.481361985207	0.36244	T	0.006006	0.05450	T	-0.193625	0.21729	T	-0.515906	0.20711	T	0.391018390655518	0.28603	T	0.725627	0.33984	T	0.10881236	0.25726	0.16163358	0.37587	0.10881236	0.25726	0.16163358	0.37586	-4.075	0.24920	T	.	.	0.210	0.43855	B	.;.;.	.;.;.	3.152243	0.42675	21.6	0.9987471280012914	0.95160	0.08130	0.14097	N	AEFDBCI	0.047122	0.07902	N	-0.571687812625071	0.19810	1.039644	-0.489184431236938	0.22450	1.219471	0.999985877841279	0.51787	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	4.94	2.99	0.33673	0.765000	0.26211	6.071000	0.53257	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.736000	0.35301	0.0953:0.0:0.7315:0.1732	7.202	0.25061	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	.	.	.	.	.	.	.	.	0.08333	1579.83	127	chr8	144467299	.	G	A	1579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.906;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.123;SOR=0.719	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1590,0,1798	5	0	1	0
chr8	144522890	144522890	G	C	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.C1127G:p.P376R	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.0059	0	0.0625	0	0	0	0	0.0074	0.0001035	16	154602	rs770798635	0.0001	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0033	0.0031	0	0	0	0	0	0.0013	2.73e-05	0.0002	0.0039	0.0001	0.0001	5.161e-05	0.0002	0.0031	7.606e-05	6.306e-05	0.0019	0.0015	0	0	0	0	0	0	0.0034	2.951e-05	0	0.0031	0.35	0.12305	T	0.747	0.04860	T	0.304	0.35556	B	0.106	0.37471	B	0.521090	0.11741	N	0.788517	0.999988	0.18198	N	1.735	0.44892	L	0.69	0.54728	T	0.0	0.13418	N	0.364	0.40565	-1.0385	0.17771	T	0.081	0.32002	T	10	0.005275786	0.00115	T	.	.	.	0.028	0.06331	0.35	0.34760	0.373217324921	0.36936	0.3840948352754302	0.38324	0.346373398271	0.36544	0.741952419281	0.73260	T	0.009241	0.08422	T	-0.378093	0.03202	T	-0.320185	0.42554	T	0.0833735948274168	0.10413	T	0.435856	0.12628	T	0.024911964	0.01372	0.068234265	0.14223	0.024911964	0.01371	0.068234265	0.14223	-4.135	0.25804	T	.	.	0.073	0.05979	B	.;.	.;.	1.235032	0.16299	12.45	0.31544941231542462	0.01783	0.23753	0.22177	N	AEFDGBHCI	0.087291	0.17699	N	-0.847436031680339	0.12113	0.5884926	-0.911242191319867	0.11829	0.604999	0.999999999965303	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.15	1.19	0.20120	1.242000	0.32358	3.387000	0.38042	0.652000	0.53365	0.594000	0.27698	1.000000	0.68203	0.003000	0.05239	0.2114:0.0:0.4138:0.3748	3.245	0.06392	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	441.83	46	chr8	144522890	.	G	C	441.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.105;DP=138;ExcessHet=0;FS=2.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.552;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,18:46:99:452,0,768	5	0	1	0
chr8	144522960	144522960	C	T	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.G1057A:p.A353T	.	419	1101	1	0	1	2	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0851482909758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs192682217	1.403e-06	1.642e-05	0	2.825e-06	3.163e-05	2.3e-07	9e-08	.	.	3.163e-05	0	0	0	0	0	9.082e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.499	0.11263	T	0.054	0.22658	B	0.004	0.10090	B	0.176964	0.17210	N	0.611193	1	0.81001	D	-0.865	0.01458	N	-0.23	0.66652	T	0.25	0.04456	N	0.104	0.09349	-1.0241	0.22377	T	0.072	0.29195	T	10	0.041754693	0.02860	T	0.085148	0.74473	D	0.043	0.11576	0.291	0.25241	0.263709349026	0.25991	0.22306667276631686	0.22221	0.326545381621	0.34798	0.691911637783	0.65981	T	0.001728	0.01148	T	-0.135907	0.30542	T	-0.432998	0.29594	T	0.222983166575432	0.21612	T	0.817418	0.47426	T	0.037638497	0.04862	0.07198795	0.15479	0.037638497	0.04862	0.07198795	0.15479	-3.903	0.22348	T	.	.	0.076	0.05890	B	.;.	.;.	2.222589	0.28365	17.77	0.93398898676597653	0.23156	0.58864	0.30758	D	ALL	0.064459	0.12517	N	-0.657663427973226	0.17238	0.8852962	-0.442373535944399	0.23765	1.29778	0.999999998946365	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.73	2.73	0.31266	-0.411000	0.07205	0.512000	0.19089	0.540000	0.25189	0.000000	0.06391	0.106000	0.22736	0.968000	0.53726	0.0:0.6354:0.0:0.3646	4.919	0.13213	882	0.29131	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.83	55	chr8	144522960	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.093;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=0.885;SOR=0.683	GT:AD:DP:GQ:PL	0/1:36,19:55:99:445,0,1003	5	0	1	0
chr9	2170426	2170426	G	A	exonic	SMARCA2	.	nonsynonymous SNV	SMARCA2:NM_001289396:exon29:c.G4207A:p.V1403M,SMARCA2:NM_003070:exon29:c.G4207A:p.V1403M	Nicolaides-Baraitser syndrome, Autosomal dominant	1	1518	2	1	0	4	0.00131579	.	.	.	307904	SMARCA2-related_disorder|Inborn_genetic_diseases|Nicolaides-Baraitser_syndrome|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0159189794543	0.0002	0.000998403	0.0009	9.61e-05	0.0003	0.0002	0	0.0003	0	0.0048	0.0007697	119	154602	rs143797398	0.0005	0.0005	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	2.987e-05	0.0004	0.0013	0.0001	0	0.0003	0.0002	0.0006	0.0054	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	7.217e-05	0	0.0001	0.0017	0.0002	9.416e-05	0	0.0002	0	0.0046	0.166	0.34621	T	0.198	0.60337	T	0.979	0.59044	D	0.289	0.40655	B	0.367940	0.13571	N	0.604609	1	0.81001	D	1.245	0.31408	L	1.41	0.33412	T	-0.06	0.09627	N	0.237	0.27673	-1.1070	0.03340	T	0.033	0.14247	T	10	0.007028818	0.00160	T	0.015919	0.36914	T	0.060	0.17295	.	.	0.595572240033	0.59236	0.20220676420543485	0.20137	0.396056250186	0.40723	0.708838522434	0.68426	T	0.204515	0.56330	T	-0.482615	0.00714	T	-0.465066	0.26050	T	0.0236588715979583	0.01103	T	0.570643	0.20320	T	0.03879622	0.05237	0.053203203	0.08915	0.032384936	0.03253	0.057778113	0.10561	-4.193	0.26650	T	.	.	0.101	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.192898	0.63207	24.6	0.98530610126434925	0.42582	0.65897	0.32892	D	AEFBCI	0.252427	0.37212	N	-0.134834754371457	0.35882	2.066764	-0.0499348298662012	0.37493	2.195999	0.999963703605244	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.22	3.32	0.37134	2.422000	0.44352	7.560000	0.60459	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1063:0.0:0.8937:0.0	8.320	0.31287	940	0.13648	Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	777.83	61	chr9	2170426	.	G	A	777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.1;SOR=0.643	GT:AD:DP:GQ:PL	0/1:31,30:61:99:788,0,750	5	0	1	0
chr9	6330982	6330982	T	C	exonic	TPD52L3	.	nonsynonymous SNV	TPD52L3:NM_001001874:exon2:c.T374C:p.I125T	.	455	1065	2	0	0	2	0.000938086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00440880878892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.531e-06	7.524e-06	8.174e-06	6.882e-06	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	2.526e-05	0	0.0002	6.298e-06	3.314e-05	0	6.563e-06	6.561e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.218	0.30213	B	0.104	0.31021	B	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.25018	T	-2.21	0.49684	N	0.093	0.07262	-1.0179	0.24398	T	0.043	0.18326	T	8	0.117258936	0.22140	T	0.004409	0.10781	T	0.038	0.09825	0.643	0.78010	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.326225	0.06401	T	-0.706376	0.05484	T	0.157102164567287	0.17655	T	0.275172	0.04698	T	.	.	.	.	.	.	.	.	-4.619	0.32410	T	.	.	0.202	0.42578	B	.	.	1.454440	0.18762	13.91	0.89152670283919266	0.18554	0.07990	0.13971	N	AEFDBCI	0.035233	0.04498	N	-0.747133438099413	0.14711	0.7351443	-0.851770989011324	0.13245	0.6860404	0.938597747696079	0.27350	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	3.66	1.3	0.20778	1.344000	0.33547	1.432000	0.26455	0.586000	0.30580	0.028000	0.20300	0.171000	0.23343	0.003000	0.05239	0.0:0.2435:0.0:0.7565	5.241	0.14789	670	0.60992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1586.83	120	chr9	6330982	.	T	C	1586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.972;DP=325;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.458;SOR=0.59	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1597,0,1210	5	0	1	0
chr9	8485906	8485906	G	T	exonic	PTPRD	.	nonsynonymous SNV	PTPRD:NM_001377958:exon18:c.C2911A:p.L971I,PTPRD:NM_001378058:exon18:c.C2911A:p.L971I,PTPRD:NM_002839:exon28:c.C2911A:p.L971I	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00785079735568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.229	0.25210	T	0.464	0.36423	P	0.21	0.37304	B	0.000700	0.42383	D	0.251384	1	0.81001	D	-0.005	0.05143	N	0.42	0.56937	T	0.01	0.06868	N	0.316	0.36464	-1.0397	0.17404	T	0.066	0.27225	T	9	0.1664359	0.31081	T	0.007851	0.20824	T	0.085	0.24743	0.573	0.69695	0.117191471859	0.11215	0.1687109400099862	0.16791	.	.	0.39262381196	0.24038	T	0.061759	0.31738	T	-0.171711	0.24977	T	-0.484428	0.23976	T	0.439339339733124	0.30405	T	.	.	.	0.09378021	0.22035	0.07347126	0.15969	0.09378021	0.22035	0.07347126	0.15969	-2.538	0.06046	T	.	.	0.074	0.05535	B	.;.;.	.;.;.	3.320432	0.45663	22.2	0.9584495442555675	0.27976	0.90099	0.51015	D	AEFGBCI	0.824266	0.74420	D	-0.189706462898391	0.33562	1.905484	0.0229127724098159	0.40781	2.439338	0.949751566517376	0.27861	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.48	3.63	0.40741	5.515000	0.66765	7.481000	0.59259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1421:0.0:0.8579:0.0	11.788	0.51326	610	0.67008	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	.	.	.	.	.	.	.	.	0.08333	1463.83	81	chr9	8485906	.	G	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.11;DP=268;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.71;SOR=1.075	GT:AD:DP:GQ:PL	0/1:31,50:81:99:1474,0,794	5	0	1	0
chr9	18753507	18753507	C	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon16:c.C2216T:p.P739L	.	426	1088	7	1	0	9	0.00411899	0.0004	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	.	0.00519169	0.0035	0.0001	0.0003	0.0003	0	7.47e-05	0.0013	0.0252	0.0025485	394	154602	rs201487423	0.0013	0.0013	0.0007	0.0020	0.0214	0.0013	0.0013	0.0206	0.0203	5.99e-05	0.0001	0	0.0001	0	0.0006	2.431e-05	0.0012	0.0214	0.0007	0.0007	0.0004	0.0011	0.0228	0.0006	0.0006	0.0194	0.0181	0	0	0	0	0.0006	0	0	0	0	0.0228	0.191	0.21066	T	0.179	0.29540	T	0.002	0.09854	B	0.001	0.04355	B	0.864745	0.08868	U	0.752562	0.987119	0.40538	D	1.515	0.38264	L	0.31	0.58613	T	-1.56	0.37759	N	0.192	0.21056	-1.0329	0.19522	T	0.113	0.40445	T	10	0.0152436495	0.00320	T	.	.	.	0.080	0.23350	0.626	0.76141	0.281780670237	0.27795	0.16641864115529284	0.16561	0.0673903946155	0.07535	0.27222019434	0.06432	T	0.036446	0.24107	T	-0.544454	0.00315	T	-0.538591	0.18436	T	0.0319220872814423	0.02294	T	0.570643	0.20320	T	0.035056468	0.04053	0.042516604	0.05083	0.035056468	0.04053	0.042516604	0.05082	-3.583	0.17611	T	.	.	0.068	0.02733	B	.	.	1.676722	0.21372	15.17	0.7503823108182146	0.10922	0.78066	0.38462	D	AEFBI	0.279142	0.39326	N	-0.650706284221537	0.17440	0.8974277	-0.536271080033724	0.21170	1.144045	0.991393438800045	0.32474	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.6	-1.84	0.07387	0.923000	0.28364	-1.848000	0.04617	-2.775000	0.00191	1.000000	0.71638	0.000000	0.08366	0.550000	0.30174	0.5643:0.1898:0.0:0.2458	5.928	0.18360	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	943.83	61	chr9	18753507	.	C	T	943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.566;SOR=0.551	GT:AD:DP:GQ:PL	0/1:30,31:61:99:954,0,813	5	0	1	0
chr9	20923697	20923697	C	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon24:c.C2785G:p.L929V,FOCAD:NM_001375570:exon24:c.C2785G:p.L929V,FOCAD:NM_001375567:exon25:c.C2890G:p.L964V,FOCAD:NM_017794:exon27:c.C2890G:p.L964V	.	432	1073	12	1	4	18	0.00648148	.	.	.	2988248	FOCAD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0005	0.0113818	0.0060	0.0003	0.0010	0.0305	0	0.0001	0.0102	0.0266	0.0053816	832	154602	rs117748510	0.0027	0.0027	0.0019	0.0035	0.0273	0.0026	0.0026	0.0264	0.0260	0.0005	0.0003	0	0.0263	1.872e-05	0.0028	0.0002	0.0043	0.0273	0.0021	0.0021	0.0017	0.0025	0.0305	0.0019	0.0019	0.0264	0.0249	0.0005	0	6.534e-05	0	0.0260	0	0.0034	0.0002	0.0028	0.0305	0.047	0.40319	D	0.0	0.92824	D	.	.	.	.	.	.	0.000024	0.55875	D	0.072248	0.999709	0.48408	D	.	.	.	-0.93	0.75215	T	-2.01	0.46337	N	0.83	0.85238	-0.7182	0.59551	T	0.150	0.47752	T	10	0.009301335	0.00210	T	.	.	.	0.426	0.73372	.	.	0.649314703251	0.64640	0.4799576502131357	0.47915	0.0239078099333	0.02427	0.555704414845	0.46660	T	0.055797	0.30106	T	-0.187113	0.22683	T	-0.017867	0.69169	D	0.0335711694566184	0.02566	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.;.	.;.;.	2.744783	0.35961	20.1	0.99689563059916253	0.79842	0.77620	0.38185	D	AEFDGBI	0.347276	0.44180	N	0.232178871657312	0.52763	3.448597	0.235089474670716	0.51805	3.359969	0.756002068294349	0.23435	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	3.37	0.37692	1.320000	0.33272	0.323000	0.17205	0.599000	0.40250	0.998000	0.41325	0.995000	0.32472	0.976000	0.56436	0.0:0.1844:0.0:0.8156	7.467	0.26497	464	0.78488	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	918.83	92	chr9	20923697	.	C	G	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.988;DP=264;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.138;SOR=0.793	GT:AD:DP:GQ:PL	0/1:52,40:92:99:929,0,1357	5	0	1	0
chr9	21077768	21077768	G	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.C102G:p.S34R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00641865448437	0.0003	0.000998403	0.0008	0	8.754e-05	0.0001	0.0002	0.0004	0.0022	0.0037	0.0001229	19	154602	rs139262191	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0038	0.0037	2.989e-05	0.0003	0.0012	2.52e-05	0.0001	0.0014	0.0002	0.0008	0.0042	0.0004	0.0004	0.0002	0.0006	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0002	0.0012	0	0	0.0034	0.0004	0	0.0054	0.004	0.65419	D	0.322	0.19016	T	0.99	0.63424	D	0.885	0.62825	P	0.125549	0.18838	N	0.585786	0.999987	0.18198	N	1.625	0.41611	L	2.26	0.17596	T	-2.72	0.57920	D	0.507	0.53884	-1.0818	0.07003	T	0.067	0.27434	T	10	0.011768788	0.00256	T	0.006419	0.16899	T	0.178	0.44724	0.71	0.84601	0.618380283371	0.61529	0.5497210084814975	0.54898	0.0310260877546	0.03212	0.33335223794	0.15439	T	0.124785	0.45005	T	-0.455132	0.01053	T	-0.428648	0.30089	T	0.0727125078825543	0.09027	T	0.522848	0.17081	T	0.69327134	0.77689	0.5606023	0.74577	0.69327134	0.77691	0.5606023	0.74578	-3.713	0.19510	T	.	.	0.392	0.59103	A	.	.	2.124693	0.27044	17.33	0.99166651550720797	0.54269	0.15375	0.18881	N	AEFGBI	0.059832	0.11329	N	-0.327488970590743	0.28107	1.547628	-0.485264577639745	0.22559	1.225869	0.993551061809221	0.33262	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	3.57	0.40014	1.775000	0.38213	.	.	-0.113000	0.14837	0.358000	0.25825	0.000000	0.08366	0.003000	0.05239	0.0805:0.0:0.7641:0.1554	8.210	0.30636	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1362.83	106	chr9	21077768	.	G	C	1362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=289;ExcessHet=0;FS=3.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.643;SOR=1.064	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1373,0,1666	5	0	1	0
chr9	21166078	21166078	T	C	exonic	IFNA21	.	nonsynonymous SNV	IFNA21:NM_002175:exon1:c.A535G:p.K179E	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0006	0.0389377	0.0194	0.0013	0.0336	0.0997	0.0030	0.0007	0.0088	0.0616	0.0174965	2705	154602	rs3750478	0.0081	0.0081	0.0069	0.0095	0.1119	0.0080	0.0080	0.1092	0.1081	0.0009	0.0282	0.0005	0.1119	0.0033	0.0023	0.0003	0.0107	0.0585	0.0082	0.0082	0.0069	0.0095	0.1007	0.0078	0.0077	0.0936	0.0908	0.0016	0	0.0166	0.0003	0.1007	0.0027	0	0.0005	0.0038	0.0698	0.002	0.72154	D	0.286	0.21277	T	0.0	0.02946	B	0.0	0.01387	B	0.317618	0.04054	N	1.441390	1	0.08975	N	-0.975	0.01213	N	4.0	0.03239	T	-0.29	0.11728	N	0.014	0.00160	-0.9315	0.43918	T	0.000	0.00114	T	10	0.0022858083	0.00034	T	.	.	.	0.028	0.06331	.	.	.	.	0.04709050679141975	0.04652	0.0177436046835	0.01731	0.253964871168	0.04198	T	0.001715	0.01139	T	-0.728876	0.00024	T	-0.701625	0.05737	T	0.00338918853778009	0.00036	T	0.059594	0.00430	T	0.21095918	0.43407	0.08936213	0.20891	0.21095918	0.43406	0.08936213	0.20890	-4.366	0.29092	T	.	.	0.085	0.10304	B	.	.	1.162996	0.15522	11.91	0.90269641792041966	0.19539	0.00896	0.03516	N	AEFI	0.027205	0.02183	N	-1.09663075325377	0.06705	0.3094091	-1.10826869148338	0.07541	0.3672309	2.98245558826929E-4	0.06406	0.603402	0.35316	0	0.573888	0.26702	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	4.02	0.205	0.14481	0.003000	0.12984	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.372:0.2036:0.4244	3.704	0.07925	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.026515	0.08333	2273.83	187	chr9	21166078	.	T	C	2273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.09;DP=373;ExcessHet=0;FS=4.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.079;SOR=1	GT:AD:DP:GQ:PL	0/1:102,85:187:99:2284,0,2852	5	0	1	0
chr9	27016920	27016920	C	A	exonic	IFT74	.	nonsynonymous SNV	IFT74:NM_001099222:exon11:c.C803A:p.S268Y,IFT74:NM_001099223:exon11:c.C803A:p.S268Y,IFT74:NM_001099224:exon11:c.C803A:p.S268Y,IFT74:NM_001349928:exon11:c.C803A:p.S268Y,IFT74:NM_025103:exon11:c.C803A:p.S268Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0747286630858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.884e-07	1.368e-06	1.37e-06	0	9.025e-07	0	0	.	.	0	0	0	0	0	0	9.025e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.07	0.63738	T	-4.79	0.81675	D	0.96	0.96984	-0.1265	0.79483	T	0.452	0.78585	T	10	0.8336408	0.82522	D	0.074729	0.72114	D	0.398	0.71242	0.221	0.14371	0.771526343225	0.76942	0.5149603423126629	0.51419	0.106778675347	0.12062	0.610529780388	0.54391	T	0.275715	0.64826	T	0.336994	0.85634	D	0.246292	0.85446	D	0.992374360561371	0.82838	D	0.949805	0.80758	D	0.85307723	0.87564	0.81552273	0.89252	0.85307723	0.87565	0.81552273	0.89253	-9.475	0.73882	D	.	.	0.329	0.56566	B	.;.;.;.	.;.;.;.	4.404471	0.68085	25.2	0.99540185095173594	0.70461	0.95852	0.66430	D	AEFBI	0.652607	0.62594	D	0.827057085977166	0.87766	9.333156	0.811528285891136	0.90585	10.47386	0.999989766467411	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.512000	0.73648	4.836000	0.45242	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.613	0.91248	535	0.73288	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	236.83	11	chr9	27016920	.	C	A	236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.248;DP=126;ExcessHet=0;FS=4.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=1.29;SOR=2.833	GT:AD:DP:GQ:PL	0/1:4,7:11:99:247,0,132	5	0	1	0
chr9	35906602	35906604	CCC	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.315_317del:p.P106del	.	853	647	8	0	14	22	0.00614439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2007	.	0.0164	0.0144	0.0108	0.0047	0.0037	0.0154	0.0288	0.0396	0.0048706	753	154602	rs565823201	0.0048	0.0064	0.0044	0.0051	0.0185	0.0047	0.0046	0.0177	0.0173	0.0060	0.0034	0.0085	0.0032	0.0002	0.0161	0.0038	0.0052	0.0185	0.0078	0.0081	0.0080	0.0077	0.0519	0.0072	0.0069	0.0409	0.0369	0.0102	0	0.0076	0.0201	0.0111	0.0013	0.0079	0.0044	0.0137	0.0519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1311.8	37	chr9	35906601	.	ACCC	A	1311.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=197;ExcessHet=0;FS=9.578;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.17;ReadPosRankSum=0.912;SOR=2.409	GT:AD:DP:GQ:PL	0/1:5,32:37:99:1322,0,113	5	0	1	0
chr9	35906603	35906603	C	0	exonic	HRCT1	.	.	.	.	865	603	28	6	20	60	0.0321027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	193.03	37	chr9	35906603	.	C	*	193.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.126;DP=188;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=3.07;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,32:37:21:0|1:35906603_C_*:1420,0,21:35906603	5	0	1	0
chr9	35906604	35906604	C	0	exonic	HRCT1	.	.	.	.	919	482	25	5	91	126	0.035035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	865.29	37	chr9	35906604	.	C	*	865.29	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.126;DP=187;ExcessHet=4.1913;FS=1.75;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.45;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,32:37:18:0|1:35906603_C_*:1458,0,18:35906603	4	0	1	1
chr9	42188920	42188920	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3218A:p.A1073E	.	532	986	4	0	0	4	0.00202429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0396984975134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs553157776	0.0011	0.0011	0.0010	0.0011	0.0035	0.0010	0.0010	0.0032	0.0030	0.0002	0.0004	0	0	0	0.0025	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0033	0.0007	0.0007	0.0020	0.0016	0.0001	0	0.0007	0	0.0002	0	0	0.0013	0.0016	0.0033	0.056	0.38185	T	0.006	0.70582	D	.	.	.	.	.	.	0.166133	0.03075	N	1.768180	1	0.08975	N	.	.	.	3.73	0.03982	T	-2.12	0.48184	N	0.124	0.11626	-0.9646	0.38290	T	0.009	0.03011	T	10	0.038933992	0.02346	T	0.002343	0.04535	T	.	.	.	.	0.0138822411134	0.00435	0.154372607781962	0.15358	.	.	0.345601379871	0.17273	T	0.00223	0.01633	T	-0.308175	0.07909	T	-0.680448	0.06956	T	0.325911462306976	0.26060	T	0.352565	0.07917	T	0.12655447	0.29639	0.16716525	0.38581	0.12655447	0.29638	0.16716525	0.38580	-2.759	0.07812	T	.	.	0.148	0.32804	B	.	.	0.803135	0.11738	8.315	0.9656234791522339	0.30265	0.00443	0.02158	N	AEFI	0.029990	0.02933	N	-1.29893783815269	0.03689	0.1652296	-1.45170748048928	0.02755	0.127279	1.42478912111353E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-4.12	0.03650	-1.253000	0.02987	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.3059:0.3354:0.3587	4.134	0.09630	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	.	.	.	.	.	.	.	.	0.08333	2181.83	255	chr9	42188920	.	C	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.223;DP=449;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.083;MQ=48.85;MQRankSum=-1.727;QD=8.56;ReadPosRankSum=-0.413;SOR=0.814	GT:AD:DP:GQ:PL	0/1:166,89:255:99:2192,0,4916	5	0	1	0
chr9	42189384	42189384	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3682T:p.V1228L	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0403867784699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202011482	0.0011	0.0011	0.0010	0.0012	0.0035	0.0010	0.0010	0.0032	0.0031	0.0002	0.0004	0	0	0	0.0024	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0034	0.0008	0.0007	0.0021	0.0017	0.0001	0	0.0008	0	0.0002	0	0	0.0013	0.0021	0.0034	0.38	0.11191	T	0.526	0.10245	T	.	.	.	.	.	.	0.056137	0.02081	N	2.360930	1	0.08975	N	.	.	.	3.87	0.03597	T	-0.49	0.15578	N	0.026	0.00527	-0.9592	0.39330	T	0.010	0.03673	T	10	0.019815505	0.00447	T	0.001056	0.01191	T	.	.	.	.	0.0401082797425	0.02173	0.0145433691601484	0.01411	.	.	0.370967447758	0.20970	T	0.001185	0.00684	T	-0.415512	0.01828	T	-0.834631	0.01183	T	0.0512768542615498	0.05722	T	0.475152	0.14192	T	0.029822357	0.02540	0.0264825	0.00740	0.029822357	0.02540	0.0264825	0.00740	-3.541	0.17010	T	.	.	0.172	0.37839	B	.	.	-0.824000	0.01061	0.046	0.87571617011690062	0.17323	0.00062	0.00453	N	AEFI	0.017786	0.00491	N	-1.43502866729811	0.02337	0.1030748	-1.56008313653875	0.01907	0.08699791	0.00131151494683756	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.39	0.02457	-0.740000	0.04966	-20.000000	0.00162	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.2389:0.0:0.4794:0.2817	5.100	0.14089	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	.	.	.	.	.	.	.	.	0.08333	2909.83	464	chr9	42189384	.	G	T	2909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.888;DP=1308;ExcessHet=0;FS=1.214;MLEAC=1;MLEAF=0.083;MQ=55.97;MQRankSum=0.942;QD=6.27;ReadPosRankSum=0.016;SOR=0.553	GT:AD:DP:GQ:PL	0/1:325,139:464:99:2920,0,9515	5	0	1	0
chr9	69230107	69230107	A	C	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon11:c.A1558C:p.K520Q,TJP2:NM_001170416:exon11:c.A1639C:p.K547Q,TJP2:NM_001369872:exon11:c.A1546C:p.K516Q,TJP2:NM_001369873:exon11:c.A1546C:p.K516Q,TJP2:NM_001369874:exon11:c.A1558C:p.K520Q,TJP2:NM_001369875:exon11:c.A1558C:p.K520Q,TJP2:NM_004817:exon11:c.A1546C:p.K516Q,TJP2:NM_201629:exon11:c.A1546C:p.K516Q,TJP2:NM_001170414:exon12:c.A1477C:p.K493Q,TJP2:NM_001369870:exon12:c.A1471C:p.K491Q,TJP2:NM_001369871:exon13:c.A1477C:p.K493Q	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00969428803695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.04757	T	0.51	0.10821	T	0.119	0.26641	B	0.062	0.26930	B	0.000674	0.42516	N	0.244121	0.614316	0.32649	D	0.87	0.21467	L	1.47	0.31987	T	-1.26	0.33197	N	0.232	0.30461	-1.0542	0.13251	T	0.038	0.16333	T	10	0.14175966	0.26931	T	0.009694	0.25313	T	0.046	0.12618	0.526	0.63115	0.633304003171	0.63030	0.21701237517486804	0.21617	0.209477625729	0.23420	0.431200325489	0.29372	T	0.164056	0.50936	T	-0.197587	0.21152	T	-0.521597	0.20132	T	0.59712141752243	0.36286	D	0.759324	0.41060	T	0.12491417	0.29296	0.10408969	0.24991	0.12491417	0.29296	0.10408969	0.24990	-5.872	0.49884	T	0.0571888489087696	0.01374	0.085	0.14979	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.249781	0.28733	17.90	0.98452170614766532	0.41631	0.90575	0.51865	D	AEFBI	0.266234	0.38319	N	-0.381211125832276	0.26138	1.424277	-0.191598164296261	0.31844	1.80601	0.997863553918304	0.36124	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.46	0.38718	2.550000	0.45472	6.953000	0.57030	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7491:0.2508:0.0:0.0	13.188	0.59118	988	0.01987	.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1396.83	91	chr9	69230107	.	A	C	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.375;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.032;SOR=0.624	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1407,0,1030	5	0	1	0
chr9	75069908	75069908	G	C	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon5:c.C304G:p.L102V,NMRK1:NM_017881:exon5:c.C304G:p.L102V,NMRK1:NM_001330678:exon6:c.C316G:p.L106V,NMRK1:NM_001330679:exon6:c.C316G:p.L106V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0397904991121	0.0015	0.000798722	0.0014	0.0002	0.0003	0	0.0014	0.0019	0.0011	0.0016	0.0014942	231	154602	rs146012983	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0017	0	0.0018	0.0010	0.0025	0.0015	0.0013	0.0014	0.0014	0.0014	0.0013	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0014	0.0023	0.0002	0.0010	0	0.0022	0.0014	0.0002	0.003	0.68238	D	0.074	0.42976	T	0.999	0.77913	D	0.996	0.84481	D	0.000008	0.62929	D	0.065086	0.994884	0.42456	D	2.835	0.82492	M	1.3	0.49068	T	-2.19	0.49352	N	0.511	0.54234	-0.5341	0.67386	T	0.284	0.65606	T	10	0.028863907	0.01015	T	0.03979	0.59008	D	0.216	0.50959	.	.	0.76554066581	0.76340	0.6875646154150812	0.68696	0.148953533345	0.16796	0.513455569744	0.40706	T	0.115187	0.43359	T	-0.376323	0.03286	T	-0.306799	0.44002	T	0.0430804988441211	0.04252	T	0.951205	0.82399	D	0.5969878	0.72529	0.44017994	0.67345	0.5969878	0.72530	0.44017994	0.67345	-6.462	0.68044	T	.	.	0.173	0.37858	B	.;.;.	.;.;.	4.568054	0.72040	25.8	0.99859105603442733	0.93729	0.96709	0.70521	D	AEFDBI	0.579089	0.58003	D	0.568070290642305	0.71188	5.613191	0.529947210321923	0.70015	5.443367	0.998973462231504	0.38110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.76	4.84	0.62125	3.601000	0.53812	8.524000	0.77433	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0733:0.0:0.7793:0.1475	9.153	0.36137	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	493.83	39	chr9	75069908	.	G	C	493.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.121;DP=216;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.773;SOR=0.457	GT:AD:DP:GQ:PL	0/1:20,19:39:99:504,0,545	5	0	1	0
chr9	81990831	81990831	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C361T:p.R121C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00209981291959	.	.	4.409e-05	0	0	0.0002	0	1.584e-05	0	0.0001	3.23e-05	5	154602	rs775546728	5.474e-06	5.472e-06	4.084e-06	6.877e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.001	0.83351	D	1.0	0.90584	D	0.941	0.67658	D	0.275139	0.15052	N	0.558816	1	0.08975	N	2.325	0.66631	M	2.65	0.12676	T	-4.72	0.79998	D	0.241	0.27197	-1.1271	0.01926	T	0.063	0.26029	T	10	0.24486488	0.41725	T	0.002	0.03882	T	0.139	0.37390	0.523	0.62668	0.437207349437	0.43342	0.03413471756833938	0.03361	.	.	0.549443304539	0.45780	T	0.095768	0.39688	T	-0.324222	0.06558	T	-0.466831	0.25858	T	0.757517218589783	0.43710	D	0.733627	0.34942	T	0.14657372	0.33547	0.14102134	0.33596	0.14657372	0.33547	0.14102134	0.33595	-5.658	0.43318	T	.	.	0.148	0.32804	B	.	.	2.407743	0.30945	18.59	0.99825993781130451	0.90852	0.26104	0.22896	N	AEFI	0.070880	0.14088	N	0.0268339367942836	0.43078	2.607844	-0.174540813543665	0.32477	1.84801	4.20410032217277E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	2.89	0.32713	2.406000	0.44210	-1.833000	0.04643	0.465000	0.21702	0.114000	0.23067	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	9.537	0.38391	922	0.19044	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2758.83	222	chr9	81990831	.	C	T	2758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.53;DP=425;ExcessHet=0;FS=8.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.477;SOR=0.853	GT:AD:DP:GQ:PL	0/1:124,98:222:99:2769,0,3086	5	0	1	0
chr9	83062744	83062744	C	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon1:c.G124C:p.V42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0431438828533	.	.	0.0001	0	0	0	0	7.297e-05	0	0.0003	2.59e-05	4	154602	rs748902963	1.059e-05	1.026e-05	8.405e-06	1.282e-05	0.0001	6.36e-06	5.04e-06	7.477e-05	5.739e-05	0	0	0	0	0	0	3.644e-06	0	0.0001	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.293	0.54683	T	0.174	0.34596	T	0.998	0.73220	D	0.946	0.68276	D	0.000078	0.52346	D	0.075179	0.999943	0.51968	D	0.08	0.08321	N	2.02	0.21119	T	0.01	0.19933	N	0.274	0.36989	-1.1020	0.03857	T	0.054	0.22997	T	10	0.18386328	0.33734	T	0.043144	0.60833	D	0.176	0.44373	0.163	0.06730	0.231231049324	0.22751	0.5515790653064594	0.55083	0.668253342316	0.59282	0.911261260509	0.97588	D	0.030573	0.21640	T	-0.319056	0.06975	T	-0.416643	0.31460	T	0.285175681114197	0.24388	T	0.809419	0.47040	T	0.30875304	0.53678	0.14436813	0.34277	0.30875304	0.53678	0.14436813	0.34276	-3.713	0.19510	T	.	.	0.383	0.65279	A	.;.	.;.	4.282037	0.65240	24.8	0.99371138102687151	0.61455	0.92383	0.55584	D	AEFDBHCI	0.735845	0.68153	D	0.0306291502414603	0.43252	2.621812	0.0257704813580884	0.40914	2.449509	0.999999999999876	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.2	3.3	0.36912	2.912000	0.48479	3.515000	0.38865	0.464000	0.21668	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.9126:0.0:0.0874	11.763	0.51183	953	0.10115	EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1132.83	89	chr9	83062744	.	C	G	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.028;DP=266;ExcessHet=0;FS=4.071;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.743;SOR=0.367	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1143,0,1109	5	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	.	.	.	.	.	.	.	.	0.1667	52.06	46	chr9	86018822	.	G	C	52.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.44;DP=301;ExcessHet=0.4139;FS=173.004;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.12;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,11:46:25:0|1:86018822_G_C:25,0,788:86018822	4	0	2	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:169,115:310:99:625,0,2536	0	0	6	0
chr9	98790160	98790160	T	C	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon2:c.A806G:p.K269R	Nephronophthisis 16, Autosomal recessive	425	1088	8	1	0	10	0.00457457	.	.	.	564381	Nephronophthisis_16|not_provided	MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.012276926787	0.0004	0.000399361	0.0005	0	8.679e-05	0	0	0.0005	0	0.0017	0.0004398	68	154602	rs200902480	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0013	0.0012	0.0002	0.0001	3.899e-05	0	0	0.0019	0.0003	0.0003	0.0015	0.0003	0.0003	0.0004	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0	0	6.531e-05	0	0	0	0	0.0006	0.0005	0.0015	0.479	0.08261	T	0.267	0.22561	T	0.0	0.02946	B	0.003	0.08700	B	0.000034	0.55875	N	0.187667	0.680317	0.81001	D	0.85	0.21244	L	0.61	0.53516	T	-0.86	0.23372	N	0.192	0.21056	-1.0118	0.26353	T	0.069	0.28180	T	10	0.014547795	0.00306	T	0.012277	0.30711	T	0.043	0.11576	.	.	0.431931272081	0.42809	0.45630968555688123	0.45548	0.0822081401259	0.09269	0.384411633015	0.22880	T	0.011363	0.10151	T	-0.514835	0.00471	T	-0.54768	0.17549	T	0.00623534983553749	0.00069	T	0.630337	0.24523	T	0.046423115	0.07767	0.056328055	0.10045	0.049909208	0.08935	0.051545247	0.08317	-5.486	0.41737	T	.	.	0.065	0.01986	B	.	.	1.903254	0.24170	16.30	0.99241337673755348	0.56565	0.67075	0.33302	D	AEFDBHCI	0.205721	0.33204	N	-0.44435713615956	0.23931	1.288656	-0.262823560615275	0.29333	1.642562	0.999999911595728	0.74766	0.706548	0.73137	0	0.694456	0.67091	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.48	3.16	0.35406	1.964000	0.40085	3.364000	0.37882	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.937000	0.47636	0.0:0.1676:0.0:0.8324	8.029	0.29615	792	0.45996	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	615.83	65	chr9	98790160	.	T	C	615.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.112;DP=234;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-1.479;SOR=0.972	GT:AD:DP:GQ:PL	0/1:38,27:65:99:626,0,1031	5	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	.	.	.	.	.	.	.	.	0.08333	131.92	92	chr9	99218703	.	C	T	131.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.574;DP=476;ExcessHet=0;FS=276.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.31;SOR=8.662	GT:AD:DP:GQ:PL	0/1:65,27:92:99:142,0,1461	5	0	1	0
chr9	103003226	103003226	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon3:c.G143A:p.R48K	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00595736256861	7.7e-05	.	0.0002	0	0.0007	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs201912645	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	2.988e-05	0.0005	0.0009	0	1.873e-05	0.0003	0.0003	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	2.412e-05	0	0.0004	0.0009	0	0	0	0.0003	0.0005	0.0002	0.152	0.24468	T	0.419	0.14158	T	1.0	0.90584	D	0.996	0.84481	D	0.000243	0.46924	D	0.000000	0.740306	0.29741	N	1.835	0.48228	L	2.07	0.20387	T	-1.41	0.34795	N	0.373	0.51940	-1.0294	0.20649	T	0.107	0.39027	T	10	0.13712871	0.26087	T	0.005957	0.15549	T	0.115	0.32236	.	.	0.605825054984	0.60266	0.05628943387359948	0.05569	0.00706923751488	0.00622	0.478097707033	0.35795	T	0.005053	0.04483	T	-0.279364	0.10735	T	-0.322908	0.42255	T	0.177995219826698	0.19108	T	0.508249	0.16142	T	0.18651861	0.40063	0.18016365	0.40797	0.18651861	0.40063	0.18016365	0.40796	-3.326	0.14074	T	.	.	0.648	0.70868	P	.;.;.	.;.;.	3.976436	0.58430	24.0	0.99498879810145446	0.67916	0.87595	0.47186	D	AEFI	0.485665	0.52516	N	0.504790424672532	0.67373	5.072929	0.448112578011314	0.64596	4.718375	0.0459338290494994	0.14671	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	4.129000	0.57713	8.748000	0.78215	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.240000	0.23001	0.0:0.0:1.0:0.0	13.848	0.62978	505	0.75648	Cylicin, N-terminal;Cylicin, N-terminal;Cylicin, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	918.83	76	chr9	103003226	.	G	A	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=250;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.421;SOR=0.937	GT:AD:DP:GQ:PL	0/1:38,38:76:99:929,0,963	5	0	1	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2273.83	163	chr9	104694802	.	T	G	2273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=613;ExcessHet=0;FS=1.935;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.947;QD=13.95;ReadPosRankSum=-0.225;SOR=0.849	GT:AD:DP:GQ:PL	0/1:87,76:163:99:2284,0,2572	5	0	1	0
chr9	113049860	113049860	G	T	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon2:c.C190A:p.L64M,ZFP37:NM_001282518:exon2:c.C148A:p.L50M,ZFP37:NM_003408:exon2:c.C145A:p.L49M	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00346212193981	0.0033	0.00199681	0.0027	0.0008	0.0024	0	0.0003	0.0040	0.0022	0.0010	0.0027749	429	154602	rs151180938	0.0031	0.0031	0.0031	0.0031	0.0039	0.0031	0.0030	0.0034	0.0033	0.0005	0.0039	0.0101	0	0.0010	0.0009	0.0034	0.0033	0.0009	0.0027	0.0027	0.0029	0.0024	0.0045	0.0025	0.0024	0.0037	0.0033	0.0009	0.0011	0.0045	0.0063	0	0.0007	0	0.0039	0.0047	0.0002	0.14	0.25664	T	0.028	0.55341	D	1.0	0.90584	D	0.979	0.74454	D	0.005547	0.32703	N	0.000000	0.967908	0.25826	N	2.625	0.76847	M	2.18	0.18875	T	-1.41	0.35399	N	0.435	0.47395	-0.9971	0.30728	T	0.110	0.39651	T	10	0.010571986	0.00235	T	0.003462	0.07817	T	0.157	0.40909	.	.	0.490352026379	0.48669	0.1874091817490938	0.18658	0.285506253658	0.30955	0.480363190174	0.36107	T	0.151043	0.49080	T	-0.440642	0.01282	T	-0.40505	0.32797	T	0.0162499840716559	0.00398	T	0.765423	0.39669	T	0.16633254	0.36962	0.12035875	0.29047	0.16633254	0.36962	0.12035875	0.29046	-5.105	0.49852	T	.	.	0.233	0.50110	B	.;.;.	.;.;.	3.119800	0.42115	21.5	0.99472347411839857	0.66419	0.89153	0.49448	D	AEFBI	0.121613	0.23636	N	0.275146120482601	0.54893	3.653846	0.13701974044793	0.46457	2.891467	0.00114036447588044	0.08261	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	3.99	2.15	0.26590	1.892000	0.39382	2.645000	0.33778	-0.118000	0.14412	0.985000	0.35982	0.997000	0.33255	0.441000	0.27694	0.2019:0.0:0.7981:0.0	8.219	0.30690	865	0.32612	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1424.83	136	chr9	113049860	.	G	T	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.44;DP=314;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.854;SOR=0.613	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1435,0,2044	5	0	1	0
chr9	131626264	131626264	G	A	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377936:exon9:c.C1213T:p.H405Y,RAPGEF1:NM_001377937:exon9:c.C1246T:p.H416Y,RAPGEF1:NM_001377938:exon9:c.C1246T:p.H416Y,RAPGEF1:NM_001304275:exon10:c.C1360T:p.H454Y,RAPGEF1:NM_001377935:exon10:c.C1360T:p.H454Y,RAPGEF1:NM_005312:exon10:c.C1309T:p.H437Y,RAPGEF1:NM_198679:exon10:c.C1363T:p.H455Y	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00932023708639	0.0015	0.000599042	0.0013	0.0002	0.0028	0	0.0005	0.0015	0.0045	0.0014	0.0013325	206	154602	rs113690899	0.0020	0.0020	0.0019	0.0020	0.0022	0.0019	0.0019	0.0021	0.0021	0.0001	0.0017	0.0027	5.038e-05	0.0006	0.0012	0.0022	0.0019	0.0013	0.0012	0.0012	0.0013	0.0011	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0008	0.0012	0.0002	0.0008	0	0.0020	0.0005	0.0015	0.057	0.41096	T	1.0	0.01155	T	0.01	0.17573	B	0.034	0.28220	B	0.906730	0.08581	N	0.963617	0.999832	0.20991	N	0.55	0.14455	N	1.83	0.24841	T	0.11	0.05706	N	0.21	0.28264	-0.9982	0.30423	T	0.040	0.17149	T	10	0.009190947	0.00208	T	0.00932	0.24459	T	0.094	0.27141	.	.	0.196089822672	0.19227	0.10695214700480138	0.10625	0.295307434607	0.31932	0.454106152058	0.32505	T	0.197233	0.55384	T	-0.59736	0.00151	T	-0.63577	0.09981	T	0.0253384779696571	0.01318	T	0.884911	0.60954	D	0.01952026	0.00484	0.050451882	0.07922	0.01952026	0.00484	0.050451882	0.07921	-3.379	0.14788	T	.	.	0.058	0.03162	B	.;.;.	.;.;.	1.343651	0.17504	13.20	0.97612226262115043	0.34915	0.42147	0.26814	N	AEFDGBHCI	0.026329	0.01958	N	-0.566613955815205	0.19965	1.049056	-0.430355145586459	0.24111	1.318535	0.999999989671413	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	4.8	3.67	0.41236	3.403000	0.52364	6.517000	0.55822	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.7471:0.0:0.0898:0.1631	4.858	0.12933	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	1139.83	66	chr9	131626264	.	G	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=238;ExcessHet=0;FS=3.419;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-0.457;SOR=1.052	GT:AD:DP:GQ:PL	0/1:27,39:66:99:1150,0,734	5	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid 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	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.3333	302.19	21	chr9	133208141	.	T	A	302.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.974;DP=78;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.5;MQ=54.88;MQRankSum=-2.722;QD=9.44;ReadPosRankSum=-0.036;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8:21:99:.:.:199,0,362:.	1	0	2	3
chr9	133539849	133539849	C	T	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon5:c.C388T:p.H130Y,ADAMTSL2:NM_014694:exon5:c.C388T:p.H130Y	Geleophysic dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3947880	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0104817292266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341624877	2.717e-05	2.599e-05	2.398e-05	3.044e-05	3.337e-05	2.02e-05	1.768e-05	2.442e-05	2.167e-05	0	0	0	2.798e-05	0	0	3.337e-05	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010773	0.29791	N	0.275476	0.958973	0.26204	N	.	.	.	0.6	0.53731	T	2.52	0.00300	N	0.269	0.30800	-0.9755	0.36015	T	0.040	0.17149	T	10	0.043015927	0.03107	T	0.010482	0.27066	T	0.076	0.22200	0.443	0.49975	0.215869574891	0.21205	0.7726570629859298	0.77215	0.494445016744	0.48007	0.392561912537	0.24030	T	0.010119	0.09163	T	-0.358403	0.04220	T	-0.548997	0.17422	T	0.0295857776468458	0.01926	T	0.734227	0.35027	T	0.029445525	0.02440	0.08165964	0.18576	0.029445525	0.02440	0.08165964	0.18576	-2.938	0.09528	T	.	.	0.046	0.00057	B	.;.;.	.;.;.	1.751346	0.22283	15.56	0.95310802100338221	0.26643	0.36203	0.25479	N	AEFDGBI	0.120325	0.23445	N	-1.13544280845486	0.06023	0.276175	-0.907630990425497	0.11913	0.6098513	0.999994163012238	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.535252	0.11790	0	0.63947	0.58350	0	.	.	5.46	0.618	0.16800	3.648000	0.54150	2.740000	0.34455	-0.780000	0.03343	1.000000	0.71638	0.998000	0.33993	0.914000	0.44937	0.0:0.1245:0.0:0.8755	10.859	0.46022	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	1	0	.	.	.	.	.	.	.	.	0.08333	520.83	63	chr9	133539849	.	C	T	520.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.907;DP=234;ExcessHet=0;FS=2.123;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.531;SOR=0.988	GT:AD:DP:GQ:PL	0/1:39,24:63:99:531,0,1012	5	0	1	0
chr9	133694305	133694305	C	A	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon15:c.G1874T:p.R625L,SARDH:NM_007101:exon15:c.G1874T:p.R625L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.523590250337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762509323	7.652e-05	7.593e-05	8.044e-05	7.25e-05	9.825e-05	6.462e-05	6.002e-05	8.283e-05	7.721e-05	0	0	0	0	0	0	9.825e-05	1.725e-05	0	1.973e-05	1.97e-05	3.856e-05	0	4.411e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.753	0.10278	T	0.222	0.34124	T	0.058	0.26866	B	0.071	0.35348	B	0.215962	0.16252	N	0.619696	0.999999	0.58761	D	2.745	0.80253	M	-1.21	0.78645	T	-1.35	0.43906	N	0.627	0.64563	-0.1651	0.78547	T	0.448	0.78336	T	10	0.86818635	0.86072	D	0.52359	0.95483	D	0.614	0.84932	.	.	0.870132832338	0.86887	0.840655373996095	0.84025	0.28758288876	0.31159	0.441653013229	0.30804	T	0.719024	0.96950	D	0.0563168	0.59150	T	-0.0515956	0.66914	D	0.867118656635284	0.51714	D	0.935306	0.80271	D	0.11691184	0.27569	0.08833644	0.20592	0.11691184	0.27569	0.08833644	0.20591	-11.668	0.83197	D	.	.	0.142	0.42448	B	.;.;.;.	.;.;.;.	2.479170	0.31965	18.90	0.99466611509872671	0.66102	0.97232	0.73472	D	AEFGBI	0.712065	0.66531	D	0.0553981528789633	0.44390	2.71405	0.148792304888316	0.47078	2.943502	0.999999999161287	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.55	4.55	0.55429	3.131000	0.50210	3.754000	0.39694	-0.306000	0.06133	1.000000	0.71638	0.999000	0.35428	0.340000	0.25432	0.0:1.0:0.0:0.0	14.012	0.64021	853	0.34956	Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-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	.	.	.	.	.	.	.	.	0.08333	1571.83	99	chr9	133694305	.	C	A	1571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.057;SOR=0.633	GT:AD:DP:GQ:PL	0/1:40,59:99:99:1582,0,875	5	0	1	0
chr9	135546230	135546230	C	T	exonic	OBP2A	.	nonsynonymous SNV	OBP2A:NM_001293189:exon1:c.C50T:p.S17F,OBP2A:NM_001293193:exon1:c.C50T:p.S17F,OBP2A:NM_014582:exon1:c.C50T:p.S17F	.	449	1044	25	4	0	33	0.0155587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0004	0.00678914	0.0100	0.0005	0.0016	0.0008	0.0031	0.0029	0.0048	0.0297	0.0002587	40	154602	rs146174738	0.0016	0.0016	0.0010	0.0021	0.0176	0.0015	0.0015	0.0168	0.0165	0.0001	0.0006	0	0	0.0003	0.0048	0.0005	0.0017	0.0176	0.0012	0.0012	0.0009	0.0014	0.0187	0.0010	0.0010	0.0155	0.0143	7.419e-05	0	0.0011	0	0.0002	0.0002	0.0068	0.0010	0	0.0187	0.01	0.91255	D	0.003	0.76473	D	0.99	0.63424	D	0.962	0.70672	D	0.111432	0.02643	N	2.009180	1	0.08975	N	1.1	0.28011	L	1.79	0.25509	T	-2.6	0.55983	D	0.111	0.18920	-1.0301	0.20422	T	0.099	0.36957	T	10	0.004365295	0.00089	T	.	.	.	0.038	0.09825	.	.	0.306695030598	0.30287	0.40449597559420153	0.40365	0.299712334591	0.32340	0.604844748974	0.53589	T	0.009529	0.08670	T	-0.57064	0.00219	T	-0.578181	0.14708	T	0.0303588336819061	0.02046	T	0.590441	0.21717	T	0.1545744	0.34980	0.054699108	0.09458	0.1545744	0.34979	0.054699108	0.09457	-7.445	0.57222	T	.	.	0.203	0.48188	B	.;.;.;.;.	.;.;.;.;.	0.978863	0.13562	10.09	0.99489188982084586	0.67347	0.01105	0.04049	N	AEFGBI	0.029942	0.02919	N	-0.678745835377235	0.16629	0.8488801	-0.872682251635143	0.12743	0.6572797	4.90916395702772E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.02	-0.0525	0.13152	0.093000	0.14925	-1.327000	0.05707	-0.926000	0.02173	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6617:0.0:0.3383	4.742	0.12396	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	1	0	0	0	0.005718	0.000000	0.004348	0.004545	0.000000	0.000000	0.008696	0.013158	0.08333	996.83	50	chr9	135546230	.	C	T	996.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.724;DP=183;ExcessHet=0;FS=3.197;MLEAC=1;MLEAF=0.083;MQ=37.77;MQRankSum=2.35;QD=19.94;ReadPosRankSum=1.67;SOR=0.306	GT:AD:DP:GQ:PL	0/1:9,41:50:99:1007,0,158	5	0	1	0
chr9	136049893	136049893	G	A	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.C629T:p.A210V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.145654537314	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192955264	4.353e-05	6.52e-05	4.887e-05	3.882e-05	0.0002	2.782e-05	2.314e-05	8.478e-05	6.223e-05	0	0.0001	0	0.0001	0	0	1.934e-05	4.028e-05	0.0002	1.976e-05	1.97e-05	1.287e-05	2.697e-05	6.563e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.563e-05	0	0	0	0	2.946e-05	0	0	0.112	0.28900	T	0.327	0.18732	T	0.001	0.07471	B	0.0	0.01387	B	0.092878	0.20252	N	0.486257	1	0.08975	N	1.245	0.31408	L	-0.09	0.64086	T	-1.03	0.27052	N	0.057	0.02861	-1.0386	0.17740	T	0.116	0.41120	T	10	0.118282616	0.22359	T	0.145655	0.82783	D	0.049	0.13647	0.361	0.36548	0.226586394389	0.22295	0.41644530876353103	0.41560	0.673653863298	0.59600	0.773065686226	0.77883	T	0.194953	0.55088	T	-0.216408	0.18486	T	-0.548632	0.17457	T	0.0710176154971123	0.08793	T	0.516748	0.16663	T	0.028565481	0.02214	0.04267276	0.05138	0.028565481	0.02214	0.04267276	0.05137	-4.31	0.28316	T	.	.	0.081	0.09045	B	.;.	.;.	1.329065	0.17341	13.11	0.97969415399232562	0.37239	0.08916	0.14771	N	AEFI	0.050280	0.08772	N	-1.09045364456543	0.06817	0.3149528	-1.08328390458016	0.08029	0.3930341	0.176936816087325	0.17817	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.06	2.14	0.26518	0.704000	0.25336	2.580000	0.33410	-0.154000	0.11915	0.012000	0.18695	0.985000	0.30750	0.041000	0.14368	0.2369:0.0:0.7631:0.0	6.998	0.23970	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	926.83	77	chr9	136049893	.	G	A	926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.096;DP=174;ExcessHet=0;FS=1.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.448;SOR=0.77	GT:AD:DP:GQ:PL	0/1:38,39:77:99:937,0,885	5	0	1	0
chr9	136363665	136363665	T	-	exonic	DNLZ	.	frameshift deletion	DNLZ:NM_001080849:exon1:c.50delA:p.Q17Rfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	158.81	11	chr9	136363664	.	CT	C	158.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=79;ExcessHet=0;FS=6.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.437;SOR=0.636	GT:AD:DP:GQ:PL	0/1:6,5:11:99:169,0,209	5	0	1	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-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	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.08333	891.83	73	chr9	137215195	.	C	T	891.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.611;DP=270;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.188;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,34:73:99:902,0,1032	5	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	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:69,36:105:99:177,0,1174	1	0	5	0
chr10	5883056	5883056	C	G	exonic	ANKRD16	.	nonsynonymous SNV	ANKRD16:NM_001009941:exon5:c.G799C:p.D267H,ANKRD16:NM_001009943:exon5:c.G799C:p.D267H,ANKRD16:NM_019046:exon5:c.G799C:p.D267H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0823350645488	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.069e-05	3.23e-05	5	154602	rs767638305	7.046e-05	7.046e-05	7.624e-05	6.463e-05	0.0003	5.914e-05	5.523e-05	7.222e-05	6.712e-05	0	2.236e-05	0	0	0	0.0003	8.633e-05	1.656e-05	3.478e-05	4.598e-05	4.596e-05	5.136e-05	4.034e-05	7.347e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	2.412e-05	0	6.54e-05	0	0	0	0	7.347e-05	0	0	0.069	0.40319	T	0.004	0.74150	D	0.973	0.57599	D	0.886	0.62898	P	0.000000	0.84330	D	0.049891	0.995354	0.42654	D	1.185	0.30054	L	2.33	0.64264	T	-2.56	0.55339	D	0.306	0.41754	-0.4582	0.70128	T	0.307	0.67740	T	10	0.28618282	0.46201	T	0.082335	0.73877	D	0.169	0.43123	0.45	0.51121	0.709502071467	0.70696	0.49665571805162007	0.49586	0.789225596	0.65689	0.354228407145	0.18543	T	0.006023	0.05459	T	-0.172395	0.24873	T	-0.293728	0.45383	T	0.348710805177689	0.26968	T	0.944506	0.81134	D	0.17418323	0.38208	0.1214992	0.29314	0.17418323	0.38207	0.1214992	0.29313	-6.765	0.52298	T	.	.	0.249	0.51575	B	.;.;.	.;.;.	3.103690	0.41837	21.4	0.99272522571961697	0.57593	0.96477	0.69334	D	AEFBI	0.402771	0.47673	N	0.237441720278377	0.53021	3.47302	0.152900830927176	0.47295	2.961961	0.999964850797757	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	2.398000	0.44140	2.173000	0.31069	0.599000	0.40250	0.986000	0.36153	0.975000	0.29991	0.021000	0.11733	0.0:0.7911:0.0:0.2089	7.371	0.25973	819	0.41190	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1306.83	125	chr10	5883056	.	C	G	1306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.934;DP=332;ExcessHet=0;FS=2.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=1.2;SOR=0.921	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1317,0,1881	5	0	1	0
chr10	7738692	7738692	G	A	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon16:c.G2029A:p.V677M	.	431	1088	3	0	0	3	0.00137678	.	.	.	2372978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00667086922346	.	0.000199681	0.0001	0	0	0	0	7.504e-05	0	0.0005	0.0001035	16	154602	rs188916946	9.307e-05	9.303e-05	8.034e-05	0.0001	0.0005	8.028e-05	7.521e-05	0.0003	0.0003	0	0	0	5.053e-05	0	0	8.455e-05	1.656e-05	0.0005	5.255e-05	5.249e-05	6.427e-05	4.03e-05	0.0004	2.556e-05	1.83e-05	7.307e-05	3.035e-05	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0004	0.24	0.17881	T	0.335	0.18617	T	0.003	0.11197	B	0.001	0.04355	B	0.000002	0.00162	N	5.516080	1	0.08975	N	0	0.06538	N	4.86	0.01459	T	-0.42	0.14193	N	0.047	0.01911	-0.9144	0.46298	T	0.003	0.00994	T	10	0.017674953	0.00379	T	0.006671	0.17614	T	0.037	0.09474	.	.	0.115124310173	0.11017	0.33675470094229404	0.33588	0.0848104239452	0.09583	0.268978118896	0.06007	T	0.016589	0.13686	T	-0.587843	0.00173	T	-0.752171	0.03402	T	0.0327579505849031	0.02432	T	0.364964	0.08484	T	0.029245585	0.02388	0.04870489	0.07290	0.029245585	0.02388	0.04870489	0.07289	-4.086	0.25083	T	.	.	0.075	0.06341	B	.;.	.;.	0.036971	0.04542	1.234	0.46173277324031675	0.03678	0.01731	0.05474	N	AEFDBI	0.546354	0.56049	D	-1.64354856078159	0.01063	0.04610888	-1.69420268207419	0.01163	0.05233145	0.890478731420678	0.25837	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.23	-7.84	0.01061	-0.282000	0.08478	-0.225000	0.10728	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3974:0.0894:0.5132:0.0	9.691	0.39293	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	.	.	.	.	.	.	.	.	0.08333	2514.83	148	chr10	7738692	.	G	A	2514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.52;DP=332;ExcessHet=0;FS=8.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-0.269;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,68:148:99:0|1:7738683_C_G:2525,0,3134:7738683	5	0	1	0
chr10	15834613	15834613	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon6:c.A61G:p.I21V,MINDY3:NM_024948:exon7:c.A580G:p.I194V	.	463	1058	1	0	0	1	0.000472367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00911663213332	0.0002	0.00159744	0.0008	0.0002	0.0011	0	0	0.0004	0	0.0032	0.0007438	115	154602	rs187883529	0.0004	0.0004	0.0003	0.0005	0.0021	0.0004	0.0004	0.0019	0.0018	3.006e-05	0.0013	0.0033	0	0	0.0020	0.0002	0.0010	0.0021	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0022	0.0020	0	0	0.0029	0.0023	0	0	0	0.0002	0.0005	0.0010	0.351	0.18823	T	0.395	0.15255	T	0.14	0.27540	B	0.097	0.30390	B	0.000000	0.84330	D	0.044245	0.999959	0.52396	D	.	.	.	1.63	0.28002	T	-0.52	0.16187	N	0.444	0.48227	-1.0864	0.06155	T	0.062	0.25958	T	10	0.009854585	0.00221	T	0.009117	0.23988	T	0.089	0.25827	.	.	0.102598925029	0.09809	0.3026063362788015	0.30173	0.265519276337	0.29109	0.593343734741	0.51965	T	0.037416	0.24468	T	-0.419719	0.01717	T	-0.380911	0.35616	T	0.0522342049505362	0.05887	T	0.941406	0.79334	D	0.10227875	0.24165	0.09362834	0.22123	0.10227875	0.24165	0.09362834	0.22123	-4.21	0.26896	T	.	.	0.079	0.11027	B	.;.;.	.;.;.	3.084859	0.41513	21.4	0.99020154169823271	0.50569	0.97917	0.78108	D	AEFBI	0.861726	0.77985	D	0.0212977709819951	0.42824	2.587589	0.212385502051825	0.50535	3.244441	0.998879834633068	0.37868	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.143000	0.76935	5.123000	0.47601	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.624	0.76583	834	0.38640	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.002924	0.000000	0.008621	0.003067	0.003788	0.08333	267.83	51	chr10	15834613	.	T	C	267.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=224;ExcessHet=0;FS=1.282;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-1.151;SOR=1.061	GT:AD:DP:GQ:PL	0/1:37,14:51:99:278,0,1014	5	0	1	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H	.	426	1092	4	0	0	4	0.00182815	.	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.023392	0.000000	0.000000	0.000000	0.000000	0.08333	1135.83	76	chr10	24543815	.	A	C	1135.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.754;DP=346;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.2;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1146,0,1045	5	0	1	0
chr10	44984908	44984908	G	A	exonic	RASSF4	.	nonsynonymous SNV	RASSF4:NM_032023:exon6:c.G469A:p.G157S	.	421	1088	11	2	0	15	0.00684619	.	.	.	712370	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00573114882904	0.0019	0.00159744	0.0030	0.0005	0.0011	0	0.0023	0.0042	0.0022	0.0033	0.002956	457	154602	rs140069760	0.0029	0.0029	0.0028	0.0029	0.0033	0.0028	0.0027	0.0030	0.0030	0.0004	0.0014	0.0019	0	0.0019	0.0024	0.0031	0.0026	0.0033	0.0021	0.0021	0.0023	0.0020	0.0035	0.0020	0.0019	0.0029	0.0028	0.0004	0	0.0031	0.0009	0	0.0014	0	0.0033	0.0028	0.0035	1.0	0.00964	T	0.999	0.02314	T	0.124	0.26825	B	0.019	0.18783	B	0.018290	0.27517	N	0.427611	1	0.08975	N	1.315	0.32790	L	0.87	0.46412	T	0.1	0.05810	N	0.155	0.16028	-1.0062	0.28095	T	0.067	0.27640	T	10	0.0036033094	0.00065	T	0.005731	0.14862	T	0.072	0.21020	.	.	0.374255764437	0.37033	0.26335478429010306	0.26248	0.125134286109	0.14108	0.33386734128	0.15517	T	6.2E-4	0.00264	T	-0.617337	0.00114	T	-0.660376	0.08241	T	0.00436487203907743	0.00047	T	0.718628	0.33152	T	0.022302946	0.00884	0.041942805	0.04884	0.022302946	0.00884	0.041942805	0.04884	-2.512	0.05864	T	.	.	0.071	0.03887	B	.	.	-0.049492	0.03954	0.884	0.52119848567604588	0.04688	0.21799	0.21528	N	AEFDBCI	0.129690	0.24796	N	-0.481832180092032	0.22676	1.212505	-0.560065600015734	0.20539	1.107025	0.999943485208637	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620204	0.46100	0	.	.	5.71	0.659	0.17033	0.230000	0.17632	-0.205000	0.10907	-0.108000	0.15293	0.070000	0.22072	0.000000	0.08366	0.024000	0.12247	0.3688:0.0:0.6312:0.0	9.316	0.37097	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.000000	0.005435	0.002941	0.050000	0.000000	0.006098	0.007634	0.08333	1396.83	102	chr10	44984908	.	G	A	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=285;ExcessHet=0;FS=7.704;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.124;SOR=0.64	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1407,0,1073	5	0	1	0
chr10	48913629	48913629	C	T	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.G527A:p.R176Q,LRRC18:NM_001378102:exon3:c.G527A:p.R176Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0118631937382	.	0.000599042	0.0004	0	8.658e-05	0.0001	0	0	0.0022	0.0025	0.0003234	50	154602	rs540331593	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	6.708e-05	0	5.039e-05	0	0.0002	1.978e-05	0.0001	0.0027	7.891e-05	7.876e-05	6.432e-05	9.417e-05	0.0015	4.5e-05	3.515e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	5.885e-05	0	0.0015	0.341	0.12673	T	0.398	0.15109	T	1.0	0.90584	D	0.945	0.68163	D	0.000020	0.62929	D	0.118758	0.977552	0.81001	D	2.08	0.57402	M	2.33	0.16492	T	-0.61	0.18042	N	0.625	0.63968	-1.1354	0.01540	T	0.103	0.38069	T	9	0.029103428	0.01038	T	0.011863	0.29900	T	0.108	0.30607	.	.	0.641048165634	0.63808	0.616870018483207	0.61619	0.0171494012742	0.01662	0.458612561226	0.33120	T	0.01188	0.10530	T	-0.391997	0.02611	T	-0.339218	0.40433	T	0.0952814518986346	0.11830	T	0.90371	0.66210	D	0.12042565	0.28338	0.1085676	0.26153	0.12042565	0.28338	0.1085676	0.26152	-4.109	0.25423	T	.	.	0.246	0.48082	B	.	.	4.720502	0.75923	26.4	0.99944233548476769	0.99868	0.89427	0.49885	D	AEFDBI	0.687839	0.64904	D	0.484484762579958	0.66183	4.917389	0.43933369508021	0.64034	4.649709	0.99983365386671	0.43792	0.497415	0.19182	0	0.446627	0.06534	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	6.026000	0.70520	5.990000	0.52315	0.599000	0.40250	0.794000	0.29644	0.901000	0.27973	0.872000	0.41544	0.0:1.0:0.0:0.0	19.986	0.97352	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	2290.83	188	chr10	48913629	.	C	T	2290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=437;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.522;SOR=0.715	GT:AD:DP:GQ:PL	0/1:106,82:188:99:2301,0,2794	5	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	.	.	.	.	.	.	.	.	0.1667	142.59	67	chr10	50104143	.	G	C	142.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.847;DP=298;ExcessHet=1.383;FS=152.023;MLEAC=1;MLEAF=0.167;MQ=56.82;MQRankSum=-0.632;QD=0.89;ReadPosRankSum=0.198;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:64:0|1:50104141_G_C:64,0,1854:50104141	2	0	1	3
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	.	.	.	.	.	.	.	.	0.1667	135.59	66	chr10	50104144	.	G	C	135.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.822;DP=299;ExcessHet=1.383;FS=148.216;MLEAC=1;MLEAF=0.167;MQ=56.55;MQRankSum=-0.632;QD=0.85;ReadPosRankSum=0.155;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,11:66:57:0|1:50104141_G_C:57,0,1857:50104141	2	0	1	3
chr10	52315038	52315038	G	T	exonic	DKK1	.	nonsynonymous SNV	DKK1:NM_012242:exon2:c.G359T:p.R120L	.	433	1065	23	1	0	25	0.0116009	.	.	.	3203121	DKK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.628	0.112200472305	0.0031	0.00179712	0.0030	0.0008	0.0014	0	0.0026	0.0045	0.0012	0.0016	0.0030336	469	154602	rs149268042	0.0032	0.0032	0.0032	0.0032	0.0065	0.0031	0.0031	0.0048	0.0043	0.0007	0.0020	0.0019	0	0.0026	0.0065	0.0037	0.0035	0.0009	0.0027	0.0026	0.0026	0.0027	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0028	0.0017	0	0.0018	0.0068	0.0044	0.0009	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.31	0.58613	T	-6.24	0.90530	D	0.869	0.86618	-0.2844	0.75420	T	0.356	0.71850	T	10	0.03161475	0.01298	T	0.112	0.79025	D	0.628	0.85666	.	.	0.845139130204	0.84365	0.8551742031728298	0.85480	1.46418215405	0.86425	0.691517591476	0.65924	T	0.884067	0.97593	D	-0.00284609	0.51263	T	0.223539	0.84353	D	0.0377790005916916	0.03294	T	0.940906	0.77861	D	0.865348	0.88496	0.91031516	0.95710	0.865348	0.88498	0.91031516	0.95711	-10.175	0.74953	D	.	.	0.890	0.82124	P	.	.	5.769340	0.93470	33	0.9985394765256036	0.93279	0.98452	0.82924	D	ALL	0.928434	0.91264	D	0.930171634963395	0.93158	11.85783	0.905322837866325	0.95801	13.98185	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.273489	0.05413	2	.	.	5.63	5.63	0.86108	9.493000	0.96944	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.269	0.93989	871	0.31377	Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.000000	0.002717	0.000000	0.000000	0.008621	0.024390	0.000000	0.08333	757.83	56	chr10	52315038	.	G	T	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.315;SOR=0.573	GT:AD:DP:GQ:PL	0/1:26,30:56:99:768,0,646	5	0	1	0
chr10	60208146	60208146	C	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001204404:exon10:c.G1033A:p.D345N,ANK3:NM_001320874:exon10:c.G1084A:p.D362N,ANK3:NM_020987:exon10:c.G1084A:p.D362N,ANK3:NM_001204403:exon11:c.G1066A:p.D356N	.	.	.	.	.	.	.	.	.	.	.	2057606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0340782614113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000468	0.44119	D	0.000000	1	0.81001	D	0.525	0.13617	N	2.41	0.15492	T	-4.25	0.76094	D	0.607	0.71854	-1.0657	0.10386	T	0.085	0.33241	T	10	0.5186378	0.62513	D	0.034078	0.55428	D	0.301	0.62179	0.361	0.36548	0.615371241448	0.61226	0.5651495797369473	0.56441	1.56905615492	0.88162	0.886943995953	0.94874	D	0.437727	0.78364	T	-0.173721	0.24673	T	-0.487315	0.23673	T	0.985933244228363	0.76786	D	0.994593	0.98228	D	0.26040813	0.49097	0.25852486	0.51586	0.26040813	0.49097	0.25852486	0.51585	-11.388	0.83033	D	0.6187938037992031	0.68697	0.872	0.81017	P	.;.;.	.;.;.	5.137617	0.85998	28.8	0.99924332449378639	0.98980	0.97746	0.76833	D	AEFGBI	0.877625	0.80238	D	0.516483525993884	0.68063	5.166045	0.505243244594011	0.68344	5.206919	0.999999999677697	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.78	4.78	0.60666	7.863000	0.85446	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.010	0.89142	881	0.29269	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2863.83	199	chr10	60208146	.	C	T	2863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.541;DP=372;ExcessHet=0;FS=7.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.546;SOR=1.152	GT:AD:DP:GQ:PL	0/1:94,105:199:99:2874,0,2709	5	0	1	0
chr10	86687235	86687235	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G511A:p.A171T,LDB3:NM_001080114:exon6:c.G511A:p.A171T,LDB3:NM_001171610:exon6:c.G856A:p.A286T,LDB3:NM_001171611:exon6:c.G856A:p.A286T,LDB3:NM_001368066:exon6:c.G511A:p.A171T,LDB3:NM_001368067:exon6:c.G511A:p.A171T,LDB3:NM_001368068:exon6:c.G511A:p.A171T	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	175315	LDB3-related_disorder|Cardiovascular_phenotype|not_specified|not_provided|Myofibrillar_myopathy_4	.|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.487	0.0895439762008	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0012	0.0003234	50	154602	rs373632943	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0	2.236e-05	0.0031	0	1.873e-05	0.0012	7.104e-05	0.0004	0.0011	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.719e-05	0.0001	8.877e-05	2.413e-05	0	6.545e-05	0.0020	0	0	0	0.0002	0	0.0002	0.095	0.37966	T	0.287	0.29639	T	0.969	0.90584	D	0.475	0.88582	P	.	.	.	.	0.999848	0.81001	D	.	.	.	-2.48	0.89071	D	-1.44	0.40468	N	0.758	0.90818	0.379	0.88787	D	0.731	0.90801	D	9	0.20944616	0.37307	T	0.089544	0.75346	D	0.487	0.77528	.	.	0.85673930684	0.85536	0.8005427467644748	0.80008	0.751670780279	0.63815	.	.	.	.	.	.	-0.141424	0.29663	T	-0.0263633	0.68610	D	0.141569112921031	0.16410	T	0.975102	0.91204	D	.	.	.	.	.	.	.	.	-6.274	0.55445	T	.	.	0.761	0.75543	P	.;.;.;.;.	.;.;.;.;.	3.285604	0.45040	22.1	0.99927132148271658	0.99163	0.99730	0.99029	D	AEFDBI	0.947084	0.95726	D	0.5939877077904	0.72796	5.862817	0.620990179665641	0.76465	6.496245	1.0	0.98316	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	18.601	0.91203	893	0.26510	.;.;Domain of unknown function DUF4749|Zasp-like motif;.;.	.	.	.	.	.	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	0.008621	0.000000	0.000000	0.08333	642.83	98	chr10	86687235	.	G	A	642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=301;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.398;SOR=1.024	GT:AD:DP:GQ:PL	0/1:67,31:98:99:653,0,1601	5	0	1	0
chr10	87228559	87228559	G	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.G679A:p.A227T	.	.	.	.	.	.	.	.	.	.	.	3570172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00143511593351	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199718151	7.447e-05	0.0004	6.994e-05	7.905e-05	0.0005	6.298e-05	5.854e-05	0.0003	0.0002	0.0005	0.0001	3.877e-05	2.522e-05	7.619e-05	0	5.248e-05	0.0002	0.0001	4.63e-05	0.0003	5.174e-05	4.061e-05	9.698e-05	2.122e-05	1.535e-05	3.26e-05	1.922e-05	9.698e-05	0	0	0	0	0	0	4.444e-05	0	0	0.909	0.03068	T	0.925	0.13103	T	0.036	0.20732	B	0.021	0.19346	B	0.763085	0.09607	N	0.883975	1	0.08975	N	.	.	.	2.02	0.21119	T	0.55	0.03352	N	0.204	0.22614	-1.0244	0.22279	T	0.064	0.26597	T	9	0.051602364	0.05066	T	0.001435	0.02139	T	0.023	0.04649	0.335	0.32329	0.147330786459	0.14319	0.04651646121981675	0.04595	.	.	0.59480881691	0.52172	T	0.001913	0.01327	T	-0.209094	0.19506	T	-0.538126	0.18480	T	0.0326954163610935	0.02420	T	0.283672	0.04999	T	0.025062783	0.01403	0.047015186	0.06680	0.025062783	0.01402	0.047015186	0.06679	-4.802	0.35925	T	.	.	0.091	0.15341	B	.;.	.;.	0.560745	0.09292	6.075	0.8527049045715942	0.15789	0.00295	0.01577	N	AEFI	0.020468	0.00811	N	-0.614519648228761	0.18506	0.9614216	-0.819970716240098	0.14012	0.7299452	2.7853756831137E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.303000	0.18965	-20.000000	0.00162	0.380000	0.20399	0.051000	0.21449	0.000000	0.08366	0.022000	0.11911	0.0:0.0:1.0:0.0	6.136	0.19451	925	0.17918	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	.	.	.	.	.	.	.	.	0.08333	70.84	18	chr10	87228559	.	G	A	70.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.35;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.62;MQRankSum=0.563;QD=3.94;ReadPosRankSum=-1.837;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,3:18:81:0|1:87228550_C_T:81,0,621:87228550	5	0	1	0
chr10	96027298	96027298	G	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001159747:exon11:c.G926C:p.R309P,CC2D2B:NM_001349008:exon34:c.G4034C:p.R1345P	.	.	.	.	.	.	.	.	.	.	.	3422059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0538840406667	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs747323227	2.144e-05	2.121e-05	1.269e-05	3.044e-05	0.0004	1.521e-05	1.32e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.27e-07	0	0.0004	1.314e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.999954	0.19072	N	.	.	.	-0.58	0.71425	T	-6.12	0.90060	D	0.646	0.65758	-0.6228	0.63872	T	0.398	0.75009	T	9	0.56301177	0.64894	D	0.053884	0.65644	D	0.357	0.67782	0.665	0.80300	0.513394077459	0.50981	0.6924491600261132	0.69184	0.591526734513	0.54588	0.324688792229	0.14131	T	.	.	.	-0.200396	0.20747	T	-0.235488	0.51238	T	0.755642890930176	0.43603	D	0.772023	0.40277	T	.	.	.	.	.	.	.	.	-13.137	0.89918	D	.	.	0.863	0.80455	P	.;.	.;.	3.844141	0.55645	23.6	0.99598563785941796	0.74042	0.83884	0.42976	D	AEFI	0.566264	0.57232	D	0.292693509318133	0.55778	3.741884	0.222054365572657	0.51072	3.29306	1.07442799099971E-5	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	2.99	0.33673	3.421000	0.52501	2.236000	0.31572	0.676000	0.76740	0.926000	0.32145	1.000000	0.68203	0.969000	0.54022	0.2222:0.0:0.7778:0.0	9.160	0.36180	409	0.82198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001259	0.000000	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	1343.83	102	chr10	96027298	.	G	C	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=282;ExcessHet=0;FS=4.848;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.397;SOR=0.654	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1354,0,1003	5	0	1	0
chr10	98392430	98392430	A	C	splicing	PYROXD2	NM_032709:exon10:c.1062+2T>G	.	.	.	428	1089	5	0	0	5	0.00229043	1.0000	0.94	.	2523796	Leigh_syndrome	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.292e-05	0	0	0	0	0.0001	0	6.222e-05	8.41e-05	13	154602	rs199640378	8.145e-05	8.14e-05	7.764e-05	8.53e-05	0.0023	6.939e-05	6.49e-05	0.0013	0.0011	0.0003	6.709e-05	0	0	0	0.0023	6.835e-05	0.0002	5.798e-05	8.562e-05	8.542e-05	7.725e-05	9.44e-05	0.0001	4.969e-05	3.971e-05	7.918e-05	6.001e-05	2.421e-05	0	0	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0131164	0.49829	T	-0.0199487	0.69032	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.897913	0.80482	27.3	0.99366369496913998	0.61240	0.98084	0.79462	D	AEFBHCI	.	.	.	1.00836279071477	0.95996	14.18727	0.810581919512467	0.90519	10.44468	0.999999999793016	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.896785	0.56392	5.0	5.0	0.66209	8.728000	0.91213	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	1.0:0.0:0.0:0.0	14.405	0.66648	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1044.83	62	chr10	98392430	.	A	C	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=240;ExcessHet=0;FS=2.281;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-2.515;SOR=0.437	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1055,0,602	5	0	1	0
chr10	98443214	98443214	C	G	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_000195:exon3:c.G27C:p.E9D,HPS1:NM_001322476:exon3:c.G27C:p.E9D,HPS1:NM_001322477:exon3:c.G27C:p.E9D,HPS1:NM_001322478:exon3:c.G27C:p.E9D,HPS1:NM_001322479:exon3:c.G27C:p.E9D,HPS1:NM_001322480:exon3:c.G27C:p.E9D,HPS1:NM_001322481:exon3:c.G27C:p.E9D,HPS1:NM_001322482:exon3:c.G27C:p.E9D,HPS1:NM_001322490:exon3:c.G27C:p.E9D,HPS1:NM_001322491:exon3:c.G27C:p.E9D,HPS1:NM_001322492:exon3:c.G27C:p.E9D,HPS1:NM_182639:exon3:c.G27C:p.E9D	Hermansky-Pudlak syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	311911	not_specified|not_provided|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0042	0.00459265	0.0016	0.0130	0.0014	0	0	0.0006	0	0.0001	0.0017011	263	154602	rs7914192	0.0009	0.0009	0.0009	0.0008	0.0138	0.0008	0.0008	0.0127	0.0123	0.0138	0.0026	0	0.0001	0	0.0081	0.0004	0.0028	0.0002	0.0040	0.0040	0.0039	0.0042	0.0120	0.0038	0.0037	0.0111	0.0108	0.0120	0	0.0042	0	0	0	0.0034	0.0005	0.0062	0	0.112	0.34621	T	0.041	0.52060	D	0.995	0.77913	D	0.858	0.67921	P	0.000013	0.62929	D	0.111010	0.977656	0.39387	D	2.57	0.75187	M	1.47	0.31987	T	-1.4	0.34596	N	0.171	0.19728	-0.9983	0.30395	T	0.103	0.37919	T	10	0.00729838	0.00166	T	.	.	.	0.144	0.38394	0.397	0.42426	0.252681307341	0.24864	0.5602575712252362	0.55952	0.152108551472	0.17161	0.480261653662	0.36092	T	0.137529	0.47052	T	-0.480947	0.00730	T	-0.452592	0.27410	T	0.0176005658342346	0.00493	T	0.905809	0.66782	D	0.05464702	0.10513	0.07127513	0.15244	0.065598436	0.14035	0.065546155	0.13301	-9.206	0.69921	D	0.2355084455467367	0.31888	0.166	0.36673	B	.;.;.;.	.;.;.;.	2.183723	0.27838	17.60	0.99713304300734629	0.81493	0.75384	0.36907	D	AEFDBCI	0.330109	0.43025	N	0.20853426575813	0.51610	3.341074	0.0948989334595912	0.44291	2.713758	0.998844893951038	0.37800	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	0.483	0.16030	0.139000	0.15858	0.177000	0.15587	0.599000	0.40250	0.937000	0.32526	0.935000	0.28640	0.902000	0.43815	0.0:0.5504:0.0:0.4496	8.575	0.32751	807	0.43470	.;.;.;.	.	.	.	.	.	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	0.014099	0.045455	0.023098	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1938.83	155	chr10	98443214	.	C	G	1938.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.908;DP=332;ExcessHet=0;FS=1.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.466;SOR=0.83	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1949,0,2026	5	0	1	0
chr10	99850742	99850742	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon31:c.A4454G:p.H1485R	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	317681	Dubin-Johnson_syndrome|ABCC2-related_disorder	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0330209178612	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs780026074	3.762e-05	3.762e-05	2.859e-05	4.675e-05	4.496e-05	2.959e-05	2.655e-05	3.459e-05	3.121e-05	0	2.236e-05	0	0	3.744e-05	0	4.496e-05	3.311e-05	0	5.913e-05	5.91e-05	6.422e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.338e-05	2.412e-05	0	6.544e-05	0	0	0	0	0.0001	0	0	0.011	0.55530	D	0.017	0.60337	D	0.161	0.28372	B	0.081	0.28987	B	0.002327	0.36766	N	0.333505	0.726786	0.33675	D	0.32	0.10341	N	-1.07	0.76948	T	-1.02	0.26843	N	0.25	0.28264	-0.6275	0.63676	T	0.241	0.60929	T	10	0.26639444	0.44144	T	0.033021	0.54684	D	0.361	0.68141	0.528	0.63412	0.802955540247	0.80111	0.5590736203082878	0.55834	0.0652368688882	0.07282	0.36019384861	0.19414	T	0.105339	0.41572	T	-0.190408	0.22199	T	-0.325381	0.41980	T	0.165962114930153	0.18301	T	0.951105	0.81346	D	0.15050434	0.34260	0.15921448	0.37143	0.15050434	0.34260	0.15921448	0.37142	-5.799	0.44566	T	0.2860719272644345	0.38207	0.075	0.05447	B	.;.	.;.	3.127494	0.42246	21.5	0.99023183008822413	0.50634	0.86870	0.46248	D	AEFGBHCI	0.925454	0.90502	D	-0.0659386449843765	0.38893	2.285028	0.13338896060839	0.46268	2.875525	0.999999999875955	0.74766	0.50284	0.20314	0	0.624146	0.53433	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	6.103000	0.71146	4.698000	0.44396	0.688000	0.82842	1.000000	0.71638	0.699000	0.26222	0.824000	0.38829	1.0:0.0:0.0:0.0	14.829	0.69764	730	0.54327	ABC transporter-like|AAA+ ATPase domain;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	.	.	.	.	.	.	.	.	0.08333	1706.83	125	chr10	99850742	.	A	G	1706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=293;ExcessHet=0;FS=1.417;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.289;SOR=0.789	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1717,0,1364	5	0	1	0
