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	PID2583-P	WT	HH	HZ	NC
chr1	974018	974018	-	G	exonic	PLEKHN1	.	frameshift insertion	PLEKHN1:NM_001160184:exon13:c.1516dupG:p.P508Afs*60,PLEKHN1:NM_001367552:exon14:c.1657dupG:p.P555Afs*60,PLEKHN1:NM_032129:exon14:c.1621dupG:p.P543Afs*60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.484e-05	0	0	0	0	2.764e-05	0	0.0003	3.84e-05	1	26028	rs760801758	3.385e-05	3.42e-05	3.296e-05	3.474e-05	0.0002	2.591e-05	2.334e-05	0.0001	0.0001	9.027e-05	0	3.857e-05	0	2.066e-05	0.0002	1.896e-05	5.018e-05	0.0002	5.255e-05	5.25e-05	5.141e-05	5.374e-05	0.0004	2.556e-05	1.83e-05	7.307e-05	3.035e-05	9.627e-05	0	0	0	0	0	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	574.29	42	chr1	974018	.	T	TG	574.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.614;DP=586;ExcessHet=0;FS=2.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.493;SOR=0.307	GT:AD:DP:GQ:PL	0/1:19,23:42:99:588,0,466	18	0	1	0
chr1	3430944	3430944	G	C	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3357C:p.E1119D,PRDM16:NM_199454:exon15:c.G3357C:p.E1119D	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	393	1120	9	0	0	9	0.00400178	.	.	.	557043	Left_ventricular_noncompaction_8|not_specified|not_provided	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00336082809073	.	.	1.85e-05	0	0	0	0	1.659e-05	0	6.626e-05	1.29e-05	2	154602	rs756442796	3.626e-05	3.626e-05	2.859e-05	4.401e-05	0.0012	2.828e-05	2.565e-05	0.0006	0.0004	0	2.237e-05	0	0	0	0.0012	3.598e-05	6.625e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.527	0.10245	T	0.02	0.18235	B	0.015	0.17295	B	0.986576	0.08059	N	0.990942	0.788987	0.34362	D	0.07	0.08264	N	3.3	0.06445	T	-0.82	0.22508	N	0.209	0.23253	-0.9562	0.39879	T	0.011	0.04181	T	10	0.09496546	0.16926	T	0.003361	0.07512	T	0.075	0.21907	0.074	0.00491	0.266724437049	0.26276	0.06764822377203893	0.06702	0.0646895154567	0.07223	0.344986796379	0.17181	T	0.003101	0.32088	T	-0.433991	0.01403	T	-0.753518	0.03350	T	0.0477503376568392	0.05099	T	0.741726	0.36078	T	0.04798517	0.08291	0.061627675	0.11930	0.04798517	0.08291	0.061627675	0.11930	-4.103	0.25335	T	.	.	0.087	0.16582	B	.;.;.;.;.	.;.;.;.;.	1.353639	0.17619	13.27	0.97730994109705538	0.35616	0.63941	0.32247	D	AEFBI	0.246205	0.36700	N	-0.667741646770977	0.16945	0.8677967	-0.607449673311407	0.19301	1.034951	0.0143071565302861	0.12579	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.14	0.422	0.15674	0.040000	0.13791	0.340000	0.17371	-0.108000	0.15293	0.941000	0.32681	0.982000	0.30508	0.006000	0.07323	0.1936:0.2011:0.2523:0.3531	0.514	0.00560	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	0.000000	0.005435	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	2116.33	185	chr1	3430944	.	G	C	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.919;DP=812;ExcessHet=0;FS=4.214;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.074;SOR=0.79	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2130,0,2419	18	0	1	0
chr1	3469481	3469481	A	G	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon6:c.A910G:p.S304G	.	434	1087	1	0	0	1	0.00045977	.	.	.	2764834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0101870471784	.	.	4.165e-05	0	0	0	0	7.616e-05	0	0	3.23e-05	5	154602	rs778961636	3.08e-05	3.078e-05	2.316e-05	3.853e-05	6.709e-05	2.348e-05	2.096e-05	2.116e-05	1.862e-05	0	6.709e-05	0.0001	0	0	0	2.968e-05	9.937e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.627	0.19710	T	0.408	0.14961	T	0.0	0.02946	B	0.004	0.10090	B	0.248056	0.15569	N	0.592259	0.990411	0.24342	N	-0.345	0.03330	N	1.56	0.29602	T	-0.83	0.27669	N	0.142	0.14622	-1.0619	0.11288	T	0.035	0.15117	T	10	0.042650312	0.03035	T	0.010187	0.26434	T	0.053	0.14996	0.471	0.54537	0.0666544352282	0.05500	0.30445655738515376	0.30358	0.212149430145	0.23708	0.316097617149	0.12830	T	0.032987	0.22724	T	-0.364126	0.03902	T	-0.574914	0.15002	T	0.00825879850311378	0.00099	T	0.618038	0.23687	T	0.07595058	0.17144	0.054071937	0.09229	0.07595058	0.17144	0.054071937	0.09229	-2.888	0.10943	T	.	.	0.045	0.00050	B	.;.;.;.	.;.;.;.	-0.330384	0.02488	0.290	0.69968169233267064	0.09143	0.12791	0.17482	N	AEFDBCI	0.074042	0.14829	N	-1.51858242339114	0.01727	0.07562263	-1.46252345470827	0.02659	0.1226745	0.968567132140281	0.29062	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.26	-1.69	0.07747	0.274000	0.18443	1.027000	0.23450	-0.717000	0.03845	0.353000	0.25784	0.998000	0.33993	0.127000	0.19450	0.4813:0.0:0.5187:0.0	11.142	0.47633	982	0.03397	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2972.33	176	chr1	3469481	.	A	G	2972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.163;DP=823;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.306;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,79:176:99:0|1:3469480_G_A:2986,0,3815:3469480	18	0	1	0
chr1	3869666	3869666	G	A	exonic	DFFB	.	nonsynonymous SNV	DFFB:NM_001282669:exon5:c.G644A:p.G215D,DFFB:NM_001320132:exon5:c.G425A:p.G142D,DFFB:NM_001320136:exon5:c.G380A:p.G127D,DFFB:NM_004402:exon5:c.G572A:p.G191D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0172888225235	.	.	8.35e-06	0	0	0	0	0	0	6.084e-05	6.5e-06	1	154602	rs761854521	6.844e-07	1.368e-06	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.654	0.06643	T	0.001	0.07471	B	0.003	0.08700	B	0.027037	0.25823	N	0.445190	1	0.08975	N	0.08	0.08321	N	1.72	0.26588	T	1.43	0.00805	N	0.128	0.12198	-0.9750	0.36125	T	0.020	0.08360	T	10	0.051713765	0.05094	T	0.017289	0.38928	T	0.033	0.08068	0.59	0.71874	0.0806252709748	0.07271	0.3403597511992712	0.33948	0.30244622589	0.32575	0.38594892621	0.23097	T	0.00616	0.18734	T	-0.429687	0.01489	T	-0.754362	0.03318	T	0.0157230567770013	0.00364	T	0.383062	0.09347	T	0.035353646	0.04144	0.059215058	0.11075	0.035353646	0.04144	0.059215058	0.11075	-3.627	0.18248	T	0.08089163037305883	0.04125	0.098	0.16407	B	.;.	.;.	-0.742294	0.01226	0.062	0.21717734478205047	0.00840	0.01815	0.05650	N	AEFDBCI	0.032583	0.03708	N	-1.51364196433966	0.01759	0.07705797	-1.49469728920924	0.02387	0.1097128	0.998539068954084	0.37148	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	-1.64	0.07874	0.267000	0.18318	-0.150000	0.11428	-0.145000	0.12313	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.5964:0.0:0.4036:0.0	10.859	0.46022	.	.	DNA fragmentation factor 40, C-terminal;DNA fragmentation factor 40, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	67	chr1	3869666	.	G	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.496;DP=753;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.153;SOR=0.565	GT:AD:DP:GQ:PL	0/1:40,27:67:99:632,0,1004	18	0	1	0
chr1	6219309	6219309	G	-	exonic	RNF207	.	frameshift deletion	RNF207:NM_207396:exon18:c.1807delG:p.G603Afs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.328e-05	0	8.664e-05	0	0	1.505e-05	0.0022	0	.	.	.	rs766235482	3.559e-05	3.762e-05	3.95e-05	3.164e-05	0.0001	2.764e-05	2.503e-05	5.805e-05	3.952e-05	0	0.0001	0	0	0	0	3.779e-05	4.971e-05	1.16e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2938.29	128	chr1	6219308	.	CG	C	2938.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.647;DP=742;ExcessHet=0;FS=1.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.96;ReadPosRankSum=1.86;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,76:128:99:0|1:6219308_CG_C:2952,0,1955:6219308	18	0	1	0
chr1	6219313	6219313	T	-	exonic	RNF207	.	frameshift deletion	RNF207:NM_207396:exon18:c.1811delT:p.L604Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.331e-05	0	8.67e-05	0	0	1.508e-05	0.0022	0	3.84e-05	1	26028	rs776629041	3.49e-05	3.625e-05	3.95e-05	3.026e-05	0.0001	2.698e-05	2.439e-05	5.806e-05	3.953e-05	0	0.0001	0	0	0	0	3.689e-05	4.97e-05	1.16e-05	1.315e-05	1.313e-05	1.286e-05	1.346e-05	6.55e-05	2.19e-06	8.2e-07	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2935.29	129	chr1	6219312	.	CT	C	2935.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=794;ExcessHet=0;FS=2.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=1.81;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,76:129:99:0|1:6219308_CG_C:2949,0,1990:6219308	18	0	1	0
chr1	6245377	6245377	C	A	exonic	HES3	.	nonsynonymous SNV	HES3:NM_001024598:exon4:c.C431A:p.P144H	.	392	1129	0	1	0	2	0.000884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0388820528019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.579e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.095	0.31235	T	0.004	0.74150	D	0.992	0.64738	D	0.615	0.51231	P	0.000007	0.00162	N	987.701000	1	0.08975	N	0.975	0.24501	L	1.44	0.32722	T	-1.99	0.45949	N	0.227	0.25499	-1.0414	0.16890	T	0.073	0.29707	T	10	0.15815675	0.29747	T	0.038882	0.58488	D	0.059	0.16972	0.202	0.11659	0.422040124859	0.41822	0.35018634826125405	0.34932	1.83701486892	0.92119	0.768205404282	0.77157	T	0.124956	0.45033	T	-0.268376	0.11939	T	-0.62328	0.10930	T	0.756438791751862	0.43648	D	0.411059	0.10645	T	0.124185346	0.29142	0.15642919	0.36625	0.124185346	0.29142	0.15642919	0.36624	-6.509	0.50356	T	.	.	0.132	0.28348	B	.	.	2.099603	0.26715	17.21	0.96700031055405389	0.30770	0.02893	0.07682	N	AEFDGBHCI	0.025533	0.01764	N	-0.562140681340929	0.20105	1.057407	-0.755498830936556	0.15588	0.8205384	0.999999999999993	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.1	1.15	0.19876	-0.451000	0.06869	1.344000	0.25758	0.451000	0.21329	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.0:0.7324:0.0:0.2676	5.637	0.16819	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	59	chr1	6245377	.	C	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.324;SOR=0.743	GT:AD:DP:GQ:PL	0/1:27,32:59:99:787,0,651	18	0	1	0
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	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	.	.	.	.	.	.	.	.	0.03125	62.55	35	chr1	7933279	.	T	C	62.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.803;DP=643;ExcessHet=0;FS=5.63;InbreedingCoeff=-0.0707;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.804;SOR=2.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,4:35:75:0|1:7933277_G_A:75,0,1290:7933277	15	0	1	3
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	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,4:34:78:0|1:7933277_G_A:78,0,1248:7933277	5	0	11	3
chr1	7933285	7933285	G	A	exonic	TNFRSF9	.	stopgain	TNFRSF9:NM_001561:exon7:c.C556T:p.Q186X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.332256	0.04138	N	1.435410	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.855	0.85132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366827	0.87775	D	0.289145	0.87619	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.175517	0.94728	34	0.99348834800104535	0.60493	0.10423	0.15934	N	AEFBI	0.048918	0.08399	N	0.241177414207673	0.53206	3.490411	-0.0555314215728076	0.37251	2.178615	0.420669811402195	0.20289	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	4.43	0.52967	1.197000	0.31819	2.034000	0.30268	0.676000	0.76740	0.002000	0.15269	0.019000	0.20708	0.139000	0.19909	0.0:0.0:1.0:0.0	12.735	0.56589	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	67.33	33	chr1	7933285	.	G	A	67.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.639;DP=639;ExcessHet=0;FS=8.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=0.314;SOR=2.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,4:33:81:0|1:7933277_G_A:81,0,1206:7933277	18	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,50:247:99:.:.:1248,0,6592:.	7	0	12	0
chr1	11964664	11964664	A	G	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon13:c.A1349G:p.Y450C,PLOD1:NM_001316320:exon14:c.A1490G:p.Y497C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626711	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.921	0.281552465126	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264798278	3.422e-06	3.42e-06	2.724e-06	4.127e-06	1.159e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000042	0.53742	D	0.127237	1	0.81001	D	3.095	0.87515	M	-1.88	0.84487	D	-8.26	0.96915	D	0.915	0.91736	0.705	0.93241	D	0.765	0.92012	D	10	0.96292174	0.95726	D	0.281552	0.90249	D	0.921	0.98003	.	.	0.987803124259	0.98767	0.938545271435765	0.93835	0.808570310498	0.66628	0.830451011658	0.86631	D	0.536703	0.84064	D	0.433814	0.91722	D	0.385368	0.91619	D	0.998193323612213	0.93480	D	0.996219	0.98659	D	0.74050736	0.80321	0.67025846	0.80653	0.74050736	0.80323	0.67025846	0.80654	-14.973	0.95789	D	0.780848889709554	0.86075	0.725	0.74013	P	.	.	5.220873	0.87624	29.3	0.99685969010419584	0.79574	0.99479	0.96535	D	AEDBI	0.968245	0.99072	D	0.855003610176622	0.89391	9.952562	0.798821908690314	0.89711	10.08914	0.999999989805542	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	9.325000	0.96006	11.120000	0.86527	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.920	0.63431	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1958.33	138	chr1	11964664	.	A	G	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=766;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.487;SOR=0.564	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1972,0,1417	18	0	1	0
chr1	12725328	12725328	C	T	exonic	AADACL3	.	nonsynonymous SNV	AADACL3:NM_001103170:exon4:c.C556T:p.R186W	.	436	1047	39	0	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0061	0.013778	0.0105	0.0018	0.0050	0.0476	0.0053	0.0082	0.0111	0.0114	0.0100775	1558	154602	rs17038445	0.0098	0.0098	0.0094	0.0102	0.0579	0.0097	0.0096	0.0559	0.0551	0.0013	0.0051	0.0164	0.0579	0.0050	0.0144	0.0082	0.0114	0.0131	0.0078	0.0078	0.0077	0.0079	0.0483	0.0074	0.0073	0.0433	0.0414	0.0015	0	0.0068	0.0184	0.0483	0.0044	0.0136	0.0083	0.0090	0.0147	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.131886	0.18606	N	0.564805	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.453	0.49055	-1.0349	0.18888	T	0.024	0.10284	T	10	0.003815055	0.00072	T	.	.	.	0.063	0.18251	.	.	.	.	0.62208130842895	0.62141	0.208207064433	0.23289	0.28148907423	0.07700	T	.	.	.	-0.444819	0.01211	T	-0.358275	0.38253	T	0.0948134441152243	0.11776	T	0.852615	0.53799	D	0.15103917	0.34356	0.1337338	0.32062	0.15103917	0.34356	0.1337338	0.32061	-9.923	0.73449	D	.	.	0.148	0.32733	B	.	.	3.268441	0.44732	22.0	0.99834496126988381	0.91542	0.07793	0.13790	N	AEFBI	0.126934	0.24408	N	0.123399649389749	0.47556	2.979665	-0.18309219842544	0.32156	1.826749	9.69845738903301E-4	0.08067	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	2.25	0.27340	0.124000	0.15557	1.036000	0.23518	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.634:0.0:0.366	9.292	0.36952	911	0.21964	Alpha/beta hydrolase fold-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	0.018630	0.005051	0.019022	0.017544	0.000000	0.008621	0.018293	0.034091	0.05263	2431.83	108	chr1	12725328	.	C	T	2431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.813;DP=806;ExcessHet=0.119;FS=1.09;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.049;SOR=0.813	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1184,0,1406	17	0	2	0
chr1	12795595	12795595	G	A	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_001294139:exon2:c.G289A:p.A97T,PRAMEF1:NM_023013:exon4:c.G1024A:p.A342T	.	420	1098	3	1	0	5	0.00227169	.	.	.	2296467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00159571975176	7.7e-05	0.000199681	0.0002	9.643e-05	0	0	0	7.494e-05	0	0.0008	0.0001358	21	154602	rs374857500	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	5.984e-05	6.718e-05	0	2.52e-05	0	0.0007	0.0002	0.0002	0.0010	9.204e-05	9.187e-05	7.719e-05	0.0001	0.0006	5.53e-05	4.367e-05	0.0002	9.018e-05	2.412e-05	0	6.555e-05	0	0	0	0	0.0001	0	0.0006	0.02	0.49613	D	0.183	0.29153	T	0.231	0.30614	B	0.156	0.34472	B	0.637215	0.05847	N	1.206780	1	0.08975	N	1.755	0.45626	L	2.99	0.09262	T	-0.69	0.19720	N	0.076	0.05037	-0.9535	0.40363	T	0.017	0.06950	T	10	0.040387243	0.02604	T	0.001596	0.02548	T	0.016	0.02506	.	.	0.168933306366	0.16529	0.08937455073721443	0.08870	0.350238801745	0.36867	0.368524193764	0.20620	T	0.006704	0.06126	T	-0.576435	0.00202	T	-0.686291	0.06606	T	0.0056767943315208	0.00062	T	0.049595	0.00352	T	0.02176814	0.00797	0.038595296	0.03764	0.02176814	0.00797	0.038595296	0.03763	-4.107	0.25394	T	.	.	0.092	0.13550	B	.	.	0.716881	0.10859	7.535	0.93472083498433678	0.23265	0.00370	0.01884	N	AEFI	0.027258	0.02196	N	-1.44972885141154	0.02219	0.09773499	-1.57297597016355	0.01822	0.08300852	1.40400939172018E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.56	-1.78	0.07527	-1.243000	0.03015	-11.959000	0.00561	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3602:0.0:0.3844:0.2554	2.039	0.03331	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002966	0.000000	0.004121	0.000000	0.000000	0.008772	0.000000	0.004167	0.05263	4362.81	140	chr1	12795595	.	G	A	4362.81	.	AC=2;AF=0.053;AN=38;DP=1669;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.75;QD=31.16;SOR=1.131	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4390,419,0	18	1	0	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	317.52	88	chr1	13345161	.	G	C	317.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=753;ExcessHet=0;FS=8.603;InbreedingCoeff=-0.0344;MLEAC=1;MLEAF=0.026;MQ=33.95;MQRankSum=-2.4;QD=3.61;ReadPosRankSum=1.39;SOR=2.111	GT:AD:DP:GQ:PL	0/1:69,19:88:99:331,0,1921	18	0	1	0
chr1	15316468	15316468	G	A	splicing	FHAD1	NM_052929:exon9:c.1260+1G>A	.	.	.	429	1075	16	2	0	20	0.00921659	1.0000	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0037	0	0.0024	0	0.0032	0.0051	0	0.0038	0.0010608	164	154602	rs201462752	0.0036	0.0034	0.0035	0.0036	0.0260	0.0035	0.0034	0.0226	0.0213	0.0010	0.0018	0.0080	2.798e-05	0.0041	0.0260	0.0034	0.0047	0.0043	0.0028	0.0028	0.0028	0.0028	0.0041	0.0026	0.0025	0.0031	0.0030	0.0009	0	0.0034	0.0055	0	0.0038	0.0136	0.0035	0.0066	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.470746	0.00841	T	-0.448017	0.27916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.890183	0.80279	27.3	0.98762480573291489	0.45831	0.85382	0.44509	D	AEFBI	.	.	.	0.155085710763718	0.49053	3.110054	0.168766950585334	0.48145	3.034431	0.382346784428827	0.19972	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.95944	0.65039	4.93	4.93	0.64394	4.260000	0.58633	11.517000	0.93029	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.085	0.64480	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	65	chr1	15316468	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.76;SOR=0.7	GT:AD:DP:GQ:PL	0/1:36,29:65:99:704,0,843	18	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	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	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	0/1:132,37:169:99:126,0,2994	12	0	5	2