chr10	103447301	103447301	G	A	exonic	CALHM2	.	nonsynonymous SNV	CALHM2:NM_015916:exon4:c.C823T:p.R275W	.	420	1087	14	1	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	7.7e-05	0.00199681	0.0010	0.0002	0.0002	0	0	0.0001	0	0.0068	0.0008732	135	154602	rs370784297	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0	5.038e-05	0	0.0014	9.892e-05	0.0005	0.0066	0.0003	0.0003	0.0003	0.0004	0.0085	0.0003	0.0002	0.0064	0.0057	7.214e-05	0	0.0001	0	0	0	0	8.82e-05	0.0005	0.0085	0.007	0.59928	D	0.008	0.67890	D	0.998	0.73220	D	0.764	0.56591	P	0.000022	0.55875	D	0.113847	0.993703	0.42026	D	0.695	0.17993	N	2.16	0.19166	T	-0.88	0.23808	N	0.351	0.43029	-1.0655	0.10432	T	0.085	0.33099	T	10	0.0074653625	0.00170	T	.	.	.	0.135	0.36572	.	.	0.460969658426	0.45724	0.6293661581179711	0.62870	0.784449382396	0.65439	0.523022949696	0.42051	T	0.024396	0.18443	T	-0.427882	0.01527	T	-0.384231	0.35227	T	0.0410869378643372	0.03887	T	0.933507	0.75104	D	0.4605279	0.64704	0.1947734	0.43118	0.4605279	0.64704	0.1947734	0.43117	-5.493	0.41803	T	.	.	0.204	0.43503	B	.;.	.;.	4.596652	0.72755	25.9	0.99915148297823286	0.98309	0.83633	0.42737	D	AEFDGBCI	0.500760	0.53388	D	0.363649136374822	0.59465	4.126003	0.339156152091676	0.57857	3.953194	0.999999925351106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.37	3.27	0.36580	1.936000	0.39812	4.803000	0.44983	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.671000	0.33280	0.0:0.0:0.5603:0.4396	13.169	0.59009	232	0.90957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	2202.83	128	chr10	103447301	.	G	A	2202.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=318;ExcessHet=0;FS=2.314;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.928;SOR=0.671	GT:AD:DP:GQ:PL	0/1:50,78:128:99:2213,0,1210	5	0	1	0
chr10	117201263	117201263	T	C	exonic	KCNK18	.	nonsynonymous SNV	KCNK18:NM_181840:exon2:c.T328C:p.C110R	.	420	1094	8	0	0	8	0.00364299	.	.	.	1156357	not_provided|KCNK18-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0063	0.00219649	0.0069	0.0009	0.0010	0	0.0065	0.0109	0.0055	0.0024	0.0068304	1056	154602	rs140325655	0.0086	0.0086	0.0087	0.0085	0.0102	0.0085	0.0084	0.0100	0.0099	0.0010	0.0021	0.0033	0	0.0087	0.0021	0.0102	0.0064	0.0025	0.0063	0.0063	0.0065	0.0060	0.0106	0.0059	0.0058	0.0099	0.0097	0.0014	0.0362	0.0031	0.0040	0	0.0061	0	0.0106	0.0033	0.0023	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	1.48	0.31731	T	-5.98	0.89334	D	0.872	0.86941	-0.5045	0.68486	T	0.186	0.53631	T	10	0.016736627	0.00354	T	.	.	.	0.573	0.82686	.	.	0.585653999902	0.58239	0.9517833255522399	0.95162	0.358648049777	0.37576	0.570605754852	0.48764	T	0.803978	0.95031	D	-0.102132	0.36070	T	0.0909063	0.76305	D	0.0567539157303191	0.06647	T	0.845715	0.52486	T	0.9314662	0.94383	0.9018107	0.95105	0.9314662	0.94384	0.9018107	0.95105	-15.184	0.96270	D	.	.	0.949	0.86762	P	.	.	4.898542	0.80495	27.3	0.99738502454754385	0.83337	0.97039	0.72336	D	AEFBI	0.763960	0.70090	D	0.798126045455176	0.85989	8.743628	0.701540775448447	0.82495	7.781324	0.892836857960694	0.25892	0.487112	0.14033	0	0.586423	0.34054	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.786000	0.68654	5.934000	0.51367	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.731	0.62272	735	0.53711	Potassium channel domain	.	.	.	.	rs140325655	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.015152	0.08333	2455.83	187	chr10	117201263	.	T	C	2455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.533;DP=379;ExcessHet=0;FS=1.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.193;SOR=0.565	GT:AD:DP:GQ:PL	0/1:84,103:187:99:2466,0,2267	5	0	1	0
chr10	123842401	123842401	G	A	exonic	CPXM2	.	nonsynonymous SNV	CPXM2:NM_198148:exon4:c.C601T:p.R201C	.	433	1085	4	0	0	4	0.00183993	.	.	.	3660965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.885	0.515309354027	7.7e-05	.	2.471e-05	0	8.64e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs137943270	3.078e-05	3.147e-05	2.178e-05	3.988e-05	0.0005	2.347e-05	2.095e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	2.518e-05	6.623e-05	2.319e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.54e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.54e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	3.86	0.95841	H	-4.84	0.98229	D	-4.38	0.77143	D	0.87	0.86725	1.072	0.98642	D	0.971	0.99085	D	10	0.955436	0.94903	D	0.515309	0.95364	D	0.885	0.96651	.	.	0.989626038119	0.98950	0.740920254335583	0.74037	0.887556139356	0.70071	0.759340643883	0.75832	T	0.788998	0.94499	D	0.300063	0.82973	D	0.48673	0.94352	D	0.995369851589203	0.87292	D	0.988801	0.96179	D	0.5019062	0.67206	0.31693715	0.57672	0.5019062	0.67207	0.31693715	0.57671	-12.618	0.87730	D	.	.	0.480	0.63637	A	.	.	5.029371	0.83633	28.1	0.99933719858477044	0.99488	0.87278	0.46769	D	AEFBI	0.722914	0.67269	D	0.698917103729601	0.79559	7.103768	0.564119224823894	0.72386	5.801575	0.896329874876261	0.25975	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	4.25	0.49658	2.416000	0.44298	5.303000	0.48242	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.7091:0.2909	12.633	0.56025	856	0.34373	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3274.04	112	chr10	123842401	.	G	A	3274.04	.	AC=2;AF=0.167;AN=12;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.23;SOR=0.884	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3294,336,0	5	1	0	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,15:86:99:0|1:124989533_G_A:338,0,2804:124989533	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:81,12:93:99:169,0,2720	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,12:147:98:0|1:124994489_T_G:98,0,5612:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:124994489_T_G:151,0,5985:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:124994489_T_G:151,0,5966:124994489	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,17:168:99:0|1:124994523_G_A:220,0,6131:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:141,23:164:99:202,0,4004	0	0	6	0
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	.	.	.	.	.	.	.	.	0.3333	1627.61	163	chr10	124994563	.	A	T	1627.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.781;DP=939;ExcessHet=3.1439;FS=59.81;MLEAC=4;MLEAF=0.333;MQ=56.33;MQRankSum=-6.314;QD=2.9;ReadPosRankSum=3.01;SOR=4.512	GT:AD:DP:GQ:PL	0/1:139,24:163:99:210,0,3956	2	0	4	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,26:168:99:0|1:124994577_C_A:663,0,5845:124994577	0	0	6	0
chr10	124998040	124998040	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G693C:p.Q231H,CTBP2:NM_022802:exon4:c.G2109C:p.Q703H,CTBP2:NM_001321013:exon5:c.G489C:p.Q163H,CTBP2:NM_001083914:exon6:c.G489C:p.Q163H,CTBP2:NM_001290214:exon6:c.G489C:p.Q163H,CTBP2:NM_001290215:exon6:c.G489C:p.Q163H,CTBP2:NM_001321012:exon6:c.G489C:p.Q163H,CTBP2:NM_001321014:exon6:c.G489C:p.Q163H,CTBP2:NM_001329:exon6:c.G489C:p.Q163H	.	404	1111	5	2	0	9	0.00403407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.142134209224	.	.	8.714e-06	0	0	0	0	1.573e-05	0	0	6.5e-06	1	154602	rs775975320	1.574e-05	1.573e-05	1.498e-05	1.651e-05	2.987e-05	1.048e-05	8.76e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.979e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.57480	T	0.149	0.53426	T	0.913	0.64070	P	0.83	0.66185	P	0.000001	0.62929	D	0.101360	0.99708	0.47407	D	0.715	0.18665	N	-1.78	0.84267	D	-3.21	0.64826	D	0.582	0.61596	0.084	0.83885	D	0.572	0.84545	D	10	0.6701838	0.70666	D	0.142134	0.82452	D	0.636	0.86078	0.394	0.41935	0.880865803775	0.87969	0.8666686377607329	0.86631	1.9200269807	0.92987	0.711090385914	0.68751	T	0.514408	0.82896	D	0.110733	0.65429	D	-0.0787158	0.64999	T	0.97025990486145	0.68882	D	0.920608	0.71304	D	0.47036386	0.65312	0.33841702	0.59620	0.47036386	0.65313	0.33841702	0.59619	-8.75	0.68924	D	.	.	0.686	0.72380	P	.;.;.;.;.;.	.;.;.;.;.;.	4.385503	0.67640	25.1	0.99485946367516176	0.67180	0.84089	0.43174	D	AEFDGBCI	0.547523	0.56119	D	0.28889792576844	0.55585	3.722561	0.271039989478986	0.53856	3.552559	0.999999772718871	0.74766	0.78354	0.99714	0	0.550933	0.16991	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	4.73	3.81	0.43020	0.905000	0.28127	2.709000	0.34221	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.6939:0.1461:0.16	6.724	0.22533	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	88.7	117	chr10	124998040	.	C	G	88.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.089;DP=705;ExcessHet=0;FS=12.735;MLEAC=1;MLEAF=0.1;MQ=58.78;MQRankSum=-7.506;QD=0.76;ReadPosRankSum=-2.652;SOR=2.28	GT:AD:DP:GQ:PL	0/1:107,10:117:98:98,0,4413	4	0	1	1
chr10	124998076	124998076	C	T	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon4:c.G657A:p.W219X,CTBP2:NM_022802:exon4:c.G2073A:p.W691X,CTBP2:NM_001321013:exon5:c.G453A:p.W151X,CTBP2:NM_001083914:exon6:c.G453A:p.W151X,CTBP2:NM_001290214:exon6:c.G453A:p.W151X,CTBP2:NM_001290215:exon6:c.G453A:p.W151X,CTBP2:NM_001321012:exon6:c.G453A:p.W151X,CTBP2:NM_001321014:exon6:c.G453A:p.W151X,CTBP2:NM_001329:exon6:c.G453A:p.W151X	.	401	1112	7	2	0	11	0.0049217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.944	0.95139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	10.873956	0.99866	50	0.99735839356865152	0.83119	0.91019	0.52702	D	AEFDGBCI	0.374544	0.45940	N	0.893973894747138	0.91462	10.89553	0.75931065535564	0.86851	9.023663	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	98.7	130	chr10	124998076	.	C	T	98.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.489;DP=800;ExcessHet=0;FS=15.206;MLEAC=1;MLEAF=0.1;MQ=58.59;MQRankSum=-8.526;QD=0.76;ReadPosRankSum=1.53;SOR=2.654	GT:AD:DP:GQ:PL	0/1:118,12:130:99:108,0,4913	4	0	1	1
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	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	1435.82	130	chr10	124998077	.	C	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.906;DP=835;ExcessHet=1.383;FS=18.751;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.16;QD=3.43;ReadPosRankSum=1.92;SOR=2.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,13:130:99:0|1:124998077_C_G:194,0,4813:124998077	0	0	3	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1432.82	131	chr10	124998080	.	G	C	1432.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.443;DP=833;ExcessHet=1.383;FS=18.548;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.19;QD=3.42;ReadPosRankSum=2.2;SOR=2.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,13:131:99:0|1:124998077_C_G:191,0,4875:124998077	0	0	3	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1441.82	129	chr10	124998087	.	T	C	1441.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.763;DP=839;ExcessHet=1.383;FS=18.297;MLEAC=4;MLEAF=0.667;MQ=58.22;MQRankSum=-8.13;QD=3.47;ReadPosRankSum=3.18;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,13:129:99:0|1:124998077_C_G:197,0,4832:124998077	0	0	3	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1429.82	129	chr10	124998090	.	G	A	1429.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.079;DP=845;ExcessHet=1.383;FS=18.634;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.13;QD=3.4;ReadPosRankSum=3.54;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,13:129:99:0|1:124998077_C_G:197,0,4825:124998077	0	0	3	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998111	.	A	C	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.488;DP=845;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.27;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.85;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,13:130:99:0|1:124998111_A_C:194,0,4870:124998111	0	0	3	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1435.82	130	chr10	124998113	.	A	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.104;DP=843;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.51;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,13:130:99:0|1:124998111_A_C:194,0,4870:124998111	0	0	3	3
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	.	.	.	.	.	.	.	.	0.3	268.59	62	chr10	125003448	.	G	C	268.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.52;DP=253;ExcessHet=1.383;FS=1.013;MLEAC=3;MLEAF=0.3;MQ=58.86;MQRankSum=-5.588;QD=2.05;ReadPosRankSum=1.01;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,5:62:38:0|1:125003425_G_C:38,0,2378:125003425	2	0	3	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	187.59	63	chr10	125003450	.	G	A	187.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.524;DP=245;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.3;MQ=58.98;MQRankSum=-5.498;QD=1.47;ReadPosRankSum=0.804;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,5:63:35:0|1:125003425_G_C:35,0,2420:125003425	2	0	3	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	184.99	64	chr10	125003453	.	CG	C	184.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.666;DP=242;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.25;MQ=58.98;MQRankSum=-5.498;QD=1.45;ReadPosRankSum=0.473;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	3	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	193.58	64	chr10	125003460	.	G	T	193.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.866;DP=238;ExcessHet=1.383;FS=2.229;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.54;ReadPosRankSum=0.21;SOR=0.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	2	0	3	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	185.02	65	chr10	125003466	.	G	T	185.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.714;DP=234;ExcessHet=1.383;FS=2.453;MLEAC=3;MLEAF=0.25;MQ=58.97;MQRankSum=-5.388;QD=1.45;ReadPosRankSum=-0.064;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:29:0|1:125003425_G_C:29,0,2504:125003425	3	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.02	64	chr10	125003468	.	C	A	191.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.988;DP=236;ExcessHet=1.383;FS=1.049;MLEAC=3;MLEAF=0.25;MQ=59.14;MQRankSum=-5.588;QD=1.52;ReadPosRankSum=-0.2;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	3	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	196.58	64	chr10	125003470	.	G	T	196.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.418;DP=235;ExcessHet=1.383;FS=1.042;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.57;ReadPosRankSum=-0.496;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:125003425_G_C:32,0,2462:125003425	2	0	3	1
chr10	128105589	128105589	T	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.A5171C:p.Q1724P,MKI67:NM_002417:exon13:c.A6251C:p.Q2084P	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0140867334427	0.0005	0.000998403	0.0009	9.61e-05	0.0010	0	0.0002	0.0011	0.0011	0.0012	0.0007697	119	154602	rs146580693	0.0008	0.0008	0.0007	0.0009	0.0064	0.0008	0.0007	0.0048	0.0042	0.0001	0.0007	0	0	9.36e-05	0.0064	0.0008	0.0008	0.0014	0.0007	0.0007	0.0006	0.0008	0.0013	0.0006	0.0006	0.0009	0.0009	7.216e-05	0.0033	0.0013	0	0	0	0	0.0011	0.0005	0.0006	0.08	0.35537	T	0.025	0.58089	D	0.998	0.77913	D	0.994	0.82059	D	0.369430	0.13550	N	0.625713	1	0.08975	N	2.455	0.71248	M	3.87	0.03597	T	-2.77	0.59226	D	0.404	0.46649	-1.0543	0.13225	T	0.034	0.14464	T	10	0.025486767	0.00741	T	0.014087	0.33970	T	0.220	0.51569	.	.	0.306695030598	0.30287	0.04278496532439751	0.04223	0.320030098083	0.34209	0.246007561684	0.03359	T	0.068078	0.33364	T	-0.361264	0.04059	T	-0.327086	0.41794	T	0.05535333263228	0.06416	T	0.443756	0.14398	T	0.28777495	0.51786	0.35991952	0.61442	0.28777495	0.51786	0.35991952	0.61442	-7.859	0.60105	D	.	.	0.397	0.59404	A	.;.	.;.	1.749154	0.22250	15.54	0.99513041134906233	0.68739	0.20679	0.21129	N	AEFBCI	0.097128	0.19596	N	-0.0804404569548163	0.38250	2.23745	-0.298049594435815	0.28162	1.568084	0.99999949977282	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.95	3.95	0.44952	-0.071000	0.11465	-0.611000	0.08222	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.039000	0.14166	0.0:0.0952:0.0:0.9048	8.353	0.31477	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1926.83	143	chr10	128105589	.	T	G	1926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.584;DP=707;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.553;SOR=0.567	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1937,0,2374	5	0	1	0
chr10	129759232	129759243	TGCTGAAGGTTG	-	exonic	MGMT	.	nonframeshift deletion	MGMT:NM_002412:exon4:c.305_316del:p.L103_V106del	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0003	0	0	0	0	0	0	0.0019	0.0001153	3	26028	rs556530054	0.0001	0.0001	5.717e-05	0.0002	0.0019	0.0001	9.567e-05	0.0017	0.0016	0	0	0	2.519e-05	0	0	0	3.311e-05	0.0019	5.908e-05	5.905e-05	5.138e-05	6.712e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1324.79	95	chr10	129759231	.	CTGCTGAAGGTTG	C	1324.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=271;ExcessHet=0;FS=0.785;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.684;SOR=0.785	GT:AD:DP:GQ:PL	0/1:59,36:95:99:1335,0,2369	5	0	1	0
chr10	130079850	130079850	G	T	exonic	C10orf143	.	nonsynonymous SNV	C10orf143:NM_001355042:exon2:c.C121A:p.Q41K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12646073	0.24042	T	.	.	.	.	.	.	.	.	.	0.018106321364771208	0.01764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346065	0.07604	T	0.043273218	0.06715	0.06408682	0.12792	0.043273218	0.06715	0.06408682	0.12792	-4.123	0.25628	T	.	.	0.117	0.23918	B	.	.	0.401416	0.07729	4.406	0.77774999837847802	0.12017	0.13371	0.17818	N	AEFCI	.	.	.	.	.	.	.	.	.	0.0100232626055942	0.11953	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0481801	0.07606	4.38	1.2	0.20181	0.701000	0.25293	2.933000	0.35626	0.676000	0.76740	0.004000	0.16614	0.218000	0.23694	0.032000	0.13371	0.0762:0.249:0.5471:0.1277	5.936	0.18401	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	35.62	3	chr10	130079850	.	G	T	35.62	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.967;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	1	0	1	4
chr11	376490	376490	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.G1367A:p.R456K	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0408156177146	.	.	0.0002	0.0002	0.0001	0	0	5.459e-05	0	0.0008	9.06e-05	14	154602	rs199532615	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0006	0.0005	0	0.0001	0	0	0	0.0002	0.0001	3.389e-05	0.0007	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	6.824e-05	5.102e-05	4.828e-05	0.0362	0.0002	0	0	0	0	0.0001	0	0.0002	0.238	0.17821	T	0.657	0.06576	T	0.005	0.12996	B	0.005	0.11217	B	0.000023	0.00348	N	5.295930	1	0.08975	N	0.66	0.16226	N	3.58	0.04594	T	-0.33	0.12472	N	0.096	0.07673	-0.9494	0.41075	T	0.011	0.04274	T	10	0.005123943	0.00111	T	0.040816	0.59586	D	0.016	0.02506	.	.	0.168254554758	0.16434	0.29724706279671587	0.29637	0.288884573191	0.31295	0.587463796139	0.51137	T	0.001011	0.00548	T	-0.643701	0.00079	T	-0.781681	0.02403	T	0.00988615024834871	0.00131	T	0.257674	0.04066	T	0.0726652	0.16180	0.04835619	0.07165	0.0726652	0.16180	0.04835619	0.07165	-6.201	0.47931	T	.	.	0.121	0.24967	B	.	.	-0.208260	0.03048	0.471	0.63901334987056058	0.07347	0.00133	0.00820	N	AEFDI	0.018053	0.00518	N	-1.49343461838607	0.01896	0.08319574	-1.6007355705117	0.01651	0.07493432	0.439614460347488	0.20442	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.31	-5.13	0.02665	-1.299000	0.02862	-0.478000	0.08936	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1914:0.3004:0.5082:0.0	7.366	0.25944	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.000000	0.005952	0.000000	0.000000	0.003106	0.003876	0.08333	440.83	43	chr11	376490	.	G	A	440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=205;ExcessHet=0;FS=7.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.302;SOR=1.961	GT:AD:DP:GQ:PL	0/1:27,16:43:99:451,0,755	5	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3146.78	518	chr11	1016991	.	T	*	3146.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.12;DP=1882;ExcessHet=3.1439;FS=4.294;MLEAC=2;MLEAF=0.2;MQ=56.2;MQRankSum=-7.766;QD=2.24;ReadPosRankSum=-3.865;SOR=1.047	GT:AD:DP:GQ:PL	0/1:467,45:518:99:469,0,19659	3	0	2	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6555.23	682	chr11	1017498	.	C	*	6555.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.902;DP=2225;ExcessHet=11.5949;FS=1.112;MLEAC=1;MLEAF=0.083;MQ=55.22;MQRankSum=-11.99;QD=3.01;ReadPosRankSum=3.15;SOR=0.586	GT:AD:DP:GQ:PL	0/1:389,110:682:99:3462,0,16245	5	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	42.81	213	chr11	1018228	.	G	*	42.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=729;ExcessHet=0.4139;FS=28.93;MLEAC=1;MLEAF=0.083;MQ=57.36;MQRankSum=-8.726;QD=0.12;ReadPosRankSum=-0.378;SOR=3.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,19:213:99:.:.:256,0,7501:.	5	0	1	0
chr11	1083140	1083140	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0260579296485	.	0.000199681	7.575e-05	0.0004	0	0	0	6.139e-05	0.0011	0	0.0001035	16	154602	rs555224884	6.437e-05	6.499e-05	5.86e-05	7.021e-05	0.0014	5.367e-05	4.982e-05	0.0011	0.0010	0.0014	4.473e-05	0.0006	2.519e-05	0	0.0005	1.079e-05	0.0002	0	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0007	0.0007	0.0010	0	0.0003	0.0009	0	0	0	2.941e-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	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	813.83	57	chr11	1083140	.	G	A	813.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.96;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.08;SOR=0.572	GT:AD:DP:GQ:PL	0/1:26,31:57:99:824,0,644	5	0	1	0
chr11	1095525	1095525	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966951239	6.521e-05	7.337e-05	7.112e-05	5.998e-05	0.0005	4.911e-05	4.364e-05	8.919e-05	3.659e-05	5.652e-05	5.776e-05	0.0012	0	0	0.0005	2.397e-05	0.0001	0	4.602e-05	4.594e-05	1.286e-05	8.069e-05	6.544e-05	2.11e-05	1.527e-05	8e-06	2.99e-06	4.824e-05	0	6.544e-05	0.0009	0	0	0	1.471e-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	.	.	.	.	.	.	.	.	0.08333	2989.83	177	chr11	1095525	.	C	A	2989.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=1.59;SOR=0.699	GT:AD:DP:GQ:PL	0/1:72,105:177:99:3000,0,1769	5	0	1	0
chr11	1095812	1095812	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264846372	2.906e-06	2.737e-06	1.435e-06	4.415e-06	0.0002	6.8e-07	4.6e-07	1.056e-05	3.95e-06	6.38e-05	0	0	0	0	0.0002	0	1.737e-05	0	2.001e-05	1.981e-05	0	4.094e-05	7.404e-05	5.32e-06	2.48e-06	1.963e-05	1.044e-05	7.404e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1255.83	120	chr11	1095812	.	A	G	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.195;DP=1060;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.01;MQRankSum=-0.309;QD=10.47;ReadPosRankSum=0.634;SOR=0.703	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1266,0,1723	5	0	1	0
chr11	1096281	1096281	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214153480	3.5e-05	4.452e-05	3.594e-05	3.402e-05	6.483e-05	2.71e-05	2.397e-05	1.61e-05	1.36e-05	6.483e-05	2.871e-05	0.0005	5.835e-05	4.782e-05	0	2.345e-05	5.282e-05	2.593e-05	5.329e-05	0.0001	3.905e-05	6.821e-05	6.64e-05	2.588e-05	1.852e-05	1.983e-05	1.132e-05	4.902e-05	0	6.64e-05	0.0003	0	0	0	5.928e-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	.	.	.	.	.	.	.	.	0.08333	1296.83	212	chr11	1096281	.	C	T	1296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.943;DP=2671;ExcessHet=0;FS=8.867;MLEAC=1;MLEAF=0.083;MQ=56.16;MQRankSum=-0.163;QD=6.12;ReadPosRankSum=1.14;SOR=0.329	GT:AD:DP:GQ:PL	0/1:146,66:212:99:1307,0,5044	5	0	1	0
chr11	1096363	1096363	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.848e-07	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	.	.	.	.	.	.	.	.	0.08333	1310.83	370	chr11	1096363	.	C	T	1310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.826;DP=2180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.02;MQRankSum=1.04;QD=3.54;ReadPosRankSum=-1.254;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,64:370:99:1|0:1096322_C_A:1321,0,5847:1096322	5	0	1	0
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1471.7	119	chr11	1096594	.	C	A	1471.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.676;DP=748;ExcessHet=0;FS=4.448;MLEAC=1;MLEAF=0.1;MQ=54.4;MQRankSum=0.984;QD=12.37;ReadPosRankSum=1.76;SOR=0.634	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1481,0,1744	4	0	1	1
chr11	1096623	1096623	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8e-05	1.668e-05	1.299e-05	2.31e-05	0.0002	1.179e-05	1.006e-05	6.394e-05	4.153e-05	0	0	0.0005	0.0002	0	0.0002	4.23e-06	1.935e-05	0	0	2.108e-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	.	.	.	.	.	.	.	.	0.1	1235.7	97	chr11	1096623	.	C	A	1235.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.048;DP=725;ExcessHet=0;FS=5.372;MLEAC=1;MLEAF=0.1;MQ=53.75;MQRankSum=0.552;QD=12.74;ReadPosRankSum=-0.971;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,36:97:99:0|1:1096581_T_C:1245,0,2357:1096581	4	0	1	1
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	144.13	17	chr11	1096743	.	T	*	144.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.11;DP=170;ExcessHet=1.383;FS=45.978;MLEAC=1;MLEAF=0.1;MQ=49.86;MQRankSum=-0.637;QD=2.06;ReadPosRankSum=-1.294;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,4:17:99:0|1:1096735_G_A:129,0,528:1096735	4	0	1	1
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	.	.	.	.	.	.	.	.	0.1	77.75	16	chr11	1096749	.	C	G	77.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.39;DP=179;ExcessHet=0;FS=14.472;MLEAC=1;MLEAF=0.1;MQ=42.52;MQRankSum=-1.361;QD=4.86;ReadPosRankSum=-1.793;SOR=2.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,3:16:87:0|1:1096735_G_A:87,0,531:1096735	4	0	1	1
chr11	1097286	1097286	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0679471784489	.	.	.	.	.	.	.	.	.	.	9.06e-05	14	154602	.	5.594e-05	0.0002	6.037e-05	5.16e-05	0.0007	4.388e-05	4.013e-05	0.0005	0.0004	0.0007	0	0	9.006e-05	2.993e-05	0.0004	3.026e-05	0.0002	1.361e-05	0.0002	0.0004	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0002	0	0	0	0	5.48e-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	0.218133	0.343750	0.076667	0.103306	0.416667	0.173077	0.279279	0.209677	0.08333	78.83	166	chr11	1097286	.	C	T	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.376;DP=892;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.45;MQRankSum=0.626;QD=0.47;ReadPosRankSum=-2.134;SOR=0.613	GT:AD:DP:GQ:PL	0/1:144,22:166:89:89,0,3359	5	0	1	0
chr11	1097656	1097656	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402481326	7.139e-05	0.0003	7.012e-05	7.268e-05	0.0002	5.905e-05	5.44e-05	5.727e-05	5.217e-05	3.547e-05	2.957e-05	8.619e-05	3.205e-05	0.0002	0.0002	7.125e-05	0.0001	1.358e-05	0.0001	0.0004	0.0001	0.0001	0.0007	8.285e-05	6.64e-05	0.0001	6.151e-05	0	0	0	0	0.0003	0.0005	0	0.0002	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	874.83	165	chr11	1097656	.	G	A	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.229;DP=1172;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.083;MQ=50.67;MQRankSum=3.09;QD=5.3;ReadPosRankSum=0.269;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,38:165:99:0|1:1097656_G_A:885,0,4935:1097656	5	0	1	0
chr11	1097694	1097694	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.326e-06	6.199e-06	3.072e-06	1.565e-06	0.0002	6.2e-07	1.7e-07	.	.	3.398e-05	0	0	0	0	0.0002	1.001e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	160	chr11	1097694	.	C	G	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=1257;ExcessHet=0;FS=0.809;MLEAC=1;MLEAF=0.083;MQ=48.16;MQRankSum=2.53;QD=4.08;ReadPosRankSum=-1.529;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,29:160:99:0|1:1097656_G_A:663,0,5188:1097656	5	0	1	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	241.7	81	chr11	1098120	.	C	A	241.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.785;DP=563;ExcessHet=0;FS=1.656;MLEAC=1;MLEAF=0.1;MQ=35.45;MQRankSum=2.91;QD=2.98;ReadPosRankSum=-0.561;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,11:81:99:0|1:1098026_G_A:251,0,2889:1098026	4	0	1	1
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	219.9	74	chr11	1098124	.	C	T	219.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.835;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=34.53;MQRankSum=2.78;QD=2.97;ReadPosRankSum=-1.282;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,10:74:99:0|1:1098026_G_A:227,0,2640:1098026	2	0	1	3
chr11	1098596	1098596	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4e-05	2.395e-05	2.297e-05	2.505e-05	0.0002	1.712e-05	1.506e-05	1.062e-05	3.97e-06	6.413e-05	5.669e-05	0.0006	0	0	0.0002	8.42e-06	8.719e-05	0	2.319e-05	2.042e-05	1.502e-05	3.187e-05	7.758e-05	6.16e-06	2.71e-06	.	.	0	0	7.758e-05	0.0003	0	0	0	1.638e-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	.	.	.	.	.	.	.	.	0.08333	498.83	145	chr11	1098596	.	G	C	498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.567;DP=1535;ExcessHet=0;FS=8.785;MLEAC=1;MLEAF=0.083;MQ=47.35;MQRankSum=1.7;QD=3.44;ReadPosRankSum=2.98;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,38:145:99:0|1:1098596_G_C:509,0,2737:1098596	5	0	1	0
chr11	1098734	1098734	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.223e-06	1.716e-05	6.144e-06	6.305e-06	3.059e-05	2.68e-06	1.94e-06	.	.	0	3.059e-05	0.0002	0	0	0	9.901e-07	3.806e-05	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	.	.	.	.	.	.	.	.	0.08333	314.83	99	chr11	1098734	.	G	C	314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.558;DP=1008;ExcessHet=0;FS=8.389;MLEAC=1;MLEAF=0.083;MQ=38.83;MQRankSum=0.719;QD=3.18;ReadPosRankSum=-1.078;SOR=0.55	GT:AD:DP:GQ:PL	0/1:77,22:99:99:325,0,2716	5	0	1	0
chr11	1098815	1098815	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390418201	0.0005	0.0009	0.0005	0.0005	0.0024	0.0005	0.0005	0.0019	0.0017	0.0015	0.0011	0.0011	0.0024	0.0009	0.0008	0.0003	0.0007	0.0011	6.069e-05	0.0002	3.068e-05	9.004e-05	0.0001	2.016e-05	1.154e-05	2.534e-05	1.009e-05	0.0001	0	0	0	0	0	0	5.79e-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	.	.	.	.	.	.	.	.	0.08333	555.83	103	chr11	1098815	.	G	A	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.052;DP=919;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.78;MQRankSum=-0.362;QD=5.4;ReadPosRankSum=1.25;SOR=0.761	GT:AD:DP:GQ:PL	0/1:67,36:103:99:566,0,1451	5	0	1	0
chr11	1194532	1194532	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon35:c.G15052A:p.G5018S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.997e-05	0.0002	0	0	0	1.815e-05	0	0	1.29e-05	2	154602	rs752217127	2.128e-05	2.227e-05	2.164e-05	2.097e-05	0.0003	1.187e-05	9.14e-06	0.0001	7.173e-05	0.0003	4.587e-05	0	2.778e-05	8.013e-05	0.0002	2.867e-06	0	0	9.188e-05	9.185e-05	8.991e-05	9.395e-05	0.0002	5.521e-05	4.36e-05	0.0001	9.908e-05	0.0002	0	6.53e-05	0	0	0.0002	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.46928	.	.	.	.	.	.	.	0.38122946	0.54209	T	.	.	.	.	.	.	.	0.338110398507	0.33423	0.6199549918526429	0.61928	.	.	.	.	.	0.382621	0.74467	T	-0.291366	0.09499	T	-0.36616	0.37338	T	.	.	.	.	.	.	0.14839765	0.33881	0.3339079	0.59222	0.14839765	0.33881	0.3339079	0.59221	-8.252	0.62774	D	.	.	0.123	0.25785	B	.	.	4.205546	0.63499	24.6	0.80596278560226076	0.13278	0.98756	0.86450	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999783186851	0.74766	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.948442	0.61510	4.83	4.83	0.61880	5.073000	0.64223	9.748000	0.81461	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	18.184	0.89721	.	.	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1503.83	121	chr11	1194532	.	G	A	1503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.793;DP=331;ExcessHet=0;FS=2.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.029;SOR=0.962	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1514,0,1509	5	0	1	0
chr11	1231461	1231461	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon14:c.G1579A:p.V527M	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0435303294222	.	.	1.744e-05	0	0	0	0	1.579e-05	0	6.345e-05	1.29e-05	2	154602	rs754250371	7.536e-06	9.577e-06	6.816e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	9.26e-06	4.57e-06	0	2.242e-05	0	0	0	0.0002	4.498e-06	1.658e-05	3.485e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.44358	D	.	.	.	0.969	0.56768	D	0.379	0.43814	B	.	.	.	.	1	0.08975	N	1.42	0.35681	L	0.17	0.60485	T	-1.84	0.43149	N	0.169	0.17966	-0.8009	0.55092	T	0.212	0.57241	T	9	0.15442783	0.29130	T	0.04353	0.61028	D	0.118	0.32913	.	.	0.082315109003	0.07666	0.6195303757760012	0.61886	.	.	0.395898729563	0.24498	T	0.022742	0.17478	T	-0.238717	0.15513	T	-0.580677	0.14484	T	0.0807908693855277	0.10088	T	0.791921	0.43319	T	0.05749058	0.11447	0.10404642	0.24980	0.05749058	0.11446	0.10404642	0.24980	-5.905	0.45478	T	.	.	0.103	0.18289	B	.	.	1.978420	0.25134	16.65	0.59312441945559491	0.06195	0.01651	0.05302	N	AEFDBI	0.065097	0.12677	N	-0.600526210263336	0.18929	0.9867002	-0.875440941916954	0.12677	0.6535142	0.00122816160781802	0.08353	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.73	-4.67	0.03080	-1.114000	0.03404	-0.236000	0.10634	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4473:0.2475:0.3052:0.0	6.806	0.22963	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.08333	1369.83	100	chr11	1231461	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=303;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.466;SOR=0.699	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1380,0,1055	5	0	1	0
chr11	1241507	1241507	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C4627G:p.Q1543E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.024647069914	.	.	1.711e-05	0.0001	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs763955261	9.581e-06	9.577e-06	8.17e-06	1.101e-05	0.0003	5.56e-06	4.35e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0.0003	0	6.627e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.455	0.36767	L	2.35	0.16217	T	-1.13	0.29114	N	0.109	0.09490	-0.9372	0.43057	T	0.024	0.10103	T	9	0.07593781	0.11800	T	0.024647	0.47637	T	0.006	0.00375	.	.	0.110392049598	0.10638	0.9435101424908215	0.94333	.	.	0.292951345444	0.09354	T	0.013623	0.11750	T	-0.356061	0.04358	T	-0.749234	0.03516	T	0.0770029318427887	0.09600	T	0.278972	0.04839	T	0.06804908	0.14793	0.06676142	0.13721	0.06804908	0.14792	0.06676142	0.13720	-5.481	0.41690	T	.	.	0.089	0.12037	B	.	.	0.197812	0.05832	2.271	0.39014475308141483	0.02666	0.03982	0.09398	N	AEFBI	0.122943	0.23831	N	-1.21877269452662	0.04728	0.2139991	-1.35898842971619	0.03701	0.1731849	0.00479994157043053	0.10715	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.05	-7.14	0.01374	-2.509000	0.01036	-2.775000	0.03374	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5149:0.1382:0.2068:0.1401	2.600	0.04570	970	0.06235	WxxW 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	.	.	.	.	.	.	.	.	0.08333	1908.83	115	chr11	1241507	.	C	G	1908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.632;DP=362;ExcessHet=0;FS=0.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.05;SOR=0.614	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1919,0,1491	5	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	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	.	.	.	.	.	.	.	.	0.08333	4614.09	152	chr11	1243062	.	C	G	4614.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=884;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.78;MQRankSum=-0.015;QD=11.86;ReadPosRankSum=-0.887;SOR=0.673	GT:AD:DP:GQ:PL	0/1:76,76:152:99:2041,0,2133	5	0	1	0
chr11	1248534	1248534	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11654T:p.R3885L	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00351146321911	0.0011	0.00219649	0.0018	0.0079	0.0010	0.0001	0	0.0006	0.0011	0.0051	9.7e-05	15	154602	rs201915227	0.0010	0.0011	0.0009	0.0012	0.0081	0.0010	0.0010	0.0073	0.0070	0.0081	0.0012	0.0046	0.0003	0.0002	0.0030	0.0003	0.0020	0.0066	0.0028	0.0028	0.0026	0.0030	0.0079	0.0025	0.0025	0.0072	0.0069	0.0079	0	0.0018	0.0058	0.0002	0.0003	0	0.0003	0.0014	0.0046	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.64	0.27822	T	-1.22	0.30964	N	0.092	0.07125	-1.0378	0.17985	T	0.054	0.22770	T	9	0.0058083534	0.00130	T	0.003511	0.07969	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.25239203557179385	0.25153	.	.	0.190345525742	0.00231	T	0.021462	0.16706	T	-0.69051	0.00042	T	-0.759379	0.03135	T	0.00657624414947637	0.00073	T	0.20328	0.02343	T	0.045314126	0.07395	0.0661456	0.13507	0.045314126	0.07395	0.0661456	0.13506	1.136	0.00116	T	.	.	0.133	0.28750	B	.	.	-0.474655	0.01950	0.167	0.5472700598386504	0.05196	0.00168	0.00997	N	AEFI	0.034357	0.04242	N	-1.83466044309801	0.00466	0.02004353	-2.02050203566914	0.00277	0.01222917	0.160872933525117	0.17591	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-5.53	0.02351	-4.821000	0.00211	-9.891000	0.00764	-3.182000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1806:0.2765:0.3941:0.1488	2.791	0.05057	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	0.001063	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1973.83	163	chr11	1248534	.	G	T	1973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.281;DP=1185;ExcessHet=0;FS=1.961;MLEAC=1;MLEAF=0.083;MQ=53.6;MQRankSum=-2.887;QD=12.11;ReadPosRankSum=0.19;SOR=0.866	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1984,0,2343	5	0	1	0
chr11	1248954	1248954	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G12074A:p.R4025H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0025	0.00299521	0.0012	0.0152	0.0003	0.0003	0	8.98e-05	0.0023	0	0.0001035	16	154602	rs200048522	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0002	0	2.532e-05	3.832e-05	0.0002	2.529e-05	0.0008	3.49e-05	0.0030	0.0032	0.0032	0.0029	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0010	0	0.0004	0.0001	0	6.038e-05	0.0025	0	0.064	0.36509	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-0.55	0.16799	N	0.083	0.05929	-1.0408	0.17071	T	0.013	0.05177	T	9	0.005078286	0.00110	T	.	.	.	0.046	0.12618	.	.	0.0675242888579	0.06100	0.2798067637427281	0.27893	.	.	0.231693297625	0.02096	T	0.022235	0.17180	T	-0.697299	0.00038	T	-0.766437	0.02887	T	0.00126107770485364	0.00012	T	0.468753	0.13831	T	0.022274068	0.00879	0.03174005	0.01806	0.022274068	0.00879	0.03174005	0.01806	-4.916	0.35914	T	.	.	0.109	0.20972	B	.	.	1.039616	0.14203	10.78	0.92415920496928416	0.21832	0.00805	0.03273	N	AEFI	0.039468	0.05736	N	-1.5565683690123	0.01497	0.06534196	-1.65747898671653	0.01338	0.06037901	5.65100412413444E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.63	-2.95	0.05229	-2.611000	0.00959	-1.775000	0.04749	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1398:0.3187:0.4421:0.0994	4.219	0.10003	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	633.83	34	chr11	1248954	.	G	A	633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.324;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=30.19;MQRankSum=0.609;QD=18.64;ReadPosRankSum=0.721;SOR=0.495	GT:AD:DP:GQ:PL	0/1:12,22:34:99:644,0,285	5	0	1	0
chr11	2588839	2588839	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon10:c.G1378A:p.G460S,KCNQ1:NM_181798:exon10:c.G997A:p.G333S	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	2	1517	3	0	0	3	0.000987817	.	.	.	77927	Cardiac_arrhythmia|not_provided|Long_QT_syndrome|Cardiovascular_phenotype|SUDDEN_INFANT_DEATH_SYNDROME	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.575	0.432087648641	7.7e-05	0.000199681	6.007e-05	0.0002	8.892e-05	0	0.0002	4.679e-05	0	0	5.17e-05	8	154602	rs199472783	3.151e-05	3.147e-05	2.726e-05	3.58e-05	0.0008	2.415e-05	2.16e-05	0.0003	0.0002	0.0004	8.951e-05	0	0	0	0.0008	9.893e-06	0.0002	1.161e-05	3.946e-05	3.939e-05	2.573e-05	5.382e-05	7.234e-05	1.717e-05	1.13e-05	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	4.412e-05	0	0	0.132	0.26519	T	0.244	0.28482	T	0.046	0.21875	B	0.007	0.12992	B	0.604964	0.05668	N	1.219870	1	0.08975	N	0.83	0.20963	L	-6.45	0.99697	D	-0.92	0.24676	N	0.674	0.68169	1.170	0.99957	D	0.909	0.96992	D	10	0.18666735	0.34142	T	0.432088	0.94001	D	0.575	0.82799	.	.	0.78078691102	0.77876	0.2682622852155854	0.26739	0.380274087306	0.39395	0.288948744535	0.08769	T	0.405366	0.76156	T	0.145455	0.68842	D	0.168131	0.81298	D	0.0155915124341846	0.00356	T	0.653935	0.26417	T	0.06535181	0.13958	0.052771866	0.08761	0.082167745	0.18915	0.061692037	0.11954	-5.799	0.44566	T	0.10052772737270556	0.07426	0.062	0.02342	B	.;.;.	.;.;.	0.463216	0.08328	5.079	0.76963536863074866	0.11680	0.01809	0.05637	N	AEFDBI	0.081750	0.16546	N	-1.32566014022103	0.03384	0.15108	-1.33139375714821	0.04030	0.1892418	1.0010640910923E-4	0.04910	0.676563	0.55306	0	0.573888	0.26702	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.28	-0.779	0.10419	-0.162000	0.10000	-1.419000	0.05484	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.142000	0.20019	0.4085:0.0:0.4133:0.1782	3.319	0.06629	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2002.83	184	chr11	2588839	.	G	A	2002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=367;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.502;SOR=0.786	GT:AD:DP:GQ:PL	0/1:103,81:184:99:2013,0,2454	5	0	1	0
chr11	2922183	2922183	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon7:c.A652G:p.I218V,SLC22A18:NM_001315501:exon9:c.A1201G:p.I401V,SLC22A18:NM_002555:exon9:c.A946G:p.I316V,SLC22A18:NM_183233:exon9:c.A946G:p.I316V	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00737868928907	.	0.000399361	0.0003	0	8.649e-05	0	0	4.528e-05	0	0.0022	0.0002781	43	154602	rs545010654	0.0001	0.0001	5.72e-05	0.0002	0.0016	9.674e-05	9.153e-05	0.0014	0.0013	0	0	7.654e-05	2.519e-05	0	0.0012	2.698e-06	0.0001	0.0016	5.913e-05	5.906e-05	5.141e-05	6.719e-05	0.0017	3.077e-05	2.21e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0	0	0	0.0017	1.0	0.19430	T	0.196	0.27943	T	0.021	0.21573	B	0.014	0.23361	B	0.086695	0.02411	N	1.983950	1	0.08975	N	0.665	0.16292	N	0.25	0.59449	T	0.23	0.04613	N	0.048	0.02861	-1.0215	0.23227	T	0.128	0.43605	T	10	0.0058738887	0.00131	T	0.007379	0.19576	T	0.046	0.12618	0.534	0.64293	0.330069100803	0.32608	0.13522968556899972	0.13446	0.140831543526	0.15890	0.285464346409	0.08265	T	0.023315	0.17820	T	-0.615686	0.00117	T	-0.66443	0.07971	T	0.00861825476631836	0.00105	T	0.613939	0.24053	T	0.04369305	0.06855	0.023412595	0.00355	0.04369305	0.06854	0.023412595	0.00355	-3.309	0.13853	T	.	.	0.073	0.04558	B	.;.;.;.;.	.;.;.;.;.	-0.937597	0.00865	0.031	0.22042887522865393	0.00868	0.00611	0.02712	N	AEFDBI	0.080293	0.16232	N	-1.43650535549894	0.02325	0.1025267	-1.55463046181991	0.01944	0.08874412	0.996464569381863	0.34764	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	-7.11	0.01389	-0.919000	0.04125	-2.014000	0.04344	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.2076:0.0:0.5366:0.2558	7.303	0.25603	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	479.83	47	chr11	2922183	.	A	G	479.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.244;DP=220;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.4;SOR=0.99	GT:AD:DP:GQ:PL	0/1:25,22:47:99:490,0,577	5	0	1	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	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	0.022659	0.015152	0.039402	0.023392	0.000000	0.043103	0.003049	0.003788	0.08333	2861.83	173	chr11	4821609	.	A	G	2861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.832;DP=345;ExcessHet=0;FS=5.643;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.598;SOR=0.389	GT:AD:DP:GQ:PL	0/1:68,105:173:99:2872,0,1862	5	0	1	0
chr11	5351894	5351894	A	C	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.A387C:p.R129S	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	0.0034	0.00419329	0.0018	0.0102	0.0018	0	0	0.0012	0.0033	0	0.0017464	270	154602	rs117284118	0.0011	0.0011	0.0011	0.0010	0.0091	0.0010	0.0010	0.0083	0.0080	0.0091	0.0028	0.0099	0	0	0.0071	0.0006	0.0027	3.479e-05	0.0036	0.0036	0.0036	0.0036	0.0092	0.0034	0.0033	0.0084	0.0081	0.0092	0	0.0060	0.0063	0	0	0.0102	0.0005	0.0047	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.165	0.28508	B	0.066	0.27432	B	0.001666	0.38326	N	0.108147	1	0.81001	D	3.175	0.88760	M	1.04	0.40218	T	-5.04	0.82638	D	0.692	0.69737	-0.7883	0.55828	T	0.087	0.33830	T	10	0.014189333	0.00299	T	.	.	.	0.244	0.55061	0.726	0.86024	0.59408574423	0.59086	0.12420604133629382	0.12346	0.00372882055333	0.00321	0.263294786215	0.05288	T	0.010923	0.09812	T	-0.315055	0.07310	T	-0.217369	0.52990	T	0.0883910156512836	0.11025	T	0.821518	0.48098	T	0.8130372	0.84755	0.64090115	0.79019	0.8130372	0.84756	0.64090115	0.79020	-7.751	0.59361	D	.	.	0.253	0.48807	B	.	.	2.052048	0.26091	16.99	0.9859649441228443	0.43440	0.23826	0.22200	N	AEFBI	0.430522	0.49319	N	-0.295459649641254	0.29323	1.625096	-0.327549446507444	0.27212	1.508418	0.0622267546413846	0.15257	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	3.89	0.44098	-1.547000	0.02290	.	.	0.752000	0.88150	0.000000	0.06391	0.000000	0.08366	0.925000	0.46118	0.8146:0.0:0.1854:0.0	7.294	0.25559	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	0.005035	0.015152	0.006793	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	1880.83	152	chr11	5351894	.	A	C	1880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.115;DP=687;ExcessHet=0;FS=1.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-2.48;SOR=0.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,72:152:99:0|1:5351884_G_A:1891,0,2285:5351884	5	0	1	0
chr11	5454179	5454179	C	T	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.C691T:p.R231C	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0075	0.00958466	0.0034	0.0223	0.0041	0	0	0.0019	0.0022	6.057e-05	0.0034088	527	154602	rs141274915	0.0020	0.0020	0.0020	0.0019	0.0201	0.0019	0.0019	0.0188	0.0183	0.0201	0.0053	0.0192	2.519e-05	1.872e-05	0.0116	0.0010	0.0046	0.0002	0.0081	0.0080	0.0080	0.0083	0.0211	0.0078	0.0076	0.0200	0.0195	0.0211	0	0.0123	0.0150	0	0	0.0240	0.0012	0.0097	0.0002	0.075	0.34444	T	0.106	0.37872	T	0.99	0.63424	D	0.659	0.52771	P	0.371354	0.13522	N	0.700913	1	0.08975	N	2.95	0.84923	M	8.68	0.00126	T	-3.6	0.69357	D	0.286	0.32370	-0.9564	0.39843	T	0.001	0.00188	T	10	0.0040298104	0.00078	T	.	.	.	0.053	0.14996	.	.	0.393006254552	0.38910	0.21156843737290196	0.21072	0.037006608582	0.03923	0.187465801835	0.00183	T	0.02065	0.16221	T	-0.624548	0.00103	T	-0.652977	0.08747	T	0.0440606739665563	0.04432	T	0.256474	0.04006	T	0.22042967	0.44598	0.25360674	0.51011	0.22042967	0.44598	0.25360674	0.51010	-7.5	0.57610	T	.	.	0.148	0.32804	B	.;.	.;.	3.747737	0.53700	23.4	0.99516631425288149	0.68979	0.10248	0.15807	N	AEFBHCI	0.087924	0.17826	N	-0.217801503256806	0.32403	1.827056	-0.424482124420231	0.24281	1.328776	0.969964654167469	0.29170	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	3.72	0.41857	-0.286000	0.08433	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.891000	0.42908	0.1442:0.6422:0.1391:0.0746	5.656	0.16918	696	0.58299	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	0.013595	0.055556	0.017663	0.011696	0.000000	0.000000	0.003049	0.000000	0.08333	3017.83	233	chr11	5454179	.	C	T	3017.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.46;DP=594;ExcessHet=0;FS=4.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.817;SOR=0.98	GT:AD:DP:GQ:PL	0/1:126,107:233:99:3028,0,3012	5	0	1	0
chr11	9575939	9575939	G	T	exonic	WEE1	.	nonsynonymous SNV	WEE1:NM_003390:exon2:c.G628T:p.G210C	.	437	1062	23	0	0	23	0.0107126	.	.	.	713266	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0066	0.00459265	0.0070	0.0011	0.0030	0	0.0074	0.0077	0.0088	0.0143	0.0067852	1049	154602	rs34412975	0.0072	0.0072	0.0069	0.0075	0.0153	0.0071	0.0070	0.0136	0.0133	0.0011	0.0043	0.0130	2.52e-05	0.0064	0.0153	0.0070	0.0069	0.0143	0.0057	0.0057	0.0059	0.0055	0.0116	0.0054	0.0053	0.0092	0.0083	0.0012	0.0231	0.0033	0.0164	0	0.0063	0.0102	0.0082	0.0052	0.0116	0.191	0.21066	T	0.22	0.25907	T	0.903	0.49795	P	0.681	0.53500	P	0.000002	0.62929	D	0.101421	0.994513	0.81001	D	1.78	0.46185	L	1.96	0.22270	T	-1.08	0.28084	N	0.362	0.40364	-1.1158	0.02615	T	0.057	0.23828	T	10	0.0043308735	0.00088	T	.	.	.	0.078	0.22779	.	.	0.0675242888579	0.06100	0.2271782905260268	0.22632	2.07924409164	0.94569	0.5069013834	0.39789	T	0.083822	0.37141	T	-0.448019	0.01160	T	-0.404648	0.32845	T	0.0373513126381702	0.03218	T	0.748625	0.36937	T	0.21849239	0.44358	0.1837827	0.41390	0.21849239	0.44358	0.1837827	0.41389	-4.961	0.36414	T	.	.	0.155	0.34205	B	.	.	3.479777	0.48587	22.6	0.99495896507757953	0.67744	0.88010	0.47755	D	AEFDGBHCI	0.761164	0.69896	D	0.253786138618904	0.53827	3.549979	0.199519800987861	0.49820	3.180831	0.999999999672803	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.25	3.34	0.37357	4.023000	0.56921	5.093000	0.47370	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0834:0.0:0.9166:0.0	12.312	0.54257	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	0	0	0	0	0	1	0	0.012085	0.000000	0.014946	0.008772	0.050000	0.000000	0.006098	0.022727	0.08333	1007.83	67	chr11	9575939	.	G	T	1007.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.239;DP=249;ExcessHet=0;FS=3.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.635;SOR=0.339	GT:AD:DP:GQ:PL	0/1:31,36:67:99:1018,0,799	5	0	1	0
chr11	18296116	18296116	A	G	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon12:c.T1175C:p.V392A,HPS5:NM_181508:exon12:c.T1175C:p.V392A,HPS5:NM_181507:exon13:c.T1517C:p.V506A	Hermansky-Pudlak syndrome 5	1	1520	1	0	0	1	0.000328839	.	.	.	1385621	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00908733472691	.	.	0.0001	0	0	0	0	4.507e-05	0	0.0006	9.06e-05	14	154602	rs754269779	8.555e-05	8.619e-05	4.903e-05	0.0001	0.0012	7.316e-05	6.819e-05	0.0010	0.0009	0	0	0	0	0	0.0002	7.198e-06	0.0002	0.0012	3.281e-05	3.28e-05	2.568e-05	4.026e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.332	0.13175	T	0.452	0.13215	T	0.005	0.12996	B	0.009	0.14300	B	0.445645	0.12572	N	0.690817	0.997743	0.22526	N	1.905	0.50856	L	0.52	0.55266	T	-0.67	0.19933	N	0.307	0.34659	-1.0933	0.05005	T	0.085	0.33241	T	10	0.02579701	0.00763	T	0.009087	0.23917	T	0.044	0.11924	0.122	0.02867	0.500868654924	0.49723	0.15856084757742578	0.15777	0.0664007650245	0.07407	0.39311388135	0.24108	T	0.097217	0.39981	T	-0.492158	0.00632	T	-0.54855	0.17466	T	0.0332657881081104	0.02515	T	0.537746	0.18100	T	0.021605503	0.00772	0.030259555	0.01460	0.021605503	0.00772	0.030259555	0.01459	-3.543	0.17153	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.858460	0.23606	16.08	0.91361038537194861	0.20625	0.95104	0.63452	D	AEFBI	0.145174	0.26832	N	-0.460065306149911	0.23401	1.256347	-0.274755272094978	0.28932	1.617038	0.194900097606013	0.18046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	2.96	0.33383	1.790000	0.38366	2.908000	0.35491	0.756000	0.94297	0.814000	0.29906	0.991000	0.31484	0.995000	0.73285	0.7903:0.0:0.2097:0.0	9.608	0.38810	611	0.66908	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.050000	0.000000	0.000000	0.007576	0.08333	911.83	80	chr11	18296116	.	A	G	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.41;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.451;SOR=0.713	GT:AD:DP:GQ:PL	0/1:45,35:80:99:922,0,1099	5	0	1	0
chr11	18743076	18743076	C	G	splicing	PTPN5	NM_006906:exon6:c.400-1G>C;NM_001039970:exon6:c.304-1G>C;NM_001278238:exon5:c.328-1G>C;NM_001278236:exon6:c.304-1G>C;NM_001278239:exon5:c.232-1G>C;NM_032781:exon6:c.400-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251585	0.78750	D	0.123608	0.78474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.913410	0.80858	27.4	0.99503721698714154	0.68206	0.94388	0.61006	D	AEFBI	.	.	.	0.902652147347685	0.91887	11.11847	0.703708665062503	0.82661	7.822438	0.752171779830863	0.23378	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.96363	0.67284	4.77	4.77	0.60425	4.190000	0.58162	7.629000	0.62648	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	14.512	0.67376	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	785.83	67	chr11	18743076	.	C	G	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.948;DP=250;ExcessHet=0;FS=0.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.038;SOR=0.913	GT:AD:DP:GQ:PL	0/1:37,30:67:99:796,0,1045	5	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T,ELP4:NM_001288725:exon11:c.G1323C:p.E441D	.	422	1070	30	0	0	30	0.0138249	.	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.005051	0.004076	0.014620	0.000000	0.017241	0.012195	0.018939	0.1667	1876.04	58	chr11	31783430	.	G	C	1876.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.35;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1896,174,0	5	1	0	0
chr11	45224290	45224290	T	A	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon7:c.T816A:p.H272Q,PRDM11:NM_001256696:exon7:c.T816A:p.H272Q,PRDM11:NM_001384648:exon7:c.T816A:p.H272Q,PRDM11:NM_001359633:exon8:c.T816A:p.H272Q	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0061	0.00379393	0.0015	0.0171	0.0004	0	0	3.008e-05	0	0	0.0013777	213	154602	rs115143919	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0005	0	0	0	0.0005	1.799e-06	0.0009	8.118e-05	0.0044	0.0044	0.0045	0.0043	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0019	0	0	0	0	2.94e-05	0.0033	0	0.975	0.02030	T	0.5	0.11190	T	0.0	0.02946	B	0.001	0.04355	B	0.634487	0.10656	N	0.830577	1	0.08975	N	-0.69	0.01958	N	0.92	0.44461	T	-0.16	0.09460	N	0.056	0.02759	-1.0195	0.23877	T	0.017	0.06950	T	10	0.0027053952	0.00042	T	.	.	.	0.024	0.04979	0.343	0.33626	0.043077524339	0.03247	0.14783749452222678	0.14705	0.357644618357	0.37474	0.306032061577	0.11308	T	0.013802	0.11871	T	-0.740942	0.00020	T	-0.824115	0.01371	T	0.00127358545716466	0.00013	T	0.525647	0.17278	T	0.04269363	0.06520	0.04864536	0.07268	0.04269363	0.06520	0.04864536	0.07268	-1.898	0.03258	T	.	.	0.073	0.10835	B	.;.;.	.;.;.	0.487736	0.08571	5.336	0.69152260471539462	0.08881	0.05983	0.11944	N	AEFBI	0.030625	0.03118	N	-1.28272869235754	0.03883	0.1742861	-1.20735476006906	0.05791	0.2769173	0.170520924766835	0.17729	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.58	-3.07	0.05038	-0.235000	0.09031	0.111000	0.14782	-0.153000	0.12021	0.075000	0.22209	0.868000	0.27561	0.990000	0.65344	0.1145:0.287:0.2318:0.3666	2.883	0.05304	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	4343.04	132	chr11	45224290	.	T	A	4343.04	.	AC=2;AF=0.167;AN=12;DP=315;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.9;SOR=1.119	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4363,396,0	5	1	0	0
chr11	47349898	47349898	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.G530A:p.R177H	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	51937	Left_ventricular_noncompaction_10|hyprtrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4|Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|.|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.390	.	0.0034	0.00299521	0.0009	0.0126	0.0004	0	0	7.294e-05	0	0	0.0008473	131	154602	rs201012766	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0006	0	5.065e-05	3.795e-05	0	2.613e-05	0.0006	4.694e-05	0.0037	0.0037	0.0041	0.0033	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0011	0	0	0	0	5.883e-05	0.0014	0	0.005	0.65419	D	0.004	0.74150	D	0.889	0.48869	P	0.633	0.51840	P	.	.	.	.	0.982084	0.24990	N	1.445	0.36358	L	-0.28	0.67543	T	-2.82	0.59545	D	0.782	0.77883	-0.8549	0.51627	T	0.204	0.56238	T	9	0.015560389	0.00327	T	.	.	.	0.390	0.70603	.	.	0.880036483968	0.87886	0.6288740226593559	0.62820	0.279544546936	0.30444	0.372922211885	0.21250	T	0.588716	0.86643	D	-0.226428	0.17122	T	-0.0863479	0.64436	T	0.0946443802522424	0.11757	T	0.89481	0.63428	D	0.22860953	0.45583	0.25742054	0.51458	0.19593479	0.41400	0.23412961	0.48621	-8.707	0.65791	D	0.5609166292665378	0.62869	0.242	0.57317	B	.;.;.	.;.;.	3.819980	0.55149	23.6	0.99910323166999659	0.98022	0.28594	0.23596	N	AEFDGBI	0.511273	0.53997	D	0.112933676544201	0.47066	2.937531	0.0707150244881325	0.43085	2.617537	0.996065931217963	0.34501	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.8	2.88	0.32617	1.300000	0.33040	3.269000	0.37146	0.599000	0.40250	0.804000	0.29773	0.998000	0.33993	0.245000	0.23132	0.1512:0.62:0.0:0.2288	5.886	0.18129	18	0.98631	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	0.001009	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	2457.04	79	chr11	47349898	.	C	T	2457.04	.	AC=2;AF=0.167;AN=12;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.1;SOR=0.824	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2477,237,0	5	1	0	0
chr11	48145065	48145065	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon14:c.C2852T:p.A951V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0040	0.00319489	0.0011	0.0118	0.0003	0	0	2.997e-05	0	0	0.0009638	149	154602	rs61738506	0.0004	0.0004	0.0004	0.0003	0.0142	0.0003	0.0003	0.0132	0.0128	0.0142	0.0005	0	0	0	0	6.295e-06	0.0006	2.319e-05	0.0039	0.0039	0.0044	0.0034	0.0138	0.0037	0.0036	0.0128	0.0125	0.0138	0	0.0011	0	0	0	0	5.88e-05	0.0024	0	0.212	0.19500	T	0.337	0.20486	T	0.514	0.37393	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	1.735	0.44892	L	2.54	0.13916	T	-1.15	0.29525	N	0.166	0.17691	-1.0274	0.21299	T	0.019	0.07893	T	9	0.0046988726	0.00099	T	.	.	.	0.077	0.22490	.	.	0.282179105231	0.27821	0.27758756153896597	0.27671	0.320752863791	0.34277	0.311013132334	0.12060	T	0.080311	0.46609	T	-0.670203	0.00055	T	-0.7238	0.04614	T	0.0122571640825585	0.00198	T	0.846715	0.52677	T	0.029526496	0.02461	0.076916374	0.17085	0.03403723	0.03743	0.098585755	0.23508	-1.822	0.02576	T	.	.	0.084	0.16275	B	.;.;.	.;.;.	1.379146	0.17904	13.44	0.97008922955707733	0.31977	0.04030	0.09467	N	AEFGBI	0.039640	0.05785	N	-0.684666819486773	0.16459	0.8387188	-0.753159145433334	0.15645	0.8238447	0.888317977692144	0.25785	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	-0.491	0.11444	0.491000	0.22128	.	.	0.599000	0.40250	0.000000	0.06391	0.003000	0.18671	0.330000	0.25202	0.7205:0.2795:0.0:0.0	13.290	0.59701	137	0.94565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	2561.04	77	chr11	48145065	.	C	T	2561.04	.	AC=2;AF=0.167;AN=12;DP=272;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.26;SOR=1.55	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2581,231,0	5	1	0	0
chr11	50033596	50033596	T	G	exonic	OR4C45	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343933157	0.0003	0.0003	0.0004	0.0003	0.0139	0.0003	0.0003	0.0127	0.0122	0.0139	0.0002	0	0	0	0	6.758e-06	0.0004	2.664e-05	0.0038	0.0038	0.0043	0.0032	0.0133	0.0035	0.0034	0.0124	0.0120	0.0133	0	0.0009	0	0	0	0	2.94e-05	0.0019	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	.	.	.	.	.	.	.	.	0.1667	5619.04	183	chr11	50033596	.	T	G	5619.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=393;ExcessHet=0;FS=3.932;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=30.71;ReadPosRankSum=1.39;SOR=0.9	GT:AD:DP:GQ:PL	1/1:1,182:183:99:5639,539,0	5	1	0	0
chr11	55368803	55368803	C	T	exonic	OR4A15	.	nonsynonymous SNV	OR4A15:NM_001005275:exon1:c.C920T:p.T307I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0042	0.00279553	0.0010	0.0114	0.0003	0	0.0002	2.998e-05	0	0	0.0009638	149	154602	rs61753622	0.0004	0.0004	0.0004	0.0003	0.0137	0.0003	0.0003	0.0127	0.0123	0.0137	0.0004	0	0	7.489e-05	0	7.198e-06	0.0006	3.479e-05	0.0039	0.0039	0.0044	0.0033	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0009	0	0	0	0	4.412e-05	0.0024	0	0.012	0.54683	D	0.004	0.74150	D	0.868	0.47740	P	0.708	0.54437	P	0.000087	0.51296	D	0.000000	1	0.08975	N	1.275	0.32135	L	1.19	0.37578	T	-5.31	0.84457	D	0.084	0.06059	-1.0105	0.26760	T	0.098	0.36574	T	10	0.009031892	0.00204	T	.	.	.	0.085	0.24743	.	.	0.350088858571	0.34617	0.09026407693733736	0.08959	.	.	0.217132538557	0.01151	T	0.139232	0.47315	T	-0.559457	0.00256	T	-0.564721	0.15936	T	0.0777447052689313	0.09695	T	0.768523	0.39806	T	0.44690305	0.63845	0.37814683	0.62898	0.44690305	0.63846	0.37814683	0.62898	-4.954	0.36336	T	.	.	0.200	0.43088	B	.;.	.;.	2.437991	0.31376	18.72	0.99479119864476873	0.66795	0.02154	0.06332	N	AEFI	0.031094	0.03254	N	-0.194482845817599	0.33364	1.891991	-0.360690148181522	0.26180	1.444383	7.58558696241322E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.65	3.65	0.40985	-0.444000	0.06926	-6.642000	0.01344	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.122000	0.19250	0.0:1.0:0.0:0.0	12.916	0.57601	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	3472.04	106	chr11	55368803	.	C	T	3472.04	.	AC=2;AF=0.167;AN=12;DP=293;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.76;SOR=1.036	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3492,318,0	5	1	0	0
chr11	56543152	56543152	G	C	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.C106G:p.L36V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0047	0.00259585	0.0012	0.0136	0.0003	0	0	4.496e-05	0.0011	0	0.0010867	168	154602	rs144325910	0.0004	0.0004	0.0005	0.0004	0.0154	0.0004	0.0004	0.0143	0.0138	0.0154	0.0004	0	0	0	0.0007	8.994e-06	0.0009	4.637e-05	0.0044	0.0044	0.0050	0.0038	0.0154	0.0041	0.0040	0.0144	0.0140	0.0154	0	0.0012	0	0	0	0	5.882e-05	0.0038	0	0.163	0.23450	T	0.364	0.16766	T	0.025	0.19245	B	0.019	0.18783	B	.	.	.	.	0.996138	0.23105	N	1.435	0.35949	L	3.49	0.05071	T	-1.42	0.34992	N	0.098	0.07949	-0.9748	0.36170	T	0.013	0.04938	T	9	0.005463153	0.00120	T	.	.	.	0.013	0.01715	.	.	0.346315397577	0.34243	0.03869542253293226	0.03815	0.0272181327849	0.02780	0.227377802134	0.01779	T	0.003251	0.02657	T	-0.689478	0.00042	T	-0.749538	0.03504	T	0.00645799230009756	0.00072	T	0.113289	0.00862	T	0.08939056	0.20885	0.085665606	0.19794	0.08939056	0.20885	0.085665606	0.19793	-4.62	0.32422	T	.	.	0.084	0.09627	B	.	.	0.871558	0.12444	8.978	0.82413021465020297	0.14179	0.09150	0.14963	N	AEFI	0.068166	0.13435	N	-0.736657197324481	0.14997	0.7520112	-0.747178259475586	0.15792	0.8322856	2.49653056423704E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	1.89	0.24700	-2.260000	0.01259	.	.	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0832:0.0:0.5468:0.37	7.758	0.28101	296	0.88164	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	3049.04	98	chr11	56543152	.	G	C	3049.04	.	AC=2;AF=0.167;AN=12;DP=295;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.11;SOR=1.493	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3069,294,0	5	1	0	0
chr11	56613453	56613453	A	T	exonic	OR5M1	.	nonsynonymous SNV	OR5M1:NM_001004740:exon2:c.T50A:p.L17Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0078	0.0071885	0.0023	0.0265	0.0007	0	0	5.999e-05	0.0011	0	0.0021345	330	154602	rs115296663	0.0008	0.0008	0.0009	0.0007	0.0294	0.0007	0.0007	0.0279	0.0273	0.0294	0.0011	0	0	0	0.0010	1.619e-05	0.0014	4.638e-05	0.0077	0.0078	0.0084	0.0070	0.0269	0.0073	0.0072	0.0256	0.0250	0.0269	0	0.0025	0	0	0	0.0034	7.35e-05	0.0066	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.972	0.72692	D	0.003361	0.35041	N	0.000000	0.882	0.35764	D	4.105	0.97342	H	4.92	0.01404	T	-5.06	0.82764	D	0.738	0.73826	-1.0719	0.09001	T	0.012	0.04558	T	10	0.0071101487	0.00162	T	.	.	.	0.155	0.40530	.	.	0.552739949602	0.54932	0.26074599952137395	0.25988	0.444243628608	0.44339	0.266186505556	0.05650	T	0.034867	0.23493	T	-0.464616	0.00919	T	-0.419215	0.31164	T	0.0850660220412542	0.10621	T	0.963704	0.86510	D	0.67380166	0.76636	0.7085695	0.82813	0.67380166	0.76638	0.7085695	0.82814	-11.612	0.82910	D	.	.	0.560	0.67230	A	.;.	.;.	3.916580	0.57146	23.8	0.99509055084516018	0.68499	0.96178	0.67892	D	AEFGI	0.415157	0.48413	N	0.666512630899393	0.77442	6.675279	0.503150271394248	0.68201	5.187601	0.0523917929373663	0.14905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.71	3.71	0.41733	3.988000	0.56662	.	.	0.333000	0.19617	0.893000	0.31264	0.450000	0.24948	0.152000	0.20376	1.0:0.0:0.0:0.0	11.486	0.49602	306	0.87689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003563	0.000000	0.006849	0.000000	0.000000	0.008772	0.000000	0.000000	0.1667	4255.04	127	chr11	56613453	.	A	T	4255.04	.	AC=2;AF=0.167;AN=12;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.61;QD=33.5;SOR=1.972	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4275,381,0	5	1	0	0
chr11	57310168	57310168	T	C	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.A2543G:p.K848R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00259585	0.0012	0.0130	0.0006	0	0	2.997e-05	0.0011	0	0.0010931	169	154602	rs36049032	0.0004	0.0004	0.0005	0.0003	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0007	0	0	0	0	7.194e-06	0.0007	3.478e-05	0.0044	0.0044	0.0049	0.0039	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0017	0	0	0	0	4.41e-05	0.0038	0	0.066	0.36113	T	0.302	0.20228	T	0.002	0.09854	B	0.006	0.12133	B	0.577323	0.11177	N	0.761784	0.999939	0.19363	N	0.375	0.12094	N	1.15	0.38236	T	-0.5	0.15782	N	0.133	0.12913	-1.0265	0.21593	T	0.045	0.19316	T	10	0.0041438937	0.00082	T	.	.	.	0.025	0.05312	.	.	0.286465849087	0.28247	0.0574825562995005	0.05689	0.0650178447272	0.07263	0.371645569801	0.21067	T	0.036091	0.23970	T	-0.61119	0.00125	T	-0.637083	0.09883	T	0.00245889338744844	0.00026	T	0.587441	0.21519	T	0.08768064	0.20425	0.054769456	0.09482	0.08768064	0.20425	0.054769456	0.09482	-5.907	0.45495	T	.	.	0.099	0.16582	B	.;.;.	.;.;.	1.210656	0.16035	12.27	0.96682516245933037	0.30704	0.22421	0.21740	N	AEFDBCI	0.057178	0.10630	N	-0.876765042488106	0.11397	0.5497708	-0.895243826198903	0.12206	0.6265201	0.999952542015477	0.48110	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.17	-2.23	0.06539	0.005000	0.13029	0.373000	0.17698	-0.186000	0.09761	0.030000	0.20431	0.409000	0.24749	0.979000	0.57723	0.0:0.3084:0.2657:0.4258	5.388	0.15529	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	6115.04	184	chr11	57310168	.	T	C	6115.04	.	AC=2;AF=0.167;AN=12;DP=384;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.23;SOR=0.855	GT:AD:DP:GQ:PL	1/1:0,184:184:99:6135,552,0	5	1	0	0
chr11	57426015	57426015	G	A	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon3:c.C158T:p.P53L,SLC43A3:NM_001278206:exon3:c.C158T:p.P53L,SLC43A3:NM_014096:exon3:c.C158T:p.P53L,SLC43A3:NM_017611:exon3:c.C158T:p.P53L,SLC43A3:NM_199329:exon3:c.C158T:p.P53L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0052	0.00339457	0.0013	0.0142	0.0006	0	0	4.507e-05	0.0022	0	0.0012354	191	154602	rs34799622	0.0005	0.0005	0.0006	0.0004	0.0165	0.0004	0.0004	0.0154	0.0149	0.0165	0.0008	0	0	0	0.0009	1.619e-05	0.0010	9.275e-05	0.0048	0.0048	0.0054	0.0042	0.0166	0.0045	0.0044	0.0155	0.0151	0.0166	0	0.0020	0	0	0	0	5.879e-05	0.0057	0	0.73	0.22920	T	0.626	0.24840	T	0.0	0.02946	B	0.0	0.01387	B	0.000631	0.00653	N	3.372100	1	0.08975	N	-1.275	0.00739	N	1.05	0.52642	T	0.78	0.07736	N	0.036	0.01999	-1.0132	0.25912	T	0.027	0.11485	T	10	0.0035474002	0.00064	T	.	.	.	0.060	0.17295	.	.	0.0482279557977	0.04254	0.1953888214398922	0.19455	0.111031550445	0.12528	0.245650500059	0.03323	T	0.006395	0.10748	T	-0.60985	0.00127	T	-0.634504	0.10075	T	0.00677236000485767	0.00076	T	0.605339	0.24427	T	0.020670343	0.00635	0.025885526	0.00650	0.020670343	0.00634	0.025885526	0.00650	-3.814	0.23428	T	.	.	0.059	0.04932	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.378592	0.00376	0.007	0.7824373240786664	0.12217	0.02005	0.06038	N	ALL	0.085264	0.17283	N	-1.97309081753179	0.00241	0.01035084	-2.0220180493842	0.00275	0.0121394	1.0	0.98316	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	5.24	-10.5	0.00234	-3.818000	0.00403	-2.619000	0.03542	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.2272:0.0:0.5204:0.2524	10.834	0.45881	132	0.94697	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	2201.04	70	chr11	57426015	.	G	A	2201.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.33;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=31.44;ReadPosRankSum=-0.6;SOR=1.179	GT:AD:DP:GQ:PL	1/1:2,68:70:99:2221,160,0	5	1	0	0
chr11	60201640	60201640	G	A	exonic	MS4A4E	.	nonsynonymous SNV	MS4A4E:NM_001351235:exon6:c.C518T:p.P173L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	.	0.00758786	0.0022	0.0308	0	0	.	0.0026	0	0	0.0006339	98	154602	rs186135156	0.0042	0.0023	0.0047	0.0039	0.0187	0.0039	0.0038	0.0137	0.0120	0.0187	0.0024	0.0003	0	0.0010	0	0.0065	0.0041	0.0003	0.0096	0.0096	0.0105	0.0087	0.0215	0.0092	0.0091	0.0204	0.0199	0.0215	0	0.0047	0	0	0.0006	0	0.0070	0.0076	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	37.98	2	chr11	60201640	.	G	A	37.98	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.99;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	2
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	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,18:77:99:0|1:61740527_G_C:196,0,1814:61740527	1	0	5	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,17:76:99:0|1:61740527_G_C:189,0,1817:61740527	0	0	6	0
chr11	63839542	63839542	C	G	exonic	MARK2	.	nonsynonymous SNV	MARK2:NM_001039469:exon1:c.C36G:p.N12K,MARK2:NM_001163296:exon1:c.C36G:p.N12K,MARK2:NM_001163297:exon1:c.C36G:p.N12K,MARK2:NM_004954:exon1:c.C36G:p.N12K	.	420	1100	1	1	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.461452294186	.	0.000599042	0.0008	0	0	0	0	0	0	0.0019	0.0001617	25	154602	rs529371529	8.226e-05	8.551e-05	3.846e-05	0.0001	0.0014	6.961e-05	6.478e-05	0.0012	0.0011	0	0	0	0	0	0.0004	2.796e-06	1.737e-05	0.0014	6.578e-05	6.562e-05	5.147e-05	8.074e-05	0.0019	3.52e-05	2.619e-05	0.0010	0.0007	0	0	0	0	0	0	0.0034	0	0	0.0019	0.002	0.72154	D	0.257	0.24406	T	0.286	0.35858	B	0.166	0.41496	B	0.760047	0.09630	U	0.823295	1	0.81001	D	0	0.06538	N	-0.52	0.70717	T	-2.42	0.62747	N	0.233	0.28498	-0.5613	0.66354	T	0.342	0.70794	T	10	0.023682594	0.00627	T	0.461452	0.94520	D	0.206	0.49396	0.293	0.25560	0.71097898834	0.70845	0.40381041218551467	0.40297	1.64019717428	0.89359	0.8857421875	0.94719	D	0.673312	0.90328	D	-0.413749	0.01878	T	-0.407631	0.32499	T	0.17080195497718	0.18634	T	0.978702	0.92553	D	0.34565607	0.56726	0.30236587	0.56269	0.34565607	0.56727	0.30236587	0.56268	-2.777	0.08416	T	.	.	0.456	0.62523	A	.;.;.;.;.	.;.;.;.;.	4.321986	0.66157	24.9	0.97996967733954765	0.37446	0.43157	0.27036	N	AEFDGBHCI	0.387173	0.46726	N	-0.187548935204105	0.33651	1.91165	-0.220096023934008	0.30815	1.738397	0.999999845723428	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.627883	0.49187	0	.	.	3.56	1.6	0.22686	2.665000	0.46456	2.574000	0.33380	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.7147:0.1791:0.1062	6.758	0.22713	706	0.57215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	939.04	31	chr11	63839542	.	C	G	939.04	.	AC=2;AF=0.167;AN=12;DP=200;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.29;SOR=1.214	GT:AD:DP:GQ:PL	1/1:0,31:31:93:959,93,0	5	1	0	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2868.04	86	chr11	65172786	.	C	T	2868.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.35;SOR=0.74	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2888,258,0	5	1	0	0
chr11	67240269	67240269	C	G	exonic	KDM2A	.	nonsynonymous SNV	KDM2A:NM_001256405:exon1:c.C62G:p.S21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0482242347532	.	.	9.297e-05	0	0	0	.	0	0	0.0001	6.5e-06	1	154602	rs772480573	3.614e-06	3.42e-06	0	7.325e-06	5.048e-05	1.06e-06	7.7e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	1.727e-05	5.048e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.041	0.41915	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.71	0.26737	T	-0.2	0.10136	N	0.157	0.16308	-1.0217	0.23162	T	0.104	0.38144	T	6	0.1258936	0.23929	T	0.048224	0.63278	D	0.025	0.05312	0.248	0.18447	0.371018649785	0.36716	.	.	.	.	.	.	.	.	.	.	-0.419809	0.01715	T	-0.604135	0.12465	T	0.257844686508179	0.23220	T	0.358764	0.08201	T	.	.	.	.	.	.	.	.	-4.803	0.34627	T	.	.	0.089	0.12132	B	.	.	2.596526	0.33695	19.42	0.94233308852165909	0.24492	0.80265	0.39948	D	AEFGBHCIJ	0.238971	0.36101	N	0.206614634714191	0.51517	3.332494	0.240055129832247	0.52085	3.385881	0.999999999999976	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.56214	0.19341	0	.	.	4.93	4.02	0.45968	1.911000	0.39567	5.690000	0.49333	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:0.8992:0.0:0.1008	8.948	0.34932	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3571.04	112	chr11	67240269	.	C	G	3571.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.88;SOR=0.844	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3591,336,0	5	1	0	0
chr11	67421155	67421155	T	G	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon8:c.T1193G:p.V398G,CARNS1:NM_001166222:exon9:c.T1562G:p.V521G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.590197494278	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs757456171	2.238e-06	2.736e-06	0	4.535e-06	4e-05	6e-07	1.7e-07	1.062e-05	4.95e-06	0	0	0	0	0	0	0	0	4e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.005	0.72224	D	0.1	0.25713	B	0.036	0.22909	B	.	.	.	.	1	0.81001	D	0.805	0.20218	L	1.32	0.35775	T	-4.12	0.75058	D	0.603	0.63204	-1.0508	0.14175	T	0.068	0.27811	T	9	0.7842231	0.78109	D	0.590197	0.96357	D	0.337	0.65913	0.764	0.89213	0.282575091529	0.27877	0.45050288099680696	0.44968	0.217465092309	0.24265	0.835216522217	0.87363	D	0.305898	0.67813	T	-0.0434978	0.45427	T	-0.0405789	0.67663	D	0.129738888395683	0.15358	T	0.558444	0.19458	T	0.5420293	0.69510	0.54214525	0.73537	0.5420293	0.69511	0.54214525	0.73537	-16.767	0.98838	D	.	.	0.722	0.73880	P	.;.;.	.;.;.	3.821149	0.55171	23.6	0.92017357714123305	0.21354	0.85214	0.44327	D	ALL	0.535942	0.55436	D	-0.291224770397675	0.29485	1.635581	-0.194122418661459	0.31753	1.799895	1.0	0.98316	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.07	4.07	0.46726	4.066000	0.57236	5.837000	0.50214	0.494000	0.22454	1.000000	0.71638	1.000000	0.68203	0.401000	0.26804	0.0:0.0:0.0:1.0	12.002	0.52524	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1554.07	47	chr11	67421155	.	T	G	1554.07	.	AC=2;AF=0.167;AN=12;DP=122;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.07;SOR=1.251	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1574,141,0	5	1	0	0