chr1	16030622	16030622	A	G	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon14:c.A1441G:p.I481V,CLCNKA:NM_001042704:exon15:c.A1570G:p.I524V,CLCNKA:NM_004070:exon15:c.A1570G:p.I524V	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0565015306223	.	0.000399361	0.0002	0.0012	0.0002	0.0002	0	0.0002	0	0	0.0002781	43	154602	rs548924213	6.367e-05	7.593e-05	6.403e-05	6.331e-05	0.0002	5.299e-05	4.915e-05	6.512e-05	5.11e-05	8.962e-05	4.473e-05	0	0.0002	0	0	6.835e-05	4.969e-05	3.478e-05	7.878e-05	7.874e-05	5.138e-05	0.0001	0.0002	4.493e-05	3.509e-05	6.266e-05	4.288e-05	0.0001	0.0011	6.535e-05	0	0.0002	0	0	4.41e-05	0	0	0.048	0.40068	D	0.114	0.36901	T	0.002	0.09854	B	0.004	0.10090	B	0.000820	0.41658	D	0.250822	0.981082	0.39737	D	3.05	0.86762	M	-3.18	0.93111	D	-0.87	0.23590	N	0.524	0.58117	0.521	0.90842	D	0.773	0.92269	D	10	0.15552649	0.29312	T	0.056502	0.66628	D	0.488	0.77592	.	.	0.850132985281	0.84869	0.392918419042278	0.39206	0.196491442054	0.22011	0.488922178745	0.37288	T	0.160553	0.50445	T	0.062389	0.59913	T	-0.148159	0.59406	T	0.0829352622936592	0.10358	T	0.687731	0.31558	T	0.08154605	0.18743	0.095286965	0.22592	0.08154605	0.18743	0.095286965	0.22591	-9.196	0.69070	D	0.5570465684467326	0.62510	0.120	0.26794	B	.;.;.	.;.;.	3.101049	0.41791	21.4	0.97659792987809646	0.35189	0.95998	0.67072	D	AEFBI	0.576720	0.57860	D	-0.13954348510081	0.35681	2.05259	-0.111942913265401	0.34907	2.013363	0.00638951631034398	0.11204	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	4.663000	0.61226	11.073000	0.85618	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	0.8932:0.0:0.1068:0.0	7.013	0.24050	437	0.80299	.;.;.	.	.	.	.	.	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	0.001362	0.005882	0.000000	0.000000	0.000000	0.003788	0.02632	1597.33	152	chr1	16030622	.	A	G	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.635;DP=797;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.62;MQRankSum=-6.85;QD=10.51;ReadPosRankSum=-0.809;SOR=0.658	GT:AD:DP:GQ:PL	0/1:85,67:152:99:1611,0,2239	18	0	1	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:622,336:958:99:7637,0,22771	5	0	14	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:389,295:684:99:.:.:7640,0,13063:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:432,230:662:99:5441,0,15085	0	0	19	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:1696,251:1947:99:1829,0,46224	12	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:434,199:633:99:3493,0,10406	13	0	6	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:74:0|1:16579293_A_G:74,0,1122:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:74:0|1:16579293_A_G:74,0,1122:16579293	4	0	15	0
chr1	16758493	16758493	G	T	exonic	MST1L	.	stopgain	MST1L:NM_001271733:exon11:c.C1487A:p.S496X	.	351	1169	2	0	0	2	0.000854701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.274e-06	0	0	0	0	1.507e-05	0	0	3.84e-05	1	26028	rs776154290	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	331.33	576	chr1	16758493	.	G	T	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.302;DP=7265;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.11;MQRankSum=-0.089;QD=0.58;ReadPosRankSum=0.366;SOR=0.721	GT:AD:DP:GQ:PL	0/1:504,72:576:99:345,0,12925	18	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1174,99,0	1	7	11	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:38:99:1|0:26282291_C_T:1657,971,919:26282291	14	0	5	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9511.94	43	chr1	26282334	.	TGGGGCCG	*	9511.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.55;DP=897;ExcessHet=0.233;FS=18.578;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.394;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:43:99:1|0:26282291_C_T:1820,1141,1129:26282291	15	0	4	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9447.43	43	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	9447.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.65;DP=928;ExcessHet=0.233;FS=19.632;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.91;MQRankSum=0;QD=18.78;ReadPosRankSum=-1.19;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,15:43:99:1|0:26282291_C_T:1820,1141,1129:26282291	15	0	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28:43:90:1|1:26282291_C_T:1298,90,0:26282291	9	4	6	0
chr1	27418324	27418324	C	G	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_001201404:exon4:c.G364C:p.E122Q,WASF2:NM_006990:exon4:c.G364C:p.E122Q	.	429	1074	17	2	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0226103108088	0.0035	0.000798722	0.0032	0.0006	0.0012	0	0.0023	0.0052	0.0044	0.0005	0.0031306	484	154602	rs150650907	0.0038	0.0038	0.0039	0.0036	0.0041	0.0037	0.0036	0.0040	0.0040	0.0005	0.0016	0.0160	0	0.0022	0.0040	0.0041	0.0034	0.0006	0.0029	0.0029	0.0033	0.0025	0.0043	0.0027	0.0026	0.0039	0.0037	0.0006	0.0022	0.0020	0.0179	0	0.0022	0.0034	0.0043	0.0033	0.0002	0.006	0.61437	D	0.009	0.72224	D	0.986	0.61523	D	0.554	0.49340	P	0.000000	0.84330	D	0.048157	0.999999	0.58761	D	2.3	0.65703	M	0.76	0.49919	T	-2.55	0.55181	D	0.533	0.56489	-0.5264	0.67677	T	0.235	0.60160	T	10	0.009358048	0.00211	T	0.02261	0.45515	T	0.191	0.46948	.	.	0.228066490088	0.22430	0.26111864371395105	0.26024	.	.	0.500428497791	0.38888	T	0.517685	0.83073	D	-0.382147	0.03020	T	-0.321301	0.42431	T	0.0444692806161846	0.04506	T	0.965203	0.87125	D	0.5294593	0.68799	0.3332761	0.59166	0.5294593	0.68800	0.3332761	0.59165	-9.644	0.71753	D	.	.	0.290	0.52144	B	.;.	.;.	4.081960	0.60724	24.3	0.98768162741469456	0.45924	0.94154	0.60276	D	AEFGBHCI	0.910819	0.86925	D	0.723800241785311	0.81193	7.465077	0.728380266336098	0.84532	8.318636	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.601644	0.32324	0	0.735409	0.98432	0	.	.	5.37	5.37	0.76949	7.490000	0.80277	7.706000	0.66547	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.733	0.91708	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1129.33	113	chr1	27418324	.	C	G	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.212;DP=741;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.092;SOR=0.619	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1143,0,1434	18	0	1	0
chr1	29148591	29148591	C	A	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.G1304T:p.G435V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00588966019828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.501e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.037	0.51737	D	0.002	0.09854	B	0.002	0.06944	B	0.956056	0.08255	N	0.979536	0.686779	0.33287	D	0.69	0.16971	N	2.57	0.13552	T	-0.22	0.10480	N	0.159	0.16586	-1.0321	0.19777	T	0.023	0.09650	T	10	0.04528168	0.03580	T	0.00589	0.15340	T	0.026	0.05648	0.3	0.26683	0.0675242888579	0.06100	0.3610260803287025	0.36016	0.280662396977	0.30540	0.292278558016	0.09255	T	0.005682	0.05129	T	-0.258806	0.13039	T	-0.609534	0.12022	T	0.0865541344015449	0.10803	T	0.620638	0.23835	T	0.10890291	0.25749	0.072136045	0.15528	0.10890291	0.25748	0.072136045	0.15528	-4.659	0.32904	T	.	.	0.071	0.03811	B	.	.	1.557113	0.19948	14.52	0.93527406122129009	0.23347	0.42744	0.26946	N	AEFDBHCI	0.311889	0.41749	N	-0.964175417960093	0.09377	0.4435444	-0.931993449666819	0.11342	0.5771868	0.770787100787119	0.23668	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	-0.955	0.09828	0.234000	0.17708	0.113000	0.14809	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.2126:0.2009:0.5205:0.0661	7.422	0.26248	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3646.33	305	chr1	29148591	.	C	A	3646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.473;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.19;SOR=0.71	GT:AD:DP:GQ:PL	0/1:157,148:305:99:3660,0,4104	18	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	0.05263	2919.83	161	chr1	32771251	.	C	G	2919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.175;DP=890;ExcessHet=0.119;FS=2.24;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.6;SOR=0.696	GT:AD:DP:GQ:PL	0/1:68,93:161:99:2202,0,1705	17	0	2	0
chr1	34904549	34904549	G	T	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon3:c.C835A:p.P279T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00576784151772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.796	0.04117	T	0.213	0.30041	B	0.067	0.27542	B	0.004858	0.33331	N	0.201353	0.982045	0.24993	N	1.15	0.29295	L	1.83	0.24841	T	-0.85	0.23156	N	0.37	0.41162	-1.0565	0.12646	T	0.048	0.20553	T	10	0.13090485	0.24913	T	0.005768	0.14982	T	0.025	0.05312	0.371	0.38176	0.279809986126	0.27602	0.23995267391212202	0.23909	0.882173084537	0.69812	0.547115266323	0.45450	T	0.140768	0.47548	T	-0.16657	0.25755	T	-0.477043	0.24761	T	0.225882172584534	0.21754	T	0.765923	0.39354	T	0.118631914	0.27946	0.10431707	0.25051	0.118631914	0.27946	0.10431707	0.25050	-5.689	0.43596	T	.	.	0.069	0.03093	B	.;.	.;.	2.323066	0.29746	18.22	0.84187887245070192	0.15147	0.93607	0.58681	D	AEFBI	0.416638	0.48501	N	-0.147103633311609	0.35358	2.029898	-0.0155600894333745	0.39012	2.306727	0.00406606597333247	0.10401	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.02	2.96	0.33383	3.845000	0.55590	6.669000	0.56273	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2732:0.7268:0.0	14.838	0.69826	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	167	chr1	34904549	.	G	T	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.403;SOR=0.727	GT:AD:DP:GQ:PL	0/1:73,94:167:99:2369,0,1707	18	0	1	0
chr1	38874793	38874793	C	G	exonic	GJA9	.	nonsynonymous SNV	GJA9:NM_030772:exon2:c.G1306C:p.G436R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0619743541198	.	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs533049322	8.893e-06	8.893e-06	8.167e-06	9.625e-06	0.0001	4.96e-06	3.82e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.413	0.10052	T	0.345	0.17750	T	0.0	0.02946	B	0.001	0.04355	B	0.000003	0.00162	U	663.147000	1	0.08975	N	0.49	0.13296	N	-4.68	0.97989	D	-1.91	0.44471	N	0.117	0.12055	0.191	0.85758	D	0.794	0.93011	D	10	0.03518778	0.01756	T	0.061974	0.68504	D	0.280	0.59740	0.174	0.08014	0.208000267992	0.20380	0.11133286454895883	0.11062	0.0829428156774	0.09358	0.240979105234	0.02879	T	0.020	0.16069	T	-0.173707	0.24676	T	-0.305767	0.44113	T	0.036332765701379	0.03039	T	0.423358	0.11306	T	0.089105316	0.20808	0.0909616	0.21359	0.089105316	0.20808	0.0909616	0.21359	-2.998	0.10159	T	.	.	0.093	0.15788	B	.;.	.;.	0.296623	0.06725	3.236	0.75424704364813988	0.11070	0.17793	0.19990	N	AEFDGBCI	0.114913	0.22616	N	-1.17151415274143	0.05435	0.2477692	-1.20635748501796	0.05807	0.2777391	0.999904631890418	0.45458	0.554377	0.28877	0	0.475579	0.06741	0	0.491513	0.07944	0	0.567892	0.33627	0	.	.	3.92	-0.584	0.11115	1.854000	0.39008	-1.090000	0.06362	-0.187000	0.09635	0.003000	0.16062	0.000000	0.08366	0.029000	0.12982	0.0:0.4101:0.1617:0.4282	4.567	0.11586	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	.	.	.	.	.	.	.	.	0.02632	1247.33	115	chr1	38874793	.	C	G	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=1049;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.045;SOR=0.698	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1261,0,1726	18	0	1	0
chr1	39322623	39322623	C	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon31:c.C4060A:p.L1354M	.	430	1082	10	0	0	10	0.00459982	.	.	.	971333	Spectraplakinopathy_type_I|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.074181002059	0.0008	0.000199681	0.0011	0.0005	0.0017	0	0.0008	0.0013	0	0.0012	0.0010931	169	154602	rs141025026	0.0011	0.0011	0.0011	0.0012	0.0031	0.0011	0.0011	0.0020	0.0017	0.0003	0.0014	0.0012	0	0.0005	0.0031	0.0012	0.0011	0.0014	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	0.0002	0	0.0017	0.0014	0	0.0005	0.0034	0.0011	0.0033	0.0004	0.015	0.65419	D	0.078	0.65728	T	0.999	0.77913	D	0.965	0.71173	D	.	.	.	.	0.997146	0.54805	D	.	.	.	-0.43	0.71425	T	-1.13	0.33798	N	0.553	0.57860	-0.1046	0.79993	T	0.501	0.81134	D	9	0.03752166	0.02111	T	0.074181	0.71977	D	0.234	0.53644	.	.	0.676492767695	0.67374	0.24167956163382087	0.24081	.	.	0.780992388725	0.79077	T	0.082777	0.53003	T	-0.143071	0.29403	T	-0.00836763	0.69790	D	0.0589111484587193	0.06996	T	0.928807	0.74741	D	0.28034267	0.51082	0.20437068	0.44558	0.28034267	0.51081	0.20437068	0.44557	-9.351	0.72827	D	.	.	0.212	0.46214	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447765	0.47999	22.5	0.99688708648307756	0.79775	0.96524	0.69570	D	AEFGBCI	0.534732	0.55365	D	0.496658169237262	0.66893	5.009675	0.561872396246422	0.72228	5.776739	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.206000	0.42416	0.609000	0.20011	0.599000	0.40250	1.000000	0.71638	0.094000	0.22579	0.997000	0.79791	0.0:1.0:0.0:0.0	20.478	0.99191	560	0.71333	.;.;.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1793.33	178	chr1	39322623	.	C	A	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=798;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.009;SOR=0.611	GT:AD:DP:GQ:PL	0/1:100,78:178:99:1807,0,2368	18	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	C	CGGGACGCCCGCCTACTTCGGCGGCTG	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,2:8:66:.:.:66,0,227:.	17	0	2	0
chr1	41511050	41511050	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6619A:p.G2207R,HIVEP3:NM_024503:exon9:c.G6622A:p.G2208R	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00658565059631	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs371352900	4.516e-05	4.515e-05	5.31e-05	3.714e-05	5.306e-05	3.542e-05	3.322e-05	4.178e-05	3.826e-05	0	0	0	0	9.379e-05	0	5.306e-05	3.312e-05	0	4.595e-05	4.593e-05	6.423e-05	2.685e-05	0.0002	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.006	0.61437	D	0.101	0.38596	T	0.047	0.21998	B	0.027	0.21085	B	0.010187	0.30029	N	0.162693	0.887581	0.35882	D	1.04	0.26193	L	3.37	0.05847	T	-1.16	0.31778	N	0.542	0.56919	-1.0152	0.25272	T	0.013	0.05129	T	10	0.06663537	0.09167	T	0.006586	0.17358	T	0.037	0.09474	0.305	0.27485	0.183819452728	0.17975	0.1731505287264743	0.17235	0.81697506507	0.66986	0.577567338943	0.49743	T	0.131115	0.46042	T	-0.320449	0.06860	T	-0.461411	0.26446	T	0.164107241703033	0.18170	T	0.808919	0.45897	T	0.140944	0.32497	0.09719083	0.23124	0.140944	0.32497	0.09719083	0.23123	-4.522	0.31447	T	.	.	0.212	0.44095	B	.;.;.	.;.;.	4.387655	0.67691	25.1	0.9989856012551066	0.97124	0.22220	0.21673	N	AEFBI	0.121434	0.23609	N	-0.323774973855493	0.28247	1.556472	-0.203484225698302	0.31409	1.777385	0.999778869558975	0.42865	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.79	3.8	0.42887	2.025000	0.40679	5.685000	0.49312	0.599000	0.40250	0.795000	0.29657	1.000000	0.68203	0.995000	0.73285	0.0:0.7679:0.0:0.2321	7.219	0.25153	455	0.79073	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1093.33	79	chr1	41511050	.	C	T	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.477;DP=781;ExcessHet=0;FS=4.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.271;SOR=0.352	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1107,0,999	18	0	1	0
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.02632	1591.33	109	chr1	42735803	.	G	C	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=747;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.689;SOR=0.561	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1605,0,1374	18	0	1	0
chr1	43977343	43977343	C	T	exonic	ATP6V0B	.	nonsynonymous SNV	ATP6V0B:NM_001294333:exon7:c.C718T:p.P240S	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00179712	0.0019	0	0.0014	0	0	0.0003	0.0140	0.0053	0.0005498	85	154602	rs144973199	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0043	0.0041	6.222e-05	0.0003	0.0001	0	0	0.0016	0.0003	0.0008	0.0047	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0016	0	0	0	0	0.0002	0.0009	0.0035	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.35	0.12847	N	0.126	0.11912	-1.0155	0.25175	T	0.044	0.19029	T	6	0.0036219954	0.00066	T	.	.	.	0.007	0.00512	.	.	0.043077524339	0.03247	0.4359435098946122	0.43511	.	.	.	.	.	0.008229	0.07566	T	-0.545466	0.00310	T	-0.55576	0.16777	T	0.00511638632547428	0.00055	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	-0.016545	0.04170	1.005	0.85239337389978642	0.15770	0.07734	0.13735	N	AEFBCI	0.071916	0.14335	N	-1.10842491069673	0.06492	0.2990216	-1.18576299632909	0.06147	0.294978	0.999379009753806	0.39355	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.322989	0.05693	1	.	.	3.4	0.383	0.15462	-1.321000	0.02805	-0.865000	0.07126	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.0:0.5161:0.235:0.2489	3.731	0.08019	308	0.87611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1594.33	121	chr1	43977343	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=813;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.16;SOR=0.919	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1608,0,1381	18	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q,CCDC24:NM_001349128:exon8:c.G743A:p.R248Q,CCDC24:NM_001349127:exon9:c.G703A:p.G235S,CCDC24:NM_152499:exon9:c.G707A:p.R236Q	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.000000	0.010870	0.029240	0.050000	0.000000	0.009146	0.015152	0.05263	4793.83	190	chr1	43995943	.	G	A	4793.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.29;DP=930;ExcessHet=0.119;FS=14.815;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.2;SOR=1.302	GT:AD:DP:GQ:PL	0/1:105,85:190:99:2413,0,2609	17	0	2	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:13:99:1|0:50419101_CCGGCGG_C:550,246,276:50419101	11	0	8	0
chr1	53327836	53327836	-	GCC	exonic	LRP8	.	nonframeshift insertion	LRP8:NM_001018054:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_004631:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_017522:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_033300:exon1:c.76_77insGGC:p.Q25_L26insR	.	424	1093	5	0	0	5	0.00228206	.	.	.	3199412	LRP8-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0116	0	0	0	0.0011	0	0.0018	0.0003074	8	26028	rs759395062	0.0010	0.0012	0.0010	0.0010	0.0024	0.0010	0.0009	0.0019	0.0017	0.0024	0.0009	0.0006	0.0020	0.0014	0.0008	0.0009	0.0011	0.0013	0.0017	0.0018	0.0018	0.0017	0.0035	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0017	0.0009	0.0035	0.0016	0	0.0009	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	650.3	41	chr1	53327836	.	A	AGCC	650.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=638;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.93;SOR=0.423	GT:AD:DP:GQ:PL	0/1:20,21:41:99:664,0,620	18	0	1	0