chr11	74859275	74859275	C	G	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378158:exon11:c.G1053C:p.K351N,XRRA1:NM_001378157:exon12:c.G1053C:p.K351N,XRRA1:NM_182969:exon12:c.G1029C:p.K343N	.	432	1084	6	0	0	6	0.00275989	.	.	.	3349698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0217557561551	0.0005	0.000199681	0.0004	0.0003	0.0017	0	0	0.0004	0	0.0002	0.0003169	49	154602	rs201462193	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0015	0.0002	0.0008	0	0	1.882e-05	0.0030	0.0004	0.0006	0.0001	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0005	0	0.0005	0	0.0002	0	0.0068	0.0003	0	0	0.018	0.50676	D	0.144	0.33109	T	0.907	0.50062	P	0.527	0.48453	P	.	.	.	.	1	0.81001	D	2.35	0.67516	M	0.65	0.52642	T	-0.94	0.25118	N	0.566	0.58968	-1.0141	0.25625	T	0.112	0.40145	T	9	0.08507621	0.14325	T	0.021756	0.44572	T	0.067	0.19503	0.377	0.39156	0.629112818682	0.62608	0.40836516806321943	0.40752	0.320062924988	0.34217	0.582717418671	0.50467	T	0.001751	0.01176	T	-0.406682	0.02092	T	-0.434935	0.29377	T	0.0369131677747777	0.03140	T	0.59504	0.22051	T	0.11173239	0.26400	0.0761229	0.16827	0.11173239	0.26400	0.0761229	0.16827	-3.977	0.23458	T	.	.	0.332	0.55355	B	.	.	2.934371	0.38996	20.9	0.99800331964780542	0.88550	0.59075	0.30815	D	AEFBI	0.104419	0.20894	N	0.137872459576353	0.48237	3.038653	0.136783229314495	0.46445	2.890414	0.733482511538175	0.23090	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.97	1.41	0.21461	0.505000	0.22352	1.096000	0.24025	0.599000	0.40250	0.993000	0.37899	0.995000	0.32472	0.986000	0.61781	0.0:0.4624:0.1935:0.3442	3.548	0.07391	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.015152	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	1927.04	61	chr11	74859275	.	C	G	1927.04	.	AC=2;AF=0.167;AN=12;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.59;SOR=1.292	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1947,183,0	5	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	67.79	64	chr11	76795628	.	CCTG	C	67.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.992;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.141;SOR=0.804	GT:AD:DP:GQ:PL	0/1:58,6:64:78:78,0,2415	5	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	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	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.08333	1952.83	179	chr11	96384356	.	C	T	1952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.443;DP=368;ExcessHet=0;FS=2.677;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.036;SOR=0.491	GT:AD:DP:GQ:PL	0/1:108,71:179:99:1963,0,2569	5	0	1	0
chr11	103479095	103479095	G	C	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon89:c.G12766C:p.D4256H,DYNC2H1:NM_001080463:exon90:c.G12787C:p.D4263H	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	1	1520	1	0	0	1	0.000328839	0.5384	0.588	.	492654	not_provided|Jeune_thoracic_dystrophy|Asphyxiating_thoracic_dystrophy_3	MedGen:C3661900|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0170763691293	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772516163	4.79e-06	4.788e-06	5.447e-06	4.127e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	8.961e-05	0	0	0	0	0.0007	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.012	0.91255	D	0.033	0.53072	D	0.248	0.68779	B	0.601	0.71005	P	0.870741	0.08827	N	0.943532	0.837223	0.35009	D	2.34	0.67151	M	3.09	0.08371	T	-3.44	0.75537	D	0.125	0.23632	-1.0857	0.06281	T	0.055	0.23300	T	9	0.1868729	0.34172	T	0.017076	0.38630	T	0.125	0.34456	0.48	0.55983	0.477994580393	0.47429	0.3398666242261746	0.33899	0.0745681638047	0.08366	0.293778598309	0.09476	T	0.270299	0.64255	T	-0.213687	0.18864	T	-0.544723	0.17836	T	0.44863704959715	0.30747	T	0.835616	0.51702	T	0.11633855	0.27441	0.16834587	0.38787	0.11633855	0.27441	0.16834587	0.38786	-4.535	0.34973	T	0.3420544577288403	0.43975	0.166	0.39949	B	.;.;.;.;.;.	.;.;.;.;.;.	3.343639	0.46082	22.2	0.75570369137493587	0.11126	0.86888	0.46270	D	AEFDHI	0.285361	0.39800	N	0.00861585994484434	0.42246	2.541855	-0.0470962480641454	0.37616	2.204896	0.00723208233908268	0.11417	0.743674	0.98306	0	0.573888	0.26702	0	0.630245	0.45026	0	0.567892	0.33627	0	.	.	4.8	3.89	0.44098	2.080000	0.41211	.	.	0.618000	0.50648	0.999000	0.42656	0.999000	0.35428	0.009000	0.08673	0.1602:0.1478:0.692:0.0	6.611	0.21948	860	0.33753	Dynein heavy chain domain;.;Dynein heavy chain domain;.;.;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	950.83	55	chr11	103479095	.	G	C	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.219;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-1.077;SOR=0.706	GT:AD:DP:GQ:PL	0/1:20,35:55:99:961,0,497	5	0	1	0
chr11	104163839	104163839	A	G	exonic	PDGFD	.	nonsynonymous SNV	PDGFD:NM_025208:exon1:c.T89C:p.I30T,PDGFD:NM_033135:exon1:c.T89C:p.I30T	.	.	.	.	.	.	.	.	.	.	.	4040718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00471433378379	.	.	8.267e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs751107412	7.75e-06	8.893e-06	2.784e-06	1.284e-05	0.0001	4.16e-06	3.04e-06	3.507e-05	2.121e-05	0	0	0	0.0001	0	0	3.699e-06	3.445e-05	1.232e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.09	0.32296	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.04355	B	0.108409	0.19528	N	0.470987	0.932569	0.27018	N	0.55	0.14455	N	1.73	0.26445	T	-0.85	0.33798	N	0.214	0.23884	-1.0186	0.24171	T	0.031	0.13242	T	10	0.10015318	0.18221	T	0.004714	0.11722	T	0.027	0.05988	0.419	0.46036	0.418467456957	0.41465	0.4411870516030682	0.44035	0.246762907825	0.27210	0.517827570438	0.41320	T	0.141659	0.47684	T	-0.39157	0.02628	T	-0.627782	0.10584	T	0.0271182915980286	0.01562	T	0.60154	0.22486	T	0.054387987	0.10428	0.04996922	0.07746	0.054387987	0.10427	0.04996922	0.07745	-2.887	0.09014	T	.	.	0.588	0.68391	P	.;.	.;.	2.360405	0.30275	18.39	0.82991554774797549	0.14484	0.62552	0.31816	D	ALL	0.292575	0.40341	N	-0.703322383106922	0.15928	0.807101	-0.556331993778513	0.20638	1.112812	0.999967671884651	0.48965	0.627647	0.40530	0	0.609123	0.50646	0	0.64067	0.45733	0	0.657601	0.63696	0	.	.	4.74	2.43	0.28797	2.566000	0.45611	5.939000	0.51448	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.8172:0.0:0.1828:0.0	7.075	0.24378	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	.	.	.	.	.	.	.	.	0.08333	2126.83	136	chr11	104163839	.	A	G	2126.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.01;DP=315;ExcessHet=0;FS=1.389;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.007;SOR=0.565	GT:AD:DP:GQ:PL	0/1:53,83:136:99:2137,0,1227	5	0	1	0
chr11	108917908	108917910	TGA	-	exonic	DDX10	.	nonframeshift deletion	DDX10:NM_004398:exon17:c.2340_2342del:p.D788del	.	450	1043	1	0	28	29	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185	.	0.0040	0.0022	0.0037	0.0032	0.0018	0.0036	0.0033	0.0083	0.00315	487	154602	rs756833840	0.0005	0.0070	0.0005	0.0005	0.0039	0.0005	0.0005	0.0025	0.0021	0.0002	0.0003	0	0.0003	7.643e-05	0.0039	0.0005	0.0007	0.0014	0.0002	0.0003	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0002	0	0.0003	0	0.0004	0	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	807.79	39	chr11	108917907	.	GTGA	G	807.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=186;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=1.34;SOR=0.399	GT:AD:DP:GQ:PL	0/1:18,21:39:99:818,0,692	5	0	1	0
chr11	111737492	111737492	T	A	exonic	PPP2R1B	.	nonsynonymous SNV	PPP2R1B:NM_181700:exon13:c.A1675T:p.N559Y,PPP2R1B:NM_181699:exon15:c.A1867T:p.N623Y	Lung cancer, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	2809843	PPP2R1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	0.0076	0.00199681	0.0057	0.0026	0.0044	0	0.0029	0.0086	0.0077	0.0007	0.0060995	943	154602	rs61756429	0.0073	0.0074	0.0074	0.0073	0.0163	0.0072	0.0072	0.0136	0.0126	0.0021	0.0050	0.0020	0	0.0036	0.0163	0.0087	0.0069	0.0009	0.0064	0.0064	0.0066	0.0062	0.0103	0.0061	0.0059	0.0096	0.0094	0.0025	0.0252	0.0058	0.0009	0	0.0031	0.0204	0.0103	0.0071	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.965	0.56013	D	0.66	0.52803	P	0.243438	0.15662	N	0.617749	0.828419	0.35492	D	.	.	.	.	.	.	-0.6	0.17834	N	0.412	0.50327	-1.0335	0.19332	T	0.069	0.28180	T	9	0.0037582517	0.00070	T	.	.	.	0.094	0.27141	.	.	0.473616572423	0.46988	0.22862141231157473	0.22777	0.340094388157	0.35952	0.491730928421	0.37679	T	.	.	.	-0.359734	0.04145	T	-0.280114	0.46792	T	0.0228719775258281	0.01009	T	0.693531	0.30321	T	.	.	.	.	.	.	.	.	-4.111	0.26679	T	.	.	0.078	0.06942	B	.;.	.;.	2.370131	0.30412	18.43	0.98138998197519878	0.38588	0.76163	0.37334	D	AEFDGBHCI	0.205005	0.33140	N	0.0101333165650002	0.42315	2.54729	0.0417641372417915	0.41674	2.507797	0.999999981257004	0.74766	0.729952	0.87565	0	0.577304	0.33150	0	0.489635	0.07774	0	0.692231	0.68500	0	.	.	5.25	4.13	0.47661	1.859000	0.39058	1.581000	0.27475	0.644000	0.52426	1.000000	0.71638	0.991000	0.31484	0.723000	0.34869	0.0:0.0914:0.0:0.9086	7.918	0.28989	100	0.95872	.;.	C11orf52	Brain_Cerebellum	PPP2R1B|PPP2R1B	Adipose_Subcutaneous|Adipose_Subcutaneous	.	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	0.014099	0.020202	0.017663	0.023392	0.050000	0.000000	0.009146	0.003788	0.08333	1087.83	95	chr11	111737492	.	T	A	1087.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.241;DP=271;ExcessHet=0;FS=2.675;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.224;SOR=0.782	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1098,0,1306	5	0	1	0
chr11	118660640	118660640	T	C	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.A908G:p.N303S,TREH:NM_007180:exon10:c.A1001G:p.N334S	Trehalase deficiency	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00125204787486	.	.	0.0002	0	0	0	0	0	0	0.0012	8.41e-05	13	154602	rs782001935	4.467e-05	4.446e-05	1.229e-05	7.745e-05	0.0008	3.591e-05	3.272e-05	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0008	3.285e-05	3.281e-05	1.286e-05	5.375e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.046	0.40573	D	0.073	0.43159	T	0.0	0.02946	B	0.0	0.01387	B	0.102859	0.19774	N	0.581631	1	0.08975	N	.	.	.	2.18	0.18875	T	-0.45	0.14782	N	0.122	0.11912	-1.0284	0.20973	T	0.027	0.11529	T	9	0.017226905	0.00367	T	0.001252	0.01683	T	0.027	0.05988	0.337	0.32654	0.0551355673512	0.04727	0.2570234685693903	0.25616	0.0275193117563	0.02815	0.289728879929	0.08882	T	0.036453	0.24107	T	-0.685113	0.00045	T	-0.836155	0.01158	T	0.0691599547863007	0.08533	T	0.556544	0.19325	T	0.039612364	0.05502	0.042102188	0.04939	0.039612364	0.05501	0.042102188	0.04938	-1.898	0.08267	T	.	.	0.062	0.01577	B	.;.	.;.	-0.201360	0.03083	0.484	0.48001988879487989	0.03970	0.04959	0.10723	N	AEFDBCI	0.067482	0.13268	N	-1.28485407353786	0.03857	0.1730653	-1.33012651131634	0.04045	0.1900182	0.999941314383577	0.47345	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	4.72	-0.281	0.12244	0.324000	0.19357	0.450000	0.18513	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.0:0.2685:0.3196:0.4119	4.449	0.11031	316	0.87161	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1689.83	115	chr11	118660640	.	T	C	1689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=294;ExcessHet=0;FS=5.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.736;SOR=0.601	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1700,0,1491	5	0	1	0
chr11	121514222	121514222	A	C	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon8:c.A1112C:p.N371T	.	424	1094	4	0	0	4	0.00182482	.	.	.	724261	not_provided|SORL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0129148471588	0.0010	0.000399361	0.0014	0	0.0002	0	0.0024	0.0022	0	0.0003	0.001326	205	154602	rs150609294	0.0014	0.0014	0.0014	0.0013	0.0015	0.0013	0.0013	0.0014	0.0014	0.0002	0.0002	7.652e-05	0	0.0033	0.0003	0.0015	0.0013	0.0004	0.0014	0.0014	0.0015	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	9.626e-05	0	0	0	0	0.0031	0	0.0025	0.0009	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.932	0.51990	P	0.476	0.46961	P	0.000001	0.84330	D	0.091855	0.999809	0.49283	D	2.215	0.62545	M	1.37	0.34253	T	-4.36	0.76980	D	0.554	0.57946	-0.9806	0.34863	T	0.109	0.39392	T	10	0.031701446	0.01309	T	0.012915	0.31889	T	0.297	0.61730	.	.	0.707159592433	0.70460	0.377463242148245	0.37661	0.452076910653	0.44938	0.489787101746	0.37408	T	0.289049	0.66184	T	-0.381186	0.03063	T	-0.323688	0.42169	T	0.0672406434466806	0.08258	T	0.914708	0.69569	D	0.750457	0.80894	0.5807987	0.75702	0.750457	0.80896	0.5807987	0.75703	-7.448	0.57243	T	.	.	0.330	0.55194	B	.	.	4.257830	0.64686	24.7	0.99592412432224497	0.73690	0.99041	0.90363	D	AEDBI	0.899757	0.84452	D	0.582667469992828	0.72094	5.751803	0.637293403801528	0.77667	6.723768	0.999999999999834	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	9.245000	0.94556	11.155000	0.87468	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.906	0.79213	805	0.43675	Sortilin, N-terminal|VPS10	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1164.83	94	chr11	121514222	.	A	C	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.264;DP=277;ExcessHet=0;FS=3.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.843;SOR=0.775	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1175,0,1169	5	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	868.06	130	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	868.06	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.51;DP=434;ExcessHet=0.6695;FS=70.836;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.55;ReadPosRankSum=-2.554;SOR=3.812	GT:AD:DP:GQ:PL	0/1:117,13:130:99:188,0,4835	2	0	2	2
chr12	914041	914041	C	T	exonic	RAD52	.	nonsynonymous SNV	RAD52:NM_001297421:exon9:c.G817A:p.D273N,RAD52:NM_001297419:exon11:c.G1048A:p.D350N,RAD52:NM_134424:exon11:c.G1048A:p.D350N	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00662625537936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867412462	1.163e-05	1.231e-05	6.806e-06	1.65e-05	0.0021	7.08e-06	5.79e-06	0.0012	0.0009	2.987e-05	0	0	0	0	0.0021	2.698e-06	1.656e-05	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.044	0.41096	D	0.444	0.13177	T	0.001	0.07471	B	0.001	0.04355	B	0.393406	0.13224	N	0.754801	0.99604	0.23130	N	0.345	0.11182	N	1.95	0.22474	T	-0.44	0.14588	N	0.089	0.06720	-1.0938	0.04929	T	0.053	0.22501	T	10	0.09975085	0.18123	T	0.006626	0.17472	T	0.051	0.14325	.	.	0.542053899377	0.53859	0.0434218068131532	0.04287	0.110484150169	0.12470	0.280847519636	0.07611	T	0.063656	0.32232	T	-0.372839	0.03453	T	-0.757848	0.03190	T	0.102955372299661	0.12679	T	0.510849	0.16306	T	0.09343841	0.21945	0.06043039	0.11507	0.09343841	0.21945	0.06043039	0.11507	-3.723	0.19658	T	.	.	0.072	0.04238	B	.;.	.;.	1.695632	0.21600	15.27	0.98945165919826261	0.49016	0.72844	0.35642	D	AEFDBHCIJ	0.109441	0.21737	N	-0.456482749938135	0.23521	1.263682	-0.347782074774469	0.26577	1.468948	0.999985589763337	0.51787	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	0.681000	0.25001	1.871000	0.29387	0.524000	0.24156	0.889000	0.31176	0.995000	0.32472	0.013000	0.09966	0.0:0.7529:0.16:0.0871	8.384	0.31649	499	0.76092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	1661.83	129	chr12	914041	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.69;DP=305;ExcessHet=0;FS=2.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.1;SOR=0.515	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1672,0,1483	5	0	1	0
chr12	1786064	1786064	G	T	exonic	ADIPOR2	.	nonsynonymous SNV	ADIPOR2:NM_001375365:exon8:c.G1153T:p.A385S,ADIPOR2:NM_024551:exon8:c.G1153T:p.A385S,ADIPOR2:NM_001375363:exon9:c.G1252T:p.A418S,ADIPOR2:NM_001375364:exon9:c.G1153T:p.A385S	.	428	1084	9	1	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00378159878022	0.0014	0.00199681	0.0020	9.632e-05	0.0002	0	0.0002	0.0015	0	0.0088	0.0019857	307	154602	rs139431821	0.0025	0.0025	0.0023	0.0026	0.0085	0.0024	0.0024	0.0080	0.0078	0.0002	0.0006	3.827e-05	0	0.0003	0.0047	0.0024	0.0018	0.0085	0.0011	0.0011	0.0010	0.0012	0.0060	0.0010	0.0009	0.0043	0.0037	0.0002	0	0.0009	0	0	9.425e-05	0.0034	0.0017	0	0.0060	0.405	0.10311	T	0.475	0.12072	T	0.008	0.14655	B	0.007	0.12992	B	0.010451	0.29920	N	0.393157	0.992871	0.23810	N	.	.	.	2.22	0.18248	T	-0.77	0.21429	N	0.247	0.27910	-0.9885	0.32978	T	0.029	0.12322	T	10	0.0050210655	0.00108	T	0.003782	0.08806	T	0.057	0.16321	.	.	0.311241185304	0.30733	0.6369938101678874	0.63633	0.795949409878	0.66043	0.42763376236	0.28886	T	0.16666	0.51299	T	-0.534483	0.00361	T	-0.534693	0.18820	T	0.000968187312705358	0.00009	T	.	.	.	0.032844402	0.03389	0.047884136	0.06995	0.032844402	0.03388	0.047884136	0.06994	-3.746	0.20000	T	.	.	0.061	0.01109	B	.	.	2.687411	0.35076	19.80	0.95206705199647834	0.26407	0.99135	0.91741	D	AEFBI	0.605565	0.59623	D	-0.257386744464198	0.30808	1.721418	-0.0949683362678949	0.35597	2.061405	0.606421852350769	0.21768	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.6	0.30173	1.829000	0.38760	7.481000	0.59259	0.676000	0.76740	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.2178:0.0:0.7822:0.0	10.031	0.41271	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.003788	0.08333	554.83	35	chr12	1786064	.	G	T	554.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.531;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.429;SOR=0.765	GT:AD:DP:GQ:PL	0/1:17,18:35:99:565,0,545	5	0	1	0
chr12	4536126	4536126	A	C	exonic	C12orf4	.	nonsynonymous SNV	C12orf4:NM_001304811:exon2:c.T69G:p.S23R,C12orf4:NM_001346153:exon2:c.T69G:p.S23R,C12orf4:NM_001346155:exon2:c.T69G:p.S23R,C12orf4:NM_020374:exon2:c.T69G:p.S23R	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00197417573918	.	.	3.309e-05	0	0	0	0	6.022e-05	0	0	3.23e-05	5	154602	rs770600328	4.403e-05	4.446e-05	3.697e-05	5.117e-05	0.0033	3.529e-05	3.211e-05	0.0022	0.0018	0	2.285e-05	0	0	0	0.0033	3.431e-05	8.328e-05	1.177e-05	2.629e-05	2.626e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.318	0.13654	T	0.578	0.08565	T	0.0	0.02946	B	0.0	0.01387	B	0.437818	0.12665	N	0.778139	1	0.08975	N	0.205	0.09354	N	.	.	.	-0.64	0.18670	N	0.101	0.09349	-1.0467	0.15332	T	0.054	0.22693	T	9	0.053230733	0.05480	T	0.001974	0.03535	T	0.075	0.21907	0.33	0.31519	0.16115917748	0.15686	0.36726760890471444	0.36640	0.385382303025	0.39828	.	.	.	0.02519	0.18883	T	-0.285489	0.10094	T	-0.537803	0.18512	T	0.0152273080306667	0.00334	T	0.50325	0.15827	T	0.051039334	0.09314	0.041168075	0.04617	0.051039334	0.09314	0.041168075	0.04617	-4.386	0.29367	T	0.16011408176118275	0.19512	0.132	0.29505	B	.;.	.;.	1.136054	0.15231	11.69	0.96494761162784215	0.30020	0.20834	0.21185	N	AEFGBI	.	.	.	-0.866993876245138	0.11635	0.5625212	-0.866531271648138	0.12891	0.6657232	0.999973062761895	0.50053	0.732398	0.92422	0	0.80507	0.99744	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.91	-3.39	0.04563	0.784000	0.26477	1.850000	0.29250	0.750000	0.87069	0.208000	0.24400	0.540000	0.25410	0.995000	0.73285	0.4258:0.1008:0.1523:0.321	1.221	0.01806	876	0.30350	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.010101	0.000000	0.008772	0.000000	0.008621	0.006098	0.000000	0.08333	629.83	76	chr12	4536126	.	A	C	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.12;DP=255;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.526;SOR=0.826	GT:AD:DP:GQ:PL	0/1:46,30:76:99:640,0,1112	5	0	1	0
chr12	4626804	4626804	A	0	exonic	AKAP3	.	.	.	.	433	800	251	33	5	322	0.165363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1941.98	113	chr12	4626804	.	A	*	1941.98	.	AC=2;AF=0.167;AN=12;DP=620;ExcessHet=0;FS=0.544;MLEAC=2;MLEAF=0.167;MQ=60;QD=8.33;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,65:113:99:.:.:5068,1999,1942:.	4	0	2	0
chr12	5952498	5952498	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G8008A:p.G2670S	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	.	1696197	von_Willebrand_disease_type_1	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.324	0.0680108071434	.	.	1.662e-05	0	0	0	0	1.508e-05	0	6.153e-05	1.29e-05	2	154602	rs746890802	6.157e-06	6.156e-06	6.807e-06	5.501e-06	4.638e-05	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001620	0.38497	N	0.000000	1	0.81001	D	3.08	0.87267	M	1.36	0.34452	T	-1.78	0.42001	N	0.566	0.58968	-0.6721	0.61733	T	0.229	0.59472	T	10	0.6733493	0.70845	D	0.068011	0.70330	D	0.324	0.64624	0.46	0.52753	0.832200640711	0.83060	0.857853137591115	0.85748	0.889460143212	0.70153	0.404747903347	0.25729	T	0.402356	0.75941	T	-0.097208	0.36887	T	-0.276779	0.47135	T	0.926382839679718	0.58864	D	0.926807	0.73035	D	0.1767578	0.38605	0.16763467	0.38662	0.1767578	0.38604	0.16763467	0.38661	-4.87	0.35396	T	0.64595562711054	0.71736	0.105	0.19235	B	.	.	4.682070	0.74937	26.2	0.99302091377747237	0.58686	0.90002	0.50847	D	AEFBCI	0.887853	0.82045	D	0.701365434973133	0.79721	7.138046	0.645350416251779	0.78264	6.841476	0.999899224578707	0.45129	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	5.943000	0.69923	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	16.919	0.86029	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1470.83	102	chr12	5952498	.	C	T	1470.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.789;DP=298;ExcessHet=0;FS=3.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.264;SOR=0.374	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1481,0,1097	5	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1667	63.06	90	chr12	10930916	.	C	T	63.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=344;ExcessHet=0.4139;FS=1.166;MLEAC=2;MLEAF=0.167;MQ=40.91;MQRankSum=-0.305;QD=0.42;ReadPosRankSum=0.743;SOR=0.858	GT:AD:DP:GQ:PL	0/1:80,10:90:30:30,0,2357	4	0	2	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1591.03	91	chr12	12477735	.	C	*	1591.03	.	AC=1;AF=0.083;AN=12;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=17.48;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,37:91:99:1|0:12477731_TGCACGCTGG_T:3060,1604,1975:12477731	5	0	1	0
chr12	31085099	31085099	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon5:c.G611A:p.S204N,DDX11:NM_001257145:exon5:c.G533A:p.S178N,DDX11:NM_004399:exon5:c.G611A:p.S204N,DDX11:NM_030653:exon5:c.G611A:p.S204N,DDX11:NM_152438:exon5:c.G611A:p.S204N	Warsaw breakage syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	.	0.00259585	0.0037	0	0	0	0	5.58e-05	0	0.0153	0.001326	205	154602	rs567905186	0.0008	0.0008	0.0004	0.0012	0.0135	0.0008	0.0008	0.0128	0.0126	0	0	0	5.253e-05	0	0.0017	1.829e-05	0.0008	0.0135	0.0004	0.0004	0.0003	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	2.404e-05	0	6.531e-05	0	0	0	0.0034	0	0	0.0114	0.024	0.68238	D	0.01	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	-1.55	0.81727	D	-2.26	0.52938	N	0.571	0.62273	0.485	0.90331	D	0.703	0.89790	D	10	0.009506047	0.00214	T	.	.	.	0.276	0.59253	.	.	0.805397873901	0.80357	0.30417057431245426	0.30330	.	.	0.645296812057	0.59316	T	0.027074	0.50082	T	-0.274765	0.11231	T	-0.155133	0.58787	T	0.189950296024925	0.19842	T	0.738826	0.59013	T	0.3636877	0.58115	0.24674577	0.50191	0.42434508	0.62380	0.24949948	0.50522	-9.661	0.75963	D	.	.	0.577	0.70820	P	.;.;.;.;.;.	.;.;.;.;.;.	4.321759	0.66145	24.9	0.98188412251055779	0.39010	0.99271	0.93751	D	AEFBI	0.902854	0.85124	D	0.428569156356455	0.62999	4.525433	0.241233955731785	0.52152	3.392011	0.992179984668099	0.32745	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.7	3.7	0.41607	8.200000	0.89695	9.495000	0.80900	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	13.055	0.58387	976	0.04745	.;.;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;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	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001710	0.000000	0.000000	0.008547	0.000000	0.000000	0.000000	0.004000	0.08333	570.83	39	chr12	31085099	.	G	A	570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.725;DP=203;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.083;MQ=51.49;MQRankSum=1.56;QD=14.64;ReadPosRankSum=0.635;SOR=0.858	GT:AD:DP:GQ:PL	0/1:18,21:39:99:581,0,500	5	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	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:16,16:32:69:69,0,152	1	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,338:732:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13080,0,15449:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,338:732:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13080,0,15449:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,338:732:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13080,0,15449:40486484	1	0	5	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:742,42:784:99:.:.:2345,0,30799:.	1	0	5	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:742,35:777:99:.:.:2382,0,30227:.	1	0	5	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	531.59	126	chr12	40509053	.	T	A	531.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.534;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.17;MQRankSum=-9.247;QD=1.45;ReadPosRankSum=2.63;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,14:126:99:0|1:40509053_T_A:251,0,4594:40509053	2	0	3	1
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	525.59	126	chr12	40509056	.	G	A	525.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.68;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.21;MQRankSum=-9.247;QD=1.43;ReadPosRankSum=2.51;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,14:126:99:0|1:40509053_T_A:251,0,4615:40509053	2	0	3	1
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509061	.	G	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.095;DP=617;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.24;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.33;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,14:127:99:0|1:40509053_T_A:248,0,4694:40509053	2	0	3	1
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509062	.	A	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.553;DP=620;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.3;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,14:127:99:0|1:40509053_T_A:248,0,4694:40509053	2	0	3	1
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.3	402.59	126	chr12	40509076	.	G	A	402.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.557;DP=620;ExcessHet=1.383;FS=1.434;MLEAC=3;MLEAF=0.3;MQ=59.29;MQRankSum=-9.192;QD=1.13;ReadPosRankSum=2.33;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,13:126:99:0|1:40509076_G_A:206,0,4637:40509076	2	0	3	1
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	359.59	131	chr12	40509081	.	T	C	359.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.302;DP=626;ExcessHet=1.383;FS=0.679;MLEAC=3;MLEAF=0.3;MQ=59.35;MQRankSum=-9.192;QD=0.99;ReadPosRankSum=2.32;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,13:131:99:0|1:40509076_G_A:191,0,4757:40509076	2	0	3	1
chr12	42466379	42466379	A	G	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon6:c.T590C:p.I197T,PRICKLE1:NM_001144882:exon6:c.T590C:p.I197T,PRICKLE1:NM_001144883:exon6:c.T590C:p.I197T,PRICKLE1:NM_153026:exon6:c.T590C:p.I197T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	.	.	.	.	.	.	0.5637	0.406	.	995203	Epilepsy,_progressive_myoclonic,_1B	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.890	0.24266398482	.	0.000399361	6.631e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs542029566	3.694e-05	3.762e-05	2.587e-05	4.813e-05	0.0006	2.894e-05	2.592e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	1.656e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.041340	1	0.81001	D	1.455	0.36767	L	-2.19	0.86815	D	-4.68	0.79659	D	0.881	0.88246	0.573	0.91544	D	0.720	0.90408	D	10	0.5556531	0.64502	D	0.242664	0.88769	D	0.890	0.96836	0.513	0.61153	0.885734670069	0.88461	0.5280373441810893	0.52727	1.24542469926	0.81664	0.960251808167	0.99912	D	0.638727	0.88894	D	0.159181	0.70124	D	0.347253	0.90209	D	0.556358819881684	0.34717	D	0.975436	0.91320	D	0.81084573	0.84609	0.7366969	0.84438	0.81084573	0.84611	0.7366969	0.84439	-10.102	0.74520	D	0.7613643801752861	0.84313	0.976	0.90812	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.410980	0.90574	31	0.99846920740889133	0.92663	0.99641	0.98258	D	AEFBI	0.916877	0.88369	D	0.717929488377348	0.80805	7.377013	0.713626673112203	0.83413	8.015133	0.999999984353166	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	9.325000	0.96006	11.144000	0.87156	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.335	0.73958	501	0.75956	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	904.83	72	chr12	42466379	.	A	G	904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.482;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.744;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,36:72:99:915,0,995	5	0	1	0
chr12	43462906	43462906	C	T	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon11:c.G1603A:p.G535S	.	.	.	.	.	.	.	.	.	.	.	3652959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.026750030341	.	.	7.957e-05	0	0	0.0002	0	6.212e-05	0	0.0002	3.88e-05	6	154602	rs778375054	1.446e-05	1.779e-05	1.369e-05	1.525e-05	0.0001	9.29e-06	7.89e-06	5.516e-05	4.129e-05	0.0001	2.3e-05	0	0	0	0	5.421e-06	1.666e-05	0.0001	7.885e-05	7.88e-05	5.138e-05	0.0001	0.0003	4.497e-05	3.512e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.131	0.26629	T	0.148	0.36365	T	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	2.59	0.75718	M	-0.1	0.67712	T	-2.67	0.57110	D	0.54	0.59901	-0.1327	0.79338	T	0.410	0.75873	T	10	0.41697222	0.56607	T	0.02675	0.49630	D	0.215	0.50805	.	.	0.874395811798	0.87316	0.7915550122668243	0.79107	0.258634915718	0.28424	0.540402770042	0.44502	T	.	.	.	-0.116057	0.33770	T	-0.18915	0.55669	T	0.73723578453064	0.42589	D	0.821518	0.51702	T	.	.	.	.	.	.	.	.	-5.956	0.45909	T	.	.	0.181	0.39322	B	.;.;.	.;.;.	3.702621	0.52811	23.3	0.99885006876818605	0.96049	0.99455	0.96243	D	AEFBI	0.792816	0.72100	D	0.675588115638195	0.78031	6.790707	0.650239159530515	0.78628	6.914719	0.999997224202895	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	4.87	4.87	0.62877	5.502000	0.66672	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	18.916	0.92479	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	518.83	54	chr12	43462906	.	C	T	518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.425;DP=222;ExcessHet=0;FS=2.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.481;SOR=0.425	GT:AD:DP:GQ:PL	0/1:31,23:54:99:529,0,753	5	0	1	0
chr12	47844650	47844650	G	A	exonic	VDR	.	unknown	UNKNOWN	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	12	1509	1	0	0	1	0.000331236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975847220	2.492e-05	2.533e-05	1.56e-05	3.432e-05	7.183e-05	1.809e-05	1.601e-05	3.076e-05	2.091e-05	3.085e-05	0	0	0	0	0	2.61e-05	0	7.183e-05	4.595e-05	4.593e-05	6.422e-05	2.685e-05	0.0001	2.107e-05	1.526e-05	4.726e-05	3.044e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	406.83	29	chr12	47844650	.	G	A	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.59;SOR=0.622	GT:AD:DP:GQ:PL	0/1:15,14:29:99:417,0,395	5	0	1	0
chr12	48979627	48979627	T	A	exonic	WNT1	.	nonsynonymous SNV	WNT1:NM_005430:exon2:c.T264A:p.S88R	Osteogenesis imperfecta, type XV, Autosomal recessive	416	1091	15	0	0	15	0.00682749	.	.	.	215450	Osteogenesis_imperfecta|not_specified|not_provided|Osteogenesis_imperfecta_type_15|OSTEOPOROSIS,_EARLY-ONSET,_SUSCEPTIBILITY_TO	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666|MedGen:C3714945,OMIM:615221,Orphanet:85193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	0.0038	0.00279553	0.0030	0.0013	0.0017	0	0.0018	0.0044	0	0.0013	0.0031177	482	154602	rs61758378	0.0047	0.0047	0.0048	0.0046	0.0170	0.0046	0.0045	0.0143	0.0133	0.0015	0.0021	0.0052	0	0.0022	0.0170	0.0054	0.0046	0.0012	0.0037	0.0037	0.0039	0.0034	0.0061	0.0034	0.0033	0.0056	0.0054	0.0014	0	0.0024	0.0043	0	0.0016	0.0068	0.0061	0.0052	0.0006	0.177	0.22224	T	0.368	0.30926	T	0.174	0.28827	B	0.134	0.33146	B	0.000065	0.52346	D	0.163297	0.998096	0.44502	D	0.49	0.13296	N	-0.98	0.75789	T	-0.32	0.12283	N	0.461	0.49783	-1.0170	0.24690	T	0.149	0.47540	T	10	0.008583903	0.00194	T	.	.	.	0.316	0.63799	0.553	0.66995	0.376570364461	0.37271	0.749888599216709	0.74935	.	.	0.636694550514	0.58095	T	0.480335	0.80937	T	-0.378033	0.03206	T	-0.313876	0.43241	T	0.00763754133154457	0.00089	T	0.658334	0.26756	T	0.17814307	0.38818	0.17639557	0.40171	0.20008159	0.41971	0.15608479	0.36558	-7.852	0.60057	D	0.07982010861788254	0.03967	0.546	0.66601	A	.;.	.;.	1.308768	0.17114	12.97	0.98124746947429931	0.38465	0.41229	0.26611	N	AEFDBHCIJ	0.377588	0.46130	N	-0.960380011496076	0.09461	0.44787	-0.880464813226318	0.12557	0.6466163	0.989113297446559	0.31727	0.59774	0.34471	0	0.606814	0.50340	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.84	0.813	0.17891	-1.064000	0.03572	0.219000	0.16052	-1.002000	0.01800	0.006000	0.17386	0.975000	0.29991	0.980000	0.58198	0.0:0.5711:0.0:0.4289	8.002	0.29462	680	0.59965	.;.	.	.	.	.	.	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	0.013092	0.005051	0.013587	0.038012	0.000000	0.000000	0.009146	0.000000	0.08333	1852.83	119	chr12	48979627	.	T	A	1852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=305;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.093;SOR=0.537	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1863,0,1195	5	0	1	0
chr12	52248734	52248734	G	A	exonic	KRT7	.	nonsynonymous SNV	KRT7:NM_005556:exon9:c.G1384A:p.A462T	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0002	0.0277556	0.0130	0.0001	0.0007	0.0952	0	7.866e-05	0.0085	0.0496	0.0114099	1764	154602	rs74761279	0.0054	0.0054	0.0044	0.0064	0.0914	0.0053	0.0053	0.0889	0.0878	0.0002	0.0003	0	0.0914	0	0.0017	0.0001	0.0074	0.0433	0.0051	0.0051	0.0037	0.0065	0.0972	0.0048	0.0047	0.0902	0.0874	0.0002	0	0.0003	0	0.0972	0	0	7.352e-05	0.0038	0.0510	1.0	0.00964	T	0.344	0.17804	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	-1.58	0.81987	D	0.3	0.04091	N	0.075	0.04913	-1.0971	0.04460	T	0.009	0.03227	T	9	0.0016668141	0.00020	T	.	.	.	0.095	0.27398	.	.	.	.	0.4400526626391532	0.43922	0.269543108968	0.29473	0.259349256754	0.04814	T	0.056403	0.30278	T	-0.550562	0.00289	T	-0.476768	0.24791	T	0.000785969789610126	0.00007	T	0.241376	0.03476	T	0.018106438	0.00332	0.047727853	0.06937	0.018106438	0.00332	0.047727853	0.06937	-3.105	0.11353	T	.	.	0.067	0.02518	B	.	.	0.170227	0.05595	2.048	0.78760455704777255	0.12441	0.02893	0.07682	N	AEFDGBCI	0.048208	0.08201	N	-1.40721045940161	0.02575	0.1138847	-1.41359339509129	0.03115	0.1446979	0.999999789266397	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.645665	0.59343	0	.	.	4.32	-1.63	0.07900	0.108000	0.15232	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3509:0.0:0.387:0.2621	4.163	0.09755	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006067	0.005051	0.000000	0.002959	0.000000	0.000000	0.006173	0.026515	0.08333	562.83	49	chr12	52248734	.	G	A	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.303;DP=223;ExcessHet=0;FS=1.129;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.202;SOR=1.048	GT:AD:DP:GQ:PL	0/1:28,21:49:99:573,0,795	5	0	1	0
chr12	52448859	52448859	C	T	exonic	KRT6B	.	nonsynonymous SNV	KRT6B:NM_005555:exon6:c.G1186A:p.D396N	Pachyonychia congenita 4	0	1470	50	2	0	54	0.0180361	.	.	.	1650215	not_provided|Pachyonychia_congenita_4|KRT6B-related_disorder	MedGen:C3661900|MONDO:MONDO:0014325,MedGen:C3714949,OMIM:615728,Orphanet:2309|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0370667917493	0.0048	0.00379393	0.0049	0.0008	0.0021	0	0.0047	0.0065	0.0066	0.0055	0.0048318	747	154602	rs138988810	0.0050	0.0050	0.0048	0.0053	0.0166	0.0049	0.0049	0.0140	0.0129	0.0008	0.0033	0.0042	0	0.0040	0.0166	0.0053	0.0051	0.0060	0.0047	0.0047	0.0047	0.0047	0.0086	0.0044	0.0043	0.0074	0.0069	0.0012	0.0077	0.0086	0.0029	0.0002	0.0048	0.0102	0.0063	0.0029	0.0066	0.002	0.72154	D	0.02	0.58613	D	0.982	0.60036	D	0.749	0.56004	P	0.000005	0.62929	D	0.000000	0.941029	0.37319	D	2.52	0.73523	M	-2.43	0.88689	D	-3.48	0.67941	D	0.206	0.22870	0.211	0.86091	D	0.611	0.86212	D	10	0.009766489	0.00220	T	0.037067	0.57386	D	0.323	0.64522	.	.	0.933383198423	0.93269	0.0682777528414946	0.06765	0.692663828589	0.60675	0.378177523613	0.21997	T	0.769912	0.93833	D	-0.448374	0.01155	T	-0.411285	0.32075	T	0.0317104304020713	0.02260	T	0.714629	0.32694	T	0.5250736	0.68550	0.40600243	0.64985	0.5250736	0.68551	0.40600243	0.64985	-12.26	0.86094	D	0.5008968298425475	0.57612	0.244	0.47837	B	.	.	3.883627	0.56458	23.7	0.99727823198475718	0.82549	0.79584	0.39464	D	AEFDBI	0.120194	0.23426	N	-0.15400297750387	0.35064	2.009386	-0.392549665494659	0.25217	1.385506	0.944437047773551	0.27615	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.75	-0.249	0.12368	2.146000	0.41840	.	.	0.549000	0.26987	0.944000	0.32806	0.000000	0.08366	0.975000	0.56047	0.0:0.7115:0.0:0.2885	8.354	0.31480	595	0.68488	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.020202	0.017663	0.011696	0.000000	0.008621	0.021341	0.022727	0.08333	5451.83	451	chr12	52448859	.	C	T	5451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.2;DP=641;ExcessHet=0;FS=0.525;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-1.448;QD=12.09;ReadPosRankSum=0.103;SOR=0.753	GT:AD:DP:GQ:PL	0/1:243,208:451:99:5462,0,6024	5	0	1	0
chr12	53299799	53299799	C	T	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C62T:p.T21I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00763810955466	0.0004	0.00199681	0.0014	0.0004	0.0002	0	0	0.0003	0	0.0085	0.001216	188	154602	rs138986768	0.0006	0.0006	0.0004	0.0009	0.0072	0.0006	0.0006	0.0068	0.0066	0.0007	0.0004	0	0	1.873e-05	0.0035	0.0002	0.0010	0.0072	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0045	0.0005	0	0	0	0	0	0	0.0002	0.0005	0.0070	0.021	0.49117	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.060189	0.02130	N	1.921390	1	0.19599	N	0.345	0.11182	N	1.0	0.41392	T	-0.42	0.14193	N	0.13	0.12484	-1.0250	0.22083	T	0.058	0.24317	T	10	0.003104955	0.00052	T	0.007638	0.20272	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.3777003793617032	0.37685	0.161219827377	0.18198	.	.	.	0.074533	0.34960	T	-0.635653	0.00088	T	-0.680439	0.06957	T	0.002566478180763	0.00027	T	0.458254	0.13193	T	0.050026316	0.08975	0.06833154	0.14257	0.050026316	0.08974	0.06833154	0.14257	-4.501	0.30902	T	.	.	0.115	0.22861	B	.	.	0.440373	0.08107	4.834	0.92249702680281398	0.21629	0.02084	0.06195	N	ALL	0.141607	0.26383	N	-1.32281383607669	0.03415	0.1525198	-1.34068077621244	0.03916	0.1836955	0.999999999999691	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-1.21	0.09033	-0.091000	0.11111	-0.278000	0.10292	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4484:0.2802:0.2714	5.448	0.15843	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1786.83	121	chr12	53299799	.	C	T	1786.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.559;DP=329;ExcessHet=0;FS=2.459;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.125;SOR=0.984	GT:AD:DP:GQ:PL	0/1:54,67:121:99:1797,0,1375	5	0	1	0
chr12	53985819	53985819	T	G	exonic	HOXC10	.	nonsynonymous SNV	HOXC10:NM_017409:exon1:c.T560G:p.L187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	.	0.0018	0.00299521	0.0008	0.0088	0.0002	0	0	0	0	0	0.000705	109	154602	rs141237360	0.0002	0.0002	0.0002	0.0001	0.0074	0.0002	0.0002	0.0067	0.0064	0.0074	0.0002	0	0	0	0.0003	3.597e-06	0.0002	0	0.0020	0.0020	0.0022	0.0019	0.0074	0.0018	0.0018	0.0067	0.0064	0.0074	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.724	0.55036	P	0.016191	0.28043	N	0.340164	0.999942	0.51968	D	1.78	0.46185	L	-2.95	0.91903	D	-3.85	0.72353	D	0.696	0.70088	0.178	0.85543	D	0.639	0.87376	D	10	0.008725882	0.00198	T	.	.	.	0.694	0.88913	.	.	0.902967721684	0.90200	0.44607338644858047	0.44525	0.642444202112	0.57808	0.770813584328	0.77547	T	0.240507	0.60885	T	-0.0830483	0.39217	T	0.11348	0.77803	D	0.105624943537286	0.12964	T	0.750125	0.37153	T	0.43477315	0.63064	0.26943228	0.52823	0.43477315	0.63065	0.26943228	0.52822	-3.726	0.19703	T	.	.	0.230	0.46296	B	.;.	.;.	3.438041	0.47809	22.5	0.99305889968440952	0.58795	0.80977	0.40481	D	AEFDGBCI	0.482413	0.52329	N	0.243716152092328	0.53329	3.502246	0.260005964663049	0.53220	3.492088	0.999999974231599	0.74766	0.676563	0.55306	0	0.596491	0.49125	0	0.596491	0.31596	0	0.600526	0.37237	0	.	.	4.63	4.63	0.57175	2.786000	0.47479	7.784000	0.68736	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.338	0.59969	195	0.92448	.;.	.	.	.	.	.	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	572.83	80	chr12	53985819	.	T	G	572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.443;DP=291;ExcessHet=0;FS=8.321;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-1.187;SOR=0.495	GT:AD:DP:GQ:PL	0/1:54,26:80:99:583,0,1747	5	0	1	0
chr12	55027377	55027377	A	G	exonic	NEUROD4	.	nonsynonymous SNV	NEUROD4:NM_021191:exon2:c.A938G:p.Y313C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.27222622422	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs753364277	6.158e-06	6.156e-06	4.084e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	0	0	2.629e-05	2.627e-05	2.569e-05	2.691e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	0.986	0.61523	D	0.733	0.55393	P	0.000007	0.62929	D	0.111909	0.99993	0.51612	D	2.165	0.60562	M	-3.98	0.96277	D	-5.08	0.82896	D	0.578	0.59986	0.886	0.95484	D	0.886	0.96202	D	10	0.81559825	0.80802	D	0.272226	0.89922	D	0.796	0.93306	.	.	0.995622052244	0.99558	.	.	0.100008103552	0.11303	0.540159344673	0.44467	T	0.500059	0.82081	D	0.0873602	0.62892	D	0.124379	0.78524	D	0.900918662548065	0.55354	D	0.838016	0.51077	T	0.62621504	0.74096	0.4835218	0.70098	0.62621504	0.74097	0.4835218	0.70099	-5.452	0.41417	T	.	.	0.111	0.21691	B	.	.	4.007284	0.59093	24.1	0.99726278775254484	0.82406	0.98426	0.82655	D	AEFBI	0.590779	0.58713	D	0.495272740743709	0.66812	4.998977	0.479349574887523	0.66624	4.976265	0.0012434599391279	0.08372	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	4.61	0.56724	3.998000	0.56736	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8559:0.0:0.0:0.1441	10.615	0.44633	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	.	.	.	.	.	.	.	.	0.08333	1865.83	157	chr12	55027377	.	A	G	1865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.041;DP=370;ExcessHet=0;FS=5.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.23;SOR=0.378	GT:AD:DP:GQ:PL	0/1:84,73:157:99:1876,0,2252	5	0	1	0
chr12	57524769	57524769	C	T	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon4:c.C163T:p.L55F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0439329793867	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs752186520	1.368e-05	1.368e-05	4.084e-06	2.338e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0006	5.23e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.013	0.65419	D	0.046	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000187	0.48115	D	0.000000	0.837083	0.35007	D	2.615	0.76484	M	-3.91	0.96047	D	-2.75	0.63554	D	0.601	0.61933	1.011	0.97380	D	0.872	0.95731	D	10	0.42526639	0.57131	T	0.043933	0.61237	D	0.556	0.81717	0.408	0.44230	0.759788883185	0.75760	0.5090569890299664	0.50827	0.0486988471212	0.05321	0.745053112507	0.73717	T	0.214244	0.65154	T	0.0507116	0.58435	T	0.127216	0.78711	D	0.619617104530334	0.37190	D	0.961204	0.85427	D	0.3602998	0.57858	0.33527485	0.59343	0.3602998	0.57859	0.33527485	0.59343	-9.493	0.70815	D	.	.	0.739	0.85307	P	.;.;.;.	.;.;.;.	4.428600	0.68660	25.3	0.9942732710190445	0.64081	0.80996	0.40496	D	AEFDBCI	0.372985	0.45842	N	0.548916684733052	0.70015	5.440036	0.531969087577336	0.70153	5.463463	0.999999671370569	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.56	4.56	0.55644	3.650000	0.54164	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8311:0.1689:0.0	12.497	0.55274	411	0.82069	Methyl-CpG DNA binding|Methyl-CpG DNA binding;Methyl-CpG DNA binding;Methyl-CpG DNA binding|Methyl-CpG DNA binding;Methyl-CpG DNA binding|Methyl-CpG DNA binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2566.83	159	chr12	57524769	.	C	T	2566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=341;ExcessHet=0;FS=3.76;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.11;SOR=0.909	GT:AD:DP:GQ:PL	0/1:66,93:159:99:2577,0,1541	5	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.08333	1843.83	143	chr12	57765390	.	C	G	1843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.015;DP=323;ExcessHet=0;FS=5.141;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.42;SOR=1.108	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1854,0,1959	5	0	1	0
chr12	68295258	68295258	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon13:c.C1301T:p.T434I,MDM1:NM_001205028:exon14:c.C2036T:p.T679I,MDM1:NM_001354970:exon14:c.C2021T:p.T674I,MDM1:NM_001368282:exon14:c.C1331T:p.T444I,MDM1:NM_017440:exon14:c.C2141T:p.T714I,MDM1:NM_001354969:exon15:c.C2171T:p.T724I,MDM1:NM_001354972:exon15:c.C1331T:p.T444I,MDM1:NM_001354973:exon15:c.C1331T:p.T444I,MDM1:NM_001354971:exon16:c.C1331T:p.T444I	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0100387181515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	0	2.759e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.012704	0.29081	N	0.376025	0.992209	0.23919	N	2.39	0.68882	M	1.98	0.21865	T	-2.64	0.62343	D	0.234	0.30914	-1.0484	0.14846	T	0.061	0.25635	T	9	0.1809578	0.33305	T	0.010039	0.26102	T	0.107	0.30369	0.355	0.35571	0.130388298395	0.12655	0.04269941965831144	0.04214	0.25274736614	0.27838	0.56364941597	0.47782	T	0.449467	0.79095	T	-0.113322	0.34219	T	-0.400556	0.33319	T	0.857456088066101	0.50821	D	0.878312	0.68959	D	0.09045821	0.21167	0.13050756	0.31357	0.09045821	0.21167	0.13050756	0.31356	-6.118	0.47256	T	.	.	0.361	0.64699	A	.;.;.	.;.;.	3.236178	0.44156	21.9	0.99763498255875727	0.85254	0.42017	0.26785	N	AEFBI	0.081200	0.16429	N	-0.117553780362421	0.36629	2.119778	-0.15182416263869	0.33339	1.905995	0.952013273101996	0.27990	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.57	3.44	0.38486	0.758000	0.26113	4.183000	0.42351	0.676000	0.76740	0.318000	0.25485	1.000000	0.68203	0.035000	0.13729	0.0877:0.1315:0.4841:0.2966	3.285	0.06520	931	0.16308	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	547.83	46	chr12	68295258	.	G	A	547.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.258;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-2.869;SOR=0.693	GT:AD:DP:GQ:PL	0/1:21,25:46:99:558,0,500	5	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	86.67	74	chr12	70635944	.	G	A	86.67	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.231;DP=331;ExcessHet=0;FS=104.756;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=-0.352;SOR=7.541	GT:AD:DP:GQ:PL	0/1:51,23:74:94:94,0,1039	3	0	1	2
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1043.83	112	chr12	71699085	.	T	G	1043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.999;DP=287;ExcessHet=0;FS=3.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.365;SOR=0.416	GT:AD:DP:GQ:PL	0/1:69,43:112:99:1054,0,1888	5	0	1	0
chr12	89525926	89525926	G	A	exonic	POC1B-GALNT4	.	nonsynonymous SNV	POC1B-GALNT4:NM_001199782:exon1:c.C230T:p.P77L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0036	0.00259585	0.0103	0.0020	0.0153	0	0.0098	0.0168	0	0.0053	0.0021216	328	154602	rs200496430	0.0044	0.0043	0.0044	0.0043	0.0051	0.0043	0.0042	0.0050	0.0050	0.0008	0.0032	0.0009	0	0.0009	0.0015	0.0051	0.0039	0.0017	0.0030	0.0030	0.0033	0.0026	0.0045	0.0027	0.0027	0.0041	0.0040	0.0008	0.0121	0.0044	0.0017	0	0.0006	0.0068	0.0045	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003751	0.029070	0.002778	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1454.83	78	chr12	89525926	.	G	A	1454.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.588;DP=277;ExcessHet=0;FS=4.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=1.38;SOR=0.456	GT:AD:DP:GQ:PL	0/1:26,52:78:99:1465,0,713	5	0	1	0
chr12	95881493	95881493	C	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon11:c.G982A:p.V328I	.	.	.	.	.	.	.	.	.	.	.	2333833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00449349024645	7.7e-05	.	7.435e-05	9.653e-05	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs118134418	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	3.006e-05	0.0001	0	5.098e-05	0	0.0002	0.0004	0.0001	2.348e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	9.661e-05	0	6.553e-05	0	0	0	0	0.0003	0	0	0.39	0.10838	T	0.222	0.25748	T	0.001	0.07471	B	0.0	0.01387	B	0.281371	0.03836	N	1.435820	1	0.08975	N	-0.345	0.03330	N	1.6	0.28604	T	0.05	0.06369	N	0.088	0.06587	-1.0430	0.16413	T	0.031	0.13155	T	10	0.022523642	0.00565	T	0.004493	0.11031	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.062409515696679525	0.06180	0.0468924385657	0.05106	0.350637644529	0.18015	T	7.31E-4	0.00340	T	-0.597745	0.00150	T	-0.794675	0.02039	T	0.0127547685888243	0.00216	T	0.155284	0.01352	T	0.023115678	0.01025	0.025249919	0.00564	0.023115678	0.01025	0.025249919	0.00563	-1.021	0.01023	T	.	.	0.074	0.05274	B	.	.	0.413753	0.07843	4.542	0.79762706950628215	0.12889	0.01461	0.04883	N	AEFDBIJ	0.024338	0.01490	N	-1.54345926993087	0.01573	0.06873234	-1.4933249293723	0.02398	0.1102437	0.998325092595549	0.36758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.15	0.025	0.13464	0.704000	0.25336	2.003000	0.30130	-0.665000	0.04339	0.027000	0.20232	0.003000	0.18671	0.036000	0.13842	0.4595:0.3098:0.0828:0.1479	2.301	0.03908	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	757.83	66	chr12	95881493	.	C	T	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.008;DP=242;ExcessHet=0;FS=3.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.566;SOR=0.386	GT:AD:DP:GQ:PL	0/1:31,35:66:99:768,0,627	5	0	1	0
chr12	100391041	100391041	T	C	exonic	SLC17A8	.	nonsynonymous SNV	SLC17A8:NM_001145288:exon3:c.T395C:p.I132T,SLC17A8:NM_139319:exon3:c.T395C:p.I132T	Deafness, autosomal dominant 25, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.0596585814101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.984	0.60733	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.16	0.88528	M	0.25	0.59449	T	-4.19	0.75615	D	0.94	0.94668	0.134	0.84783	D	0.463	0.79207	T	10	0.879972	0.87304	D	0.059659	0.67740	D	0.719	0.90056	0.629	0.76478	0.665091151413	0.66227	0.8875927744263518	0.88728	0.630137594049	0.57018	0.850524187088	0.89694	D	0.705884	0.91571	D	0.330516	0.85200	D	0.236987	0.85005	D	0.998194634914398	0.93480	D	0.990776	0.97178	D	0.7773718	0.82492	0.71964496	0.83448	0.7773718	0.82494	0.71964496	0.83449	-11.607	0.82884	D	0.4496707409131112	0.53370	0.979	0.94573	P	.;.	.;.	4.969671	0.82239	27.7	0.99855844564950735	0.93458	0.99464	0.96353	D	AEFI	0.896682	0.83801	D	0.867550611298972	0.90083	10.24578	0.803594506541489	0.90043	10.23091	0.999893006223778	0.45129	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	7.627000	0.82366	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.457	0.75046	633	0.64743	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	.	.	.	.	.	.	.	.	0.08333	1380.83	106	chr12	100391041	.	T	C	1380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.829;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.967;SOR=0.763	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1391,0,1343	5	0	1	0
chr12	113940054	113940054	C	T	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon15:c.G1844A:p.R615H,RBM19:NM_001146699:exon15:c.G1844A:p.R615H,RBM19:NM_016196:exon15:c.G1844A:p.R615H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0498388664586	.	.	2.486e-05	0	0	0.0001	0	3.019e-05	0	0	1.94e-05	3	154602	rs760073881	2.258e-05	2.326e-05	2.042e-05	2.475e-05	4.472e-05	1.61e-05	1.416e-05	1.663e-05	1.425e-05	0	4.472e-05	0	2.519e-05	0	0	2.428e-05	0	3.478e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000009	0.62929	D	0.064467	1	0.81001	D	3.855	0.95805	H	3.06	0.08634	T	-4.81	0.80767	D	0.726	0.73465	-0.9068	0.47238	T	0.092	0.35174	T	10	0.76770884	0.76835	D	0.049839	0.63984	D	0.358	0.67872	0.543	0.65589	0.37097340754	0.36704	0.7461113284027338	0.74557	0.640975438989	0.57713	0.763577997684	0.76462	T	0.557277	0.85117	D	-0.0963601	0.37025	T	-0.178548	0.56657	T	0.995220601558685	0.87048	D	0.980702	0.93402	D	0.59008515	0.72155	0.39403844	0.64108	0.59008515	0.72157	0.39403844	0.64108	-10.234	0.75300	D	.	.	0.178	0.39664	B	.;.;.	.;.;.	4.960254	0.82006	27.7	0.99953374747034418	0.99957	0.97796	0.77196	D	AEFDBI	0.814299	0.73656	D	0.702327802314693	0.79786	7.15165	0.586462351695474	0.73969	6.058026	0.999999995796767	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	7.189000	0.77281	4.625000	0.44092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:1.0:0.0:0.0	16.765	0.85382	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4;RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4;RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.83	101	chr12	113940054	.	C	T	1526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.374;DP=314;ExcessHet=0;FS=1.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=1.01;SOR=0.546	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1537,0,1041	5	0	1	0
chr12	123893297	123893297	A	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon52:c.A8706T:p.E2902D,DNAH10:NM_001372106:exon53:c.A9060T:p.E3020D	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0235811123721	.	.	0.0001	0	8.652e-05	0	0	6.003e-05	0	0.0007	0.00011	17	154602	rs777869489	0.0001	0.0001	9.393e-05	0.0001	0.0021	0.0001	9.634e-05	0.0012	0.0009	0	6.708e-05	0	0	0	0.0021	7.375e-05	0.0001	0.0008	6.564e-05	6.561e-05	6.422e-05	6.711e-05	0.0008	3.513e-05	2.614e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	7.349e-05	0	0.0008	.	.	.	.	.	.	0.047	0.21998	B	0.131	0.32951	B	0.000040	0.55875	U	0.071448	0.995783	0.42855	D	1.17	0.29769	L	.	.	.	.	.	.	.	.	-1.0426	0.16532	T	0.090	0.34518	T	10	0.04040879	0.02607	T	0.023581	0.46546	T	0.206	0.49396	0.256	0.19689	0.137902524267	0.13322	0.5309527272611095	0.53019	0.162595922452	0.18349	0.408998847008	0.26319	T	0.008976	0.08204	T	-0.386144	0.02848	T	-0.42136	0.30919	T	0.0391243366638397	0.03532	T	0.760524	0.38496	T	0.100627355	0.23761	0.13238193	0.31769	0.100627355	0.23761	0.13238193	0.31768	-7.247	0.55818	T	.	.	0.126	0.26700	B	.;.	.;.	1.314482	0.17179	13.01	0.58200667334192635	0.05939	0.77372	0.38034	D	AEFBI	0.260262	0.37844	N	-1.09257697679092	0.06779	0.3130461	-1.12997678377261	0.07132	0.3458026	0.0019095660349062	0.08993	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	-4.13	0.03639	0.235000	0.17727	0.428000	0.18294	-0.208000	0.08445	0.984000	0.35821	0.964000	0.29435	0.421000	0.27250	0.742:0.0:0.258:0.0	13.008	0.58124	684	0.59539	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2403.83	175	chr12	123893297	.	A	T	2403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.633;DP=389;ExcessHet=0;FS=0.558;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.341;SOR=0.636	GT:AD:DP:GQ:PL	0/1:78,97:175:99:2414,0,1995	5	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.08333	1043.83	81	chr12	123916480	.	C	A	1043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.63;DP=260;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.213;SOR=0.507	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1054,0,1066	5	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich 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	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.08333	2188.83	171	chr13	20189125	.	C	T	2188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=387;ExcessHet=0;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-2.249;SOR=0.764	GT:AD:DP:GQ:PL	0/1:91,80:171:99:2199,0,2395	5	0	1	0
chr13	23659086	23659086	C	T	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204459:exon4:c.C86T:p.T29M,TNFRSF19:NM_001204458:exon6:c.C482T:p.T161M,TNFRSF19:NM_001354985:exon6:c.C482T:p.T161M,TNFRSF19:NM_018647:exon6:c.C482T:p.T161M,TNFRSF19:NM_148957:exon6:c.C482T:p.T161M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.011685078421	0.0002	.	7.472e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs139502219	5.063e-05	5.267e-05	5.446e-05	4.676e-05	3.687e-05	4.126e-05	3.779e-05	2.743e-05	2.468e-05	0	0	0.0010	0	1.88e-05	0	3.687e-05	9.935e-05	1.159e-05	9.194e-05	9.187e-05	8.995e-05	9.403e-05	0.0002	5.525e-05	4.362e-05	7.91e-05	5.995e-05	0	0	0	0.0009	0	0	0	0.0001	0	0.0002	0.005	0.65419	D	0.033	0.65728	D	1.0	0.90584	D	0.99	0.78936	D	0.000057	0.53742	D	0.198899	0.994659	0.42364	D	2.735	0.79925	M	1.99	0.21666	T	-2.59	0.65512	D	0.465	0.51583	-0.9904	0.32500	T	0.147	0.47219	T	10	0.1870454	0.34197	T	0.011685	0.29546	T	0.137	0.36984	.	.	0.344251166708	0.34027	0.5578449823845059	0.55711	0.483897842748	0.47323	0.469145029783	0.34563	T	0.722741	0.92177	D	-0.208146	0.19641	T	-0.35086	0.39107	T	0.588484588943067	0.35947	D	0.927407	0.73262	D	0.11074885	0.26174	0.15158053	0.35700	0.11074885	0.26174	0.15158053	0.35699	-7.094	0.54717	T	.	.	0.191	0.40984	B	.;.;.;.	.;.;.;.	4.545194	0.71481	25.7	0.99922305845920378	0.98852	0.98556	0.84054	D	AEFDBI	0.444928	0.50162	N	0.698232701191237	0.79516	7.094152	0.686630873588046	0.81363	7.509094	0.999999999939255	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	4.508000	0.60161	3.962000	0.40756	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.969000	0.54022	0.0:1.0:0.0:0.0	19.984	0.97341	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	931.83	63	chr13	23659086	.	C	T	931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=234;ExcessHet=0;FS=0.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.366;SOR=0.968	GT:AD:DP:GQ:PL	0/1:29,34:63:99:942,0,678	5	0	1	0
chr13	27581392	27581392	A	T	exonic	LNX2	.	nonsynonymous SNV	LNX2:NM_153371:exon2:c.T312A:p.H104Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0029	0.00339457	0.0034	0.0007	0.0020	0.0001	0.0003	0.0028	0.0047	0.0118	0.0030789	476	154602	rs78036110	0.0036	0.0036	0.0033	0.0039	0.0108	0.0035	0.0035	0.0102	0.0100	0.0005	0.0013	0.0002	2.544e-05	0.0007	0.0026	0.0036	0.0031	0.0108	0.0022	0.0022	0.0021	0.0023	0.0128	0.0020	0.0019	0.0103	0.0094	0.0004	0	0.0012	0	0	0.0005	0	0.0033	0.0052	0.0128	0.234	0.18061	T	0.285	0.21343	T	0.255	0.31319	B	0.075	0.28327	B	0.000000	0.84330	D	0.047100	0.992138	0.41564	D	2.645	0.77386	M	3.53	0.04852	T	-0.08	0.08187	N	0.464	0.50056	-1.0309	0.20163	T	0.016	0.06329	T	10	0.0061876774	0.00139	T	.	.	.	0.155	0.40530	0.362	0.36711	0.379707525713	0.37584	0.5221008302474052	0.52133	1.65865075103	0.89645	0.691616415977	0.65938	T	0.01814	0.14677	T	-0.48714	0.00674	T	-0.463124	0.26260	T	0.0253505820473104	0.01319	T	0.79772	0.44184	T	0.41812468	0.61967	0.1727954	0.39561	0.41812468	0.61967	0.1727954	0.39560	-6.824	0.52737	T	.	.	0.325	0.56429	B	.;.	.;.	2.101171	0.26736	17.22	0.95580705661214393	0.27287	0.77272	0.37974	D	AEBI	0.125822	0.24249	N	-0.409541275731536	0.25133	1.362146	-0.382942115030746	0.25506	1.403045	0.938362011261574	0.27339	0.651	0.46895	0	0.487994	0.07600	2	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.06	-3.94	0.03856	0.437000	0.21261	1.614000	0.27651	0.756000	0.94297	0.993000	0.37899	0.999000	0.35428	0.995000	0.73285	0.4664:0.1083:0.4253:0.0	9.089	0.35762	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1931.83	119	chr13	27581392	.	A	T	1931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.84;DP=302;ExcessHet=0;FS=3.375;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=0.232;SOR=1.005	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1942,0,1133	5	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	.	.	.	.	.	.	.	.	0.1667	157.15	143	chr13	38859428	.	G	C	157.15	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.469;DP=678;ExcessHet=0.4139;FS=228.055;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.96;SOR=10.236	GT:AD:DP:GQ:PL	0/1:82,48:143:99:157,0,1478	4	0	2	0
chr13	41960973	41960973	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon1:c.G43A:p.G15S,VWA8:NM_015058:exon1:c.G43A:p.G15S	.	416	1105	1	0	0	1	0.000452284	.	.	.	2378284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0362981337653	.	0.000199681	0.0009	0	0	0	.	0	0	0.0012	5.17e-05	8	154602	rs543752211	8.376e-05	9.508e-05	6.901e-05	9.915e-05	0.0006	7.073e-05	6.544e-05	0.0005	0.0004	0	5.203e-05	0	0	0	0.0005	5.037e-05	0.0002	0.0006	5.267e-05	5.255e-05	2.575e-05	8.085e-05	0.0008	2.562e-05	1.833e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.885e-05	0	0.0008	0.123	0.27783	T	0.273	0.24334	T	0.002	0.09854	B	0.001	0.04355	B	0.115061	0.19250	N	0.380135	1	0.19694	N	0.69	0.16971	N	2.99	0.11189	T	-0.29	0.11728	N	0.182	0.22098	-0.9365	0.43164	T	0.011	0.04227	T	9	0.0149948895	0.00315	T	0.036298	0.56900	D	0.021	0.04004	0.138	0.04187	0.0138822411134	0.00435	0.5241238916073064	0.52336	0.05544687542	0.06136	0.787502706051	0.80063	T	0.01363	0.11757	T	-0.497982	0.00587	T	-0.545868	0.17725	T	0.0339001949536185	0.02621	T	0.686031	0.29438	T	0.039814997	0.05566	0.080718875	0.18285	0.039814997	0.05566	0.080718875	0.18284	-4.465	0.30428	T	.	.	0.118	0.24260	B	.;.	.;.	1.753376	0.22303	15.57	0.89693248801926118	0.19018	0.12979	0.17593	N	ALL	0.051487	0.09100	N	-1.15828611943011	0.05645	0.257873	-1.1245828515336	0.07233	0.351031	0.999999999997828	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.11	2.33	0.27981	0.127000	0.15617	-0.038000	0.12706	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.686:0.2029:0.1111	5.562	0.16437	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	.	.	.	.	.	.	.	.	0.08333	189.83	14	chr13	41960973	.	C	T	189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=100;ExcessHet=0;FS=5.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.251;SOR=2.303	GT:AD:DP:GQ:PL	0/1:8,6:14:99:200,0,141	5	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,39:115:99:0|1:42303097_G_C:381,0,1654:42303097	1	0	5	0
chr13	46372316	46372316	T	C	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon2:c.A160G:p.I54V,RUBCNL:NM_001349772:exon2:c.A160G:p.I54V,RUBCNL:NM_001286761:exon3:c.A160G:p.I54V,RUBCNL:NM_025113:exon3:c.A160G:p.I54V	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00696761663904	0.0004	0.000599042	0.0007	0.0002	0.0008	0	0	0.0005	0.0011	0.0025	0.0005757	89	154602	rs141876988	0.0004	0.0004	0.0003	0.0004	0.0102	0.0004	0.0003	0.0081	0.0074	0.0001	0.0008	0.0042	0	0	0.0102	0.0001	0.0007	0.0019	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0021	0.0017	9.625e-05	0	0.0015	0.0052	0	0	0.0102	0.0001	0.0024	0.0033	0.334	0.32929	T	0.778	0.07919	T	0.022	0.20876	B	0.011	0.20255	B	0.034142	0.24806	N	0.344393	1	0.81001	D	.	.	.	0.67	0.56937	T	-0.29	0.23156	N	0.06	0.03726	-1.0389	0.17648	T	0.085	0.33128	T	10	0.008388102	0.00190	T	0.006968	0.18458	T	0.028	0.06331	.	.	0.0666544352282	0.05500	0.0644000911862818	0.06379	0.0288044555804	0.02965	0.341280758381	0.16630	T	0.005824	0.05268	T	-0.53593	0.00354	T	-0.549079	0.17414	T	0.0130972660668552	0.00230	T	0.623938	0.25039	T	0.09303918	0.21842	0.033862174	0.02353	0.09303918	0.21842	0.033862174	0.02353	-2.938	0.09528	T	.	.	0.111	0.51815	B	.;.;.;.	.;.;.;.	0.432734	0.08032	4.751	0.89859391489497698	0.19165	0.54124	0.29539	D	AEFBI	.	.	.	-0.670867271364893	0.16855	0.8624038	-0.591687659017384	0.19709	1.058648	0.999579576148309	0.40495	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.57	-0.0406	0.13199	0.095000	0.14966	-0.063000	0.12399	0.665000	0.62972	0.995000	0.38783	0.884000	0.27742	0.129000	0.19529	0.0:0.176:0.3283:0.4957	4.444	0.11011	913	0.21160	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.008152	0.020468	0.050000	0.000000	0.000000	0.003788	0.1667	3608.04	106	chr13	46372316	.	T	C	3608.04	.	AC=2;AF=0.167;AN=12;DP=307;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.04;SOR=0.896	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3628,318,0	5	1	0	0
chr13	49220340	49220340	G	A	exonic	MLNR	.	startloss	MLNR:NM_001507:exon1:c.G3A:p.M1?	.	433	1058	29	2	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	.	0.00479233	0	0	.	0	.	0	0	0	0.0006404	99	154602	rs372763744	0.0062	0.0056	0.0058	0.0066	0.0177	0.0060	0.0060	0.0168	0.0164	0.0007	0.0085	0.0036	0.0001	0.0089	0.0117	0.0057	0.0070	0.0177	0.0048	0.0048	0.0052	0.0045	0.0156	0.0045	0.0044	0.0128	0.0117	0.0008	0	0.0064	0.0035	0	0.0068	0.0276	0.0062	0.0071	0.0156	0.02	0.49613	D	0.148	0.32675	T	0.963	0.55692	D	0.549	0.49194	P	0.000765	0.41888	U	0.104565	0.999962	0.52935	D	.	.	.	-0.36	0.68754	T	-1.02	0.26843	N	0.783	0.77978	-0.3234	0.74327	T	0.335	0.70182	T	9	0.015151739	0.00318	T	.	.	.	0.420	0.72930	0.977	0.99785	0.847761603604	0.84629	0.4019045423288962	0.40106	.	.	.	.	.	0.026416	0.19553	T	-0.167037	0.25684	T	0.00354358	0.70565	D	0.0671573362189728	0.08246	T	0.9	0.65058	D	0.61442816	0.73465	0.45621848	0.68392	0.61442816	0.73466	0.45621848	0.68392	-9.405	0.70266	D	.	.	.	.	.	.	.	2.523876	0.32617	19.10	0.98712100844934947	0.45069	0.76434	0.37486	D	AEFDBHCIJ	0.017900	0.00502	N	0.176614935791642	0.50078	3.201316	0.135532556535436	0.46379	2.884915	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	4.34	0.51267	0.962000	0.28877	6.214000	0.55048	0.582000	0.30178	0.817000	0.29947	1.000000	0.68203	0.028000	0.12845	0.0:0.0:1.0:0.0	13.991	0.63881	660	0.61921	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011905	0.1667	861.05	24	chr13	49220340	.	G	A	861.05	.	AC=2;AF=0.167;AN=12;DP=107;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.19;SOR=4.977	GT:AD:DP:GQ:PL	1/1:0,24:24:72:881,72,0	5	1	0	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	490.96	102	chr13	69882456	.	G	A	490.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.995;DP=617;ExcessHet=3.1439;FS=210.877;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.597;SOR=10.694	GT:AD:DP:GQ:PL	0/1:61,36:102:99:130,0,1013	2	0	4	0
chr13	72747026	72747026	T	C	exonic	BORA	.	nonsynonymous SNV	BORA:NM_001366664:exon8:c.T1244C:p.I415T,BORA:NM_001286747:exon9:c.T1187C:p.I396T,BORA:NM_001286746:exon10:c.T1397C:p.I466T,BORA:NM_024808:exon10:c.T1397C:p.I466T	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0216236484094	0.0002	.	4.97e-05	0	0	0.0001	0	5.995e-05	0.0011	0	3.88e-05	6	154602	rs376758174	6.294e-05	6.293e-05	7.079e-05	5.501e-05	0.0003	5.228e-05	4.846e-05	8.862e-05	6.428e-05	2.988e-05	0.0002	0	2.519e-05	0	0.0003	6.565e-05	0.0001	0	6.57e-05	6.567e-05	7.707e-05	5.379e-05	8.819e-05	3.516e-05	2.616e-05	3.761e-05	2.575e-05	4.824e-05	0	6.545e-05	0	0	0	0	8.819e-05	0.0005	0	0.007	0.59928	D	0.08	0.44106	T	0.959	0.55135	D	0.647	0.52336	P	0.000741	0.42129	D	0.291664	0.992289	0.41604	D	.	.	.	0.59	0.53943	T	-1.65	0.39503	N	0.716	0.76296	-0.6519	0.62631	T	0.228	0.59346	T	10	0.6738906	0.70875	D	0.021624	0.44424	T	0.059	0.16972	.	.	0.754186001081	0.75195	0.5923435582254347	0.59164	0.841208887519	0.68079	0.650505721569	0.60058	T	0.073221	0.35474	T	-0.0775401	0.40114	T	-0.152186	0.59050	T	0.126150027795523	0.15022	T	0.89951	0.64815	D	.	.	.	.	.	.	.	.	-2.32	0.04666	T	.	.	0.356	0.56990	A	.;.;.	.;.;.	2.636895	0.34303	19.59	0.99371013469582936	0.61455	0.95508	0.65000	D	AEFGBI	0.400239	0.47520	N	0.374165814204146	0.60026	4.18721	0.409221338544907	0.62139	4.424381	0.999998941178464	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	3.212000	0.50847	4.826000	0.45158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	14.891	0.70247	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1582.83	110	chr13	72747026	.	T	C	1582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=288;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.48;SOR=0.777	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1593,0,1207	5	0	1	0
chr13	77699039	77699039	G	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001040153:exon1:c.G116A:p.G39E,SLAIN1:NM_001366665:exon1:c.G116A:p.G39E	.	.	.	.	.	.	.	.	.	.	.	3208241	SLAIN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.068	.	.	0.00738818	0.0007	0	0	0.0303	0	0	0.0076	0.0001	0.0005757	89	154602	rs142503713	0.0009	0.0009	0.0009	0.0009	0.0312	0.0009	0.0009	0.0297	0.0291	9.501e-05	8.405e-05	7.943e-05	0.0312	0	0.0002	1.669e-05	0.0022	0.0004	0.0015	0.0015	0.0015	0.0015	0.0366	0.0013	0.0013	0.0323	0.0307	0.0003	0	0.0008	0	0.0366	0	0	4.41e-05	0.0009	0.0019	0.0	0.91255	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	.	.	.	1.23	0.01037	N	0.076	0.05037	-1.0340	0.19173	T	0.030	0.12979	T	7	0.0023901463	0.00035	T	.	.	.	0.068	0.19811	.	.	0.043077524339	0.03247	.	.	0.515258437671	0.49436	.	.	.	.	.	.	-0.655095	0.00067	T	-0.688708	0.06464	T	0.0341432799525746	0.02662	T	0.374163	0.08891	T	.	.	.	.	.	.	.	.	-4.009	0.23938	T	.	.	0.127	0.26947	B	.	.	0.973838	0.13511	10.03	0.91823794720550389	0.21132	0.04887	0.10631	N	AEFDGBHCI	0.051475	0.09097	N	-0.825972306448281	0.12649	0.617888	-0.854828220082659	0.13172	0.6818538	0.999999997695797	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.449817	0.06638	2	0.618803	0.45993	0	.	.	4.65	0.919	0.18518	0.234000	0.17708	0.675000	0.20627	0.676000	0.76740	0.027000	0.20232	0.228000	0.23763	0.041000	0.14368	0.3374:0.0:0.6626:0.0	7.446	0.26384	136	0.94604	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	682.83	46	chr13	77699039	.	G	A	682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.751;DP=221;ExcessHet=0;FS=4.395;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.563;SOR=0.262	GT:AD:DP:GQ:PL	0/1:21,25:46:99:693,0,597	5	0	1	0
chr13	99970413	99970413	-	GGCGGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1262_1263insGCCGCC:p.P424_A425insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs1396446119	0.0039	0.0027	0.0039	0.0038	0.0040	0.0038	0.0037	0.0039	0.0039	0.0036	0.0008	0.0017	0.0025	7.718e-05	0.0032	0.0040	0.0033	0.0035	0.0051	0.0051	0.0054	0.0048	0.0131	0.0048	0.0046	0.0101	0.0091	0.0043	0	0.0056	0.0057	0.0131	0.0019	0	0.0053	0.0030	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1420.7	44	chr13	99970413	.	T	TGGCGGC	1420.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.299;DP=251;ExcessHet=1.383;FS=3.189;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.94;SOR=0.395	GT:AD:DP:GQ:PL	0/1:28,16:44:99:586,0,1085	5	0	1	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	160.83	124	chr13	99982726	.	T	C	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.221;DP=425;ExcessHet=0;FS=146.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.075;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,24:124:99:0|1:99982726_T_C:171,0,3276:99982726	5	0	1	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	160.83	124	chr13	99982727	.	G	A	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.638;DP=371;ExcessHet=0;FS=146.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.453;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,24:124:99:0|1:99982726_T_C:171,0,3276:99982726	5	0	1	0
chr13	102737972	102737972	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A12725G:p.E4242G	.	403	1094	25	0	0	25	0.0112969	.	.	.	904577	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0050	0.0009	0.0048	0	0	0.0071	0.0155	0.0039	0.0017335	268	154602	rs112442443	0.0074	0.0071	0.0073	0.0074	0.0325	0.0072	0.0072	0.0287	0.0272	0.0014	0.0040	0.0015	0	0.0064	0.0325	0.0083	0.0069	0.0031	0.0056	0.0056	0.0057	0.0054	0.0091	0.0052	0.0051	0.0085	0.0083	0.0015	0.0011	0.0052	0.0006	0	0.0041	0.0170	0.0091	0.0062	0.0035	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0039803684	0.00077	T	.	.	.	.	.	.	.	0.148003135375	0.14442	0.11800615636849889	0.11727	.	.	0.273595511913	0.06614	T	.	.	.	-0.507436	0.00519	T	-0.493712	0.23001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	1.165643	0.15551	11.93	0.63801428211508693	0.07321	0.00755	0.03133	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.980156937479211	0.30104	0.07523	0.01759	0	0.059962	0.00310	0	0.063197	0.01477	0	0.091162	0.02695	0	0.0582052	0.13933	1.08	-0.153	0.12747	-0.230000	0.09093	0.102000	0.14662	0.609000	0.47794	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.0:0.3125:0.0:0.6875	2.902	0.05359	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	0.016990	0.010753	0.021429	0.048673	0.071429	0.000000	0.006024	0.000000	0.08333	2082.83	175	chr13	102737972	.	T	C	2082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.957;DP=709;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.151;SOR=0.784	GT:AD:DP:GQ:PL	0/1:102,73:175:99:2093,0,2917	5	0	1	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5162.16	204	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	*	5162.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.309;DP=697;ExcessHet=0.7136;FS=1.819;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.22;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,124:204:99:0|1:112547505_C_T:4695,0,2871:112547505	4	0	2	0
chr14	18985413	18985413	C	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon7:c.C1129G:p.Q377E	.	749	761	12	0	0	12	0.00782269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000995831050359	.	.	0.0014	0	0.0031	0.0007	0	0.0008	0.0045	0.0043	3.84e-05	1	26028	rs201133679	0.0017	0.0067	0.0017	0.0017	0.0213	0.0016	0.0016	0.0198	0.0192	0.0004	0.0213	0.0054	0.0013	0.0005	0.0016	0.0011	0.0019	0.0023	0.0011	0.0032	0.0012	0.0009	0.0039	0.0009	0.0008	0.0027	0.0023	0.0005	0	0.0039	0.0017	0.0017	0	0	0.0009	0.0021	0.0008	0.025	0.47320	D	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.68	0.19509	N	0.15	0.15328	-0.9541	0.40256	T	0.032	0.13548	T	9	0.0067068934	0.00152	T	9.96E-4	0.01050	T	.	.	0.268	0.21576	0.0138822411134	0.00435	0.023526008375047404	0.02304	.	.	0.650385797024	0.60041	T	0.001799	0.01223	T	-0.209333	0.19474	T	-0.538469	0.18446	T	0.0223406448157293	0.00947	T	0.608239	0.22965	T	0.08524681	0.19765	0.14990585	0.35376	0.08524681	0.19764	0.14990585	0.35375	-1.958	0.03026	T	.	.	0.067	0.02370	B	.	.	0.270675	0.06484	2.960	0.79974958318614919	0.12987	0.00315	0.01661	N	AEFI	0.021473	0.00960	N	-1.44666217930686	0.02243	0.09884121	-1.55002631544704	0.01976	0.09023787	5.99962833003407E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-2.36	0.06282	-0.376000	0.07522	.	.	0.284000	0.18682	0.051000	0.21449	0.000000	0.08366	0.038000	0.14061	0.0:0.4072:0.5928:0.0	8.085	0.29928	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005383	0.008197	0.005510	0.008850	0.000000	0.008929	0.007353	0.004167	0.1667	192.07	40	chr14	18985413	.	C	G	192.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=249;ExcessHet=0.4139;FS=4.301;MLEAC=2;MLEAF=0.167;MQ=34.35;MQRankSum=0.621;QD=1.59;ReadPosRankSum=0.052;SOR=0.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,8:40:99:0|1:18985413_C_G:181,0,1260:18985413	4	0	2	0