chr1	53327839	53327839	T	A	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_001018054:exon1:c.A74T:p.Q25L,LRP8:NM_004631:exon1:c.A74T:p.Q25L,LRP8:NM_017522:exon1:c.A74T:p.Q25L,LRP8:NM_033300:exon1:c.A74T:p.Q25L	.	444	355	487	198	38	921	0.5543	.	.	.	3203048	LRP8-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.309	0.0750676627521	.	.	0.0017	0.0099	0	0	0	0.0011	0	0.0018	0.0002587	40	154602	rs4926972	0.0011	0.0012	0.0011	0.0011	0.0025	0.0011	0.0010	0.0020	0.0019	0.0025	0.0009	0.0006	0.0021	0.0015	0.0008	0.0010	0.0012	0.0013	0.0017	0.0018	0.0017	0.0017	0.0036	0.0016	0.0015	0.0025	0.0024	0.0029	0	0.0017	0.0009	0.0036	0.0017	0	0.0010	0.0014	0.0010	0.771	0.42783	T	0.652	0.06925	T	0.011	0.17989	B	0.005	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.67	0.90509	D	0.22	0.04694	N	0.217	0.32259	-0.7373	0.58591	T	0.409	0.75831	T	9	0.008163989	0.00185	T	0.075068	0.72198	D	0.309	0.63055	.	.	0.855947372543	0.85455	0.5067040976236344	0.50592	0.984122700799	0.73843	0.909727752209	0.97445	D	0.048704	0.28093	T	0.0952545	0.63776	D	-0.10095	0.63326	T	0.0155180842792677	0.00352	T	0.285671	0.05095	T	0.062303048	0.12998	0.11127649	0.26842	0.062303048	0.12997	0.11127649	0.26841	-0.71	0.00900	T	.	.	0.141	0.31074	B	.;.;.;.	.;.;.;.	0.979366	0.13568	10.09	0.63802622401549014	0.07321	0.18117	0.20126	N	AEFDGBCIJ	0.044139	0.07064	N	-2.00019441490205	0.00212	0.009062425	-1.98746701003199	0.00325	0.01437196	0.99999999248939	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.47	-3.85	0.03964	-1.770000	0.01889	-0.908000	0.06966	-1.337000	0.01208	0.745000	0.29079	0.961000	0.29326	0.656000	0.32857	0.0:0.3284:0.0:0.6716	11.9	0.51959	405	0.82444	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	6309.5	29	chr1	53327839	.	T	A	6309.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=668;ExcessHet=4.2649;FS=1.196;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.075;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,21:29:99:.:.:670,0,537:.	18	0	1	0
chr1	56945959	56945959	G	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon7:c.C967T:p.R323W,C8B:NM_001278543:exon8:c.C811T:p.R271W,C8B:NM_001278544:exon8:c.C781T:p.R261W	C8 deficiency, type II, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	816303	Type_II_complement_component_8_deficiency|not_provided	MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0900553585665	0.0006	0.000399361	0.0006	0	0.0004	0	0	0.0007	0.0022	0.0008	0.000608	94	154602	rs141295453	0.0006	0.0006	0.0007	0.0006	0.0010	0.0006	0.0006	0.0007	0.0006	0.0002	0.0008	0	0	3.744e-05	0.0010	0.0007	0.0006	0.0008	0.0004	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0006	7.218e-05	0	0.0012	0.0003	0	0	0	0.0006	0.0024	0.0002	0.007	0.63226	D	0.014	0.64786	D	0.85	0.46913	P	0.409	0.44752	B	0.785882	0.06682	N	1.095330	1	0.08975	N	.	.	.	-1.86	0.84341	D	-3.11	0.63669	D	0.341	0.39962	-0.3271	0.74218	T	0.554	0.83705	D	10	0.13814276	0.26274	T	0.090055	0.75446	D	0.247	0.55478	.	.	0.913127884105	0.91225	0.49851256302554914	0.49772	0.0387780054484	0.04121	0.211338624358	0.00869	T	0.119696	0.44141	T	-0.338613	0.05485	T	-0.340954	0.40237	T	0.088678033533374	0.11060	T	0.916808	0.75457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.20972	B	.;.;.	.;.;.	2.541321	0.32871	19.17	0.99857654720937583	0.93639	0.08719	0.14607	N	AEFBI	0.621618	0.60624	D	-0.136933999698584	0.35793	2.060433	-0.192327678853732	0.31818	1.804218	0.0051039184148305	0.10829	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	2.59	0.30091	0.602000	0.23833	2.094000	0.30565	0.676000	0.76740	0.001000	0.13787	0.990000	0.31317	0.843000	0.39806	0.0:0.0:0.7098:0.2902	14.215	0.65332	871	0.31377	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) 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	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1790.33	127	chr1	56945959	.	G	A	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.091;DP=773;ExcessHet=0;FS=5.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-1.832;SOR=0.56	GT:AD:DP:GQ:PL	0/1:53,74:127:99:1804,0,1300	18	0	1	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	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,21:79:99:.:.:234,0,473:.	4	0	11	4
chr1	85707951	85707951	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G334A:p.A112T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00573583454862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.395	0.15255	T	0.024	0.19075	B	0.002	0.06944	B	0.733295	0.09837	N	0.837603	1	0.08975	N	0.35	0.11930	N	0.92	0.44461	T	-0.42	0.14193	N	0.023	0.00407	-0.9848	0.33879	T	0.014	0.05753	T	10	0.03003785	0.01130	T	0.005736	0.14862	T	0.075	0.21907	0.137	0.04097	0.176091768786	0.17195	0.013701614678578685	0.01328	0.159469905242	0.17994	0.230211660266	0.01984	T	0.012627	0.11064	T	-0.351445	0.04637	T	-0.742603	0.03782	T	0.0883192062500711	0.11016	T	0.594241	0.21993	T	0.030879507	0.02829	0.034323238	0.02478	0.030879507	0.02829	0.034323238	0.02478	-3.928	0.22723	T	.	.	0.068	0.02733	B	.	.	1.512734	0.19433	14.26	0.96451198206309108	0.29865	0.03353	0.08440	N	AEFDGBCI	0.045321	0.07398	N	-1.00024958380464	0.08598	0.4037839	-0.97419444515341	0.10367	0.5216809	0.99998628763225	0.51787	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.08	-0.188	0.12612	0.348000	0.19784	-0.242000	0.10582	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.2773:0.2667:0.222:0.2339	0.200	0.00134	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	405.83	252	chr1	85707951	.	C	T	405.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.609;DP=2253;ExcessHet=0.119;FS=121.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.24;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,30:252:78:.:.:78,0,5153:.	17	0	2	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,20:110:16:.:.:16,0,2133:.	7	0	10	2
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,18:101:32:.:.:32,0,1453:.	5	0	14	0
chr1	113590585	113590585	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865C:p.D289H,MAGI3:NM_152900:exon5:c.G865C:p.D289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0204542414694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	2.554e-05	1.873e-05	0.0002	0.0003	0.0002	9.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.72154	D	0.016	0.64786	D	0.682	0.73220	P	0.771	0.64423	P	0.000000	0.84330	D	0.090924	0.999997	0.58761	D	2.25	0.63811	M	2.45	0.16640	T	-2.31	0.51319	N	0.323	0.38746	-1.1300	0.01782	T	0.055	0.23110	T	10	0.28733623	0.46316	T	0.020454	0.43047	T	0.206	0.49396	0.246	0.18139	0.110392049598	0.10638	0.5781545728661651	0.57744	0.684559319626	0.60227	0.599302053452	0.52805	T	0.432916	0.78052	T	-0.107333	0.35209	T	-0.391953	0.34322	T	0.965076804161072	0.67154	D	0.90371	0.66210	D	0.4653931	0.65007	0.40592608	0.64980	0.4653931	0.65008	0.40592608	0.64980	-10.751	0.83431	D	.	.	0.556	0.67064	A	.;.;.;.	.;.;.;.	4.085831	0.60819	24.3	0.99181362579056509	0.54701	0.99025	0.90130	D	AEFDI	0.863854	0.78249	D	0.432571078238433	0.63221	4.551813	0.37549369735247	0.60058	4.189281	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	549.71	122	chr1	113590585	.	G	C	549.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.568;DP=1025;ExcessHet=0;FS=139.127;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=1.79;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,31:122:99:0|1:113590585_G_C:563,0,3383:113590585	17	0	1	1
chr1	113590588	113590588	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868C:p.E290Q,MAGI3:NM_152900:exon5:c.G868C:p.E290Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00616133793637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.078	0.58089	T	0.997	0.70673	D	0.962	0.70672	D	0.000007	0.62929	D	0.142947	0.999986	0.54805	D	2.51	0.73131	M	2.49	0.16640	T	-1.92	0.44657	N	0.253	0.28616	-1.0929	0.05066	T	0.066	0.27156	T	10	0.19556746	0.35413	T	0.006161	0.16141	T	0.332	0.65424	0.304	0.27325	0.374301178862	0.37045	0.4197019931616899	0.41886	0.614899939154	0.55992	0.549924015999	0.45846	T	0.107787	0.42028	T	-0.0706025	0.41229	T	-0.339192	0.40435	T	0.910349726676941	0.56555	D	0.935006	0.75597	D	0.26657125	0.49727	0.15598898	0.36540	0.26657125	0.49727	0.15598898	0.36539	-8.698	0.72310	D	.	.	0.286	0.53072	B	.;.;.;.	.;.;.;.	4.387163	0.67679	25.1	0.9664328710280794	0.30560	0.99365	0.95074	D	AEFDI	0.890581	0.82574	D	0.412724917961006	0.62121	4.422935	0.378898146091507	0.60264	4.212223	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	866.45	122	chr1	113590588	.	G	C	866.45	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.148;DP=1366;ExcessHet=0.119;FS=251.524;InbreedingCoeff=-0.0872;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,31:122:99:0|1:113590585_G_C:562,0,3438:113590585	16	0	1	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2186.94	114	chr1	113590590	.	G	C	2186.94	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.133;DP=1393;ExcessHet=0.7564;FS=347.698;InbreedingCoeff=-0.3104;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.845;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,43:114:99:0|1:113590585_G_C:990,0,1211:113590585	5	0	4	10
chr1	113642285	113642285	A	G	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon10:c.A1735G:p.I579V,MAGI3:NM_152900:exon10:c.A1735G:p.I579V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00360965283915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	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	1.0	0.01946	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.06944	B	0.000059	0.53742	N	0.200579	0.999959	0.52396	D	-0.5	0.02616	N	1.18	0.37746	T	0.13	0.05810	N	0.065	0.07262	-0.9382	0.42900	T	0.011	0.04181	T	10	0.024552286	0.00679	T	0.00361	0.08278	T	0.048	0.13305	0.308	0.27967	0.0675242888579	0.06100	0.12778043727055563	0.12704	0.134233228258	0.15122	0.401320397854	0.25252	T	.	.	.	-0.254844	0.13510	T	-0.603842	0.12490	T	0.0690410882234573	0.08516	T	0.79822	0.44280	T	0.06885557	0.15037	0.044933017	0.05932	0.06885557	0.15036	0.044933017	0.05931	-2.768	0.18495	T	.	.	0.079	0.08705	B	.;.;.;.	.;.;.;.	1.321230	0.17251	13.05	0.43053235181017752	0.03215	0.71018	0.34834	D	AEFBI	0.154868	0.27996	N	-0.664855293412205	0.17028	0.8728138	-0.440602208151044	0.23816	1.300793	0.0690157571599832	0.15477	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	2.271000	0.43023	-0.029000	0.12820	0.754000	0.88378	1.000000	0.71638	0.001000	0.17328	0.999000	0.91618	0.7988:0.0:0.2012:0.0	9.601	0.38772	454	0.79125	.;PDZ domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2820.33	200	chr1	113642285	.	A	G	2820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.448;DP=831;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.764;SOR=0.82	GT:AD:DP:GQ:PL	0/1:93,107:200:99:2834,0,2427	18	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	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:105,72:189:99:370,0,1089	3	0	16	0
chr1	116544574	116544574	T	C	exonic	CD58	.	nonsynonymous SNV	CD58:NM_001144822:exon2:c.A101G:p.Y34C,CD58:NM_001779:exon2:c.A101G:p.Y34C	.	428	1086	7	1	0	9	0.00412655	.	.	.	2273437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00510294243832	.	.	0.0002	0	8.867e-05	0	0.0002	7.73e-05	0.0011	0.0006	0.0001294	20	154602	rs762708999	8.896e-05	8.961e-05	8.27e-05	9.533e-05	0.0007	7.607e-05	7.148e-05	0.0003	0.0003	0	0	0	2.539e-05	0.0001	0.0007	6.992e-05	8.409e-05	0.0004	5.262e-05	5.255e-05	7.714e-05	2.693e-05	0.0002	2.559e-05	1.832e-05	3.762e-05	2.575e-05	2.417e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.955	0.73362	D	0.565058	0.05446	N	1.254140	1	0.08975	N	2.395	0.69210	M	1.94	0.22678	T	-4.52	0.89029	D	0.359	0.40465	-1.0331	0.19459	T	0.047	0.20195	T	10	0.09783882	0.17648	T	0.005103	0.12939	T	0.086	0.25016	.	.	0.27132560031	0.26736	0.4387497299844418	0.43791	0.937311298851	0.72079	0.337418198586	0.16051	T	0.448413	0.79031	T	-0.384082	0.02936	T	-0.437765	0.29060	T	0.271806414332503	0.23825	T	0.524548	0.17205	T	0.56707966	0.70900	0.36789575	0.62090	0.56707966	0.70901	0.36789575	0.62090	-8.664	0.65883	D	.	.	0.341	0.56507	A	.;.;.;.	.;.;.;.	0.793566	0.11639	8.226	0.98142997935176568	0.38622	0.06341	0.12339	N	AEDBHCI	0.054809	0.09996	N	-0.511143863447338	0.21719	1.154695	-0.775537562561136	0.15095	0.7922282	0.999941617580614	0.47345	0.75658	0.98901	0	0.858454	0.99946	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.86	-0.369	0.11910	-3.643000	0.00454	-1.806000	0.04692	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3263:0.0:0.0:0.6737	8.201	0.30584	685	0.59416	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1585.33	140	chr1	116544574	.	T	C	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=771;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.22;SOR=0.551	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1599,0,1845	18	0	1	0
chr1	119140608	119140608	A	C	exonic	WARS2	.	nonsynonymous SNV	WARS2:NM_001378228:exon1:c.T37G:p.W13G,WARS2:NM_001378229:exon1:c.T37G:p.W13G,WARS2:NM_001378231:exon1:c.T37G:p.W13G,WARS2:NM_015836:exon1:c.T37G:p.W13G,WARS2:NM_201263:exon1:c.T37G:p.W13G	.	423	1084	15	0	0	15	0.00687128	.	.	YES	434543	not_provided|Parkinsonism-dystonia_3,_childhood-onset|Inborn_genetic_diseases|WARS2-related_disorder|Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.00555365232878	0.0027	0.00199681	0.0034	0.0006	0.0044	0	0.0006	0.0044	0.0011	0.0034	0.0033441	517	154602	rs139548132	0.0036	0.0036	0.0036	0.0037	0.0078	0.0036	0.0035	0.0060	0.0054	0.0005	0.0042	0.0012	0	0.0009	0.0078	0.0040	0.0040	0.0037	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0044	0.0042	0.0023	0	0.0005	0.0068	0.0049	0.0047	0.0039	0.081	0.36113	T	0.016	0.60972	D	0.001	0.07471	B	0.001	0.04355	B	0.097744	0.20013	N	0.534882	0.96309	0.26039	N	2.14	0.59869	M	0.99	0.41750	T	-0.74	0.21860	N	0.427	0.46649	-1.0499	0.14425	T	0.028	0.12190	T	10	0.0043417513	0.00088	T	0.005554	0.14319	T	0.121	0.33580	.	.	0.251679625132	0.24793	0.6198794439575772	0.61920	0.740897167152	0.63259	0.338066577911	0.16147	T	0.114069	0.43160	T	-0.450553	0.01121	T	-0.417353	0.31380	T	0.0366873790085819	0.03100	T	0.632737	0.24712	T	0.1685499	0.37319	0.098846555	0.23579	0.07218971	0.16040	0.108971946	0.26256	-4.802	0.34615	T	.	.	0.109	0.21541	B	.;.	.;.	1.890003	0.24007	16.23	0.89472259208166782	0.18826	0.11826	0.16886	N	ALL	0.118447	0.23160	N	-0.553494044451047	0.20375	1.073573	-0.457345149565875	0.23340	1.272343	0.999999999999984	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	6.04	0.718	0.17356	-0.145000	0.10248	2.378000	0.32469	0.756000	0.94297	0.473000	0.26745	1.000000	0.68203	0.865000	0.41091	0.3592:0.1819:0.1071:0.3518	0.681	0.00819	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	0.007049	0.000000	0.006793	0.002924	0.000000	0.000000	0.024390	0.003788	0.07895	3681.77	99	chr1	119140608	.	A	C	3681.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.973;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=-1.525;SOR=0.708	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2764,297,0	17	1	1	0
chr1	120816630	120816630	A	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1388C:p.Q463P	.	523	990	9	0	0	9	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00103900310276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782021014	0.0005	0.0050	0.0004	0.0006	0.0023	0.0004	0.0004	0.0020	0.0018	0.0022	0.0015	0.0001	0.0003	0.0006	0	0.0003	0.0004	0.0023	0.0012	0.0087	0.0010	0.0015	0.0019	0.0010	0.0010	0.0010	0.0009	0.0014	0	0.0009	0.0008	0.0019	0.0013	0	0.0013	0.0026	0	.	.	.	0.204	0.62352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.359	0.40063	-1.0422	0.16651	T	0.021	0.08778	T	9	0.09983155	0.18143	T	3.87E-4	0.00065	T	.	.	.	.	0.0297737177859	0.01360	0.22769245963978335	0.22684	.	.	.	.	.	.	.	.	-0.0299573	0.47423	T	-0.280808	0.46722	T	0.0504873322125521	0.05584	T	0.615438	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.23255	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.863480	0.12360	8.898	0.91136521014520167	0.20390	0.00796	0.03248	N	AEFBI	0.135307	0.25560	N	-0.744164548179835	0.14792	0.7398978	-0.942789091635799	0.11091	0.5629054	0.0177842938130526	0.12989	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.811	0.811	0.17881	0.559000	0.23190	-4.145000	0.02317	0.101000	0.17621	0.150000	0.23655	0.000000	0.08366	0.433000	0.27516	1.0:0.0:0.0:0.0	3.935	0.08801	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	92.54	34	chr1	120816630	.	A	C	92.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.419;DP=507;ExcessHet=0.3892;FS=64.783;InbreedingCoeff=-0.1259;MLEAC=3;MLEAF=0.088;MQ=33.23;MQRankSum=-2.237;QD=1.71;ReadPosRankSum=1.75;SOR=4.97	GT:AD:DP:GQ:PL	0/1:29,5:34:25:25,0,1033	14	0	3	2
chr1	146985717	146985717	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon26:c.A2852G:p.Y951C	.	471	1032	19	0	0	19	0.00912146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000163214244258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431147745	0.0012	0.0035	0.0010	0.0014	0.0029	0.0011	0.0011	0.0023	0.0020	0.0029	0.0011	0.0033	0	0.0011	0.0020	0.0010	0.0010	0.0021	0.0002	0.0015	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0.0002	0	0.0001	0	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.169	0.18649	-0.9519	0.40643	T	0.009	0.03183	T	4	0.08142331	0.13327	T	5.1E-4	0.00163	T	.	.	.	.	0.0716867268079	0.06686	0.00371447489682259	0.00347	.	.	.	.	.	.	.	.	-0.200108	0.20788	T	-0.525218	0.19768	T	0.0803811617759508	0.10036	T	0.957404	0.85901	D	0.08617099	0.20018	0.18917689	0.42250	0.08617099	0.20017	0.18917689	0.42249	-7.722	0.59161	D	.	.	0.376	0.60603	A	.;.;.;.;.	.;.;.;.;.	0.435955	0.08064	4.786	0.32174284863828506	0.01851	0.00255	0.01401	N	AEFI	0.031340	0.03327	N	-0.936343263324024	0.10001	0.4759034	-1.1901068516727	0.06074	0.2912888	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.562000	0.02260	-3.618000	0.02653	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	759	0.50631	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	.	.	.	.	.	.	.	.	0.02632	45.33	53	chr1	146985717	.	A	G	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1208;ExcessHet=0;FS=17.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.69;MQRankSum=-1.785;QD=0.86;ReadPosRankSum=0.509;SOR=4.155	GT:AD:DP:GQ:PL	0/1:45,8:53:59:59,0,1230	18	0	1	0
chr1	148586447	148586447	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon8:c.G1114A:p.A372T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296778701	0.0002	0.0005	0.0002	0.0002	0.0022	0.0002	0.0001	0.0018	0.0016	0	6.92e-05	0	0.0022	0.0001	0	7.736e-05	0.0001	0.0003	0.0003	0.0012	0.0002	0.0004	0.0010	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0002	0	0.0010	0.0003	0	0.0003	0	0.0002	.	.	.	0.042	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	3.0	0.09167	T	.	.	.	0.192	0.23884	-0.8850	0.49357	T	0.004	0.01159	T	7	0.006296009	0.00142	T	0.004016	0.09525	T	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.204111	0.20214	T	-0.530968	0.19191	T	0.00704590148008096	0.00080	T	0.488951	0.29211	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40586	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.389825	0.02250	0.231	0.82993575658718322	0.14485	0.00782	0.03209	N	AEFI	.	.	.	-1.82189801946301	0.00494	0.02125184	-1.92386896093946	0.00439	0.01941888	1.52018773964216E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	.	.	.	-0.857000	0.04394	-12.442000	0.00525	-1.609000	0.00882	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3252:0.6748:0.0:0.0	5.322	0.15195	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	92.27	16	chr1	148586447	.	C	T	92.27	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.47;DP=904;ExcessHet=0.119;FS=66.492;InbreedingCoeff=-0.0688;MLEAC=2;MLEAF=0.053;MQ=31.16;MQRankSum=-3.88;QD=1.38;ReadPosRankSum=3.18;SOR=6.357	GT:AD:DP:GQ:PL	0/1:11,5:16:82:82,0,269	17	0	2	0
chr1	152215073	152215073	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6556A:p.G2186S	.	413	1058	51	0	0	51	0.0235348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	.	0.0028	0.0009	0.0004	0.0003	0	0.0013	0.0015	0.0132	0.0017076	264	154602	rs369310118	0.0004	0.0016	0.0003	0.0005	0.0035	0.0004	0.0004	0.0031	0.0030	0.0002	6.77e-05	0.0013	2.521e-05	1.89e-05	0.0032	0.0002	0.0005	0.0035	0.0003	0.0006	0.0003	0.0004	0.0047	0.0003	0.0002	0.0032	0.0027	0.0001	0	6.704e-05	0.0003	0	0	0	0.0003	0.0015	0.0047	0.031	0.45039	D	0.29	0.21011	T	0.89	0.48942	P	0.082	0.29098	B	.	.	.	.	1	0.08975	N	1.955	0.52871	M	4.46	0.02102	T	-0.75	0.21003	N	0.217	0.24260	-0.8940	0.48577	T	0.002	0.00526	T	9	0.006400287	0.00145	T	.	.	.	0.079	0.23065	.	.	0.337868961071	0.33390	0.023821135414630563	0.02333	.	.	0.574209809303	0.49272	T	0.016079	0.13364	T	-0.629641	0.00096	T	-0.674462	0.07325	T	0.00560276802564981	0.00061	T	0.332567	0.07018	T	0.04420956	0.07027	0.047306728	0.06787	0.04420956	0.07027	0.047306728	0.06786	-9.429	0.70417	D	.	.	0.117	0.23848	B	.	.	0.827833	0.11993	8.550	0.82080008091088474	0.14008	0.00254	0.01397	N	AEFBI	0.034004	0.04137	N	-0.901208047052108	0.10814	0.5186456	-1.13080107986528	0.07117	0.3450171	1.00382679385416E-4	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-3.96	0.03833	-1.323000	0.02800	.	.	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3675:0.1449:0.4876	5.364	0.15408	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005870	0.000000	0.001359	0.016667	0.000000	0.008621	0.009259	0.015385	0.05263	4329.83	652	chr1	152215073	.	C	T	4329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.28;DP=5863;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=30.8;MQRankSum=1.88;QD=2.91;ReadPosRankSum=2.43;SOR=0.791	GT:AD:DP:GQ:PL	0/1:487,165:652:99:2952,0,11775	17	0	2	0
chr1	153544677	153544677	G	A	exonic	S100A4	.	nonsynonymous SNV	S100A4:NM_002961:exon2:c.C118T:p.R40W,S100A4:NM_019554:exon3:c.C118T:p.R40W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0375060662816	.	0.000199681	0.0001	0.0002	8.637e-05	0	0	4.496e-05	0	0.0007	0.0001229	19	154602	rs576307674	4.994e-05	4.994e-05	3.675e-05	6.325e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	5.974e-05	2.236e-05	0	2.519e-05	0	0.0010	1.169e-05	0.0002	0.0005	5.91e-05	5.906e-05	5.141e-05	6.714e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.007e-05	7.221e-05	0	0	0	0	0	0	4.411e-05	0	0.0006	0.009	0.57480	D	0.004	0.74150	D	0.996	0.68779	D	0.96	0.70309	D	0.150612	0.17980	N	0.540673	0.651903	0.30526	N	2.24	0.63355	M	2.86	0.10482	T	-4.05	0.74504	D	0.414	0.45426	-1.1132	0.02809	T	0.030	0.12892	T	10	0.23982707	0.41130	T	0.037506	0.57658	D	0.075	0.21907	0.509	0.60540	0.717020191167	0.71453	0.4687445027751802	0.46793	0.548597812381	0.51797	0.432840526104	0.29596	T	0.358109	0.72472	T	-0.394811	0.02503	T	-0.448517	0.27861	T	0.356687754392624	0.27279	T	0.969003	0.88824	D	0.19147393	0.40776	0.18557078	0.41678	0.19147393	0.40776	0.18557078	0.41677	-9.744	0.72365	D	.	.	0.281	0.51592	B	.;.;.;.	.;.;.;.	4.501317	0.70410	25.5	0.99903420431661694	0.97502	0.07059	0.13085	N	AEFDGBCI	0.493427	0.52965	N	0.0932795210384736	0.46149	2.859828	-0.0340708783299594	0.38188	2.246271	0.999989313078375	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.662677	0.59975	0	0.550183	0.17644	0	.	.	4.83	1.55	0.22356	1.015000	0.29565	1.427000	0.26414	0.676000	0.76740	0.001000	0.13787	0.008000	0.19753	0.979000	0.57723	0.0:0.0:0.4397:0.5603	9.942	0.40754	830	0.39242	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006098	0.000000	0.05263	2895.83	143	chr1	153544677	.	G	A	2895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=959;ExcessHet=0.119;FS=4.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=3.45;SOR=0.5	GT:AD:DP:GQ:PL	0/1:88,55:143:99:1324,0,2085	17	0	2	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:117,52:180:99:107,0,1634	7	0	10	2
chr1	159304153	159304153	G	A	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon4:c.G302A:p.S101N	.	431	1070	19	2	0	23	0.0106334	.	.	.	706768	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0008	0.0181709	0.0063	0.0002	0.0003	0.0714	0.0005	0.0010	0.0055	0.0040	0.0059055	913	154602	rs2298805	0.0034	0.0034	0.0034	0.0034	0.0850	0.0033	0.0033	0.0826	0.0816	0.0001	0.0006	0.0024	0.0850	0.0013	0.0040	0.0006	0.0054	0.0046	0.0036	0.0036	0.0032	0.0041	0.0773	0.0034	0.0033	0.0711	0.0686	0.0002	0	0.0006	0.0035	0.0773	0.0022	0.0068	0.0008	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	P	3.995	0.96723	H	2.12	0.19726	T	-2.79	0.59059	D	0.483	0.51761	-0.5511	0.66745	T	0.159	0.49212	T	8	0.0032084882	0.00054	T	.	.	.	0.162	0.41843	.	.	0.557365556891	0.55396	0.6099697937867461	0.60928	0.197323763495	0.22113	0.436360627413	0.30080	T	0.735165	0.92619	D	-0.473276	0.00811	T	-0.365752	0.37384	T	0.148157181154454	0.16956	T	0.449655	0.12671	T	0.5811307	0.71670	0.4919939	0.70614	0.5811307	0.71671	0.4919939	0.70614	-10.147	0.74787	D	.	.	0.694	0.78211	P	.;.	.;.	3.454008	0.48109	22.6	0.98360627124908862	0.40638	0.85134	0.44242	D	AEFI	0.425901	0.49048	N	0.443070018720451	0.63811	4.622162	0.197259700354554	0.49697	3.169788	0.00160229383295625	0.08694	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	3.78	0.42629	2.577000	0.45707	9.805000	0.81716	0.676000	0.76740	0.730000	0.28923	1.000000	0.68203	0.005000	0.06747	0.0:0.1909:0.8091:0.0	10.812	0.45754	785	0.46916	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|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	0.002518	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.02632	1361.33	111	chr1	159304153	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.983;DP=734;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.794;SOR=0.534	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1375,0,1282	18	0	1	0
chr1	159432425	159432425	T	C	exonic	OR10J4	.	unknown	UNKNOWN	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0012	0	0	0	0	0.0004	0	0.0170	0.0002652	41	154602	rs535032676	0.0006	0.0004	0.0006	0.0007	0.0036	0.0006	0.0005	0.0020	0.0016	0	0	0.0038	0	4.468e-05	0.0010	0.0006	0.0007	0.0036	0.0004	0.0004	0.0004	0.0005	0.0044	0.0003	0.0003	0.0029	0.0024	2.406e-05	0	6.542e-05	0.0023	0	9.42e-05	0	0.0005	0.0009	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4443.33	358	chr1	159432425	.	T	C	4443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=1261;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.987;SOR=0.686	GT:AD:DP:GQ:PL	0/1:185,173:358:99:4457,0,4619	18	0	1	0
chr1	160816780	160816780	A	C	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon5:c.A1259C:p.E420A,LY9:NM_002348:exon5:c.A1259C:p.E420A	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0054935806873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.012	0.63918	D	0.998	0.77913	D	0.995	0.86255	D	.	.	.	.	0.987792	0.40651	D	2.025	0.55430	M	4.0	0.03239	T	-1.59	0.38345	N	0.144	0.14480	-1.0534	0.13466	T	0.020	0.08407	T	9	0.22380531	0.39167	T	0.005494	0.14136	T	0.106	0.30130	0.294	0.25720	0.647971874355	0.64505	0.4115045507898198	0.41066	0.272651859333	0.29769	0.273019611835	0.06538	T	0.151035	0.49079	T	-0.226253	0.17148	T	-0.562773	0.16117	T	0.459730863571167	0.31155	T	0.642936	0.25461	T	0.110577494	0.26136	0.09513461	0.22550	0.110577494	0.26135	0.09513461	0.22550	-5.512	0.41980	T	.	.	0.217	0.44630	B	.;.	.;.	2.089809	0.26587	17.17	0.99205080592860095	0.55412	0.06217	0.12204	N	AEFBI	0.045198	0.07365	N	0.0192521954964807	0.42730	2.580	-0.175275204181844	0.32448	1.846182	0.986118735050865	0.31006	0.638212	0.43195	0	0.670034	0.63936	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	1.070000	0.30265	1.189000	0.24752	0.641000	0.52212	0.026000	0.20160	0.010000	0.20010	0.141000	0.19983	1.0:0.0:0.0:0.0	10.832	0.45871	789	0.46346	.;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2488.33	218	chr1	160816780	.	A	C	2488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=852;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.166;SOR=0.81	GT:AD:DP:GQ:PL	0/1:110,108:218:99:2502,0,2570	18	0	1	0
chr1	171024425	171024425	C	T	exonic	MROH9	.	stopgain	MROH9:NM_001163629:exon18:c.C1939T:p.R647X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.056e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs17346397	1.501e-05	1.437e-05	1.269e-05	1.739e-05	0.0002	9.65e-06	8.19e-06	6.234e-05	4.047e-05	0.0002	0	0	2.8e-05	0	0	1.02e-05	3.449e-05	2.524e-05	3.96e-05	3.946e-05	2.576e-05	5.413e-05	0.0001	1.722e-05	1.133e-05	4.759e-05	3.067e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116161	0.65984	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.898751	0.95885	35	0.96186122756362169	0.28975	0.05094	0.10893	N	AEFI	0.026732	0.02059	N	-0.0521195236466084	0.39507	2.330957	-0.432187513002922	0.24059	1.315365	2.62790630844471E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	-2.33	0.06340	-0.177000	0.09789	0.132000	0.15059	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.4808:0.3586:0.0:0.1606	6.082	0.19171	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2956.53	68	chr1	171024425	.	C	T	2956.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=798;ExcessHet=0;FS=0.716;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=-0.362;SOR=0.593	GT:AD:DP:GQ:PL	0/1:0,32:68:99:2030,1021,923	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:175160809_TC_T:3193,226,0:175160809	9	2	8	0
chr1	176594643	176594643	G	A	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon3:c.G1039A:p.V347M,PAPPA2:NM_021936:exon3:c.G1039A:p.V347M	.	430	1082	10	0	0	10	0.00459982	.	.	.	2806187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	.	0.0038	0.00279553	0.0044	0.0003	0.0007	0.0002	0.0009	0.0054	0.0011	0.0090	0.0043272	669	154602	rs138546816	0.0050	0.0050	0.0048	0.0051	0.0081	0.0049	0.0048	0.0076	0.0074	0.0006	0.0014	0.0096	5.038e-05	0.0011	0.0064	0.0053	0.0046	0.0081	0.0036	0.0036	0.0039	0.0033	0.0087	0.0034	0.0033	0.0066	0.0059	0.0011	0.0132	0.0020	0.0118	0.0002	0.0006	0.0034	0.0054	0.0019	0.0087	0.588	0.12187	T	0.178	0.29639	T	0.015	0.17086	B	0.01	0.14941	B	0.012827	0.29040	N	0.371406	1	0.08975	N	0.255	0.09829	N	-0.76	0.73417	T	-0.39	0.13611	N	0.098	0.08925	-1.0075	0.27696	T	0.093	0.35390	T	10	0.006326735	0.00143	T	.	.	.	0.042	0.11227	.	.	0.464098490096	0.46036	0.4806798858865983	0.47987	0.178233127683	0.20055	0.294637143612	0.09605	T	0.131009	0.46025	T	-0.58703	0.00175	T	-0.60303	0.12557	T	4.24058853241149e-05	0.00000	T	0.592541	0.21854	T	0.026752384	0.01773	0.040653277	0.04443	0.026752384	0.01773	0.040653277	0.04442	-4.364	0.29064	T	.	.	0.086	0.10787	B	.;.	.;.	0.028649	0.04484	1.196	0.20407946607438282	0.00732	0.13846	0.18084	N	AEFBI	0.120437	0.23461	N	-1.44991946005142	0.02217	0.09766413	-1.42753145219744	0.02979	0.1381345	1.65766257552573E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-1.81	0.07456	0.271000	0.18390	0.115000	0.14837	-0.560000	0.04857	0.009000	0.18154	0.000000	0.08366	0.053000	0.15439	0.2619:0.0:0.5296:0.2085	7.109	0.24558	669	0.61081	.;LamG-like jellyroll fold	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.015152	0.02632	2624.33	203	chr1	176594643	.	G	A	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=833;ExcessHet=0;FS=1.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.662;SOR=0.617	GT:AD:DP:GQ:PL	0/1:105,98:203:99:2638,0,2465	18	0	1	0
chr1	176882938	176882938	T	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon20:c.A3283C:p.M1095L,ASTN1:NM_001364856:exon20:c.A3307C:p.M1103L,ASTN1:NM_004319:exon20:c.A3283C:p.M1095L,ASTN1:NM_207108:exon20:c.A3283C:p.M1095L	.	433	1079	10	0	0	10	0.00461255	.	.	.	432205	Abnormal_corpus_callosum_morphology|not_provided	Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0219076341437	0.0028	0.00179712	0.0034	0.0002	0.0005	0.0001	0.0008	0.0042	0.0011	0.0074	0.0034152	528	154602	rs151246825	0.0038	0.0038	0.0037	0.0039	0.0073	0.0037	0.0037	0.0065	0.0063	0.0002	0.0013	0.0098	0	0.0009	0.0073	0.0039	0.0036	0.0069	0.0027	0.0027	0.0030	0.0025	0.0075	0.0025	0.0024	0.0056	0.0049	0.0006	0.0154	0.0010	0.0121	0	0.0006	0	0.0040	0.0038	0.0075	0.088	0.32453	T	0.462	0.12920	T	0.257	0.31412	B	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.16	0.38073	T	-0.74	0.21215	N	0.626	0.73105	-0.8932	0.48650	T	0.149	0.47522	T	10	0.007880479	0.00179	T	0.021908	0.44740	T	0.244	0.55061	0.117	0.02508	0.372124015043	0.36827	0.4848574118172497	0.48405	0.549024000067	0.51818	0.6371986866	0.58165	T	0.047437	0.27724	T	-0.266181	0.12185	T	-0.144739	0.59705	T	0.039071109360196	0.03523	T	0.892511	0.62902	D	.	.	.	.	.	.	.	.	0.359	0.00303	T	.	.	0.200	0.47976	B	.;.;.	.;.;.	3.680631	0.52392	23.2	0.98164354846962953	0.38806	0.97791	0.77159	D	AEFBI	0.907875	0.86244	D	0.276562724713296	0.54964	3.660826	0.380292540366266	0.60350	4.221636	0.999999939014487	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.603000	0.82048	7.877000	0.72286	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.563	0.76010	678	0.60190	Fibronectin type III;.;.	.	.	.	.	.	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	0.006042	0.005051	0.005435	0.002924	0.000000	0.000000	0.012195	0.011364	0.02632	1942.33	170	chr1	176882938	.	T	G	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=813;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.039;SOR=1.006	GT:AD:DP:GQ:PL	0/1:91,79:170:99:1956,0,2373	18	0	1	0
chr1	182450175	182450175	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon1:c.G10A:p.A4T,RGSL1:NM_001366934:exon1:c.G10A:p.A4T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147072543627	0.0002	0.000199681	0.0009	0.0003	0.0023	0	0	0	0	0.0024	0.0001423	22	154602	rs368344415	0.0001	0.0001	8.176e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	6.33e-05	0	0	0	0	0.0002	0	0.0002	0.0022	5.908e-05	5.905e-05	2.569e-05	9.398e-05	0.0014	3.075e-05	2.208e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0014	0.243	0.17526	T	0.142	0.33330	T	0.192	0.29441	B	0.048	0.24975	B	.	.	.	.	0.996112	0.23111	N	0.805	0.20218	L	2.25	0.17761	T	-0.23	0.10656	N	0.113	0.10056	.	.	.	.	.	.	.	0.004927665	0.00106	T	0.014707	0.35003	T	.	.	.	.	0.148003135375	0.14442	0.15266643169609598	0.15188	.	.	0.481375157833	0.36246	T	0.002827	0.02217	T	-0.584936	0.00180	T	-0.619163	0.11251	T	.	.	.	0.529847	0.17555	T	0.05234949	0.09752	0.100615256	0.24061	0.05234949	0.09751	0.100615256	0.24060	-3.81	0.20954	T	.	.	0.109	0.20857	B	.	.	2.182110	0.27816	17.59	0.97854614614290636	0.36418	0.29481	0.23833	N	AEFDBHCIJ	0.045130	0.07346	N	.	.	.	.	.	.	0.606135800991604	0.21766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	4.33	3.41	0.38145	1.015000	0.29565	5.313000	0.48269	0.676000	0.76740	0.439000	0.26479	0.976000	0.30059	0.923000	0.45890	0.1064:0.0:0.8936:0.0	9.092	0.35780	798	0.45050	.	.	.	.	.	.	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	0.001220	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	1414.33	130	chr1	182450175	.	G	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.053;DP=766;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-2.234;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1428,0,1522	18	0	1	0
chr1	183563229	183563229	T	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon11:c.A1013T:p.N338I,NCF2:NM_001190794:exon12:c.A1121T:p.N374I,NCF2:NM_000433:exon13:c.A1256T:p.N419I,NCF2:NM_001127651:exon14:c.A1256T:p.N419I	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	265448	Developmental_and_epileptic_encephalopathy,_28|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_specified|not_provided	MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.280	.	0.0065	0.00419329	0.0054	0.0012	0.0041	0.0001	0.0015	0.0059	0.0055	0.0110	0.0055562	859	154602	rs35012521	0.0082	0.0082	0.0082	0.0082	0.0106	0.0081	0.0080	0.0101	0.0098	0.0010	0.0045	0.0057	2.519e-05	0.0016	0.0094	0.0090	0.0095	0.0106	0.0054	0.0054	0.0057	0.0050	0.0097	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0045	0.0061	0	0.0010	0.0136	0.0085	0.0076	0.0097	0.003	0.68238	D	0.003	0.76473	D	0.987	0.61912	D	0.942	0.67772	D	0.000092	0.51296	D	0.203036	0.521606	0.31901	D	2.725	0.79712	M	0.78	0.49358	T	-4.32	0.78636	D	0.463	0.50418	-0.7436	0.58267	T	0.198	0.55329	T	10	0.0100801885	0.00226	T	.	.	.	0.280	0.59740	.	.	0.696356426285	0.69374	0.4952431128784428	0.49445	0.798378576579	0.66127	0.477975904942	0.35778	T	0.244942	0.61416	T	-0.410573	0.01970	T	-0.351505	0.39032	T	0.0335921999053578	0.02569	T	0.89911	0.65732	D	0.8869816	0.90250	0.73654705	0.84429	0.92818314	0.94056	0.76936954	0.86382	-8.453	0.69701	D	0.5583680511695567	0.62632	0.516	0.65319	A	.;.;.;.	.;.;.;.	4.079810	0.60676	24.2	0.99299000505735635	0.58541	0.86709	0.46048	D	AEFDBCI	0.325078	0.42677	N	0.489766814090699	0.66488	4.956959	0.450411146364601	0.64743	4.736657	0.999910455796851	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	5.58	4.46	0.53567	2.628000	0.46143	3.388000	0.38048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0765:0.0:0.9235	9.980	0.40982	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain	NCF2	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	16467.8	733	chr1	183563229	.	T	A	16467.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.574;DP=1903;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.951;SOR=0.641	GT:AD:DP:GQ:PL	0/1:362,371:733:99:9518,0,9181	17	0	2	0