chr14	21081510	21081510	C	T	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon14:c.C500T:p.A167V,ARHGEF40:NM_001278530:exon14:c.C500T:p.A167V,ARHGEF40:NM_018071:exon14:c.C2642T:p.A881V	.	425	1096	1	0	0	1	0.000455996	0.0022	0.224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.010246744439	.	.	2.621e-05	0	0	0	0	4.771e-05	0	0	2.59e-05	4	154602	rs767200888	2.876e-05	2.873e-05	3.815e-05	1.927e-05	0.0016	2.153e-05	1.909e-05	0.0008	0.0006	2.988e-05	0	0	0	0	0.0016	2.788e-05	1.657e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.05	0.39575	D	0.03	0.54159	D	0.379	0.34321	B	0.048	0.24975	B	0.001164	0.39978	N	0.113101	0.921452	0.36690	D	1.78	0.46185	L	4.0	0.03239	T	-1.77	0.41809	N	0.425	0.46462	-0.8272	0.53480	T	0.008	0.02638	T	10	0.19008955	0.34637	T	0.010247	0.26566	T	0.172	0.43662	0.363	0.36874	0.37281450598	0.36888	0.4696241551435929	0.46881	0.262106543291	0.28775	0.821040630341	0.85187	D	0.020207	0.15954	T	-0.18223	0.23405	T	-0.423297	0.30697	T	0.0992979789363566	0.12280	T	0.752925	0.37500	T	0.0633829	0.13341	0.08923936	0.20857	0.0633829	0.13341	0.08923936	0.20856	-6.819	0.52700	T	.	.	0.281	0.51359	B	.	.	3.526624	0.49461	22.8	0.99816065575637503	0.89973	0.91375	0.53407	D	AEFDBI	0.234928	0.35761	N	-0.463329216384316	0.23290	1.249652	-0.325314382976006	0.27283	1.512858	0.99999177777808	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.66	3.84	0.43422	3.539000	0.53359	2.733000	0.34404	-0.182000	0.10109	0.997000	0.40164	0.996000	0.32793	0.977000	0.56843	0.0:0.8165:0.0:0.1835	7.802	0.28344	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1937.83	178	chr14	21081510	.	C	T	1937.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=387;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.411;SOR=0.588	GT:AD:DP:GQ:PL	0/1:101,77:178:99:1948,0,2666	5	0	1	0
chr14	22774471	22774471	T	G	exonic	SLC7A7	.	nonsynonymous SNV	SLC7A7:NM_003982:exon8:c.A1128C:p.E376D,SLC7A7:NM_001126105:exon9:c.A1128C:p.E376D,SLC7A7:NM_001126106:exon9:c.A1128C:p.E376D	Lysinuric protein intolerance, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	328916	Lysinuric_protein_intolerance|Autoinflammatory_syndrome	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0173058405061	0.0004	.	0.0001	0	8.637e-05	0	0	0.0002	0.0011	0	0.0001552	24	154602	rs139619724	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	7.541e-05	0	0	0.0039	0	0	0.0005	5.216e-05	0.0004	5.797e-05	7.888e-05	7.881e-05	0.0001	4.037e-05	5.881e-05	4.498e-05	3.514e-05	1.972e-05	1.125e-05	0	0	0	0.0023	0	0	0	5.881e-05	0	0	0.312	0.13925	T	0.534	0.14034	T	0.02	0.18235	B	0.072	0.28043	B	0.000000	0.84330	N	0.045500	0.999917	0.52935	D	1.38	0.34346	L	-2.53	0.89430	D	-0.79	0.27463	N	0.31	0.37405	-0.7336	0.58781	T	0.421	0.76637	T	10	0.026293337	0.00800	T	0.017306	0.38957	T	0.289	0.60808	0.507	0.60232	0.454426139905	0.45068	0.6179654629616598	0.61729	0.188844913208	0.21202	0.584623098373	0.50737	T	0.459631	0.79713	T	-0.198545	0.21015	T	-0.274663	0.47349	T	0.020420056590304	0.00742	T	0.827517	0.49142	T	0.1912375	0.40742	0.08491419	0.19568	0.1912375	0.40742	0.08491419	0.19568	-6.432	0.49759	T	.	.	0.139	0.36093	B	.;.;.;.;.;.	.;.;.;.;.;.	1.808306	0.22980	15.84	0.98043183080338425	0.37805	0.41583	0.26689	N	AEFDBHCI	0.399446	0.47472	N	-0.934143520436759	0.10051	0.4784947	-0.809555566861106	0.14264	0.7444435	0.999205900402877	0.38742	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.17	0.938	0.18625	-0.396000	0.07338	-0.510000	0.08751	-0.883000	0.02445	0.147000	0.23610	0.032000	0.21310	0.946000	0.48989	0.2744:0.3494:0.0:0.3762	3.540	0.07364	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	.	.	.	.	.	.	.	.	0.08333	921.83	71	chr14	22774471	.	T	G	921.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.829;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.217;SOR=0.786	GT:AD:DP:GQ:PL	0/1:37,34:71:99:932,0,1002	5	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T	.	415	1085	22	0	0	22	0.0100365	.	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.030303	0.019022	0.017544	0.000000	0.008621	0.006098	0.000000	0.08333	1747.83	95	chr14	24414693	.	C	A	1747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.104;DP=276;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.42;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,58:95:99:1758,0,1109	5	0	1	0
chr14	34776143	34776143	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_182648:exon17:c.A2513G:p.N838S,BAZ1A:NM_013448:exon18:c.A2609G:p.N870S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00566538728155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.06824	T	0.396	0.15206	T	0.0	0.02946	B	0.002	0.06944	B	0.028629	0.25574	N	0.456770	0.997072	0.22800	N	0.345	0.11182	N	-0.59	0.71662	T	-1.12	0.32185	N	0.115	0.12627	-1.0106	0.26729	T	0.095	0.35924	T	10	0.030838162	0.01213	T	0.005665	0.14651	T	0.153	0.40148	0.15	0.05339	0.337947466952	0.33407	0.13818559680344544	0.13742	0.325458230443	0.34698	0.241657584906	0.02942	T	0.023852	0.18130	T	-0.249273	0.14188	T	-0.59584	0.13163	T	0.0380850027632306	0.03347	T	0.785321	0.42297	T	0.010853869	0.00011	0.02101126	0.00168	0.010853869	0.00011	0.02101126	0.00168	-2.226	0.04168	T	.	.	0.066	0.02118	B	.;.;.	.;.;.	0.180162	0.05678	2.126	0.39745307167928684	0.02762	0.23308	0.22034	N	AEFDBHCI	0.061704	0.11816	N	-1.18607860888571	0.05210	0.2369651	-1.16024184279926	0.06586	0.3175015	0.950593025238261	0.27904	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.88	0.05342	0.225000	0.17538	-0.206000	0.10898	0.660000	0.55035	0.044000	0.21163	0.527000	0.25341	0.923000	0.45890	0.2371:0.2202:0.2453:0.2973	0.177	0.00110	958	0.09170	.;WHIM2 domain;WHIM2 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	.	.	.	.	.	.	.	.	0.08333	2049.83	182	chr14	34776143	.	T	C	2049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=359;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.275;SOR=0.821	GT:AD:DP:GQ:PL	0/1:101,81:182:99:2060,0,2680	5	0	1	0
chr14	58442717	58442717	T	C	exonic	KIAA0586	.	startloss	KIAA0586:NM_001244193:exon2:c.T2C:p.M1?,KIAA0586:NM_001244191:exon5:c.T167C:p.M56T,KIAA0586:NM_001329943:exon5:c.T422C:p.M141T,KIAA0586:NM_001329944:exon5:c.T422C:p.M141T,KIAA0586:NM_001329945:exon5:c.T167C:p.M56T,KIAA0586:NM_001329946:exon5:c.T422C:p.M141T,KIAA0586:NM_001329947:exon5:c.T422C:p.M141T,KIAA0586:NM_001364700:exon5:c.T167C:p.M56T,KIAA0586:NM_001364701:exon5:c.T167C:p.M56T,KIAA0586:NM_014749:exon5:c.T422C:p.M141T,KIAA0586:NM_001244190:exon6:c.T377C:p.M126T,KIAA0586:NM_001244192:exon6:c.T290C:p.M97T,KIAA0586:NM_001244189:exon7:c.T581C:p.M194T	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	436	1083	3	0	0	3	0.00138313	.	.	YES	364136	not_provided|Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly	MedGen:C3661900|MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.00259585	0.0100	0.0035	0.0107	0	0.0085	0.0172	0.0036	0.0026	0.0045666	706	154602	rs61735931	0.0069	0.0069	0.0070	0.0068	0.0079	0.0068	0.0067	0.0077	0.0077	0.0010	0.0035	0.0108	0	0.0062	0.0021	0.0079	0.0060	0.0014	0.0052	0.0052	0.0058	0.0046	0.0081	0.0049	0.0048	0.0075	0.0073	0.0012	0	0.0043	0.0147	0	0.0048	0.0068	0.0081	0.0071	0.0008	0.141	0.26085	T	0.184	0.29442	T	0.003	0.11197	B	0.003	0.08700	B	0.412455	0.12978	N	0.743522	0.987928	0.24466	N	1.79	0.46772	L	0.94	0.43672	T	-1.49	0.45404	N	0.317	0.35727	-1.0558	0.12829	T	0.085	0.33071	T	10	0.0061211884	0.00138	T	.	.	.	0.035	0.08770	.	.	0.419461527279	0.41563	0.034933630361693745	0.03440	0.0364822909978	0.03857	0.482556223869	0.36409	T	0.023084	0.40296	T	-0.479391	0.00745	T	-0.450357	0.27659	T	0.00490807195953198	0.00053	T	0.646135	0.25853	T	0.09033674	0.21136	0.093738094	0.22154	0.06946821	0.15223	0.10741381	0.25858	-2.147	0.04331	T	0.37788781660577664	0.47266	0.190	0.40873	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.672116	0.21320	15.15	0.96982581546983893	0.31867	0.48486	0.28218	N	AEFBI	0.022072	0.01058	N	-0.322423808021038	0.28299	1.559688	-0.216178237081725	0.30954	1.747468	0.630434974327654	0.21963	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	1.29	0.20717	0.497000	0.22222	3.417000	0.38227	0.665000	0.62972	0.717000	0.28791	1.000000	0.68203	0.987000	0.62547	0.0:0.2821:0.209:0.5089	3.305	0.06586	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004036	0.010101	0.002717	0.005882	0.050000	0.000000	0.003067	0.000000	0.08333	889.83	63	chr14	58442717	.	T	C	889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=235;ExcessHet=0;FS=2.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.521;SOR=0.389	GT:AD:DP:GQ:PL	0/1:27,36:63:99:900,0,693	5	0	1	0
chr14	60124791	60124791	G	C	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon8:c.G1918C:p.D640H,PCNX4:NM_001330177:exon9:c.G2620C:p.D874H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0154762449571	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs112427833	7.528e-05	7.524e-05	6.264e-05	8.805e-05	0.0010	6.385e-05	5.941e-05	0.0005	0.0003	0	0	0.0002	0	0	0.0010	5.936e-05	0.0001	0.0003	7.224e-05	7.218e-05	6.424e-05	8.061e-05	0.0006	3.969e-05	3.126e-05	0.0002	9.003e-05	0	0	0	0.0003	0	0	0	7.351e-05	0.0009	0.0006	0.058	0.40068	T	0.104	0.41742	T	0.852	0.48942	P	0.27	0.44907	B	0.368433	0.13564	N	0.758330	1	0.08975	N	0.55	0.14455	N	1.91	0.23486	T	-1.45	0.35597	N	0.112	0.12484	-1.0549	0.13066	T	0.057	0.23904	T	10	0.04942599	0.04530	T	0.015476	0.36235	T	0.071	0.20720	.	.	0.0954503805726	0.09146	0.3637324328766041	0.36287	0.035151546196	0.03706	0.24453780055	0.03215	T	0.006659	0.13024	T	-0.487659	0.00670	T	-0.642073	0.09519	T	0.0266830568394097	0.01500	T	0.840516	0.51562	T	0.03719101	0.04720	0.044492107	0.05777	0.03719101	0.04719	0.044492107	0.05777	-3.98	0.23503	T	.	.	0.097	0.24396	B	.;.;.	.;.;.	0.542002	0.09104	5.889	0.95877695170220301	0.28065	0.07980	0.13962	N	AEFGBI	0.118464	0.23163	N	-0.692696069526573	0.16228	0.8249686	-0.844549667373089	0.13418	0.6959841	0.945752616716747	0.27675	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-0.72	0.10631	1.378000	0.33935	4.361000	0.43118	-0.272000	0.06708	0.038000	0.20882	0.801000	0.26950	0.006000	0.07323	0.5785:0.1374:0.2841:0.0	5.376	0.15468	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1692.83	164	chr14	60124791	.	G	C	1692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=352;ExcessHet=0;FS=0.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.095;SOR=0.602	GT:AD:DP:GQ:PL	0/1:97,67:164:99:1703,0,2453	5	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	76.21	134	chr14	63599584	.	C	T	76.21	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.25;DP=660;ExcessHet=0.4139;FS=14.467;MLEAC=1;MLEAF=0.083;MQ=58.96;MQRankSum=-10.37;QD=0.27;ReadPosRankSum=-0.643;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,9:134:2:0|1:63599584_C_T:2,0,5144:63599584	4	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	157.07	136	chr14	63599585	.	T	G	157.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=787;ExcessHet=0.4139;FS=10.74;MLEAC=2;MLEAF=0.167;MQ=58.94;MQRankSum=-10.37;QD=0.55;ReadPosRankSum=-1.662;SOR=2.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,11:136:86:0|1:63599584_C_T:86,0,5138:63599584	4	0	2	0
chr14	69122295	69122295	T	C	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon2:c.A280G:p.I94V,DCAF5:NM_001284207:exon2:c.A34G:p.I12V,DCAF5:NM_001284208:exon2:c.A280G:p.I94V,DCAF5:NM_003861:exon2:c.A280G:p.I94V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00399968796386	0.0002	0.000998403	0.0003	0	8.672e-05	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs149306770	0.0003	0.0003	0.0002	0.0003	0.0073	0.0003	0.0002	0.0055	0.0049	8.961e-05	0.0002	0	0	0	0.0073	0.0002	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.81e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0004	0.467	0.10802	T	1.0	0.02685	T	0.003	0.11197	B	0.001	0.06944	B	0.000887	0.41231	D	0.216774	0.968656	0.38675	D	-1.32	0.00691	N	1.6	0.65931	T	0.23	0.04613	N	0.072	0.06059	-1.0829	0.06795	T	0.060	0.25237	T	10	0.0116221905	0.00253	T	0.004	0.09493	T	0.032	0.07718	.	.	0.0934897674506	0.08844	0.09926267678117934	0.09857	1.03285227811	0.75478	0.452510535717	0.32287	T	0.026902	0.19814	T	-0.474108	0.00802	T	-0.526604	0.19628	T	0.0207430000855697	0.00774	T	0.835216	0.50504	T	0.019868894	0.00528	0.024162482	0.00432	0.019868894	0.00527	0.024162482	0.00432	-2.526	0.09253	T	.	.	0.056	0.03887	B	.;.;.;.;.;.	.;.;.;.;.;.	1.410379	0.18257	13.64	0.92678203058504605	0.22163	0.68567	0.33851	D	AEFDGBI	0.091362	0.18507	N	-0.74526079491701	0.14762	0.7381456	-0.525363286589432	0.21465	1.161342	0.938790932921965	0.27359	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	1.96	0.25203	1.406000	0.34254	0.823000	0.21872	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.3307:0.0:0.6693	7.699	0.27777	890	0.26919	WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.010101	0.008152	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	1767.83	135	chr14	69122295	.	T	C	1767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.494;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.253;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,76:135:99:1778,0,1339	5	0	1	0
chr14	73262641	73262641	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon18:c.C2489T:p.A830V,PAPLN:NM_173462:exon18:c.C2456T:p.A819V,PAPLN:NM_001365906:exon19:c.C2537T:p.A846V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	0.0071	0.000998403	0.0114	0.0044	0.0119	0	0.0184	0.0169	0.0104	0	0.0035058	542	154602	rs11620852	0.0074	0.0072	0.0075	0.0072	0.0085	0.0072	0.0072	0.0084	0.0083	0.0013	0.0052	0.0040	8.157e-05	0.0057	0.0008	0.0085	0.0074	4.183e-05	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0052	0.0084	0.0081	0.0021	0	0.0067	0.0023	0	0.0048	0	0.0090	0.0038	0	0.37	0.11659	T	0.428	0.13792	T	0.0	0.02946	B	0.0	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-0.01	0.62762	T	-0.69	0.19720	N	0.05	0.02861	-1.0439	0.16148	T	0.080	0.31645	T	9	0.0038379133	0.00072	T	.	.	.	0.067	0.19503	.	.	0.0297737177859	0.01360	0.1336803477946363	0.13292	0.185637275196	0.20877	0.270836800337	0.06250	T	0.005715	0.05159	T	-0.493135	0.00625	T	-0.471736	0.25330	T	0.00165313840797321	0.00017	T	0.319968	0.06445	T	0.013320798	0.00056	0.024709178	0.00495	0.013320798	0.00055	0.024709178	0.00495	-4.391	0.29489	T	.	.	0.082	0.10352	B	.;.;.;.	.;.;.;.	-0.367988	0.02335	0.251	0.78116216352754131	0.12162	0.03137	0.08091	N	AEFDBI	0.068154	0.13430	N	-1.45939330310738	0.02144	0.09434819	-1.44714005152769	0.02796	0.1292668	0.964288975979899	0.28749	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.73	0.574	0.16553	-0.673000	0.05339	-1.112000	0.06295	-2.752000	0.00197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6861:0.1369:0.177	7.636	0.27431	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	0	0	0	1	0	0	0	0.002559	0.015464	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	671.83	41	chr14	73262641	.	C	T	671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=1.2;SOR=0.743	GT:AD:DP:GQ:PL	0/1:19,22:41:99:682,0,507	5	0	1	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC 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	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.1667	2586.06	99	chr14	73491733	.	A	G	2586.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.713;DP=510;ExcessHet=0.4139;FS=1.199;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.181;SOR=0.834	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1210,0,1304	4	0	2	0
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	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	2192.09	39	chr14	73612782	.	A	G	2192.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=117;ExcessHet=1.383;FS=4.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.197;SOR=0.367	GT:AD:DP:GQ:PL	0/1:19,20:39:99:549,0,472	5	0	1	0
chr14	77435849	77435849	T	C	exonic	VIPAS39	.	nonsynonymous SNV	VIPAS39:NM_001193316:exon12:c.A760G:p.I254V,VIPAS39:NM_001193314:exon13:c.A907G:p.I303V,VIPAS39:NM_001193315:exon13:c.A907G:p.I303V,VIPAS39:NM_001193317:exon13:c.A907G:p.I303V,VIPAS39:NM_022067:exon14:c.A907G:p.I303V	Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	1919413	Inborn_genetic_diseases|Arthrogryposis,_renal_dysfunction,_and_cholestasis_2|VIPAS39-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013255,MedGen:C3150672,OMIM:613404,Orphanet:2697|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0108999416905	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760795319	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0040	1.61e-05	1.416e-05	0.0027	0.0023	2.988e-05	0	0	0	0	0.0040	6.295e-06	1.656e-05	1.159e-05	6.569e-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	0.2	0.26740	T	0.041	0.50809	D	0.118	0.26577	B	0.136	0.33270	B	0.000007	0.62929	D	0.142631	0.999995	0.58761	D	1.52	0.38360	L	0.91	0.44856	T	-0.46	0.14978	N	0.422	0.46180	-1.0099	0.26949	T	0.108	0.39147	T	10	0.31477988	0.48916	T	0.011	0.27957	T	0.087	0.25287	0.617	0.75116	0.42886291518	0.42503	0.3750092851199869	0.37414	0.244761738464	0.26983	0.508945941925	0.40075	T	0.045604	0.27172	T	-0.174258	0.24593	T	-0.488086	0.23592	T	0.752516686916351	0.43425	D	0.868613	0.57103	D	0.041953344	0.06274	0.050929755	0.08092	0.041953344	0.06274	0.050929755	0.08092	-3.751	0.20074	T	0.2808078224063271	0.37608	0.096	0.15206	B	.;.;.;.;.;.	.;.;.;.;.;.	3.101100	0.41791	21.4	0.99489358191664512	0.67347	0.94229	0.60507	D	AEGBI	0.447418	0.50307	N	0.0536439635034095	0.44309	2.707413	0.203852987973281	0.50061	3.202149	0.989649435504163	0.31891	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.811000	0.62296	7.801000	0.69150	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0804:0.0:0.9196	9.518	0.38280	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	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	877.83	88	chr14	77435849	.	T	C	877.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.399;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.702;SOR=0.735	GT:AD:DP:GQ:PL	0/1:51,37:88:99:888,0,1302	5	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	321.03	129	chr14	78297852	.	G	A	321.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.202;DP=747;ExcessHet=1.383;FS=240.602;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.123;SOR=10.76	GT:AD:DP:GQ:PL	0/1:82,47:129:99:191,0,1265	3	0	3	0
chr14	91621823	91621823	G	C	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon19:c.C2045G:p.T682S	.	433	1085	2	2	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0579769036512	.	.	8.242e-06	0	8.649e-05	0	0	0	0	0	6.5e-06	1	154602	rs772377586	2.257e-05	2.257e-05	2.45e-05	2.063e-05	0.0049	1.61e-05	1.416e-05	0.0034	0.0030	8.961e-05	2.236e-05	0	0	0	0.0049	8.993e-07	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-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	0.172	0.22660	T	0.0	0.92824	D	0.998	0.73220	D	0.983	0.75793	D	0.000038	0.55875	D	0.000000	1	0.08975	N	2.75	0.80375	M	0.72	0.50976	T	-2.56	0.55339	D	0.266	0.30118	-0.8402	0.52633	T	0.229	0.59396	T	10	0.33028704	0.50268	T	0.057977	0.67155	D	0.162	0.41843	0.321	0.30064	0.707077320254	0.70452	0.6007478139928748	0.60005	0.713409485707	0.61815	0.434314161539	0.29799	T	0.169262	0.51657	T	-0.219125	0.18111	T	-0.469669	0.25553	T	0.960161805152893	0.65730	D	.	.	.	0.14254807	0.32801	0.14044055	0.33477	0.14254807	0.32800	0.14044055	0.33476	-3.113	0.11446	T	.	.	0.548	0.66717	A	.	.	4.176564	0.62841	24.5	0.98707762597151072	0.45011	0.77554	0.38145	D	AEFDI	0.268190	0.38474	N	0.356565788892037	0.59086	4.085362	0.264922114440387	0.53501	3.518866	0.0383313780989239	0.14342	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	4.030000	0.56971	11.619000	0.93604	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.176000	0.21171	0.0901:0.0:0.9099:0.0	10.288	0.42758	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.002717	0.017544	0.000000	0.008621	0.000000	0.000000	0.08333	1771.83	107	chr14	91621823	.	G	C	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=298;ExcessHet=0;FS=5.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.088;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,47:107:99:0|1:91621823_G_C:1782,0,2351:91621823	5	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	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	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.1667	3385.06	128	chr14	94290332	.	G	A	3385.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.11;DP=442;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.706;SOR=0.679	GT:AD:DP:GQ:PL	0/1:56,72:128:99:1903,0,1377	4	0	2	0
chr14	96290844	96290844	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon39:c.G5671A:p.V1891I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0132799966542	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs751604425	8.894e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	8.895e-05	7.061e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.0	0.92824	D	0.995	0.67487	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.75	0.45442	L	2.6	0.13204	T	-0.88	0.23808	N	0.719	0.72120	-1.1483	0.01077	T	0.087	0.33606	T	10	0.6598228	0.70088	D	0.01328	0.32560	T	0.225	0.52323	0.338	0.32816	0.626192467405	0.62315	0.5956666465517757	0.59496	0.528953778079	0.50459	0.608346581459	0.54082	T	0.019438	0.15489	T	-0.233201	0.16228	T	-0.313074	0.43327	T	0.591672539710999	0.36072	D	0.849215	0.53152	T	0.185112	0.39859	0.12711845	0.30605	0.185112	0.39859	0.12711845	0.30604	-6.994	0.53990	T	.	.	0.115	0.22861	B	.	.	4.369942	0.67273	25.1	0.99845038608533088	0.92489	0.98404	0.82430	D	AEFGBI	0.755017	0.69471	D	0.656324626096277	0.76781	6.549782	0.631637403694383	0.77249	6.643206	0.999999999998921	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	7.568000	0.81546	5.927000	0.51257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	19.049	0.93018	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	.	.	.	.	.	.	.	.	0.08333	532.83	33	chr14	96290844	.	C	T	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=206;ExcessHet=0;FS=5.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.219;SOR=0.223	GT:AD:DP:GQ:PL	0/1:14,19:33:99:543,0,339	5	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	59.92	26	chr14	96328709	.	G	C	59.92	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.153;DP=147;ExcessHet=0;FS=35.4;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=2.23;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,7:26:69:0|1:96328709_G_C:69,0,494:96328709	4	0	1	1
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	86.08	26	chr14	96328715	.	G	C	86.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.468;DP=143;ExcessHet=0.4139;FS=59.017;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.33;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,7:26:69:0|1:96328709_G_C:69,0,494:96328709	4	0	2	0
chr14	105529766	105529766	C	T	exonic	TMEM121	.	nonsynonymous SNV	TMEM121:NM_001331238:exon2:c.C932T:p.S311L,TMEM121:NM_025268:exon2:c.C932T:p.S311L	.	287	1233	2	0	0	2	0.000810373	.	.	.	2334516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.596439262707	.	0.000399361	0.0006	0	0	0	0	0.0030	0	0	0.0002329	36	154602	rs587624495	0.0014	0.0013	0.0014	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0003	0.0007	0.0012	0	0.0003	0.0008	0.0017	0.0011	7.08e-05	0.0011	0.0011	0.0012	0.0009	0.0017	0.0009	0.0009	0.0014	0.0013	0.0003	0.0088	0.0005	0.0017	0	0.0004	0	0.0017	0.0019	0.0002	0.004	0.65419	D	0.0	0.92824	D	0.953	0.54283	P	0.344	0.42549	B	0.003901	0.34365	U	0.201017	0.999964	0.52935	D	0.695	0.17993	N	.	.	.	-0.84	0.22944	N	0.413	0.45331	-1.0004	0.29803	T	0.075	0.30272	T	9	0.012311816	0.00265	T	0.596439	0.96432	D	0.034	0.08419	.	.	0.0611884634855	0.05136	0.39318523283500456	0.39233	2.03392677507	0.94150	0.880160331726	0.93983	D	0.070076	0.33869	T	-0.371183	0.03534	T	-0.346488	0.39606	T	0.0315193894942347	0.02229	T	0.665633	0.27494	T	0.12435349	0.29178	0.12196765	0.29425	0.12435349	0.29178	0.12196765	0.29424	-3.227	0.12813	T	.	.	0.115	0.24967	B	.;.	.;.	3.853231	0.55833	23.7	0.99838262192957161	0.91886	0.68837	0.33954	D	AEFDBHCJ	0.390687	0.46942	N	0.105875662381968	0.46736	2.909	0.147963346804954	0.47035	2.939825	0.999999998213333	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.33	3.36	0.37579	2.495000	0.44997	3.677000	0.39455	0.597000	0.34315	0.852000	0.30477	1.000000	0.68203	0.674000	0.33367	0.0:0.8278:0.1722:0.0	12.292	0.54142	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	.	.	.	.	.	.	.	.	0.08333	1064.83	67	chr14	105529766	.	C	T	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.221;DP=252;ExcessHet=0;FS=3.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.94;SOR=0.373	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1075,0,679	5	0	1	0
chr15	20534631	20534756	CTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1678_1803del:p.V560_K601del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.234e-05	0.0001	9.245e-05	7.173e-05	0.0002	6.734e-05	6.238e-05	0.0001	6.876e-05	0.0002	0.0002	8.45e-05	3.304e-05	0	0	7.716e-05	0.0001	7.691e-05	0.0006	0.0008	0.0007	0.0005	0.0014	0.0005	0.0005	0.0006	0.0005	0.0004	0.0029	0.0009	0	0.0014	0.0007	0	0.0006	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	46.84	73	chr15	20534630	.	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	T	46.84	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.56;DP=245;ExcessHet=0.5115;FS=1.601;MLEAC=1;MLEAF=0.1;MQ=52.62;MQRankSum=4.67;QD=0.41;ReadPosRankSum=-5.489;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,33:73:56:.:.:56,0,1550:.	4	0	1	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	91.41	73	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	91.41	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.077;DP=243;ExcessHet=0.5115;FS=2.651;MLEAC=1;MLEAF=0.1;MQ=54.54;MQRankSum=0.7;QD=0.89;ReadPosRankSum=-1.936;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,33:73:56:.:.:56,0,1550:.	4	0	1	1
chr15	20534664	20534675	CTCCCTTATCTT	0	exonic	GOLGA6L6	.	.	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	241.23	73	chr15	20534664	.	CTCCCTTATCTT	*	241.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.821;DP=212;ExcessHet=1.383;FS=2.345;MLEAC=2;MLEAF=0.167;MQ=55.17;MQRankSum=0.179;QD=2.04;ReadPosRankSum=-3.735;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,33:73:56:.:.:56,0,1550:.	4	0	2	0
chr15	20534680	20534680	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	175.27	73	chr15	20534680	.	T	*	175.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.968;DP=194;ExcessHet=1.383;FS=2.387;MLEAC=2;MLEAF=0.167;MQ=55.12;MQRankSum=0.674;QD=1.51;ReadPosRankSum=-2.588;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,33:73:56:.:.:56,0,1550:.	4	0	2	0
chr15	20535459	20535459	-	ATCTTCTCCTCCTGCTCCCGT	exonic	GOLGA6L6	.	nonframeshift insertion	GOLGA6L6:NM_001145004:exon8:c.974_975insACGGGAGCAGGAGGAGAAGAT:p.K324_M325insIREQEEK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.981e-05	0.0002	2.889e-05	6.792e-05	0.0004	3.463e-05	2.942e-05	0.0001	7.75e-05	0	6.928e-05	0.0002	6.219e-05	0	0.0004	2.601e-05	0	0.0002	6.969e-06	6.625e-06	0	1.432e-05	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	111.79	19	chr15	20535459	.	C	CATCTTCTCCTCCTGCTCCCGT	111.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.912;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=32.37;MQRankSum=-1.28;QD=5.88;ReadPosRankSum=-1.356;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,7:19:99:0|1:20535459_C_CATCTTCTCCTCCTGCTCCCGT:122,0,424:20535459	5	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:0,69:114:99:4240,1483,1771	1	0	5	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1667	2284.06	101	chr15	28257189	.	T	C	2284.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.613;DP=330;ExcessHet=0.4139;FS=1.157;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.84;SOR=0.813	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1368,0,1209	4	0	2	0
chr15	28354856	28354856	T	A	exonic	LOC100132202;LOC645202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon5:c.A336T:p.Q112H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	.	0.0007	0.0024	0.0004	0	0	0.0007	0	0.0004	0.008683	226	26028	rs78441157	0.0001	0.0007	6.58e-05	0.0001	0.0011	8.707e-05	8.192e-05	0.0008	0.0007	2.993e-05	8.993e-05	0.0002	0	0.0002	0.0011	2.885e-05	0.0001	0.0009	0.0005	0.0037	0.0004	0.0005	0.0011	0.0004	0.0003	0.0007	0.0006	0.0003	0	0.0011	0.0018	0	9.546e-05	0	0.0004	0.0010	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	.	.	.	.	.	.	.	.	0.1667	233.03	8	chr15	28354856	.	T	A	233.03	.	AC=2;AF=0.167;AN=12;DP=378;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=29;QD=29.13;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:253,24,0	5	1	0	0
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	48.03	11	chr15	28842754	.	C	T	48.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.875;DP=27;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.083;MQ=46.77;MQRankSum=1.34;QD=4.37;ReadPosRankSum=-1.231;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:28842730_C_T:57,0,357:28842730	5	0	1	0
chr15	30522472	30522472	G	A	exonic	LOC100996413	.	nonsynonymous SNV	LOC100996413:NM_001365376:exon2:c.C571T:p.R191W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs560631256	0.0001	0.0001	0.0001	9.179e-05	0.0006	8.515e-05	7.844e-05	8.385e-05	7.754e-05	0	0	0	0	0	0.0006	0.0001	0.0002	6.133e-05	0.0001	0.0002	8.259e-05	0.0002	0.0006	8.085e-05	6.7e-05	0.0002	8.462e-05	0.0002	0	6.729e-05	0	0.0006	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	157.39	5	chr15	30522472	.	G	A	157.39	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=55.62;QD=31.48;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:169,15,0	2	1	0	3
chr15	33066882	33066882	G	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.C1003G:p.P335A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0334072298338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.008	0.58626	D	0.277	0.21880	T	0.037	0.51395	B	0.074	0.46205	B	.	.	.	.	.	.	.	.	.	.	1.08	0.45636	T	-2.69	0.64363	D	0.159	0.17691	-0.7160	0.59658	T	0.120	0.41971	T	7	0.13278058	0.25272	T	0.033407	0.54959	D	0.089	0.25827	0.216	0.13643	0.580833741332	0.57755	.	.	0.0220140850066	0.02206	.	.	.	.	.	.	-0.234522	0.16055	T	-0.574651	0.15025	T	0.354736643431938	0.27203	T	.	.	.	.	.	.	.	.	.	.	.	-3.522	0.20357	T	.	.	0.066	0.02829	B	.;.	.;.	0.791965	0.11622	8.211	0.93620273157758704	0.23489	0.70557	0.34640	D	AEFDBCI	0.128132	0.24577	N	-0.103445059639229	0.37242	2.163944	-0.112176740927218	0.34898	2.012707	0.999999989464196	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.68	4.76	0.60189	4.594000	0.60750	1.040000	0.23550	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.183000	0.21389	0.0:0.1352:0.7242:0.1406	11.562	0.50033	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1892.83	158	chr15	33066882	.	G	C	1892.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=595;ExcessHet=0;FS=2.815;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.263;SOR=0.941	GT:AD:DP:GQ:PL	0/1:88,70:158:99:1903,0,2378	5	0	1	0
chr15	41856598	41856598	T	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon53:c.A8809T:p.N2937Y	.	422	1074	26	0	0	26	0.0119595	0.2225	0.45	.	797119	not_provided|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.155	.	0.0045	0.00159744	0.0065	0.0006	0.0032	0	0.0018	0.0097	0.0054	0.0030	0.0042302	654	154602	rs200163654	0.0063	0.0063	0.0064	0.0062	0.0080	0.0062	0.0061	0.0073	0.0073	0.0008	0.0028	0.0025	2.589e-05	0.0016	0.0080	0.0074	0.0048	0.0023	0.0047	0.0047	0.0051	0.0043	0.0084	0.0044	0.0043	0.0078	0.0076	0.0011	0	0.0035	0.0032	0	0.0010	0.0102	0.0084	0.0047	0.0017	0.023	0.48186	D	0.003	0.76473	D	0.989	0.62824	D	0.832	0.59730	P	0.016693	0.27912	N	0.333168	0.959119	0.38110	D	2.655	0.77738	M	0.75	0.50192	T	-4.54	0.78472	D	0.62	0.63544	-0.6326	0.63460	T	0.191	0.54330	T	10	0.010663599	0.00236	T	0.279638	0.90184	D	0.155	0.40530	.	.	0.832998634691	0.83140	0.144041453788278	0.14327	.	.	0.479254662991	0.35954	T	0.107492	0.41975	T	-0.429509	0.01492	T	-0.383763	0.35282	T	0.020169583744429	0.00717	T	0.455954	0.13062	T	0.27375516	0.50442	0.32191783	0.58136	0.27375516	0.50442	0.32191783	0.58136	-7.645	0.58624	D	.	.	0.161	0.35560	B	.	.	4.076076	0.60593	24.2	0.99373321489491717	0.61541	0.99036	0.90290	D	AEFBI	0.544902	0.55963	D	0.507940657412181	0.67557	5.097722	0.455150328200635	0.65048	4.774721	0.999999494109063	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	3.889000	0.55925	3.063000	0.36168	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:0.0:1.0	14.742	0.69084	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.005102	0.017711	0.005917	0.000000	0.008772	0.000000	0.007634	0.08333	1260.83	56	chr15	41856598	.	T	A	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.83;DP=355;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.199;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,32:56:99:0|1:41856598_T_A:1271,0,911:41856598	5	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	156.08	103	chr15	43021291	.	A	G	156.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.213;DP=444;ExcessHet=0.4139;FS=114.415;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=0.463;SOR=9	GT:AD:DP:GQ:PL	0/1:75,28:103:99:122,0,1340	4	0	2	0
chr15	43527561	43527561	A	G	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.A6088G:p.T2030A	.	.	.	.	.	.	.	.	.	.	.	2786602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00204354093508	8.1e-05	.	8.318e-06	0	0	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs376325123	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0010	8.31e-06	6.7e-06	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	8.993e-06	3.312e-05	0	6.583e-06	6.569e-06	0	1.348e-05	6.56e-05	0	0	.	.	0	0	6.56e-05	0	0	0	0	0	0	0	0.294	0.14793	T	0.347	0.17640	T	0.02	0.18235	B	0.008	0.13708	B	0.003503	0.34847	N	0.000000	0.931351	0.27048	N	1.5	0.37844	L	4.87	0.01449	T	0.01	0.06868	N	0.137	0.13484	-0.9684	0.37530	T	0.005	0.01833	T	10	0.054602593	0.05839	T	0.002044	0.03721	T	0.044	0.11924	.	.	0.2338531098	0.23012	0.40229324354765755	0.40145	0.189362932631	0.21250	0.359354734421	0.19291	T	0.043892	0.26645	T	-0.25393	0.13620	T	-0.60253	0.12600	T	0.0625228359148992	0.07561	T	0.49745	0.15470	T	0.049760517	0.08885	0.05296974	0.08833	0.049760517	0.08885	0.05296974	0.08832	-3.235	0.12914	T	.	.	0.089	0.11989	B	.;.	.;.	1.832994	0.23289	15.96	0.87198033083123494	0.17057	0.62884	0.31918	D	AEFDBI	0.077271	0.15565	N	-0.382129601079528	0.26106	1.422226	-0.253253251592708	0.29660	1.66348	0.99999362438039	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.9	3.78	0.42629	1.274000	0.32736	4.566000	0.43861	0.756000	0.94297	0.965000	0.33920	1.000000	0.68203	0.994000	0.71098	0.8985:0.0:0.1015:0.0	6.990	0.23929	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1385.83	116	chr15	43527561	.	A	G	1385.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.303;DP=328;ExcessHet=0;FS=1.509;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.025;SOR=0.517	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1396,0,1535	5	0	1	0
chr15	50632919	50632919	C	T	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon9:c.G1081A:p.A361T,TRPM7:NM_017672:exon9:c.G1081A:p.A361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.014782368737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450943095	1.381e-06	2.052e-06	0	2.775e-06	1.188e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.034e-07	0	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.981	0.59675	D	0.704	0.54300	P	0.000001	0.62929	D	0.056150	1	0.81001	D	1.575	0.39704	L	1.71	0.26737	T	-1.86	0.43524	N	0.692	0.73826	-0.9796	0.35094	T	0.124	0.42736	T	10	0.53174496	0.63223	D	0.014782	0.35118	T	0.220	0.51569	0.467	0.53891	0.445614145163	0.44183	0.6056999606120872	0.60500	0.385891351295	0.39878	0.661958098412	0.61689	T	0.554541	0.84977	D	0.0387526	0.56881	T	-0.182111	0.56327	T	0.876106917858124	0.52598	D	0.89801	0.64352	D	0.26852235	0.49924	0.24354072	0.49799	0.26852235	0.49924	0.24354072	0.49798	-6.81	0.52633	T	.	.	0.504	0.64750	A	.;.;.	.;.;.	4.799410	0.77971	26.8	0.99837411731673387	0.91800	0.98521	0.83668	D	AEFBI	0.730147	0.67763	D	0.680384661679726	0.78347	6.853252	0.687355424195683	0.81417	7.522028	0.999999999999993	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.29	5.29	0.74430	3.949000	0.56377	4.879000	0.45646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.126	0.93369	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	72.7	70	chr15	50632919	.	C	T	72.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.234;DP=241;ExcessHet=0;FS=142.191;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.85;SOR=7.111	GT:AD:DP:GQ:PL	0/1:43,18:70:82:82,0,772	4	0	1	1
chr15	57439095	57439095	C	T	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon2:c.C1096T:p.L366F,CGNL1:NM_001252335:exon3:c.C1096T:p.L366F	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00487336658646	0.0015	0.000599042	0.0025	0.0004	0.0022	0	0.0003	0.0036	0.0011	0.0017	0.0023544	364	154602	rs144676801	0.0021	0.0021	0.0021	0.0022	0.0064	0.0021	0.0020	0.0048	0.0042	0.0003	0.0023	0.0025	0	0.0005	0.0064	0.0023	0.0019	0.0017	0.0018	0.0018	0.0018	0.0019	0.0030	0.0017	0.0016	0.0024	0.0023	0.0005	0	0.0030	0.0023	0	0.0008	0.0034	0.0027	0.0024	0.0012	0.74	0.03696	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.780602	0.09474	N	0.879962	1	0.08975	N	1.95	0.52479	M	0.96	0.42888	T	-0.91	0.24460	N	0.25	0.28264	-0.9984	0.30367	T	0.050	0.21104	T	10	0.0061624944	0.00139	T	0.004873	0.12224	T	0.124	0.34239	.	.	0.124217242631	0.12060	0.07299204615345675	0.07236	0.0186665029899	0.01818	0.303619533777	0.10943	T	0.005822	0.05268	T	-0.592545	0.00162	T	-0.6202	0.11170	T	0.00207451897908475	0.00021	T	0.544846	0.18617	T	0.05186482	0.09589	0.042902105	0.05217	0.05186482	0.09588	0.042902105	0.05217	-5.178	0.38718	T	.	.	0.077	0.06433	B	.	.	1.445934	0.18663	13.86	0.70581129268266674	0.09342	0.09425	0.15183	N	AEFGBI	0.125224	0.24164	N	-0.772905407941522	0.14020	0.6950107	-0.670913409563666	0.17690	0.9417339	0.960372022471038	0.28485	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.7	2.4	0.28568	0.764000	0.26197	0.315000	0.17124	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.868000	0.41282	0.2539:0.3964:0.2403:0.1094	2.733	0.04910	478	0.77585	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.012195	0.007576	0.08333	2162.83	129	chr15	57439095	.	C	T	2162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.844;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-0.137;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,82:129:99:2173,0,1357	5	0	1	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	1907.83	155	chr15	58772221	.	C	T	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.399;DP=332;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.746;SOR=0.566	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1918,0,2054	5	0	1	0
chr15	58787930	58787930	A	G	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon2:c.A865G:p.I289V,MINDY2:NM_001040453:exon2:c.A865G:p.I289V	.	.	.	.	.	.	.	.	.	.	.	2789097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.00791395630175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.09572	T	0.902	0.03047	T	0.083	0.24734	B	0.089	0.29769	B	0.000000	0.84330	D	0.047442	0.975554	0.39199	D	.	.	.	1.02	0.41058	T	-0.13	0.08971	N	0.483	0.51761	-1.0094	0.27105	T	0.035	0.15030	T	10	0.15932524	0.29939	T	0.007914	0.20981	T	0.177	0.44549	0.359	0.36222	0.243398259712	0.23965	0.25412982995278766	0.25326	0.224310002759	0.24958	0.733025848866	0.71948	T	0.008698	0.07968	T	-0.155761	0.27415	T	-0.461516	0.26434	T	0.851219654083252	0.50271	D	0.90081	0.65538	D	0.08959567	0.20938	0.07480433	0.16403	0.08959567	0.20938	0.07480433	0.16402	-6.17	0.47679	T	.	.	0.462	0.62796	A	.;.	.;.	3.027608	0.40545	21.2	0.94045074246421256	0.24169	0.94974	0.62981	D	AEFBI	0.595599	0.59009	D	-0.381094780452887	0.26144	1.424538	-0.0925550006951347	0.35698	2.068307	0.914737894640441	0.26462	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	5.17	0.70848	5.436000	0.66287	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.826	0.57102	921	0.19240	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	76.83	18	chr15	58787930	.	A	G	76.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.27;ReadPosRankSum=1.68;SOR=0.934	GT:AD:DP:GQ:PL	0/1:13,5:18:87:87,0,318	5	0	1	0
chr15	59207760	59207760	G	A	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.G820A:p.E274K	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00688886488605	0.0002	.	0.0001	9.643e-05	8.639e-05	0	0	8.991e-05	0.0011	0.0003	0.0001035	16	154602	rs139039522	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.767e-05	0.0008	0.0006	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0016	0.0001	0.0002	0.0002	8.536e-05	8.53e-05	0.0001	5.372e-05	0.0002	4.954e-05	3.96e-05	3.762e-05	2.575e-05	7.219e-05	0	0	0.0003	0	0	0.0034	8.82e-05	0.0005	0.0002	0.013	0.53900	D	0.047	0.48855	D	0.715	0.42183	P	0.328	0.42011	B	0.000207	0.47681	U	0.082682	0.721462	0.41861	D	2.595	0.75868	M	-0.17	0.65563	T	-3.61	0.69477	D	0.265	0.30004	-0.6550	0.62495	T	0.243	0.61189	T	10	0.21238846	0.37697	T	0.006889	0.18233	T	0.206	0.49396	.	.	0.761536124161	0.75936	0.1852540010845516	0.18443	0.153955886839	0.17378	0.299728572369	0.10360	T	0.329145	0.69947	T	-0.246516	0.14529	T	-0.291556	0.45609	T	0.683473885059357	0.39947	D	0.911709	0.68653	D	0.49668545	0.66900	0.3802823	0.63064	0.49668545	0.66901	0.3802823	0.63063	-9.699	0.72090	D	.	.	0.156	0.34602	B	.	.	3.331073	0.45857	22.2	0.99803039434087959	0.88728	0.55191	0.29802	D	AEFDGBI	0.074420	0.14916	N	-0.0752485925443455	0.38481	2.254408	-0.240721266800653	0.30092	1.691394	0.994592287310703	0.33711	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	1.47	1.47	0.21832	2.886000	0.48276	5.663000	0.49226	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.245:0.0:0.755:0.0	3.857	0.08489	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1198.83	74	chr15	59207760	.	G	A	1198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=263;ExcessHet=0;FS=4.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.164;SOR=1.306	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1209,0,931	5	0	1	0
chr15	62164890	62164890	T	A	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.A95T:p.E32V	.	417	1104	1	0	0	1	0.000452694	.	.	.	2364836	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.510673150499	.	.	0.0004	0	0	0	0	0.0011	0	0	4.53e-05	7	154602	rs773060562	1.091e-05	1.436e-05	8.617e-06	1.326e-05	0.0027	6.55e-06	5.19e-06	0.0016	0.0012	0	0	0	0	0	0.0027	0	5.25e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.98	0.59353	D	0.898	0.63708	P	0.000118	0.50451	U	0.131102	0.999463	0.47157	D	2.455	0.71248	M	-3.01	0.92208	D	-5.72	0.87531	D	0.321	0.36148	0.758	0.93896	D	0.821	0.93983	D	10	0.4246547	0.57093	T	0.510673	0.95296	D	0.661	0.87332	0.324	0.30549	0.955261737429	0.95479	0.26389553150037376	0.26302	2.08176540196	0.94631	0.702376008034	0.67488	T	0.138889	0.47263	T	-0.00347201	0.51175	T	-0.0504281	0.66994	D	0.743445694446564	0.42924	D	0.805019	0.45286	T	0.70088255	0.78105	0.5861439	0.75998	0.70088255	0.78106	0.5861439	0.75999	-3.3	0.13737	T	.	.	0.436	0.61485	A	.	.	4.602163	0.72904	25.9	0.99068138890681712	0.51645	0.89502	0.50008	D	AEFDBCIJ	0.697107	0.65523	D	0.475785093926305	0.65679	4.852966	0.374074564887028	0.59972	4.179774	0.999972486401685	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.56214	0.19341	0	.	.	4.05	2.82	0.32061	3.762000	0.54962	3.779000	0.39783	0.576000	0.29215	0.848000	0.30412	0.999000	0.35428	0.872000	0.41544	0.0:0.0:0.1643:0.8356	10.292	0.42784	277	0.89083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1477.83	112	chr15	62164890	.	T	A	1477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=310;ExcessHet=0;FS=2.451;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.29;SOR=1.011	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1488,0,1342	5	0	1	0
chr15	63277702	63277702	A	G	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon1:c.A79G:p.T27A,APH1B:NM_031301:exon1:c.A79G:p.T27A	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0032	.	0.0075	0.0088	0.0010	0.0008	0	0.0002	0.0045	0.0469	0.0060543	936	154602	rs77834210	0.0033	0.0033	0.0019	0.0047	0.0477	0.0032	0.0032	0.0465	0.0460	0.0105	0.0008	0	0.0006	0	0.0037	6.932e-05	0.0031	0.0477	0.0039	0.0039	0.0033	0.0045	0.0409	0.0036	0.0035	0.0362	0.0343	0.0089	0	0.0007	0	0.0010	0	0	0.0001	0.0010	0.0409	0.781	0.03502	T	0.765	0.04720	T	0.309	0.32767	B	0.138	0.33406	B	0.144870	0.18164	N	0.534132	1	0.08975	N	1.15	0.29295	L	1.02	0.40749	T	-0.68	0.21644	N	0.121	0.17553	-0.9548	0.40131	T	0.037	0.15986	T	10	0.004338473	0.00088	T	.	.	.	0.060	0.17295	.	.	0.318828661733	0.31499	0.5982668244239652	0.59757	0.0506069336894	0.05561	0.485664904118	0.36839	T	0.217466	0.59758	T	-0.630946	0.00094	T	-0.644049	0.09376	T	0.0137065299767312	0.00256	T	0.481052	0.23055	T	0.048443705	0.08443	0.042859226	0.05200	0.048443705	0.08442	0.042859226	0.05199	-3.178	0.12214	T	.	.	0.063	0.02200	B	.;.;.	.;.;.	1.153437	0.15417	11.83	0.64135047455837091	0.07411	0.05622	0.11530	N	ALL	0.056276	0.10389	N	-1.12320934240402	0.06232	0.2863324	-1.24691817728504	0.05177	0.2460357	0.999999995815747	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.11	-5.69	0.02233	0.513000	0.22476	2.146000	0.30877	0.550000	0.28109	0.003000	0.16062	0.781000	0.26780	0.690000	0.33838	0.2152:0.132:0.2663:0.3865	0.736	0.00904	844	0.36711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	433.83	47	chr15	63277702	.	A	G	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.42;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,20:47:99:444,0,611	5	0	1	0
chr15	71747041	71747041	C	T	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon7:c.C1160T:p.S387L,THSD4:NM_024817:exon12:c.C2240T:p.S747L	.	429	1084	9	0	0	9	0.00413413	0.9205	0.622	.	2364984	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_aneurysm,_familial_thoracic_12	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0030731,MedGen:C5676959,OMIM:619825	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.0155934252831	0.0005	0.000199681	0.0007	0	0.0008	0	0	0.0008	0.002	0.0008	0.000401	62	154602	rs146042172	0.0004	0.0004	0.0004	0.0005	0.0099	0.0004	0.0004	0.0079	0.0071	0.0004	0.0007	0.0025	0	0	0.0099	0.0003	0.0010	0.0006	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0010	0.0023	0	0	0.0102	0.0005	0.0009	0.0004	0.053	0.38863	T	0.253	0.23501	T	0.589	0.39027	P	0.141	0.33616	B	.	.	.	.	0.990364	0.41143	D	1.1	0.28011	L	0.56	0.54540	T	-2.32	0.52612	N	0.643	0.69125	-1.0072	0.27789	T	0.100	0.37162	T	9	0.08216873	0.13532	T	0.015593	0.36407	T	0.118	0.32913	.	.	0.499281839539	0.49564	0.14918880482100783	0.14840	0.171652307546	0.19330	0.690563082695	0.65787	T	0.174235	0.52339	T	-0.291314	0.09505	T	-0.283964	0.46397	T	0.0309157445667508	0.02132	T	0.928607	0.73726	D	0.14138943	0.32581	0.20580995	0.44767	0.14138943	0.32581	0.20580995	0.44766	-8.291	0.63035	D	.	.	0.118	0.24192	B	.;.	.;.	5.011936	0.83234	28.0	0.9980204979446694	0.88639	0.78548	0.38769	D	AEFGBHCI	0.783381	0.71438	D	0.0866694203251143	0.45840	2.833997	0.238434459319856	0.51996	3.377414	0.999999999998211	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	5.879000	0.69436	7.514000	0.59661	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:1.0:0.0:0.0	15.679	0.77111	945	0.12563	.;.	.	.	.	.	.	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	0.009119	0.000000	0.008152	0.029586	0.000000	0.000000	0.003067	0.003788	0.08333	533.83	51	chr15	71747041	.	C	T	533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.93;DP=225;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.74;SOR=1.473	GT:AD:DP:GQ:PL	0/1:33,18:51:99:544,0,795	5	0	1	0
chr15	71811534	71811534	A	G	exonic	NR2E3	.	nonsynonymous SNV	NR2E3:NM_014249:exon2:c.A170G:p.K57R,NR2E3:NM_016346:exon2:c.A170G:p.K57R	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	547750	not_provided|Goldmann-Favre_syndrome|Retinal_dystrophy|Inborn_genetic_diseases|Enhanced_S-cone_syndrome|Retinitis_pigmentosa_37	MedGen:C3661900|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|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|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	.	.	0.000199681	0.0002	0	0.0008	0	0	0.0004	0	0	0.0001811	28	154602	rs563014885	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	3.04e-05	0.0001	0	0	0	0.0009	0.0002	0.0003	4.883e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.141e-05	7.697e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0.0102	0.0002	0	0	.	.	.	0.034	0.52727	D	0.952	0.54136	P	0.889	0.63100	P	0.000709	0.42254	N	0.229305	.	.	.	1.155	0.29575	L	.	.	.	.	.	.	0.489	0.53181	-0.6080	0.64487	T	0.198	0.55329	T	8	0.3078421	0.48284	T	.	.	.	.	.	.	.	0.629380067785	0.62635	0.5689362974805645	0.56821	.	.	0.76251155138	0.76303	T	0.795667	0.94737	D	-0.165561	0.25908	T	-0.179401	0.56579	T	0.276157708408081	0.24009	T	0.806219	0.45479	T	0.1904879	0.40636	0.3162085	0.57603	0.1904879	0.40636	0.3162085	0.57602	-12.049	0.85089	D	0.2625100279210697	0.35427	0.179	0.38994	B	.;.	.;.	4.258113	0.64686	24.7	0.7433751891992777	0.10658	0.94135	0.60218	D	AEFGBI	.	.	.	0.322452450351077	0.57304	3.897103	0.274729965208796	0.54069	3.572979	0.999827733453982	0.43622	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.062806	0.01542	0	0.710983	0.43162	3.98	2.8	0.31881	7.026000	0.76192	7.853000	0.71059	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.9072:0.0:0.0928:0.0	9.113	0.35898	933	0.16026	Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-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	.	.	.	.	.	.	.	.	0.08333	1102.83	123	chr15	71811534	.	A	G	1102.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.663;SOR=0.689	GT:AD:DP:GQ:PL	0/1:80,43:123:99:1113,0,2175	5	0	1	0
chr15	85244613	85244613	T	A	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon6:c.T623A:p.L208Q	.	526	993	3	0	0	3	0.0015083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0009	0	0	0.0004226	11	26028	rs201958698	0.0002	0.0002	0.0001	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0007	0.0003	4.228e-05	0.0001	2.982e-05	0.0011	0.0003	0.0003	3.934e-05	0.0010	0.0013	0.0012	0.0007	0.0035	0.0008	0.0008	0.0029	0.0027	0.0035	0	0.0008	0	0.0004	0.0002	0	0.0004	0.0011	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	.	.	.	.	.	.	.	.	0.08333	291.83	74	chr15	85244613	.	T	A	291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.503;DP=583;ExcessHet=0;FS=4.26;MLEAC=1;MLEAF=0.083;MQ=52.16;MQRankSum=-0.811;QD=3.94;ReadPosRankSum=-2.763;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,14:74:99:0|1:85244613_T_A:302,0,1776:85244613	5	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.41	99	chr15	88530840	.	T	C	36.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1;DP=504;ExcessHet=0.4139;FS=81.914;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.92;SOR=6.517	GT:AD:DP:GQ:PL	0/1:83,16:99:29:29,0,1969	4	0	2	0
chr15	89806400	89806400	C	A	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.G184T:p.A62S,ANPEP:NM_001150:exon2:c.G184T:p.A62S,ANPEP:NM_001381923:exon2:c.G184T:p.A62S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0173205523992	.	0.000599042	0.0009	0	0	0.0001	0	0	0.0022	0.0061	0.0006921	107	154602	rs574341939	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	0	0	0	0	0	0	2.878e-05	0.0004	0.0066	0.0002	0.0002	8.997e-05	0.0002	0.0046	0.0001	9.239e-05	0.0031	0.0026	0	0	0	0	0	0	0	2.941e-05	0	0.0046	0.64	0.08115	T	0.9	0.03047	T	0.013	0.16609	B	0.012	0.16012	B	0.003959	0.00996	N	3.514400	1	0.08975	N	1.795	0.47270	L	5.1	0.29866	T	-0.12	0.10308	N	0.091	0.06990	-0.9091	0.46965	T	0.004	0.01295	T	10	0.004625261	0.00096	T	0.017321	0.38971	T	0.043	0.11576	.	.	0.297031009988	0.29315	0.6077418469760998	0.60706	0.233634573208	0.25897	0.267298996449	0.05791	T	0.271592	0.64393	T	-0.599238	0.00147	T	-0.629955	0.10418	T	0.0152109157592097	0.00334	T	0.456254	0.13284	T	0.054827377	0.10572	0.051684014	0.08368	0.054827377	0.10572	0.051684014	0.08368	-1.489	0.01742	T	.	.	0.074	0.05145	B	.;.	.;.	0.342539	0.07159	3.744	0.57652867767554439	0.05817	0.13040	0.17628	N	AEFDBCI	0.223101	0.34750	N	-1.14901228529999	0.05795	0.2651701	-1.16016907881487	0.06587	0.3175664	0.9999553287118	0.48110	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.52	1.21	0.20240	-1.578000	0.02229	-3.758000	0.02557	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.241000	0.23027	0.1812:0.4339:0.1767:0.2083	1.158	0.01688	445	0.79730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.050000	0.000000	0.003049	0.003788	0.08333	973.83	96	chr15	89806400	.	C	A	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.944;DP=286;ExcessHet=0;FS=2.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.795;SOR=0.434	GT:AD:DP:GQ:PL	0/1:58,38:96:99:984,0,1754	5	0	1	0
chr15	101806039	101806039	T	C	exonic	OR4F6	.	nonsynonymous SNV	OR4F6:NM_001005326:exon1:c.T320C:p.V107A	.	431	1090	1	0	0	1	0.000458505	.	.	.	2338330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00118836432478	.	.	4.942e-05	0	8.637e-05	0	0	5.994e-05	0	6.057e-05	3.88e-05	6	154602	rs572327585	4.994e-05	4.994e-05	4.764e-05	5.225e-05	0.0047	4.059e-05	3.734e-05	0.0033	0.0028	8.961e-05	6.708e-05	0	0	0	0.0047	2.068e-05	0.0001	9.275e-05	3.941e-05	3.937e-05	6.427e-05	1.343e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0102	2.94e-05	0	0	0.096	0.31088	T	0.077	0.42436	T	0.003	0.11197	B	0.005	0.11217	B	0.898840	0.08635	N	0.945499	1	0.08975	N	0.475	0.13142	N	4.97	0.01356	T	-2.75	0.58407	D	0.031	0.00770	-0.9176	0.45877	T	0.005	0.01725	T	10	0.07418695	0.11309	T	0.001188	0.01533	T	0.034	0.08419	.	.	0.12205267543	0.11705	0.07930986626039545	0.07865	0.0133904734343	0.01285	0.216274634004	0.01106	T	0.023247	0.17779	T	-0.441527	0.01267	T	-0.669345	0.07650	T	0.0226853005588055	0.00986	T	0.639636	0.25265	T	0.13099061	0.30548	0.15625119	0.36590	0.13099061	0.30548	0.15625119	0.36590	-4.607	0.32260	T	.	.	0.079	0.07083	B	.	.	0.077055	0.04842	1.438	0.50739710598357146	0.04438	0.12503	0.17308	N	AEFDBI	0.055825	0.10270	N	-0.981726871558995	0.08994	0.4238826	-0.973571474905704	0.10380	0.5224781	0.0041903628752236	0.10449	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.52	0.39415	0.442000	0.21343	0.426000	0.18273	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.0:0.1019:0.0:0.8981	7.210	0.25103	840	0.37365	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	0.005035	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.08333	2292.83	151	chr15	101806039	.	T	C	2292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.48;DP=330;ExcessHet=0;FS=2.042;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.568;SOR=0.538	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2303,0,1810	5	0	1	0
chr16	1344490	1344490	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon17:c.G1516A:p.D506N,BAIAP3:NM_001199097:exon18:c.G1624A:p.D542N,BAIAP3:NM_001199098:exon18:c.G1555A:p.D519N,BAIAP3:NM_001199099:exon18:c.G1540A:p.D514N,BAIAP3:NM_001286464:exon18:c.G1675A:p.D559N,BAIAP3:NM_003933:exon18:c.G1729A:p.D577N	.	396	1110	16	0	0	16	0.00715564	.	.	.	2810774	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.117	0.115204881027	0.0027	0.000798722	0.0024	0.0004	0.0012	0.0001	0.0003	0.0037	0.0011	0.0016	0.0024321	376	154602	rs114280977	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0003	0.0022	0.0052	2.52e-05	0.0003	0.0031	0.0035	0.0030	0.0019	0.0024	0.0024	0.0027	0.0020	0.0038	0.0022	0.0021	0.0034	0.0033	0.0006	0.0077	0.0022	0.0069	0	0.0005	0.0102	0.0038	0.0024	0.0008	0.087	0.32453	T	0.097	0.39190	T	0.013	0.16609	B	0.01	0.14941	B	0.003961	0.34294	N	0.309329	0.927382	0.36863	D	1.01	0.25309	L	-0.56	0.71425	T	-1.47	0.35991	N	0.174	0.21319	-1.0774	0.07861	T	0.014	0.05753	T	10	0.0071493685	0.00162	T	0.115205	0.79431	D	0.117	0.32689	.	.	0.809614589059	0.80783	0.19950508003821626	0.19867	0.0853200097847	0.09642	0.451802194118	0.32189	T	0.030471	0.21593	T	-0.534553	0.00361	T	-0.54273	0.18029	T	0.0126203481562903	0.00211	T	0.790321	0.43084	T	0.049707748	0.08869	0.045687936	0.06204	0.049707748	0.08868	0.045687936	0.06203	-3.799	0.23293	T	.	.	0.113	0.26762	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.991757	0.25307	16.71	0.99397708993418088	0.62656	0.50134	0.28593	D	AEFGBCI	0.234568	0.35730	N	-0.709795664882353	0.15746	0.7962351	-0.714674031282023	0.16596	0.8786688	0.999982806277748	0.51787	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.17	2.18	0.26813	1.938000	0.39831	4.777000	0.44811	0.604000	0.46097	0.941000	0.32681	1.000000	0.68203	0.352000	0.25704	0.2302:0.0:0.7698:0.0	6.656	0.22179	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.014946	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1438.83	112	chr16	1344490	.	G	A	1438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=309;ExcessHet=0;FS=1.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.503;SOR=0.957	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1449,0,1632	5	0	1	0
chr16	1822354	1822354	G	A	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_001286249:exon3:c.C260T:p.A87V,HAGH:NM_001363912:exon3:c.C260T:p.A87V,HAGH:NM_005326:exon3:c.C260T:p.A87V,HAGH:NM_001040427:exon4:c.C116T:p.A39V,HAGH:NM_001363914:exon4:c.C116T:p.A39V	.	8	1503	10	1	0	12	0.00397614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0442091947007	7.7e-05	.	4.186e-05	0	8.676e-05	0	0	6.108e-05	0	0	3.23e-05	5	154602	rs201035358	8.092e-05	8.277e-05	7.508e-05	8.682e-05	0.0009	6.885e-05	6.436e-05	0.0003	0.0002	5.982e-05	0	0	2.519e-05	0	0.0009	8.828e-05	0.0002	1.16e-05	4.597e-05	4.593e-05	3.855e-05	5.373e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.351e-05	0	0	0.434	0.11994	T	0.434	0.19908	T	0.401	0.34877	B	0.04	0.23831	B	0.008987	0.30568	N	0.388603	0.999992	0.19238	N	1.115	0.28702	L	-3.81	0.95728	D	-1.78	0.44471	N	0.314	0.36569	-0.0297	0.81637	T	0.685	0.89125	D	10	0.16900414	0.31484	T	0.044209	0.61373	D	0.348	0.66956	.	.	0.752388196393	0.75015	0.5624731241048655	0.56174	0.049690005848	0.05445	0.271660506725	0.06359	T	0.319778	0.69103	T	-0.0358036	0.46570	T	-0.107059	0.62845	T	0.0645660161972046	0.07866	T	0.90141	0.66829	D	0.050169047	0.09022	0.037674222	0.03472	0.050169047	0.09021	0.037674222	0.03471	-4.915	0.40804	T	.	.	0.087	0.25166	B	.;.;.;.;.	.;.;.;.;.	1.834673	0.23309	15.97	0.68844754587885548	0.08784	0.34535	0.25090	N	AEFDGBI	0.268892	0.38529	N	-0.818153203543458	0.12846	0.6288887	-0.884942443210969	0.12450	0.6404949	0.922577485468689	0.26713	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	0.756	0.17569	2.731000	0.47015	1.400000	0.26189	-0.128000	0.13240	0.131000	0.23362	0.001000	0.17328	0.001000	0.02609	0.2305:0.0:0.6397:0.1298	5.905	0.18235	620	0.66037	Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	353.83	38	chr16	1822354	.	G	A	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.114;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.234;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,18:38:99:364,0,463	5	0	1	0
chr16	2084981	2084983	CTT	-	exonic	TSC2	.	nonframeshift deletion	TSC2:NM_001318831:exon31:c.3792_3794del:p.F1266del,TSC2:NM_001318827:exon32:c.4215_4217del:p.F1407del,TSC2:NM_001318829:exon32:c.4179_4181del:p.F1395del,TSC2:NM_001077183:exon33:c.4323_4325del:p.F1443del,TSC2:NM_001318832:exon33:c.4356_4358del:p.F1454del,TSC2:NM_001363528:exon33:c.4326_4328del:p.F1444del,TSC2:NM_001114382:exon34:c.4455_4457del:p.F1487del,TSC2:NM_001370404:exon34:c.4392_4394del:p.F1466del,TSC2:NM_001370405:exon34:c.4395_4397del:p.F1467del,TSC2:NM_021055:exon34:c.4395_4397del:p.F1467del,TSC2:NM_000548:exon35:c.4524_4526del:p.F1510del	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1486	36	0	0	36	0.0119681	.	.	.	58464	Lung_lymphangioleiomyomatosis|Tuberous_sclerosis_2|Hereditary_cancer-predisposing_syndrome|not_specified|Tuberous_sclerosis_syndrome|not_provided	MONDO:MONDO:0006277,MedGen:C0349649,Orphanet:538|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0044	0.00399361	0.0053	0.0007	0.0010	0.0001	0.0053	0.0065	0.0045	0.0094	0.0006147	16	26028	rs137854239	0.0054	0.0054	0.0051	0.0056	0.0099	0.0053	0.0052	0.0094	0.0091	0.0006	0.0015	0.0338	7.557e-05	0.0048	0.0069	0.0048	0.0075	0.0099	0.0036	0.0036	0.0035	0.0038	0.0091	0.0034	0.0033	0.0070	0.0062	0.0006	0	0.0021	0.0302	0.0004	0.0061	0.0136	0.0039	0.0024	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	3695.79	215	chr16	2084980	.	CCTT	C	3695.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.14;DP=398;ExcessHet=0;FS=0.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.505;SOR=0.759	GT:AD:DP:GQ:PL	0/1:118,97:215:99:3706,0,4648	5	0	1	0
chr16	2088096	2088096	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.G4385A:p.R1462H,TSC2:NM_001318827:exon37:c.G4808A:p.R1603H,TSC2:NM_001318829:exon37:c.G4772A:p.R1591H,TSC2:NM_001077183:exon38:c.G4916A:p.R1639H,TSC2:NM_001318832:exon38:c.G4949A:p.R1650H,TSC2:NM_001363528:exon38:c.G4919A:p.R1640H,TSC2:NM_001114382:exon39:c.G5048A:p.R1683H,TSC2:NM_001370404:exon39:c.G4985A:p.R1662H,TSC2:NM_001370405:exon39:c.G4988A:p.R1663H,TSC2:NM_021055:exon39:c.G4988A:p.R1663H,TSC2:NM_000548:exon40:c.G5117A:p.R1706H	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	58618	Tuberous_sclerosis_syndrome|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|not_provided|Ovarian_cancer|TSC2-related_disorder|Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.603	0.0700155671428	.	0.000199681	5.831e-05	0	0	0	0	6.097e-05	0.0011	0.0001	5.82e-05	9	154602	rs45517392	9.791e-05	9.919e-05	0.0001	9.221e-05	0.0005	8.451e-05	7.928e-05	0.0001	7.541e-05	0	0.0001	0	0	5.756e-05	0.0005	9.622e-05	0.0003	8.115e-05	7.221e-05	7.218e-05	8.992e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.821e-05	0	0.0002	0.109	0.31532	T	0.043	0.50514	D	0.01	0.15535	B	0.007	0.12992	B	0.022613	0.26600	N	0.342750	0.992287	0.41604	D	1.095	0.27400	L	-3.59	0.94975	D	-1.59	0.45949	N	0.58	0.60156	0.105	0.84272	D	0.672	0.88650	D	10	0.21449265	0.37973	T	0.070016	0.70887	D	0.603	0.84345	0.51	0.60693	0.967183185669	0.96683	0.4366113362109103	0.43578	.	.	0.342073023319	0.16748	T	0.845342	0.96430	D	0.0768075	0.61665	D	0.141852	0.79665	D	0.0560189597308636	0.06528	T	0.90141	0.67446	D	0.14639221	0.33515	0.06258713	0.12267	0.19125472	0.40745	0.0706193	0.15024	-6.304	0.49992	T	0.23275594817303685	0.31504	0.075	0.14797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.530993	0.49542	22.8	0.99446760388939814	0.65071	0.75809	0.37137	D	AEFDGBCI	0.411570	0.48199	N	-0.142331394342387	0.35562	2.044224	0.00356565001258005	0.39880	2.371379	0.999999949781252	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	3.502000	0.53092	4.460000	0.43455	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.2457:0.0:0.7543:0.0	6.065	0.19085	779	0.47767	Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein 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	.	.	.	.	.	.	.	.	0.08333	1518.83	157	chr16	2088096	.	G	A	1518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.342;DP=337;ExcessHet=0;FS=1.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.058;SOR=0.852	GT:AD:DP:GQ:PL	0/1:96,61:157:99:1529,0,2600	5	0	1	0
chr16	2765312	2765312	G	A	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G4784A:p.R1595H	.	428	1058	34	2	0	38	0.0176416	.	.	.	797296	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00368844062729	7.7e-05	0.000998403	0.0014	9.643e-05	0.0005	0	0	0.0005	0.0033	0.0079	0.0012225	189	154602	rs200200979	0.0008	0.0008	0.0005	0.0010	0.0085	0.0007	0.0007	0.0079	0.0077	0.0003	0.0003	0.0023	0	0	0.0042	0.0002	0.0013	0.0085	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	0.0003	0	0.0001	0.0017	0	0	0	0.0002	0	0.0077	.	.	.	0.081	0.41742	T	0.002	0.09854	B	0.001	0.04355	B	0.020652	0.26995	N	0.323172	0.999999	0.08975	N	0.41	0.12415	N	1.54	0.30133	T	-0.7	0.19933	N	0.142	0.14196	-1.0345	0.19014	T	0.060	0.25127	T	10	0.0046723187	0.00098	T	0.003688	0.08527	T	0.026	0.05648	.	.	0.146414634003	0.14194	0.1364431615838375	0.13568	.	.	0.271656274796	0.06358	T	0.190352	0.54487	T	-0.609197	0.00128	T	-0.642718	0.09472	T	0.00358669416451388	0.00038	T	0.749925	0.37107	T	0.12951244	0.30247	0.051445775	0.08282	0.12951244	0.30247	0.051445775	0.08282	-5.79	0.44487	T	.	.	0.073	0.04681	B	.	.	1.644181	0.20984	15.00	0.85531461500215655	0.15951	0.54103	0.29534	D	AEFDGBCI	0.115013	0.22631	N	-0.707000716701725	0.15825	0.8009362	-0.710117507493587	0.16709	0.8851789	0.999994791410171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	2.24	0.27264	-0.049000	0.11879	0.420000	0.18209	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0811:0.0:0.6122:0.3067	7.373	0.25986	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.022727	0.1667	6495.06	235	chr16	2765312	.	G	A	6495.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=710;ExcessHet=0.4139;FS=1.75;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.301;SOR=0.566	GT:AD:DP:GQ:PL	0/1:116,119:235:99:3147,0,2810	4	0	2	0
chr16	3299432	3299432	T	A	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.A1183T:p.I395L	.	450	1059	13	0	0	13	0.00610042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0104207077987	0.0018	0.000798722	0.0016	0.0003	0.0021	0	0.0005	0.0024	0.0023	0	0.0015265	236	154602	rs145207288	0.0022	0.0022	0.0023	0.0021	0.0027	0.0021	0.0021	0.0024	0.0024	0.0004	0.0027	0.0045	0	0.0008	0.0023	0.0025	0.0026	1.289e-05	0.0019	0.0019	0.0019	0.0020	0.0066	0.0018	0.0017	0.0056	0.0052	0.0005	0	0.0066	0.0035	0	0.0002	0	0.0023	0.0019	0	0.643	0.04957	T	0.666	0.06386	T	0.041	0.21357	B	0.039	0.23607	B	0.000502	0.43753	U	0.000000	0.997858	0.22475	N	1.075	0.27130	L	0.12	0.61089	T	-0.19	0.09965	N	0.513	0.54409	-0.9584	0.39479	T	0.140	0.45960	T	10	0.007702917	0.00175	T	0.010421	0.26937	T	0.200	0.48430	0.735	0.86806	0.225215365344	0.22153	0.1286139566735163	0.12786	0.0778134673263	0.08756	0.406332075596	0.25949	T	0.031625	0.22125	T	-0.399097	0.02347	T	-0.350042	0.39201	T	0.0025765530234841	0.00027	T	0.49745	0.15470	T	0.049223363	0.08706	0.05352751	0.09033	0.049223363	0.08706	0.05352751	0.09032	-2.897	0.09113	T	.	.	0.152	0.33687	B	.	.	1.134757	0.15214	11.68	0.94012293775051725	0.24115	0.55782	0.29951	D	AEFBI	0.101663	0.20412	N	-0.255372111207272	0.30889	1.726689	-0.116239487075662	0.34734	2.001413	0.810814620834034	0.24351	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.32	4.23	0.49319	0.071000	0.14461	.	.	0.665000	0.62972	0.152000	0.23684	0.890000	0.27818	1.000000	0.97212	0.0:0.1037:0.0:0.8963	7.174	0.24909	707	0.57054	DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	2071.83	147	chr16	3299432	.	T	A	2071.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=331;ExcessHet=0;FS=2.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.157;SOR=0.516	GT:AD:DP:GQ:PL	0/1:71,76:147:99:2082,0,1873	5	0	1	0
chr16	3397449	3397449	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284527:exon2:c.C109T:p.R37C,ZSCAN32:NM_001324346:exon2:c.C109T:p.R37C	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00098910990251	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1041377937	2.431e-05	2.531e-05	1.834e-05	3.044e-05	0.0004	1.75e-05	1.544e-05	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	2.595e-05	5.17e-05	1.262e-05	7.883e-05	7.879e-05	6.423e-05	9.412e-05	0.0002	4.496e-05	3.512e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.107	0.92824	T	.	.	.	.	.	.	0.422356	0.12854	N	0.563913	1	0.19072	N	1.6	0.40776	L	3.11	0.08194	T	-3.99	0.73893	D	0.336	0.44090	-1.0670	0.10085	T	0.049	0.20908	T	9	0.52149886	0.62668	D	9.89E-4	0.01050	T	0.112	0.31546	0.781	0.90541	0.191931220699	0.18833	0.3669031860197119	0.36604	.	.	0.301833987236	0.10674	T	0.089042	0.39316	T	-0.356084	0.04357	T	-0.431193	0.29800	T	0.49236536026001	0.32350	T	0.935006	0.75644	D	0.39525682	0.60403	0.21650878	0.46281	0.39525682	0.60403	0.21650878	0.46280	-5.225	0.39195	T	.	.	0.443	0.61877	A	.;.;.;.;.;.	.;.;.;.;.;.	2.070923	0.26338	17.08	0.99780456053448641	0.86693	0.05911	0.11863	N	AEFDBI	0.072648	0.14505	N	-0.421950152465097	0.24702	1.335637	-0.572188987507591	0.20219	1.088362	0.997856691191687	0.36112	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.44	0.068	0.13679	0.475000	0.21874	.	.	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.198000	0.21837	0.303:0.1718:0.5252:0.0	4.155	0.09722	735	0.53711	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN 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	.	.	.	.	.	.	.	.	0.08333	2263.83	138	chr16	3397449	.	G	A	2263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=345;ExcessHet=0;FS=10.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.035;SOR=0.314	GT:AD:DP:GQ:PL	0/1:59,79:138:99:2274,0,1509	5	0	1	0
chr16	3583210	3583210	C	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040C:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	529942	Fanconi_anemia|Fanconi_anemia_complementation_group_P|SLX4-related_disorder|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0769940055134	7.7e-05	.	4.118e-05	9.61e-05	0.0003	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs199592185	3.147e-05	3.147e-05	3.675e-05	2.613e-05	0.0003	2.412e-05	2.157e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0003	3.058e-05	3.311e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.038288355	0.02237	T	0.076994	0.72664	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921263835035347	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.47611	0.00780	T	-0.636962	0.09893	T	0.0445509873201514	0.04520	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.085524	0.04903	1.485	0.91382111739403926	0.20648	0.25181	0.22621	N	AEFDBI	0.103731	0.20775	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1525.09	90	chr16	3583210	.	C	G	1525.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=282;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.61;SOR=0.645	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1059,0,1372	5	0	1	0
chr16	4740637	4740637	G	C	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon4:c.G761C:p.G254A	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00662175740691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	6.84e-07	1.369e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.399	0.92824	T	0.997	0.70673	D	0.906	0.64351	P	0.082431	0.20809	N	0.347901	1	0.08975	N	2.08	0.57402	M	2.16	0.19166	T	-3.91	0.73042	D	0.217	0.29429	-1.1009	0.03984	T	0.094	0.35604	T	10	0.15280077	0.28854	T	0.006622	0.17472	T	0.084	0.24469	0.174	0.08014	0.130388298395	0.12655	0.02128930318648242	0.02081	0.174296149125	0.19625	.	.	.	0.028454	0.51357	T	-0.20828	0.19622	T	-0.536956	0.18596	T	0.711056113243103	0.41252	D	0.720328	0.33319	T	0.16180047	0.36213	0.1988006	0.43731	0.16180047	0.36213	0.1988006	0.43730	-2.669	0.07046	T	.	.	0.191	0.44540	B	.;.;.	.;.;.	2.110251	0.26858	17.26	0.98526071725321107	0.42533	0.08442	0.14370	N	AEFDBI	0.049486	0.08555	N	-0.049162143785277	0.39639	2.340895	-0.257796811205905	0.29503	1.653466	0.99999045578469	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.586402	0.36253	0	.	.	3.63	3.63	0.40741	0.939000	0.28576	2.450000	0.32809	0.675000	0.71128	0.007000	0.17678	0.999000	0.35428	0.006000	0.07323	0.0:0.0:1.0:0.0	11.173	0.47808	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	463.83	39	chr16	4740637	.	G	C	463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=231;ExcessHet=0;FS=3.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.63;SOR=0.278	GT:AD:DP:GQ:PL	0/1:22,17:39:99:474,0,585	5	0	1	0
chr16	4861085	4861085	G	C	exonic	UBN1	.	nonsynonymous SNV	UBN1:NM_001079514:exon7:c.G1093C:p.V365L,UBN1:NM_001288656:exon7:c.G1093C:p.V365L	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0240231254245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755558783	6.846e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.012	0.63918	D	0.088	0.25022	B	0.091	0.29943	B	0.001244	0.39669	N	0.243760	0.979028	0.39520	D	0.69	0.16971	N	0.65	0.52642	T	-1.35	0.33598	N	0.489	0.53006	-1.0912	0.05335	T	0.064	0.26456	T	10	0.18519944	0.33930	T	0.024023	0.47001	T	0.085	0.24743	0.459	0.52590	0.292174397486	0.28832	0.26192828414315233	0.26105	0.105014416328	0.11870	0.488665491343	0.37253	T	0.20255	0.56075	T	-0.0658748	0.41983	T	-0.332401	0.41200	T	0.447916622741613	0.30721	T	0.845915	0.52533	T	0.077246025	0.17521	0.10350608	0.24836	0.077246025	0.17521	0.10350608	0.24836	-6.88	0.54121	T	0.2812359878745733	0.37658	0.359	0.57211	A	.;.;.	.;.;.	2.576417	0.33399	19.33	0.9886225591437916	0.47493	0.97484	0.75047	D	AEFBI	0.655030	0.62751	D	-0.253798727188051	0.30952	1.730808	-0.0714965006955997	0.36575	2.130201	0.999634998000631	0.41205	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.87	2.7	0.31007	4.828000	0.62420	0.664000	0.20530	0.672000	0.70159	1.000000	0.71638	0.040000	0.21562	0.995000	0.73285	0.54:0.0:0.46:0.0	6.190	0.19732	496	0.76301	Ubinuclein middle domain;.;Ubinuclein middle 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	.	.	.	.	.	.	.	.	0.08333	723.83	47	chr16	4861085	.	G	C	723.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.45;DP=225;ExcessHet=0;FS=8.409;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.96;SOR=2.271	GT:AD:DP:GQ:PL	0/1:25,22:47:99:734,0,725	5	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:81,43:148:99:111,0,1416	1	0	5	0
chr16	15076631	15076631	C	G	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon9:c.G695C:p.G232A,RRN3:NM_018427:exon10:c.G785C:p.G262A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.016992829088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.40319	T	0.059	0.46862	T	0.009	0.15093	B	0.03	0.21741	B	0.000135	0.49741	U	0.131649	1	0.81001	D	0.69	0.16971	N	1.24	0.40749	T	-0.34	0.13226	N	0.218	0.25377	-1.0297	0.20551	T	0.047	0.19998	T	10	0.12601775	0.23953	T	0.016993	0.38500	T	0.030	0.07022	0.419	0.46036	0.32580497728	0.32196	0.23575456028494804	0.23490	0.226659948742	0.25212	0.477560698986	0.35721	T	0.043892	0.26645	T	-0.212136	0.19080	T	-0.542495	0.18052	T	0.445906728506088	0.30646	T	0.818618	0.47570	T	0.045320805	0.07398	0.089902654	0.21051	0.045320805	0.07398	0.089902654	0.21050	-2.004	0.10786	T	.	.	0.075	0.09239	B	.;.;.;.;.	.;.;.;.;.	3.244254	0.44300	21.9	0.98010284227433275	0.37551	0.82228	0.41488	D	AEFBI	0.256398	0.37533	N	-0.615851649890615	0.18467	0.9590409	-0.402738729178658	0.24916	1.367185	0.00256297123607774	0.09535	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	3.77	0.42499	4.096000	0.57463	6.183000	0.54660	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0805:0.0:0.9195	10.165	0.42046	611	0.66908	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	413.83	32	chr16	15076631	.	C	G	413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.176;DP=216;ExcessHet=0;FS=7.079;MLEAC=1;MLEAF=0.083;MQ=59.41;MQRankSum=0.413;QD=12.93;ReadPosRankSum=0.038;SOR=2.303	GT:AD:DP:GQ:PL	0/1:18,14:32:99:424,0,546	5	0	1	0
chr16	22534139	22534139	A	C	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.A1156C:p.K386Q	.	688	828	6	0	0	6	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00251816905658	.	.	0.0026	0	0	0	0	0.0049	0	0	3.84e-05	1	26028	rs747838711	0.0004	0.0003	0.0003	0.0004	0.0037	0.0003	0.0003	0.0019	0.0014	0.0002	0.0002	0.0024	0	0	0.0037	0.0002	0.0007	0.0010	7.732e-05	0.0001	7.555e-05	7.916e-05	0.0002	1.279e-05	4.78e-06	2.644e-05	1.05e-05	0	0	0	0	0	0	0	0.0002	0	0	0.249	0.39097	T	0.329	0.26145	T	0.69	0.41631	P	0.72	0.54860	P	.	.	.	.	0.999998	0.08975	N	.	.	.	2.16	0.19166	T	-1.58	0.38151	N	0.098	0.07949	-1.0110	0.26604	T	0.068	0.27811	T	7	0.009697884	0.00218	T	0.002518	0.05037	T	0.073	0.21317	0.23	0.15705	0.0138822411134	0.00435	0.012349423033591987	0.01193	.	.	.	.	.	0.021785	0.16908	T	-0.27285	0.11440	T	-0.629706	0.10436	T	0.042061153077147	0.04066	T	0.657134	0.33779	T	0.164644	0.36686	0.107633755	0.25915	0.164644	0.36685	0.107633755	0.25914	-10.324	0.75829	D	.	.	0.534	0.66090	A	.;.;.;.;.;.	.;.;.;.;.;.	1.335908	0.17420	13.15	0.81816400437034165	0.13874	0.00436	0.02133	N	AEFI	0.025041	0.01649	N	-0.667495196499214	0.16952	0.8682191	-0.898643441091198	0.12127	0.6219524	1.72265783690442E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.942000	0.28615	-3.436000	0.02788	0.140000	0.17674	0.032000	0.20554	0.000000	0.08366	0.020000	0.11549	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	335.83	68	chr16	22534139	.	A	C	335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.531;DP=274;ExcessHet=0;FS=1.834;MLEAC=1;MLEAF=0.083;MQ=25.09;MQRankSum=-0.532;QD=4.94;ReadPosRankSum=-1.371;SOR=0.34	GT:AD:DP:GQ:PL	0/1:46,22:68:99:346,0,1068	5	0	1	0
chr16	29383375	29383375	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1557delT:p.E520Sfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0051	0.0028	0.0005	0	0.0003	.	.	.	.	0.0110	0.0070	0.0119	0.0103	0.0677	0.0108	0.0106	0.0650	0.0639	0.0111	0.0225	0.0054	0.0677	0.0108	0.0070	0.0060	0.0103	0.0082	0.0016	0.0003	0.0024	0.0008	0.0176	0.0007	0.0005	0.0048	0.0026	0	0	0	0	0.0176	0	0	0.0013	0	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	205.79	182	chr16	29383374	.	CA	C	205.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.176;DP=491;ExcessHet=0;FS=7.824;MLEAC=1;MLEAF=0.083;MQ=51.15;MQRankSum=2.8;QD=1.13;ReadPosRankSum=-3.553;SOR=1.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,152:182:99:0|1:29383374_CA_C:216,0,661:29383374	5	0	1	0
chr16	29384067	29384067	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C865G:p.L289V	.	490	1000	31	1	0	33	0.0162322	.	.	.	3886674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00158488070502	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202027988	0.0025	0.0051	0.0025	0.0025	0.0059	0.0024	0.0024	0.0038	0.0031	0.0013	0.0034	0.0092	0.0007	0.0040	0.0059	0.0024	0.0035	0.0017	0.0030	0.0051	0.0032	0.0028	0.0043	0.0027	0.0026	0.0038	0.0036	0.0005	0	0.0029	0.0074	0	0.0017	0.0069	0.0043	0.0008	0.0005	0.809	0.03044	T	0.677	0.06166	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	1.24	0.30952	L	2.11	0.19860	T	-0.14	0.09135	N	0.125	0.11769	-0.9730	0.36562	T	0.036	0.15422	T	5	0.020652711	0.00480	T	0.001585	0.02523	T	0.057	0.16321	0.6	0.73105	0.0666544352282	0.05500	0.012093240479471065	0.01168	.	.	.	.	.	0.004977	0.04407	T	-0.338299	0.05507	T	-0.72372	0.04618	T	0.00418858953756029	0.00045	T	0.487551	0.14930	T	0.06426165	0.13616	0.08630407	0.19986	0.06426165	0.13615	0.08630407	0.19986	-9.7	0.72096	D	.	.	0.202	0.42606	B	.	.	0.893099	0.12667	9.190	0.44852604465017715	0.03478	0.00304	0.01615	N	AEFDI	0.042671	0.06650	N	-0.899904461991242	0.10845	0.5202724	-1.10071547162413	0.07687	0.3748907	1.09537333666636E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	.	.	.	0.289000	0.18713	-4.996000	0.01894	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	1410.75	35	chr16	29384067	.	G	C	1410.75	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.762;DP=434;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=36.5;MQRankSum=-0.551;QD=28.04;ReadPosRankSum=1.07;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,34:35:67:1|1:29384017_G_A:1429,67,0:29384017	4	1	0	1
chr16	30007177	30007177	A	G	exonic	DOC2A	.	nonsynonymous SNV	DOC2A:NM_001282068:exon6:c.T650C:p.V217A,DOC2A:NM_003586:exon6:c.T650C:p.V217A,DOC2A:NM_001282062:exon7:c.T650C:p.V217A,DOC2A:NM_001282063:exon7:c.T650C:p.V217A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0148902556742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.559	0.35082	T	0.007	0.14184	B	0.005	0.11217	B	0.025816	0.26025	N	0.268850	0.932808	0.37034	D	0.235	0.09667	N	1.11	0.61677	T	-2.33	0.51646	N	0.105	0.08925	-1.0727	0.08830	T	0.047	0.20156	T	10	0.099024594	0.17943	T	0.01489	0.35296	T	0.033	0.08068	0.395	0.42099	0.540427443213	0.53695	0.38813032675662695	0.38728	0.437537583899	0.43807	0.475907772779	0.35494	T	0.160175	0.50391	T	-0.162042	0.26445	T	-0.470539	0.25457	T	0.447261273860931	0.30697	T	0.544846	0.19617	T	0.11666677	0.27514	0.10189175	0.24406	0.11666677	0.27513	0.10189175	0.24406	-6.03	0.46530	T	.	.	0.211	0.44643	B	.;.;.;.;.	.;.;.;.;.	2.612829	0.33937	19.49	0.98635014529071618	0.43974	0.75078	0.36745	D	AEFDGBCI	0.539085	0.55621	D	-0.530905874999377	0.21086	1.116475	-0.33881272779723	0.26857	1.486247	0.999971051639374	0.50053	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.14	2.88	0.32617	2.575000	0.45689	4.650000	0.44192	0.691000	0.84096	0.362000	0.25859	1.000000	0.68203	0.960000	0.51673	0.8248:0.0:0.1752:0.0	7.867	0.28704	74	0.96871	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	76	chr16	30007177	.	A	G	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.35;DP=257;ExcessHet=0;FS=5.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=0.461;SOR=1.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,37:76:99:0|1:30007177_A_G:1420,0,1515:30007177	5	0	1	0
chr16	30225638	30225638	C	G	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G808C:p.V270L,NPIPB13:NM_001321892:exon9:c.G808C:p.V270L	.	1091	421	5	4	1	14	0.0152047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0869475607694	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202025137	0.0015	0.0037	0.0016	0.0014	0.0072	0.0013	0.0012	0.0050	0.0043	0.0047	0.0072	0.0003	0.0003	0.0002	0.0021	0.0014	0.0022	0.0010	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.884	0.13403	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	1.31	0.35405	T	1.14	0.01166	N	0.103	0.08646	-0.9744	0.36257	T	0.035	0.15291	T	4	0.0025018156	0.00038	T	0.086948	0.74839	D	0.061	0.17616	0.426	0.47185	.	.	0.005461785062630527	0.00516	.	.	.	.	.	0.002966	0.02360	T	-0.295652	0.09077	T	-0.66246	0.08101	T	0.00112701050323918	0.00011	T	0.476552	0.14308	T	0.095700875	0.22528	0.09085976	0.21331	0.095700875	0.22527	0.09085976	0.21330	1.963	0.00053	T	.	.	0.142	0.31228	B	.;.	.;.	-0.811828	0.01084	0.048	0.62845941236739977	0.07068	0.00123	0.00769	N	AEFI	0.047204	0.07923	N	-0.701241767677131	0.15986	0.8105718	-0.708268021337421	0.16755	0.8878261	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.913000	0.01672	-1.731000	0.04830	-1.668000	0.00804	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	263	0.89692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	85.44	3	chr16	30225638	.	C	G	85.44	.	AC=2;AF=0.333;AN=6;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=30.29;QD=28.48;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:98,9,0	2	1	0	3
chr16	30445402	30445402	C	T	exonic	SEPHS2	.	unknown	UNKNOWN	.	432	1087	3	0	0	3	0.00137804	.	.	.	2234600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00535453694214	0.0012	0.000599042	0.0006	0	0.0005	0	0.0003	0.0010	0	8.749e-05	0.000414	64	154602	rs199977814	0.0005	0.0005	0.0006	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	6.016e-05	0.0002	0.0004	0	2.083e-05	0.0014	0.0006	0.0004	8.256e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0003	7.213e-05	0	0.0006	0.0006	0	0	0.0034	0.0005	0.0005	0	0.31	0.14017	T	0.502	0.11115	T	0.001	0.07471	B	0.002	0.06944	B	0.288056	0.14820	N	0.678614	1	0.21047	N	0.695	0.17993	N	0.92	0.44461	T	-0.45	0.14782	N	.	.	-1.0321	0.19777	T	0.041	0.17573	T	10	0.01179269	0.00256	T	0.005355	0.13710	T	0.027	0.05988	.	.	0.218845423259	0.21516	.	.	.	.	0.43881291151	0.30414	T	0.00695	0.06374	T	-0.604599	0.00137	T	-0.746557	0.03622	T	0.0107263604598186	0.00151	T	0.316168	0.06277	T	0.05404938	0.10317	0.07012991	0.14863	0.05404938	0.10316	0.07012991	0.14863	.	.	.	.	.	.	.	.	.	.	0.947722	0.13235	9.738	0.88313106317929901	0.17879	0.04861	0.10598	N	ALL	0.159826	0.28567	N	-1.20465308093638	0.04930	0.2236389	-1.15823762601123	0.06621	0.3193184	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.4	1.65	0.23015	0.594000	0.23715	0.008000	0.13396	-0.223000	0.07921	0.125000	0.23262	0.005000	0.19230	0.047000	0.14932	0.294:0.447:0.1429:0.1162	2.461	0.04263	260	0.89800	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.08333	1082.83	72	chr16	30445402	.	C	T	1082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.974;DP=247;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.493;SOR=0.52	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1093,0,855	5	0	1	0
chr16	31111999	31111999	A	T	exonic	BCKDK	.	nonsynonymous SNV	BCKDK:NM_001271926:exon10:c.A976T:p.S326C,BCKDK:NM_001122957:exon11:c.A1066T:p.S356C,BCKDK:NM_005881:exon11:c.A1066T:p.S356C	Branched-chain ketoacid dehydrogenase kinase deficiency	8	1511	3	0	0	3	0.000991736	.	.	.	274071	not_specified|not_provided|Branched-chain_keto_acid_dehydrogenase_kinase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013970,MedGen:C3554078,OMIM:614923,Orphanet:308410	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.426	0.0747116067431	0.0005	0.000199681	0.0008	0.0002	0.0003	0	0	0.0012	0.0022	0.0001	0.0006533	101	154602	rs142542453	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0004	0.0006	0.0004	5.974e-05	0.0003	0.0085	0	0	0.0012	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0	0	0.0001	0.0069	0	0	0	0.0003	0.0009	0.0002	0.005	0.63226	D	0.027	0.63918	D	0.924	0.51285	P	0.649	0.52426	P	0.000000	0.84330	D	0.037237	0.999993	0.58761	D	2.015	0.55033	M	-1.06	0.76819	T	-2.07	0.47344	N	0.555	0.61849	-0.0735	0.80698	T	0.442	0.77971	T	10	0.011356086	0.00249	T	0.074712	0.72109	D	0.426	0.73372	.	.	0.896479097939	0.89545	0.6884335814607504	0.68783	1.22719861685	0.81235	0.550096213818	0.45871	T	0.67654	0.90456	D	-0.174176	0.24606	T	-0.131591	0.60837	T	0.0534810887414713	0.06101	T	0.80432	0.45191	T	0.25393322	0.48418	0.13844654	0.33064	0.25393322	0.48418	0.13844654	0.33063	-9.428	0.70411	D	.	.	0.114	0.22500	B	.;.;.;.	.;.;.;.	4.091254	0.60938	24.3	0.99057715325789397	0.51413	0.93268	0.57765	D	AEFDBCI	0.925403	0.90489	D	0.531804737097128	0.68982	5.292683	0.582641915179052	0.73694	6.012882	0.99999999998808	0.74766	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.574000	0.73903	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	1.0:0.0:0.0:0.0	14.863	0.70032	52	0.97609	Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1413.83	125	chr16	31111999	.	A	T	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.793;DP=306;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.621;SOR=0.573	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1424,0,1990	5	0	1	0
chr16	31360327	31360327	C	T	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725T:p.A242V,ITGAX:NM_001286375:exon8:c.C725T:p.A242V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0288439097797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.841e-07	1.364e-06	0	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23905	T	0.123	0.35582	T	0.088	0.25022	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-1.74	0.83413	D	-1.27	0.31981	N	0.031	0.01740	-0.6974	0.60563	T	0.350	0.71383	T	9	0.09435028	0.16769	T	0.028844	0.51459	D	0.112	0.31546	0.409	0.44395	0.648717662934	0.64580	0.6046335867873865	0.60394	0.217283684552	0.24248	0.288068234921	0.08642	T	0.213551	0.57490	T	-0.0845231	0.38976	T	-0.359188	0.38146	T	0.0842277932490143	0.10519	T	0.150185	0.01264	T	0.14685659	0.33598	0.10920148	0.26316	0.14685659	0.33597	0.10920148	0.26316	-4.283	0.27938	T	.	.	0.106	0.21728	B	.;.	.;.	1.855993	0.23579	16.07	0.93623601435904025	0.23493	0.11361	0.16583	N	AEFDBI	0.094384	0.19085	N	-0.769014013508098	0.14123	0.7009479	-0.791100451075498	0.14713	0.7702154	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	.	.	.	.	.	.	.	.	0.1667	37.97	36	chr16	31360327	.	C	T	37.97	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.359;DP=235;ExcessHet=0;FS=53.87;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.353;SOR=6.445	GT:AD:DP:GQ:PL	0/1:21,8:36:45:45,0,428	2	0	1	3
chr16	46581891	46581891	A	C	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon12:c.T1623G:p.I541M,SHCBP1:NM_001324318:exon13:c.T1743G:p.I581M,SHCBP1:NM_024745:exon13:c.T1857G:p.I619M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00307378671563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.063	0.45110	T	0.011	0.15914	B	0.002	0.06944	B	0.005669	0.32605	N	0.323109	0.999823	0.20203	N	0	0.06538	N	1.94	0.22678	T	-0.26	0.11185	N	0.027	0.00571	-1.0316	0.19937	T	0.021	0.08639	T	10	0.040402383	0.02606	T	0.003074	0.06636	T	0.048	0.13305	0.263	0.20788	0.149567049428	0.14543	0.2709577035621232	0.27008	0.269835438501	0.29508	0.496988385916	0.38408	T	0.021522	0.16743	T	-0.314765	0.07336	T	-0.689914	0.06394	T	0.0610214699037522	0.07329	T	0.613939	0.23413	T	0.08387657	0.19387	0.07754071	0.17283	0.08387657	0.19387	0.07754071	0.17283	-3.689	0.19156	T	.	.	0.063	0.01408	B	.	.	1.176853	0.15667	12.02	0.97859045179235604	0.36452	0.24375	0.22374	N	AEFDBI	0.061132	0.11665	N	-0.687102172518043	0.16388	0.8345195	-0.583368069212289	0.19927	1.071319	0.115866995803127	0.16765	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.06	0.026	0.13469	-0.181000	0.09734	0.189000	0.15722	0.631000	0.51895	0.351000	0.25767	0.309000	0.24262	0.990000	0.65344	0.4801:0.3291:0.082:0.1087	3.751	0.08090	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1679.83	133	chr16	46581891	.	A	C	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=314;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.659;SOR=0.594	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1690,0,2019	5	0	1	0
chr16	56890342	56890342	T	C	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon19:c.T2354C:p.M785T,SLC12A3:NM_001126107:exon19:c.T2351C:p.M784T,SLC12A3:NM_001126108:exon19:c.T2354C:p.M785T	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0549004121907	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs772274332	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.486	0.10838	T	0.353	0.17320	T	0.0	0.02946	B	0.0	0.01387	B	0.372546	0.13505	N	0.726383	1	0.08975	N	-0.805	0.01590	N	-3.23	0.93414	D	-0.52	0.16187	N	0.245	0.27673	-0.5449	0.66978	T	0.484	0.80301	T	10	0.08454341	0.14181	T	0.055	0.66033	D	0.255	0.56562	0.411	0.44723	0.395143324098	0.39128	0.4225298337756268	0.42169	0.100496245403	0.11355	0.355583757162	0.18741	T	0.262628	0.63422	T	-0.114218	0.34071	T	-0.401843	0.33171	T	0.0202552918344736	0.00725	T	0.249275	0.08000	T	0.04576515	0.07548	0.08157727	0.18549	0.04576515	0.07548	0.08157727	0.18548	-4.843	0.35532	T	0.08347476118864898	0.04511	0.105	0.20896	B	.;.;.;.	.;.;.;.	1.000964	0.13794	10.34	0.45170092102801562	0.03526	0.11856	0.16905	N	AEFDBI	0.123844	0.23964	N	-0.904077611692608	0.10745	0.5150473	-0.783865484662216	0.14890	0.780397	0.0715561454905268	0.15571	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	3.16	0.35406	0.637000	0.24348	0.488000	0.18872	0.665000	0.62972	0.047000	0.21291	0.999000	0.35428	0.457000	0.28051	0.0:0.1009:0.0:0.8991	9.763	0.39713	599	0.68140	.;.;SLC12A transporter, C-terminal;SLC12A transporter, 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	.	.	.	.	.	.	.	.	0.08333	978.83	66	chr16	56890342	.	T	C	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.8;DP=243;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.103;SOR=0.357	GT:AD:DP:GQ:PL	0/1:29,37:66:99:989,0,857	5	0	1	0
chr16	67660199	67660199	C	T	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon1:c.G22A:p.V8I,ACD:NM_022914:exon1:c.G22A:p.V8I	.	384	1125	12	1	0	14	0.00618375	.	.	.	429837	Dyskeratosis_congenita,_autosomal_dominant_6|not_provided|ACD-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	.	0.0007	0.000998403	0.0008	0.0006	0.0012	0	0	0.0010	0.0059	0.0005	0.000718	111	154602	rs149365469	0.0006	0.0006	0.0005	0.0006	0.0290	0.0005	0.0005	0.0254	0.0240	0.0007	0.0011	0.0020	0	0	0.0290	0.0004	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0018	0.0005	0.0005	0.0012	0.0011	0.0005	0	0.0018	0.0009	0	0	0.0374	0.0004	0.0028	0.0006	.	.	.	0.031	0.53788	D	0.355	0.33731	B	0.073	0.28123	B	0.053064	0.22840	N	0.313336	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.088	0.16028	-1.0467	0.15332	T	0.045	0.19194	T	10	0.009870857	0.00221	T	.	.	.	0.019	0.03383	.	.	0.146414634003	0.14194	0.09386438995845912	0.09318	0.139486507341	0.15724	0.479659438133	0.36009	T	0.229699	0.59558	T	-0.575093	0.00206	T	-0.649298	0.09002	T	0.0149048827742313	0.00317	T	0.672333	0.28093	T	0.12558973	0.29437	0.1416343	0.33721	0.17041984	0.37615	0.14991881	0.35377	.	.	.	0.3533138073722568	0.45034	0.138	0.35870	B	.;.;.;.;.;.	.;.;.;.;.;.	1.979646	0.25148	16.66	0.98905138345194532	0.48272	0.13423	0.17847	N	ALL	0.101833	0.20442	N	-0.641788692678365	0.17700	0.9130168	-0.68079355440786	0.17441	0.9274243	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.47	0.38831	0.057000	0.14157	2.200000	0.31279	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.185000	0.21450	0.0:0.8751:0.0:0.1249	7.470	0.26514	42	0.97857	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.030303	0.013624	0.061404	0.000000	0.043103	0.000000	0.003788	0.08333	984.83	78	chr16	67660199	.	C	T	984.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.241;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.681;SOR=0.728	GT:AD:DP:GQ:PL	0/1:41,37:78:99:995,0,1072	5	0	1	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel 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	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1667	6133.06	340	chr16	70156667	.	C	T	6133.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.8;DP=794;ExcessHet=0.4139;FS=1.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.92;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:175,165:340:99:.:.:4520,0,4534:.	4	0	2	0
chr16	70474641	70474641	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon17:c.C2102T:p.P701L	.	431	1087	4	0	0	4	0.00183655	.	.	.	1674288	FCSK-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	0.02209013431	0.0022	0.000399361	0.0028	0.0005	0.0019	0	0.0019	0.0048	0	0.0004	0.0012872	199	154602	rs17883716	0.0020	0.0020	0.0021	0.0020	0.0024	0.0020	0.0019	0.0021	0.0021	0.0003	0.0011	0.0065	0	0.0016	0.0024	0.0022	0.0027	0.0007	0.0016	0.0016	0.0017	0.0015	0.0022	0.0014	0.0013	0.0019	0.0018	0.0005	0.0033	0.0014	0.0095	0	0.0011	0	0.0022	0.0014	0.0002	0.044	0.41096	D	0.15	0.39645	T	0.955	0.54515	P	0.267	0.39770	B	0.000110	0.50451	N	0.176184	0.999999	0.58761	D	1.96	0.53105	M	3.12	0.09450	T	-4.86	0.81187	D	0.212	0.27197	-1.0076	0.27665	T	0.023	0.09923	T	10	0.009066969	0.00205	T	0.02209	0.44941	T	0.123	0.34020	.	.	0.454426139905	0.45068	0.6308581257627603	0.63019	0.065297728541	0.07291	0.462691396475	0.33680	T	0.400324	0.75793	T	-0.446816	0.01179	T	-0.420455	0.31024	T	0.059460497673383	0.07083	T	0.756024	0.39533	T	0.09423522	0.22152	0.1124079	0.27122	0.088552795	0.20660	0.09575478	0.22722	-8.413	0.63851	D	.	.	0.114	0.22609	B	.;.;.	.;.;.	3.031291	0.40608	21.2	0.99432932447811506	0.64374	0.80669	0.40247	D	AEFDBCI	0.397666	0.47365	N	-0.0499106597354057	0.39607	2.338368	-0.00350760265142902	0.39556	2.347212	0.999441380299213	0.39736	0.732398	0.92422	0	0.743671	0.97443	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.77	3.72	0.41857	3.005000	0.49208	1.403000	0.26213	-0.182000	0.10109	0.992000	0.37556	0.787000	0.26830	0.345000	0.25546	0.146:0.7799:0.0:0.0741	9.031	0.35422	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	0.002538	0.000000	0.004087	0.000000	0.000000	0.000000	0.006173	0.000000	0.08333	1044.83	66	chr16	70474641	.	C	T	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.279;DP=228;ExcessHet=0;FS=9.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.236;SOR=0.424	GT:AD:DP:GQ:PL	0/1:23,43:66:99:1055,0,587	5	0	1	0
chr16	70687972	70687972	G	A	exonic	VAC14	.	nonsynonymous SNV	VAC14:NM_001351157:exon18:c.C1603T:p.R535W,VAC14:NM_018052:exon19:c.C2305T:p.R769W	Striatonigral degeneration, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.032162679102	.	.	8.572e-06	0	0	0	0	1.544e-05	0	0	6.5e-06	1	154602	rs758556490	1.389e-05	2.531e-05	1.378e-05	1.4e-05	1.273e-05	9.07e-06	7.37e-06	7.39e-06	5.78e-06	0	0	0	0	0	0	1.273e-05	0.0001	0	1.313e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.013	0.67890	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	.	.	.	-2.89	0.65283	D	0.678	0.68516	-0.5276	0.67632	T	0.275	0.64691	T	9	0.7139844	0.73226	D	0.032163	0.54066	D	0.594	0.83857	0.629	0.76478	0.198222871337	0.19423	0.4059982439727694	0.40515	1.29207387054	0.82819	0.645174384117	0.59300	T	0.520177	0.83206	D	0.241975	0.77849	D	0.109804	0.77560	D	0.962183058261871	0.66295	D	0.967803	0.88325	D	0.42539227	0.62449	0.34732255	0.60388	0.42539227	0.62450	0.34732255	0.60387	-5.475	0.41633	T	0.22304313355537989	0.30101	0.229	0.46097	B	.;.	.;.	6.086120	0.94526	34	0.99917921378628105	0.98518	0.98947	0.89017	D	AEFDBI	0.872398	0.79423	D	0.612484223473893	0.73962	6.052752	0.643654426658578	0.78139	6.816522	0.999999999917327	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.635259	0.50027	0	.	.	5.44	5.44	0.79348	5.824000	0.68964	9.874000	0.82149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	19.269	0.93987	341	0.85936	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1035.83	62	chr16	70687972	.	G	A	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=235;ExcessHet=0;FS=2.161;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-0.264;SOR=0.46	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1046,0,606	5	0	1	0
chr16	71626482	71626482	C	A	exonic	MARVELD3	.	nonsynonymous SNV	MARVELD3:NM_001017967:exon1:c.C253A:p.P85T,MARVELD3:NM_001271329:exon1:c.C253A:p.P85T,MARVELD3:NM_052858:exon1:c.C253A:p.P85T	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00475299881598	0.0003	.	0.0006	0	0	0	0	0.0015	0	0	0.0002393	37	154602	rs201459139	0.0004	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0030	0.0004	0.0036	0	0	0.0068	0.0002	0.0012	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	7.898e-05	0.0002	0	0.0003	0.0049	0	0	0.0068	0.0002	0.0019	0	0.423	0.09746	T	0.11	0.37310	T	0.014	0.16867	B	0.004	0.10090	B	1.000000	0.07966	U	0.379473	1	0.08975	N	0.69	0.16971	N	1.06	0.41392	T	-2.89	0.60665	D	0.039	0.01421	-1.0118	0.26353	T	0.043	0.18493	T	10	0.0050797462	0.00110	T	0.004753	0.11847	T	0.022	0.04323	.	.	0.0762999501168	0.06990	0.14793051786002642	0.14715	0.249479662165	0.27528	0.513735115528	0.40745	T	0.009625	0.08755	T	-0.478659	0.00753	T	-0.582606	0.14313	T	0.0157016755764648	0.00362	T	0.478252	0.15660	T	0.06332128	0.13322	0.07631251	0.16891	0.06332128	0.13322	0.07631251	0.16891	-4.875	0.37590	T	.	.	0.086	0.15025	B	.;.;.;.	.;.;.;.	0.273941	0.06514	2.994	0.64503548265276089	0.07512	0.02354	0.06714	N	AEFDBHCI	0.057573	0.10738	N	-1.37389337514624	0.02884	0.1280302	-1.40053179346747	0.03247	0.1510866	0.999946740745735	0.47345	0.441713	0.08003	0	0.491552	0.07993	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.36	-0.351	0.11976	0.073000	0.14504	0.656000	0.20461	-0.522000	0.04976	0.002000	0.15269	0.017000	0.20586	0.030000	0.13115	0.0:0.5724:0.4276:0.0	9.134	0.36025	107	0.95615	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004476	0.005618	0.005415	0.006897	0.000000	0.012195	0.000000	0.005051	0.08333	1130.83	95	chr16	71626482	.	C	A	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=333;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=2.39;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1141,0,1230	5	0	1	0
chr16	71979913	71979913	C	T	splicing	PKD1L3	NM_181536:exon9:c.1272-1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0001	0	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs200969421	0.0003	0.0003	0.0003	0.0003	0.0051	0.0003	0.0003	0.0036	0.0032	0.0006	0.0010	0	0	0	0.0051	0.0003	0.0007	7.605e-05	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0008	0.0006	0.0003	0	0.0012	0	0.0002	0	0.0068	0.0002	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236462	0.15802	T	-0.162879	0.58093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.403369	0.47175	22.4	0.95595396968130975	0.27324	0.67343	0.33398	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999993830767098	0.74766	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.939639	0.60083	5.23	5.23	0.72570	3.173000	0.50540	4.851000	0.45376	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	0.0:1.0:0.0:0.0	14.319	0.66033	95	0.96074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	982.83	73	chr16	71979913	.	C	T	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=286;ExcessHet=0;FS=6.239;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.922;SOR=1.415	GT:AD:DP:GQ:PL	0/1:35,38:73:99:993,0,932	5	0	1	0
chr16	72056596	72056596	-	T	exonic	HP	.	stopgain	HP:NM_001318138:exon3:c.156dupT:p.K53*,HP:NM_005143:exon3:c.156dupT:p.K53*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	369.8	23	chr16	72056596	.	G	GT	369.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.741;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.72;MQRankSum=-0.87;QD=16.08;ReadPosRankSum=-0.586;SOR=0.776	GT:AD:DP:GQ:PL	0/1:11,12:23:99:380,0,312	5	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	850.83	65	chr16	75224755	.	G	C	850.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.916;DP=241;ExcessHet=0;FS=0.942;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.289;SOR=0.527	GT:AD:DP:GQ:PL	0/1:31,34:65:99:861,0,855	5	0	1	0
chr16	84236780	84236780	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G706A:p.V236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0345620348679	0.0008	0.000399361	0.0003	0.0025	0.0004	0	0	4.57e-05	0	0.0002	0.0002587	40	154602	rs138891680	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0023	0.0021	0.0027	0.0004	0	2.519e-05	0	0.0021	6.565e-05	0.0005	0.0002	0.0009	0.0009	0.0009	0.0010	0.0026	0.0008	0.0007	0.0022	0.0021	0.0026	0.0110	0.0008	0	0	0	0	5.88e-05	0.0009	0.0004	0.808	0.06125	T	0.347	0.18449	T	0.167	0.30970	B	0.053	0.25678	B	0.007932	0.31115	N	0.327658	0.858968	0.28385	N	1.215	0.30540	L	-4.37	0.97343	D	0.03	0.07736	N	0.133	0.12913	-0.0335	0.81556	T	0.708	0.89954	D	10	0.012223482	0.00264	T	0.034562	0.55756	D	0.194	0.47447	.	.	0.522611632499	0.51906	0.3810512025514532	0.38020	0.0390815817227	0.04159	0.297465831041	0.10025	T	0.26476	0.63657	T	-0.358961	0.04189	T	-0.290189	0.45754	T	0.00516474160181022	0.00056	T	0.835916	0.55237	T	0.037784595	0.04910	0.03104677	0.01641	0.037784595	0.04909	0.03104677	0.01641	-4.715	0.33585	T	.	.	0.071	0.12607	B	.;.	.;.	1.680094	0.21411	15.19	0.9245255467406297	0.21877	0.12673	0.17411	N	AEFDBI	0.082549	0.16716	N	-0.761463508671597	0.14323	0.7125814	-0.637524322857128	0.18532	0.9904083	0.0138572306135983	0.12519	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.11	3.14	0.35196	0.243000	0.17880	2.122000	0.30726	-0.300000	0.06199	0.022000	0.19841	0.974000	0.29927	0.471000	0.28363	0.0:0.6926:0.0:0.3074	8.716	0.33569	867	0.32089	Ion transport 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	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	965.83	66	chr16	84236780	.	C	T	965.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=282;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.075;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,27:66:99:0|1:84236775_G_A:976,0,1519:84236775	5	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	183.06	140	chr16	88436039	.	G	C	183.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.655;DP=559;ExcessHet=0.4139;FS=169.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.77;SOR=8.662	GT:AD:DP:GQ:PL	0/1:90,41:140:73:73,0,1588	4	0	2	0
chr16	88577547	88577547	G	A	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.G424A:p.V142I,ZC3H18:NM_144604:exon2:c.G424A:p.V142I	.	416	1102	3	1	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00946955031183	0.0002	0.000399361	0.0003	0	0.0004	0.0006	0	0.0003	0.0012	0.0001	0.0002911	45	154602	rs150103777	0.0003	0.0003	0.0003	0.0003	0.0044	0.0003	0.0003	0.0030	0.0026	0.0005	0.0007	0	0.0002	0	0.0044	0.0003	0.0006	0.0002	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0006	0	0.0034	0.0003	0.0014	0	0.24	0.28646	T	0.195	0.28032	T	0.165	0.28508	B	0.024	0.20255	B	0.953339	0.08272	N	0.979822	1	0.08975	N	0.345	0.11182	N	1.56	0.30401	T	-0.24	0.11547	N	0.047	0.01911	-1.0131	0.25943	T	0.036	0.15465	T	10	0.0104650855	0.00233	T	0.00947	0.24809	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.009428503997717533	0.00905	0.0174218707181	0.01692	0.307835757732	0.11579	T	0.03164	0.22134	T	-0.631773	0.00093	T	-0.746395	0.03628	T	0.0110759496282871	0.00161	T	0.751525	0.44511	T	0.015355482	0.00134	0.023681344	0.00381	0.015355482	0.00134	0.023681344	0.00381	-6.108	0.47174	T	.	.	0.078	0.07083	B	.;.	.;.	1.779648	0.22627	15.70	0.97799465001314945	0.36052	0.33500	0.24843	N	AEFBCI	0.078293	0.15793	N	-0.866665601223669	0.11642	0.5629426	-0.840534920185989	0.13515	0.7015234	0.999992338771867	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.48	1.29	0.20717	1.995000	0.40386	0.768000	0.21372	-0.106000	0.15538	0.020000	0.19661	0.000000	0.08366	0.056000	0.15673	0.1945:0.226:0.5796:0.0	7.172	0.24901	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006054	0.015152	0.006793	0.005848	0.000000	0.000000	0.006173	0.003788	0.08333	1730.83	117	chr16	88577547	.	G	A	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.153;SOR=0.714	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1741,0,1518	5	0	1	0
chr16	88719920	88719920	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon43:c.G6205A:p.V2069M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	428	1083	9	2	0	13	0.00596604	.	.	.	799967	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.184	0.115519472277	0.0011	.	0.0012	0.0009	0	0	0	0.0021	0.0056	0.0004	0.0002135	33	154602	rs199752762	0.0006	0.0006	0.0006	0.0006	0.0077	0.0006	0.0005	0.0059	0.0053	0.0005	0.0011	0.0090	0	0	0.0077	0.0004	0.0013	0.0005	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0007	0.0005	0.0002	0	0.0010	0.0069	0	0	0.0204	0.0005	0.0019	0.0004	0.004	0.65419	D	0.003	0.76473	D	0.919	0.50927	P	0.338	0.42306	B	0.000000	0.84330	D	0.000000	0.998448	0.44926	D	1.32	0.33002	L	1.47	0.31987	T	-2.7	0.57599	D	0.716	0.71854	-0.9889	0.32878	T	0.108	0.39246	T	9	0.0132112205	0.00281	T	0.115519	0.79472	D	0.195	0.47612	.	.	0.110392049598	0.10638	0.5887971450332024	0.58809	.	.	0.84056186676	0.88179	D	0.113814	0.43114	T	-0.333173	0.05874	T	-0.307704	0.43906	T	0.0377087710878733	0.03281	T	0.966803	0.87909	D	0.40434894	0.61032	0.36538547	0.61888	0.40434894	0.61032	0.36538547	0.61888	-7.949	0.60721	D	0.4864108922574664	0.56411	0.388	0.58913	A	.	.	4.393139	0.67818	25.1	0.99714505743944926	0.81563	0.95146	0.63607	D	AEFBCI	0.826402	0.74590	D	0.464592473955914	0.65036	4.77216	0.497333932460259	0.67811	5.134536	0.999999981131242	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	5.884000	0.69473	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	19.888	0.96918	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005760	0.010870	0.006410	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	1455.83	114	chr16	88719920	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.69;SOR=0.698	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1466,0,1442	5	0	1	0
chr16	88866361	88866361	C	G	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.G246C:p.L82F,PABPN1L:NM_001294328:exon3:c.G246C:p.L82F,PABPN1L:NM_001385709:exon3:c.G246C:p.L82F	.	377	1130	15	0	0	15	0.00659341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0067	0.00678914	0.0079	0.0023	0.0101	0	0	0.0148	0.0109	0.0023	0.0031436	486	154602	rs146771138	0.0098	0.0094	0.0097	0.0098	0.0223	0.0096	0.0096	0.0191	0.0179	0.0024	0.0133	0.0142	2.798e-05	0.0072	0.0223	0.0106	0.0105	0.0025	0.0096	0.0096	0.0098	0.0095	0.0146	0.0092	0.0090	0.0136	0.0133	0.0024	0	0.0146	0.0138	0.0002	0.0072	0.0306	0.0143	0.0114	0.0019	0.405	0.10311	T	0.668	0.06386	T	0.01	0.50336	B	0.008	0.42432	B	0.253097	0.03659	N	1.539410	1	0.08975	N	0	0.06538	N	2.7	0.12162	T	-1.15	0.30555	N	0.051	0.03613	-1.0313	0.20034	T	0.006	0.02206	T	10	0.004073918	0.00080	T	.	.	.	0.019	0.03383	0.142	0.04556	0.0401082797425	0.02173	0.07926362312666765	0.07861	0.00999591242172	0.00916	0.277724415064	0.07177	T	0.008757	0.08018	T	-0.711087	0.00031	T	-0.777947	0.02516	T	0.00569000085141165	0.00062	T	0.152385	0.03851	T	0.04209838	0.06321	0.04503431	0.05971	0.04209838	0.06321	0.04503431	0.05971	-5.191	0.41568	T	.	.	0.099	0.23952	B	.;.;.	.;.;.	-0.354339	0.02388	0.265	0.51160133314860212	0.04513	0.01813	0.05646	N	AEFDGBI	0.111747	0.22114	N	-1.77571958482515	0.00607	0.02617288	-1.92697036149558	0.00433	0.01914093	0.9999656905403	0.48965	0.580535	0.33130	0	0.759151	0.99529	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.68	-9.36	0.00533	-2.326000	0.01195	-4.577000	0.02086	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1883:0.5072:0.1893:0.1152	5.089	0.14031	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	0	0	0.013158	0.041237	0.011673	0.000000	0.000000	0.025000	0.014815	0.004950	0.25	2326.03	54	chr16	88866361	.	C	G	2326.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.506;DP=285;ExcessHet=1.383;FS=2.708;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.02;SOR=0.51	GT:AD:DP:GQ:PL	0/1:22,32:54:99:863,0,519	3	0	3	0
chr17	2364618	2364618	G	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon9:c.G955A:p.V319M,SGSM2:NM_001346700:exon9:c.G955A:p.V319M,SGSM2:NM_014853:exon9:c.G955A:p.V319M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0089606847778	.	.	8.237e-05	0	0	0	0	1.498e-05	0	0.0005	7.76e-05	12	154602	rs141890015	4.925e-05	4.925e-05	4.084e-05	5.775e-05	0.0007	3.992e-05	3.669e-05	0.0005	0.0005	5.974e-05	0	0	0	0	0.0002	8.993e-06	0	0.0007	1.971e-05	1.97e-05	2.57e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.276e-05	3.024e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.048	0.40068	D	0.04	0.50809	D	0.063	0.41464	B	0.014	0.31939	B	0.000003	0.62929	D	0.101592	0.541713	0.32060	D	0	0.06538	N	1.62	0.28189	T	-0.96	0.25551	N	0.387	0.47487	-1.0554	0.12934	T	0.028	0.12014	T	10	0.07896933	0.12649	T	0.008961	0.23607	T	0.082	0.23913	.	.	0.33440975612	0.33058	0.18053980416983068	0.17972	0.141933814377	0.16002	0.514331817627	0.40829	T	0.022871	0.17556	T	-0.464468	0.00921	T	-0.525457	0.19744	T	0.152474073941708	0.17299	T	0.949755	0.83015	D	0.08351023	0.19289	0.11111045	0.26799	0.08351023	0.19289	0.11111045	0.26799	-6.894	0.53255	T	.	.	0.139	0.33249	B	.;.;.;.	.;.;.;.	3.722763	0.53211	23.3	0.99833185690750559	0.91456	0.87844	0.47525	D	AEFGBI	0.310520	0.41652	N	-0.015868967969987	0.41137	2.455299	0.157835701404637	0.47559	2.984287	0.850804064542585	0.25041	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	3.71	0.41733	5.196000	0.64973	3.843000	0.40051	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4008:0.0:0.5992:0.0	4.448	0.11030	671	0.60868	.;Small G protein signalling modulator 1/2, 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	.	.	.	.	.	.	.	.	0.08333	2438.83	166	chr17	2364618	.	G	A	2438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.978;DP=344;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.482;SOR=0.631	GT:AD:DP:GQ:PL	0/1:69,97:166:99:2449,0,1566	5	0	1	0
chr17	3679660	3679660	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.G1117A:p.E373K,P2RX5:NM_175080:exon10:c.G1114A:p.E372K,P2RX5:NM_001204519:exon11:c.G1186A:p.E396K,P2RX5:NM_002561:exon11:c.G1189A:p.E397K	.	402	1087	32	1	0	34	0.0153986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0048	0.0183706	0.0104	0.0035	0.0030	0.0511	0.0006	0.0042	0.0111	0.0274	0.0098964	1530	154602	rs61748727	0.0075	0.0075	0.0070	0.0081	0.0391	0.0074	0.0074	0.0375	0.0368	0.0030	0.0044	0.0110	0.0391	0.0004	0.0130	0.0051	0.0097	0.0289	0.0067	0.0067	0.0062	0.0073	0.0480	0.0064	0.0062	0.0431	0.0412	0.0024	0.0417	0.0085	0.0104	0.0480	0.0008	0.0136	0.0045	0.0061	0.0288	0.085	0.36709	T	0.459	0.15988	T	0.009	0.15093	B	0.005	0.11217	B	0.003163	0.00943	U	4.829560	1	0.08975	N	0.805	0.20218	L	3.58	0.07024	T	-1.03	0.27052	N	0.12	0.16864	-1.0207	0.23486	T	0.013	0.04985	T	10	0.0026265383	0.00040	T	.	.	.	0.027	0.05988	.	.	.	.	0.32909414989104496	0.32822	0.170619428235	0.19229	0.410854518414	0.26575	T	0.023551	0.24544	T	-0.619439	0.00111	T	-0.623828	0.10888	T	0.00460929252969279	0.00049	T	0.527447	0.17405	T	0.043295294	0.06722	0.04209709	0.04935	0.043295294	0.06721	0.04209709	0.04935	-4.164	0.26243	T	.	.	0.080	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	0.632734	0.10012	6.765	0.94367969056869849	0.24731	0.04858	0.10594	N	AEFDBCI	0.039617	0.05780	N	-1.0453927655838	0.07678	0.3575069	-1.17833409566815	0.06273	0.3014294	0.0319125723097908	0.14028	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.99	-0.74	0.10555	0.032000	0.13620	-0.020000	0.12938	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3352:0.286:0.3788	3.804	0.08288	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.008772	0.050000	0.000000	0.012195	0.045455	0.08333	732.83	58	chr17	3679660	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.358;SOR=0.71	GT:AD:DP:GQ:PL	0/1:30,28:58:99:743,0,739	5	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	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	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.08333	1502.83	88	chr17	6425710	.	C	A	1502.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=263;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-2.298;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,54:88:99:1513,0,784	5	0	1	0
chr17	8076313	8076313	C	A	exonic	ALOX12B	.	nonsynonymous SNV	ALOX12B:NM_001139:exon11:c.G1394T:p.G465V	Ichthyosis, congenital, autosomal recessive 2, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	346363	Autosomal_recessive_congenital_ichthyosis_2|ALOX12B-related_disorder|not_provided	MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.140	0.0219978733821	0.0015	0.000399361	0.0023	0.0001	0.0003	0	0.0089	0.0029	0.0016	0.0014	0.0015071	233	154602	rs145344421	0.0018	0.0018	0.0017	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0002	0.0010	3.838e-05	0	0.0058	0.0010	0.0018	0.0012	0.0015	0.0017	0.0017	0.0012	0.0022	0.0023	0.0015	0.0015	0.0016	0.0014	0.0003	0	0.0022	0	0.0002	0.0072	0	0.0017	0.0024	0.0023	0.227	0.18498	T	0.166	0.30828	T	0.0	0.02946	B	0.001	0.04355	B	0.330521	0.14122	N	0.718377	0.955457	0.37926	D	-0.695	0.01866	N	-1.02	0.76300	T	0.33	0.03889	N	0.239	0.26957	-0.9197	0.45594	T	0.207	0.56594	T	10	0.009960473	0.00223	T	0.021998	0.44841	T	0.140	0.37593	.	.	0.326345978581	0.32251	0.4272927939233823	0.42646	0.668839237153	0.59315	0.323818325996	0.13998	T	0.165078	0.51078	T	-0.472936	0.00815	T	-0.457974	0.26820	T	0.0026816340667359	0.00028	T	0.445455	0.15541	T	0.07315782	0.16327	0.07371624	0.16050	0.05636282	0.11079	0.062819146	0.12350	-5.159	0.38522	T	0.054118530491180206	0.01132	0.117	0.36594	B	.;.;.	.;.;.	1.403559	0.18178	13.59	0.64446285757415955	0.07496	0.19403	0.20647	N	AEFBI	0.123592	0.23926	N	-1.22722874940791	0.04608	0.2083534	-1.10556182644923	0.07593	0.3699596	0.0540776125888672	0.14959	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.2	2.98	0.33575	1.260000	0.32571	4.169000	0.42261	-1.231000	0.01326	0.276000	0.25103	0.997000	0.33255	0.366000	0.26021	0.0:0.1713:0.0:0.8287	7.775	0.28197	354	0.85282	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.08333	541.83	57	chr17	8076313	.	C	A	541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.256;DP=243;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.869;SOR=0.503	GT:AD:DP:GQ:PL	0/1:36,21:57:99:552,0,994	5	0	1	0
chr17	8888177	8888177	T	C	exonic	PIK3R5	.	nonsynonymous SNV	PIK3R5:NM_001251852:exon9:c.A452G:p.N151S,PIK3R5:NM_001251853:exon9:c.A452G:p.N151S,PIK3R5:NM_001251855:exon9:c.A452G:p.N151S,PIK3R5:NM_001142633:exon10:c.A1610G:p.N537S,PIK3R5:NM_001251851:exon10:c.A452G:p.N151S,PIK3R5:NM_014308:exon10:c.A1610G:p.N537S	Ataxia-oculomotor apraxia 3, Autosomal recessive	424	1051	44	3	0	50	0.0232342	.	.	.	715870	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.206	.	0.0008	0.00499201	0.0041	9.829e-05	0.0006	0	0	0.0011	0.0056	0.0244	0.0034864	539	154602	rs141354792	0.0021	0.0021	0.0013	0.0029	0.0248	0.0021	0.0020	0.0240	0.0236	2.987e-05	0.0008	0.0033	0	3.793e-05	0.0085	0.0006	0.0025	0.0248	0.0014	0.0014	0.0011	0.0017	0.0233	0.0012	0.0012	0.0198	0.0185	7.223e-05	0	0.0010	0.0014	0	0	0.0170	0.0009	0.0043	0.0233	0.757	0.03512	T	0.66	0.08025	T	0.008	0.14655	B	0.014	0.16862	B	0.001828	0.37892	N	0.336110	0.719223	0.29938	N	1.48	0.37141	L	-1.23	0.78860	T	-0.34	0.12661	N	0.137	0.13769	-0.8843	0.49415	T	0.128	0.43666	T	10	0.011410058	0.00249	T	.	.	.	0.206	0.49396	.	.	0.457489361034	0.45375	0.3056649105751712	0.30479	0.379746466743	0.39358	0.264593482018	0.05451	T	0.161401	0.50565	T	-0.478229	0.00758	T	-0.441466	0.28644	T	0.0209420530323681	0.00795	T	0.813419	0.61484	T	0.06834999	0.14883	0.06895789	0.14468	0.07208568	0.16008	0.056036726	0.09939	-2.749	0.07724	T	0.14441162739449145	0.16495	0.079	0.20508	B	.;.;.;.;.;.	.;.;.;.;.;.	1.821389	0.23148	15.90	0.94299559294408519	0.24609	0.89942	0.50743	D	AEFDBI	0.313915	0.41893	N	-0.391004030368227	0.25789	1.402542	-0.175773257198732	0.32430	1.844936	0.109216815697869	0.16602	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	1.446000	0.34701	6.107000	0.53619	-0.113000	0.14837	0.997000	0.40164	1.000000	0.68203	0.201000	0.21925	0.0:0.0:0.0:1.0	15.586	0.76229	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	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	0.009567	0.000000	0.005435	0.002924	0.000000	0.034483	0.012195	0.022727	0.08333	1095.83	83	chr17	8888177	.	T	C	1095.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.517;SOR=0.736	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1106,0,841	5	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007549	0.000000	0.004121	0.013043	0.000000	0.017544	0.003546	0.016260	0.08333	1712.83	187	chr17	15738743	.	G	T	1712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=374;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.083;MQ=47.58;MQRankSum=-5.113;QD=9.16;ReadPosRankSum=-0.969;SOR=0.615	GT:AD:DP:GQ:PL	0/1:115,72:187:99:1723,0,2750	5	0	1	0
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	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	0.025524	0.000000	0.019231	0.048193	0.000000	0.037037	0.033333	0.021930	0.08333	597.83	44	chr17	16772639	.	C	T	597.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.35;MQRankSum=-0.871;QD=13.59;ReadPosRankSum=-0.652;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,25:44:99:608,0,393	5	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S,TRIM16L:NM_001353225:exon2:c.G100A:p.G34S,TRIM16L:NM_001353224:exon3:c.G100A:p.G34S,TRIM16L:NM_001353221:exon5:c.G406A:p.G136S,TRIM16L:NM_001353219:exon6:c.G262A:p.G88S,TRIM16L:NM_001353222:exon7:c.G100A:p.G34S,TRIM16L:NM_001353220:exon8:c.G100A:p.G34S,TRIM16L:NM_001353223:exon8:c.G100A:p.G34S	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010776	0.000000	0.013624	0.012500	0.000000	0.017241	0.012821	0.000000	0.08333	2531.83	226	chr17	18727657	.	G	A	2531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=401;ExcessHet=0;FS=3.74;MLEAC=1;MLEAF=0.083;MQ=55.36;MQRankSum=-1.316;QD=11.2;ReadPosRankSum=-1.257;SOR=0.711	GT:AD:DP:GQ:PL	0/1:124,102:226:99:2542,0,3223	5	0	1	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M,FBXW10:NM_001267586:exon9:c.G1672A:p.V558M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004284	0.000000	0.005495	0.004464	0.000000	0.008929	0.003968	0.000000	0.08333	1907.83	105	chr17	18766830	.	G	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=276;ExcessHet=0;FS=5.386;MLEAC=1;MLEAF=0.083;MQ=45.43;MQRankSum=-1.952;QD=18.17;ReadPosRankSum=1.65;SOR=0.313	GT:AD:DP:GQ:PL	0/1:43,62:105:99:1918,0,1189	5	0	1	0
chr17	19826154	19826154	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon11:c.G820A:p.G274S,ULK2:NM_014683:exon11:c.G820A:p.G274S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00523944444534	.	.	2.476e-05	0	8.642e-05	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs777857655	3.043e-06	1.163e-05	4.519e-06	1.536e-06	3.006e-05	7.1e-07	4.8e-07	7.8e-07	2.2e-07	0	3.006e-05	0	0	0	0	2.911e-06	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.035294	0.24662	N	0.427833	0.999657	0.20771	N	-0.345	0.03330	N	1.86	0.24285	T	1.29	0.00961	N	0.039	0.01274	-1.0403	0.17223	T	0.024	0.10013	T	10	0.034044296	0.01599	T	0.005239	0.13371	T	0.090	0.26093	0.3	0.26683	0.429320821379	0.42548	0.1979296048404415	0.19709	0.129854084997	0.14643	0.50564789772	0.39614	T	0.064615	0.32480	T	-0.371096	0.03539	T	-0.643051	0.09449	T	0.101700305938721	0.12543	T	0.536146	0.17993	T	0.25566798	0.48603	0.17895454	0.40598	0.25566798	0.48602	0.17895454	0.40598	-0.515	0.00592	T	0.03587338635800552	0.00205	0.072	0.04396	B	.;.	.;.	1.777914	0.22607	15.69	0.76907118812831432	0.11658	0.82901	0.42068	D	AEFDI	0.174120	0.30124	N	-0.488200876441356	0.22467	1.199857	-0.216616223631892	0.30939	1.746458	0.00370205122068494	0.10244	0.651	0.46895	0	0.588015	0.36545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.33	5.33	0.75683	0.774000	0.26337	1.694000	0.28089	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1655:0.8345:0.0:0.0	13.595	0.61451	502	0.75873	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	439.83	47	chr17	19826154	.	C	T	439.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.075;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.321;SOR=0.859	GT:AD:DP:GQ:PL	0/1:26,21:47:99:450,0,602	5	0	1	0
chr17	28400676	28400676	T	C	exonic	SLC46A1	.	nonsynonymous SNV	SLC46A1:NM_001242366:exon3:c.A1172G:p.N391S,SLC46A1:NM_080669:exon4:c.A1256G:p.N419S	Folate malabsorption, hereditary, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1335425	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.0153387747541	.	0.000399361	5.923e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs141992236	4.106e-05	4.104e-05	3.813e-05	4.403e-05	0.0013	3.246e-05	2.921e-05	0.0010	0.0008	0.0013	8.956e-05	0	0	0	0	1.799e-06	0.0002	0	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	0	0.0009	0	.	.	.	0.161	0.32568	T	0.323	0.33082	B	0.07	0.27859	B	0.000303	0.45977	D	0.272597	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.286	0.32921	-0.7054	0.60178	T	0.244	0.61260	T	9	0.050952762	0.04904	T	0.015339	0.36015	T	.	.	.	.	0.327952845175	0.32413	0.20926224354443512	0.20842	.	.	0.570219874382	0.48709	T	0.239973	0.60820	T	-0.464861	0.00916	T	-0.48105	0.24336	T	0.101941809058189	0.12569	T	0.933007	0.74900	D	0.061097395	0.12615	0.100340396	0.23989	0.06732459	0.14569	0.106733985	0.25683	-1.607	0.01998	T	0.07602946007041217	0.03438	0.065	0.03336	B	.;.	.;.	2.482169	0.32012	18.91	0.98935502663203589	0.48826	0.96369	0.68801	D	AEFBI	0.607087	0.59718	D	-0.0282701067115175	0.40579	2.412183	0.133738022145887	0.46285	2.877032	0.988628086067373	0.31576	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	4.795000	0.62183	3.516000	0.38871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.1427:0.8573	12.158	0.53390	131	0.94738	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	.	.	.	.	.	.	.	.	0.08333	1342.83	106	chr17	28400676	.	T	C	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=277;ExcessHet=0;FS=1.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.218;SOR=0.518	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1353,0,1497	5	0	1	0
chr17	28704048	28704048	G	A	exonic	PROCA1	.	nonsynonymous SNV	PROCA1:NM_001304951:exon2:c.C173T:p.T58I,PROCA1:NM_001304954:exon4:c.C305T:p.T102I,PROCA1:NM_001366302:exon4:c.C443T:p.T148I,PROCA1:NM_152465:exon4:c.C521T:p.T174I,PROCA1:NM_001304949:exon5:c.C494T:p.T165I,PROCA1:NM_001304952:exon5:c.C527T:p.T176I,PROCA1:NM_001304953:exon5:c.C305T:p.T102I,PROCA1:NM_001366301:exon5:c.C605T:p.T202I,PROCA1:NM_001366303:exon5:c.C305T:p.T102I	.	401	1116	3	2	0	7	0.0031264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0025	0.00339457	0.0008	0.0084	0.0003	0.0001	0	6.661e-05	0	6.612e-05	0.000815	126	154602	rs140256102	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0007	3.844e-05	0.0003	0	0.0017	5.311e-05	0.0011	2.34e-05	0.0022	0.0022	0.0024	0.0020	0.0073	0.0020	0.0019	0.0066	0.0063	0.0073	0	0.0014	0	0	0	0	0.0001	0.0019	0	0.192	0.20988	T	0.039	0.51112	D	0.4	0.34852	B	0.121	0.32300	B	0.419074	0.12895	N	0.537726	1	0.08975	N	0.345	0.11182	N	3.5	0.05014	T	-1.88	0.43906	N	0.021	0.00825	-0.9367	0.43134	T	0.005	0.01688	T	10	0.0059212446	0.00133	T	.	.	.	0.016	0.02506	.	.	0.0611884634855	0.05136	0.027533530885249194	0.02703	0.0900235829722	0.10153	0.312320262194	0.12257	T	0.049927	0.28448	T	-0.68693	0.00044	T	-0.755778	0.03266	T	0.00171878560036455	0.00018	T	0.431557	0.11736	T	0.030074788	0.02610	0.029634906	0.01324	0.030074788	0.02609	0.029634906	0.01323	-4.342	0.29271	T	.	.	0.119	0.24363	B	.;.	.;.	-0.615820	0.01529	0.098	0.58392856001079052	0.05983	0.04215	0.09729	N	AEFDBCI	0.038497	0.05457	N	-1.09158100503117	0.06797	0.3139432	-1.1333811436506	0.07070	0.3425452	0.0768569011827701	0.15741	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	4.28	0.865	0.18211	-0.913000	0.04150	-0.417000	0.09309	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4158:0.0:0.5842:0.0	5.826	0.17810	152	0.94023	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.010309	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1121.83	69	chr17	28704048	.	G	A	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=251;ExcessHet=0;FS=4.866;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.006;SOR=1.329	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1132,0,959	5	0	1	0
chr17	28725539	28725539	T	A	exonic	TLCD1	.	nonsynonymous SNV	TLCD1:NM_001160407:exon2:c.A78T:p.L26F,TLCD1:NM_138463:exon2:c.A219T:p.L73F	.	425	1091	3	3	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	0.0025	0.00379393	0.0008	0.0081	0.0003	0	0	5.996e-05	0	6.057e-05	0.0008473	131	154602	rs116638249	0.0003	0.0003	0.0004	0.0003	0.0089	0.0003	0.0003	0.0081	0.0077	0.0089	0.0008	3.826e-05	0	0	0.0017	5.306e-05	0.0010	2.319e-05	0.0023	0.0023	0.0025	0.0021	0.0076	0.0021	0.0020	0.0069	0.0066	0.0076	0	0.0014	0	0	0	0	0.0001	0.0019	0	0.133	0.44694	T	0.0	0.92824	D	0.959	0.55135	D	0.789	0.57669	P	0.004109	0.34102	N	0.250233	0.999303	0.46608	D	2.045	0.56016	M	-1.9	0.84628	D	-1.85	0.43334	N	0.382	0.42345	-0.3500	0.73554	T	0.345	0.71027	T	10	0.009147465	0.00207	T	.	.	.	0.397	0.71163	0.407	0.44066	0.7069100462	0.70435	0.5059548018674515	0.50517	1.18640881155	0.80156	0.666369318962	0.62320	T	0.356226	0.72310	T	-0.331783	0.05977	T	-0.244934	0.50315	T	0.0553350889450735	0.06413	T	0.782222	0.41780	T	0.08538631	0.19803	0.124743305	0.30065	0.08538631	0.19803	0.124743305	0.30064	-5.767	0.44286	T	.	.	0.190	0.46619	B	.;.;.	.;.;.	2.343780	0.30040	18.31	0.99752460710402524	0.84382	0.39434	0.26212	N	ALL	0.090431	0.18324	N	-0.197106137034458	0.33254	1.884554	-0.224712057027014	0.30652	1.727765	0.999999999999983	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.0	1.92	0.24912	-0.033000	0.12196	1.078000	0.23865	-0.198000	0.09030	0.809000	0.29839	1.000000	0.68203	0.719000	0.34739	0.3268:0.5057:0.0:0.1675	4.543	0.11466	128	0.94857	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1647.83	150	chr17	28725539	.	T	A	1647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=335;ExcessHet=0;FS=0.659;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.86;SOR=0.798	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1658,0,2104	5	0	1	0
chr17	36166485	36166485	C	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.G1160A:p.R387K,TBC1D3B:NM_001001417:exon14:c.G1160A:p.R387K,TBC1D3H:NM_001123392:exon14:c.G1160A:p.R387K,TBC1D3L:NM_001291459:exon14:c.G1160A:p.R387K,TBC1D3G:NM_001291462:exon14:c.G1160A:p.R387K,TBC1D3I:NM_001291463:exon14:c.G1160A:p.R387K,TBC1D3D:NM_001291465:exon14:c.G1160A:p.R387K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00175383230582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-06	7.523e-06	3.34e-06	0	0.0005	0	0	.	.	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.14158	T	0.972	0.57405	D	0.542	0.48916	P	0.264020	0.15258	U	0.402618	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.068	0.04072	-1.0000	0.29917	T	0.023	0.09832	T	8	0.102874756	0.18881	T	0.001754	0.02960	T	.	.	0.213	0.13210	0.043077524339	0.03247	0.04549013356333532	0.04493	.	.	0.475326269865	0.35414	T	0.019771	0.15688	T	-0.323011	0.06654	T	-0.701759	0.05730	T	0.577296674251556	0.35514	D	0.668433	0.27736	T	0.14689998	0.33607	0.108163156	0.26050	0.14689998	0.33607	0.108163156	0.26049	-4.86	0.35282	T	.	.	0.138	0.30076	B	.	.	1.412600	0.18282	13.65	0.98088977472134453	0.38173	0.00061	0.00447	N	AEFI	0.029876	0.02899	N	-0.719623432021793	0.15470	0.7799423	-0.967677324980145	0.10516	0.5301303	1.66719675724052E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.316000	0.08112	-0.269000	0.10363	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	.	.	.	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	35.82	2	chr17	36166485	.	C	T	35.82	.	AC=2;AF=0.2;AN=10;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=20;QD=17.91;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr17	36254444	36254444	C	T	exonic	TBC1D3D;TBC1D3H;TBC1D3I	.	nonsynonymous SNV	TBC1D3H:NM_001123392:exon14:c.G1160A:p.R387K,TBC1D3I:NM_001291463:exon14:c.G1160A:p.R387K,TBC1D3D:NM_001291465:exon14:c.G1160A:p.R387K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.278481213434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.369e-06	1.418e-06	1.441e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	0.21011	T	.	.	.	.	.	.	0.264020	0.15258	U	0.402618	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	-1.0263	0.21658	T	0.037	0.16029	T	9	0.07304028	0.10985	T	0.278481	0.90144	D	.	.	0.269	0.21735	0.0401082797425	0.02173	0.061582151946123966	0.06098	.	.	0.518529236317	0.41418	T	0.032115	0.22343	T	-0.275647	0.11136	T	-0.633724	0.10133	T	0.319480001926422	0.25801	T	.	.	.	0.100368835	0.23698	0.06742789	0.13947	0.100368835	0.23698	0.06742789	0.13946	-4.859	0.35271	T	.	.	0.136	0.29505	B	.	.	1.524379	0.19565	14.33	0.98773808194695767	0.46017	0.00327	0.01711	N	AEFI	0.048869	0.08385	N	-0.944747626065944	0.09811	0.4660021	-1.11503046002747	0.07412	0.3604598	1.11536234223363E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	0.118	0.13972	0.341000	0.19652	-0.286000	0.10231	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	73.84	21	chr17	36254444	.	C	T	73.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=22.41;MQRankSum=0.876;QD=3.52;ReadPosRankSum=1.16;SOR=0.117	GT:AD:DP:GQ:PL	0/1:16,5:21:84:84,0,334	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:26,50:76:99:791,0,344	0	0	6	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1617.41	219	chr17	41041286	.	G	*	1617.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=573;ExcessHet=0;FS=2.341;MLEAC=2;MLEAF=0.167;MQ=58.87;MQRankSum=-2.599;QD=3.81;ReadPosRankSum=0.255;SOR=0.981	GT:AD:DP:GQ:PL	1/0:0,169:219:99:7799,1639,1618	4	0	2	0
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1576.02	218	chr17	41041341	.	G	*	1576.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.404;DP=560;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-2.528;QD=3.82;ReadPosRankSum=-2.339;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,169:218:99:0|1:41041341_G_*:8285,2043,1576:41041341	4	0	2	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1324.02	212	chr17	41041366	.	A	*	1324.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.226;DP=552;ExcessHet=0;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=58.84;MQRankSum=-2.611;QD=3.25;ReadPosRankSum=-2.651;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,169:212:99:0|1:41041341_G_*:8053,1804,1324:41041341	4	0	2	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	271.02	188	chr17	41041386	.	A	*	271.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.2;DP=507;ExcessHet=0;FS=3.079;MLEAC=2;MLEAF=0.167;MQ=58.73;MQRankSum=-2.308;QD=0.75;ReadPosRankSum=-2.295;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,170:188:99:0|1:41041341_G_*:7006,754,271:41041341	4	0	2	0
chr17	41105995	41105995	T	G	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.T607G:p.L203V,LOC100996750:NM_001365252:exon3:c.T592G:p.L198V	.	397	1113	12	0	0	12	0.00536193	.	.	.	2842410	EBV-positive_nodal_T-_and_NK-cell_lymphoma	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00317349395636	.	.	0.0001	0.0009	0	0	0	7.329e-05	0	0	.	.	.	rs760182369	0.0002	0.0032	0.0002	0.0003	0.0025	0.0002	0.0002	0.0021	0.0019	0.0004	0.0025	0.0007	0.0013	0.0002	0.0004	7.419e-05	0.0003	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.567	0.08900	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999996	0.08975	N	0.09	0.08384	N	6.51	0.00528	T	0.1	0.05810	N	0.011	0.04426	-1.0026	0.29168	T	0.001	0.00255	T	9	0.036321104	0.01924	T	0.003173	0.06936	T	0.017	0.02790	.	.	0.137902524267	0.13322	0.021938056620048867	0.02145	0.179632612273	0.20209	0.228239178658	0.01840	T	0.002186	0.01585	T	-0.558072	0.00261	T	-0.73486	0.04110	T	0.0296144627414207	0.01930	T	0.0146985	0.00081	T	0.037802603	0.04916	0.056161508	0.09985	0.037802603	0.04916	0.056161508	0.09985	-1.686	0.02193	T	.	.	0.067	0.03515	B	.;.	.;.	-0.646073	0.01451	0.088	0.59983368381782498	0.06354	0.01717	0.05443	N	AEFBI	0.023656	0.01350	N	-1.29860675217479	0.03693	0.1654153	-1.28154661051394	0.04679	0.2213134	1.76130031738835E-4	0.05786	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	2.64	-2.71	0.05633	-1.260000	0.02967	-11.436000	0.00605	-0.609000	0.04591	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.4686:0.0:0.3553:0.1761	3.722	0.07988	284	0.88763	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	253.83	248	chr17	41105995	.	T	G	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.589;DP=445;ExcessHet=0;FS=29.457;MLEAC=1;MLEAF=0.083;MQ=56.24;MQRankSum=-9.27;QD=1.02;ReadPosRankSum=-5.543;SOR=2.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,25:248:99:0|1:41105995_T_G:264,0,9210:41105995	5	0	1	0
chr17	42192285	42192287	CAC	-	exonic	GHDC	.	nonframeshift deletion	GHDC:NM_001142623:exon5:c.843_845del:p.W281del,GHDC:NM_032484:exon5:c.843_845del:p.W281del	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00199681	0.0019	0.0002	0.0009	0	0	0.0011	0.0026	0.0124	0.0002305	6	26028	rs368300587	0.0012	0.0012	0.0009	0.0015	0.0105	0.0011	0.0011	0.0084	0.0077	0.0001	0.0009	0.0022	0	1.945e-05	0.0105	0.0007	0.0016	0.0084	0.0009	0.0009	0.0009	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0006	0.0029	0	0	0.0034	0.0009	0.0019	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013171	0.000000	0.023161	0.005882	0.050000	0.034483	0.003067	0.000000	0.1667	2404.01	56	chr17	42192284	.	GCAC	G	2404.01	.	AC=2;AF=0.167;AN=12;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.06;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:42192284_GCAC_G:2424,168,0:42192284	5	1	0	0
chr17	42845116	42845116	C	T	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.C490T:p.R164C,AOC2:NM_009590:exon1:c.C490T:p.R164C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0168372654657	.	.	8.482e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs939933467	1.3e-05	1.3e-05	1.498e-05	1.1e-05	0.0002	8.32e-06	6.7e-06	1.583e-05	9.3e-06	0	2.236e-05	0	2.519e-05	0	0.0002	8.093e-06	4.968e-05	4.637e-05	1.971e-05	1.97e-05	2.569e-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	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.101271	0.19846	N	0.519881	0.999979	0.53665	D	2.595	0.75868	M	2.21	0.18414	T	-3.81	0.71882	D	0.443	0.48134	-1.0357	0.18637	T	0.114	0.40467	T	10	0.57538486	0.65550	D	0.016837	0.38283	T	0.300	0.62068	0.639	0.77579	0.516938183928	0.51336	0.8313122090989467	0.83090	0.216964245615	0.24212	0.395880162716	0.24495	T	0.405664	0.76178	T	-0.212776	0.18989	T	-0.374286	0.36388	T	0.930193722248077	0.59474	D	0.932607	0.75346	D	0.2496131	0.47957	0.19939345	0.43819	0.2496131	0.47957	0.19939345	0.43818	-8.598	0.65076	D	.	.	0.106	0.37083	B	.;.	.;.	3.728091	0.53317	23.3	0.99891215883796203	0.96513	0.69425	0.34182	D	AEFDBHCI	0.250502	0.37054	N	0.271045770976983	0.54687	3.633696	0.153396055966815	0.47321	2.964194	0.985426399972839	0.30885	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.6	4.63	0.57175	0.946000	0.28667	1.670000	0.27950	0.599000	0.40250	0.989000	0.36753	0.357000	0.24501	0.182000	0.21359	0.0:0.9284:0.0:0.0716	14.284	0.65787	262	0.89730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.1667	4233.04	124	chr17	42845116	.	C	T	4233.04	.	AC=2;AF=0.167;AN=12;DP=302;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.14;SOR=0.902	GT:AD:DP:GQ:PL	1/1:0,124:124:99:4253,372,0	5	1	0	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	465.72	53	chr17	43209576	.	C	T	465.72	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.884;DP=198;ExcessHet=0.6695;FS=147.175;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=0.531;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,20:53:99:0|1:43209576_C_T:294,0,815:43209576	2	0	2	2
chr17	50541243	50541243	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon8:c.T1264C:p.F422L	.	416	1101	4	1	0	6	0.00271739	.	.	.	2398096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.0141825201783	.	0.000199681	6.59e-05	0	0	0	0	7.493e-05	0.0011	0.0001	6.47e-05	10	154602	rs193150553	0.0001	0.0001	0.0001	0.0001	0.0151	0.0001	0.0001	0.0125	0.0116	8.961e-05	0	0	0	0	0.0151	5.306e-05	0.0003	0.0001	7.225e-05	7.218e-05	3.856e-05	0.0001	4.411e-05	3.97e-05	3.126e-05	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0204	4.411e-05	0.0005	0	0.059	0.37536	T	0.228	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.814410	0.09226	N	0.865719	1	0.81001	D	1.89	0.50145	L	0.24	0.59583	T	-2.9	0.60827	D	0.289	0.32701	-0.9465	0.41566	T	0.176	0.51990	T	10	0.15172276	0.28672	T	0.014183	0.34122	T	0.140	0.37593	.	.	0.862625972627	0.86129	0.24191483975762648	0.24105	0.191962338757	0.21522	0.471148610115	0.34839	T	0.239268	0.60735	T	-0.25405	0.13607	T	-0.400048	0.33380	T	0.0395641922950745	0.03612	T	0.60194	0.22516	T	0.19060323	0.40653	0.176594	0.40204	0.19060323	0.40653	0.176594	0.40204	-4.323	0.28498	T	.	.	0.517	0.65350	A	.	.	3.153646	0.42703	21.6	0.988751782024193	0.47719	0.10979	0.16325	N	AEFDGBCI	0.114711	0.22583	N	-0.37879253561079	0.26227	1.429715	-0.302100713721761	0.28031	1.559737	0.999999677528642	0.74766	0.676563	0.55306	0	0.475579	0.06741	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.76	4.76	0.60189	2.383000	0.44008	6.019000	0.52765	0.651000	0.53179	0.920000	0.31959	1.000000	0.68203	0.656000	0.32857	0.0:0.0884:0.0:0.9116	8.444	0.31990	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.015152	0.013587	0.017544	0.000000	0.025862	0.003049	0.003788	0.1667	4635.04	146	chr17	50541243	.	T	C	4635.04	.	AC=2;AF=0.167;AN=12;DP=356;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.75;SOR=1.186	GT:AD:DP:GQ:PL	1/1:0,146:146:99:4655,437,0	5	1	0	0
chr17	58193064	58193064	G	A	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon2:c.G103A:p.V35I	.	0	1521	1	0	0	1	0.000328623	.	.	.	727309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.160	.	0.0035	0.00559105	0.0014	0.0149	0.0009	0	0	2.998e-05	0.0022	0	0.0014165	219	154602	rs34553736	0.0004	0.0004	0.0005	0.0004	0.0144	0.0004	0.0004	0.0134	0.0129	0.0144	0.0012	0	0	0	0.0014	2.7e-05	0.0010	2.319e-05	0.0042	0.0043	0.0045	0.0040	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0018	0	0	0	0	2.941e-05	0.0019	0	0.593	0.05755	T	0.445	0.13140	T	0.038	0.21002	B	0.028	0.21332	B	0.005922	0.32398	N	0.270424	0.999999	0.08975	N	2.6	0.76081	M	-0.52	0.70717	T	0.0	0.07008	N	0.123	0.11483	-0.9029	0.47684	T	0.167	0.50632	T	10	0.006103128	0.00137	T	.	.	.	0.160	0.41473	.	.	0.564798353577	0.56142	0.17792938064800043	0.17711	0.0995797824663	0.11238	0.413764446974	0.26977	T	0.250352	0.62044	T	-0.532132	0.00373	T	-0.524174	0.19872	T	0.0267989664934107	0.01516	T	0.49985	0.15613	T	0.031234141	0.02925	0.041282546	0.04657	0.033501204	0.03582	0.050299145	0.07864	-4.748	0.33979	T	.	.	0.077	0.06571	B	.	.	1.423896	0.18411	13.72	0.96539390684376492	0.30183	0.19916	0.20845	N	AEFDBI	0.087575	0.17757	N	-0.437832692772024	0.24155	1.30225	-0.393477813368936	0.25190	1.383843	0.0403374814677757	0.14435	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	2.208000	0.42436	3.155000	0.36543	-0.117000	0.14459	0.076000	0.22236	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	14.496	0.67272	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1356.83	86	chr17	58193064	.	G	A	1356.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.12;DP=260;ExcessHet=0;FS=4.292;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.213;SOR=1.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,48:86:99:0|1:58193064_G_A:1367,0,1324:58193064	5	0	1	0
chr17	60043829	60043829	T	C	exonic	HEATR6	.	nonsynonymous SNV	HEATR6:NM_022070:exon20:c.A3280G:p.T1094A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0129848162425	0.0003	0.000798722	0.0002	0.0024	0	0	0	0	0.0011	0	0.000194	30	154602	rs75491486	6.909e-05	6.909e-05	7.487e-05	6.325e-05	0.0025	5.779e-05	5.391e-05	0.0021	0.0019	0.0025	0	0	0	0	0.0005	4.496e-06	0.0001	2.319e-05	0.0006	0.0006	0.0007	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0	0	0	0	0	0	0.0009	0	0.282	0.15406	T	0.053	0.47581	T	0.001	0.07471	B	0.001	0.04355	B	0.000403	0.44736	N	0.231906	1	0.08975	N	1.345	0.33447	L	0.01	0.62459	T	-0.13	0.08971	N	0.061	0.08786	-1.0485	0.14818	T	0.109	0.39415	T	10	0.029471815	0.01073	T	0.012985	0.32017	T	0.066	0.19193	.	.	0.372446077551	0.36852	0.09104773142450638	0.09037	0.122807379504	0.13838	0.293182790279	0.09387	T	0.015295	0.12856	T	-0.529143	0.00388	T	-0.538092	0.18484	T	0.010306998031235	0.00140	T	0.594141	0.21965	T	0.024066893	0.01203	0.02626642	0.00707	0.024066893	0.01203	0.02626642	0.00707	-3.61	0.18002	T	.	.	0.071	0.17402	B	.;.;.	.;.;.	0.388816	0.07604	4.265	0.73304518002819441	0.10280	0.41622	0.26698	N	AEFBI	0.114164	0.22497	N	-0.9202085993284	0.10370	0.4952169	-0.92199835690562	0.11575	0.5905472	7.46138893515814E-5	0.04552	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	0.787	0.17740	0.793000	0.26604	0.075000	0.14313	0.663000	0.56723	0.444000	0.26519	0.456000	0.24978	0.044000	0.14658	0.1374:0.1862:0.0:0.6764	4.721	0.12298	164	0.93620	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1809.83	107	chr17	60043829	.	T	C	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=275;ExcessHet=0;FS=9.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=1.76;SOR=1.268	GT:AD:DP:GQ:PL	0/1:45,62:107:99:1820,0,1231	5	0	1	0
chr17	61590829	61590830	CC	-	exonic	NACA2	.	frameshift deletion	NACA2:NM_199290:exon1:c.351_352del:p.D118Cfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2635.79	129	chr17	61590828	.	TCC	T	2635.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=501;ExcessHet=0;FS=3.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=0.8;SOR=0.441	GT:AD:DP:GQ:PL	0/1:61,68:129:99:2646,0,2316	5	0	1	0
chr17	63497281	63497281	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon12:c.G1451A:p.R484Q,ACE:NM_001178057:exon13:c.G1991A:p.R664Q,ACE:NM_152830:exon14:c.G2114A:p.R705Q,ACE:NM_001382700:exon22:c.G3269A:p.R1090Q,ACE:NM_001382701:exon23:c.G2984A:p.R995Q,ACE:NM_000789:exon25:c.G3836A:p.R1279Q	Renal tubular dysgenesis, Autosomal recessive	6	1496	20	0	0	20	0.00664011	.	.	.	256313	not_provided|not_specified|Renal_tubular_dysgenesis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0045	0.00359425	0.0057	0.0065	0	0	0.0205	0.0098	0	0.0026	0.0028654	443	154602	rs4980	0.0053	0.0052	0.0053	0.0052	0.0098	0.0052	0.0051	0.0076	0.0068	0.0027	0.0027	0.0008	0	0.0075	0.0098	0.0059	0.0048	0.0022	0.0053	0.0053	0.0053	0.0053	0.0070	0.0050	0.0049	0.0065	0.0063	0.0034	0.0110	0.0048	0.0014	0	0.0072	0.0068	0.0070	0.0052	0.0017	0.083	0.38185	T	0.019	0.59159	D	0.016	0.26429	B	0.002	0.20255	B	0.092294	0.20282	N	0.443891	0.999982	0.25316	N	2.025	0.55430	M	1.27	0.36146	T	-1.38	0.34198	N	0.098	0.17002	-0.9973	0.30673	T	0.059	0.24834	T	10	0.0066785812	0.00151	T	.	.	.	0.051	0.14325	.	.	0.737742724758	0.73540	0.4545690405717535	0.45374	0.107918556532	0.12170	0.437173753977	0.30191	T	0.26096	0.63239	T	-0.471471	0.00832	T	-0.445446	0.28201	T	0.0104603006814307	0.00144	T	0.825917	0.48908	T	0.06927776	0.15163	0.061592437	0.11920	0.0842022	0.19478	0.05142245	0.08271	-5.619	0.42965	T	0.1480238407004571	0.17202	0.109	0.25946	B	.;.;.	.;.;.	2.988242	0.39887	21.1	0.9981584536576239	0.89885	0.36046	0.25443	N	AEFBCI	0.129733	0.24802	N	-0.205389494547449	0.32913	1.861396	-0.138043727829586	0.33871	1.942191	0.00353837507232813	0.10164	0.631515	0.41029	0	0.547309	0.14657	0	0.645312	0.48771	0	0.741806	0.99463	0	.	.	5.0	1.38	0.21262	2.237000	0.42709	4.371000	0.43149	0.674000	0.70861	0.079000	0.22314	0.996000	0.32793	0.995000	0.73285	0.3618:0.0:0.4692:0.169	3.971	0.08946	939	0.14249	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007669	0.000000	0.002740	0.011834	0.000000	0.008929	0.018634	0.011364	0.08333	640.83	57	chr17	63497281	.	G	A	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.23;DP=242;ExcessHet=0;FS=5.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.935;SOR=1.524	GT:AD:DP:GQ:PL	0/1:35,22:57:99:651,0,957	5	0	1	0
chr17	63533901	63533901	G	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon5:c.G691A:p.A231T,KCNH6:NM_001278920:exon5:c.G322A:p.A108T,KCNH6:NM_030779:exon5:c.G691A:p.A231T,KCNH6:NM_173092:exon5:c.G691A:p.A231T	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.230422214839	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0002	0.0022	0.0002	0.000207	32	154602	rs138130730	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	5.975e-05	8.95e-05	0	0	0	0.0017	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0002	0.0002	9.742e-05	8.257e-05	0.0002	0.0001	0	0	0.0002	0	0	9.414e-05	0	0.0002	0	0.0002	0.024	0.52492	D	0.04	0.50809	D	0.987	0.67487	D	0.66	0.63802	P	0.000007	0.62929	D	0.062977	1	0.81001	D	3.18	0.88827	M	-5.37	0.99036	D	-3.47	0.68298	D	0.832	0.84401	1.090	0.99226	D	0.967	0.98941	D	10	0.7135248	0.73197	D	0.230422	0.88229	D	0.693	0.88867	.	.	0.828213882217	0.82658	0.7254724862580912	0.72491	0.579807686353	0.53841	0.727591216564	0.71154	T	0.427429	0.77691	T	0.16939	0.71067	D	0.301733	0.88276	D	0.384715020656586	0.28364	T	0.942806	0.85427	D	0.3246521	0.55029	0.30176443	0.56209	0.3246521	0.55029	0.30176443	0.56208	-9.568	0.73124	D	.	.	0.591	0.68487	P	.;.;.;.;.	.;.;.;.;.	4.693635	0.75229	26.3	0.71631967723737144	0.09695	0.99694	0.98730	D	AEFDGBI	0.905059	0.85610	D	0.44766811111159	0.64071	4.653564	0.313246722910912	0.56318	3.794907	0.999999914047741	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.9	3.9	0.44240	9.992000	0.99232	11.682000	0.94235	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.0:1.0:0.0	16.419	0.83590	804	0.43891	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	1248.83	81	chr17	63533901	.	G	A	1248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.52;DP=264;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.765;SOR=0.851	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1259,0,962	5	0	1	0