chr1	186308093	186308093	A	C	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.A1972C:p.T658P,PRG4:NM_001127709:exon5:c.A2095C:p.T699P,PRG4:NM_001127708:exon6:c.A2251C:p.T751P,PRG4:NM_001303232:exon6:c.A2245C:p.T749P,PRG4:NM_005807:exon7:c.A2374C:p.T792P	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00207610588676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.849e-07	1.363e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.39575	T	0.059	0.45961	T	0.0	0.02946	B	0.0	0.04355	B	0.001807	0.37945	U	0.000000	1	0.18198	N	1.955	0.52871	M	3.52	0.05918	T	-2.23	0.50012	N	0.125	0.13198	-0.9796	0.35094	T	0.011	0.03996	T	9	0.088932365	0.15359	T	0.002076	0.03801	T	0.045	0.12272	0.186	0.09517	0.0138822411134	0.00435	0.10153448433659129	0.10084	0.0417599368484	0.04490	0.212587073445	0.00926	T	0.022793	0.24578	T	-0.213879	0.18835	T	-0.544999	0.17808	T	0.144416144420592	0.16649	T	0.609039	0.48908	T	0.15652183	0.35318	0.13733962	0.32831	0.15652183	0.35318	0.13733962	0.32830	-8.603	0.66700	D	.	.	0.172	0.46927	B	.;.;.;.;.	.;.;.;.;.	1.120166	0.15057	11.55	0.52671622940748974	0.04792	0.01246	0.04390	N	AEFDI	0.239962	0.36183	N	-1.27664825377206	0.03958	0.1777875	-1.43254736994857	0.02932	0.1358148	0.0532229768401132	0.14931	0.428477	0.06694	0	0.514364	0.08380	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.72	-5.44	0.02419	-0.073000	0.11428	-0.173000	0.11207	0.405000	0.20585	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1965:0.462:0.1882:0.1533	2.232	0.03755	259	0.89842	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3629.33	413	chr1	186308093	.	A	C	3629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.122;DP=1338;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=0.464;QD=8.79;ReadPosRankSum=-0.57;SOR=0.605	GT:AD:DP:GQ:PL	0/1:240,173:413:99:3643,0,5592	18	0	1	0
chr1	201383099	201383099	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon7:c.G1361A:p.R454Q	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0115056266267	.	.	3.323e-05	0	0	0.0001	0	0	0.0011	0.0001	2.59e-05	4	154602	rs760393592	1.916e-05	1.984e-05	1.362e-05	2.476e-05	0.0007	1.329e-05	1.144e-05	0.0002	0.0001	2.987e-05	0	0	0	3.75e-05	0.0007	4.497e-06	8.28e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.13	0.29158	T	0.219	0.25987	T	0.196	0.29532	B	0.07	0.27859	B	0.441414	0.12622	N	0.676026	1	0.08975	N	1.295	0.32453	L	0.83	0.47815	T	-2.17	0.49018	N	0.116	0.13484	-1.0353	0.18762	T	0.079	0.31375	T	10	0.047366202	0.04044	T	0.011506	0.29207	T	0.014	0.01968	0.149	0.05238	0.0551355673512	0.04727	0.03879378903210367	0.03825	0.223941503005	0.24908	0.247812867165	0.03540	T	0.124201	0.44908	T	-0.456875	0.01028	T	-0.657377	0.08444	T	0.0247021019307187	0.01234	T	0.724428	0.33821	T	0.044118613	0.06997	0.037631836	0.03456	0.044118613	0.06997	0.037631836	0.03456	-2.46	0.05514	T	.	.	0.081	0.11845	B	.;.;.	.;.;.	1.050696	0.14316	10.90	0.87780336490808142	0.17477	0.01336	0.04600	N	AEFGBI	0.075064	0.15063	N	-1.05457363175443	0.07498	0.348513	-1.09964927023421	0.07708	0.3759877	0.999901157940544	0.45458	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.1	0.00926	0.13400	-0.218000	0.09246	-0.582000	0.08371	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.5463:0.0:0.4537	7.585	0.27156	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2117.33	157	chr1	201383099	.	C	T	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=798;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.2;SOR=0.841	GT:AD:DP:GQ:PL	0/1:79,78:157:99:2131,0,1949	18	0	1	0
chr1	204411104	204411104	T	C	exonic	PPP1R15B	.	nonsynonymous SNV	PPP1R15B:NM_032833:exon1:c.A308G:p.Y103C	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive	433	1079	10	0	0	10	0.00461255	.	.	.	794546	not_provided|PPP1R15B-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0331980629777	7.7e-05	.	0.0003	9.623e-05	0.0005	0	0.0002	0.0004	0	0.0002	0.0002911	45	154602	rs137955986	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	5.974e-05	0.0007	0.0024	2.519e-05	1.872e-05	0.0016	0.0002	0.0006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	2.412e-05	0	0.0009	0.0029	0	0	0	0.0002	0	0.0008	0.016	0.51853	D	0.009	0.66756	D	.	.	.	.	.	.	0.500819	0.05091	N	1.355950	1	0.08975	N	.	.	.	1.67	0.27331	T	-1.66	0.39692	N	0.248	0.28028	-1.0161	0.24980	T	0.086	0.33550	T	10	0.020056814	0.00456	T	0.033198	0.54812	D	0.121	0.33580	.	.	0.349647731962	0.34572	0.1330163085128156	0.13225	0.125560609771	0.14154	0.466323971748	0.34177	T	.	.	.	-0.387845	0.02777	T	-0.460739	0.26518	T	0.0161851847571509	0.00393	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10111	B	.	.	1.013240	0.13924	10.48	0.98216214413674363	0.39254	0.01608	0.05209	N	ALL	0.063313	0.12228	N	-0.562178692659855	0.20103	1.057337	-0.732287227893112	0.16158	0.8534703	0.999999972046289	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	5.12	1.04	0.19220	-0.171000	0.09872	-0.263000	0.10410	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3286:0.0:0.1703:0.501	4.906	0.13151	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1923.33	152	chr1	204411104	.	T	C	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=798;ExcessHet=0;FS=5.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.01;SOR=0.97	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1937,0,1923	18	0	1	0
chr1	205847907	205847907	C	G	exonic	PM20D1	.	nonsynonymous SNV	PM20D1:NM_152491:exon2:c.G234C:p.E78D	.	444	1074	3	1	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0111173038188	0.0008	0.000399361	0.0012	0.0001	8.754e-05	0	0.0006	0.0020	0.0011	0	6.47e-05	10	154602	rs148054590	0.0008	0.0008	0.0008	0.0007	0.0025	0.0007	0.0007	0.0015	0.0012	0.0001	0.0002	0.0008	2.522e-05	0.0009	0.0025	0.0009	0.0007	0.0001	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0007	0.0006	4.813e-05	0	6.539e-05	0.0020	0	0.0006	0.0068	0.0008	0.0014	0.0004	0.161	0.23631	T	0.054	0.47097	T	0.007	0.14184	B	0.016	0.17743	B	0.000015	0.62929	D	0.149321	0.986044	0.40372	D	1.89	0.50145	L	3.08	0.08460	T	-2.09	0.47683	N	0.504	0.53620	-1.0488	0.14733	T	0.022	0.09147	T	10	0.019073784	0.00422	T	0.011117	0.28415	T	0.123	0.34020	0.277	0.23004	0.0297737177859	0.01360	0.5362988907183861	0.53554	0.739170347851	0.63150	0.414095938206	0.27023	T	0.011209	0.10028	T	-0.484692	0.00695	T	-0.504381	0.21895	T	0.0190104904358857	0.00610	T	0.768923	0.39853	T	0.12089847	0.28439	0.1597907	0.37249	0.12089847	0.28439	0.1597907	0.37248	-4.669	0.33027	T	.	.	0.154	0.34160	B	.	.	2.145346	0.27324	17.42	0.98626354198143218	0.43852	0.80103	0.39831	D	AEFGBI	0.320833	0.42382	N	-0.369699618237352	0.26555	1.450118	-0.263900244380707	0.29297	1.640231	0.940091379908158	0.27417	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.86	3.95	0.44952	0.312000	0.19147	0.543000	0.19351	0.596000	0.33519	0.998000	0.41325	0.997000	0.33255	0.619000	0.31870	0.0:0.8384:0.0:0.1616	10.485	0.43907	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	763.33	55	chr1	205847907	.	C	G	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=684;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.38;MQRankSum=-0.741;QD=13.88;ReadPosRankSum=-1.24;SOR=1.248	GT:AD:DP:GQ:PL	0/1:26,29:55:99:777,0,649	18	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema 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	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	2917.33	231	chr1	208217558	.	G	T	2917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.829;DP=1241;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.056;SOR=0.599	GT:AD:DP:GQ:PL	0/1:123,108:231:99:2931,0,3452	18	0	1	0
chr1	212889195	212889195	A	G	exonic	FLVCR1	.	nonsynonymous SNV	FLVCR1:NM_014053:exon8:c.A1463G:p.Y488C	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	3407516	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0804261677751	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780491898	6.842e-06	6.84e-06	6.807e-06	6.877e-06	0.0002	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.015	0.61642	D	0.993	0.65571	D	0.848	0.60574	P	0.001333	0.39379	N	0.292166	0.999971	0.18612	N	3.125	0.87999	M	0.25	0.59449	T	-5.31	0.84457	D	0.666	0.67477	-0.5385	0.67220	T	0.346	0.71123	T	10	0.75491524	0.75910	D	0.080426	0.73459	D	0.228	0.52768	0.401	0.43081	0.794010472913	0.79210	0.6248225016940439	0.62415	0.573740725089	0.53422	0.320484161377	0.13495	T	0.492493	0.81643	T	-0.0790937	0.39862	T	-0.254535	0.49367	T	0.769604384899139	0.44415	D	0.926607	0.72946	D	0.17520937	0.38366	0.18327892	0.41308	0.17520937	0.38366	0.18327892	0.41307	-11.246	0.80990	D	.	.	0.085	0.10256	B	.	.	3.003999	0.40148	21.1	0.99463889982670961	0.65944	0.16071	0.19217	N	AEFBI	0.066502	0.13027	N	0.192343704921958	0.50831	3.269472	0.0463776055335076	0.41896	2.524841	0.232029545812521	0.18476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	1.173000	0.31529	6.131000	0.53917	0.756000	0.94297	0.031000	0.20493	0.916000	0.28226	0.034000	0.13613	0.8665:0.0:0.0:0.1335	11.595	0.50222	824	0.40336	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1020.33	102	chr1	212889195	.	A	G	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.969;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.107;SOR=0.711	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1034,0,1353	18	0	1	0
chr1	212895279	212895279	T	G	exonic	FLVCR1	.	nonsynonymous SNV	FLVCR1:NM_014053:exon10:c.T1657G:p.S553A	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	1	1515	5	1	0	7	0.00230491	.	.	.	280288	FLVCR1-related_disorder|Inborn_genetic_diseases|Retinal_dystrophy|not_specified|Posterior_column_ataxia-retinitis_pigmentosa_syndrome|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.008	0.0451937785314	0.0008	0.000199681	0.0002	0.0016	8.664e-05	0	0	0	0	6.076e-05	0.0001746	27	154602	rs149887215	9.994e-05	9.987e-05	0.0001	9.081e-05	0.0025	8.651e-05	8.139e-05	0.0021	0.0019	0.0025	4.472e-05	0	2.522e-05	0	0.0010	7.2e-06	0.0007	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.076	0.42614	T	0.001	0.07471	B	0.003	0.08700	B	0.002856	0.35836	N	0.231325	0.995976	0.23150	N	1.79	0.46772	L	-1.64	0.82533	D	-0.36	0.13035	N	0.099	0.08088	-0.5943	0.65048	T	0.398	0.74995	T	10	0.007948965	0.00180	T	0.045194	0.61862	D	0.180	0.45073	.	.	0.900275580692	0.89928	0.39560674530606715	0.39475	0.172134640921	0.19387	0.396480590105	0.24579	T	0.057905	0.30695	T	-0.372336	0.03478	T	-0.320841	0.42484	T	0.0122809105882335	0.00199	T	0.351565	0.07865	T	0.039296318	0.05398	0.04790438	0.07002	0.039296318	0.05398	0.04790438	0.07001	-5.668	0.43408	T	.	.	0.067	0.02370	B	.	.	1.433024	0.18516	13.78	0.98445884948229523	0.41564	0.24092	0.22285	N	AEFGBI	0.037539	0.05178	N	-0.392181702084928	0.25746	1.399956	-0.321124694809052	0.27417	1.521206	0.0252489144287933	0.13635	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.39	3.03	0.34070	0.913000	0.28233	1.153000	0.24496	0.665000	0.62972	0.536000	0.27236	0.215000	0.23672	0.945000	0.48827	0.0:0.0894:0.1737:0.7369	5.542	0.16331	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1453.33	105	chr1	212895279	.	T	G	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.344;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.023;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,63:105:99:1467,0,999	18	0	1	0
chr1	214646928	214646928	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358A:p.R2453K	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00209501714324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.33	0.02363	T	0.88	0.01664	N	0.033	0.00882	-0.9168	0.45984	T	0.003	0.00800	T	10	0.0232687	0.00604	T	0.002095	0.03855	T	0.035	0.08770	.	.	0.0401082797425	0.02173	0.04429739672639926	0.04373	0.0534996827264	0.05900	0.293804347515	0.09480	T	.	.	.	-0.375736	0.03314	T	-0.777495	0.02529	T	0.0201537649352779	0.00716	T	0.475652	0.14239	T	0.018695991	0.00392	0.029639555	0.01324	0.018695991	0.00392	0.029639555	0.01323	-2.072	0.03465	T	.	.	0.060	0.00949	B	.	.	-0.281984	0.02696	0.351	0.25108559144684195	0.01142	0.00826	0.03330	N	AEFBCI	0.020327	0.00792	N	-1.46868446636409	0.02074	0.0912144	-1.34166765200728	0.03904	0.1831196	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	1127.73	96	chr1	214646928	.	G	A	1127.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.846;DP=1307;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.1029;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,13:96:99:0|1:214646926_G_A:151,0,3247:214646926	17	0	1	1
chr1	214646930	214646933	GTGG	-	exonic	CENPF	.	frameshift deletion	CENPF:NM_016343:exon13:c.7360_7363del:p.V2454Qfs*21	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	608.79	97	chr1	214646929	.	AGTGG	A	608.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.286;DP=1712;ExcessHet=0.119;FS=156.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=3.23;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,13:97:99:0|1:214646926_G_A:148,0,3289:214646926	17	0	2	0
chr1	214646930	214646930	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	521.69	97	chr1	214646930	.	G	*	521.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.687;DP=1148;ExcessHet=0.3672;FS=272.812;InbreedingCoeff=-0.329;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,13:97:99:0|1:214646926_G_A:148,0,3289:214646926	5	0	2	12
chr1	214646931	214646931	T	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	526.21	97	chr1	214646931	.	T	*	526.21	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.344;DP=1165;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.3818;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=3.24;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,13:97:99:0|1:214646926_G_A:148,0,3289:214646926	2	0	2	15
chr1	214646932	214646932	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	520.36	97	chr1	214646932	.	G	*	520.36	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-3.694;DP=1227;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.2287;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=3.17;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,13:97:99:0|1:214646926_G_A:148,0,3289:214646926	9	0	2	8
chr1	214646933	214646933	-	CCAA	exonic	CENPF	.	frameshift insertion	CENPF:NM_016343:exon13:c.7363_7364insCCAA:p.A2456Nfs*5	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	612.54	96	chr1	214646933	.	G	GCCAA	612.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.781;DP=1137;ExcessHet=0.119;FS=155.141;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=3.19;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,13:96:99:0|1:214646926_G_A:151,0,3282:214646926	16	0	2	1
chr1	214646936	214646936	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7366A:p.A2456T	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00760239621579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.04742	T	0.944	0.02662	T	.	.	.	.	.	.	0.733314	0.06383	N	1.181070	1	0.08975	N	.	.	.	4.09	0.02973	T	-0.14	0.09135	N	0.04	0.01347	-0.8946	0.48521	T	0.006	0.02131	T	10	0.040916055	0.02701	T	0.007602	0.20166	T	0.021	0.04004	.	.	0.0297737177859	0.01360	0.03228745723439675	0.03176	0.0528722690581	0.05827	0.247272536159	0.03486	T	.	.	.	-0.346899	0.04924	T	-0.736073	0.04058	T	0.0141524250102874	0.00277	T	0.563244	0.19836	T	0.016506448	0.00202	0.030547872	0.01524	0.016506448	0.00202	0.030547872	0.01523	-4.772	0.34263	T	.	.	0.071	0.03887	B	.	.	-0.467823	0.01973	0.171	0.22124408372094057	0.00875	0.04042	0.09483	N	AEFBCI	0.031977	0.03525	N	-1.21544111961088	0.04775	0.2162557	-1.22169694613862	0.05563	0.2653855	0.732785307770276	0.23078	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-0.193	0.12593	-0.825000	0.04541	0.241000	0.16308	-0.134000	0.12905	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3323:0.0:0.2792:0.3885	3.680	0.07840	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	137.34	96	chr1	214646936	.	G	A	137.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.24;DP=1108;ExcessHet=0;FS=53.6;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.7;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,13:96:99:0|1:214646926_G_A:151,0,3282:214646926	18	0	1	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	G	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,4:36:21:0|1:225353860_A_G:21,0,1198:225353860	16	0	2	1
chr1	228294272	228294272	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon42:c.C11252T:p.T3751I,OBSCN:NM_052843:exon42:c.C11252T:p.T3751I,OBSCN:NM_001271223:exon47:c.C12539T:p.T4180I	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0201735341364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.32453	T	0.353	0.38016	T	0.0	0.14655	B	0.004	0.21939	B	0.923518	0.07491	N	1.041780	1	0.08975	N	0.735	0.18861	N	-0.28	0.67543	T	-1.48	0.54702	N	0.122	0.11340	-0.9758	0.35948	T	0.161	0.49548	T	10	0.11003399	0.20551	T	0.020174	0.42708	T	0.059	0.16972	0.376	0.38994	0.498001352042	0.49435	0.0673145378359585	0.06669	0.509482412268	0.49079	0.320209771395	0.13453	T	0.030201	0.21464	T	-0.17566	0.24383	T	-0.4901	0.23381	T	0.93339341878891	0.60012	D	0.0274473	0.00169	T	0.028963525	0.02316	0.03400118	0.02391	0.028963525	0.02316	0.03400118	0.02390	-6.436	0.49790	T	.	.	0.073	0.04681	B	.;.;.;.;.	.;.;.;.;.	-0.655175	0.01428	0.085	0.42708254415371338	0.03166	0.02387	0.06776	N	AEFBI	0.047912	0.08121	N	-1.10616218083006	0.06533	0.3009783	-1.07856981131101	0.08123	0.3980254	9.68060043178485E-5	0.04910	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.98	0.635	0.16895	-2.874000	0.00787	-12.426000	0.00526	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1224:0.54:0.1091:0.2284	3.845	0.08439	434	0.80536	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5479.33	452	chr1	228294272	.	C	T	5479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=1494;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.936;QD=12.12;ReadPosRankSum=-1.898;SOR=0.766	GT:AD:DP:GQ:PL	0/1:242,210:452:99:5493,0,6351	18	0	1	0
chr1	231206749	231206749	T	C	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon7:c.T1778C:p.V593A,TRIM67:NM_001300889:exon9:c.T1592C:p.V531A	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0214828593189	.	.	8.399e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs754140639	5.484e-06	6.156e-06	0	1.103e-05	7.014e-05	2.36e-06	1.71e-06	3.015e-05	2.051e-05	0	0	0	0	0	0	9.003e-07	1.659e-05	7.014e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.429	0.09572	T	0.172	0.30241	T	0.03	0.20002	B	0.065	0.27321	B	0.019363	0.27272	N	0.368747	0.870955	0.35562	D	0.805	0.20218	L	-0.79	0.73739	T	-0.91	0.24460	N	0.582	0.70088	-0.7914	0.55648	T	0.223	0.58716	T	10	0.26076698	0.43529	T	0.021483	0.44254	T	0.148	0.39182	0.527	0.63263	0.187035705434	0.18338	0.27355662827017657	0.27268	0.708055894707	0.61527	0.758804500103	0.75752	T	0.012171	0.22134	T	-0.169309	0.25339	T	-0.380347	0.35682	T	0.160813419733019	0.17931	T	0.755224	0.37818	T	0.07258207	0.16157	0.07564	0.16671	0.07258207	0.16156	0.07564	0.16671	-6.005	0.46372	T	.	.	0.101	0.31482	B	.;.;.	.;.;.	3.911685	0.57044	23.8	0.79482883411024685	0.12762	0.96157	0.67794	D	AEFDBI	0.853781	0.77076	D	-0.281199296099561	0.29875	1.660633	-0.128393364182046	0.34251	1.968088	0.999992274215425	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	4.37	0.51830	7.895000	0.85911	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0709:0.0:0.9291	11.419	0.49214	884	0.28482	Fibronectin type III|B30.2/SPRY domain|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|B30.2/SPRY domain|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	149	chr1	231206749	.	T	C	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=776;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.68;SOR=0.623	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1816,0,1818	18	0	1	0
chr1	236038223	236038223	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon5:c.C1166T:p.T389M	.	417	1078	26	1	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.314043215454	0.0003	0.000599042	0.0009	0	8.696e-05	0.0001	0	0.0005	0.0033	0.0042	0.000718	111	154602	rs142155830	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0043	0.0038	0	0.0004	7.656e-05	2.521e-05	1.874e-05	0.0059	0.0002	0.0010	0.0042	0.0003	0.0003	0.0004	0.0003	0.0048	0.0003	0.0002	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999373	0.46831	D	2.125	0.59049	M	-2.3	0.87671	D	-4.43	0.77554	D	0.693	0.69825	0.660	0.92675	D	0.769	0.92139	D	10	0.036665767	0.01978	T	0.314043	0.91274	D	0.659	0.87234	.	.	0.954265860692	0.95378	0.7883054061803797	0.78782	0.740464818204	0.63234	0.451162755489	0.32103	T	0.563417	0.85424	D	-0.0926796	0.37632	T	0.0940882	0.76517	D	0.0978770405054092	0.12121	T	0.938406	0.76842	D	0.582062	0.71721	0.5065998	0.71483	0.582062	0.71722	0.5065998	0.71484	-10.476	0.79195	D	0.5665382804887262	0.63396	0.241	0.47492	B	.;.	.;.	5.039584	0.83867	28.2	0.99896537898111659	0.96971	0.98699	0.85733	D	AEFDBI	0.886460	0.81786	D	0.750540878720996	0.82940	7.888642	0.748985187248683	0.86081	8.776579	0.997538186573651	0.35727	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.279000	0.72647	9.848000	0.81969	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.180	0.93603	479	0.77495	.;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	1	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1356.33	113	chr1	236038223	.	G	A	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=739;ExcessHet=0;FS=2.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.196;SOR=0.446	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1370,0,1604	18	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	458.79	71	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	458.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.812;DP=1180;ExcessHet=0.3672;FS=2.692;InbreedingCoeff=-0.0109;MLEAC=3;MLEAF=0.079;MQ=59.24;MQRankSum=0;QD=5.21;ReadPosRankSum=-0.566;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,20:71:99:0|1:240207634_G_C:247,0,1267:240207634	16	0	3	0
chr1	247257061	247257061	T	C	exonic	VN1R5	.	unknown	UNKNOWN	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.936e-05	0.0001	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs762363184	9.237e-05	9.235e-05	8.305e-05	0.0001	0.0002	7.959e-05	7.433e-05	9.117e-05	8.527e-05	5.974e-05	0.0002	3.826e-05	0	3.745e-05	0.0002	0.0001	3.313e-05	0	9.854e-05	9.85e-05	0.0002	4.034e-05	0.0002	6.005e-05	4.879e-05	0.0001	7.893e-05	4.825e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	136	chr1	247257061	.	T	C	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.849;DP=1257;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.665;SOR=0.676	GT:AD:DP:GQ:PL	0/1:58,78:136:99:2189,0,1714	18	0	1	0
chr2	287736	287736	C	T	exonic	ALKAL2	.	nonsynonymous SNV	ALKAL2:NM_001002919:exon2:c.G100A:p.G34R	.	.	.	.	.	.	.	.	.	.	.	3268217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0878907164309	.	.	9.956e-05	0	0	0.0078	.	0	0	0	1.29e-05	2	154602	rs376285161	5.048e-05	6.635e-05	6.184e-05	3.878e-05	0.0013	4.07e-05	3.713e-05	0.0010	0.0008	0	0	0	0.0013	0	0	1.823e-05	0.0002	0	0.0003	0.0003	0.0002	0.0003	0.0078	0.0002	0.0002	0.0059	0.0052	0	0	6.545e-05	0	0.0078	0	0	0	0	0	1.0	0.00964	T	0.799	0.04079	T	0.011	0.15914	B	0.005	0.11217	B	.	.	.	.	0.999869	0.19989	N	.	.	.	.	.	.	1.37	0.00867	N	0.067	0.03956	-0.9703	0.37136	T	0.030	0.12979	T	8	0.0026324093	0.00040	T	0.087891	0.75025	D	0.053	0.14996	0.215	0.13498	0.0401082797425	0.02173	0.296688179134057	0.29581	0.374827847212	0.38942	0.736999332905	0.72531	T	0.002491	0.01884	T	-0.561983	0.00247	T	-0.568995	0.15541	T	0.0183132554963503	0.00550	T	0.521348	0.16985	T	0.06423443	0.13606	0.06392094	0.12733	0.06423443	0.13606	0.06392094	0.12733	-3.004	0.10224	T	.	.	0.117	0.23883	B	.;.	.;.	0.700648	0.10695	7.388	0.93671653210374095	0.23567	0.01974	0.05975	N	AEFDBI	0.087656	0.17773	N	-1.60150658905817	0.01257	0.05468624	-1.61277592610225	0.01580	0.07161936	0.999999812648978	0.74766	0.685219	0.55550	0	0.541556	0.11502	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.01	-5.23	0.02584	-1.149000	0.03292	-0.977000	0.06726	0.574000	0.29054	0.001000	0.13787	0.000000	0.08366	0.050000	0.15192	0.0:0.3776:0.4071:0.2152	6.817	0.23019	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001623	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.000000	0.02632	546.33	67	chr2	287736	.	C	T	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.5;DP=733;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.142;SOR=0.923	GT:AD:DP:GQ:PL	0/1:45,22:67:99:560,0,1022	18	0	1	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	429	980	106	7	0	120	0.0576923	.	.	.	250315	not_specified|Anterior_segment_dysgenesis_7|not_provided	MedGen:CN169374|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.055388	0.030303	0.054348	0.093567	0.000000	0.094828	0.057927	0.030303	0.1053	6848.43	177	chr2	1643470	.	C	A	6848.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.192;DP=1214;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.474;SOR=0.73	GT:AD:DP:GQ:PL	0/1:92,85:177:99:1945,0,2297	15	0	4	0
chr2	6865171	6865171	G	A	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_001256477:exon1:c.C526T:p.L176F,CMPK2:NM_001256478:exon1:c.C526T:p.L176F,CMPK2:NM_207315:exon1:c.C526T:p.L176F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0477565252577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274218249	1.446e-06	4.788e-06	2.856e-06	0	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.298e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.158	0.33000	T	0.95	0.53885	P	0.698	0.54098	P	0.262964	0.15277	N	0.621864	1	0.08975	N	0.805	0.20218	L	0.67	0.52187	T	-1.79	0.42191	N	0.097	0.07811	-1.0520	0.13845	T	0.099	0.36856	T	10	0.1560404	0.29396	T	0.047757	0.63066	D	0.119	0.33137	0.546	0.66015	0.519675384768	0.51611	0.3788248531808046	0.37797	0.380299228091	0.39395	0.702941536903	0.67570	T	0.046529	0.27452	T	-0.165274	0.25951	T	-0.475181	0.24959	T	0.560328483581543	0.34867	D	0.610139	0.23115	T	0.08790344	0.20487	0.13635398	0.32622	0.08790344	0.20487	0.13635398	0.32621	-5.025	0.37110	T	.	.	0.171	0.37539	B	.;.;.	.;.;.	1.694444	0.21587	15.26	0.99591321284793799	0.73631	0.77860	0.38334	D	AEFDBCIJ	0.050567	0.08850	N	-0.388525010690167	0.25877	1.407999	-0.470790254955109	0.22963	1.249875	0.999999976037404	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.27	2.41	0.28644	0.195000	0.16960	0.052000	0.14014	0.656000	0.54149	0.051000	0.21449	0.000000	0.08366	0.217000	0.22379	0.0963:0.166:0.7377:0.0	7.613	0.27311	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	949.33	75	chr2	6865171	.	G	A	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.562;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.09;SOR=0.741	GT:AD:DP:GQ:PL	0/1:37,38:75:99:963,0,960	18	0	1	0
chr2	9995899	9995899	C	T	exonic	GRHL1	.	nonsynonymous SNV	GRHL1:NM_198182:exon13:c.C1520T:p.P507L	.	.	.	.	.	.	.	.	.	.	.	3967664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0101168702852	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs569314911	5.072e-05	5.267e-05	6.685e-05	3.443e-05	6.129e-05	4.133e-05	3.785e-05	4.911e-05	4.494e-05	5.986e-05	0	0	5.038e-05	0	0	6.129e-05	3.317e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.407e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0	0.654	0.04786	T	0.399	0.15059	T	0.001	0.12996	B	0.001	0.06944	B	0.000012	0.62929	D	0.151046	1	0.81001	D	-0.695	0.01866	N	2.88	0.10291	T	0.23	0.04613	N	0.658	0.70702	-1.0456	0.15650	T	0.032	0.13548	T	10	0.24736333	0.42015	T	0.010117	0.26280	T	0.145	0.38592	0.344	0.33788	0.147330786459	0.14319	0.542103960128118	0.54135	0.400537334798	0.41053	0.490575492382	0.37519	T	0.08317	0.36994	T	-0.244137	0.14824	T	-0.362761	0.37733	T	0.12320414426114	0.14740	T	0.882412	0.60266	D	0.079854615	0.18265	0.06739804	0.13937	0.079854615	0.18265	0.06739804	0.13936	-2.169	0.08055	T	.	.	0.067	0.03407	B	.;.	.;.	2.265996	0.28962	17.97	0.49480869309177605	0.04217	0.94486	0.61321	D	AEFBI	0.563136	0.57044	D	-0.120339329362143	0.36508	2.111177	0.103067083043214	0.44704	2.747124	0.999999786107822	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.622129	0.49086	0	.	.	6.03	6.03	0.97798	3.027000	0.49381	5.887000	0.50713	0.599000	0.40250	0.811000	0.29866	1.000000	0.68203	0.639000	0.32395	0.0:0.8763:0.1237:0.0	17.476	0.87551	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2178.33	158	chr2	9995899	.	C	T	2178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.213;DP=839;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.025;SOR=0.602	GT:AD:DP:GQ:PL	0/1:67,91:158:99:2192,0,1450	18	0	1	0
chr2	17773130	17773130	G	A	exonic	GEN1	.	nonsynonymous SNV	GEN1:NM_001130009:exon9:c.G988A:p.E330K,GEN1:NM_182625:exon9:c.G988A:p.E330K	.	444	1037	38	3	0	44	0.0207743	0.8458	0.612	.	1153896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.129	.	0.0065	0.0109824	0.0090	0.0125	0.0168	0.0001	0.0006	0.0057	0.0046	0.0229	0.0081176	1255	154602	rs115591812	0.0051	0.0052	0.0046	0.0055	0.0226	0.0050	0.0049	0.0217	0.0214	0.0112	0.0155	0.0049	0.0001	0.0011	0.0100	0.0034	0.0055	0.0226	0.0069	0.0069	0.0066	0.0072	0.0246	0.0066	0.0064	0.0210	0.0196	0.0112	0	0.0113	0.0049	0.0004	0.0004	0.0034	0.0038	0.0057	0.0246	0.062	0.36912	T	0.306	0.52389	T	0.002	0.09854	B	0.008	0.13708	B	0.000089	0.51296	D	0.073572	0.993258	0.81001	D	2.34	0.67151	M	0.95	0.43279	T	-2.53	0.54864	D	0.417	0.45709	-1.0641	0.10760	T	0.061	0.25419	T	10	0.00735268	0.00167	T	.	.	.	0.129	0.35316	.	.	0.582419091513	0.57913	0.5424418462297097	0.54169	0.037371724948	0.03961	0.545475900173	0.45219	T	0.019616	0.15597	T	-0.397063	0.02420	T	-0.325545	0.41964	T	0.0231760836256966	0.01044	T	0.873313	0.58144	D	0.60072464	0.72730	0.34498465	0.60188	0.60072464	0.72731	0.34498465	0.60188	-11.133	0.80382	D	.	.	0.149	0.33481	B	.;.;.	.;.;.	3.941149	0.57670	23.9	0.99688215440035388	0.79775	0.94390	0.61013	D	AEFGBI	0.342094	0.43836	N	-0.00866507055022603	0.41463	2.480468	0.1538148455974	0.47344	2.966091	0.991446762099155	0.32491	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.25	5.25	0.73169	2.280000	0.43103	6.704000	0.56380	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.1442:0.8558:0.0	14.782	0.69398	582	0.69555	.;.;.	.	.	.	.	.	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	0.009596	0.005102	0.005435	0.011765	0.000000	0.008621	0.018405	0.011364	0.02632	442.33	56	chr2	17773130	.	G	A	442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.21;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.617;SOR=0.716	GT:AD:DP:GQ:PL	0/1:33,23:56:99:456,0,934	18	0	1	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1775.33	146	chr2	26454684	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.578;DP=781;ExcessHet=0;FS=6.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.603;SOR=0.513	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1789,0,1817	18	0	1	0
chr2	26577581	26577581	T	C	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001322426:exon4:c.T376C:p.C126R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00349420076376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.982319	0.81001	D	.	.	.	.	.	.	-12.0	0.99623	D	0.157	0.16308	-0.6366	0.63291	T	0.217	0.57889	T	5	0.23637053	0.40716	T	0.003494	0.07908	T	0.340	0.66202	0.169	0.07419	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.312519	0.07529	T	-0.686689	0.06582	T	0.207034249767561	0.20797	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.52161	B	.	.	0.063962	0.04739	1.368	0.47122245112343819	0.03828	0.19329	0.20618	N	AEFDGBCI	0.017194	0.00435	N	-0.515612725649794	0.21574	1.145992	-0.590675273171236	0.19734	1.060196	0.99993487161957	0.46732	0.533608	0.22052	0	0.61073	0.52368	0	0.616487	0.41570	0	0.638833	0.57524	0	.	.	5.27	-2.17	0.06663	-0.512000	0.06397	-2.149000	0.04140	-0.843000	0.02775	0.824000	0.30046	0.000000	0.08366	0.004000	0.06068	0.0:0.2343:0.0:0.7657	10.645	0.44810	409	0.82198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3017.33	271	chr2	26577581	.	T	C	3017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.768;DP=961;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.367;SOR=0.548	GT:AD:DP:GQ:PL	0/1:137,134:271:99:3031,0,3539	18	0	1	0
chr2	27894638	27894638	G	A	exonic	BABAM2	.	nonsynonymous SNV	BABAM2:NM_001261840:exon2:c.G82A:p.G28R,BABAM2:NM_001329112:exon2:c.G82A:p.G28R,BABAM2:NM_001329114:exon2:c.G82A:p.G28R,BABAM2:NM_004899:exon2:c.G82A:p.G28R,BABAM2:NM_199191:exon2:c.G82A:p.G28R,BABAM2:NM_199192:exon2:c.G82A:p.G28R,BABAM2:NM_001329113:exon3:c.G82A:p.G28R,BABAM2:NM_001329115:exon3:c.G82A:p.G28R,BABAM2:NM_199193:exon3:c.G82A:p.G28R,BABAM2:NM_199194:exon3:c.G82A:p.G28R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.00930046502246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.013	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.115713	0.999996	0.58761	D	.	.	.	.	.	.	-3.86	0.74742	D	0.854	0.86297	-0.2252	0.77013	T	0.420	0.76543	T	9	0.9078649	0.90151	D	0.009	0.24413	T	0.466	0.76156	0.795	0.91584	0.614155820699	0.61104	0.947614613083645	0.94744	1.28414411616	0.82604	0.848523855209	0.89391	D	0.155631	0.77375	T	0.425853	0.91321	D	0.373932	0.91214	D	0.991959989070892	0.82329	D	0.959904	0.84889	D	0.61785024	0.73648	0.52643585	0.72639	0.61785024	0.73649	0.52643585	0.72640	-3.552	0.17168	T	.	.	0.998	0.97573	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.923592	0.81112	27.5	0.99944537549126489	0.99868	0.95746	0.65978	D	AEFBI	0.804241	0.72916	D	0.826588712620956	0.87736	9.323059	0.833491085174415	0.92014	11.19044	0.999999950235938	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.195000	0.77321	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.07	0.93113	129	0.94817	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1730.33	142	chr2	27894638	.	G	A	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=768;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.672;SOR=0.586	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1744,0,1874	18	0	1	0
chr2	29064997	29064997	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon2:c.G3739A:p.G1247S	.	0	1484	37	1	0	39	0.0129697	.	.	.	192268	not_specified|not_provided|Retinitis_pigmentosa_54|Retinitis_pigmentosa|Retinal_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|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	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0042	0.00938498	0.0155	0.0006	0.0027	0	0.0062	0.0103	0.0172	0.0374	0.0067593	1045	154602	rs187333111	0.0072	0.0073	0.0065	0.0080	0.0327	0.0071	0.0071	0.0317	0.0312	0.0007	0.0023	0.0058	0.0001	0.0020	0.0115	0.0062	0.0070	0.0327	0.0046	0.0046	0.0046	0.0045	0.0329	0.0043	0.0042	0.0288	0.0272	0.0012	0	0.0024	0.0081	0.0002	0.0025	0.0170	0.0056	0.0043	0.0329	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.381880	0.04425	N	1.414120	1	0.08975	N	.	.	.	2.36	0.16089	T	-0.84	0.22944	N	0.034	0.00942	-0.9482	0.41279	T	0.009	0.03448	T	10	0.0017879605	0.00023	T	.	.	.	0.075	0.21907	.	.	0.0762999501168	0.06990	0.018936384238081576	0.01847	0.0132446781389	0.01276	.	.	.	0.001653	0.01084	T	-0.794128	0.00009	T	-0.889111	0.00582	T	0.00190398541054891	0.00019	T	0.412159	0.10706	T	0.023061333	0.01014	0.039281707	0.03985	0.026608579	0.01740	0.04103841	0.04573	-3.133	0.11679	T	.	.	0.069	0.03128	B	.	.	-1.446038	0.00329	0.006	0.53496927683550433	0.04951	0.00499	0.02351	N	AEFDBI	0.029279	0.02734	N	-2.06439528467244	0.00153	0.006557744	-2.0799309052398	0.00206	0.009073605	0.999992787457231	0.74766	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	4.64	-7.23	0.01331	-2.074000	0.01463	-4.086000	0.02351	-2.403000	0.00294	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0964:0.2068:0.0:0.6968	10.729	0.45285	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	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	0.012703	0.010417	0.006849	0.005882	0.100000	0.008772	0.021605	0.022727	0.02632	851.33	69	chr2	29064997	.	C	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=883;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.06;SOR=0.859	GT:AD:DP:GQ:PL	0/1:33,36:69:99:865,0,720	18	0	1	0