chr17	63972380	63972380	G	A	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.C364T:p.R122C	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	1519	3	0	0	3	0.000986518	.	.	.	345423	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|Paramyotonia_congenita_of_Von_Eulenburg|Congenital_myasthenic_syndrome_16|Congenital_myopathy_22B,_severe_fetal|Congenital_myopathy_22A,_classic|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|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0957265,MedGen:C5830501,OMIM:620369|MONDO:MONDO:0957247,MedGen:C5830453,OMIM:620351|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.852	0.447953414556	.	0.000399361	6.711e-05	0	0	0	0	7.566e-05	0.0023	6.171e-05	6.47e-05	10	154602	rs150158100	7.252e-05	7.251e-05	7.624e-05	6.877e-05	0.0002	6.115e-05	5.7e-05	7.311e-05	6.722e-05	0	2.236e-05	0	0	0	0.0002	8.724e-05	3.313e-05	5.797e-05	5.91e-05	5.906e-05	2.57e-05	9.401e-05	0.0001	3.076e-05	2.209e-05	5.843e-05	4.24e-05	0	0	0	0	0	9.423e-05	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.91	0.64641	D	0.000353	0.45440	D	0.190420	0.999998	0.58761	D	3.17	0.88688	M	-4.28	0.97126	D	-5.17	0.83489	D	0.92	0.92317	1.054	0.98212	D	0.942	0.98109	D	10	0.9682631	0.96357	D	0.447953	0.94288	D	0.852	0.95433	.	.	0.947777257196	0.94723	0.8282844956908092	0.82786	0.678422557014	0.59885	0.577218294144	0.49694	T	0.876698	0.97382	D	0.323743	0.84735	D	0.41894	0.92713	D	0.830595433712006	0.48576	D	0.90061	0.65471	D	0.38445655	0.59636	0.28344378	0.54337	0.61851066	0.73684	0.33415598	0.59243	-9.712	0.72170	D	0.6619485491797727	0.73558	0.3	0.52985	B	.	.	6.189757	0.94758	34	0.99910239866157713	0.97949	0.90619	0.51945	D	AEFGBCI	0.815902	0.73776	D	0.433816102648008	0.63292	4.560091	0.274029765580511	0.54028	3.569	0.999470477167808	0.39898	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	3.24	0.36257	5.721000	0.68126	3.845000	0.40060	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:0.5026:0.4974	10.365	0.43202	789	0.46346	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	2410.83	176	chr17	63972380	.	G	A	2410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.862;DP=379;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.098;SOR=0.568	GT:AD:DP:GQ:PL	0/1:88,88:176:99:2421,0,2273	5	0	1	0
chr17	68042979	68042979	C	T	exonic	KPNA2	.	nonsynonymous SNV	KPNA2:NM_001320611:exon6:c.C646T:p.P216S,KPNA2:NM_002266:exon6:c.C646T:p.P216S	.	434	1064	23	1	0	25	0.0116117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0019	0.00259585	0.0023	0.0004	0.0043	0	0	0.0028	0.0022	0.0021	0.002141	331	154602	rs11545988	0.0022	0.0022	0.0022	0.0022	0.0130	0.0021	0.0021	0.0106	0.0098	0.0005	0.0039	0.0020	0	0.0002	0.0130	0.0023	0.0031	0.0023	0.0021	0.0021	0.0023	0.0020	0.0065	0.0019	0.0019	0.0055	0.0051	0.0006	0	0.0065	0.0012	0	9.526e-05	0.0103	0.0025	0.0043	0.0025	0.004	0.65419	D	0.228	0.25286	T	0.996	0.68779	D	0.92	0.65550	D	0.000000	0.84330	U	0.000000	1	0.81001	D	-0.19	0.04217	N	1.55	0.29866	T	-2.06	0.47175	N	0.415	0.45520	-1.1045	0.03588	T	0.054	0.22808	T	10	0.00942713	0.00213	T	.	.	.	0.241	0.54641	.	.	0.438345833192	0.43453	0.4164503765042135	0.41561	0.656959821407	0.58672	0.709007382393	0.68450	T	0.079362	0.36112	T	-0.292736	0.09364	T	-0.195377	0.55084	T	0.0235959961521107	0.01094	T	0.919808	0.70989	D	0.73496777	0.80005	0.39247233	0.63991	0.73496777	0.80006	0.39247233	0.63991	-7.748	0.59341	D	.	.	0.152	0.33573	B	.;.	.;.	3.499576	0.48958	22.7	0.88555349850242404	0.18069	0.94828	0.62470	D	AEFBCI	0.791339	0.71996	D	0.122141449737088	0.47497	2.974612	0.161611478933004	0.47759	3.001474	0.999999999999885	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.74	4.74	0.59717	5.904000	0.69623	5.974000	0.52050	0.510000	0.23265	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	18.087	0.89390	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.008152	0.008772	0.000000	0.000000	0.000000	0.015152	0.08333	1359.83	108	chr17	68042979	.	C	T	1359.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=317;ExcessHet=0;FS=0.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.18;SOR=0.568	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1370,0,1298	5	0	1	0
chr17	74285146	74285146	G	A	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon3:c.G290A:p.R97Q,DNAI2:NM_001353167:exon3:c.G290A:p.R97Q,DNAI2:NM_023036:exon3:c.G290A:p.R97Q	Ciliary dyskinesia, primary, 9, with or without situs inversus	0	1518	4	0	0	4	0.00131579	.	.	.	684710	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.313	0.029677756313	.	.	0.0003	0	0	0.0007	0.0002	3.004e-05	0	0.0016	0.0002264	35	154602	rs775926673	0.0001	0.0001	5.581e-05	0.0002	0.0013	9.401e-05	8.883e-05	0.0011	0.0010	2.987e-05	0	0	0.0002	3.744e-05	0	2.878e-05	4.967e-05	0.0013	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0004	1.261e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0004	0.004	0.65419	D	0.01	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	2.39	0.15724	T	-3.58	0.69118	D	0.813	0.80964	-0.6818	0.61289	T	0.174	0.51753	T	10	0.3864728	0.54577	T	0.029678	0.52141	D	0.313	0.63482	0.602	0.73346	0.517983797298	0.51440	0.5633897103877089	0.56265	0.814850030614	0.66894	0.710577249527	0.68677	T	0.227304	0.60277	T	-0.219048	0.18123	T	-0.122802	0.61571	T	0.666693925857544	0.39191	D	0.989376	0.96919	D	0.65104985	0.75421	0.61686337	0.77693	0.6939333	0.77726	0.604507	0.77013	-10.198	0.75088	D	0.6659198076423409	0.74016	0.226	0.45738	B	.;.;.;.	.;.;.;.	5.758646	0.93419	33	0.99959695469995014	0.99994	0.82016	0.41311	D	AEFDBCI	0.877881	0.80279	D	0.922245121649265	0.92806	11.64016	0.852220379598325	0.93146	11.85277	0.999999999998725	0.74766	0.455138	0.09556	0	0.518115	0.08659	0	0.606884	0.38211	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	7.404000	0.79226	11.540000	0.93128	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.696	0.91562	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1893.83	133	chr17	74285146	.	G	A	1893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=305;ExcessHet=0;FS=1.367;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.016;SOR=0.826	GT:AD:DP:GQ:PL	0/1:63,70:133:99:1904,0,1460	5	0	1	0
chr17	75128851	75128851	C	T	exonic	ARMC7	.	nonsynonymous SNV	ARMC7:NM_024585:exon3:c.C410T:p.T137I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.041585668055	.	.	0.0001	0	0.0002	0	0	0.0002	0	6.103e-05	0.0001164	18	154602	rs199560912	8.764e-05	8.756e-05	8.311e-05	9.221e-05	0.0005	7.494e-05	7.041e-05	0.0001	7.541e-05	0	6.709e-05	0	0	1.916e-05	0.0005	9.353e-05	9.939e-05	0.0001	4.599e-05	4.596e-05	7.705e-05	1.345e-05	8.82e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	9.413e-05	0	8.82e-05	0	0	0.46	0.08736	T	0.478	0.11968	T	0.908	0.50127	P	0.521	0.48239	P	0.000002	0.62929	D	0.058820	1	0.81001	D	2.465	0.71551	M	0.84	0.47477	T	-1.41	0.34795	N	0.545	0.57177	-0.9054	0.47401	T	0.161	0.49631	T	10	0.60611016	0.67184	D	0.041586	0.60008	D	0.183	0.45592	0.433	0.48336	0.624520489576	0.62146	0.20957209181985956	0.20873	0.521094934995	0.49893	0.561733484268	0.47513	T	0.105341	0.41572	T	-0.158492	0.26992	T	-0.196139	0.55012	T	0.11540747383739	0.13976	T	0.659134	0.26825	T	0.070088185	0.15409	0.09403833	0.22242	0.070088185	0.15409	0.09403833	0.22241	-5.483	0.41709	T	.	.	0.196	0.41768	B	.	.	1.544616	0.19804	14.44	0.86678859750502213	0.16699	0.94320	0.60790	D	AEFDBHCI	0.568065	0.57340	D	0.131341338440722	0.47929	3.011867	0.0909122318460533	0.44090	2.697543	0.999999999797541	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.12	4.12	0.47504	3.301000	0.51549	0.530000	0.19240	-0.175000	0.10903	0.995000	0.38783	0.068000	0.22166	0.016000	0.10718	0.0:0.8623:0.1377:0.0	15.660	0.76929	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	.	.	.	.	.	.	.	.	0.08333	595.83	54	chr17	75128851	.	C	T	595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.146;DP=233;ExcessHet=0;FS=7.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.208;SOR=0.458	GT:AD:DP:GQ:PL	0/1:28,26:54:99:606,0,843	5	0	1	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2748.83	183	chr17	79735355	.	C	A	2748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=371;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.607;SOR=0.756	GT:AD:DP:GQ:PL	0/1:86,97:183:99:2759,0,2283	5	0	1	0
chr17	80332245	80332245	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon21:c.G3757C:p.A1253P	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0117628578135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036860484	1.228e-05	1.163e-05	9.978e-06	1.463e-05	0.0002	7.48e-06	6.11e-06	0.0001	8.118e-05	0	0.0002	0	0	0	0	6.488e-06	3.453e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.27	0.16038	T	0.166	0.30828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.85	0.24472	T	-0.84	0.22944	N	0.15	0.15328	-1.0121	0.26259	T	0.104	0.38316	T	8	0.10150948	0.18551	T	0.011763	0.29704	T	0.081	0.23632	.	.	0.315314060047	0.31143	.	.	0.506631361283	0.48860	0.256586104631	0.04492	T	0.009641	0.08763	T	-0.397178	0.02416	T	-0.500878	0.22257	T	0.0723895717349689	0.08983	T	0.480552	0.14510	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12465	B	.;.	.;.	1.263104	0.16614	12.65	0.52049632018868219	0.04675	0.22369	0.21723	N	AEFDGBI	0.253530	0.37301	N	-0.537632085535346	0.20873	1.103611	-0.739972394090344	0.15968	0.8425075	0.00408116933723264	0.10410	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	1.21	1.21	0.20240	-0.344000	0.07829	0.482000	0.18815	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.003000	0.05239	0.0:0.2329:0.7671:0.0	8.889	0.34585	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	0	0	.	.	.	.	.	.	.	.	0.08333	1752.83	114	chr17	80332245	.	G	C	1752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.795;DP=486;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.286;SOR=0.542	GT:AD:DP:GQ:PL	0/1:46,68:114:99:1763,0,1405	5	0	1	0
chr17	81940838	81940838	G	A	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.C904T:p.R302C	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0465145431233	.	0.000798722	0.0010	0	0	0	0	0.0019	0	0	0.0002781	43	154602	rs145256888	0.0014	0.0014	0.0015	0.0013	0.0016	0.0014	0.0014	0.0015	0.0015	9.691e-05	0.0014	0.0054	0.0001	6.444e-05	0.0005	0.0016	0.0014	0.0002	0.0010	0.0010	0.0010	0.0009	0.0020	0.0008	0.0008	0.0015	0.0013	0.0002	0	0.0020	0.0072	0.0004	0	0	0.0011	0.0019	0	0.037	0.43085	D	0.033	0.53072	D	1.0	0.90584	D	0.886	0.62898	P	0.000000	0.84330	D	0.053330	1	0.81001	D	2.64	0.77224	M	.	.	.	-0.59	0.17624	N	0.611	0.62781	-0.2735	0.75717	T	0.376	0.73423	T	9	0.01415509	0.00298	T	0.046515	0.62494	D	0.227	0.52620	.	.	0.152612264143	0.14878	0.7403572393625851	0.73980	.	.	0.571235537529	0.48853	T	0.005063	0.04495	T	0.0178318	0.54090	T	0.245574	0.85411	D	0.0408759495148814	0.03849	T	0.958804	0.84482	D	0.24471645	0.47424	0.21329533	0.45834	0.24471645	0.47423	0.21329533	0.45833	-3.753	0.20104	T	.	.	0.199	0.42229	B	.	.	5.659373	0.92865	33	0.99937428964575725	0.99661	0.97710	0.76577	D	AEFGBI	0.807517	0.73154	D	0.660007841967158	0.77018	6.59462	0.633613821315495	0.77394	6.671161	0.999999999838862	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.68	4.68	0.58319	6.333000	0.72893	11.284000	0.91844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.773	0.88409	.	.	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	.	.	.	.	.	.	.	.	0.08333	1322.83	137	chr17	81940838	.	G	A	1322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=1.16;SOR=0.65	GT:AD:DP:GQ:PL	0/1:83,54:137:99:1333,0,2211	5	0	1	0
chr17	82085510	82085510	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon23:c.C4094T:p.P1365L	.	1	1520	1	0	0	1	0.000328839	.	.	.	1444669	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00968734473483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902738984	8.316e-06	1.3e-05	6.88e-06	9.774e-06	0.0002	4.44e-06	3.5e-06	7.86e-06	2.94e-06	3.018e-05	4.742e-05	0	0	0	0.0002	5.436e-06	1.677e-05	1.195e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.337	0.12837	T	0.316	0.19362	T	0.001	0.07471	B	0.001	0.04355	B	0.996809	0.07939	U	1.001760	0.999313	0.21372	N	0.41	0.12415	N	3.12	0.08106	T	-1.23	0.31170	N	0.153	0.15749	-0.9143	0.46311	T	0.014	0.05608	T	10	0.05924189	0.07090	T	0.009687	0.25313	T	0.045	0.12272	0.469	0.54214	0.082315109003	0.07666	0.3070078756270675	0.30613	.	.	0.315712809563	0.12771	T	0.242566	0.61133	T	-0.376523	0.03276	T	-0.778626	0.02495	T	0.0467746466269936	0.04924	T	0.739826	0.35853	T	0.017507875	0.00278	0.029237296	0.01241	0.017507875	0.00278	0.029237296	0.01241	-3.616	0.18088	T	.	.	0.100	0.16973	B	.;.	.;.	0.343469	0.07169	3.755	0.58144070362596967	0.05927	0.16912	0.19605	N	AEFBCI	0.125712	0.24234	N	-1.12955423424477	0.06123	0.2810155	-1.21959545937049	0.05595	0.2670434	0.450006296157217	0.20531	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.55	-3.72	0.04125	0.050000	0.14004	1.565000	0.27381	0.672000	0.70159	0.000000	0.06391	0.920000	0.28304	0.002000	0.04165	0.3919:0.1079:0.2638:0.2364	1.011	0.01402	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.08333	935.83	61	chr17	82085510	.	G	A	935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.614;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,32:61:99:946,0,749	5	0	1	0
chr17	82587083	82587083	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.G1597A:p.A533T	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0658923583185	0.0002	0.000798722	0.0004	0.0002	8.666e-05	0.0017	0.0002	0.0003	0	0.0007	0.0004528	70	154602	rs148364834	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	9.041e-05	0.0002	3.89e-05	0.0015	0.0002	0.0011	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	0.0002	0	0.0004	0	0.0023	9.463e-05	0	0.0002	0.0005	0.0004	0.88	0.02544	T	0.917	0.02899	T	0.181	0.29111	B	0.011	0.15521	B	0.009087	0.30522	N	0.338971	0.966278	0.38520	D	0.46	0.12951	N	-3.2	0.93231	D	-0.24	0.10833	N	0.277	0.31365	-0.1305	0.79390	T	0.521	0.82124	D	10	0.013940066	0.00294	T	0.065892	0.69714	D	0.442	0.74518	.	.	0.968907293267	0.96856	0.27740223095715877	0.27653	0.0545434322568	0.06037	0.485513865948	0.36817	T	0.063997	0.32320	T	-0.0849661	0.38903	T	0.101811	0.77028	D	0.00976326052164641	0.00128	T	0.750125	0.37153	T	0.022776237	0.00965	0.047254138	0.06766	0.022776237	0.00965	0.047254138	0.06765	-3.709	0.19451	T	.	.	0.066	0.02091	B	.	.	2.323136	0.29754	18.22	0.63755245477631717	0.07308	0.98712	0.85893	D	AEFBI	0.671936	0.63851	D	-0.505003639389391	0.21917	1.166687	-0.409483449547961	0.24719	1.355196	0.982658292096952	0.30434	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.21	0.48984	5.655000	0.67652	5.143000	0.47720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0738:0.0:0.9262:0.0	13.68	0.61956	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1638.83	118	chr17	82587083	.	G	A	1638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=416;ExcessHet=0;FS=2.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.871;SOR=0.467	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1649,0,1484	5	0	1	0
chr18	10485718	10485718	G	A	exonic	APCDD1	.	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.G1031A:p.R344Q	Hypotrichosis 1	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00770162764219	.	.	3.321e-05	0	8.682e-05	0	0	4.519e-05	0	0	3.23e-05	5	154602	rs754691351	7.525e-05	7.524e-05	7.487e-05	7.563e-05	0.0031	6.382e-05	5.939e-05	0.0020	0.0017	2.987e-05	0.0001	0	2.519e-05	0	0.0031	7.374e-05	3.311e-05	1.159e-05	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.715e-05	1.129e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.365	0.11732	T	0.39	0.15506	T	0.003	0.11197	B	0.005	0.11217	B	0.078568	0.21035	N	0.493760	1	0.81001	D	1.59	0.40313	L	1.9	0.23486	T	-0.2	0.10136	N	0.336	0.37717	-1.0403	0.17223	T	0.028	0.11971	T	10	0.13209313	0.25140	T	0.007702	0.20431	T	0.015	0.02232	0.349	0.34598	0.17948927462	0.17512	0.2579605874646184	0.25710	0.342277123456	0.36164	0.264416664839	0.05429	T	0.022054	0.17072	T	-0.370105	0.03588	T	-0.572435	0.15228	T	0.047589689249195	0.05071	T	0.856014	0.54441	D	0.028003328	0.02073	0.039030403	0.03904	0.028003328	0.02073	0.039030403	0.03904	-6.287	0.48619	T	0.2035705135316725	0.27108	0.080	0.07697	B	.	.	2.760877	0.36214	20.2	0.99854900995416296	0.93368	0.67981	0.33631	D	AEFDBI	0.179350	0.30664	N	-0.562545185293103	0.20091	1.05664	-0.409932213824854	0.24706	1.354411	0.998349839506951	0.36796	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.77	0.555	0.16436	1.156000	0.31323	5.569000	0.48938	0.676000	0.76740	0.858000	0.30578	1.000000	0.68203	0.957000	0.51019	0.6069:0.0:0.3931:0.0	7.079	0.24400	865	0.32612	APCDD1 domain|APCDD1 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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1735.83	155	chr18	10485718	.	G	A	1735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.58;DP=340;ExcessHet=0;FS=0.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.929;SOR=0.769	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1746,0,2009	5	0	1	0
chr18	22200696	22200696	A	G	exonic	GATA6	.	nonsynonymous SNV	GATA6:NM_005257:exon7:c.A1661G:p.N554S	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0576369804182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.04643	T	0.95	0.02617	T	0.002	0.09854	B	0.001	0.04355	B	0.006655	0.31890	N	0.380726	0.765485	0.29493	N	-0.56	0.02328	N	-4.44	0.97515	D	-0.8	0.22078	N	0.045	0.06990	-0.2703	0.75803	T	0.524	0.82240	D	10	0.10022405	0.18238	T	0.057637	0.67035	D	0.299	0.61955	0.205	0.12076	0.672852936461	0.67008	0.11423656979175414	0.11351	.	.	0.416627347469	0.27373	T	0.315248	0.68687	T	-0.068617	0.41549	T	-0.33634	0.40758	T	0.215276792645454	0.21226	T	0.728227	0.34274	T	0.024131808	0.01215	0.02422599	0.00439	0.024131808	0.01215	0.02422599	0.00439	-0.892	0.00887	T	0.227093459302262	0.30698	0.061	0.01645	B	.;.	.;.	1.743582	0.22184	15.52	0.77750500033023773	0.12006	0.71000	0.34826	D	AEFDGBIJ	0.206465	0.33272	N	-0.735817083346902	0.15021	0.7533679	-0.510406996926226	0.21870	1.185181	0.999999817199528	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.91	3.52	0.39415	4.605000	0.60825	3.879000	0.40229	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.964000	0.52637	0.4404:0.3093:0.2504:0.0	2.249	0.03791	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	966.83	91	chr18	22200696	.	A	G	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.136;DP=265;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.175;SOR=0.598	GT:AD:DP:GQ:PL	0/1:48,43:91:99:977,0,1322	5	0	1	0
chr18	24155722	24155722	C	T	exonic	CABYR	.	nonsynonymous SNV	CABYR:NM_153768:exon3:c.C167T:p.T56M,CABYR:NM_012189:exon4:c.C221T:p.T74M,CABYR:NM_138644:exon4:c.C221T:p.T74M,CABYR:NM_153769:exon4:c.C221T:p.T74M,CABYR:NM_153770:exon4:c.C221T:p.T74M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0018	0.0251597	0.0112	0.0017	0.0006	0.1233	0.0021	0.0021	0.0061	0.0032	0.0098705	1526	154602	rs3786417	0.0061	0.0061	0.0063	0.0060	0.1280	0.0060	0.0060	0.1251	0.1239	0.0005	0.0007	0.0005	0.1280	0.0022	0.0011	0.0026	0.0095	0.0032	0.0064	0.0064	0.0062	0.0066	0.1230	0.0060	0.0059	0.1151	0.1119	0.0012	0	0.0015	0.0006	0.1230	0.0023	0	0.0029	0.0066	0.0046	0.152	0.39575	T	0.028	0.65728	D	0.145	0.36287	B	0.016	0.29098	B	0.232273	0.03526	N	1.513000	0.999999	0.08975	P	0.895	0.22405	L	0.88	0.47130	T	-1.0	0.26422	N	0.044	0.03613	-1.0917	0.05254	T	0.001	0.00318	T	9	0.0018589497	0.00025	T	.	.	.	0.072	0.21020	.	.	.	.	0.12378164559620358	0.12304	0.105695212514	0.11951	0.24882632494	0.03644	T	0.016341	0.13527	T	-0.622122	0.00107	T	-0.55929	0.16442	T	0.000725276635180775	0.00007	T	0.50185	0.16474	T	0.015566247	0.00146	0.033500448	0.02255	0.015566247	0.00145	0.033500448	0.02255	-4.154	0.32109	T	.	.	0.074	0.06571	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.697170	0.01327	0.073	0.76410457729974257	0.11457	0.01680	0.05366	N	AEFBI	0.045851	0.07545	N	-1.41705170204126	0.02489	0.1099707	-1.50599126314891	0.02297	0.1054479	0.100933930499245	0.16365	0.651	0.46895	0	0.610034	0.51514	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.78	-5.64	0.02269	-1.465000	0.02463	-8.318000	0.00990	-0.938000	0.02108	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1127:0.2413:0.2226:0.4234	1.892	0.03052	946	0.12043	.;.;.;.;.;.;.;.;.	.	.	.	.	rs3786417	Likely benign	0	0	0	0	0	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	0.006098	0.007576	0.08333	913.83	69	chr18	24155722	.	C	T	913.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.714;SOR=0.651	GT:AD:DP:GQ:PL	0/1:35,34:69:99:924,0,878	5	0	1	0
chr18	48040440	48040440	C	T	exonic	ZBTB7C	.	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G668A:p.R223Q,ZBTB7C:NM_001318841:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371286:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371288:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371285:exon5:c.G668A:p.R223Q,ZBTB7C:NM_001371287:exon5:c.G668A:p.R223Q,ZBTB7C:NM_001371284:exon6:c.G668A:p.R223Q,ZBTB7C:NM_001371291:exon6:c.G668A:p.R223Q,ZBTB7C:NM_001371290:exon9:c.G668A:p.R223Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00836491806707	0.0025	0.000599042	0.0019	0.0010	0.0022	0.0005	0.0009	0.0027	0.0023	7.386e-05	0.0019534	302	154602	rs148093158	0.0025	0.0025	0.0026	0.0025	0.0038	0.0025	0.0024	0.0033	0.0031	0.0005	0.0038	0.0004	0	0.0008	0.0003	0.0030	0.0022	0.0001	0.0018	0.0018	0.0018	0.0019	0.0033	0.0017	0.0016	0.0026	0.0023	0.0005	0	0.0033	0.0003	0.0002	0.0005	0	0.0027	0.0076	0.0002	0.016	0.51853	D	0.11	0.37310	T	0.994	0.66517	D	0.36	0.43183	B	0.013249	0.28902	N	0.359699	0.884789	0.35825	D	1.5	0.37844	L	2.72	0.11947	T	-0.44	0.14588	N	0.517	0.55453	-1.0506	0.14230	T	0.028	0.12103	T	10	0.01112625	0.00244	T	0.008365	0.22130	T	0.054	0.15330	.	.	0.117191471859	0.11215	0.3518830911885127	0.35102	0.49211329435	0.47871	0.65360724926	0.60499	T	0.008941	0.08170	T	-0.475209	0.00789	T	-0.458746	0.26736	T	0.0206844824164484	0.00768	T	0.934007	0.75281	D	0.18889338	0.40407	0.10203443	0.24444	0.18889338	0.40407	0.10203443	0.24443	-5.992	0.46213	T	.	.	0.285	0.55292	B	.;.;.;.	.;.;.;.	4.169641	0.62683	24.5	0.9990662998182438	0.97726	0.94326	0.60810	D	AEFDBI	0.760655	0.69861	D	0.325868938304828	0.57480	3.915452	0.417151843771471	0.62634	4.482034	0.999929125140356	0.46280	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	4.115000	0.57608	7.599000	0.61500	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.921:0.0:0.079	12.215	0.53711	902	0.24074	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1508.83	99	chr18	48040440	.	C	T	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.22;DP=283;ExcessHet=0;FS=13.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.542;SOR=0.477	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1519,0,1391	5	0	1	0
chr18	50274277	50274277	C	T	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204141:exon10:c.G905A:p.R302H,MBD1:NM_001204151:exon10:c.G986A:p.R329H,MBD1:NM_001323953:exon10:c.G479A:p.R160H,MBD1:NM_015845:exon10:c.G986A:p.R329H,MBD1:NM_015847:exon10:c.G908A:p.R303H,MBD1:NM_001204136:exon11:c.G1055A:p.R352H,MBD1:NM_001204139:exon11:c.G1055A:p.R352H,MBD1:NM_001204142:exon11:c.G1055A:p.R352H,MBD1:NM_001323950:exon11:c.G1052A:p.R351H,MBD1:NM_001323951:exon11:c.G1055A:p.R352H,MBD1:NM_015846:exon11:c.G1055A:p.R352H,MBD1:NM_001204137:exon12:c.G1130A:p.R377H,MBD1:NM_001204138:exon12:c.G1130A:p.R377H,MBD1:NM_001323942:exon12:c.G1130A:p.R377H,MBD1:NM_001323947:exon12:c.G1130A:p.R377H,MBD1:NM_001323949:exon12:c.G623A:p.R208H	.	.	.	.	.	.	.	.	.	.	.	4167503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	0.0386108250355	.	.	5.851e-05	9.958e-05	8.685e-05	0.0006	0	0	0	0	6.47e-05	10	154602	rs747759305	4.105e-05	4.104e-05	4.221e-05	3.989e-05	0.0002	3.245e-05	2.92e-05	6.51e-05	4.449e-05	0.0001	2.236e-05	0	0.0002	0	0.0002	4.137e-05	3.312e-05	0	3.284e-05	3.283e-05	5.137e-05	1.344e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.559	0.08483	T	0.241	0.24334	T	0.002	0.12183	B	0.002	0.06944	B	0.411946	0.12985	N	0.737333	1	0.81001	D	0.42	0.12520	N	-3.65	0.95179	D	-0.56	0.17624	N	0.114	0.10483	-0.7202	0.59453	T	0.554	0.83677	D	10	0.06674391	0.09198	T	0.038611	0.58323	D	0.252	0.56159	.	.	0.473641421861	0.46993	0.662757928377015	0.66212	0.607307371854	0.55543	0.366511851549	0.20331	T	0.056485	0.30300	T	-0.251714	0.13889	T	-0.307198	0.43958	T	0.0328876699275436	0.02452	T	0.881912	0.63503	D	0.029371884	0.02421	0.05058546	0.07968	0.029371884	0.02421	0.05058546	0.07967	-4.44	0.30096	T	.	.	0.066	0.03407	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.182493	0.15731	12.06	0.96738491814672167	0.30913	0.10941	0.16299	N	AEFDBCI	0.057870	0.10813	N	-0.910573592995146	0.10594	0.5069812	-0.867182662934636	0.12875	0.6648315	0.999861321794056	0.44398	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	-4.81	0.02948	-1.339000	0.02759	-0.004000	0.13159	0.599000	0.40250	0.000000	0.06391	0.527000	0.25341	1.000000	0.97212	0.1053:0.2863:0.0:0.6083	7.309	0.25637	891	0.26808	.;Zinc finger, CXXC-type|Zinc finger, CXXC-type;.;Zinc finger, CXXC-type|Zinc finger, CXXC-type;.;Zinc finger, CXXC-type|Zinc finger, CXXC-type;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	567.83	53	chr18	50274277	.	C	T	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=247;ExcessHet=0;FS=1.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1;SOR=0.99	GT:AD:DP:GQ:PL	0/1:31,22:53:99:578,0,754	5	0	1	0
chr18	57435846	57435846	G	A	exonic	ONECUT2	.	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.G130A:p.G44S	.	1291	225	4	1	1	7	0.0131579	.	.	.	2265759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	.	.	0.3974	0	.	0	0.5	0.3409	0.5	0.625	0.0004528	70	154602	rs201085296	0.0010	0.0008	0.0010	0.0011	0.0018	0.0010	0.0010	0.0013	0.0011	6.259e-05	0	0	0	0.0094	0	0.0010	0.0006	0.0018	0.0008	0.0008	0.0007	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0001	0	0	0.0033	0	0.0011	0.0010	0.0006	.	.	.	0.162	0.31225	T	0.038	0.21002	B	0.002	0.06944	B	.	.	.	.	0.959096	0.28455	N	0	0.06538	N	1.13	0.38556	T	.	.	.	0.08	0.05542	-1.0183	0.24269	T	0.036	0.15683	T	8	0.0028811693	0.00046	T	.	.	.	0.064	0.18567	0.243	0.17677	.	.	0.3972368777396268	0.39638	1.57708980324	0.88325	0.809312522411	0.83387	D	0.107444	0.41965	T	-0.170457	0.25165	T	-0.482626	0.24168	T	0.066915447950742	0.08211	T	0.515049	0.16594	T	0.10316941	0.24383	0.20769353	0.45039	0.10316941	0.24383	0.20769353	0.45038	-6.865	0.53041	T	.	.	0.113	0.22208	B	.	.	3.880461	0.56390	23.7	0.9925514753466258	0.57022	0.11144	0.16437	N	AEFDBHCI	0.066455	0.13014	N	-0.722254103779051	0.15396	0.7755955	-0.611756625095055	0.19191	1.028556	0.999962411211882	0.48965	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	1.93	1.93	0.24985	0.048000	0.13962	8.870000	0.78330	0.286000	0.18717	0.994000	0.38300	1.000000	0.68203	0.972000	0.54974	0.2139:0.0:0.7861:0.0	4.297	0.10350	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	1	0	0.002867	0.000000	0.004178	0.000000	0.000000	0.008929	0.000000	0.004065	0.1667	275.68	16	chr18	57435846	.	G	A	275.68	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.949;DP=35;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.915;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,12:16:50:282,0,50	2	0	1	3
chr18	58329012	58329012	C	T	exonic	NEDD4L	.	nonsynonymous SNV	NEDD4L:NM_001144966:exon9:c.C335T:p.S112L,NEDD4L:NM_001144970:exon9:c.C335T:p.S112L,NEDD4L:NM_001144964:exon10:c.C335T:p.S112L,NEDD4L:NM_001144965:exon10:c.C335T:p.S112L,NEDD4L:NM_001144967:exon10:c.C698T:p.S233L,NEDD4L:NM_001144968:exon10:c.C674T:p.S225L,NEDD4L:NM_001144969:exon10:c.C674T:p.S225L,NEDD4L:NM_001243960:exon10:c.C698T:p.S233L,NEDD4L:NM_015277:exon10:c.C698T:p.S233L,NEDD4L:NM_001144971:exon11:c.C335T:p.S112L	Periventricular nodular heterotopia 7, Autosomal dominant	426	1079	16	1	0	18	0.00827206	.	.	.	402844	not_provided|Periventricular_nodular_heterotopia_7|NEDD4L-related_disorder	MedGen:C3661900|MONDO:MONDO:0014966,MedGen:C4310669,OMIM:617201|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	0.0183812668764	0.0040	0.00119808	0.0041	0.0003	0.0012	0.0001	0.0057	0.0053	0.0090	0.0048	0.0040103	620	154602	rs202231187	0.0047	0.0047	0.0046	0.0048	0.0101	0.0046	0.0046	0.0080	0.0072	0.0008	0.0013	0.0081	5.038e-05	0.0052	0.0101	0.0050	0.0049	0.0047	0.0035	0.0035	0.0036	0.0034	0.0053	0.0033	0.0032	0.0049	0.0047	0.0005	0.0220	0.0008	0.0081	0	0.0057	0.0136	0.0053	0.0033	0.0041	0.107	0.50676	T	0.301	0.45318	T	0.41	0.40644	B	0.055	0.34065	B	0.000148	0.49130	D	0.173086	0.999784	0.81001	D	1.24	0.30952	L	1.37	0.46412	T	-2.26	0.55025	N	0.567	0.60410	-1.0756	0.08225	T	0.059	0.24908	T	10	0.0074940026	0.00170	T	0.018381	0.40424	T	0.139	0.37390	.	.	0.35158688536	0.34763	0.5716734833746294	0.57095	0.449474654924	0.44736	0.588885128498	0.51336	T	0.408685	0.76394	T	-0.415663	0.01824	T	-0.365843	0.37374	T	0.0195920929002198	0.00662	T	0.973803	0.91165	D	0.07947722	0.18158	0.10210983	0.24465	0.12459458	0.29230	0.1255882	0.30257	-7.056	0.55057	T	0.11154926837468247	0.09550	0.128	0.43074	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.561190	0.71881	25.7	0.99804019341341177	0.88817	0.95193	0.63781	D	AEFGBI	0.669463	0.63689	D	0.261448845677485	0.54209	3.58695	0.406806312695072	0.61987	4.407017	0.999999999872569	0.74766	0.744818	0.98587	0	0.633656	0.55848	0	0.732433	0.93434	0	0.727631	0.95156	0	.	.	6.16	6.16	0.99302	4.060000	0.57191	7.639000	0.63104	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.851000	0.40252	0.0:1.0:0.0:0.0	20.860	0.99763	972	0.05671	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.000000	0.001359	0.005848	0.000000	0.017241	0.009146	0.015152	0.08333	1156.83	111	chr18	58329012	.	C	T	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.196;SOR=0.637	GT:AD:DP:GQ:PL	0/1:67,44:111:99:1167,0,1657	5	0	1	0
chr18	61816354	61816354	A	G	exonic	RNF152	.	nonsynonymous SNV	RNF152:NM_173557:exon2:c.T110C:p.V37A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.0322621528036	0.0033	0.000599042	0.0026	0.0010	0.0010	0	0.0014	0.0043	0.0011	0.0003	0.0027231	421	154602	rs144135723	0.0042	0.0042	0.0044	0.0041	0.0051	0.0042	0.0041	0.0050	0.0050	0.0004	0.0013	0.0029	0	0.0016	0.0005	0.0051	0.0040	0.0005	0.0027	0.0027	0.0028	0.0026	0.0046	0.0025	0.0024	0.0042	0.0040	0.0009	0	0.0021	0.0040	0	0.0009	0	0.0046	0.0005	0.0004	0.167	0.23095	T	0.162	0.31225	T	0.455	0.36245	P	0.288	0.40614	B	0.000015	0.62929	D	0.066443	0.999986	0.54805	D	0.25	0.09762	N	-2.86	0.91421	D	-0.23	0.10656	N	0.602	0.62018	-0.1799	0.78182	T	0.480	0.80129	T	10	0.027457595	0.00891	T	0.032262	0.54132	D	0.596	0.83965	.	.	0.914512200338	0.91365	0.35514923628734785	0.35428	0.739256525941	0.63156	0.793148756027	0.80921	T	0.309316	0.68135	T	-0.106211	0.35395	T	0.0774095	0.75405	D	0.0533076776075363	0.06073	T	0.782722	0.44372	T	0.08860955	0.20676	0.12638915	0.30439	0.08860955	0.20676	0.12638915	0.30438	-4.574	0.31843	T	.	.	0.713	0.73508	P	.;.	.;.	3.352492	0.46249	22.3	0.91365582232566522	0.20630	0.98214	0.80602	D	AEFBI	0.883587	0.81262	D	0.0442595265330801	0.43878	2.672305	0.223719913152823	0.51167	3.301583	0.999999969545721	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.97	4.97	0.65419	8.546000	0.90465	8.031000	0.76273	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.815	0.69659	949	0.11373	Zinc finger, RING-type|Zinc finger, RING-type|Zinc finger, RING-type;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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1403.83	95	chr18	61816354	.	A	G	1403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.712;DP=295;ExcessHet=0;FS=2.839;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-1.546;SOR=1.048	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1414,0,1329	5	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	.	.	.	.	.	.	.	.	0.1667	229.06	59	chr18	65824683	.	C	G	229.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.603;DP=273;ExcessHet=0.6695;FS=191.009;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.122;SOR=8.015	GT:AD:DP:GQ:PL	0/1:39,20:59:99:108,0,814	2	0	1	3
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F,RTTN:NM_173630:exon45:c.G6038T:p.C2013F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	9	1472	39	2	0	43	0.0143957	.	.	.	135637	RTTN-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.013587	0.032164	0.000000	0.000000	0.000000	0.011364	0.1667	2140.06	94	chr18	70020730	.	C	A	2140.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.075;DP=316;ExcessHet=0.4139;FS=5.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.87;SOR=0.406	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1146,0,1271	4	0	2	0
chr18	79486367	79486367	C	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278673:exon8:c.C796A:p.P266T,NFATC1:NM_172388:exon8:c.C796A:p.P266T,NFATC1:NM_001278669:exon9:c.C2212A:p.P738T,NFATC1:NM_006162:exon9:c.C2212A:p.P738T,NFATC1:NM_172387:exon9:c.C2173A:p.P725T,NFATC1:NM_172389:exon9:c.C2173A:p.P725T	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0318305068709	.	.	1.657e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs750139191	2.464e-05	2.463e-05	2.588e-05	2.34e-05	0.0009	1.804e-05	1.601e-05	0.0003	0.0002	8.961e-05	0	0	0	0	0.0009	1.799e-05	9.937e-05	2.319e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.262	0.16738	T	0.159	0.37589	T	0.165	0.28508	B	0.041	0.23986	B	0.000766	0.41888	D	0.229842	0.999783	0.81001	D	1.555	0.39373	L	2.02	0.21119	T	-1.56	0.44284	N	0.535	0.56833	-1.0980	0.04341	T	0.032	0.13548	T	10	0.1578762	0.29700	T	0.031831	0.53814	D	0.095	0.27398	0.211	0.12923	0.253981072376	0.25009	0.23337347957106974	0.23252	0.356953123442	0.37425	0.478907972574	0.35907	T	0.31994	0.69118	T	-0.220258	0.17958	T	-0.457308	0.26893	T	0.0726464092731476	0.09017	T	0.89941	0.65680	D	0.09842042	0.23214	0.07021729	0.14893	0.09842042	0.23214	0.07021729	0.14892	-4.836	0.36414	T	.	.	0.068	0.06159	B	.;.;.;.;.;.	.;.;.;.;.;.	1.322322	0.17263	13.06	0.70741784318513912	0.09395	0.93606	0.58678	D	AEFDBI	0.343004	0.43897	N	-0.795105203905039	0.13437	0.6619339	-0.718800801226384	0.16492	0.8727317	0.999999717665849	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.654926	0.60358	0	.	.	4.66	3.78	0.42629	3.363000	0.52044	3.068000	0.36188	-0.216000	0.08207	0.982000	0.35529	0.993000	0.31925	0.000000	0.00833	0.0:0.9221:0.0:0.0779	13.192	0.59138	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1168.83	116	chr18	79486367	.	C	A	1168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.074;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.859;SOR=0.631	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1179,0,1696	5	0	1	0
chr19	1491331	1491331	T	C	exonic	REEP6	.	nonsynonymous SNV	REEP6:NM_001329556:exon1:c.T62C:p.V21A,REEP6:NM_138393:exon1:c.T62C:p.V21A	Retinitis pigmentosa 77, Autosomal recessive	409	1111	2	0	0	2	0.000899281	.	.	.	958564	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0114930839127	.	.	8.222e-05	0	0	0	0	0	0.0098	0	6.5e-06	1	154602	rs746879220	2.257e-05	2.189e-05	2.818e-05	1.679e-05	0.0001	1.601e-05	1.39e-05	3.267e-05	1.705e-05	0	0.0001	0	0	0	0	2.289e-05	1.825e-05	2.801e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.557	0.06441	T	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.725	0.01781	N	0.87	0.46412	T	-0.19	0.09965	N	0.034	0.00942	-0.9949	0.31326	T	0.038	0.16462	T	9	0.024297625	0.00664	T	0.011493	0.29167	T	0.022	0.04323	0.295	0.25881	0.0482279557977	0.04254	0.21103065093504084	0.21019	0.289394105222	0.31353	0.707965493202	0.68298	T	.	.	.	-0.368027	0.03695	T	-0.766422	0.02887	T	0.0171201235328612	0.00458	T	0.145985	0.01199	T	.	.	.	.	.	.	.	.	-0.907	0.00902	T	.	.	0.089	0.12132	B	.	.	1.234813	0.16299	12.45	0.57012111213252514	0.05676	0.10028	0.15645	N	ALL	0.285285	0.39794	N	-1.46946525359638	0.02068	0.09094556	-1.43895337600375	0.02871	0.1329004	0.999999999960827	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	4.04	-0.589	0.11097	0.254000	0.18084	0.514000	0.19106	-0.725000	0.03763	0.005000	0.17040	0.546000	0.25442	0.045000	0.14751	0.0:0.3992:0.0:0.6008	7.033	0.24156	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	.	.	.	.	.	.	.	.	0.08333	1509.83	96	chr19	1491331	.	T	C	1509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.937;DP=256;ExcessHet=0;FS=1.746;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.398;SOR=0.976	GT:AD:DP:GQ:PL	0/1:34,62:96:99:1520,0,779	5	0	1	0
chr19	3760029	3760029	G	A	exonic	APBA3	.	nonsynonymous SNV	APBA3:NM_004886:exon2:c.C236T:p.A79V	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0080	0.00299521	0.0061	0.0016	0.0009	0	0.0030	0.0102	0.0056	0.0006	0.0066235	1024	154602	rs11556574	0.0099	0.0099	0.0102	0.0096	0.0119	0.0098	0.0097	0.0117	0.0117	0.0014	0.0016	0.0130	2.519e-05	0.0030	0.0026	0.0119	0.0091	0.0011	0.0068	0.0068	0.0073	0.0062	0.0125	0.0064	0.0063	0.0118	0.0115	0.0017	0.0033	0.0020	0.0127	0.0002	0.0023	0	0.0125	0.0038	0.0004	0.222	0.18823	T	0.515	0.10643	T	0.008	0.14655	B	0.011	0.15521	B	0.173342	0.03128	N	1.883730	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-0.75	0.21003	N	0.159	0.16586	-1.0431	0.16383	T	0.049	0.21026	T	10	0.0060242116	0.00135	T	.	.	.	0.017	0.02790	.	.	0.428630128466	0.42480	0.10755876107291011	0.10684	0.0528012981762	0.05821	0.277809500694	0.07189	T	0.058741	0.30925	T	-0.667972	0.00056	T	-0.721241	0.04736	T	0.00160722926076062	0.00016	T	0.589941	0.21689	T	0.020213196	0.00573	0.03508607	0.02695	0.020213196	0.00573	0.03508607	0.02695	-4.523	0.31188	T	.	.	0.070	0.03625	B	.	.	0.709685	0.10788	7.470	0.93165470757757418	0.22820	0.02915	0.07720	N	AEFBI	0.039258	0.05677	N	-0.983869815305589	0.08948	0.4215341	-1.01483234891875	0.09459	0.4706969	0.984644244158105	0.30751	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	-0.517	0.11350	-0.824000	0.04545	0.746000	0.21199	0.585000	0.30472	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.0925:0.2707:0.4794:0.1574	3.925	0.08757	970	0.06235	.	MAP2K2	Brain_Hippocampus	.	.	rs11556574	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1667	3828.04	118	chr19	3760029	.	G	A	3828.04	.	AC=2;AF=0.167;AN=12;DP=301;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.44;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3848,354,0	5	1	0	0
chr19	6731038	6731038	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon17:c.C1508T:p.P503L,GPR108:NM_020171:exon17:c.C782T:p.P261L	.	429	1088	5	0	0	5	0.00229253	.	.	.	2363347	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.164429138664	0.0004	0.000199681	0.0004	0.0001	8.658e-05	0.0001	0	0.0007	0.0011	0	0.0003946	61	154602	rs202003872	0.0005	0.0005	0.0005	0.0005	0.0055	0.0005	0.0005	0.0040	0.0035	0.0007	2.236e-05	0.0011	0	3.755e-05	0.0055	0.0005	0.0009	6.956e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	6.541e-05	0.0012	0.0004	0	0.0102	0.0005	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	U	0.000000	1	0.81001	D	2.92	0.84325	M	1.69	0.27032	T	-9.12	0.98616	D	0.38	0.42149	-0.8958	0.48408	T	0.153	0.48274	T	10	0.42449296	0.57083	T	0.164429	0.84354	D	0.295	0.61502	.	.	0.467923293426	0.46417	0.7391674632980586	0.73861	0.848240963951	0.68415	0.471112430096	0.34834	T	0.375615	0.76042	T	-0.230642	0.16564	T	-0.194433	0.55173	T	0.832968294620514	0.48762	D	0.978602	0.92442	D	0.59733593	0.72548	0.50368613	0.71311	0.59733593	0.72549	0.50368613	0.71311	-11.269	0.81113	D	.	.	0.379	0.58340	A	.;.;.;.	.;.;.;.	3.471882	0.48438	22.6	0.99647669262327798	0.77068	0.79693	0.39540	D	AEFDBHCI	0.762882	0.70016	D	0.338809909210166	0.58151	3.985813	0.181277636002997	0.48822	3.093024	0.999999904451037	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.91	2.87	0.32523	3.770000	0.55020	1.861000	0.29322	0.526000	0.24426	1.000000	0.71638	0.996000	0.32793	0.049000	0.15107	0.1106:0.0:0.8894:0.0	9.226	0.36571	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	1589.83	83	chr19	6731038	.	G	A	1589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.579;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,43:83:99:0|1:6731038_G_A:1600,0,1510:6731038	5	0	1	0
chr19	7647478	7647478	A	G	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon18:c.A1654G:p.R552G,STXBP2:NM_001272034:exon18:c.A1696G:p.R566G,STXBP2:NM_006949:exon18:c.A1663G:p.R555G	Hemophagocytic lymphohistiocytosis, familial, 5	0	1517	5	0	0	5	0.00164528	.	.	.	257288	Autoinflammatory_syndrome|not_specified|Familial_hemophagocytic_lymphohistiocytosis_5|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0089	0.0121805	0.0043	0.0370	0.0015	0.0110	0	0.0002	0.0016	0.0007	0.0031306	484	154602	rs61736586	0.0011	0.0011	0.0012	0.0009	0.0298	0.0010	0.0010	0.0283	0.0277	0.0298	0.0017	3.849e-05	0.0053	0	0.0040	5.774e-05	0.0024	0.0005	0.0084	0.0085	0.0085	0.0084	0.0280	0.0081	0.0079	0.0267	0.0261	0.0280	0	0.0027	0	0.0087	0	0	0.0002	0.0085	0.0012	0.035	0.43708	D	0.038	0.51421	D	0.001	0.07471	B	0.001	0.04355	B	0.017549	0.27695	N	0.332186	0.999998	0.08975	N	0.865	0.21413	L	-1.1	0.77336	T	-2.56	0.55339	D	0.42	0.46462	-0.9384	0.42869	T	0.052	0.22192	T	10	0.0067243576	0.00153	T	.	.	.	0.268	0.58254	.	.	0.627432410915	0.62439	0.5753117493667321	0.57460	0.310485018044	0.33361	0.289287298918	0.08818	T	0.410902	0.81926	T	-0.35213	0.04594	T	-0.255589	0.49264	T	0.015698409145964	0.00362	T	0.911409	0.68582	D	0.27829647	0.50884	0.25244203	0.50873	0.34024245	0.56299	0.25346318	0.50993	-11.741	0.85079	D	0.2378468910035356	0.32211	0.113	0.37331	B	.;.;.;.	.;.;.;.	2.926547	0.38864	20.8	0.98723276957716022	0.45230	0.15721	0.19049	N	AEFBCI	0.388359	0.46800	N	-0.72329033338605	0.15368	0.773889	-0.696347534144345	0.17051	0.9049362	0.997950632603378	0.36237	0.706298	0.61202	0	0.702456	0.74545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	-3.8	0.04025	1.066000	0.30215	2.826000	0.34993	0.751000	0.87719	0.000000	0.06391	1.000000	0.68203	0.941000	0.48210	0.3151:0.4852:0.0:0.1998	8.444	0.31994	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008569	0.000000	0.016304	0.017544	0.000000	0.000000	0.000000	0.003788	0.08333	624.83	47	chr19	7647478	.	A	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.332;DP=215;ExcessHet=0;FS=6.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.203;SOR=1.283	GT:AD:DP:GQ:PL	0/1:22,25:47:99:635,0,539	5	0	1	0
chr19	8073255	8073255	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon62:c.C7745T:p.A2582V,FBN3:NM_032447:exon62:c.C7745T:p.A2582V	.	409	1110	3	0	0	3	0.00134953	.	.	.	742221	not_provided|FBN3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.395	0.0282863173429	0.0015	0.00259585	0.0007	0.0045	0.0024	0	0	7.654e-05	0.0023	6.095e-05	0.0006598	102	154602	rs73923958	0.0002	0.0002	0.0003	0.0002	0.0053	0.0002	0.0002	0.0047	0.0044	0.0053	0.0015	7.653e-05	0	0	0.0021	6.025e-05	0.0006	3.478e-05	0.0016	0.0016	0.0017	0.0014	0.0052	0.0014	0.0014	0.0047	0.0045	0.0052	0	0.0008	0	0	0	0.0034	0.0001	0.0024	0	0.015	0.52492	D	0.008	0.67890	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.23	0.63091	M	1.96	0.22270	T	-2.9	0.60827	D	0.839	0.91505	-0.9052	0.47424	T	0.105	0.38513	T	10	0.021049887	0.00496	T	0.028286	0.50986	D	0.395	0.71004	.	.	0.50970329007	0.50609	0.7358530094103263	0.73530	0.745565018863	0.63500	0.559973716736	0.47264	T	0.537183	0.84088	D	-0.0854725	0.38820	T	0.105677	0.77285	D	0.0333648272507443	0.02531	T	0.952005	0.81587	D	0.7183442	0.79069	0.4929343	0.70670	0.7183442	0.79071	0.4929343	0.70670	-10.351	0.75986	D	.	.	0.223	0.45433	B	.;.;.	.;.;.	3.938647	0.57613	23.9	0.99894118169650981	0.96742	0.96311	0.68520	D	AEFDBHCIJ	0.914576	0.87813	D	0.454486200567587	0.64457	4.700834	0.288777077185396	0.54883	3.652143	1.0	0.98316	0.695654	0.57023	0	0.315538	0.05683	2	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	9.553000	0.97219	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.102000	0.18378	0.0:0.0:1.0:0.0	16.070	0.80721	734	0.53889	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.010101	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1193.83	79	chr19	8073255	.	G	A	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.725;DP=263;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.334;SOR=0.859	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1204,0,1032	5	0	1	0
chr19	8316595	8316595	T	C	exonic	NDUFA7	.	nonsynonymous SNV	NDUFA7:NM_005001:exon3:c.A152G:p.N51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00247868535765	0.0019	0.00259585	0.0005	0.0058	0.0006	0	0	0	0	0	0.0005304	82	154602	rs146105751	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0005	8.993e-07	0.0004	0	0.0021	0.0021	0.0021	0.0022	0.0074	0.0019	0.0019	0.0067	0.0065	0.0074	0	0.0007	0	0	0	0	0	0.0019	0	0.526	0.07116	T	0.766	0.04539	T	0.0	0.02946	B	0.001	0.04355	B	0.029421	0.25455	N	0.452778	0.844506	0.28584	N	0.69	0.16971	N	0.95	0.43279	T	0.06	0.06253	N	0.114	0.10198	-1.0315	0.19970	T	0.035	0.15160	T	10	0.011108696	0.00244	T	0.002479	0.04925	T	0.022	0.04323	.	.	0.210429274316	0.20668	0.30606855336632527	0.30519	0.0678309548807	0.07588	0.290922373533	0.09057	T	0.017173	0.14057	T	-0.650156	0.00072	T	-0.701834	0.05726	T	0.00121964857158349	0.00012	T	.	.	.	0.25390464	0.48415	0.18317242	0.41290	0.25390464	0.48415	0.18317242	0.41289	-2.608	0.06564	T	.	.	0.054	0.00347	B	.	.	1.006440	0.13851	10.41	0.91091708947981676	0.20344	0.61995	0.31649	D	AEFBCI	0.180818	0.30813	N	-0.652486238298255	0.17388	0.8943316	-0.466451214710669	0.23084	1.257061	6.12161460414896E-4	0.07460	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.74	3.62	0.40616	0.365000	0.20076	.	.	-0.108000	0.15293	0.642000	0.28102	0.979000	0.30280	0.800000	0.37734	0.0:0.1632:0.0:0.8368	8.633	0.33094	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	0.002016	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1286.83	125	chr19	8316595	.	T	C	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=296;ExcessHet=0;FS=3.286;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.512;SOR=0.993	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1297,0,1911	5	0	1	0
chr19	8324460	8324460	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.C2371T:p.P791S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0022	0.00259585	0.0011	0.0105	0.0017	0	0	0	0	0	0.0005369	83	154602	rs147910046	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0007	9.033e-07	0.0004	0	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0019	0.0067	0.0065	0.0074	0	0.0007	0	0	0	0	0	0.0019	0	0.21	0.19639	T	0.049	0.48336	D	0.225	0.30426	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.63	0.28002	T	-2.0	0.46146	N	0.198	0.25622	-0.9991	0.30171	T	0.008	0.02720	T	9	0.0029099882	0.00047	T	.	.	.	0.088	0.25558	.	.	0.119812018005	0.11559	0.14510992081021715	0.14433	.	.	0.305510431528	0.11229	T	0.002557	0.01944	T	-0.565264	0.00236	T	-0.579752	0.14567	T	0.0181339758913897	0.00535	T	0.509849	0.16238	T	0.0321509	0.03187	0.057341743	0.10405	0.0321509	0.03187	0.057341743	0.10405	-4.673	0.33076	T	.	.	0.078	0.09336	B	.;.	.;.	1.663329	0.21209	15.10	0.99646969023999077	0.77068	0.56211	0.30059	D	AEFDBHCI	0.111348	0.22049	N	-1.11738843893737	0.06334	0.2912668	-0.958442380249043	0.10727	0.5421668	0.999995029260704	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.691665	0.62940	0	0.711	0.71501	0	.	.	4.72	1.25	0.20475	0.573000	0.23401	.	.	-0.158000	0.11653	0.943000	0.32764	0.861000	0.27489	0.009000	0.08673	0.0955:0.3401:0.5644:0.0	6.859	0.23239	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	0.003027	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.08333	740.83	56	chr19	8324460	.	G	A	740.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.341;DP=225;ExcessHet=0;FS=3.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.03;SOR=0.342	GT:AD:DP:GQ:PL	0/1:27,29:56:99:751,0,765	5	0	1	0
chr19	8731501	8731501	T	A	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.T473A:p.I158N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00630189723222	0.0003	0.000798722	0.0001	0.0007	0.0002	0	0	0.0001	0.0011	0	0.0001876	29	154602	rs111473170	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0.0008	0.0003	0	0	0	0.0012	0.0001	0.0006	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.012	0.63918	D	0.933	0.52105	P	0.812	0.58704	P	0.271523	0.15118	N	0.642232	0.990461	0.24167	N	2.775	0.80997	M	1.12	0.38718	T	-5.27	0.84175	D	0.464	0.50056	-0.8665	0.50790	T	0.177	0.52240	T	10	0.050704986	0.04842	T	0.006302	0.16551	T	0.082	0.23913	.	.	0.584367751947	0.58110	0.24075175195788995	0.23989	0.220743456636	0.24623	0.422321021557	0.28156	T	0.151684	0.49174	T	-0.327376	0.06311	T	-0.365298	0.37437	T	0.119849500026977	0.14415	T	0.857114	0.54640	D	0.82115704	0.85298	0.7566817	0.85621	0.82115704	0.85299	0.7566817	0.85622	-12.092	0.85296	D	.	.	0.327	0.55032	B	.;.	.;.	3.002545	0.40121	21.1	0.99043854774443296	0.51095	0.05834	0.11776	N	AEFDBHCI	0.119705	0.23352	N	-0.0371313255573145	0.40180	2.381752	-0.260020435216585	0.29427	1.648604	0.0325608787850835	0.14060	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.43	3.41	0.38145	1.599000	0.36361	.	.	0.609000	0.47794	0.003000	0.16062	0.766000	0.26662	0.016000	0.10718	0.0:0.0962:0.0:0.9038	8.393	0.31700	.	.	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	0.004028	0.005051	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	3328.83	224	chr19	8731501	.	T	A	3328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.603;DP=468;ExcessHet=0;FS=4.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.112;SOR=0.938	GT:AD:DP:GQ:PL	0/1:97,127:224:99:3339,0,2784	5	0	1	0
chr19	8731681	8731681	A	G	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.A653G:p.Y218C	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00188500634353	0.0003	0.000798722	0.0001	0.0007	0.0002	0	0	0.0001	0.0011	0	0.0001876	29	154602	rs112257905	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0.0008	0.0003	0	0	0	0.0012	0.0001	0.0006	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0003	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000028	0.55875	D	0.000000	0.983339	0.40001	D	4.17	0.97676	H	6.85	0.00481	T	-8.9	0.97928	D	0.62	0.63544	-1.0940	0.04899	T	0.006	0.02055	T	10	0.48262185	0.60521	T	0.001885	0.03299	T	0.256	0.56694	.	.	0.699889232623	0.69729	0.47783008047269243	0.47703	0.256587872952	0.28232	0.424782693386	0.28494	T	0.196643	0.55308	T	-0.171951	0.24940	T	-0.142041	0.59940	T	0.89312607049942	0.54431	D	0.852015	0.53695	D	0.85907984	0.88015	0.636145	0.78756	0.85907984	0.88017	0.636145	0.78757	-7.791	0.59637	D	.	.	0.163	0.35931	B	.;.	.;.	3.420340	0.47492	22.5	0.98924648873852139	0.48620	0.49307	0.28403	N	AEFDBHCI	0.679424	0.64346	D	0.620391990177418	0.74467	6.137438	0.445788208751193	0.64447	4.700084	0.999999659153066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	6.540000	0.73764	.	.	0.691000	0.84096	1.000000	0.71638	0.996000	0.32793	0.006000	0.07323	1.0:0.0:0.0:0.0	12.527	0.55435	.	.	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	0.004028	0.005051	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	2047.83	131	chr19	8731681	.	A	G	2047.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=375;ExcessHet=0;FS=1.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.569;SOR=0.557	GT:AD:DP:GQ:PL	0/1:66,65:131:99:2058,0,2049	5	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q	.	421	1086	15	0	0	15	0.00685871	.	.	.	3191483	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.015152	0.014946	0.002924	0.050000	0.008621	0.003049	0.000000	0.08333	445.83	39	chr19	8871627	.	C	T	445.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=160;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.747;SOR=0.936	GT:AD:DP:GQ:PL	0/1:21,18:39:99:456,0,472	5	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	.	.	.	.	.	.	.	.	0.08333	245.83	483	chr19	8888763	.	G	A	245.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.496;DP=2435;ExcessHet=0;FS=21.698;MLEAC=1;MLEAF=0.083;MQ=56.43;MQRankSum=-9.179;QD=0.51;ReadPosRankSum=1.49;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,38:483:99:0|1:8888763_G_A:256,0,18551:8888763	5	0	1	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	87.83	177	chr19	8899972	.	T	C	87.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.212;DP=357;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.29;MQRankSum=-13.25;QD=0.5;ReadPosRankSum=0.797;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,14:177:98:0|1:8899972_T_C:98,0,6767:8899972	5	0	1	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	78.83	180	chr19	8899974	.	G	A	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.245;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-13.36;QD=0.44;ReadPosRankSum=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,14:180:89:0|1:8899972_T_C:89,0,6893:8899972	5	0	1	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	59.83	186	chr19	8899979	.	G	T	59.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.495;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.33;MQRankSum=-13.58;QD=0.32;ReadPosRankSum=1.49;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,14:186:70:0|1:8899972_T_C:70,0,7172:8899972	5	0	1	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	194.83	201	chr19	8900001	.	C	T	194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.59;DP=382;ExcessHet=0;FS=2.046;MLEAC=1;MLEAF=0.083;MQ=59.15;MQRankSum=-13.69;QD=0.97;ReadPosRankSum=1.82;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,18:201:99:0|1:8900000_C_T:205,0,7630:8900000	5	0	1	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	210.06	206	chr19	8900017	.	C	G	210.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.128;DP=536;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.13;MQRankSum=-12.32;QD=0.54;ReadPosRankSum=1.98;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,18:206:99:0|1:8900000_C_T:190,0,7779:8900000	4	0	2	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	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	.	.	.	.	.	.	.	.	0.25	70.64	123	chr19	8906329	.	A	G	70.64	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.926;DP=470;ExcessHet=1.383;FS=11.04;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-9.356;QD=0.23;ReadPosRankSum=-2.796;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,9:123:35:0|1:8906325_A_C:35,0,4760:8906325	3	0	3	0
chr19	8915540	8915540	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon14:c.C36770G:p.T12257S	.	0	225	1	0	0	1	0.00221729	.	.	.	3208145	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0040	0.00459265	0.0011	0.0123	0.0007	0	0	1.499e-05	0.0022	6.056e-05	0.0010996	170	154602	rs76265586	0.0004	0.0004	0.0005	0.0004	0.0150	0.0004	0.0004	0.0140	0.0135	0.0150	0.0004	0	0	0	0.0030	9.899e-06	0.0009	8.117e-05	0.0036	0.0036	0.0039	0.0033	0.0127	0.0033	0.0033	0.0118	0.0114	0.0127	0	0.0009	0	0	0	0	4.41e-05	0.0014	0.0002	0.387	0.10945	T	0.298	0.20486	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-0.25	0.11008	N	0.156	0.16168	-1.0125	0.26133	T	0.011	0.04134	T	8	0.004139781	0.00082	T	.	.	.	0.019	0.03383	0.589	0.71749	0.0954503805726	0.09146	0.2988940096633552	0.29802	.	.	0.281722426414	0.07734	T	.	.	.	-0.728643	0.00024	T	-0.808391	0.01701	T	0.000717250499075315	0.00006	T	0.0691931	0.00506	T	.	.	.	.	.	.	.	.	-5.735	0.44004	T	.	.	0.146	0.32178	B	.	.	-0.382734	0.02277	0.237	0.42919118697087533	0.03196	0.01368	0.04673	N	AEFBHI	0.026146	0.01912	N	-1.16561596542646	0.05528	0.2522373	-1.30492613252746	0.04366	0.2057816	1.53523536235076E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.39	-2.1	0.06809	-2.225000	0.01295	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.2146:0.3508:0.4346	4.550	0.11505	934	0.15400	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	1	0	0.006048	0.000000	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	2288.83	148	chr19	8915540	.	G	C	2288.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.018;DP=329;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.554;SOR=0.89	GT:AD:DP:GQ:PL	0/1:66,82:148:99:2299,0,1899	5	0	1	0
chr19	8957433	8957433	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C19337T:p.A6446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000770345813843	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762161303	6.842e-06	6.84e-06	5.446e-06	8.252e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.011	0.55530	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.46	0.14978	N	0.073	0.04668	-0.9434	0.42073	T	0.006	0.02093	T	8	0.06711054	0.09302	T	7.7E-4	0.00568	T	0.034	0.08419	0.175	0.08135	0.0401082797425	0.02173	0.018707771294956196	0.01824	.	.	0.181930422783	0.00113	T	.	.	.	-0.322275	0.06712	T	-0.700702	0.05788	T	0.0512296093059648	0.05715	T	0.285071	0.05059	T	.	.	.	.	.	.	.	.	-4.91	0.35847	T	.	.	0.160	0.35352	B	.	.	0.087974	0.04924	1.499	0.37335709261515232	0.02454	0.00690	0.02947	N	AEFGBI	0.018197	0.00533	N	-1.12581832254173	0.06187	0.2841396	-1.21800973757029	0.05620	0.2683059	3.96830772303044E-4	0.06820	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.15	-0.302	0.12161	0.349000	0.19801	.	.	0.507000	0.23093	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.19:0.299:0.511:0.0	2.953	0.05509	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1830.83	156	chr19	8957433	.	G	A	1830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.182;DP=545;ExcessHet=0;FS=8.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.143;SOR=1.063	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1841,0,2492	5	0	1	0
chr19	9251407	9251407	T	C	exonic	OR7E24	.	nonsynonymous SNV	OR7E24:NM_001079935:exon1:c.T364C:p.F122L	.	.	.	.	.	.	.	.	.	.	.	2209646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0011446209938	0.0002	0.000199681	0.0002	0.0018	0.0002	0	0	1.499e-05	0	0	0.0001488	23	154602	rs200199432	7.046e-05	7.046e-05	7.214e-05	6.875e-05	0.0022	5.913e-05	5.522e-05	0.0018	0.0016	0.0022	0.0001	0	0	0	0.0010	1.799e-06	0.0003	1.159e-05	0.0006	0.0006	0.0006	0.0007	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0003	0	0	0	0	0	0	0	0.138	0.25873	T	0.12	0.35970	T	0.008	0.14655	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.4	0.35362	L	4.95	0.01376	T	-3.99	0.73893	D	0.07	0.04307	-0.9166	0.46011	T	0.004	0.01295	T	9	0.010150582	0.00227	T	0.001145	0.01410	T	0.036	0.09122	0.352	0.35084	0.0806252709748	0.07271	.	.	0.0153011286688	0.01459	0.252220988274	0.04005	T	0.024685	0.18606	T	-0.68081	0.00047	T	-0.757976	0.03185	T	0.00474138673503999	0.00051	T	0.121888	0.00944	T	0.15524699	0.35096	0.121972546	0.29425	0.15524699	0.35096	0.121972546	0.29424	-3.309	0.13853	T	.	.	0.570	0.67652	P	.;.	.;.	1.306023	0.17084	12.95	0.71604078948274785	0.09685	0.05316	0.11166	N	AEDI	0.054379	0.09882	N	-1.06765243736271	0.07246	0.33601	-1.15654002053839	0.06651	0.320868	1.66519160638388E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.39	0.039	0.13522	0.189000	0.16845	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1253:0.2064:0.6683	4.179	0.09828	970	0.06235	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	.	.	.	.	.	.	.	.	0.08333	1548.83	100	chr19	9251407	.	T	C	1548.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=317;ExcessHet=0;FS=1.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.922;SOR=0.619	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1559,0,1339	5	0	1	0
chr19	12774874	12774874	-	G	exonic	HOOK2	.	frameshift insertion	HOOK2:NM_001100176:exon2:c.68dupC:p.P24Sfs*137,HOOK2:NM_013312:exon2:c.68dupC:p.P24Sfs*137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.778e-06	0	0	0	0	1.578e-05	0	0	3.84e-05	1	26028	rs747235762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	781.79	60	chr19	12774874	.	A	AG	781.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.929;DP=235;ExcessHet=0;FS=5.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.11;SOR=1.536	GT:AD:DP:GQ:PL	0/1:34,26:60:99:792,0,1093	5	0	1	0
chr19	13112787	13112787	G	A	exonic	TRMT1	.	nonsynonymous SNV	TRMT1:NM_001142554:exon6:c.C788T:p.A263V,TRMT1:NM_001351762:exon6:c.C5T:p.A2V,TRMT1:NM_017722:exon6:c.C788T:p.A263V,TRMT1:NM_001136035:exon7:c.C788T:p.A263V,TRMT1:NM_001351760:exon7:c.C788T:p.A263V,TRMT1:NM_001351761:exon7:c.C680T:p.A227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.175363457585	.	.	1.656e-05	0	0	0	0	1.51e-05	0	6.058e-05	1.29e-05	2	154602	rs772113572	8.894e-06	8.893e-06	4.084e-06	1.375e-05	9.276e-05	4.96e-06	3.82e-06	4.579e-05	3.273e-05	2.987e-05	0	0	0	0	0	3.597e-06	0	9.276e-05	1.314e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.999	0.90584	D	0.977	0.73820	D	0.000003	0.62929	D	0.059245	1	0.81001	D	3.945	0.96414	H	.	.	.	-3.77	0.71397	D	0.773	0.77319	0.256	0.86838	D	0.545	0.83289	D	9	0.89600074	0.88954	D	0.175363	0.85147	D	0.389	0.70521	0.828	0.93851	0.778858723293	0.77681	0.8105794898123677	0.81012	1.64088380601	0.89372	0.802544474602	0.82351	T	0.541108	0.84290	D	0.242059	0.77855	D	0.291452	0.87760	D	0.988206684589386	0.78569	D	0.974702	0.97673	D	0.54511464	0.69683	0.5487754	0.73913	0.54511464	0.69684	0.5487754	0.73913	-14.176	0.93614	D	0.8154807712542186	0.88957	0.523	0.78671	A	.;.;.;.;.	.;.;.;.;.	5.239223	0.87955	29.4	0.99939355803155594	0.99734	0.90196	0.51183	D	AEFBCI	0.699695	0.65696	D	0.823685740924278	0.87562	9.261651	0.747967428873308	0.86004	8.752989	0.999999999999888	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	4.045000	0.57081	11.419000	0.92710	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	15.582	0.76198	797	0.45241	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	701.83	46	chr19	13112787	.	G	A	701.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=220;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=1.4;SOR=1.037	GT:AD:DP:GQ:PL	0/1:22,24:46:99:712,0,569	5	0	1	0
chr19	15807391	15807391	A	G	exonic	OR10H1	.	nonsynonymous SNV	OR10H1:NM_013940:exon1:c.T647C:p.L216P	.	424	1051	47	0	0	47	0.0218706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00497721725188	.	.	0.0040	0.0014	0.0023	0.0028	0.0008	0.0058	0.0078	0.0013	0.0001537	4	26028	rs201868341	0.0009	0.0053	0.0005	0.0012	0.0027	0.0008	0.0008	0.0017	0.0014	0.0001	0.0003	0.0005	0.0006	0.0002	0.0027	0.0010	0.0008	0.0001	9.228e-05	0.0004	5.153e-05	0.0001	0.0002	5.544e-05	4.378e-05	9.074e-05	7.031e-05	2.417e-05	0	6.58e-05	0	0	0	0	0.0002	0	0.0002	0.008	0.58626	D	0.01	0.65728	D	0.997	0.70673	D	0.976	0.73562	D	0.011531	0.29496	N	0.158488	0.937307	0.37186	D	3.125	0.87999	M	8.34	0.00254	T	-4.7	0.79829	D	0.532	0.56058	-0.6863	0.61080	T	0.002	0.00615	T	10	0.021655262	0.00523	T	0.004977	0.12566	T	0.135	0.36572	.	.	0.58541143898	0.58214	.	.	1.81049548264	0.91795	0.319713652134	0.13377	T	0.017079	0.13999	T	-0.0247959	0.48168	T	-0.273394	0.47475	T	0.970065653324127	0.68815	D	0.782522	0.41827	T	0.93926	0.95172	0.83547354	0.90541	0.93926	0.95172	0.83547354	0.90542	-10.596	0.77397	D	.	.	0.505	0.67594	A	.;.	.;.	4.128568	0.61766	24.4	0.99851351404092892	0.93102	0.16326	0.19337	N	AEFGBI	0.125126	0.24149	N	0.496662403661105	0.66893	5.009706	0.355419994741042	0.58836	4.056645	0.00147141363488097	0.08567	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	2.769000	0.47338	.	.	0.638000	0.52053	0.014000	0.18986	0.768000	0.26677	0.781000	0.36947	1.0:0.0:0.0:0.0	12.564	0.55648	976	0.04745	GPCR, rhodopsin-like, 7TM;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	0.037764	0.070707	0.024457	0.038012	0.050000	0.060345	0.036585	0.030303	0.08333	36.83	215	chr19	15807391	.	A	G	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.347;DP=390;ExcessHet=0;FS=1.623;MLEAC=1;MLEAF=0.083;MQ=46.87;MQRankSum=-7.692;QD=0.17;ReadPosRankSum=2;SOR=0.529	GT:AD:DP:GQ:PL	0/1:187,28:215:47:47,0,6219	5	0	1	0
chr19	18175059	18175059	G	A	exonic	IFI30	.	nonsynonymous SNV	IFI30:NM_006332:exon2:c.G152A:p.R51Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00237536687829	.	.	7.764e-05	0.0007	8.999e-05	0	0	3.108e-05	0	0	7.12e-05	11	154602	rs200549788	7.048e-05	7.046e-05	7.08e-05	7.016e-05	0.0006	5.915e-05	5.524e-05	0.0004	0.0003	0.0006	0	0	0	0	0	7.376e-05	1.657e-05	0	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.548e-05	0	0	0	0	0.0001	0	0	0.373	0.11442	T	0.771	0.04461	T	0.028	0.19712	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	0.26	0.04380	N	0.051	0.02272	-0.9958	0.31082	T	0.032	0.13942	T	8	0.020404309	0.00470	T	0.002375	0.04618	T	0.002	0.00045	.	.	0.225215365344	0.22153	0.31011496527785143	0.30924	0.0193175331539	0.01893	0.222621142864	0.01466	T	0.010634	0.20771	T	-0.600361	0.00145	T	-0.70263	0.05683	T	0.00559782072194108	0.00061	T	0.541246	0.18358	T	0.017121237	0.00247	0.026767066	0.00785	0.017121237	0.00247	0.026767066	0.00785	-3.238	0.12951	T	.	.	0.072	0.05845	B	.;.	.;.	0.615402	0.09840	6.601	0.73084151088501248	0.10201	0.03425	0.08555	N	AEFDGBHCI	0.180580	0.30788	N	-1.58452661894019	0.01344	0.05853991	-1.63986886702582	0.01429	0.06462142	0.999995697392577	0.74766	0.609539	0.35627	0	0.52208	0.09955	0	0.493711	0.08198	1	0.616125	0.45549	0	.	.	3.36	-3.26	0.04750	-2.125000	0.01404	-4.909000	0.01931	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2592:0.0:0.4171:0.3237	3.679	0.07835	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3331.04	105	chr19	18175059	.	G	A	3331.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.72;SOR=1.168	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3351,315,0	5	1	0	0
chr19	18444857	18444857	G	C	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon12:c.C1761G:p.N587K	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0434998648516	.	0.000599042	0.0005	0	0.0002	0	0	7.602e-05	0	0.0029	0.0003687	57	154602	rs568878298	0.0002	0.0002	8.864e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	6.713e-05	0.0003	0	0	0.0006	1.889e-05	3.318e-05	0.0029	0.0001	0.0001	7.706e-05	0.0001	0.0021	6.505e-05	5.317e-05	0.0011	0.0009	0	0	0	0.0006	0	0	0	4.41e-05	0.0005	0.0021	0.006	0.61437	D	0.042	0.63109	D	0.995	0.67487	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.02	0.55341	M	1.98	0.21865	T	-3.53	0.68532	D	0.358	0.51226	-1.1041	0.03630	T	0.090	0.34518	T	10	0.014342755	0.00302	T	0.043	0.61013	D	0.109	0.30843	0.418	0.45873	0.584147545485	0.58087	0.19120281255201146	0.19038	0.863994206934	0.69109	0.730985343456	0.71649	T	0.238891	0.60688	T	-0.483543	0.00705	T	-0.471344	0.25371	T	0.158863580638249	0.17787	T	0.871113	0.60854	D	0.6056391	0.72994	0.47900754	0.69822	0.6056391	0.72995	0.47900754	0.69822	-10.886	0.79029	D	.	.	0.257	0.66138	B	.;.	.;.	4.259945	0.64735	24.7	0.99742601368468353	0.83629	0.92790	0.56552	D	AEFBI	0.402440	0.47652	N	0.186306658775754	0.50543	3.243178	0.153296743359521	0.47318	2.963731	0.999580058944541	0.40607	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.87	2.66	0.30672	2.170000	0.42071	5.781000	0.49805	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1477:0.0:0.8523:0.0	10.171	0.42084	958	0.09170	Occludin homology domain;Occludin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2060.04	63	chr19	18444857	.	G	C	2060.04	.	AC=2;AF=0.167;AN=12;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.7;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2080,189,0	5	1	0	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	240.83	111	chr19	21383191	.	G	A	240.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.484;DP=287;ExcessHet=0;FS=6.009;MLEAC=1;MLEAF=0.083;MQ=58.33;MQRankSum=-8.597;QD=2.17;ReadPosRankSum=0.8;SOR=1.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,13:111:99:0|1:21383168_A_G:251,0,4076:21383168	5	0	1	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	117.83	107	chr19	21383196	.	T	C	117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=283;ExcessHet=0;FS=9.983;MLEAC=1;MLEAF=0.083;MQ=58.51;MQRankSum=-9.211;QD=1.1;ReadPosRankSum=0.847;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,10:107:99:0|1:21383168_A_G:128,0,4043:21383168	5	0	1	0
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.79	103	chr19	21383203	.	A	AACTC	39.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.014;DP=279;ExcessHet=0;FS=5.45;MLEAC=1;MLEAF=0.083;MQ=58.71;MQRankSum=-8.839;QD=0.39;ReadPosRankSum=0.56;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:21383168_A_G:50,0,3965:21383168	5	0	1	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.79	103	chr19	21383205	.	GTCAA	G	39.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.05;DP=279;ExcessHet=0;FS=5.45;MLEAC=1;MLEAF=0.083;MQ=58.92;MQRankSum=-9.472;QD=0.39;ReadPosRankSum=-0.044;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:21383168_A_G:50,0,3965:21383168	5	0	1	0
chr19	22315414	22315414	G	A	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G1997A:p.S666N	.	437	1080	4	1	0	6	0.00277008	.	.	.	3351186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00290938411645	.	0.000199681	0.0004	0	0.0003	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs76060577	0.0001	0.0001	0.0001	0.0001	0.0084	0.0001	9.425e-05	0.0065	0.0058	8.971e-05	8.959e-05	0	0	0	0.0084	7.739e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0003	0.0010	0.0002	.	.	.	0.548	0.09489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.565	0.39561	L	3.18	0.07478	T	.	.	.	0.087	0.06454	-0.9159	0.46103	T	0.012	0.04558	T	6	0.028528452	0.00984	T	0.002909	0.06162	T	.	.	.	.	0.0297737177859	0.01360	0.019517494350364255	0.01905	0.00892015054341	0.00808	0.335800886154	0.15808	T	0.001417	0.00874	T	-0.627771	0.00099	T	-0.902857	0.00483	T	0.0296098236783413	0.01930	T	0.0259474	0.00157	T	0.026525745	0.01720	0.06902451	0.14491	0.026525745	0.01720	0.06902451	0.14491	-1.625	0.02041	T	.	.	0.199	0.42215	B	.	.	-0.890324	0.00942	0.036	0.22874484851242882	0.00941	0.00077	0.00530	N	AEFBI	0.017080	0.00424	N	-1.48439147408751	0.01960	0.08605439	-1.69226487636316	0.01172	0.05273191	2.79164052675671E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.996	-1.99	0.07047	-4.981000	0.00191	.	.	-3.008000	0.00140	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.2765:0.4925:0.231:0.0	4.146	0.09682	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	1	0	0.008743	0.005051	0.010870	0.005319	0.000000	0.025862	0.009202	0.007576	0.1667	3338.04	103	chr19	22315414	.	G	A	3338.04	.	AC=2;AF=0.167;AN=12;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=57.33;QD=32.41;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3358,309,0	5	1	0	0
chr19	32676628	32676628	C	G	exonic	RGS9BP	.	nonsynonymous SNV	RGS9BP:NM_207391:exon1:c.C365G:p.S122C	Bradyopsia	0	1513	8	1	0	10	0.00329381	.	.	.	513659	Bradyopsia|not_provided|Retinal_dystrophy	Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0688471474312	.	.	9.932e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs749927570	3.627e-05	3.42e-05	1.86e-05	5.443e-05	0.0004	2.79e-05	2.518e-05	0.0003	0.0003	0	0	0	0	2.992e-05	0.0004	9.292e-06	6.945e-05	0.0004	3.945e-05	3.938e-05	0	8.07e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0.0002	0	0	4.416e-05	0	0.0004	0.007	0.59928	D	0.014	0.62352	D	0.846	0.46778	P	0.54	0.48825	P	0.014590	0.28488	U	0.322793	1	0.08975	N	2.25	0.63811	M	0.72	0.50976	T	-2.56	0.55339	D	0.114	0.10198	-0.8634	0.51017	T	0.169	0.50987	T	10	0.20918679	0.37273	T	0.068847	0.70564	D	0.126	0.34673	0.418	0.45873	0.756747477858	0.75454	0.5535705496843362	0.55283	.	.	0.78470480442	0.79639	T	0.412436	0.76660	T	-0.447689	0.01165	T	-0.552891	0.17050	T	0.692482948303223	0.40363	D	0.713829	0.32570	T	0.19729699	0.41589	0.1607076	0.37418	0.13928048	0.32178	0.21318413	0.45818	-6.089	0.47018	T	.	.	0.146	0.32226	B	.	.	1.898755	0.24116	16.28	0.93448011439793544	0.23228	0.23749	0.22176	N	AEFDBHCI	0.122681	0.23794	N	-0.337209100052607	0.27745	1.524722	-0.512344112651966	0.21817	1.18208	0.999999995378835	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	4.68	2.5	0.29355	1.291000	0.32936	1.363000	0.25896	0.505000	0.23025	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.728:0.272:0.0	14.829	0.69764	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2482.04	65	chr19	32676628	.	C	G	2482.04	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.73;SOR=3.293	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2502,195,0	5	1	0	0
chr19	32960014	32960014	C	A	exonic	CEP89	.	nonsynonymous SNV	CEP89:NM_032816:exon3:c.G191T:p.R64L	.	430	1080	10	2	0	14	0.00643974	.	.	.	2024753	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0146387710424	.	.	4.965e-05	0	0	0	0	3.007e-05	0	0.0002	4.53e-05	7	154602	rs116019599	8.961e-05	8.961e-05	8.303e-05	9.625e-05	0.0010	7.689e-05	7.233e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.104e-05	9.934e-05	0.0005	6.563e-05	6.561e-05	3.853e-05	9.395e-05	0.0004	3.513e-05	2.613e-05	7.287e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.009	0.57480	D	0.008	0.69154	D	0.892	0.49086	P	0.67	0.53116	P	0.472157	0.12264	N	0.759598	0.999996	0.08975	N	2.67	0.78151	M	1.65	0.27650	T	-3.96	0.73579	D	0.724	0.73105	-0.9957	0.31109	T	0.112	0.40099	T	10	0.53333974	0.63308	D	0.014639	0.34889	T	0.132	0.35948	.	.	0.32714864917	0.32323	0.29498917775714634	0.29411	0.255115430892	0.28099	0.268362790346	0.05929	T	0.12069	0.65273	T	-0.345833	0.04993	T	-0.429994	0.29935	T	0.549925088882446	0.34475	D	0.875013	0.63576	D	0.08225193	0.18940	0.110259674	0.26584	0.08225193	0.18939	0.110259674	0.26584	-12.237	0.85986	D	.	.	0.360	0.60538	A	.;.	.;.	1.388933	0.18013	13.50	0.99350223261177117	0.60574	0.27506	0.23297	N	AEFDGBI	0.094543	0.19115	N	-0.33371719602721	0.27876	1.532904	-0.530808121958505	0.21318	1.152695	0.00213238717284779	0.09181	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	-0.0689	0.13087	0.167000	0.16419	-0.568000	0.08441	-0.171000	0.11205	0.053000	0.21524	0.000000	0.08366	0.004000	0.06068	0.0:0.6361:0.0:0.3639	9.209	0.36468	328	0.86572	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3910.04	128	chr19	32960014	.	C	A	3910.04	.	AC=2;AF=0.167;AN=12;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.55;SOR=1.051	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3930,384,0	5	1	0	0