chr2	29157221	29157221	G	T	exonic	CLIP4	.	nonsynonymous SNV	CLIP4:NM_001287527:exon11:c.G1273T:p.V425F,CLIP4:NM_001287528:exon11:c.G1273T:p.V425F,CLIP4:NM_024692:exon11:c.G1273T:p.V425F	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0061	0.00319489	0.0048	0.0017	0.0051	0	0.0009	0.0073	0.0088	0.0008	0.0049094	759	154602	rs75318351	0.0065	0.0065	0.0066	0.0065	0.0078	0.0064	0.0064	0.0077	0.0076	0.0010	0.0045	0.0029	0	0.0009	0.0052	0.0078	0.0060	0.0012	0.0047	0.0047	0.0053	0.0040	0.0074	0.0044	0.0043	0.0069	0.0066	0.0014	0.0374	0.0061	0.0020	0	0.0007	0.0068	0.0074	0.0033	0	0.509	0.29688	T	0.678	0.06147	T	0.09	0.25173	B	0.013	0.16460	B	0.068998	0.02228	N	1.672210	1	0.08975	N	1.245	0.31408	L	-0.84	0.74265	T	-0.58	0.17417	N	0.179	0.19325	-0.9440	0.41976	T	0.156	0.48841	T	10	0.004019618	0.00078	T	.	.	.	0.143	0.38195	.	.	0.318252033908	0.31440	0.3200345443645305	0.31916	0.157042325003	0.17732	0.284406214952	0.08114	T	0.018519	0.14916	T	-0.441172	0.01273	T	-0.397095	0.33722	T	0.00381944891225648	0.00040	T	0.745725	0.36599	T	0.040856384	0.05909	0.032742243	0.02056	0.040856384	0.05908	0.032742243	0.02056	-5.497	0.41840	T	.	.	0.068	0.05188	B	.;.;.;.	.;.;.;.	-0.760579	0.01187	0.058	0.91837050119510033	0.21148	0.02791	0.07505	N	AEFDBIJ	0.044468	0.07156	N	-1.48197057849711	0.01977	0.08682876	-1.59351432890094	0.01694	0.07698375	0.999999967347554	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	6.07	-9.06	0.00623	-0.394000	0.07357	-3.120000	0.03044	-0.135000	0.12811	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.2619:0.0941:0.5513:0.0927	8.099	0.30009	458	0.78890	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	613.33	60	chr2	29157221	.	G	T	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=666;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.083;SOR=0.465	GT:AD:DP:GQ:PL	0/1:36,24:60:99:627,0,955	18	0	1	0
chr2	31177797	31177797	C	T	exonic	CAPN14	.	nonsynonymous SNV	CAPN14:NM_001145122:exon19:c.G1804A:p.G602R,CAPN14:NM_001321270:exon19:c.G1276A:p.G426R	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00245399478336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909685933	1.072e-05	1.026e-05	1.128e-05	1.014e-05	1.39e-05	6.44e-06	5.1e-06	8.35e-06	6.62e-06	0	0	0	0	0	0	1.39e-05	0	0	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.114	0.28646	T	0.115	0.36630	T	0.0	0.02946	B	0.0	0.01387	B	0.782678	0.09458	N	0.874893	1	0.08975	N	-0.875	0.01443	N	1.35	0.34648	T	1.93	0.00441	N	0.194	0.21319	-1.0326	0.19618	T	0.024	0.10284	T	10	0.06970906	0.10041	T	0.002454	0.04840	T	0.125	0.34456	0.573	0.69695	0.0138822411134	0.00435	0.09669855147721473	0.09601	.	.	0.194304093719	0.00311	T	7.69E-4	0.00362	T	-0.437212	0.01343	T	-0.681785	0.06875	T	0.0711351759056318	0.08808	T	0.544146	0.18565	T	0.03574954	0.04267	0.05796874	0.10632	0.03574954	0.04267	0.05796874	0.10632	-3.871	0.21869	T	.	.	0.103	0.18622	B	.	.	0.087501	0.04920	1.496	0.84428545755533313	0.15286	0.00551	0.02524	N	AEFDBI	0.023329	0.01285	N	-1.58333201359359	0.01350	0.05881547	-1.67477551227832	0.01253	0.05647942	0.99999999638228	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	-10.2	0.00305	-0.772000	0.04800	-2.222000	0.04036	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.2799:0.2473:0.21:0.2628	0.145	0.00081	910	0.22284	EF-hand 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	.	.	.	.	.	.	.	.	0.02632	1454.33	155	chr2	31177797	.	C	T	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=818;ExcessHet=0;FS=2.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.588;SOR=0.833	GT:AD:DP:GQ:PL	0/1:89,66:155:99:1468,0,2319	18	0	1	0
chr2	37316479	37316479	G	A	exonic	PRKD3	.	nonsynonymous SNV	PRKD3:NM_005813:exon2:c.C46T:p.P16S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0132083827929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950826254	8.893e-06	8.893e-06	5.445e-06	1.238e-05	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	4.497e-06	9.935e-05	0	2.627e-05	2.626e-05	1.284e-05	4.032e-05	0.0002	8.14e-06	5.14e-06	5.283e-05	2.834e-05	2.411e-05	0	0.0002	0	0	0	0	0	0	0	0.098	0.30800	T	0.151	0.32355	T	0.001	0.07471	B	0.003	0.08700	B	0.001147	0.40056	N	0.254563	0.963811	0.38370	D	1.245	0.31408	L	-0.03	0.63077	T	-0.57	0.17210	N	0.065	0.13484	-0.9532	0.40416	T	0.145	0.46823	T	10	0.09675041	0.17377	T	0.013208	0.32434	T	0.041	0.10877	0.119	0.02647	0.772271509594	0.77018	0.37792637580828053	0.37707	0.26549997436	0.29105	0.457286059856	0.32939	T	0.071591	0.34246	T	-0.235974	0.15866	T	-0.493872	0.22986	T	0.0371487612566525	0.03182	T	0.654634	0.26482	T	0.03476483	0.03964	0.042354677	0.05024	0.03476483	0.03964	0.042354677	0.05024	-4.128	0.25701	T	.	.	0.069	0.03231	B	.;.	.;.	1.784542	0.22686	15.72	0.89736014642451534	0.19055	0.91725	0.54131	D	AEFBI	0.220695	0.34542	N	-0.650219626373267	0.17455	0.8982734	-0.550637914121366	0.20789	1.121692	0.999994443301198	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.67	3.85	0.43556	0.718000	0.25537	5.148000	0.47742	-0.182000	0.10109	0.957000	0.33433	1.000000	0.68203	0.622000	0.31948	0.1472:0.1387:0.7141:0.0	7.334	0.25772	572	0.70300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	86	chr2	37316479	.	G	A	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.327;DP=760;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.602;SOR=0.501	GT:AD:DP:GQ:PL	0/1:46,40:86:99:946,0,1094	18	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	0.02632	2386.33	173	chr2	43676045	.	T	C	2386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.733;DP=2615;ExcessHet=0;FS=3.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.43;SOR=0.998	GT:AD:DP:GQ:PL	0/1:88,85:173:99:2400,0,2516	18	0	1	0
chr2	47379942	47379942	A	G	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon7:c.A831G:p.I277M	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	1	1494	27	0	0	27	0.00895522	.	.	.	133308	Hereditary_cancer-predisposing_syndrome|EPCAM-related_disorder|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0330641448387	0.0018	0.000798722	0.0023	0.0007	0.0021	0.0001	0.0013	0.0028	0.0024	0.0032	0.0018758	290	154602	rs115283528	0.0017	0.0017	0.0016	0.0018	0.0203	0.0016	0.0016	0.0173	0.0162	0.0008	0.0018	0.0087	2.52e-05	0.0021	0.0203	0.0013	0.0029	0.0031	0.0015	0.0015	0.0013	0.0016	0.0023	0.0013	0.0012	0.0013	0.0012	0.0004	0	0.0013	0.0089	0	0.0019	0.0442	0.0015	0.0033	0.0023	0.017	0.51248	D	0.008	0.69154	D	0.744	0.43069	P	0.23	0.38212	B	0.095263	0.20132	N	0.561927	0.974431	0.26319	N	1.87	0.49600	L	-0.73	0.73100	T	-0.59	0.17624	N	0.411	0.45142	-0.8956	0.48427	T	0.157	0.48858	T	10	0.00895828	0.00203	T	0.033064	0.54719	D	0.127	0.34888	.	.	0.608920829255	0.60578	0.30863277506753106	0.30776	0.0225156976006	0.02270	0.322267889977	0.13764	T	0.043546	0.71266	T	-0.396175	0.02452	T	-0.346469	0.39609	T	0.0334976814454722	0.02553	T	0.832417	0.50060	T	0.04547569	0.07452	0.05144522	0.08279	0.047041897	0.07974	0.052679587	0.08724	-7.486	0.57512	T	0.11134327674242744	0.09510	0.120	0.24666	B	.;.	.;.	1.650257	0.21054	15.03	0.97568116696703333	0.34664	0.73255	0.35835	D	AEFBI	0.156726	0.28213	N	-0.375635278500224	0.26339	1.436784	-0.409902969695779	0.24706	1.354463	7.77684535278468E-4	0.07793	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.4	-0.506	0.11391	1.082000	0.30415	0.635000	0.20265	0.756000	0.94297	1.000000	0.71638	0.948000	0.28948	0.259000	0.23493	0.4028:0.2938:0.1596:0.1438	1.214	0.01794	868	0.31772	.;.	.	.	.	.	.	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	0.017623	0.025253	0.025815	0.023392	0.000000	0.008621	0.009146	0.007576	0.02632	621.33	65	chr2	47379942	.	A	G	621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.073;SOR=0.737	GT:AD:DP:GQ:PL	0/1:37,28:65:99:635,0,884	18	0	1	0
chr2	47521602	47521602	G	A	exonic	KCNK12	.	nonsynonymous SNV	KCNK12:NM_022055:exon2:c.C598T:p.L200F	.	418	1089	13	2	0	17	0.00774487	.	.	.	2743853	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00789649830827	0.0013	0.000998403	0.0042	0.0013	0.0063	0.0007	0.0031	0.0054	0.0059	0.0040	0.0014295	221	154602	rs200300645	0.0015	0.0015	0.0015	0.0016	0.0127	0.0015	0.0015	0.0103	0.0095	0.0008	0.0022	0.0095	2.666e-05	0.0022	0.0127	0.0011	0.0028	0.0030	0.0015	0.0015	0.0014	0.0016	0.0021	0.0013	0.0013	0.0012	0.0011	0.0007	0	0.0014	0.0092	0	0.0019	0.0442	0.0014	0.0043	0.0021	0.066	0.36113	T	0.05	0.48080	T	0.294	0.32391	B	0.174	0.35540	B	0.610702	0.10869	U	0.810288	0.843717	0.28595	N	0.695	0.17993	N	2.42	0.15376	T	-0.78	0.21644	N	0.027	0.00571	-1.0081	0.27510	T	0.023	0.09650	T	10	0.0046395063	0.00097	T	0.007896	0.20955	T	0.035	0.08770	.	.	0.102598925029	0.09809	0.6752524843428158	0.67463	1.88089738843	0.92596	0.552733778954	0.46243	T	0.054211	0.29661	T	-0.638529	0.00085	T	-0.694595	0.06126	T	0.00454185760674965	0.00048	T	0.711729	0.32279	T	0.060103748	0.12295	0.08195359	0.18668	0.060103748	0.12295	0.08195359	0.18667	-6.939	0.53588	T	.	.	0.103	0.18539	B	.	.	2.553711	0.33055	19.23	0.97334824037469136	0.33442	0.23911	0.22227	N	ALL	0.299254	0.40836	N	-0.432187918253378	0.24349	1.314052	-0.360911018509541	0.26173	1.44397	0.99999999992317	0.74766	0.695654	0.57023	0	0.218748	0.04544	0	0.723109	0.80598	0	0.618803	0.45993	0	.	.	4.06	2.2	0.26966	0.479000	0.21938	6.089000	0.53426	0.658000	0.54486	0.130000	0.23345	1.000000	0.68203	0.991000	0.66497	0.1793:0.245:0.3663:0.2093	1.210	0.01786	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015720	0.015789	0.021798	0.029412	0.000000	0.000000	0.003106	0.007576	0.02632	1430.33	101	chr2	47521602	.	G	A	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=788;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.876;SOR=0.825	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1444,0,1486	18	0	1	0
chr2	47799746	47799746	A	G	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A1373G:p.H458R,MSH6:NM_001281493:exon3:c.A857G:p.H286R,MSH6:NM_000179:exon4:c.A1763G:p.H588R,MSH6:NM_001281494:exon4:c.A857G:p.H286R	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	182080	Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_5|Endometrial_carcinoma|not_provided|Mismatch_repair_cancer_syndrome_3|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MedGen:C3661900|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|MeSH:D003123,MedGen:C0009405	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.872	0.115947713134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786202725	3.215e-05	3.215e-05	4.492e-05	1.925e-05	4.047e-05	2.478e-05	2.22e-05	3.085e-05	2.753e-05	0	0	0	0	0	0	4.047e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.39097	T	0.12	0.37730	T	0.771	0.43934	P	0.449	0.46066	P	0.000001	0.62929	D	0.098035	1	0.81001	D	3.23	0.89537	M	-2.03	0.85613	D	-4.96	0.85027	D	0.876	0.92550	0.244	0.86643	D	0.611	0.86246	D	10	0.8728316	0.86558	D	0.115948	0.79528	D	0.872	0.96170	0.547	0.66156	0.894629328705	0.89358	0.76952613567449	0.76901	.	.	0.672458648682	0.63188	T	0.834048	0.96066	D	0.429812	0.91522	D	0.379619	0.91417	D	0.98840606212616	0.78739	D	0.947205	0.79983	D	0.8481024	0.87196	0.66364753	0.80283	0.8481024	0.87197	0.66364753	0.80284	-9.118	0.68472	D	0.3392007059267185	0.43702	0.203	0.53480	B	.;.;.;.;.	.;.;.;.;.	3.720188	0.53157	23.3	0.99545296056206545	0.70773	0.99104	0.91284	D	AEFBCI	0.918408	0.88743	D	0.5778617530878	0.71794	5.705452	0.615667157578967	0.76075	6.425115	0.999999999967214	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	5.25	0.73169	9.255000	0.94710	11.247000	0.90615	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.160	0.72452	904	0.23766	.;.;DNA mismatch repair protein MutS, connector domain;DNA mismatch repair protein MutS, connector 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	.	.	.	.	.	.	.	.	0.02632	1627.33	123	chr2	47799746	.	A	G	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.86;DP=871;ExcessHet=0;FS=0.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.11;SOR=0.825	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1641,0,1455	18	0	1	0
chr2	48479951	48479951	C	T	exonic	PPP1R21	.	nonsynonymous SNV	PPP1R21:NM_001135629:exon13:c.C1253T:p.T418I,PPP1R21:NM_001193475:exon13:c.C1253T:p.T418I,PPP1R21:NM_152994:exon13:c.C1253T:p.T418I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00359636974763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.128	0.36233	T	0.773	0.44016	P	0.165	0.35299	B	0.027577	0.25736	N	0.442434	0.663311	0.30429	N	1.59	0.40313	L	.	.	.	-0.66	0.19085	N	0.612	0.66873	-0.9499	0.40989	T	0.088	0.34133	T	9	0.4482569	0.58534	T	0.003596	0.08216	T	0.059	0.16972	0.588	0.71623	0.344945010812	0.34105	0.40029729735461456	0.39944	0.016044927882	0.01538	0.502808570862	0.39219	T	0.033299	0.22856	T	-0.0792343	0.39838	T	-0.351591	0.39022	T	0.575351997024156	0.35440	D	0.89751	0.64163	D	0.1166079	0.27500	0.12516841	0.30162	0.1166079	0.27500	0.12516841	0.30162	-4.005	0.25423	T	.	.	0.150	0.39271	B	.;.;.	.;.;.	3.021204	0.40437	21.2	0.99843491362085812	0.92403	0.81408	0.40818	D	AEFGBCI	0.153586	0.27847	N	0.196853538183113	0.51047	3.289271	0.328588808232513	0.57227	3.887599	0.999998625600317	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	3.120000	0.50123	4.052000	0.41516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8575:0.1425:0.0	14.956	0.70760	659	0.61982	.;.;Uncharacterised domain KLRAQ/TTKRSYEDQ, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2116.33	190	chr2	48479951	.	C	T	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=843;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.343;SOR=0.596	GT:AD:DP:GQ:PL	0/1:99,91:190:99:2130,0,2413	18	0	1	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	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	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,35:67:99:845,0,773	16	0	3	0
chr2	64553332	64553332	A	G	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A1858G:p.T620A,AFTPH:NM_001375969:exon2:c.A1858G:p.T620A,AFTPH:NM_001375970:exon2:c.A1858G:p.T620A,AFTPH:NM_001375971:exon2:c.A1858G:p.T620A,AFTPH:NM_001375972:exon2:c.A1858G:p.T620A,AFTPH:NM_001375973:exon2:c.A1858G:p.T620A,AFTPH:NM_017657:exon2:c.A1858G:p.T620A,AFTPH:NM_203437:exon2:c.A1858G:p.T620A	.	437	1068	16	1	0	18	0.00835655	.	.	.	2811968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00948321171599	0.0034	0.00199681	0.0033	0.0005	0.0047	0	0.0005	0.0048	0.0022	0.0011	0.0032729	506	154602	rs34934815	0.0036	0.0036	0.0037	0.0036	0.0075	0.0036	0.0035	0.0057	0.0051	0.0009	0.0041	0.0069	0	0.0004	0.0075	0.0041	0.0037	0.0008	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0043	0.0041	0.0007	0	0.0050	0.0098	0	9.418e-05	0.0034	0.0047	0.0071	0.0004	0.06	0.37326	T	0.185	0.36765	T	0.144	0.27697	B	0.081	0.28987	B	0.763166	0.09606	N	0.901569	1	0.08975	N	1.735	0.44892	L	1.85	0.24656	T	-0.89	0.25551	N	0.104	0.08786	-1.0046	0.28577	T	0.067	0.27399	T	10	0.0027565658	0.00043	T	0.009483	0.24832	T	0.026	0.05648	.	.	0.497932935699	0.49429	0.10551513955855517	0.10481	0.133463505659	0.15028	0.232785195112	0.02181	T	0.004055	0.03463	T	-0.493843	0.00619	T	-0.475609	0.24915	T	0.0116994565290231	0.00179	T	0.605739	0.22785	T	0.047546048	0.08144	0.0723883	0.15610	0.047546048	0.08144	0.0723883	0.15610	-3.663	0.18773	T	.	.	0.083	0.09433	B	.;.;.	.;.;.	1.171557	0.15615	11.98	0.9401678727682018	0.24121	0.87132	0.46580	D	AEFBI	0.086384	0.17514	N	-0.337635485713454	0.27729	1.523727	-0.264747097594054	0.29267	1.638415	0.999514073788788	0.40117	0.706298	0.61202	0	0.606735	0.50208	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	3.6	0.40374	2.497000	0.45014	4.198000	0.42449	0.756000	0.94297	0.908000	0.31627	0.998000	0.33993	0.953000	0.50222	0.8013:0.0:0.069:0.1297	7.163	0.24851	788	0.46569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.006793	0.000000	0.200000	0.008621	0.006098	0.003788	0.02632	781.33	62	chr2	64553332	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.441;DP=693;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.169;SOR=0.892	GT:AD:DP:GQ:PL	0/1:32,30:62:99:795,0,958	18	0	1	0
chr2	70933146	70933146	A	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon3:c.A815T:p.Y272F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.294915890228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.939	0.52645	P	0.596	0.50617	P	0.000000	0.84330	D	0.000000	0.999653	0.48079	D	2.74	0.80084	M	-3.01	0.92208	D	-1.67	0.39887	N	0.341	0.38232	0.141	0.84897	D	0.652	0.87900	D	10	0.52339953	0.62771	D	0.294916	0.90689	D	0.654	0.86986	0.518	0.61915	0.989034557547	0.98891	0.31484867574840686	0.31397	0.208274733947	0.23301	0.533725321293	0.43560	T	0.230241	0.59627	T	0.161684	0.70356	D	-0.00552849	0.69976	D	0.969543397426605	0.68627	D	0.819918	0.47811	T	0.4256124	0.62464	0.28458568	0.54458	0.4256124	0.62464	0.28458568	0.54457	-3.556	0.17225	T	.	.	0.161	0.35540	B	.	.	3.752440	0.53796	23.4	0.9844840477754	0.41598	0.99374	0.95195	D	AEFDBI	0.896540	0.83772	D	0.239127202668127	0.53103	3.480803	0.248658837927782	0.52573	3.431294	0.99997296769031	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.06	3.91	0.44383	2.764000	0.47295	5.340000	0.48343	0.691000	0.84096	0.983000	0.35670	1.000000	0.68203	0.809000	0.38129	0.9102:0.0:0.0898:0.0	8.911	0.34711	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1765.33	126	chr2	70933146	.	A	T	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=810;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.459;SOR=0.614	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1779,0,1443	18	0	1	0
chr2	73701287	73701287	G	A	exonic	NAT8B	.	unknown	UNKNOWN	.	422	1082	17	1	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00499201	0.0042	0.0010	0.0030	0.0067	0.0006	0.0048	0	0.0051	0.0042302	654	154602	rs116094901	0.0057	0.0057	0.0058	0.0056	0.0104	0.0056	0.0055	0.0096	0.0092	0.0010	0.0024	0.0071	0.0104	0.0003	0.0085	0.0061	0.0067	0.0036	0.0038	0.0038	0.0042	0.0034	0.0095	0.0035	0.0034	0.0074	0.0066	0.0012	0	0.0026	0.0086	0.0095	9.411e-05	0.0034	0.0056	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.008621	0.012195	0.007576	0.07895	6212.77	159	chr2	73701287	.	G	A	6212.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.79;DP=984;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.817;SOR=0.722	GT:AD:DP:GQ:PL	0/1:96,63:159:99:1637,0,2446	17	1	1	0