chr19	34759750	34759750	G	A	exonic	ZNF599	.	nonsynonymous SNV	ZNF599:NM_001007248:exon4:c.C1051T:p.R351C	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00394990570462	0.0018	0.000199681	0.0011	0.0006	0.0007	0.0001	0.0005	0.0017	0.0011	0.0002	0.0011772	182	154602	rs146248056	0.0016	0.0016	0.0017	0.0015	0.0018	0.0015	0.0015	0.0018	0.0017	0.0002	0.0006	0.0011	0.0001	0.0004	0.0012	0.0018	0.0021	0.0002	0.0012	0.0012	0.0012	0.0012	0.0023	0.0010	0.0010	0.0017	0.0015	0.0003	0	0.0023	0.0006	0.0002	0.0004	0.0034	0.0017	0.0009	0.0006	0.044	0.41096	D	0.029	0.54541	D	0.044	0.21686	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	3.07	0.08547	T	-4.63	0.79229	D	0.256	0.28965	-1.0552	0.12987	T	0.025	0.10910	T	9	0.01378423	0.00291	T	0.00395	0.09337	T	0.070	0.20419	.	.	0.243972157842	0.24002	0.05945173160154679	0.05885	0.187222014402	0.21033	0.327413201332	0.14543	T	0.050664	0.28661	T	-0.514753	0.00472	T	-0.51711	0.20587	T	0.038234498723932	0.03373	T	0.286771	0.05140	T	0.1839845	0.39692	0.29036015	0.55058	0.1839845	0.39691	0.29036015	0.55057	-5.915	0.45562	T	.	.	0.242	0.47632	B	.	.	3.132827	0.42339	21.5	0.99481139247180972	0.66904	0.00004	0.00092	N	AEFDBHCI	0.086396	0.17518	N	-0.732053338472588	0.15124	0.7595273	-0.816068929759902	0.14106	0.7353612	0.00138687664441123	0.08495	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.43	2.43	0.28797	0.013000	0.13206	-2.081000	0.04242	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.892000	0.42986	0.0:0.0:1.0:0.0	10.958	0.46579	332	0.86382	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	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1393.83	86	chr19	34759750	.	G	A	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=270;ExcessHet=0;FS=1.782;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1404,0,1006	5	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2529.4	60	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	*	2529.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.99;DP=363;ExcessHet=0.7136;FS=2.937;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.484;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,33:60:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:1303,0,1027:35511459	4	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	950.98	49	chr19	35511491	.	C	*	950.98	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.29;DP=331;ExcessHet=0.095;FS=2.688;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.252;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,33:49:99:1|0:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:1984,636,907:35511459	3	1	2	0
chr19	35939891	35939891	G	A	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.G466A:p.E156K	.	431	1090	1	0	0	1	0.000458505	.	.	.	4163629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0128607232844	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1007228504	3.173e-05	3.147e-05	2.748e-05	3.603e-05	0.0002	2.433e-05	2.176e-05	0.0001	8.648e-05	5.976e-05	6.71e-05	0	0	0	0.0002	2.159e-05	1.658e-05	0.0002	2.629e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.922	0.02298	T	0.913	0.02934	T	0.848	0.46844	P	0.34	0.42389	B	.	.	.	.	0.573334	0.31160	N	0.42	0.12520	N	0.66	0.52416	T	-0.53	0.16393	N	0.528	0.55799	-1.0477	0.15045	T	0.064	0.26562	T	9	0.25368336	0.42738	T	0.012861	0.31797	T	0.097	0.27909	.	.	0.726013364819	0.72358	0.3036219225284016	0.30275	1.20472787136	0.80666	0.782425403595	0.79293	T	0.005218	0.04667	T	-0.258045	0.13130	T	-0.371772	0.36682	T	0.0907810581147731	0.11311	T	0.982802	0.94195	D	0.0954969	0.22477	0.094086155	0.22256	0.0954969	0.22477	0.094086155	0.22255	-9.58	0.71356	D	.	.	0.339	0.57098	B	.;.	.;.	3.412315	0.47344	22.4	0.82408664328984049	0.14176	0.35550	0.25328	N	AEFDBI	0.304110	0.41190	N	-0.440377925295116	0.24067	1.296945	-0.441386066417426	0.23794	1.299459	0.856751002709673	0.25148	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	3.29	0.36801	3.185000	0.50635	8.540000	0.77489	0.672000	0.70159	0.628000	0.27982	1.000000	0.68203	0.289000	0.24236	0.0:0.0:0.6258:0.3742	9.772	0.39763	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1942.83	144	chr19	35939891	.	G	A	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=437;ExcessHet=0;FS=4.011;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.953;SOR=0.42	GT:AD:DP:GQ:PL	0/1:73,71:144:99:1953,0,1906	5	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	375.06	82	chr19	37887093	.	A	G	375.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.746;DP=417;ExcessHet=0.4139;FS=157.6;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.25;SOR=6.664	GT:AD:DP:GQ:PL	0/1:67,15:82:99:152,0,2489	4	0	2	0
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	.	.	.	.	.	.	.	.	0.3	663.12	77	chr19	37887095	.	C	T	663.12	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.561;DP=401;ExcessHet=1.383;FS=244.01;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=1.13;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,5:77:92:.:.:92,0,2519:.	2	0	3	1
chr19	38905373	38905373	C	T	exonic	NFKBIB	.	nonsynonymous SNV	NFKBIB:NM_001243116:exon3:c.C199T:p.R67C,NFKBIB:NM_001369699:exon3:c.C457T:p.R153C,NFKBIB:NM_002503:exon3:c.C457T:p.R153C	.	427	1086	7	2	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00792533255063	0.0057	0.00199681	0.0054	0.0020	0.0024	0.0001	0.0006	0.0082	0.0035	0.0034	0.0054915	849	154602	rs201990071	0.0072	0.0072	0.0073	0.0071	0.0086	0.0071	0.0070	0.0085	0.0084	0.0010	0.0030	3.831e-05	0.0001	0.0015	0.0026	0.0086	0.0058	0.0036	0.0048	0.0048	0.0051	0.0044	0.0086	0.0045	0.0044	0.0081	0.0078	0.0013	0	0.0033	0	0.0002	0.0013	0.0034	0.0086	0.0043	0.0027	0.156	0.24090	T	0.163	0.33666	T	0.0	0.02946	B	0.0	0.01387	B	0.410372	0.13005	N	0.670270	1	0.08975	N	0.805	0.20218	L	0.8	0.59583	T	0.43	0.03297	N	0.186	0.20528	-1.0782	0.07701	T	0.047	0.20195	T	10	0.0037885904	0.00071	T	0.007925	0.21007	T	0.021	0.04004	.	.	0.31291088546	0.30898	0.45795172993525163	0.45713	0.427851054671	0.43120	0.294309914112	0.09555	T	0.004768	0.42235	T	-0.497833	0.00588	T	-0.479918	0.24455	T	0.00471026021418957	0.00050	T	.	.	.	0.04064636	0.05840	0.035131883	0.02707	0.04064636	0.05840	0.035131883	0.02707	-5.651	0.44522	T	.	.	0.073	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.608423	0.09770	6.535	0.94259048943309998	0.24538	0.04313	0.09865	N	AEFDBI	0.065662	0.12820	N	-1.44619014952615	0.02247	0.09900984	-1.48921808937713	0.02432	0.1118557	0.984704134519189	0.30761	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.36	-5.27	0.02551	-1.116000	0.03397	-2.466000	0.03719	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.0:0.3014:0.1411:0.5575	6.309	0.20362	636	0.64483	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.005102	0.002717	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	1835.83	142	chr19	38905373	.	C	T	1835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.49;DP=326;ExcessHet=0;FS=2.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.05;SOR=0.886	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1846,0,1752	5	0	1	0
chr19	39178466	39178466	C	G	exonic	PAK4	.	nonsynonymous SNV	PAK4:NM_001014834:exon8:c.C1204G:p.R402G,PAK4:NM_001014832:exon9:c.C1663G:p.R555G,PAK4:NM_001014835:exon9:c.C1204G:p.R402G,PAK4:NM_005884:exon10:c.C1663G:p.R555G,PAK4:NM_001014831:exon11:c.C1663G:p.R555G	.	396	1097	29	0	0	29	0.0130454	.	.	.	2808627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.416	.	0.0019	0.00139776	0.0041	0.0015	0.0022	0	0	0.0058	0.0161	0.0020	0.0020892	323	154602	rs56084716	0.0024	0.0023	0.0023	0.0024	0.0273	0.0023	0.0023	0.0238	0.0225	0.0016	0.0013	0.0078	0	0.0003	0.0273	0.0023	0.0036	0.0016	0.0018	0.0018	0.0017	0.0019	0.0028	0.0016	0.0016	0.0025	0.0023	0.0003	0	0.0012	0.0081	0.0002	0.0002	0.0374	0.0028	0.0024	0.0017	0.001	0.78490	D	0.082	0.63918	T	0.997	0.77913	D	0.986	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	2.51	0.14284	T	-6.98	0.93582	D	0.875	0.87265	-1.0922	0.05175	T	0.088	0.34050	T	10	0.0460169	0.03741	T	.	.	.	0.416	0.72631	.	.	0.89292114535	0.89186	0.7209852910754635	0.72041	0.946704540343	0.72437	0.690650701523	0.65800	T	0.473956	0.80560	T	-0.119471	0.33210	T	0.0528755	0.73773	D	0.054424238772923	0.06261	T	0.981502	0.93758	D	0.8771812	0.89437	0.762887	0.85992	0.8771812	0.89438	0.762887	0.85993	-15.532	0.97390	D	.	.	0.757	0.84738	P	.;.;.;.;.;.	.;.;.;.;.;.	4.602756	0.72918	25.9	0.9977591660497318	0.86346	0.95957	0.66890	D	AEFDBI	0.804904	0.72964	D	0.474850045455552	0.65625	4.846203	0.372894169578595	0.59898	4.17184	0.999998390443871	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	3.712000	0.54603	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.2039:0.7961:0.0:0.0	9.866	0.40309	504	0.75712	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	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.015152	0.021739	0.076023	0.050000	0.034483	0.012195	0.011364	0.08333	914.83	57	chr19	39178466	.	C	G	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.91;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.624;SOR=0.829	GT:AD:DP:GQ:PL	0/1:27,30:57:99:925,0,647	5	0	1	0
chr19	39830443	39830443	G	A	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon4:c.C304T:p.R102C,DYRK1B:NM_006483:exon4:c.C304T:p.R102C,DYRK1B:NM_006484:exon4:c.C304T:p.R102C	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	419	1101	2	0	0	2	0.000907441	.	.	YES	136541	not_provided|Abdominal_obesity-metabolic_syndrome_3	MedGen:C3661900|MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.690	0.0400236773592	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs367643250	1.437e-05	1.436e-05	9.529e-06	1.925e-05	2.236e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0	1.709e-05	0	1.159e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.114	0.29158	T	0.001	0.83351	D	0.997	0.73220	D	0.696	0.60170	P	0.000049	0.53742	D	0.072440	0.999936	0.51612	D	1.83	0.48079	L	2.02	0.21119	T	-5.6	0.87380	D	0.899	0.89912	-1.1083	0.03219	T	0.083	0.32440	T	10	0.79784906	0.79232	D	0.040024	0.59144	D	0.690	0.88726	.	.	0.56167646926	0.55829	0.5384054871733418	0.53765	1.30891436969	0.83166	0.703474402428	0.67647	T	0.449922	0.79123	T	-0.119689	0.33176	T	-0.346056	0.39656	T	0.973750233650208	0.70225	D	.	.	.	0.22475982	0.45124	0.19818829	0.43639	0.14019102	0.32354	0.17274271	0.39550	-6.864	0.53033	T	.	.	0.226	0.54732	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.354626	0.95070	34	0.99879226391330078	0.95572	0.84537	0.43619	D	AEFBI	0.369762	0.45638	N	0.513286440524933	0.67875	5.140339	0.499484559615767	0.67957	5.15405	0.999858566858047	0.44174	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	4.720000	0.61636	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.7965:0.2035	9.931	0.40690	642	0.63909	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1266.83	113	chr19	39830443	.	G	A	1266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.466;DP=297;ExcessHet=0;FS=1.493;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.671;SOR=0.842	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1277,0,1632	5	0	1	0
chr19	39878179	39878179	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon21:c.G8926A:p.A2976T	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00125716582037	.	0.00139776	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs200976557	6.682e-05	0.0004	6.706e-05	6.658e-05	0.0016	5.478e-05	5.01e-05	0.0012	0.0011	0.0005	0.0016	0	0.0002	0	0	3.145e-06	9.132e-05	1.203e-05	0.0011	0.0040	0.0009	0.0012	0.0093	0.0009	0.0009	0.0080	0.0075	0.0005	0	0.0093	0	0.0002	0	0	2.94e-05	0.0019	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	.	.	.	.	.	.	.	.	0.08333	256.83	442	chr19	39878179	.	C	T	256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.314;DP=651;ExcessHet=0;FS=2.982;MLEAC=1;MLEAF=0.083;MQ=54.61;MQRankSum=-12.32;QD=0.58;ReadPosRankSum=0.101;SOR=1.059	GT:AD:DP:GQ:PL	0/1:388,54:442:99:267,0,11904	5	0	1	0
chr19	40880242	40880242	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon3:c.G343A:p.A115T,CYP2A7:NM_000764:exon4:c.G496A:p.A166T	.	3	1500	18	1	0	20	0.00662252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0002	0.00379393	0.0021	0	0.0002	0	0	0.0004	0	0.0137	0.0017852	276	154602	rs143990356	0.0008	0.0008	0.0006	0.0011	0.0115	0.0008	0.0008	0.0109	0.0107	2.987e-05	4.475e-05	0	2.519e-05	0	0.0023	0.0001	0.0013	0.0115	0.0004	0.0004	0.0002	0.0006	0.0113	0.0003	0.0003	0.0089	0.0080	0	0	6.597e-05	0	0.0004	0	0	0.0001	0.0005	0.0113	0.14	0.27194	T	0.455	0.14158	T	0.053	0.25827	B	0.015	0.19346	B	0.945117	0.07619	U	1.028510	1	0.08975	N	1.39	0.34934	L	-0.38	0.69027	T	-0.62	0.23808	N	0.128	0.22228	-0.9832	0.34258	T	0.141	0.46016	T	10	0.003222108	0.00055	T	.	.	.	0.030	0.07022	.	.	0.485493271093	0.48183	0.3520254561427944	0.35116	0.0759756441061	0.08528	0.340956419706	0.16581	T	0.001625	0.01056	T	-0.489711	0.00652	T	-0.465182	0.26036	T	0.0125051458302619	0.00207	T	0.182482	0.12115	T	0.095246956	0.22411	0.11503972	0.27771	0.095246956	0.22410	0.11503972	0.27770	-5.057	0.37452	T	.	.	0.068	0.03925	B	.;.	.;.	1.153011	0.15411	11.83	0.96705737958072191	0.30792	0.01496	0.04962	N	AEFBI	0.108277	0.21546	N	-1.08440412834534	0.06930	0.3204331	-1.14025757527891	0.06943	0.3360026	5.09753424684015E-4	0.07176	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	2.2	1.11	0.19640	-0.466000	0.06749	.	.	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.8373:0.0:0.1627	6.288	0.20249	561	0.71236	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002643	0.000000	0.001359	0.004098	0.000000	0.008621	0.003049	0.007576	0.08333	1405.83	93	chr19	40880242	.	C	T	1405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.67;MQRankSum=0.6;QD=15.12;ReadPosRankSum=-2.055;SOR=0.671	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1416,0,1131	5	0	1	0
chr19	41121961	41121961	A	G	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon6:c.A650G:p.Y217C	.	.	.	.	.	.	.	.	.	.	.	2248816	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0724173823756	.	.	0.0001	0.0002	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs752564525	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	2.236e-05	3.828e-05	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.284e-05	0	6.618e-05	0	0	0	0	0.0004	0	0	0.313	0.13879	T	0.158	0.31629	T	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	U	0.000000	0.998243	0.44674	D	1.92	0.51302	L	-0.4	0.69287	T	-4.35	0.76900	D	0.635	0.64818	-0.7110	0.59903	T	0.277	0.64855	T	10	0.8580525	0.85011	D	0.072417	0.71527	D	0.458	0.75619	.	.	0.807811565839	0.80600	0.5061773142423096	0.50539	1.19649967505	0.80419	0.652720451355	0.60372	T	0.030391	0.21555	T	-0.156256	0.27338	T	-0.163291	0.58055	T	0.326333224773407	0.26076	T	0.549145	0.18877	T	0.46432424	0.64940	0.39757454	0.64369	0.46432424	0.64941	0.39757454	0.64369	-5.916	0.45571	T	.	.	0.201	0.42491	B	.	.	2.788871	0.36656	20.3	0.92665573178522587	0.22147	0.83069	0.42218	D	AEFDGBI	0.389655	0.46879	N	-0.258006400444776	0.30784	1.719813	-0.361008467641228	0.26170	1.44379	0.0219318466831119	0.13390	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.21	2.14	0.26518	3.654000	0.54193	3.258000	0.37072	-0.647000	0.04405	0.999000	0.42656	0.544000	0.25431	0.170000	0.20979	0.5543:0.2263:0.0:0.2194	3.772	0.08168	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2166.83	123	chr19	41121961	.	A	G	2166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.7;MQRankSum=-2.157;QD=17.62;ReadPosRankSum=0.234;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,57:123:99:0|1:41121961_A_G:2177,0,2579:41121961	5	0	1	0
chr19	41121962	41121962	C	A	exonic	CYP2F1	.	stopgain	CYP2F1:NM_000774:exon6:c.C651A:p.Y217X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs147516459	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	2.236e-05	3.828e-05	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.269e-05	0	6.612e-05	0	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.739	0.73916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310651	0.83794	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.377793	0.95110	34	0.99253697625906023	0.56957	0.71679	0.35117	D	AEFDGBI	0.184136	0.31146	N	0.108106606197432	0.46841	2.918362	-0.180914930243559	0.32238	1.832175	0.0179509349549075	0.13006	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.04	1.98	0.25351	1.135000	0.31067	-0.154000	0.11389	0.262000	0.18416	0.729000	0.28913	0.005000	0.19230	0.174000	0.21107	0.0:0.6226:0.2375:0.1398	4.296	0.10348	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2166.83	123	chr19	41121962	.	C	A	2166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.44;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54;MQRankSum=-2.157;QD=17.62;ReadPosRankSum=0.588;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,57:123:99:0|1:41121961_A_G:2177,0,2579:41121961	5	0	1	0
chr19	44157821	44157821	G	A	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.G1805A:p.G602E,ZNF234:NM_006630:exon6:c.G1805A:p.G602E	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	0.0043	0.00319489	0.0036	0.0012	0.0025	0	0	0.0045	0.0121	0.0049	0.0036093	558	154602	rs149435176	0.0047	0.0047	0.0046	0.0047	0.0121	0.0046	0.0045	0.0099	0.0090	0.0006	0.0041	0.0099	0.0001	0.0001	0.0121	0.0049	0.0058	0.0060	0.0041	0.0041	0.0039	0.0043	0.0122	0.0038	0.0037	0.0108	0.0102	0.0008	0.0044	0.0122	0.0092	0.0002	0	0.0034	0.0046	0.0090	0.0066	0.001	0.78490	D	0.033	0.53072	D	0.999	0.77913	D	0.945	0.68163	D	.	.	.	.	0.666396	0.30403	N	1.82	0.47800	L	5.15	0.01198	T	-6.52	0.91695	D	0.242	0.27792	-0.9626	0.38684	T	0.007	0.02439	T	9	0.008609742	0.00195	T	.	.	.	0.150	0.39571	.	.	0.640596862887	0.63763	0.02558227169903966	0.02509	0.555957012461	0.52279	0.514309108257	0.40825	T	0.039536	0.25223	T	-0.525658	0.00407	T	-0.526619	0.19626	T	0.0496350610517793	0.05435	T	0.709329	0.31993	T	0.08321849	0.19207	0.16898772	0.38899	0.08321849	0.19207	0.16898772	0.38899	-7.388	0.56820	T	.	.	0.466	0.62965	A	.;.	.;.	3.781642	0.54376	23.5	0.99485249485998195	0.67124	0.95253	0.64007	D	AEFGBI	0.272128	0.38783	N	0.0977414321944209	0.46358	2.877324	0.0400763745502736	0.41594	2.501572	0.0785899662676329	0.15793	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.11	1.89	0.24700	1.700000	0.37434	.	.	0.591000	0.32079	0.978000	0.35038	0.003000	0.18671	0.904000	0.43992	0.189:0.1665:0.6444:0.0	5.647	0.16873	856	0.34373	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	0.010070	0.005051	0.012228	0.002924	0.000000	0.017241	0.009146	0.011364	0.08333	1199.83	100	chr19	44157821	.	G	A	1199.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=298;ExcessHet=0;FS=6.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.808;SOR=0.575	GT:AD:DP:GQ:PL	0/1:57,43:100:99:1210,0,1651	5	0	1	0
chr19	44174996	44174996	T	A	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032374:exon6:c.T248A:p.V83E,ZNF226:NM_015919:exon6:c.T248A:p.V83E,ZNF226:NM_001146220:exon7:c.T248A:p.V83E	.	422	1085	14	1	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0047	0.00319489	0.0036	0.0012	0.0025	0	0	0.0045	0.0123	0.0049	0.0036351	562	154602	rs2232803	0.0047	0.0047	0.0046	0.0047	0.0121	0.0046	0.0045	0.0099	0.0090	0.0006	0.0040	0.0097	0.0001	0.0001	0.0121	0.0049	0.0058	0.0059	0.0041	0.0041	0.0039	0.0043	0.0122	0.0038	0.0037	0.0107	0.0102	0.0008	0.0044	0.0122	0.0092	0.0002	0	0.0034	0.0046	0.0085	0.0064	0.06	0.37326	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.36	0.01050	T	2.88	0.00158	N	0.176	0.24385	-0.9226	0.45196	T	0.001	0.00378	T	8	0.004873574	0.00104	T	.	.	.	0.045	0.12272	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.610416	0.00126	T	-0.648643	0.09049	T	0.00222173242865648	0.00023	T	0.236476	0.03296	T	.	.	.	.	.	.	.	.	-2.661	0.06981	T	.	.	0.107	0.19998	B	.;.;.	.;.;.	0.909791	0.12842	9.355	0.78260449833205614	0.12224	0.00835	0.03355	N	AEFBI	0.029797	0.02878	N	-1.06050333155874	0.07382	0.3428035	-1.10556042351001	0.07593	0.3699606	0.00184851693833618	0.08939	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.74	0.59	0.16642	-0.430000	0.07043	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.762000	0.36218	0.2529:0.1464:0.0:0.6007	2.165	0.03599	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.014946	0.002924	0.000000	0.017241	0.012195	0.011364	0.08333	1744.83	135	chr19	44174996	.	T	A	1744.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=315;ExcessHet=0;FS=7.753;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.687;SOR=1.296	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1755,0,1524	5	0	1	0
chr19	44176335	44176335	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C1073T:p.T358M,ZNF226:NM_001032373:exon6:c.C1073T:p.T358M,ZNF226:NM_001319088:exon6:c.C1073T:p.T358M,ZNF226:NM_001319090:exon6:c.C1073T:p.T358M,ZNF226:NM_001319089:exon7:c.C1073T:p.T358M,ZNF226:NM_016444:exon7:c.C1073T:p.T358M	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0045	0.00379393	0.0037	0.0019	0.0025	0.0001	0	0.0045	0.0121	0.0052	0.0037257	576	154602	rs116865890	0.0047	0.0047	0.0047	0.0048	0.0121	0.0046	0.0046	0.0099	0.0090	0.0011	0.0042	0.0099	0.0002	0.0001	0.0121	0.0049	0.0059	0.0061	0.0042	0.0042	0.0040	0.0045	0.0123	0.0040	0.0039	0.0108	0.0103	0.0013	0.0044	0.0123	0.0092	0.0004	0	0.0034	0.0046	0.0090	0.0073	0.149	0.24758	T	0.084	0.41239	T	0.885	0.48692	P	0.328	0.42011	B	0.317182	0.14333	N	0.520101	1	0.81001	D	2.455	0.71248	M	1.74	0.26301	T	-3.03	0.62747	D	0.18	0.24010	-1.0450	0.15825	T	0.049	0.20987	T	10	0.006604761	0.00150	T	.	.	.	0.088	0.25558	.	.	0.60528088242	0.60212	0.06866705998577231	0.06804	0.0584859789549	0.06482	0.425830125809	0.28638	T	0.203985	0.56262	T	-0.543623	0.00319	T	-0.552149	0.17120	T	0.0336296393407075	0.02576	T	0.50225	0.15758	T	0.040152483	0.05677	0.063670464	0.12647	0.040152483	0.05676	0.063670464	0.12646	-6.895	0.53262	T	.	.	0.105	0.19276	B	.;.;.	.;.;.	1.405092	0.18197	13.60	0.96833998131611199	0.31274	0.43108	0.27025	N	AEFBCI	0.129891	0.24824	N	-0.0700234969336631	0.38711	2.271578	-0.166004825448359	0.32795	1.869475	0.0129552746672266	0.12397	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.28	3.23	0.36150	-1.046000	0.03635	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.1668:0.7408:0.0:0.0923	7.337	0.25791	906	0.23090	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	0.012085	0.005051	0.013587	0.005848	0.000000	0.017241	0.012195	0.011364	0.08333	2427.83	175	chr19	44176335	.	C	T	2427.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=358;ExcessHet=0;FS=3.456;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.161;SOR=0.959	GT:AD:DP:GQ:PL	0/1:84,91:175:99:2438,0,2073	5	0	1	0
chr19	44907908	44907908	G	C	exonic	APOE	.	nonsynonymous SNV	APOE:NM_000041:exon3:c.G192C:p.Q64H,APOE:NM_001302688:exon3:c.G270C:p.Q90H,APOE:NM_001302689:exon3:c.G192C:p.Q64H,APOE:NM_001302690:exon3:c.G192C:p.Q64H,APOE:NM_001302691:exon3:c.G192C:p.Q64H	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	2677359	not_provided|Cardiovascular_phenotype|APOE-related_disorder	MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.655	0.0787956251298	7.7e-05	0.000399361	0.0002	0	0	0.0013	0	3.067e-05	0	0.0003	0.0001294	20	154602	rs370594287	4.858e-05	4.857e-05	4.084e-05	5.639e-05	0.0007	3.927e-05	3.605e-05	0.0005	0.0004	0	0	0	0.0007	0	0.0002	2.698e-06	0.0002	0.0003	6.565e-05	6.561e-05	5.139e-05	8.056e-05	0.0014	3.514e-05	2.614e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0006	0.14	0.38863	T	0.014	0.62352	D	0.99	0.63424	D	0.518	0.48133	P	0.264289	0.15253	N	0.578119	0.917243	0.27376	N	2.83	0.82355	M	-1.54	0.81640	D	-2.36	0.52128	N	0.705	0.70878	-0.3797	0.72660	T	0.467	0.79433	T	10	0.12099835	0.22929	T	0.078796	0.73088	D	0.655	0.87035	0.864	0.95995	0.918300594365	0.91748	0.2836043192904678	0.28273	1.10089243927	0.77722	0.310065686703	0.11918	T	0.40592	0.76196	T	-0.119734	0.33167	T	-0.00111337	0.70264	D	0.123126707871081	0.14732	T	0.813419	0.46649	T	0.23451038	0.46272	0.1373287	0.32829	0.27863437	0.50916	0.22806028	0.47834	-5.586	0.42664	T	0.6347371991687236	0.70460	0.268	0.55822	B	.;.;.;.	.;.;.;.	2.914632	0.38671	20.8	0.99634290507360523	0.76264	0.36482	0.25543	N	AEFBCI	0.739999	0.68438	D	0.181843967164138	0.50327	3.223797	0.100476903651876	0.44574	2.736485	0.985701762262027	0.30934	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.604944	0.38103	0	.	.	4.85	0.982	0.18881	0.222000	0.17482	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.969000	0.54022	0.0:0.409:0.4295:0.1615	7.708	0.27829	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	406.83	55	chr19	44907908	.	G	C	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.801;DP=216;ExcessHet=0;FS=4.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.097;SOR=1.501	GT:AD:DP:GQ:PL	0/1:36,19:55:99:417,0,1042	5	0	1	0
chr19	44919220	44919220	T	C	exonic	APOC1	.	nonsynonymous SNV	APOC1:NM_001321065:exon4:c.T242C:p.I81T,APOC1:NM_001645:exon4:c.T242C:p.I81T,APOC1:NM_001321066:exon5:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00403512773978	.	.	4.136e-05	9.694e-05	8.67e-05	0	0	4.514e-05	0	0	3.84e-05	1	26028	rs773222722	1.232e-05	1.368e-05	8.169e-06	1.65e-05	8.947e-05	7.7e-06	6.35e-06	2.985e-05	1.804e-05	0	8.947e-05	0	0	0	0	1.079e-05	0	2.319e-05	1.972e-05	1.97e-05	0	4.036e-05	6.552e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.552e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	1.09	0.39223	T	.	.	.	0.045	0.01740	-1.0026	0.29168	T	0.055	0.23262	T	8	0.059755147	0.07234	T	0.004035	0.09587	T	.	.	0.387	0.40788	0.39619538035	0.39233	0.01778409292936426	0.01733	0.606671787836	0.55507	0.428657531738	0.29026	T	0.149268	0.48819	T	-0.507219	0.00521	T	-0.784834	0.02311	T	0.0564541741231852	0.06598	T	0.457954	0.13172	T	0.21111053	0.43427	0.22075379	0.46862	0.21111053	0.43427	0.22075379	0.46861	-2.988	0.10052	T	.	.	0.066	0.02458	B	.;.	.;.	-0.425472	0.02119	0.201	0.98131502854951402	0.38522	0.00278	0.01504	N	AEFDBHCI	0.091441	0.18521	N	-1.25578336273398	0.04224	0.1902162	-1.42697506955809	0.02985	0.1383887	0.830985606575357	0.24693	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.54	-5.09	0.02699	-0.708000	0.05138	.	.	0.583000	0.30283	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1702:0.24:0.3361:0.2537	0.857	0.01110	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	925.83	78	chr19	44919220	.	T	C	925.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.324;DP=248;ExcessHet=0;FS=4.389;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-1.924;QD=11.87;ReadPosRankSum=-1.146;SOR=0.98	GT:AD:DP:GQ:PL	0/1:37,41:78:99:936,0,890	5	0	1	0
chr19	48195497	48195497	G	C	exonic	ZSWIM9	.	nonsynonymous SNV	ZSWIM9:NM_199341:exon4:c.G1433C:p.G478A	.	384	1129	9	0	0	9	0.00397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00840702211268	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772914578	2.853e-05	2.668e-05	2.307e-05	3.433e-05	0.0003	2.088e-05	1.853e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.271e-05	7.617e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.0	0.92824	D	0.087	0.24971	B	0.029	0.21540	B	0.000679	0.42516	D	0.000000	0.999988	0.18198	N	.	.	.	.	.	.	-1.55	0.37566	N	0.171	0.18239	-0.9399	0.42632	T	0.122	0.42336	T	9	0.09736374	0.17529	T	0.008407	0.22257	T	0.037	0.09474	0.227	0.15257	0.0297737177859	0.01360	0.11290752725570026	0.11218	.	.	.	.	.	0.027618	0.20184	T	-0.335026	0.05740	T	-0.482349	0.24198	T	0.053685396977971	0.06135	T	0.593441	0.21910	T	0.068843395	0.15034	0.0793968	0.17871	0.068843395	0.15033	0.0793968	0.17871	-6.164	0.47631	T	.	.	0.081	0.19720	B	.;.	.;.	2.006561	0.25495	16.78	0.98462141454685259	0.41757	0.63595	0.32138	D	AEFDBCI	0.057265	0.10653	N	-0.572747423224815	0.19776	1.03766	-0.62676311743761	0.18806	1.006275	0.0528052404720527	0.14918	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.55	1.3	0.20778	1.670000	0.37118	1.324000	0.25623	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.005000	0.06747	0.0:0.3374:0.6626:0.0	11.342	0.48776	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	0	0	.	.	.	.	.	.	.	.	0.08333	1097.83	80	chr19	48195497	.	G	C	1097.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.339;DP=243;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.81;SOR=0.589	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1108,0,1012	5	0	1	0
chr19	48881122	48881124	TTC	-	exonic	TULP2	.	nonframeshift deletion	TULP2:NM_003323:exon13:c.1450_1452del:p.E484del	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs766208567	0.0002	0.0002	7.886e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	1.824e-06	6.803e-05	0.0025	4.654e-05	4.624e-05	5.189e-05	4.092e-05	0.0015	2.132e-05	1.541e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1587.79	67	chr19	48881121	.	GTTC	G	1587.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.756;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.7;ReadPosRankSum=-0.102;SOR=0.731	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1598,0,993	5	0	1	0
chr19	49652125	49652125	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1736C:p.R579P	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.257635767119	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167768144	2.156e-05	2.059e-05	1.984e-05	2.341e-05	0.0005	1.385e-05	1.176e-05	0.0002	0.0001	0	0	0	0	0	0.0005	3.555e-06	0.0001	0.0003	1.391e-05	1.354e-05	1.354e-05	1.431e-05	0.0002	2.31e-06	8.7e-07	.	.	0	0	0	0	0	0	0	1.529e-05	0	0.0002	0.052	0.39097	T	0.356	0.17166	T	0.993	0.65571	D	0.505	0.47795	P	0.004977	0.33218	U	0.000000	0.999999	0.08975	N	0.975	0.24501	L	1.22	0.37052	T	-1.26	0.31778	N	0.405	0.44570	-1.0816	0.07041	T	0.051	0.21883	T	9	0.17090374	0.31779	T	0.257636	0.89377	D	0.116	0.32463	0.222	0.14518	0.0675242888579	0.06100	0.2137630445091126	0.21292	0.910846395249	0.71054	0.919822871685	0.98310	D	0.043342	0.26471	T	-0.161916	0.26466	T	-0.470358	0.25479	T	0.312102466821671	0.25500	T	0.327867	0.06820	T	0.3714667	0.58693	0.29650822	0.55683	0.3714667	0.58693	0.29650822	0.55683	-6.317	0.48856	T	.	.	0.151	0.33504	B	.	.	2.008341	0.25515	16.79	0.61948752472958823	0.06838	0.01511	0.04995	N	AEFDBI	0.057491	0.10712	N	-0.614253171945494	0.18515	0.9619042	-0.780191695882917	0.14981	0.7856017	0.50430562352623	0.20968	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	1.8	1.8	0.24069	0.437000	0.21261	9.631000	0.81127	0.489000	0.22316	0.010000	0.18352	1.000000	0.68203	0.076000	0.17014	0.3508:0.0:0.6492:0.0	4.055	0.09294	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002941	0.007937	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	260.18	25	chr19	49652125	.	G	C	260.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.321;DP=77;ExcessHet=0;FS=3.682;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.07;SOR=1.152	GT:AD:DP:GQ:PL	0/1:14,11:25:99:270,0,336	5	0	1	0
chr19	50716742	50716742	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon2:c.C178T:p.R60C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0500048798586	.	.	2.552e-05	0	0	0	0	4.6e-05	0	0	1.94e-05	3	154602	rs753526209	8.246e-06	8.893e-06	5.466e-06	1.106e-05	3.021e-05	4.4e-06	3.47e-06	5.32e-06	3.89e-06	3.021e-05	0	0	0	0	0	9.919e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.028	0.54934	D	1.0	0.90584	D	0.749	0.56004	P	0.485112	0.12121	U	0.580848	0.99667	0.43346	D	1.95	0.52479	M	1.16	0.39990	T	-3.89	0.72820	D	0.699	0.72388	-1.0611	0.11483	T	0.108	0.39197	T	10	0.56088513	0.64781	D	0.050005	0.64057	D	0.242	0.54781	0.423	0.46693	0.458321483586	0.45457	0.8860554725361093	0.88574	1.88169425926	0.92614	0.809607505798	0.83432	D	0.352375	0.71982	T	-0.0818675	0.39410	T	-0.245315	0.50278	T	0.882105588912964	0.53220	D	0.923508	0.72088	D	0.22091544	0.44657	0.23939824	0.49287	0.22091544	0.44657	0.23939824	0.49286	-5.288	0.40308	T	.	.	0.197	0.41888	B	.;.;.	.;.;.	4.688145	0.75090	26.3	0.99796673380073786	0.88194	0.73789	0.36093	D	AEFBI	0.419109	0.48647	N	0.168673184488479	0.49699	3.167353	0.152867591026258	0.47295	2.961809	0.923269733421468	0.26737	0.516011	0.20929	0	0.563428	0.19063	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	3.21	3.21	0.35933	3.397000	0.52317	8.271000	0.76889	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.783:0.217	9.224	0.36554	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	.	.	.	.	.	.	.	.	0.08333	922.83	80	chr19	50716742	.	G	A	922.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.137;DP=258;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.067;SOR=0.514	GT:AD:DP:GQ:PL	0/1:40,40:80:99:933,0,910	5	0	1	0
chr19	54337505	54337505	T	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.A847G:p.S283G	.	2	1517	3	0	0	3	0.000987817	.	.	.	2301190	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00239449311364	.	.	0.0003	0.0004	0.0003	0.0003	0	0.0002	0	0.0005	0.0002329	36	154602	rs769780480	0.0002	0.0008	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.838e-05	0.0003	0	0.0006	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0	0	0	0.0003	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.007074	0.01153	N	2.682150	1	0.08975	N	.	.	.	2.6	0.13204	T	3.21	0.00114	N	0.102	0.08506	-0.9726	0.36648	T	0.013	0.05081	T	10	0.026920617	0.00848	T	0.002394	0.04673	T	0.105	0.29889	.	.	0.0138822411134	0.00435	0.14075681419015865	0.13998	0.0689711417627	0.07720	0.307548761368	0.11537	T	.	.	.	-0.666024	0.00058	T	-0.885606	0.00609	T	0.00421839075956723	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01092	B	.	.	-1.148357	0.00585	0.015	0.18762156434432581	0.00604	0.00025	0.00253	N	AEFDBI	0.018206	0.00534	N	-1.78807306419027	0.00575	0.02476665	-1.74547076451873	0.00950	0.04255185	8.51954910628988E-5	0.04703	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.69	0.487	0.16050	-1.049000	0.03625	.	.	-4.018000	0.00046	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8468:0.0:0.1532	7.790	0.28280	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	0.001070	0.000000	0.000000	0.004098	0.000000	0.000000	0.003125	0.000000	0.08333	672.83	54	chr19	54337505	.	T	C	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=292;ExcessHet=0;FS=2.273;MLEAC=1;MLEAF=0.083;MQ=58.79;MQRankSum=-2.117;QD=12.46;ReadPosRankSum=0.996;SOR=1.04	GT:AD:DP:GQ:PL	0/1:28,26:54:99:683,0,734	5	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	.	.	.	.	.	.	.	.	0.08333	1231.83	431	chr19	54739533	.	C	A	1231.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.475;DP=927;ExcessHet=0;FS=2.315;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=0.868;QD=2.86;ReadPosRankSum=-0.133;SOR=0.477	GT:AD:DP:GQ:PL	0/1:349,82:431:99:1242,0,10652	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1758.83	269	chr19	54752378	.	A	T	1758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.251;DP=1123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.62;MQRankSum=-15.59;QD=6.54;ReadPosRankSum=1.21;SOR=0.71	GT:AD:DP:GQ:PL	0/1:177,92:269:99:1769,0,5189	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2401.83	321	chr19	54752434	.	G	C	2401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.156;DP=1173;ExcessHet=0;FS=22.174;MLEAC=1;MLEAF=0.083;MQ=56.4;MQRankSum=-17.36;QD=7.48;ReadPosRankSum=1.37;SOR=1.163	GT:AD:DP:GQ:PL	0/1:232,89:321:99:2412,0,6533	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2821.83	309	chr19	54752445	.	C	T	2821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.018;DP=1164;ExcessHet=0;FS=24.987;MLEAC=1;MLEAF=0.083;MQ=56.61;MQRankSum=-17.03;QD=9.13;ReadPosRankSum=0.214;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,84:309:99:0|1:54752445_C_T:2832,0,9104:54752445	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1409.83	287	chr19	54752485	.	T	C	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.18;DP=572;ExcessHet=0;FS=50.471;MLEAC=1;MLEAF=0.083;MQ=56.87;MQRankSum=-16.81;QD=4.91;ReadPosRankSum=-0.701;SOR=3.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,51:287:99:0|1:54752482_T_C:1420,0,9711:54752482	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	887.83	255	chr19	54752511	.	G	A	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.54;DP=543;ExcessHet=0;FS=51.905;MLEAC=1;MLEAF=0.083;MQ=57.35;MQRankSum=-15.88;QD=3.48;ReadPosRankSum=-1.753;SOR=4.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,37:255:99:0|1:54752511_G_A:898,0,8965:54752511	5	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	331.83	305	chr19	54760643	.	A	G	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=619;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.5;MQRankSum=-5.697;QD=1.09;ReadPosRankSum=-4.027;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,28:305:99:0|1:54760643_A_G:342,0,11343:54760643	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	370.83	307	chr19	54760651	.	G	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.464;DP=622;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.8;MQRankSum=-6.006;QD=1.21;ReadPosRankSum=-2.486;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,29:307:99:0|1:54760643_A_G:381,0,11525:54760643	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	556.83	305	chr19	54760665	.	T	C	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.286;DP=620;ExcessHet=0;FS=0.7;MLEAC=1;MLEAF=0.083;MQ=54.5;MQRankSum=-6.894;QD=1.83;ReadPosRankSum=-0.673;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,33:305:99:0|1:54760643_A_G:567,0,11322:54760643	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	610.83	287	chr19	54760676	.	T	A	610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.02;DP=602;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.69;MQRankSum=-8.093;QD=2.13;ReadPosRankSum=1.31;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,33:287:99:0|1:54760643_A_G:621,0,10566:54760643	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	646.83	275	chr19	54760692	.	A	G	646.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.064;DP=462;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.07;MQRankSum=-8.808;QD=2.35;ReadPosRankSum=3.46;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,33:275:99:0|1:54760643_A_G:657,0,10040:54760643	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	652.83	273	chr19	54760695	.	T	C	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.526;DP=463;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.08;MQRankSum=-8.757;QD=2.39;ReadPosRankSum=3.88;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,33:273:99:0|1:54760643_A_G:663,0,9956:54760643	5	0	1	0
chr19	54763902	54763902	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon5:c.A676C:p.N226H	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000393349960663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	4.173e-05	1.363e-06	5.505e-06	5.808e-05	1e-06	7.3e-07	2.197e-05	1.432e-05	0	0	0	0	0	0	0	0	5.808e-05	6.601e-06	6.568e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.08333	313.83	655	chr19	54763902	.	A	C	313.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.611;DP=1287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=50.9;MQRankSum=-0.722;QD=0.48;ReadPosRankSum=-1.863;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:602,53:655:99:0|1:54763902_A_C:324,0,24628:54763902	5	0	1	0
chr19	54763914	54763914	T	G	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon5:c.T688G:p.S230A	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000684018446712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.97e-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	.	.	.	.	.	.	.	.	0.08333	419.83	685	chr19	54763914	.	T	G	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=1325;ExcessHet=0;FS=2.183;MLEAC=1;MLEAF=0.083;MQ=51.11;MQRankSum=-1.533;QD=0.61;ReadPosRankSum=0.015;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:624,61:685:99:0|1:54763902_A_C:430,0,25451:54763902	5	0	1	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	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	.	.	.	.	.	.	.	.	0.08333	47.83	474	chr19	54767342	.	T	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=669;ExcessHet=0;FS=1.106;MLEAC=1;MLEAF=0.083;MQ=58.53;MQRankSum=-21.42;QD=0.1;ReadPosRankSum=-1.224;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:441,33:474:58:0|1:54767339_G_A:58,0,18373:54767339	5	0	1	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	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	745.83	639	chr19	54773510	.	C	G	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=869;ExcessHet=0;FS=10.441;MLEAC=1;MLEAF=0.083;MQ=58.33;MQRankSum=-18.41;QD=1.17;ReadPosRankSum=4.58;SOR=2.026	GT:AD:DP:GQ:PL	0/1:579,60:639:99:756,0,19199	5	0	1	0
chr19	54778623	54778623	A	C	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.A676C:p.N226H,KIR2DL1:NM_014218:exon5:c.A676C:p.N226H,KIR2DL2:NM_014219:exon5:c.A676C:p.N226H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00151694013669	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878909395	0.0002	0.0007	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	6.174e-05	0	0	0	0	0.0004	2.774e-06	0.0002	0.0041	0.0005	0.0007	0.0003	0.0007	0.0163	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0	0	0	1.521e-05	0	0.0163	0.032	0.46129	D	0.068	0.44106	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	7.2	0.00437	T	-1.71	0.40660	N	0.135	0.14480	-0.9464	0.41582	T	0.002	0.00497	T	8	0.007816225	0.00177	T	0.001517	0.02369	T	0.086	0.25016	0.202	0.11659	0.210429274316	0.20668	0.05328788543094235	0.05270	2.46387727901	0.97434	0.387758374214	0.23353	T	0.02304	0.17656	T	-0.241123	0.15206	T	-0.584133	0.14177	T	0.165323646165335	0.18256	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	0.676890	0.10455	7.172	0.90949609105773266	0.20198	0.00298	0.01590	N	AEFBI	0.037202	0.05080	N	-1.25996812375637	0.04169	0.1876777	-1.47659125624119	0.02537	0.1168652	4.3534079721304E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.824	0.10266	1.149000	0.31238	.	.	-0.361000	0.05505	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1324.83	290	chr19	54778623	.	A	C	1324.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.036;DP=547;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=48.8;MQRankSum=-5.195;QD=4.57;ReadPosRankSum=-0.738;SOR=0.817	GT:AD:DP:GQ:PL	0/1:225,65:290:99:1335,0,6614	5	0	1	0
chr19	54778635	54778635	T	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.T688G:p.S230A,KIR2DL1:NM_014218:exon5:c.T688G:p.S230A,KIR2DL2:NM_014219:exon5:c.T688G:p.S230A	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00119571320954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs556830915	0.0003	0.0007	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	3.087e-05	0	0	0	0	0.0004	9.246e-07	0.0002	0.0042	0.0005	0.0007	0.0003	0.0007	0.0167	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	1.521e-05	0	0.0167	0.0	0.91255	D	0.222	0.25748	T	0.937	0.52445	P	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	7.15	0.00440	T	-1.21	0.35597	N	0.126	0.13769	-0.9477	0.41364	T	0.003	0.00864	T	8	0.013478994	0.00286	T	0.001196	0.01533	T	0.030	0.07022	0.301	0.26843	0.393927044628	0.39002	0.03714688347856771	0.03661	1.75585914569	0.91042	0.386773377657	0.23213	T	0.022783	0.17502	T	-0.217446	0.18342	T	-0.550122	0.17315	T	0.18637554833915	0.19628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13127	B	.;.	.;.	1.705097	0.21718	15.32	0.90821795015436779	0.20070	0.00184	0.01074	N	AEFBI	0.037914	0.05286	N	-0.64319559175856	0.17659	0.9105616	-0.965880461190126	0.10557	0.5324558	2.02422257672135E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.842	0.10204	-0.430000	0.07043	.	.	0.421000	0.20799	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1327.83	309	chr19	54778635	.	T	G	1327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.06;DP=570;ExcessHet=0;FS=3.218;MLEAC=1;MLEAF=0.083;MQ=48.85;MQRankSum=-5.498;QD=4.3;ReadPosRankSum=-0.84;SOR=0.939	GT:AD:DP:GQ:PL	0/1:244,65:309:99:1338,0,7951	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	637.83	263	chr19	54805015	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.599;DP=444;ExcessHet=0;FS=7.3;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=-11.06;QD=2.43;ReadPosRankSum=-1.064;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,32:263:99:0|1:54805010_A_G:648,0,9581:54805010	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	754.83	269	chr19	54805016	.	T	A	754.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.055;DP=450;ExcessHet=0;FS=8.344;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-10.64;QD=2.81;ReadPosRankSum=-0.946;SOR=1.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,35:269:99:0|1:54805010_A_G:765,0,9698:54805010	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1030.83	267	chr19	54805024	.	A	G	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.902;DP=448;ExcessHet=0;FS=5.077;MLEAC=1;MLEAF=0.083;MQ=59.19;MQRankSum=-10.59;QD=3.86;ReadPosRankSum=-1.632;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,41:267:99:0|1:54805010_A_G:1041,0,9340:54805010	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1118.83	273	chr19	54805033	.	C	T	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.352;DP=461;ExcessHet=0;FS=7.282;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=-10.85;QD=4.1;ReadPosRankSum=0.13;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,44:273:99:0|1:54805010_A_G:1129,0,9245:54805010	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1449.83	262	chr19	54805068	.	A	G	1449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.724;DP=446;ExcessHet=0;FS=2.541;MLEAC=1;MLEAF=0.083;MQ=58.56;MQRankSum=-10.52;QD=5.53;ReadPosRankSum=1.08;SOR=0.519	GT:AD:DP:GQ:PL	0/1:201,61:262:99:1460,0,5525	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1708.83	251	chr19	54805957	.	A	T	1708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=552;ExcessHet=0;FS=1.209;MLEAC=1;MLEAF=0.083;MQ=55.92;MQRankSum=-15.69;QD=6.81;ReadPosRankSum=0.694;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,55:251:99:0|1:54805940_TCTC_T:1719,0,8064:54805940	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1903.83	261	chr19	54805960	.	A	G	1903.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=562;ExcessHet=0;FS=2.593;MLEAC=1;MLEAF=0.083;MQ=55.81;MQRankSum=-15.98;QD=7.29;ReadPosRankSum=0.859;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,60:261:99:0|1:54805940_TCTC_T:1914,0,8259:54805940	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2368.83	286	chr19	54805974	.	A	T	2368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=587;ExcessHet=0;FS=2.378;MLEAC=1;MLEAF=0.083;MQ=56.04;MQRankSum=-15.94;QD=8.28;ReadPosRankSum=0.738;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,72:286:99:0|1:54805940_TCTC_T:2379,0,8769:54805940	5	0	1	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	0.08333	2681.83	314	chr19	54805981	.	G	A	2681.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=616;ExcessHet=0;FS=2.2;MLEAC=1;MLEAF=0.083;MQ=56.12;MQRankSum=-16.21;QD=8.54;ReadPosRankSum=1.09;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,81:314:99:0|1:54805940_TCTC_T:2692,0,9455:54805940	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	3575.83	390	chr19	54806034	.	C	A	3575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.183;DP=1568;ExcessHet=0;FS=3.058;MLEAC=1;MLEAF=0.083;MQ=56.26;MQRankSum=-16.88;QD=9.17;ReadPosRankSum=2.65;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,106:390:99:0|1:54806034_C_A:3586,0,11528:54806034	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	3572.83	391	chr19	54806035	.	A	G	3572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.306;DP=1568;ExcessHet=0;FS=3.061;MLEAC=1;MLEAF=0.083;MQ=56.3;MQRankSum=-16.91;QD=9.14;ReadPosRankSum=2.77;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,106:391:99:0|1:54806034_C_A:3583,0,11570:54806034	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	3171.83	378	chr19	54806051	.	C	G	3171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.758;DP=1556;ExcessHet=0;FS=4.607;MLEAC=1;MLEAF=0.083;MQ=56.76;MQRankSum=-16.43;QD=8.39;ReadPosRankSum=3.72;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,96:378:99:0|1:54806034_C_A:3182,0,11396:54806034	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2838.79	384	chr19	54806072	.	GGA	G	2838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=1568;ExcessHet=0;FS=11.504;MLEAC=1;MLEAF=0.083;MQ=57.15;MQRankSum=-16.43;QD=7.39;ReadPosRankSum=2.36;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,89:384:99:0|1:54806072_GGA_G:2849,0,12119:54806072	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2838.79	384	chr19	54806075	.	A	AGG	2838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=1567;ExcessHet=0;FS=11.504;MLEAC=1;MLEAF=0.083;MQ=57.18;MQRankSum=-16.43;QD=7.39;ReadPosRankSum=1.84;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,89:384:99:0|1:54806072_GGA_G:2849,0,12119:54806072	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2852.83	402	chr19	54806086	.	T	C	2852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.522;DP=1584;ExcessHet=0;FS=7.396;MLEAC=1;MLEAF=0.083;MQ=57.12;MQRankSum=-16.99;QD=7.1;ReadPosRankSum=-1.556;SOR=1.147	GT:AD:DP:GQ:PL	0/1:307,95:402:99:2863,0,9006	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2600.83	374	chr19	54806109	.	A	G	2600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.22;DP=1555;ExcessHet=0;FS=7.601;MLEAC=1;MLEAF=0.083;MQ=57.41;MQRankSum=-16.09;QD=6.95;ReadPosRankSum=-4.599;SOR=1.119	GT:AD:DP:GQ:PL	0/1:289,85:374:99:2611,0,8262	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	253.83	364	chr19	54806112	.	A	G	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.302;DP=1545;ExcessHet=0;FS=3.835;MLEAC=1;MLEAF=0.083;MQ=57.54;MQRankSum=-12.34;QD=0.7;ReadPosRankSum=-3.318;SOR=1.013	GT:AD:DP:GQ:PL	0/1:322,42:364:99:264,0,12848	5	0	1	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	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	277.83	293	chr19	54806161	.	A	G	277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=1475;ExcessHet=0;FS=19.807;MLEAC=1;MLEAF=0.083;MQ=58.54;MQRankSum=-17.07;QD=0.95;ReadPosRankSum=3.88;SOR=2.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,26:293:99:0|1:54806161_A_G:288,0,10926:54806161	5	0	1	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	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	211.83	300	chr19	54806170	.	G	C	211.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=1475;ExcessHet=0;FS=19.712;MLEAC=1;MLEAF=0.083;MQ=58.66;MQRankSum=-17.27;QD=0.71;ReadPosRankSum=3.38;SOR=2.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,25:300:99:0|1:54806161_A_G:222,0,11178:54806161	5	0	1	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	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	361.83	295	chr19	54806184	.	T	C	361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.85;DP=1472;ExcessHet=0;FS=18.569;MLEAC=1;MLEAF=0.083;MQ=58.48;MQRankSum=-17.12;QD=1.23;ReadPosRankSum=0.778;SOR=2.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,28:295:99:0|1:54806184_T_C:372,0,10978:54806184	5	0	1	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	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	424.83	289	chr19	54806191	.	G	A	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.262;DP=1462;ExcessHet=0;FS=20.582;MLEAC=1;MLEAF=0.083;MQ=58.37;MQRankSum=-16.94;QD=1.47;ReadPosRankSum=-1.463;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,29:289:99:0|1:54806184_T_C:435,0,10822:54806184	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2452.83	318	chr19	54808838	.	C	T	2452.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=525;ExcessHet=0;FS=1.613;MLEAC=1;MLEAF=0.083;MQ=57.08;MQRankSum=-16.86;QD=7.71;ReadPosRankSum=0.556;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,76:318:99:0|1:54808838_C_T:2463,0,9892:54808838	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2704.79	339	chr19	54808850	.	TGG	T	2704.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=546;ExcessHet=0;FS=2.788;MLEAC=1;MLEAF=0.083;MQ=57.32;MQRankSum=-16.19;QD=7.98;ReadPosRankSum=-0.336;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,83:339:99:0|1:54808838_C_T:2715,0,10471:54808838	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2671.79	335	chr19	54808853	.	C	CAT	2671.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.971;DP=546;ExcessHet=0;FS=2.804;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-16.07;QD=7.98;ReadPosRankSum=-0.682;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,82:335:99:0|1:54808838_C_T:2682,0,10348:54808838	5	0	1	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	0.08333	3128.83	342	chr19	54808875	.	T	C	3128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.67;DP=562;ExcessHet=0;FS=3.302;MLEAC=1;MLEAF=0.083;MQ=57.82;MQRankSum=-14.26;QD=9.15;ReadPosRankSum=-3.27;SOR=0.892	GT:AD:DP:GQ:PL	0/1:249,93:342:99:3139,0,6840	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2110.83	323	chr19	54855625	.	A	T	2110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.217;DP=536;ExcessHet=0;FS=0.495;MLEAC=1;MLEAF=0.083;MQ=56.92;MQRankSum=-15.88;QD=6.58;ReadPosRankSum=0.619;SOR=0.648	GT:AD:DP:GQ:PL	0/1:252,69:323:99:2121,0,10576	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2113.83	326	chr19	54855628	.	A	G	2113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.5;DP=535;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.91;MQRankSum=-16.27;QD=6.48;ReadPosRankSum=-0.438;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,69:326:99:0|1:54855608_TCTC_T:2124,0,10563:54855608	5	0	1	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	416.79	303	chr19	54855666	.	CAG	C	416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.043;DP=528;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=58.65;MQRankSum=-17.35;QD=1.38;ReadPosRankSum=-5.54;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,30:303:99:0|1:54855666_CAG_C:427,0,11323:54855666	5	0	1	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	416.79	303	chr19	54855669	.	G	GCA	416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.409;DP=515;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=59.03;MQRankSum=-17.35;QD=1.38;ReadPosRankSum=-5.729;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,30:303:99:0|1:54855666_CAG_C:427,0,11323:54855666	5	0	1	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	619.83	285	chr19	54859084	.	C	T	619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.166;DP=467;ExcessHet=0;FS=1.478;MLEAC=1;MLEAF=0.083;MQ=43.03;MQRankSum=-5.612;QD=2.17;ReadPosRankSum=-1.05;SOR=0.641	GT:AD:DP:GQ:PL	0/1:252,33:285:99:630,0,6725	5	0	1	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	583.79	296	chr19	54859096	.	TGG	T	583.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.845;DP=478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.74;MQRankSum=-4.584;QD=1.97;ReadPosRankSum=1.5;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,33:296:99:0|1:54859096_TGG_T:594,0,10840:54859096	5	0	1	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	541.79	295	chr19	54859099	.	C	CAT	541.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.691;DP=475;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.083;MQ=41.52;MQRankSum=-4.565;QD=1.84;ReadPosRankSum=1.72;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,32:295:99:0|1:54859096_TGG_T:552,0,10843:54859096	5	0	1	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	571.83	271	chr19	54859126	.	T	A	571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.159;DP=455;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.35;MQRankSum=-3.105;QD=2.11;ReadPosRankSum=4.89;SOR=0.66	GT:AD:DP:GQ:PL	0/1:240,31:271:99:582,0,6829	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2564.83	236	chr19	54865810	.	T	C	2564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.261;DP=406;ExcessHet=0;FS=3.199;MLEAC=1;MLEAF=0.083;MQ=57.52;MQRankSum=-10.74;QD=10.87;ReadPosRankSum=1.2;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,73:236:99:0|1:54865770_G_A:2575,0,6625:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2447.83	230	chr19	54865825	.	G	A	2447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.116;DP=400;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=57.68;MQRankSum=-10.44;QD=10.64;ReadPosRankSum=1.05;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,70:230:99:0|1:54865770_G_A:2458,0,6508:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2345.83	219	chr19	54865847	.	T	C	2345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.88;DP=389;ExcessHet=0;FS=3.302;MLEAC=1;MLEAF=0.083;MQ=57.5;MQRankSum=-10.44;QD=10.71;ReadPosRankSum=-0.537;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,67:219:99:0|1:54865770_G_A:2356,0,6181:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2237.83	210	chr19	54865852	.	T	A	2237.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.662;DP=380;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=57.44;MQRankSum=-10.2;QD=10.66;ReadPosRankSum=-0.559;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,64:210:99:0|1:54865770_G_A:2248,0,5938:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	2204.83	206	chr19	54865864	.	C	A	2204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.75;DP=376;ExcessHet=0;FS=1.184;MLEAC=1;MLEAF=0.083;MQ=57.53;MQRankSum=-9.706;QD=10.7;ReadPosRankSum=-0.558;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,63:206:99:0|1:54865770_G_A:2215,0,5815:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1994.83	201	chr19	54865870	.	C	T	1994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=371;ExcessHet=0;FS=1.218;MLEAC=1;MLEAF=0.083;MQ=57.57;MQRankSum=-9.084;QD=9.92;ReadPosRankSum=-0.447;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,58:201:99:0|1:54865770_G_A:2005,0,5830:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1685.83	184	chr19	54865885	.	T	C	1685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.41;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.42;MQRankSum=-8.925;QD=9.16;ReadPosRankSum=0.018;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,50:184:99:0|1:54865770_G_A:1696,0,5465:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1697.83	179	chr19	54865888	.	C	T	1697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=349;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.083;MQ=57.24;MQRankSum=-8.973;QD=9.49;ReadPosRankSum=-0.793;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,50:179:99:0|1:54865770_G_A:1708,0,5253:54865770	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	1670.83	173	chr19	54865893	.	G	C	1670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=343;ExcessHet=0;FS=1.334;MLEAC=1;MLEAF=0.083;MQ=57.2;MQRankSum=-8.719;QD=9.66;ReadPosRankSum=-0.63;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,49:173:99:0|1:54865770_G_A:1681,0,5010:54865770	5	0	1	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1130.83	234	chr19	54866420	.	C	G	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.694;DP=419;ExcessHet=0;FS=34.655;MLEAC=1;MLEAF=0.083;MQ=57.9;MQRankSum=-15.17;QD=4.83;ReadPosRankSum=0.367;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,41:234:99:0|1:54866416_T_C:1141,0,7957:54866416	5	0	1	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	381.83	378	chr19	54866533	.	A	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.525;DP=571;ExcessHet=0;FS=81.768;MLEAC=1;MLEAF=0.083;MQ=57.97;MQRankSum=-19.36;QD=1.01;ReadPosRankSum=0.875;SOR=3.101	GT:AD:DP:GQ:PL	0/1:329,49:378:99:392,0,9556	5	0	1	0
chr19	55486809	55486809	G	T	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G474T:p.M158I	.	397	1119	6	0	0	6	0.0026738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.000399361	0.0115	0	0	0	0	0.0052	0	0.0159	0.0002781	43	154602	rs530693711	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0029	0.0028	0.0001	0.0005	0	0	6.228e-05	0.0022	0.0005	0.0007	0.0033	0.0006	0.0006	0.0004	0.0007	0.0044	0.0005	0.0004	0.0029	0.0025	0.0001	0	0.0005	0	0.0002	0	0	0.0007	0.0009	0.0044	0.437	0.09346	T	0.527	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.864213	0.08872	N	0.924705	1	0.08975	N	0	0.06538	N	.	.	.	-0.11	0.08653	N	0.171	0.18239	-1.0250	0.22083	T	0.033	0.14073	T	9	0.0059907734	0.00134	T	.	.	.	0.122	0.33800	0.388	0.40951	0.221734844693	0.21761	0.4025468233762649	0.40170	0.306447022474	0.32941	0.886716127396	0.94845	D	0.003464	0.02869	T	-0.538554	0.00342	T	-0.548477	0.17472	T	0.0153031973471753	0.00339	T	0.613939	0.23413	T	0.05128767	0.09397	0.050202314	0.07832	0.05128767	0.09396	0.050202314	0.07832	-4.61	0.32297	T	.	.	0.212	0.44095	B	.	.	1.824424	0.23182	15.92	0.92889096947834826	0.22440	0.38885	0.26089	N	AEFDGBCI	0.090176	0.18275	N	-0.92916579896595	0.10164	0.4844298	-0.882285098230132	0.12513	0.6441352	0.999994431754565	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.26897	0.05253	2	0.581474	0.35302	0	.	.	3.81	-2.89	0.05326	0.289000	0.18713	1.163000	0.24567	0.674000	0.70861	0.130000	0.23345	0.690000	0.26170	0.985000	0.61073	0.2218:0.1697:0.2635:0.345	0.328	0.00292	970	0.06235	GNAT 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	0.005348	0.000000	0.004360	0.011976	0.000000	0.000000	0.000000	0.007874	0.08333	600.83	37	chr19	55486809	.	G	T	600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.506;DP=162;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.782;SOR=0.352	GT:AD:DP:GQ:PL	0/1:16,21:37:99:611,0,498	5	0	1	0
chr19	56209064	56209064	A	G	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.A1355G:p.K452R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000730287940354	.	.	9.686e-06	0	0	0	0	1.743e-05	0	0	3.84e-05	1	26028	rs762622132	1.79e-05	1.848e-05	1.919e-05	1.659e-05	3.493e-05	1.245e-05	1.058e-05	1.387e-05	1.158e-05	0	0	0	0	0	0	2.083e-05	0	3.493e-05	2.631e-05	2.627e-05	3.858e-05	1.346e-05	5.879e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.14	0.60854	T	-0.01	0.07155	N	0.044	0.01999	-1.0079	0.27572	T	0.061	0.25310	T	6	0.056021303	0.06214	T	7.3E-4	0.00491	T	0.012	0.01476	0.411	0.44723	0.293147016451	0.28931	0.032144555209771	0.03162	0.00728219743574	0.00638	.	.	.	0.002745	0.02136	T	-0.32893	0.06192	T	-0.710261	0.05281	T	0.033541401367569	0.02561	T	0.579042	0.20891	T	0.018621393	0.00384	0.027785646	0.00959	0.018621393	0.00384	0.027785646	0.00959	-3.568	0.17395	T	.	.	0.203	0.43366	B	.;.	.;.	-0.560103	0.01684	0.121	0.2232580579290287	0.00893	0.00529	0.02453	N	AEFDBI	0.032526	0.03691	N	-0.921707154283177	0.10336	0.4933944	-1.09975248278183	0.07706	0.3758797	5.76886403524621E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-0.319	0.12094	-2.063000	0.01476	.	.	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6462:0.0:0.3537:0.0	5.224	0.14706	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3851.83	264	chr19	56209064	.	A	G	3851.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.471;DP=479;ExcessHet=0;FS=0.449;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-1.743;QD=14.59;ReadPosRankSum=-0.174;SOR=0.72	GT:AD:DP:GQ:PL	0/1:121,143:264:99:3862,0,3365	5	0	1	0
chr19	58063604	58063604	T	C	exonic	ZNF135	.	nonsynonymous SNV	ZNF135:NM_001164527:exon3:c.T355C:p.S119P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260832288	6.885e-06	7.524e-06	6.845e-06	6.925e-06	9.033e-06	3.48e-06	2.54e-06	4.57e-06	3.33e-06	0	0	0	0	0	0	9.033e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1118.83	104	chr19	58063604	.	T	C	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.86;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.905;SOR=0.724	GT:AD:DP:GQ:PL	0/1:60,44:104:99:1129,0,1639	5	0	1	0
chr20	4248603	4248603	G	T	exonic	ADRA1D	.	nonsynonymous SNV	ADRA1D:NM_000678:exon1:c.C355A:p.L119I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0140563690566	.	.	8.889e-06	0	0	0	0	1.61e-05	0	0	6.5e-06	1	154602	rs748759538	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.085	0.41074	T	0.975	0.58077	D	0.951	0.68939	D	0.000285	0.46274	D	0.099543	0.999707	0.48408	D	1.355	0.33814	L	2.21	0.18414	T	-1.56	0.37759	N	0.611	0.62781	-1.1441	0.01212	T	0.060	0.25018	T	10	0.5074414	0.61900	D	0.014056	0.33919	T	0.263	0.57612	0.598	0.72862	0.442363741745	0.43858	0.17024240298161625	0.16944	.	.	0.867655694485	0.92231	D	0.108129	0.42090	T	-0.107182	0.35234	T	-0.37625	0.36159	T	0.782768607139587	0.45224	D	0.962404	0.85901	D	0.17500645	0.38336	0.20115057	0.44081	0.17500645	0.38335	0.20115057	0.44080	-7.452	0.57272	T	.	.	0.304	0.53340	B	.	.	5.057342	0.84268	28.3	0.99446998949851484	0.65071	0.96908	0.71597	D	AEFDBHCI	0.811192	0.73424	D	0.434866949504421	0.63350	4.567057	0.399144132544188	0.61513	4.352338	0.999999999969476	0.74766	0.59774	0.34471	0	0.626922	0.53725	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.23	4.23	0.49319	6.828000	0.75100	11.658000	0.93956	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.1111:0.0:0.8889:0.0	7.919	0.29000	965	0.07246	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2246.83	160	chr20	4248603	.	G	T	2246.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.971;DP=361;ExcessHet=0;FS=1.242;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.312;SOR=0.815	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2257,0,1813	5	0	1	0
chr20	10598725	10598725	C	T	exonic	SLX4IP	.	nonsynonymous SNV	SLX4IP:NM_001009608:exon5:c.C289T:p.R97C	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0003	0.00559105	0.0033	0	8.669e-05	0.0324	0.0020	0.0011	0.0110	0.0010	0.0029301	453	154602	rs78689061	0.0012	0.0012	0.0012	0.0012	0.0272	0.0012	0.0012	0.0259	0.0253	0	0.0002	7.652e-05	0.0272	0.0025	0.0003	0.0003	0.0018	0.0012	0.0013	0.0013	0.0012	0.0015	0.0268	0.0012	0.0011	0.0232	0.0218	9.626e-05	0	0.0003	0	0.0268	0.0009	0	0.0004	0.0019	0.0029	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.947	0.68407	D	0.000512	0.43753	D	0.146148	0.999846	0.49770	D	2.045	0.56016	M	1.79	0.25509	T	-5.35	0.84742	D	0.554	0.57946	-1.0093	0.27136	T	0.076	0.30645	T	10	0.010911256	0.00241	T	.	.	.	0.271	0.58633	.	.	0.54823119731	0.54479	0.4649111838509392	0.46410	0.498122856725	0.48292	0.222337335348	0.01449	T	0.179463	0.53046	T	-0.430761	0.01467	T	-0.365075	0.37464	T	0.0988294406230164	0.12228	T	0.861914	0.55630	D	0.3840672	0.59609	0.37305677	0.62501	0.3840672	0.59609	0.37305677	0.62501	-3.722	0.19643	T	.	.	0.129	0.27613	B	.	.	3.939900	0.57647	23.9	0.99929742529716725	0.99279	0.60456	0.31200	D	AEFDGBCIJ	0.274947	0.39002	N	0.555240076433633	0.70402	5.496223	0.543226341183601	0.70928	5.577812	0.999999999999923	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.616094	0.41390	0	0.466023	0.07079	0	.	.	5.31	5.31	0.75063	1.203000	0.31890	1.585000	0.27497	0.599000	0.40250	0.997000	0.40164	0.927000	0.28453	0.941000	0.48210	0.0:1.0:0.0:0.0	19.017	0.92876	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1160.83	104	chr20	10598725	.	C	T	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.363;DP=285;ExcessHet=0;FS=6.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.66;SOR=0.293	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1171,0,1464	5	0	1	0
chr20	18394312	18394312	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon15:c.C1149A:p.H383Q,DZANK1:NM_001099407:exon16:c.C1650A:p.H550Q,DZANK1:NM_001351683:exon16:c.C1734A:p.H578Q,DZANK1:NM_001351684:exon16:c.C1707A:p.H569Q,DZANK1:NM_001367611:exon16:c.C1668A:p.H556Q,DZANK1:NM_001367612:exon16:c.C1683A:p.H561Q,DZANK1:NM_001367613:exon16:c.C1683A:p.H561Q,DZANK1:NM_001367614:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367617:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367618:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367619:exon17:c.C1308A:p.H436Q	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0160700415076	.	.	0.0001	0	0	0	0	1.564e-05	0	0.0008	8.41e-05	13	154602	rs768913708	4.926e-05	4.925e-05	2.723e-05	7.152e-05	0.0006	3.993e-05	3.67e-05	0.0005	0.0004	0	0	0	0	0	0.0005	1.349e-05	4.97e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.21	0.19639	T	0.568	0.20164	T	0.05	0.22331	B	0.013	0.16460	B	.	.	.	.	0.558216	0.32190	D	1.585	0.39878	L	-0.01	0.62762	T	-2.08	0.47514	N	0.216	0.29197	-1.0057	0.28247	T	0.098	0.36677	T	9	0.11170712	0.20926	T	0.01607	0.37142	T	0.076	0.22200	0.373	0.38503	0.417843521124	0.41399	0.18203445716634029	0.18122	0.0415236237448	0.04460	0.349460303783	0.17842	T	0.004081	0.21583	T	-0.320501	0.06856	T	-0.34067	0.40269	T	0.06617671376611	0.08103	T	0.589341	0.21633	T	0.074896894	0.16839	0.0805428	0.18229	0.074896894	0.16838	0.0805428	0.18228	-3.125	0.11586	T	.	.	0.105	0.25364	B	.;.;.;.;.	.;.;.;.;.	0.892373	0.12662	9.183	0.84245206864291367	0.15180	0.65174	0.32649	D	AEFBI	0.141743	0.26399	N	-0.137632777848058	0.35763	2.058315	-0.170354562282074	0.32632	1.858541	0.0978600075038982	0.16291	0.651	0.46895	0	0.708844	0.79440	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.29	1.64	0.22949	0.590000	0.23655	1.957000	0.29917	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.008000	0.08271	0.2586:0.2091:0.5323:0.0	3.524	0.07311	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1730.83	142	chr20	18394312	.	G	T	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.045;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.368;SOR=0.696	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1741,0,1988	5	0	1	0
chr20	31845230	31845230	C	T	exonic	FOXS1	.	nonsynonymous SNV	FOXS1:NM_004118:exon1:c.G313A:p.G105S	.	4	1515	3	0	0	3	0.00098912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.185940335799	0.0004	0.000199681	0.0006	0.0002	0	0	0.0017	0.0008	0	0.0004	0.0005757	89	154602	rs148349934	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0011	0.0010	0.0001	0.0002	0	0	0.0017	0.0005	0.0011	0.0010	0.0003	0.0008	0.0008	0.0007	0.0009	0.0014	0.0007	0.0006	0.0009	0.0008	0.0002	0.0011	0.0014	0	0	0.0024	0	0.0010	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.9	0.63913	P	0.000143	0.49130	D	0.000000	1	0.81001	D	3.07	0.87108	M	-3.81	0.95728	D	-5.57	0.86372	D	0.7	0.70439	1.084	0.99028	D	0.936	0.97910	D	10	0.31142506	0.48611	T	0.18594	0.85843	D	0.905	0.97398	.	.	0.967329394264	0.96697	0.7773004079283371	0.77680	0.557447716454	0.52361	0.735388875008	0.72294	T	0.610747	0.87660	D	-0.0582359	0.43182	T	0.137714	0.79397	D	0.158489897847176	0.17759	T	0.982502	0.94093	D	0.8811962	0.89765	0.7900858	0.87651	0.8811962	0.89766	0.7900858	0.87652	-11.219	0.80845	D	.	.	0.931	0.85082	P	.	.	6.024332	0.94371	34	0.99873468605368887	0.95076	0.99599	0.97851	D	AEFDBI	0.963799	0.98579	D	0.911314667084832	0.92302	11.347	0.838161545162648	0.92305	11.35109	0.999999999999988	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	7.894000	0.85895	7.433000	0.58809	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	16.979	0.86193	640	0.64132	Fork head domain|Fork head 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	3419.04	100	chr20	31845230	.	C	T	3419.04	.	AC=2;AF=0.167;AN=12;DP=286;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.19;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3439,299,0	5	1	0	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	.	.	.	.	.	.	.	.	0.3333	714.03	118	chr20	34852409	.	G	C	714.03	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.086;DP=729;ExcessHet=3.1439;FS=260.158;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.58;SOR=9.773	GT:AD:DP:GQ:PL	0/1:70,29:118:11:11,0,1166	2	0	4	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.1667	4470.04	137	chr20	35000390	.	G	A	4470.04	.	AC=2;AF=0.167;AN=12;DP=324;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.63;SOR=1.381	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4490,410,0	5	1	0	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	89.16	72	chr20	38497424	.	A	G	89.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.625;DP=364;ExcessHet=0.4139;FS=199.774;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.768;SOR=8.015	GT:AD:DP:GQ:PL	0/1:54,18:72:24:24,0,1126	4	0	2	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	.	.	.	.	.	.	.	.	0.2	222.34	51	chr20	41100210	.	T	C	222.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.157;DP=255;ExcessHet=0.4139;FS=71.059;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.32;SOR=6.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,19:51:99:0|1:41100207_G_A:197,0,418:41100207	3	0	2	1
chr20	44006673	44006673	G	A	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon3:c.G166A:p.G56S,TOX2:NM_001098797:exon3:c.G292A:p.G98S,TOX2:NM_001098798:exon3:c.G319A:p.G107S,TOX2:NM_032883:exon4:c.G166A:p.G56S	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00301271081974	0.0026	0.00179712	0.0024	0.0012	0.0002	0	0.0012	0.0035	0.0044	0.0024	0.0024321	376	154602	rs139380167	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0042	0.0008	0.0003	0.0009	0	0.0009	0.0026	0.0044	0.0035	0.0024	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0011	0.0274	0.0003	0.0009	0.0002	0.0011	0	0.0040	0.0009	0.0035	0.786	0.03235	T	0.741	0.04965	T	0.108	0.26116	B	0.013	0.16460	B	0.003103	0.35419	N	0.309579	0.869857	0.28683	N	-0.345	0.03330	N	1.05	0.39990	T	0.41	0.05035	N	0.221	0.26111	-1.0914	0.05303	T	0.027	0.11663	T	10	0.0060950518	0.00137	T	0.003013	0.06457	T	0.065	0.18881	.	.	0.209943299407	0.20609	0.366609849214609	0.36574	0.336715624653	0.35668	0.382082521915	0.22552	T	0.002832	0.02227	T	-0.45935	0.00992	T	-0.430682	0.29857	T	0.00857870038714218	0.00105	T	0.841416	0.52334	T	0.02855788	0.02212	0.041475408	0.04721	0.02855788	0.02211	0.041475408	0.04721	-3.144	0.11927	T	.	.	0.061	0.01143	B	.;.;.;.	.;.;.;.	1.255407	0.16525	12.60	0.93091309521907362	0.22715	0.63730	0.32181	D	AEFDGBHCI	0.165826	0.29235	N	-0.51199534030107	0.21690	1.153021	-0.320731566376458	0.27429	1.521993	0.999997080771435	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.24	1.59	0.22622	1.190000	0.31735	-0.378000	0.09560	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.5819:0.0:0.4181:0.0	5.850	0.17940	522	0.74218	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.007576	0.08333	2837.83	194	chr20	44006673	.	G	A	2837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=373;ExcessHet=0;FS=1.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.218;SOR=0.807	GT:AD:DP:GQ:PL	0/1:90,104:194:99:2848,0,2318	5	0	1	0
chr20	45313575	45313575	C	T	exonic	RBPJL	.	stopgain	RBPJL:NM_001281448:exon7:c.C727T:p.R243X,RBPJL:NM_001281449:exon7:c.C727T:p.R243X,RBPJL:NM_014276:exon7:c.C727T:p.R243X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0.0002	0.0001	0	6.402e-05	0	0.0022	0.0002652	41	154602	rs566580473	0.0001	0.0001	9.808e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	2.99e-05	0.0002	0	0	0	0.0011	3.96e-05	0.0001	0.0014	7.22e-05	7.873e-05	2.569e-05	0.0001	0.0012	3.967e-05	3.124e-05	0.0005	0.0004	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.425	0.46462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124053	0.66777	D	0.380789	0.91460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.795151	0.96869	36	0.99790160493211488	0.87572	0.20261	0.20975	N	AEFDGBI	0.329115	0.42956	N	0.0599671504877334	0.44602	2.731261	-0.2156053377478	0.30976	1.748799	0.43406212198118	0.20397	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.85	1.51	0.22094	0.147000	0.16021	2.506000	0.33051	-0.218000	0.08083	0.003000	0.16062	0.969000	0.29651	0.778000	0.36829	0.611:0.3889:0.0:0.0	13.602	0.61492	872	0.31118	.;Beta-trefoil DNA-binding domain|Beta-trefoil DNA-binding domain;Beta-trefoil DNA-binding domain|Beta-trefoil DNA-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	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	579.83	54	chr20	45313575	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=233;ExcessHet=0;FS=3.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.341;SOR=0.771	GT:AD:DP:GQ:PL	0/1:31,23:54:99:590,0,762	5	0	1	0
chr20	46056217	46056217	G	A	exonic	SLC12A5	.	nonsynonymous SNV	SLC12A5:NM_001134771:exon22:c.G2924A:p.R975H,SLC12A5:NM_020708:exon22:c.G2855A:p.R952H	Epileptic encephalopathy, early infantile, 34, Autosomal recessive	424	1074	23	1	0	25	0.0115048	.	.	.	215104	SLC12A5-related_disorder|not_provided|Epilepsy,_idiopathic_generalized,_susceptibility_to,_14|Developmental_and_epileptic_encephalopathy,_34	.|MedGen:C3661900|MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645,Orphanet:293181	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.666	.	0.0005	0.00359425	0.0034	0.0004	0.0010	0.0002	0.0002	0.0012	0.0033	0.0186	0.0029819	461	154602	rs142740233	0.0022	0.0022	0.0015	0.0028	0.0190	0.0021	0.0021	0.0182	0.0179	0.0003	0.0005	0.0099	0.0001	0.0001	0.0045	0.0010	0.0022	0.0190	0.0013	0.0013	0.0014	0.0013	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0005	0.0092	0.0006	0	0	0.0012	0.0009	0.0145	0.057	0.37966	T	0.144	0.33109	T	0.001	0.09854	B	0.001	0.06944	B	0.007119	0.31595	N	0.269330	0.644884	0.32910	D	-0.205	0.04094	N	0.83	0.47815	T	-1.32	0.32991	N	0.735	0.73555	-0.9958	0.31082	T	0.106	0.38661	T	10	0.007701069	0.00175	T	.	.	.	0.666	0.87576	.	.	0.36413608308	0.36018	0.6965851662878576	0.69599	0.205256797494	0.22944	0.435112118721	0.29908	T	0.300205	0.67271	T	-0.530051	0.00384	T	-0.519221	0.20372	T	0.0103095291409408	0.00141	T	0.848715	0.53056	T	0.070505686	0.15535	0.07315132	0.15865	0.07981876	0.18256	0.0678229	0.14081	-6.487	0.50186	T	.	.	0.068	0.03093	B	.;.	.;.	3.354920	0.46288	22.3	0.97801804319768593	0.36071	0.72452	0.35462	D	AEFDGBHCI	0.340412	0.43724	N	-0.411326066420493	0.25072	1.358304	-0.312489712344542	0.27695	1.538611	0.732868416677542	0.23079	0.549168	0.22868	0	0.547309	0.14657	0	0.61531	0.40942	0	0.616125	0.45549	0	.	.	4.8	3.86	0.43689	2.973000	0.48956	8.636000	0.77873	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1711:0.0:0.8289:0.0	8.706	0.33518	862	0.33134	SLC12A transporter, 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	0.005544	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	1541.83	123	chr20	46056217	.	G	A	1541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=298;ExcessHet=0;FS=1.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-2.133;SOR=0.832	GT:AD:DP:GQ:PL	0/1:66,57:123:99:1552,0,1615	5	0	1	0
chr20	57652114	57652114	G	A	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon4:c.C719T:p.P240L,PMEPA1:NM_020182:exon4:c.C803T:p.P268L,PMEPA1:NM_199169:exon4:c.C698T:p.P233L,PMEPA1:NM_199170:exon4:c.C653T:p.P218L,PMEPA1:NM_199171:exon4:c.C653T:p.P218L	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0019	0.00179712	0.0065	0.0003	0.0104	0	0	0.0089	0.0135	0.0057	0.0022121	342	154602	rs148829733	0.0029	0.0029	0.0028	0.0030	0.0093	0.0028	0.0028	0.0073	0.0066	0.0006	0.0036	0.0035	2.605e-05	0.0004	0.0093	0.0030	0.0033	0.0040	0.0022	0.0022	0.0022	0.0021	0.0046	0.0020	0.0019	0.0038	0.0035	0.0007	0	0.0046	0.0020	0	0.0004	0.0170	0.0029	0.0024	0.0031	0.007	0.68238	D	0.027	0.63918	D	0.137	0.27402	B	0.037	0.23121	B	0.404171	0.13084	N	0.715319	0.706254	0.33472	D	0.69	0.16971	N	0.97	0.42502	T	-3.43	0.68298	D	0.259	0.42149	-0.9347	0.43439	T	0.083	0.32671	T	10	0.0076191127	0.00173	T	.	.	.	0.029	0.06676	.	.	0.12205267543	0.11705	0.36309227256854276	0.36223	0.632557692363	0.57183	0.494021475315	0.37997	T	0.197134	0.55371	T	-0.52124	0.00433	T	-0.522975	0.19995	T	0.0167556808589164	0.00431	T	0.867913	0.56927	D	0.05512273	0.10670	0.058195956	0.10713	0.05512273	0.10670	0.058195956	0.10712	-4.941	0.36193	T	0.2378468361591428	0.32211	0.113	0.22245	B	.;.;.;.;.	.;.;.;.;.	1.750648	0.22270	15.55	0.96805604297800951	0.31169	0.71454	0.35020	D	AEFDGBCI	0.247569	0.36812	N	-0.436719195244775	0.24192	1.304559	-0.395558123697557	0.25129	1.380115	0.990729299226161	0.32248	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.47	3.38	0.37806	1.325000	0.33330	5.046000	0.46955	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.004000	0.06068	0.0:0.3685:0.4945:0.137	7.425	0.26266	863	0.32847	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009128	0.015625	0.005450	0.011834	0.000000	0.000000	0.018519	0.007576	0.08333	749.83	76	chr20	57652114	.	G	A	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.9;SOR=0.61	GT:AD:DP:GQ:PL	0/1:44,32:76:99:760,0,1151	5	0	1	0
chr20	63696852	63696852	G	A	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon1:c.G85A:p.G29R	.	.	.	.	.	.	.	.	.	.	.	1623984	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.056	.	.	0.00219649	0.0012	0	0.0002	0.0129	0	0.0002	0.0029	0.0003	0.0008667	134	154602	rs61760055	0.0004	0.0004	0.0004	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	2.99e-05	6.726e-05	0	0.0071	1.927e-05	0.0002	0.0001	0.0005	0.0005	0.0006	0.0006	0.0006	0.0006	0.0133	0.0005	0.0004	0.0108	0.0099	2.405e-05	0	0.0002	0	0.0133	0	0.0034	0.0001	0.0005	0.0006	0.073	0.34800	T	0.005	0.72224	D	0.059	0.23051	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.965	0.53209	M	-0.55	0.71068	T	-1.0	0.26422	N	0.205	0.22742	-0.7953	0.55421	T	0.449	0.78401	T	9	0.0046648383	0.00098	T	.	.	.	0.056	0.15993	0.505	0.59924	0.563468811869	0.56009	0.4916093362435752	0.49081	0.0140552720616	0.01340	0.495234906673	0.38165	T	0.096083	0.39753	T	-0.541643	0.00328	T	-0.535214	0.18769	T	0.0134399899354233	0.00244	T	0.525647	0.17278	T	0.05669129	0.11188	0.06849717	0.14310	0.05669129	0.11187	0.06849717	0.14310	-5.848	0.44990	T	.	.	0.188	0.40506	B	.	.	1.172000	0.15615	11.98	0.91455222112812518	0.20725	0.89070	0.49319	D	ALL	0.083924	0.17006	N	-0.697093964902933	0.16104	0.8175596	-0.898140154076701	0.12138	0.6226321	0.999999718630624	0.74766	0.652421	0.48094	0	0.611049	0.52481	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.23	0.073	0.13699	0.306000	0.19030	-0.197000	0.10982	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3288:0.0:0.296:0.3752	2.791	0.05057	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.000508	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1407.83	95	chr20	63696852	.	G	A	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.206;SOR=0.634	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1418,0,1059	5	0	1	0
chr20	64208100	64208102	GAG	-	exonic	MYT1	.	nonframeshift deletion	MYT1:NM_004535:exon7:c.904_906del:p.E306del	.	390	1116	16	0	0	16	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	.	0.0023	0.0008	0.0031	0.0001	0	0.0030	0.0036	0.0019	0.00073	19	26028	rs147483668	0.0021	0.0024	0.0020	0.0022	0.0258	0.0020	0.0020	0.0224	0.0211	0.0011	0.0040	0.0311	5.043e-05	3.79e-05	0.0258	0.0014	0.0042	0.0018	0.0025	0.0025	0.0024	0.0026	0.0066	0.0023	0.0022	0.0055	0.0051	0.0006	0.0077	0.0066	0.0254	0	9.54e-05	0.0172	0.0019	0.0062	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189080	0.479167	0.087193	0.131579	0.100000	0.172414	0.207317	0.132576	0.08333	3423.79	156	chr20	64208099	.	AGAG	A	3423.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.694;DP=371;ExcessHet=0;FS=7.806;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=-0.805;SOR=1.292	GT:AD:DP:GQ:PL	0/1:68,88:156:99:3434,0,2531	5	0	1	0
chr21	14643004	14643004	C	T	exonic	LOC388813	.	nonsynonymous SNV	LOC388813:NM_001256579:exon1:c.G70A:p.V24M	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00175089071758	.	0.00279553	0.0036	0.0033	0	0	0.0012	0.0062	0	0.0027	0.0017335	268	154602	rs149223740	0.0066	0.0059	0.0067	0.0065	0.0090	0.0064	0.0063	0.0087	0.0086	0.0030	0.0058	0.0030	0.0002	0.0019	0.0079	0.0090	0.0075	0.0032	0.0063	0.0063	0.0065	0.0061	0.0095	0.0060	0.0058	0.0089	0.0087	0.0035	0	0.0071	0.0020	0.0004	0.0013	0.0136	0.0095	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0206	0.23519	T	0.025	0.10509	T	6	0.008035332	0.00182	T	0.001751	0.02960	T	.	.	.	.	.	.	.	.	.	.	0.215360105038	0.01059	T	.	.	.	-0.646999	0.00075	T	-0.692751	0.06231	T	0.00160834843911263	0.00016	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16626	B	.	.	-0.340433	0.02445	0.279	0.29110385859559285	0.01528	0.00345	0.01785	N	AEFBI	0.027808	0.02338	N	-0.806131300588514	0.13153	0.6459952	-0.98692861124557	0.10078	0.505361	4.82889593819539E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-3.21	0.04823	-0.877000	0.04305	-3.100000	0.03061	-1.738000	0.00705	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.151:0.4624:0.0:0.3867	5.757	0.17447	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	.	.	.	.	.	.	.	.	0.1667	1270.04	43	chr21	14643004	.	C	T	1270.04	.	AC=2;AF=0.167;AN=12;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.54;SOR=1.312	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1290,129,0	5	1	0	0
chr21	30166355	30166355	A	G	exonic	CLDN17	.	nonsynonymous SNV	CLDN17:NM_012131:exon1:c.T263C:p.V88A	.	.	.	.	.	.	.	.	.	.	.	3306600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0778582493147	0.0003	.	8.245e-05	9.621e-05	0	0	0	0.0001	0.0011	6.056e-05	7.12e-05	11	154602	rs373800539	8.14e-05	8.14e-05	8.304e-05	7.976e-05	9.982e-05	6.935e-05	6.486e-05	8.395e-05	7.891e-05	0	2.236e-05	0	0	0	0	9.982e-05	3.312e-05	5.797e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.133	0.26409	T	0.082	0.41573	T	0.006	0.13644	B	0.02	0.19048	B	0.000074	0.52346	D	0.128836	1	0.08975	N	1.23	0.30720	L	-2.65	0.90210	D	-2.56	0.55339	D	0.114	0.10198	-0.2910	0.75238	T	0.575	0.84639	D	10	0.16048715	0.30127	T	0.077858	0.72870	D	0.210	0.50028	.	.	0.742283290031	0.73996	0.35975965468635324	0.35889	0.0308517615047	0.03197	0.357250124216	0.18985	T	0.480983	0.80974	T	-0.0342359	0.46799	T	-0.286954	0.46087	T	0.561798930168152	0.34922	D	0.481052	0.14533	T	0.24139524	0.47054	0.26645967	0.52491	0.24139524	0.47054	0.26645967	0.52490	-6.107	0.47166	T	.	.	0.102	0.18122	B	.	.	1.618020	0.20668	14.86	0.9611176046466603	0.28745	0.13126	0.17678	N	AEFBI	0.106843	0.21305	N	-0.578720803355298	0.19591	1.026593	-0.560741923330195	0.20521	1.105972	0.916634827471485	0.26518	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	2.7	0.31007	2.908000	0.48448	1.832000	0.29123	0.756000	0.94297	0.016000	0.19238	0.000000	0.08366	0.968000	0.53726	0.7295:0.1892:0.0813:0.0	7.800	0.28334	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1413.83	116	chr21	30166355	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=288;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.516;SOR=0.952	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1424,0,1804	5	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor 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	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.25	3014.03	105	chr21	33252732	.	C	G	3014.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.43;DP=378;ExcessHet=1.383;FS=3.376;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.731;SOR=0.518	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1221,0,1270	3	0	3	0
chr21	34792300	34792300	-	GGGGGGGGGGGGGGGGG	exonic	RUNX1	.	frameshift insertion	RUNX1:NM_001001890:exon6:c.1196_1197insCCCCCCCCCCCCCCCCC:p.R400Pfs*173,RUNX1:NM_001754:exon9:c.1277_1278insCCCCCCCCCCCCCCCCC:p.R427Pfs*173	Leukemia, acute myeloid, Autosomal dominant;Platelet disorder, familial, with associated myeloid malignancy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	43.9	9	chr21	34792300	.	C	CGGGGGGGGGGGGGGGGG	43.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=106;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=1.61;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:54:0|1:34792300_C_CGGGGGGGGGGGGGGGGG:54,0,207:34792300	5	0	1	0
chr21	36036228	36036228	T	A	exonic	SETD4	.	nonsynonymous SNV	SETD4:NM_017438:exon11:c.A1212T:p.K404N,SETD4:NM_001286752:exon12:c.A1140T:p.K380N	.	434	1080	8	0	0	8	0.00369004	.	.	.	2824725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00472244581875	0.0037	0.00179712	0.0028	0.0010	0.0041	0	0	0.0040	0.0011	0.0006	0.0028201	436	154602	rs140814445	0.0039	0.0039	0.0040	0.0038	0.0047	0.0039	0.0038	0.0046	0.0045	0.0012	0.0043	0.0004	0	0.0002	0.0045	0.0047	0.0036	0.0004	0.0027	0.0027	0.0028	0.0026	0.0045	0.0025	0.0024	0.0041	0.0039	0.0012	0	0.0029	0.0003	0.0002	0.0002	0	0.0045	0.0024	0.0004	0.397	0.10588	T	0.45	0.12957	T	0.001	0.07471	B	0.004	0.10090	B	0.305530	0.14523	N	0.695598	1	0.08975	N	1.65	0.42232	L	2.21	0.18414	T	-0.35	0.12847	N	0.053	0.11054	-0.9854	0.33735	T	0.013	0.05177	T	10	0.0030344427	0.00050	T	0.004722	0.11753	T	0.015	0.02232	0.407	0.44066	0.171388866994	0.16791	0.11538065356393133	0.11466	0.221083113233	0.24657	0.281364500523	0.07683	T	0.009621	0.08746	T	-0.662603	0.00061	T	-0.724019	0.04604	T	0.00650356942661854	0.00073	T	0.514149	0.16548	T	0.035651933	0.04236	0.03600513	0.02962	0.035651933	0.04236	0.03600513	0.02962	-3.628	0.18263	T	.	.	0.110	0.22680	B	.;.;.	.;.;.	-0.390860	0.02246	0.230	0.80167102040219962	0.13076	0.08294	0.14242	N	AEBI	0.067516	0.13277	N	-1.13734566620279	0.05990	0.2746056	-1.14395937932395	0.06877	0.3325366	0.752541271268821	0.23383	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.63	-0.897	0.10018	-2.158000	0.01367	-1.368000	0.05605	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.738000	0.35369	0.2482:0.1434:0.2565:0.3519	0.493	0.00529	903	0.23940	Rubisco LSMT, substrate-binding domain;.;Rubisco LSMT, substrate-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	1	0	0.003021	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	367.83	37	chr21	36036228	.	T	A	367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.447;DP=166;ExcessHet=0;FS=3.231;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.414;SOR=0.268	GT:AD:DP:GQ:PL	0/1:21,16:37:99:378,0,595	5	0	1	0
chr21	39413925	39413925	-	AGG	exonic	LCA5L	.	nonframeshift insertion	LCA5L:NM_001384303:exon7:c.706_707insCCT:p.L236delinsPF	.	1211	177	34	94	6	228	0.385417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs369768774	0	0.0019	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.55	1	chr21	39413925	.	A	AAGG	103.55	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.524;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=1.65;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,1:1:3:45,3,0	4	1	0	1
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	.	.	.	.	.	.	.	.	0.1	244.7	90	chr21	41918930	.	C	G	244.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.083;DP=380;ExcessHet=0;FS=133.627;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=1.56;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,21:90:99:0|1:41918930_C_G:254,0,2467:41918930	4	0	1	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	.	.	.	.	.	.	.	.	0.1667	243.9	91	chr21	41918931	.	C	G	243.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.634;DP=370;ExcessHet=0;FS=134.303;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=1.76;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,21:91:99:0|1:41918930_C_G:251,0,2489:41918930	2	0	1	3
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	.	.	.	.	.	.	.	.	0.08333	243.83	90	chr21	41918933	.	C	G	243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.77;DP=335;ExcessHet=0;FS=135.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.86;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,21:90:99:0|1:41918930_C_G:254,0,2468:41918930	5	0	1	0
chr21	42765490	42765490	C	T	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon9:c.C701T:p.T234I,PDE9A:NM_001001575:exon10:c.C872T:p.T291I,PDE9A:NM_001001576:exon10:c.C701T:p.T234I,PDE9A:NM_001001569:exon11:c.C968T:p.T323I,PDE9A:NM_001001572:exon11:c.C731T:p.T244I,PDE9A:NM_001001577:exon11:c.C950T:p.T317I,PDE9A:NM_001001568:exon12:c.C971T:p.T324I,PDE9A:NM_001001573:exon12:c.C731T:p.T244I,PDE9A:NM_001001578:exon12:c.C1046T:p.T349I,PDE9A:NM_001001579:exon12:c.C731T:p.T244I,PDE9A:NM_001001571:exon13:c.C1049T:p.T350I,PDE9A:NM_001001574:exon13:c.C1094T:p.T365I,PDE9A:NM_001001581:exon13:c.C1151T:p.T384I,PDE9A:NM_001001584:exon13:c.C731T:p.T244I,PDE9A:NM_001001585:exon13:c.C731T:p.T244I,PDE9A:NM_001001567:exon14:c.C1172T:p.T391I,PDE9A:NM_001001570:exon14:c.C1193T:p.T398I,PDE9A:NM_001001582:exon14:c.C1229T:p.T410I,PDE9A:NM_001001583:exon14:c.C1274T:p.T425I,PDE9A:NM_001315533:exon15:c.C1028T:p.T343I,PDE9A:NM_002606:exon15:c.C1352T:p.T451I	.	431	1089	2	0	0	2	0.000917431	.	.	.	2265188	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0518242996682	0.0002	0.000199681	0.0002	0	0	0	0	0.0002	0.0012	0.0006	0.0001423	22	154602	rs151254797	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0005	0.0004	6.102e-05	2.239e-05	0	0	1.875e-05	0.0009	9.67e-05	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.694e-05	0.0001	0.0001	9.622e-05	0	0.0003	0	0	0	0	0.0002	0	0.0002	0.058	0.41637	T	0.156	0.31833	T	0.019	0.26577	B	0.01	0.21540	B	0.039400	0.24176	N	0.456005	0.749253	0.33910	D	1.165	0.29723	L	-1.46	0.80983	T	-3.12	0.64710	D	0.286	0.32370	-0.7074	0.60080	T	0.265	0.63588	T	10	0.07613948	0.11855	T	0.051824	0.64821	D	0.233	0.53499	.	.	0.819678790864	0.81798	0.4745076944691091	0.47369	0.347432667826	0.36634	0.621842324734	0.55990	T	0.573833	0.85933	D	-0.224002	0.17449	T	-0.19424	0.55192	T	0.0768354598239424	0.09577	T	0.836416	0.53011	T	0.1457898	0.33403	0.112821415	0.27224	0.1457898	0.33403	0.112821415	0.27224	-8.337	0.67148	D	.	.	0.175	0.39596	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.073557	0.41320	21.3	0.99107171210645906	0.52623	0.61916	0.31625	D	AEFDBI	0.119595	0.23334	N	-0.36775647974955	0.26624	1.454506	-0.257618616462904	0.29509	1.653855	0.181141533913389	0.17873	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.89	2.04	0.25787	2.462000	0.44706	1.971000	0.29987	0.580000	0.29708	0.980000	0.35271	0.968000	0.29604	0.953000	0.50222	0.1607:0.6604:0.0:0.1788	5.566	0.16455	964	0.07719	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0.08333	585.83	65	chr21	42765490	.	C	T	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.177;DP=245;ExcessHet=0;FS=7.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.054;SOR=1.574	GT:AD:DP:GQ:PL	0/1:41,24:65:99:596,0,1114	5	0	1	0
chr21	44666834	44666834	C	T	exonic	KRTAP12-2	.	nonsynonymous SNV	KRTAP12-2:NM_181684:exon1:c.G53A:p.S18N	.	430	1065	27	0	0	27	0.0125174	.	.	.	2821845	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00279965897282	0.0009	0.000998403	0.0015	0	0.0004	0	0	0.0012	0.0023	0.0060	0.0001153	3	26028	rs143686476	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0011	0.0082	0.0074	0.0003	0.0006	7.695e-05	2.525e-05	0	0.0102	0.0009	0.0018	0.0061	0.0008	0.0009	0.0008	0.0008	0.0044	0.0007	0.0007	0.0029	0.0025	0.0001	0	0.0008	0	0	0	0	0.0013	0.0009	0.0044	0.007	0.59928	D	0.007	0.69154	D	0.802	0.45105	P	0.267	0.39770	B	.	.	.	.	1	0.08975	N	2.6	0.76081	M	4.06	0.03063	T	-2.32	0.51478	N	0.216	0.24135	-1.0601	0.11731	T	0.021	0.09056	T	9	0.0064796507	0.00147	T	0.003	0.05840	T	0.056	0.15993	.	.	0.3085936734	0.30458	0.03833993704929642	0.03779	0.17694831345	0.19912	0.28999209404	0.08921	T	0.084317	0.37250	T	-0.651385	0.00071	T	-0.705834	0.05512	T	0.0356965933962838	0.02927	T	0.387161	0.09535	T	0.15285218	0.34677	0.12656856	0.30480	0.15285218	0.34676	0.12656856	0.30479	-8.93	0.67245	D	.	.	0.224	0.45569	B	.	.	0.839474	0.12109	8.663	0.94844240990002304	0.25637	0.06805	0.12829	N	AEFDBHCI	0.033163	0.03882	N	-0.434545504500228	0.24268	1.309094	-0.683018874357377	0.17385	0.9241925	0.104310765254257	0.16471	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.64	-0.657	0.10858	-0.514000	0.06382	-2.835000	0.03313	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2521:0.216:0.5319:0.0	7.286	0.25516	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.000000	0.009511	0.002924	0.000000	0.000000	0.021341	0.011364	0.1667	6481.06	220	chr21	44666834	.	C	T	6481.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=844;ExcessHet=0.4139;FS=1.209;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=16;ReadPosRankSum=0.084;SOR=0.603	GT:AD:DP:GQ:PL	0/1:96,124:220:99:3508,0,2886	4	0	2	0
chr21	46651989	46651989	C	T	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242865:exon7:c.C838T:p.P280S	.	401	1074	47	0	0	47	0.0214123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0023	0.0081869	0.0050	0.0008	0.0021	0.0176	0	0.0031	0.0034	0.0120	0.0045924	710	154602	rs77776707	0.0034	0.0034	0.0031	0.0037	0.0155	0.0033	0.0033	0.0145	0.0141	0.0014	0.0024	0.0023	0.0155	0.0004	0.0130	0.0025	0.0050	0.0112	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0113	0.0104	0.0006	0	0.0065	0.0020	0.0139	0.0002	0.0136	0.0028	0.0071	0.0124	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	-1.3	0.32590	N	0.239	0.26957	-0.8865	0.49231	T	0.113	0.40422	T	6	0.003940493	0.00076	T	.	.	.	0.123	0.34020	.	.	0.240615537116	0.23683	.	.	.	.	.	.	.	.	.	.	-0.5881	0.00172	T	-0.603262	0.12539	T	0.00690702641187645	0.00078	T	0.362864	0.08399	T	.	.	.	.	.	.	.	.	-3.495	0.16361	T	.	.	0.140	0.30660	B	.	.	-0.119248	0.03527	0.672	0.94500977114343654	0.24974	0.00193	0.01117	N	AEFBI	0.019751	0.00715	N	-1.28976852687427	0.03797	0.1702898	-1.53768445602067	0.02061	0.09427351	0.935577632894049	0.27219	0.632932	0.41330	0	0.379588	0.06130	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	0.852	-1.7	0.07721	-0.359000	0.07683	-0.314000	0.10017	-0.600000	0.04616	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.6399:0.0:0.3601	6.415	0.20912	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006736	0.005051	0.013587	0.003497	0.000000	0.008621	0.003049	0.011364	0.08333	988.83	88	chr21	46651989	.	C	T	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.852;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.19;SOR=0.762	GT:AD:DP:GQ:PL	0/1:50,38:88:99:999,0,1439	5	0	1	0
chr22	17594584	17594584	C	T	exonic	ATP6V1E1	.	nonsynonymous SNV	ATP6V1E1:NM_001039366:exon7:c.G497A:p.R166H,ATP6V1E1:NM_001039367:exon7:c.G473A:p.R158H,ATP6V1E1:NM_001696:exon8:c.G563A:p.R188H	.	.	.	.	.	.	.	.	.	.	.	2888846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.00338761021601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489592862	1.039e-05	1.915e-05	1.513e-05	5.585e-06	0.0001	6.24e-06	4.95e-06	4.726e-05	3.045e-05	6.043e-05	0.0001	0	0	0	0	4.533e-06	3.347e-05	1.209e-05	5.931e-05	5.908e-05	9.022e-05	2.697e-05	0.0001	3.085e-05	2.216e-05	6.31e-05	4.317e-05	0.0001	0	6.573e-05	0	0	0	0.0068	0	0	0	0.021	0.53900	D	0.05	0.48080	T	0.002	0.09854	B	0.009	0.14300	B	0.000001	0.62929	D	0.054253	0.703435	0.30081	N	0.955	0.23872	L	.	.	.	-0.45	0.16187	N	0.162	0.21449	-0.7547	0.57689	T	0.151	0.47997	T	9	0.23519343	0.40575	T	0.003388	0.07603	T	0.129	0.35316	0.615	0.74884	0.123314135267	0.11883	0.5696102105940953	0.56889	0.542857424705	0.51379	0.628062844276	0.56871	T	0.113433	0.43047	T	-0.0595118	0.42983	T	-0.323261	0.42217	T	0.206493511795998	0.20769	T	0.694731	0.30434	T	0.22839046	0.45558	0.15165234	0.35713	0.22839046	0.45558	0.15165234	0.35712	-6.487	0.50186	T	0.13060722665719154	0.13755	0.079	0.11654	B	.;.;.;.	.;.;.;.	4.109846	0.61346	24.3	0.99381674286395849	0.61935	0.93167	0.57500	D	AEFGBHCI	0.652221	0.62569	D	-0.0196414809087403	0.40967	2.44214	0.089263474930862	0.44007	2.690862	0.999999996169574	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.94	3.94	0.44807	5.082000	0.64281	3.210000	0.36796	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	15.281	0.73481	878	0.29785	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	624.83	32	chr22	17594584	.	C	T	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.396;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=2.12;SOR=0.693	GT:AD:DP:GQ:PL	0/1:7,25:32:99:635,0,144	5	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	0.5	9200.51	133	chr22	18925165	.	A	G	9200.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.433;DP=571;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.332;SOR=0.723	GT:AD:DP:GQ:PL	0/1:78,55:133:99:1435,0,2179	2	2	2	0
chr22	19331450	19331450	C	G	exonic	HIRA	.	nonsynonymous SNV	HIRA:NM_003325:exon25:c.G3044C:p.R1015T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0353227489854	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219239784	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	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	0.191	0.29823	T	0.194	0.28120	T	0.241	0.32965	B	0.196	0.36635	B	0.000001	0.62929	D	0.054768	0.999994	0.58761	D	2.015	0.55033	M	-0.38	0.72348	T	-2.12	0.48184	N	0.475	0.55972	-0.8284	0.53403	T	0.220	0.58266	T	10	0.2843014	0.46012	T	0.035323	0.56271	D	0.279	0.59619	.	.	0.676257273396	0.67350	0.6404389787147455	0.63978	0.88529838353	0.69962	0.653863191605	0.60535	T	0.393269	0.75272	T	0.119067	0.66279	D	-0.0667448	0.65858	T	0.75726979970932	0.43696	D	0.906909	0.67223	D	0.35990664	0.57828	0.15804584	0.36927	0.35990664	0.57829	0.15804584	0.36926	-5.949	0.56167	T	.	.	0.304	0.53332	B	.;.	.;.	2.967225	0.39537	21.0	0.95992530467147164	0.28391	0.96544	0.69671	D	AEFGBCI	0.625334	0.60857	D	-0.00629864189700655	0.41570	2.488816	0.139335573309591	0.46580	2.90167	0.999969565742072	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.85	0.43556	3.995000	0.56715	1.685000	0.28035	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9244:0.0:0.0756	13.628	0.61646	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	.	.	.	.	.	.	.	.	0.08333	702.83	41	chr22	19331450	.	C	G	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.043;DP=208;ExcessHet=0;FS=2.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.62;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,19:41:99:0|1:19331450_C_G:713,0,819:19331450	5	0	1	0
chr22	19331451	19331451	T	C	exonic	HIRA	.	nonsynonymous SNV	HIRA:NM_003325:exon25:c.A3043G:p.R1015G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0554388924173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320641684	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	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.017	0.61437	D	0.03	0.54159	D	0.241	0.32965	B	0.109	0.31370	B	0.000001	0.62929	D	0.054768	0.999986	0.54805	D	1.67	0.42885	L	-0.41	0.72678	T	-2.63	0.56466	D	0.462	0.49874	-0.8364	0.52885	T	0.225	0.58894	T	10	0.32355952	0.49691	T	0.055439	0.66233	D	0.347	0.66863	.	.	0.803429469081	0.80159	0.6042743418113422	0.60358	0.642628147257	0.57826	0.605949640274	0.53744	T	0.431462	0.77958	T	0.143464	0.68653	D	-0.0316999	0.68256	D	0.84378445148468	0.49639	D	0.860314	0.55431	D	0.54296756	0.69562	0.3060541	0.56631	0.54296756	0.69563	0.3060541	0.56630	-6.489	0.64568	T	.	.	0.238	0.47195	B	.;.	.;.	2.658210	0.34622	19.68	0.99421803626269833	0.63790	0.92962	0.56978	D	AEFGBCI	0.685881	0.64774	D	-0.124647117347902	0.36321	2.097889	-0.00623070116835735	0.39432	2.337983	0.971214705305767	0.29269	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.85	0.43556	3.365000	0.52060	4.314000	0.42978	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1462:0.8538	11.876	0.51829	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	.	.	.	.	.	.	.	.	0.08333	702.83	41	chr22	19331451	.	T	C	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.797;DP=211;ExcessHet=0;FS=2.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.27;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,19:41:99:0|1:19331450_C_G:713,0,819:19331450	5	0	1	0
chr22	21057111	21057111	A	G	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon8:c.A934G:p.R312G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0355255070313	.	0.000199681	6.068e-05	0	0	0.0021	0	0	0	0	1.29e-05	2	154602	rs574013863	3.716e-05	3.499e-05	3.074e-05	4.263e-05	0.0004	2.486e-05	2.025e-05	0.0002	0.0002	0	0	0	0.0004	0	0	1.577e-05	0.0001	0	3.94e-05	3.937e-05	5.139e-05	2.686e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.407e-05	0	0	0	0	0.0006	0	0	2.939e-05	0	0.0002	0.112	0.28900	T	0.126	0.35205	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.89	0.45636	T	-3.28	0.65627	D	0.424	0.46368	-1.0101	0.26886	T	0.132	0.44406	T	6	0.087513655	0.14981	T	0.035526	0.56403	D	0.161	0.41658	.	.	0.526078183539	0.52253	0.572514907351372	0.57179	.	.	.	.	.	0.015088	0.12720	T	-0.326611	0.06371	T	-0.370671	0.36811	T	0.619500721523646	0.37185	D	0.608739	0.23025	T	0.27287063	0.50356	0.4040933	0.64847	0.27287063	0.50356	0.4040933	0.64847	-8.985	0.67600	D	.	.	0.174	0.38153	B	.	.	3.407745	0.47254	22.4	0.99257745397226516	0.57088	0.55687	0.29927	D	AEFBCI	0.490445	0.52793	N	0.167192730047822	0.49629	3.161159	0.236043649052287	0.51860	3.364931	0.999999999968258	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	4.9	4.9	0.63643	2.900000	0.48386	10.476000	0.83369	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	1.0:0.0:0.0:0.0	11.268	0.48353	503	0.75780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	880.83	70	chr22	21057111	.	A	G	880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.058;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.695;SOR=0.61	GT:AD:DP:GQ:PL	0/1:33,37:70:99:891,0,765	5	0	1	0
chr22	21216026	21216026	G	A	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.C647T:p.P216L	.	652	859	11	0	0	11	0.00636206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	.	.	0.0235	0.0046	0.0175	0.0014	0.0592	0.0307	0.0137	0.0077	0.0001423	22	154602	rs4051627	9.559e-06	4.259e-05	6.303e-06	1.289e-05	0.0001	5.1e-06	4.03e-06	4.277e-05	2.604e-05	0.0001	0	0	0	2.158e-05	0	5.135e-06	1.907e-05	1.436e-05	2.42e-05	4.123e-05	3.1e-05	1.683e-05	8.057e-05	6.43e-06	2.78e-06	2.136e-05	1.092e-05	8.057e-05	0	0	0	0	0	0	0	0	0	0.014	0.54683	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.60951	0.32609	D	.	.	.	2.89	0.10196	T	-5.92	0.88963	D	0.189	0.22357	-0.9854	0.33735	T	0.052	0.22269	T	7	0.00782156	0.00178	T	.	.	.	0.152	0.39956	.	.	.	.	0.8048350542673778	0.80437	2.02496037696	0.94038	.	.	.	.	.	.	-0.228593	0.16836	T	-0.566135	0.15806	T	0.0821270620860859	0.10257	T	0.70423	0.31438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28835	B	.;.	.;.	1.835164	0.23315	15.97	0.98371724050633746	0.40760	0.68824	0.33949	D	AEFBI	0.493809	0.52987	N	-0.110800407276466	0.36922	2.140831	-0.256132902236971	0.29561	1.657122	7.25715180105101E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.97	1.97	0.25278	5.835000	0.69073	7.279000	0.58016	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.297000	0.24428	0.0:0.0:1.0:0.0	9.990	0.41037	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	30.85	12	chr22	21216026	.	G	A	30.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=86;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.85;MQRankSum=-2.173;QD=2.57;ReadPosRankSum=-1.074;SOR=0.072	GT:AD:DP:GQ:PL	0/1:10,2:12:41:41,0,316	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:12,3:15:73:73,0,332	0	0	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1755.92	87	chr22	23311788	.	T	TCCGG	1755.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.75;DP=317;ExcessHet=3.1439;FS=24.364;MLEAC=4;MLEAF=0.333;MQ=54.19;MQRankSum=-4.822;QD=8.02;ReadPosRankSum=0.251;SOR=2.113	GT:AD:DP:GQ:PL	0/1:76,11:87:99:233,0,3118	2	0	4	0
chr22	25041010	25041010	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.C3880T:p.P1294S	.	.	.	.	.	.	.	.	.	.	.	3272227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00352643412685	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200775683	4.443e-05	4.241e-05	4.556e-05	4.323e-05	0.0004	3.499e-05	3.203e-05	0.0001	8.053e-05	0	0	0	0	0	0.0004	4.204e-05	1.825e-05	0.0002	1.97e-05	1.97e-05	1.284e-05	2.688e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.939e-05	0	0	0.571	0.06164	T	0.108	0.37589	T	0.02	0.18235	B	0.034	0.22546	B	0.358904	0.04291	N	1.467820	1	0.08975	N	0.09	0.08384	N	.	.	.	-1.57	0.37955	N	0.063	0.03613	-1.0063	0.28065	T	0.049	0.21065	T	9	0.029720813	0.01098	T	0.003526	0.08000	T	0.015	0.02232	0.343	0.33626	0.0401082797425	0.02173	0.12336306123265686	0.12262	.	.	0.254927575588	0.04305	T	0.013989	0.11991	T	-0.313178	0.07470	T	-0.687635	0.06527	T	0.0311990430675906	0.02178	T	0.476552	0.14308	T	0.021541992	0.00762	0.033423174	0.02234	0.021541992	0.00761	0.033423174	0.02234	-2.906	0.09203	T	.	.	0.069	0.07745	B	.;.	.;.	-0.936457	0.00866	0.031	0.33767115446857243	0.02029	0.00685	0.02933	N	AEFBI	0.028641	0.02562	N	-1.81436154597329	0.00511	0.02199043	-1.91188426517866	0.00464	0.0205293	0.995653342384456	0.34247	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.57	-9.14	0.00598	-1.050000	0.03621	-1.253000	0.05900	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1056:0.2072:0.0:0.6871	9.840	0.40160	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	.	.	.	.	.	.	.	.	0.08333	751.83	73	chr22	25041010	.	C	T	751.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=280;ExcessHet=0;FS=3.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.479;SOR=1.134	GT:AD:DP:GQ:PL	0/1:44,29:73:99:762,0,1331	5	0	1	0
chr22	25952331	25952331	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon38:c.G5881A:p.V1961M,MYO18B:NM_032608:exon38:c.G5878A:p.V1960M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2126142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.473	0.118445661494	.	.	4.955e-05	0	0.0001	0.0004	0	0	0	7.612e-05	3.23e-05	5	154602	rs776608247	2.398e-05	2.463e-05	1.772e-05	3.031e-05	0.0003	1.741e-05	1.541e-05	0.0002	0.0002	0	2.249e-05	0	0.0003	0	0	4.5e-06	0.0002	7.014e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0004	8.14e-06	5.14e-06	6.837e-05	2.861e-05	2.406e-05	0	0	0	0.0004	0	0	0	0.0005	0	0.003	0.68238	D	0.025	0.56192	D	0.993	0.65571	D	0.623	0.51505	P	0.000183	0.48115	D	0.084271	0.998816	0.45492	D	2.445	0.70938	M	-2.35	0.88220	D	-2.57	0.55501	D	0.494	0.52740	0.777	0.94129	D	0.817	0.93830	D	10	0.26021194	0.43468	T	0.118446	0.79849	D	0.473	0.76619	0.13	0.03494	0.927139865977	0.92639	0.4655588356017486	0.46474	0.346571087648	0.36563	0.563602864742	0.47776	T	0.127978	0.45535	T	-0.0813964	0.39489	T	0.00278743	0.70516	D	0.534000039100647	0.33881	D	0.941306	0.78096	D	0.27172554	0.50243	0.29500327	0.55531	0.27172554	0.50243	0.29500327	0.55530	-10.837	0.78756	D	.	.	0.361	0.60254	A	.;.;.	.;.;.	5.063327	0.84400	28.3	0.99896940157652381	0.96971	0.98785	0.86822	D	AEFDGBHI	0.923904	0.90111	D	0.783576473737749	0.85067	8.467239	0.765846017886494	0.87336	9.18701	0.999999999999999	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	9.345000	0.96456	11.675000	0.94150	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:0.0:1.0:0.0	18.362	0.90321	934	0.15400	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1480.83	104	chr22	25952331	.	G	A	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=276;ExcessHet=0;FS=2.551;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.528;SOR=0.794	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1491,0,1245	5	0	1	0
chr22	28800510	28800510	-	GCC	exonic	XBP1	.	nonframeshift insertion	XBP1:NM_001079539:exon1:c.14_15insGGC:p.A7_P8insA,XBP1:NM_005080:exon1:c.14_15insGGC:p.A7_P8insA	.	424	1086	11	1	0	13	0.00594966	.	.	.	1245549	Autosomal_dominant_polycystic_liver_disease	Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	.	0.0035	0.0205	0	0	0	0.0049	0	0.0027	0.0005379	14	26028	rs528996789	0.0046	0.0043	0.0047	0.0044	0.0233	0.0045	0.0044	0.0218	0.0212	0.0233	0.0020	0.0003	0.0005	0.0005	0.0026	0.0046	0.0051	0.0025	0.0087	0.0087	0.0093	0.0080	0.0225	0.0083	0.0081	0.0213	0.0208	0.0225	0	0.0035	0	0.0002	0.0006	0.0068	0.0044	0.0085	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007559	0.017241	0.007396	0.009202	0.000000	0.000000	0.003425	0.008197	0.08333	427.79	34	chr22	28800510	.	T	TGCC	427.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.307;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.48;SOR=0.821	GT:AD:DP:GQ:PL	0/1:22,12:34:99:438,0,827	5	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.08333	969.83	78	chr22	37723190	.	G	A	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.35;DP=256;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.015;SOR=1.284	GT:AD:DP:GQ:PL	0/1:43,35:78:99:980,0,1038	5	0	1	0
chr22	39521955	39521955	A	T	exonic	ATF4	.	nonsynonymous SNV	ATF4:NM_001675:exon2:c.A409T:p.T137S,ATF4:NM_182810:exon3:c.A409T:p.T137S	.	431	1067	24	0	0	24	0.0111214	.	.	.	717458	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00667410026828	0.0052	0.00179712	0.0047	0.0018	0.0061	0	0.0017	0.0060	0.0066	0.0036	0.0044631	690	154602	rs150385569	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0060	0.0070	0.0069	0.0014	0.0055	0.0009	2.582e-05	0.0015	0.0078	0.0071	0.0050	0.0039	0.0043	0.0042	0.0046	0.0039	0.0070	0.0040	0.0039	0.0064	0.0062	0.0015	0.0011	0.0041	0.0017	0	0.0010	0.0342	0.0070	0.0053	0.0020	0.134	0.26300	T	0.381	0.15939	T	0.016	0.17332	B	0.02	0.19048	B	0.769846	0.06591	N	1.103000	1	0.08975	N	1.23	0.30720	L	1.91	0.23283	T	-0.3	0.11913	N	0.064	0.03841	-0.9767	0.35749	T	0.042	0.18202	T	10	0.0032248497	0.00055	T	0.006674	0.17614	T	0.058	0.16647	.	.	0.186928172975	0.18263	0.06111295903092459	0.06051	0.00428377551654	0.00378	0.221920505166	0.01424	T	0.312835	0.68463	T	-0.672476	0.00053	T	-0.734317	0.04134	T	0.00465677136106539	0.00050	T	0.366763	0.08556	T	0.047641173	0.08178	0.046785593	0.06597	0.047641173	0.08177	0.046785593	0.06597	-3.407	0.15150	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.102907	0.05042	1.587	0.77322230035010009	0.11827	0.40688	0.26492	N	AEFDBHCI	0.576500	0.57847	D	-0.995582958516228	0.08698	0.4088086	-1.03882691337148	0.08941	0.4421766	0.999999029203516	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.74	-1.46	0.08338	0.170000	0.16476	0.795000	0.21604	-0.074000	0.16291	0.002000	0.15269	0.009000	0.19889	0.810000	0.38174	0.4681:0.1372:0.3947:0.0	6.421	0.20945	895	0.25842	.;.;.	MGAT3	Vagina	.	.	.	Likely benign	0	0	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	0.004940	0.005682	0.004076	0.000000	0.000000	0.000000	0.009868	0.007874	0.08333	2053.83	147	chr22	39521955	.	A	T	2053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=346;ExcessHet=0;FS=1.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.037;SOR=0.836	GT:AD:DP:GQ:PL	0/1:73,74:147:99:2064,0,1858	5	0	1	0
chr22	43668901	43668901	A	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.T1329A:p.D443E,EFCAB6:NM_022785:exon16:c.T1785A:p.D595E	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00234534461318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	0	2.764e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.111622	0.19392	N	0.471211	1	0.08975	N	-1.025	0.01131	N	3.05	0.08721	T	1.56	0.00685	N	0.07	0.12484	-0.9543	0.40221	T	0.005	0.01761	T	10	0.029789597	0.01105	T	0.002345	0.04535	T	0.027	0.05988	0.266	0.21261	0.186928172975	0.18263	0.05529062074397573	0.05470	0.0517499230959	0.05696	0.225660026073	0.01662	T	7.95E-4	0.00383	T	-0.465866	0.00903	T	-0.90696	0.00455	T	0.0623195888455711	0.07530	T	0.306769	0.05902	T	0.025726845	0.01544	0.022268768	0.00255	0.025726845	0.01544	0.022268768	0.00255	-1.905	0.03184	T	.	.	0.067	0.06663	B	.;.	.;.	-0.373665	0.02312	0.245	0.21912345836090741	0.00857	0.01000	0.03786	N	AEFI	0.037407	0.05139	N	-1.73432132355146	0.00727	0.03139236	-1.66477147585343	0.01301	0.05870958	1.33200352351362E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-1.1	0.09367	0.081000	0.14677	0.181000	0.15632	-0.828000	0.02899	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.1605:0.4271:0.1443:0.2681	1.149	0.01672	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	.	.	.	.	.	.	.	.	0.08333	649.83	35	chr22	43668901	.	A	T	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.925;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.694;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:0|1:43668901_A_T:660,0,705:43668901	5	0	1	0
chr22	43668903	43668903	-	TTT	exonic	EFCAB6	.	nonframeshift insertion	EFCAB6:NM_198856:exon14:c.1326_1327insAAA:p.K442_D443insK,EFCAB6:NM_022785:exon16:c.1782_1783insAAA:p.K594_D595insK	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	0	2.764e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	649.79	35	chr22	43668903	.	C	CTTT	649.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.892;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:0|1:43668901_A_T:660,0,705:43668901	5	0	1	0
chr22	46433464	46433464	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon5:c.G4540A:p.V1514M,CELSR1:NM_014246:exon5:c.G4540A:p.V1514M	.	420	1099	3	0	0	3	0.00136302	.	.	.	3951204	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.602	0.169879445553	.	.	1.736e-05	0	9.037e-05	0	0	1.579e-05	0	0	1.29e-05	2	154602	rs754974275	3.558e-05	3.557e-05	3.131e-05	3.988e-05	0.0002	2.763e-05	2.502e-05	2.914e-05	2.589e-05	5.975e-05	6.711e-05	0	0	1.874e-05	0.0002	3.867e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	U	0.000000	0.997325	0.43798	D	2.8	0.81625	M	-1.41	0.80560	T	-2.75	0.58407	D	0.843	0.83885	0.505	0.90613	D	0.708	0.89977	D	10	0.9016833	0.89530	D	0.169879	0.84759	D	0.602	0.84291	0.659	0.79689	0.825488628067	0.82384	0.4888838281867351	0.48808	0.70152782101	0.61159	0.719940066338	0.70038	T	0.611023	0.87672	D	0.111356	0.65492	D	0.11915	0.78179	D	0.767348825931549	0.44281	D	0.986201	0.95317	D	0.41033846	0.61442	0.37420246	0.62591	0.41033846	0.61442	0.37420246	0.62591	-8.92	0.67181	D	.	.	0.532	0.65998	A	.	.	4.194416	0.63243	24.6	0.99732971487900846	0.82904	0.92335	0.55474	D	AEFDGBHCI	0.824368	0.74428	D	0.558813204050671	0.70620	5.528427	0.397612838905227	0.61416	4.34158	1.0	0.98316	0.706298	0.61202	0	0.218748	0.04544	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.62	4.62	0.56946	7.281000	0.77985	7.398000	0.58557	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:1.0:0.0:0.0	17.442	0.87459	969	0.06854	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1410.83	109	chr22	46433464	.	C	T	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.941;DP=316;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.046;SOR=0.522	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1421,0,1198	5	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3978.73	88	chr22	49922304	.	C	*	3978.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=379;ExcessHet=3.1439;FS=0.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.817;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,51:88:99:0|1:49922284_CG_C:1865,0,1278:49922284	5	0	1	0
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN	.	434	1059	25	4	0	33	0.0153417	.	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.012876	0.000000	0.018349	0.013889	0.000000	0.000000	0.017857	0.028302	0.08333	98.83	11	chr22	50201141	.	C	G	98.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.998;DP=93;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=2.04;SOR=0.76	GT:AD:DP:GQ:PL	0/1:6,5:11:99:109,0,162	5	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1	1097.7	339	chrX	6533750	.	C	T	1097.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.95;DP=1302;ExcessHet=0;FS=24.526;MLEAC=1;MLEAF=0.1;MQ=48.17;MQRankSum=-3.229;QD=3.24;ReadPosRankSum=-0.973;SOR=2.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,48:339:99:0|1:6533736_G_C:1107,0,11976:6533736	4	0	1	1
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2121.79	178	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	2121.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.96;DP=1204;ExcessHet=0;FS=46.497;MLEAC=1;MLEAF=0.083;MQ=47.45;MQRankSum=1.63;QD=11.92;ReadPosRankSum=0.173;SOR=1.585	GT:AD:DP:GQ:PL	0/1:86,92:178:99:2132,0,3040	5	0	1	0
chrX	7350061	7350061	G	A	exonic	STS	.	nonsynonymous SNV	STS:NM_000351:exon10:c.G1537A:p.A513T,STS:NM_001320753:exon10:c.G1537A:p.A513T,STS:NM_001320754:exon10:c.G1537A:p.A513T,STS:NM_001320750:exon11:c.G1573A:p.A525T,STS:NM_001320752:exon11:c.G1537A:p.A513T,STS:NM_001320751:exon12:c.G1573A:p.A525T	Ichthyosis, X-linked, X-linked recessive	1	1517	2	2	0	6	0.00197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0376783126066	.	0.0010596	0.0004	0	0	0	0	0	0	0.0037	0.0004075	63	154602	rs746909152	0.0002	0.0002	0.0001	0.0003	0.0030	0.0001	0.0001	0.0026	0.0025	3.788e-05	0	0	0	0	0.0002	0	0.0002	0.0030	5.346e-05	6.09e-05	3.854e-05	8.72e-05	0.0022	2.318e-05	1.559e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0022	0.454	0.08891	T	0.469	0.12281	T	0.0	0.02946	B	0.0	0.01387	B	0.759672	0.06532	N	1.122620	1	0.08975	N	0.035	0.08059	N	-3.26	0.93587	D	-0.7	0.19933	N	0.024	0.00445	-0.4970	0.68758	T	0.482	0.80220	T	10	0.0034903586	0.00062	T	0.037678	0.57762	D	0.216	0.50959	0.266	0.21261	0.329587890251	0.32573	0.350531285132491	0.34967	0.261322048144	0.28684	0.240562260151	0.02841	T	0.50977	0.82645	D	-0.534799	0.00360	T	-0.544343	0.17872	T	0.0168821804441894	0.00440	T	0.415058	0.10864	T	0.056251317	0.11043	0.07429582	0.16237	0.056251317	0.11043	0.07429582	0.16236	-3.855	0.21629	T	.	.	0.068	0.02861	B	.	.	-1.518889	0.00284	0.005	0.82729393621576319	0.14344	0.03514	0.08693	N	AEFI	.	.	.	.	.	.	.	.	.	0.999967763394297	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	-7.24	0.01326	0.043000	0.13855	-3.704000	0.02593	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5929:0.1886:0.2185:0.0	8.356	0.31490	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2270.83	152	chrX	7350061	.	G	A	2270.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.871;DP=329;ExcessHet=0;FS=0.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.153;SOR=0.616	GT:AD:DP:GQ:PL	0/1:70,82:152:99:2281,0,1918	5	0	1	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	195.06	117	chrX	10469693	.	T	C	195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.927;DP=342;ExcessHet=0.4139;FS=85.852;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.607;SOR=5.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,21:117:99:0|1:10469688_G_A:146,0,2228:10469688	4	0	2	0
chrX	44242179	44242179	T	C	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon8:c.A1222G:p.I408V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00337783499598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328085709	2.74e-06	2.732e-06	1.362e-06	5.545e-06	3.569e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.569e-06	0	0	8.935e-06	8.703e-06	1.285e-05	0	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	.	.	.	0.522	0.10391	T	0.001	0.07471	B	0.002	0.06944	B	0.464478	0.12352	N	0.796966	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	0.079	0.05414	-1.0350	0.18857	T	0.130	0.43968	T	10	0.038385093	0.02253	T	0.003378	0.07572	T	0.073	0.21317	0.233	0.16155	0.0934897674506	0.08844	0.47769500039564183	0.47689	0.0700343318132	0.07844	0.240552768111	0.02840	T	0.001993	0.01403	T	-0.386669	0.02826	T	-0.793199	0.02078	T	0.0205063573526979	0.00750	T	0.50095	0.15685	T	0.02818373	0.02117	0.041372195	0.04687	0.02818373	0.02116	0.041372195	0.04687	-4.093	0.25187	T	.	.	0.08	0.07793	B	.	.	-0.722345	0.01269	0.066	0.18811195025424146	0.00608	0.07201	0.13226	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998076956797057	0.36393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9	-1.22	0.09005	-0.460000	0.06797	0.285000	0.16810	-0.759000	0.03520	0.005000	0.17040	0.994000	0.32194	0.029000	0.12982	0.1819:0.2219:0.1008:0.4954	1.539	0.02398	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	436.83	62	chrX	44242179	.	T	C	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.327;DP=223;ExcessHet=0;FS=1.027;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=-2.068;SOR=0.666	GT:AD:DP:GQ:PL	0/1:41,21:62:99:447,0,1056	5	0	1	0
chrX	47627296	47627296	G	A	exonic	CFP	.	nonsynonymous SNV	CFP:NM_001145252:exon5:c.C611T:p.P204L,CFP:NM_002621:exon6:c.C611T:p.P204L	Properdin deficiency, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	743348	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0083	0.0113907	0.0037	0.0331	0.0014	0	0	3.053e-05	0	0	0.0024062	372	154602	rs8177076	0.0008	0.0008	0.0008	0.0006	0.0236	0.0007	0.0007	0.0221	0.0215	0.0236	0.0021	0	0	0	0.0019	3.464e-05	0.0019	3.782e-05	0.0070	0.0071	0.0073	0.0064	0.0238	0.0066	0.0065	0.0224	0.0218	0.0238	0	0.0032	0	0	0	0	0.0002	0.0072	0	0.223	0.22400	T	0.348	0.21545	T	0.05	0.22331	B	0.052	0.25551	B	0.820717	0.06882	N	1.077200	1	0.08975	N	1.87	0.49600	L	0.31	0.58613	T	-2.4	0.54546	N	0.347	0.38848	-1.0046	0.28577	T	0.067	0.27572	T	10	0.0074133575	0.00169	T	.	.	.	0.031	0.07369	.	.	0.171220215726	0.16700	0.2683859628761004	0.26751	0.756336983159	0.64023	0.27356082201	0.06611	T	0.21669	0.57892	T	-0.613305	0.00121	T	-0.634149	0.10102	T	0.010029269367234	0.00134	T	0.849315	0.58827	T	0.19504835	0.41278	0.22941189	0.48012	0.25442898	0.48471	0.23296745	0.48471	-5.744	0.44083	T	0.4104229984572134	0.50083	0.084	0.23709	B	.;.;.;.	.;.;.;.	1.744348	0.22197	15.52	0.8389648523221126	0.14981	0.22800	0.21867	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999987500329648	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	3.6	0.40374	0.710000	0.25421	4.273000	0.42854	0.676000	0.76740	0.063000	0.21864	0.999000	0.35428	0.096000	0.18090	0.2177:0.0:0.7823:0.0	6.514	0.21437	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011080	0.013889	0.020408	0.007905	0.000000	0.000000	0.000000	0.005263	0.08333	1771.83	116	chrX	47627296	.	G	A	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=304;ExcessHet=0;FS=1.498;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.699;SOR=0.532	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1782,0,1333	5	0	1	0
chrX	48060012	48060012	G	A	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.C430T:p.R144C,ZNF630:NM_001190255:exon5:c.C388T:p.R130C,ZNF630:NM_001282201:exon5:c.C430T:p.R144C,ZNF630:NM_001282202:exon5:c.C58T:p.R20C	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0071	0.0103311	0.0026	0.0244	0.0006	0	0	0	0	0	0.0018887	292	154602	rs139073512	0.0007	0.0007	0.0008	0.0006	0.0225	0.0007	0.0007	0.0209	0.0204	0.0225	0.0010	0	3.318e-05	0	0.0022	6.312e-05	0.0020	3.708e-05	0.0072	0.0074	0.0079	0.0056	0.0250	0.0068	0.0066	0.0235	0.0229	0.0250	0	0.0022	0	0	0	0	0.0001	0.0072	0	0.002	0.72154	D	0.031	0.70582	D	0.204	0.29802	B	0.057	0.26280	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.21	0.08371	T	-3.0	0.71157	D	0.145	0.19459	-0.9673	0.37754	T	0.005	0.01506	T	9	0.0037662983	0.00070	T	.	.	.	0.065	0.18881	.	.	0.0954503805726	0.09146	0.05943743726777388	0.05883	0.0395574204048	0.04223	0.257555603981	0.04604	T	0.045015	0.26992	T	-0.657802	0.00065	T	-0.698067	0.05932	T	0.0186952376385501	0.00582	T	0.292471	0.36163	T	0.18808818	0.40292	0.22986598	0.48071	0.18808818	0.40291	0.22986598	0.48070	-6.475	0.50093	T	.	.	0.268	0.50269	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.726573	0.10958	7.622	0.77279385234553188	0.11810	0.02015	0.06057	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.00262184388926485	0.09584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.33	-1.42	0.08446	-1.207000	0.03118	-12.020000	0.00557	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.502000	0.29062	0.2923:0.4055:0.3022:0.0	3.733	0.08026	556	0.71678	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004831	0.006803	0.011152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2181.83	166	chrX	48060012	.	G	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.15;SOR=0.647	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2192,0,2076	5	0	1	0
chrX	49067852	49067852	G	A	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.G1738A:p.A580T,CCDC120:NM_001163322:exon10:c.G1597A:p.A533T,CCDC120:NM_001163323:exon10:c.G1597A:p.A533T,CCDC120:NM_001271835:exon10:c.G1633A:p.A545T,CCDC120:NM_001271836:exon10:c.G1633A:p.A545T,CCDC120:NM_033626:exon10:c.G1633A:p.A545T	.	434	1082	3	3	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00855815387058	0.0010	0.000529801	0.0021	0.0005	0	0	0	0.0041	0	0.0004	0.0010284	159	154602	rs181634176	0.0019	0.0019	0.0019	0.0018	0.0097	0.0018	0.0018	0.0073	0.0064	0.0008	0.0004	0.0035	0	0.0002	0.0097	0.0021	0.0020	0.0008	0.0012	0.0013	0.0014	0.0009	0.0021	0.0011	0.0010	0.0018	0.0017	0.0003	0	0.0004	0.0023	0	0.0003	0	0.0021	0.0007	0.0014	0.034	0.44029	D	0.561	0.13518	T	0.586	0.38931	P	0.328	0.42011	B	0.094345	0.20177	N	0.491510	1	0.08975	N	1.39	0.34934	L	.	.	.	-0.22	0.10480	N	0.033	0.06190	-1.0448	0.15884	T	0.100	0.37188	T	9	0.008343816	0.00189	T	0.008558	0.22631	T	0.105	0.29889	.	.	0.262679179196	0.25893	0.29676847803601253	0.29589	.	.	0.587219178677	0.51102	T	0.012981	0.11314	T	-0.415217	0.01836	T	-0.374444	0.36370	T	0.00698735719855717	0.00079	T	0.70163	0.31127	T	0.048113495	0.08333	0.10345749	0.24823	0.048113495	0.08333	0.10345749	0.24822	-4.557	0.32497	T	.	.	0.073	0.08997	B	.;.;.;.;.	.;.;.;.;.	1.845244	0.23444	16.02	0.99828795108452451	0.91112	0.37000	0.25662	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.984015578516517	0.30650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.16	3.3	0.36912	2.152000	0.41897	1.554000	0.27312	0.614000	0.49286	0.861000	0.30630	0.016000	0.20520	0.833000	0.39279	0.1299:0.0:0.8701:0.0	6.910	0.23509	14	0.98855	.;.;.;.;.	.	.	.	.	.	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	0.010029	0.000000	0.007477	0.028226	0.000000	0.011905	0.004762	0.005587	0.08333	272.83	47	chrX	49067852	.	G	A	272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.45;DP=231;ExcessHet=0;FS=2.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=1.33;SOR=1.179	GT:AD:DP:GQ:PL	0/1:34,13:47:99:283,0,911	5	0	1	0
chrX	50470362	50470362	G	A	exonic	DGKK	.	nonsynonymous SNV	DGKK:NM_001013742:exon1:c.C317T:p.A106V	.	441	1071	2	2	6	12	0.0027933	.	.	.	743390	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00635762	0.0013	0.0120	0.0012	0	0	8.505e-05	0.0017	0	0.0010931	169	154602	rs188669823	0.0005	0.0005	0.0005	0.0004	0.0145	0.0005	0.0004	0.0133	0.0129	0.0145	0.0016	0	0	0	0.0020	4.159e-05	0.0011	0.0001	0.0037	0.0039	0.0040	0.0031	0.0128	0.0034	0.0033	0.0118	0.0113	0.0128	0	0.0013	0	0	0	0.0092	0	0.0039	0	.	.	.	0.27	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0032515526	0.00055	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.05946309270497902	0.05886	.	.	0.40396386385	0.25620	T	0.01173	0.10420	T	-0.895231	0.00000	T	-1.04639	0.00070	T	.	.	.	0.985301	0.94937	D	0.025654312	0.01529	0.08353947	0.19151	0.025654312	0.01529	0.08353947	0.19151	-7.343	0.56501	T	.	.	0.098	0.16054	B	.	.	-0.881733	0.00956	0.037	0.85968991013677321	0.16228	0.00346	0.01789	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999907859107743	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	0.0483456	0.07872	2.56	-5.12	0.02674	-2.783000	0.00842	0.567000	0.19568	-0.195000	0.09104	0.000000	0.06391	0.035000	0.21413	0.000000	0.00833	0.2456:0.0:0.6012:0.1532	5.653	0.16903	799	0.44747	.	.	.	.	.	.	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	0.004135	0.013793	0.007421	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	828.83	72	chrX	50470362	.	G	A	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.195;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-2.553;SOR=0.602	GT:AD:DP:GQ:PL	0/1:37,35:72:99:839,0,1081	5	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	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:119,460:579:99:12917,0,1803	0	0	6	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:100,323:433:99:9562,0,1905	0	0	6	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	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:77,205:282:99:6273,0,1869	0	0	6	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	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:63,148:211:99:5209,0,1927	0	0	6	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2587.96	178	chrX	55146283	.	C	T	2587.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.931;DP=1031;ExcessHet=3.1439;FS=3.064;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-1.88;SOR=0.618	GT:AD:DP:GQ:PL	0/1:108,70:178:99:1785,0,3679	2	0	4	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,24:292:99:0|1:74591902_T_A:201,0,11171:74591902	1	0	5	0
chrX	85304353	85304353	C	T	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon14:c.G1556A:p.R519H,POF1B:NM_024921:exon14:c.G1556A:p.R519H	Premature ovarian failure 2B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0026402822424	.	.	8.344e-05	0	0.0007	0	0	0	0	0.0001	5.82e-05	9	154602	rs774259150	2.241e-05	2.367e-05	1.926e-05	2.905e-05	0.0003	1.516e-05	1.274e-05	0.0002	0.0001	0	0.0003	0	3.428e-05	0	0	1.087e-05	2.236e-05	4.071e-05	1.804e-05	2.613e-05	2.579e-05	0	3.801e-05	3e-06	1.12e-06	6.3e-06	2.36e-06	0	0	0	0	0	0	0	3.801e-05	0	0	0.137	0.25979	T	0.267	0.22561	T	0.007	0.14184	B	0.008	0.13708	B	0.000686	0.42383	N	0.232989	0.642577	0.30603	N	1.5	0.37844	L	2.69	0.12268	T	-2.14	0.48523	N	0.091	0.06990	-1.0510	0.14119	T	0.022	0.09330	T	10	0.025731891	0.00758	T	0.00264	0.05377	T	0.034	0.08419	0.111	0.02112	0.235038932564	0.23097	0.125146134774966	0.12440	0.219309380076	0.24467	0.336680591106	0.15940	T	0.222131	0.58589	T	-0.587096	0.00175	T	-0.772231	0.02695	T	0.080742691996695	0.10082	T	0.835416	0.50550	T	0.10728389	0.25367	0.11678676	0.28192	0.10728389	0.25367	0.11678676	0.28191	-4.594	0.32096	T	.	.	0.075	0.05360	B	.;.	.;.	2.086198	0.26537	17.15	0.98256857535621023	0.39630	0.53196	0.29313	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0125546278166533	0.12343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	3.67	0.41236	0.999000	0.29358	-0.264000	0.10402	0.599000	0.40250	0.998000	0.41325	0.004000	0.18990	0.997000	0.79791	0.0:0.7458:0.0:0.2542	8.815	0.34148	877	0.30165	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	446.83	29	chrX	85304353	.	C	T	446.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.42;DP=158;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=2.04;SOR=0.793	GT:AD:DP:GQ:PL	0/1:10,19:29:99:457,0,212	5	0	1	0
chrX	93672191	93672191	C	A	exonic	NAP1L3	.	nonsynonymous SNV	NAP1L3:NM_004538:exon1:c.G1114T:p.V372L	.	429	1090	1	2	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00270932389562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.463e-06	5.463e-06	4.084e-06	8.251e-06	7.388e-05	1.97e-06	1.29e-06	2.523e-05	1.461e-05	0	0	0	0	0	0	1.187e-06	2.169e-05	7.388e-05	0	8.709e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.343	0.12592	T	0.438	0.13403	T	0.438	0.35858	B	0.109	0.31370	B	0.002722	0.36034	N	0.267267	0.998345	0.22212	N	1.305	0.32671	L	0.75	0.50192	T	-2.12	0.48184	N	0.077	0.05162	-1.0598	0.11805	T	0.052	0.22037	T	10	0.19779253	0.35723	T	0.002709	0.05579	T	0.122	0.33800	0.709	0.84509	0.395441342475	0.39163	0.6043843586056695	0.60369	0.220482362974	0.24593	0.362666368484	0.19773	T	0.042006	0.27527	T	-0.386447	0.02835	T	-0.792881	0.02086	T	0.18413425116686	0.19492	T	0.769823	0.39947	T	0.09325783	0.21899	0.099532515	0.23768	0.09325783	0.21898	0.099532515	0.23768	-6.45	0.49899	T	.	.	0.141	0.30842	B	.;.	.;.	0.831287	0.12026	8.584	0.71241912507003069	0.09563	0.59446	0.30918	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999856806289598	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.51	-2.76	0.05547	0.189000	0.16845	0.858000	0.22201	-0.182000	0.10109	0.965000	0.33920	0.998000	0.33993	0.972000	0.54974	0.1363:0.3378:0.222:0.3039	1.119	0.01615	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1521.83	140	chrX	93672191	.	C	A	1521.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.013;DP=311;ExcessHet=0;FS=0.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.271;SOR=0.626	GT:AD:DP:GQ:PL	0/1:83,57:140:99:1532,0,2319	5	0	1	0
chrX	101491684	101491684	T	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.T3095C:p.I1032T	.	434	1067	11	10	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00397351	0.0085	0	0	0	0	0.0028	0.0115	0.0135	0.0017076	264	154602	rs189010224	0.0076	0.0072	0.0074	0.0080	0.0147	0.0074	0.0074	0.0138	0.0134	0.0012	0.0018	0.0012	0.0003	0.0044	0.0049	0.0081	0.0067	0.0147	0.0050	0.0051	0.0053	0.0044	0.0132	0.0047	0.0046	0.0099	0.0087	0.0008	0	0.0013	0.0004	0.0006	0.0035	0	0.0088	0.0006	0.0132	.	.	.	0.304	0.20100	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	.	.	.	0.006	0.00044	-1.0131	0.25943	T	0.047	0.20195	T	4	0.0029310286	0.00047	T	.	.	.	0.012	0.01476	.	.	0.110078149338	0.10416	0.03857966321723369	0.03803	.	.	0.307763010263	0.11569	T	.	.	.	-1.00578	0.00000	T	-1.20648	0.00001	T	0.00184075748743393	0.00019	T	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32851	B	.	.	-0.401916	0.02206	0.220	0.54159297703291276	0.05082	0.00138	0.00846	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.979058251212702	0.29986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.35	-2.5	0.06015	-0.766000	0.04831	-0.233000	0.10659	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.1492:0.1649:0.1463:0.5396	2.151	0.03567	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2149.83	153	chrX	101491684	.	T	C	2149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=353;ExcessHet=0;FS=1.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.518;SOR=0.84	GT:AD:DP:GQ:PL	0/1:77,76:153:99:2160,0,2117	5	0	1	0
chrX	107601395	107601395	A	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.A3455G:p.E1152G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0257081115772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210339592	1.834e-06	1.821e-06	1.364e-06	2.798e-06	2.385e-06	3.1e-07	1.1e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.385e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.053	0.47336	T	.	.	.	.	.	.	0.605028	0.10921	N	0.819661	0.998719	0.21964	N	0.895	0.22405	L	1.82	0.25018	T	-1.49	0.36385	N	0.213	0.23758	-1.0318	0.19873	T	0.052	0.22192	T	8	0.20523992	0.36743	T	0.025708	0.48665	D	0.072	0.21020	0.236	0.16608	0.361328159215	0.35739	0.31934661233791595	0.31847	0.580823813372	0.53909	.	.	.	0.006423	0.15359	T	-0.201739	0.20554	T	-0.525746	0.19713	T	0.675305724143982	0.39575	D	0.737926	0.35508	T	0.15269496	0.34649	0.30972534	0.56986	0.15269496	0.34648	0.30972534	0.56985	-3.92	0.22602	T	.	.	0.149	0.38747	B	.;.	.;.	3.360467	0.46396	22.3	0.9991649254772399	0.98449	0.93671	0.58860	D	AEFBI	.	.	.	.	.	.	.	.	.	0.195084564669686	0.18048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.74	3.74	0.42108	3.612000	0.53888	7.618000	0.62188	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.569000	0.30626	1.0:0.0:0.0:0.0	9.595	0.38732	26	0.98304	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	916.83	70	chrX	107601395	.	A	G	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.177;SOR=0.601	GT:AD:DP:GQ:PL	0/1:37,33:70:99:927,0,970	5	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	64.5	77	chrX	135580144	.	G	C	64.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.534;DP=278;ExcessHet=3.1439;FS=273.052;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=0.229;SOR=9.327	GT:AD:DP:GQ:PL	0/1:49,20:77:7:7,0,671	2	0	4	0
chrX	137566825	137566825	-	CGC	exonic	ZIC3	.	nonframeshift insertion	ZIC3:NM_001330661:exon1:c.134_135insCGC:p.A55_F56insA,ZIC3:NM_003413:exon1:c.134_135insCGC:p.A55_F56insA	Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive;Heterotaxy, visceral, 1, X-linked, X-linked recessive;VACTERL association, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	257760	not_specified|not_provided|Heterotaxy,_visceral,_1,_X-linked|ZIC3-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0	0	0	0.0011	0	0.0016	0.0001537	4	26028	rs756241691	0.0043	0.0042	0.0049	0.0030	0.0051	0.0042	0.0041	0.0049	0.0049	0.0009	0.0008	0	0.0003	0.0011	0.0020	0.0051	0.0031	0.0018	0.0025	0.0025	0.0028	0.0017	0.0042	0.0022	0.0021	0.0037	0.0036	0.0010	0	0.0006	0	0	0.0012	0.0046	0.0042	0.0026	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1579.01	36	chrX	137566825	.	A	ACGC	1579.01	.	AC=2;AF=0.167;AN=12;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.07;SOR=1.061	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1599,108,0	5	1	0	0
chrX	141002744	141002744	A	T	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A51T:p.E17D	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.15425232554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434924062	1.002e-05	7.194e-05	1.089e-05	8.256e-06	1.847e-05	5.38e-06	3.93e-06	6.01e-06	4.38e-06	0	0	0	0	0	0	1.188e-05	0	1.847e-05	1.752e-05	0.0006	2.573e-05	0	1.868e-05	2.91e-06	1.09e-06	.	.	0	0	0	0	0	0	0.0046	1.868e-05	0	0	0.824	0.02928	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	0.58	0.02598	N	0.092	0.07125	-0.9449	0.41830	T	0.005	0.01833	T	7	0.15110585	0.28568	T	0.94116	0.99584	D	0.047	0.12962	0.352	0.35084	0.141422826196	0.13715	0.0015843850570725375	0.00146	.	.	.	.	.	0.003004	0.02402	T	-0.550116	0.00291	T	-1.02798	0.00093	T	0.0702587366104126	0.08688	T	0.327067	0.06771	T	0.20686755	0.42875	0.25268742	0.50902	0.20686755	0.42874	0.25268742	0.50901	-4.535	0.31344	T	.	.	0.110	0.21353	B	.	.	-0.298320	0.02624	0.329	0.081156221620374128	0.00058	0.00121	0.00759	N	AEFGI	.	.	.	.	.	.	.	.	.	3.20000514859358E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.102000	0.00334	-2.234000	0.04020	-4.039000	0.00045	0.926000	0.32145	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	57.83	240	chrX	141002744	.	A	T	57.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=490;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.66;MQRankSum=-8.436;QD=0.24;ReadPosRankSum=-0.613;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,19:240:68:0|1:141002744_A_T:68,0,8936:141002744	5	0	1	0
chrX	141906803	141906803	-	AGAGT	exonic	MAGEC1	.	frameshift insertion	MAGEC1:NM_005462:exon4:c.1399_1400insAGAGT:p.H467Qfs*18	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491074505	4.771e-05	4.749e-05	2.886e-05	8.558e-05	0.0007	3.704e-05	3.354e-05	0.0002	0.0001	3.832e-05	2.889e-05	0.0004	0	0	0.0007	2.512e-05	0.0001	0.0002	2.742e-05	2.623e-05	3.867e-05	0	3.812e-05	7.29e-06	3.02e-06	6.32e-06	2.37e-06	0	0	0	0.0004	0	0	0	3.812e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1175.79	186	chrX	141906803	.	C	CAGAGT	1175.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.448;DP=485;ExcessHet=0;FS=1.405;MLEAC=1;MLEAF=0.083;MQ=57.98;MQRankSum=-7.096;QD=6.32;ReadPosRankSum=5.62;SOR=0.839	GT:AD:DP:GQ:PL	0/1:146,40:186:99:1186,0,2230	5	0	1	0
chrX	141906805	141906805	-	TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	exonic	MAGEC1	.	stopgain	MAGEC1:NM_005462:exon4:c.1401_1402insTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG:p.S468Ffs*2	.	1	164	40	20	1	81	0.196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.952e-05	0.0001	4.778e-05	0.0001	0.0007	5.693e-05	5.197e-05	0.0002	0.0001	7.643e-05	2.85e-05	0.0007	0	0	0.0007	4.41e-05	0.0002	0.0002	2.958e-05	2.716e-05	4.04e-05	0	4.013e-05	7.86e-06	4.18e-06	6.65e-06	2.49e-06	0	0	0	0.0004	0	0	0	4.013e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8559.73	197	chrX	141906805	.	C	CTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	8559.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=524;ExcessHet=0;FS=8.565;MLEAC=1;MLEAF=0.083;MQ=58.13;MQRankSum=0.077;QD=25.32;ReadPosRankSum=1.07;SOR=0.367	GT:AD:DP:GQ:PL	0/1:0,58:197:99:6739,2152,2179	5	0	1	0
chrX	141907686	141907694	AGAGTCCTC	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.2282_2290del:p.Q764_P766del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.145e-05	0	0	0	0	2.091e-05	0	0	3.84e-05	1	26028	rs777970450	2.551e-05	2.55e-05	2.859e-05	1.928e-05	0.0024	1.769e-05	1.523e-05	0.0013	0.0010	0	0	0	0	0	0.0024	1.069e-05	0.0001	5.542e-05	1.858e-05	1.769e-05	2.617e-05	0	1.936e-05	3.09e-06	1.16e-06	.	.	0	0	0	0	0	0	0	1.936e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2979.79	164	chrX	141907685	.	GAGAGTCCTC	G	2979.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.885;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=-1.038;QD=18.17;ReadPosRankSum=1.12;SOR=0.657	GT:AD:DP:GQ:PL	0/1:86,78:164:99:2990,0,3348	5	0	1	0
chrX	149599565	149599565	C	T	exonic	TMEM185A	.	nonsynonymous SNV	TMEM185A:NM_001174092:exon5:c.G620A:p.G207E,TMEM185A:NM_032508:exon6:c.G797A:p.G266E	.	420	1084	18	0	0	18	0.00823422	.	.	.	2424077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.527	.	.	.	0.0090	0	0	0	.	0.0107	0	0	.	.	.	rs782032084	0.0057	0.0096	0.0082	0.0002	0.0063	0.0055	0.0055	0.0061	0.0060	0.0011	0.0032	0.0042	3.409e-05	0.0113	0.0048	0.0063	0.0054	0.0004	0.0039	0.0076	0.0052	0.0008	0.0056	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0036	0.0031	0	0.0093	0.0145	0.0056	0.0047	0.0004	.	.	.	0.003	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.73	0.26445	T	.	.	.	0.889	0.90476	-0.6719	0.61742	T	0.184	0.53331	T	10	0.010289013	0.00230	T	.	.	.	.	.	.	.	.	.	0.8568128047925844	0.85644	.	.	0.885326087475	0.94665	D	0.372878	0.73698	T	-0.144225	0.29219	T	0.0369747	0.72731	D	0.0948123463911389	0.11776	T	0.983002	0.94220	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.92581	P	.;.;.	.;.;.	4.714184	0.75770	26.4	0.99763465761409065	0.85254	0.97164	0.73066	D	AEFI	.	.	.	.	.	.	.	.	.	0.999976458047837	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37	4.37	0.51830	7.757000	0.84067	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.143	0.72302	889	0.27310	.;.;.	.	.	.	.	.	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	1	0	0.005602	0.000000	0.000000	0.032258	0.000000	0.000000	0.000000	0.000000	0.08333	132.83	173	chrX	149599565	.	C	T	132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.993;DP=353;ExcessHet=0;FS=25.692;MLEAC=1;MLEAF=0.083;MQ=47.79;MQRankSum=-4.182;QD=0.77;ReadPosRankSum=-2.527;SOR=3.312	GT:AD:DP:GQ:PL	0/1:154,19:173:99:143,0,4339	5	0	1	0
chrX	149932732	149932732	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G289A:p.E97K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0455746128969	0.0012	0.000529801	0.0011	0	0.0014	0	0	0.0017	0.0034	0	0.000815	126	154602	rs149390769	0.0023	0.0023	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0012	0.0011	0.0001	6.632e-05	0.0001	0	0.0027	0.0025	0	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0	0.0008	0	0.0003	0	0	0.0021	0.0021	0	0.072	0.34982	T	0.129	0.34837	T	0.002	0.09854	B	0.003	0.08700	B	0.174483	0.17277	N	0.600487	1	0.08975	N	1.15	0.29295	L	-3.06	0.92457	D	-2.27	0.50666	N	0.088	0.08506	-0.3069	0.74792	T	0.590	0.85303	D	10	0.0106579065	0.00236	T	0.045575	0.62047	D	0.148	0.39182	.	.	0.433011177183	0.42918	0.40281552380071295	0.40197	0.702820325813	0.61233	.	.	.	0.040084	0.25409	T	-0.471294	0.00834	T	-0.456233	0.27012	T	0.0154572592010672	0.00347	T	0.738626	0.35686	T	0.15915641	0.35767	0.13371705	0.32058	0.15915641	0.35767	0.13371705	0.32057	-4.417	0.29786	T	.	.	0.096	0.15564	B	.;.;.;.;.	.;.;.;.;.	1.819501	0.23120	15.89	0.94357346579017376	0.24712	0.09368	0.15138	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.319439230975613	0.19369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.22	1.31	0.20837	3.010000	0.49246	.	.	0.454000	0.21428	0.184000	0.24113	0.000000	0.08366	0.026000	0.12556	0.1829:0.7091:0.0:0.108	6.215	0.19860	484	0.77165	ASCH domain;ASCH domain;ASCH domain;ASCH domain;ASCH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000757	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1940.83	182	chrX	149932732	.	C	T	1940.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=357;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.083;MQ=39.75;MQRankSum=-4.352;QD=10.66;ReadPosRankSum=-0.519;SOR=0.643	GT:AD:DP:GQ:PL	0/1:97,85:182:99:1951,0,2261	5	0	1	0