chr2	85343319	85343319	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1756A:p.A586T	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0089	.	0.0086	0.0052	0.0056	0	0.0086	0.0119	0.0198	0.0030	0.0078524	1214	154602	rs143283662	0.0081	0.0095	0.0081	0.0081	0.0296	0.0080	0.0079	0.0260	0.0246	0.0051	0.0044	0.0146	2.519e-05	0.0085	0.0296	0.0088	0.0092	0.0023	0.0079	0.0087	0.0082	0.0077	0.0109	0.0076	0.0074	0.0102	0.0100	0.0045	0.0044	0.0069	0.0168	0.0002	0.0054	0.0340	0.0109	0.0128	0.0037	0.359	0.11957	T	0.435	0.13518	T	0.392	0.34646	B	0.06	0.26717	B	0.021399	0.26843	N	0.378221	0.886002	0.35849	D	1.145	0.29067	L	1.85	0.24472	T	-0.13	0.08971	N	0.027	0.00571	-1.0511	0.14092	T	0.022	0.09330	T	10	0.0038142502	0.00072	T	.	.	.	0.041	0.10877	.	.	0.0806252709748	0.07271	0.34702988945191915	0.34616	0.0721809193313	0.08090	0.345627218485	0.17275	T	0.003362	0.02768	T	-0.485256	0.00690	T	-0.462848	0.26288	T	0.00579000855353255	0.00063	T	0.782822	0.41925	T	0.0648611	0.13805	0.06569235	0.13352	0.0648611	0.13805	0.06569235	0.13352	-6.015	0.46406	T	.	.	0.074	0.05145	B	.	.	2.508222	0.32389	19.03	0.97707709646145702	0.35477	0.14533	0.18453	N	AEFDGBI	0.082621	0.16731	N	-0.468265707214611	0.23126	1.23968	-0.422141506085331	0.24348	1.332844	0.905570000125748	0.26208	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.741806	0.99463	0	.	.	5.02	2.79	0.31792	0.546000	0.22991	0.355000	0.17517	0.505000	0.23025	0.159000	0.23783	0.026000	0.21063	0.654000	0.32802	0.0:0.6331:0.0:0.3669	5.069	0.13935	888	0.27761	.	.	.	.	.	chr2:85570442	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.048913	0.043860	0.050000	0.043103	0.021341	0.007576	0.05263	1343.83	110	chr2	85343319	.	C	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=864;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=0.308;SOR=0.545	GT:AD:DP:GQ:PL	0/1:68,42:110:99:959,0,1633	17	0	2	0
chr2	85343340	85343340	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1735A:p.G579S	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0179667562974	0.0014	0.000998403	0.0018	0.0004	0.0003	0	0.0011	0.0028	0.0022	0.0013	0.0015782	244	154602	rs142803140	0.0016	0.0018	0.0016	0.0016	0.0088	0.0016	0.0016	0.0068	0.0061	0.0005	0.0002	0.0010	2.519e-05	0.0008	0.0088	0.0018	0.0019	0.0012	0.0013	0.0014	0.0015	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0004	0	0.0004	0.0020	0	0.0008	0.0103	0.0022	0.0014	0.0006	0.049	0.39820	D	0.16	0.31427	T	0.876	0.48154	P	0.666	0.52990	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	1.81	0.25182	T	-4.1	0.74900	D	0.742	0.74189	-1.1336	0.01618	T	0.084	0.32814	T	10	0.039714843	0.02482	T	0.017967	0.39871	T	0.320	0.64215	.	.	0.158396225186	0.15383	0.9026882381291687	0.90240	0.272573378288	0.29765	0.552577853203	0.46222	T	0.11436	0.43212	T	-0.0992027	0.36555	T	0.0785587	0.75481	D	0.151198744773865	0.17199	T	0.918208	0.70605	D	0.62703764	0.74140	0.5067506	0.71493	0.62703764	0.74141	0.5067506	0.71493	-6.652	0.51448	T	.	.	0.231	0.46413	B	.	.	4.564284	0.71947	25.8	0.99810560419153793	0.89442	0.98846	0.87627	D	AEFDGBI	0.819616	0.74060	D	0.352482948944565	0.58870	4.062078	0.389883387069412	0.60939	4.287482	0.999999999968406	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.02	5.02	0.66742	7.298000	0.78152	5.853000	0.50357	0.505000	0.23025	1.000000	0.71638	0.999000	0.35428	0.699000	0.34110	0.0:1.0:0.0:0.0	16.187	0.81775	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.016304	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	521.33	93	chr2	85343340	.	C	T	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.277;SOR=0.607	GT:AD:DP:GQ:PL	0/1:68,25:93:99:535,0,1849	18	0	1	0
chr2	85550733	85550733	G	T	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon13:c.C1735A:p.P579T,GGCX:NM_000821:exon14:c.C1906A:p.P636T	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	287409	not_provided|Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_1|Body_skin_hyperlaxity_due_to_vitamin_K-dependent_coagulation_factor_deficiency|GGCX-related_disorder	MedGen:C3661900|MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434|MONDO:MONDO:0012570,MedGen:C1835813,OMIM:610842,Orphanet:91135|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0471386177847	0.0012	0.000599042	0.0009	0.0002	0.0009	0	0	0.0013	0.0044	0.0003	0.0008603	133	154602	rs61733105	0.0008	0.0008	0.0008	0.0008	0.0126	0.0008	0.0007	0.0102	0.0094	0.0003	0.0019	0.0064	2.519e-05	0.0001	0.0126	0.0007	0.0015	0.0003	0.0014	0.0014	0.0013	0.0015	0.0068	0.0012	0.0011	0.0057	0.0053	0.0003	0	0.0068	0.0055	0	0.0003	0.0204	0.0009	0.0019	0.0002	0.01	0.56456	D	0.039	0.51737	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	1.56	0.29602	T	-2.0	0.46146	N	0.544	0.57092	-0.7714	0.56781	T	0.208	0.56676	T	10	0.009128422	0.00206	T	0.047139	0.62782	D	0.146	0.38789	.	.	0.351830644314	0.34792	0.5763554698397407	0.57564	1.01389843922	0.74865	0.572177171707	0.48986	T	0.12056	0.44288	T	-0.151149	0.28131	T	0.00363255	0.70570	D	0.0432210997207127	0.04278	T	0.89771	0.64209	D	0.30495334	0.53345	0.22007027	0.46769	0.292351	0.52210	0.2105526	0.45445	-5.694	0.43640	T	0.6604570120523879	0.73387	0.103	0.19073	B	.;.	.;.	4.511141	0.70647	25.6	0.99673825937048144	0.78782	0.97373	0.74339	D	AEFDBCIJ	0.725842	0.67470	D	0.806940358747134	0.86540	8.917855	0.802862888699582	0.89990	10.20908	0.999999999999991	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.66	5.66	0.87293	6.660000	0.74263	8.638000	0.77881	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.614	0.87965	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	591.33	46	chr2	85550733	.	G	T	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.113;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.385;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,23:46:99:605,0,649	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,31:312:99:0|1:94876587_C_A:456,0,11618:94876587	7	0	12	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	.	.	.	.	.	.	.	.	0.1053	1153.43	347	chr2	94876599	.	C	T	1153.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.864;DP=4199;ExcessHet=0.7564;FS=4.755;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=57.82;MQRankSum=-14.46;QD=1;ReadPosRankSum=-2.48;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,42:347:99:0|1:94876587_C_A:845,0,12680:94876587	15	0	4	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,67:425:99:0|1:94876587_C_A:1736,0,14831:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,82:473:99:0|1:94876587_C_A:2206,0,16064:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:466,97:563:99:0|1:94876670_C_T:2671,0,19082:94876670	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:473,97:570:99:0|1:94876670_C_T:2650,0,19301:94876670	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:492,69:561:99:.:.:1282,0,12963:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:502,62:564:99:0|1:94876737_C_A:1093,0,20729:94876737	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:498,62:560:99:0|1:94876737_C_A:1104,0,20606:94876737	12	0	7	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:200,97:297:99:2155,0,5200	0	0	19	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:151,147:298:99:3539,0,4138	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:147,75:222:99:2263,0,4209	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:188,40:228:99:715,0,7498	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:165,61:226:99:1735,0,4705	0	0	19	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,48:133:99:.:.:1760,0,3332:.	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,48:135:99:0|1:95859970_G_T:1754,0,3446:95859970	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,48:133:99:0|1:95859970_G_T:1760,0,3377:95859970	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:89,43:132:99:1306,0,2293	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,39:122:99:0|1:95860002_T_A:1363,0,3320:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,38:119:99:0|1:95860002_T_A:1331,0,3278:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,31:113:99:0|1:95860020_G_A:1055,0,3289:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,30:111:99:0|1:95860020_G_A:1016,0,3257:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:64,25:89:99:858,0,1699	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,33:164:99:0|1:95927222_G_GAT:991,0,5360:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,45:184:99:0|1:95927222_G_GAT:1471,0,5660:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,70:215:99:0|1:95927222_G_GAT:2503,0,5878:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,110:272:99:0|1:95927222_G_GAT:4131,0,6471:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,139:322:99:0|1:95927222_G_GAT:5205,0,7241:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,142:328:99:0|1:95927222_G_GAT:5261,0,7255:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,57:216:99:0|1:95929092_T_C:1798,0,6441:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,69:246:99:0|1:95929092_T_C:2364,0,7224:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,91:287:99:0|1:95929092_T_C:3231,0,7956:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,92:295:99:0|1:95929092_T_C:3252,0,8247:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,99:304:99:0|1:95929092_T_C:3496,0,8277:95929092	0	0	19	0
chr2	96327136	96327136	G	A	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G529A:p.D177N,ITPRIPL1:NM_001163523:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001163524:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001324490:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001008949:exon3:c.G505A:p.D169N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00558482911478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.044	0.55759	D	0.0	0.07471	B	0.002	0.10090	B	0.160639	0.17674	N	0.418407	0.525751	0.31934	D	1.04	0.26193	L	2.27	0.17596	T	-3.62	0.69593	D	0.059	0.03069	-0.8327	0.53127	T	0.144	0.46714	T	10	0.17515224	0.32431	T	0.005585	0.14409	T	0.049	0.13647	0.214	0.13354	0.299086750705	0.29526	0.28578010142256716	0.28491	0.156659074234	0.17688	0.32191824913	0.13713	T	0.007	0.06517	T	-0.11828	0.33405	T	-0.407678	0.32492	T	0.347412616014481	0.26917	T	0.817618	0.47476	T	0.07478621	0.16806	0.04965615	0.07632	0.07478621	0.16806	0.04965615	0.07631	-2.984	0.10786	T	.	.	0.108	0.20508	B	.;.;.;.	.;.;.;.	3.925567	0.57339	23.8	0.8981176582912368	0.19122	0.94831	0.62480	D	AEFDBI	0.489439	0.52734	N	0.288845129259457	0.55582	3.722296	0.402351362852543	0.61709	4.375149	0.999999986436515	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	5.276000	0.65391	8.709000	0.78130	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.400	0.87347	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4200.33	305	chr2	96327136	.	G	A	4200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=1106;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.271;SOR=0.702	GT:AD:DP:GQ:PL	0/1:142,163:305:99:4214,0,3272	18	0	1	0
chr2	97113741	97113741	T	A	exonic	ANKRD36	.	startloss	ANKRD36:NM_001354587:exon1:c.T2A:p.M1?,ANKRD36:NM_198555:exon1:c.T2A:p.M1?	.	419	1085	17	1	0	19	0.00867976	.	.	.	2812121	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00106518764044	.	.	0.0007	0	0.0009	0	0.0005	0.0009	0.0011	0.0002	0.0001229	19	154602	rs200032015	0.0011	0.0016	0.0011	0.0012	0.0070	0.0011	0.0011	0.0052	0.0047	8.962e-05	0.0016	0.0002	2.557e-05	0.0011	0.0070	0.0012	0.0021	0.0006	0.0022	0.0023	0.0023	0.0021	0.0035	0.0020	0.0020	0.0031	0.0029	0.0006	0	0.0030	0	0.0002	0.0012	0.0204	0.0035	0.0043	0.0008	0.001	0.78490	D	0.003	0.76473	D	0.051	0.22415	B	0.006	0.12133	B	.	.	.	.	0.99999	0.08975	N	.	.	.	1.46	0.32238	T	0.12	0.05604	N	0.227	0.27792	-0.9921	0.32063	T	0.053	0.22346	T	7	0.01968062	0.00443	T	0.001065	0.01215	T	0.052	0.14661	.	.	0.227934060464	0.22382	.	.	.	.	.	.	.	8.56E-4	0.00427	T	-0.539227	0.00339	T	-0.613459	0.11706	T	0.00988814057269051	0.00131	T	0.9	0.65058	D	0.44090632	0.63461	0.4275052	0.66493	0.44090632	0.63461	0.4275052	0.66494	-8.821	0.66538	D	.	.	.	.	.	.;.;.;.	.;.;.;.	0.655734	0.10239	6.978	0.76167093785279882	0.11360	0.03592	0.08815	N	ALL	0.008833	0.00045	N	-1.24055682125328	0.04425	0.199695	-1.40772010868346	0.03174	0.1475413	0.999398086805947	0.39470	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-1.847000	0.01767	-0.970000	0.06749	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005285	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.015152	0.02632	2516.33	176	chr2	97113741	.	T	A	2516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.93;DP=805;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.91;MQRankSum=-11.14;QD=14.3;ReadPosRankSum=-3.358;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,68:176:99:0|1:97113736_G_C:2530,0,4330:97113736	18	0	1	0
chr2	97113750	97113750	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.G11A:p.G4D,ANKRD36:NM_198555:exon1:c.G11A:p.G4D	.	420	1061	22	1	18	42	0.0111836	.	.	.	2812122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00115918542162	.	.	0.0003	0	0.0005	0	0	0.0005	0	6.072e-05	0.0002911	45	154602	rs2315151	0.0012	0.0017	0.0011	0.0012	0.0070	0.0011	0.0011	0.0053	0.0047	0.0001	0.0018	0.0001	2.557e-05	0.0008	0.0070	0.0012	0.0021	0.0006	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0006	0	0.0031	0	0.0006	0.0009	0.0205	0.0034	0.0043	0.0008	0.961	0.02093	T	0.873	0.03589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.47	0.31987	T	-0.83	0.22727	N	0.116	0.18920	-1.0277	0.21200	T	0.030	0.12717	T	8	0.0074519515	0.00169	T	0.001159	0.01459	T	0.017	0.02790	.	.	0.0297737177859	0.01360	.	.	.	.	0.540459513664	0.44510	T	0.005871	0.05316	T	-0.686301	0.00044	T	-0.763838	0.02977	T	0.000916655189181022	0.00009	T	0.20228	0.02325	T	0.08302275	0.19152	0.13654648	0.32662	0.08302275	0.19151	0.13654648	0.32661	-4.103	0.25335	T	.	.	0.079	0.35435	B	.;.;.;.	.;.;.;.	-0.609451	0.01547	0.101	0.76287701801026975	0.11407	0.01420	0.04791	N	ALL	0.017382	0.00452	N	-2.08254664144961	0.00140	0.005981055	-2.17440596492091	0.00128	0.005612994	0.999994122269243	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-1.086000	0.03497	-4.491000	0.02129	-0.593000	0.04642	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006871	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.015152	0.02632	2962.33	200	chr2	97113750	.	G	A	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.41;MQRankSum=-10.49;QD=14.81;ReadPosRankSum=-2.713;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,81:200:99:0|1:97113736_G_C:2976,0,4745:97113736	18	0	1	0
chr2	97113752	97113752	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A13G:p.K5E,ANKRD36:NM_198555:exon1:c.A13G:p.K5E	.	430	1070	21	1	0	23	0.0106334	.	.	.	2812123	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00165992481869	.	.	0.0004	0	0.0005	0	0	0.0006	0	0.0001	3.88e-05	6	154602	rs774044606	0.0012	0.0017	0.0012	0.0013	0.0075	0.0012	0.0011	0.0057	0.0051	0.0001	0.0018	0.0001	2.556e-05	0.0008	0.0075	0.0013	0.0022	0.0007	0.0025	0.0026	0.0026	0.0024	0.0041	0.0023	0.0022	0.0036	0.0035	0.0006	0	0.0034	0	0.0006	0.0015	0.0207	0.0041	0.0048	0.0009	1.0	0.00964	T	1.0	0.07617	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	1.41	0.33412	T	0.67	0.02263	N	0.038	0.05929	-1.0291	0.20746	T	0.030	0.12760	T	8	0.008763403	0.00198	T	0.00166	0.02728	T	0.010	0.01040	.	.	0.0762999501168	0.06990	.	.	.	.	0.503748595715	0.39350	T	0.00329	0.02698	T	-0.388821	0.02738	T	-0.796291	0.01997	T	0.0041556169877256	0.00044	T	0.228877	0.03057	T	0.06290562	0.13190	0.098388776	0.23454	0.06290562	0.13189	0.098388776	0.23454	-2.875	0.08896	T	.	.	0.076	0.44872	B	.;.;.;.	.;.;.;.	-1.401056	0.00359	0.006	0.1199548739821252	0.00196	0.01015	0.03823	N	ALL	0.014133	0.00214	N	-1.83159160776058	0.00472	0.02032915	-1.92702046445657	0.00433	0.019136	0.999831654930162	0.43792	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-4.521000	0.00254	-3.530000	0.02717	-3.502000	0.00080	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008985	0.000000	0.004076	0.000000	0.000000	0.008621	0.015244	0.026515	0.05263	4887.83	198	chr2	97113752	.	A	G	4887.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=983;ExcessHet=0.119;FS=0.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.08;MQRankSum=-1.888;QD=12.97;ReadPosRankSum=-0.562;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,80:198:99:0|1:97113736_G_C:2937,0,4706:97113736	17	0	2	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:97185336_GC_G:124,0,5819:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,13:155:99:0|1:97185336_GC_G:118,0,5903:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,13:152:99:0|1:97185336_GC_G:127,0,5797:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,13:157:99:0|1:97185336_GC_G:112,0,5967:97185336	2	0	17	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,73:159:99:0|1:97513219_T_C:2806,0,3391:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,77:164:99:0|1:97513219_T_C:2971,0,3421:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,91:186:99:0|1:97513244_G_T:3535,0,3670:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,101:197:99:0|1:97513244_G_T:3925,0,3727:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,101:197:99:0|1:97513244_G_T:3925,0,3727:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,108:207:99:0|1:97513268_C_T:4196,0,3818:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,111:211:99:0|1:97513268_C_T:4279,0,3836:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,110:209:99:0|1:97513268_C_T:4260,0,3811:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,110:210:99:0|1:97513268_C_T:4257,0,3772:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1412,0,1244	0	0	19	0
chr2	102726966	102726966	C	T	exonic	MFSD9	.	stopgain	MFSD9:NM_001322080:exon4:c.G123A:p.W41X,MFSD9:NM_001322081:exon4:c.G123A:p.W41X,MFSD9:NM_032718:exon4:c.G306A:p.W102X	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.00139776	0.0015	0.0004	0.0002	0.0001	0.0002	0.0011	0.0077	0.0059	0.0013648	211	154602	rs34960597	0.0018	0.0018	0.0016	0.0019	0.0066	0.0017	0.0017	0.0061	0.0060	0.0002	0.0002	0	0	0.0001	0.0028	0.0017	0.0015	0.0066	0.0010	0.0010	0.0011	0.0009	0.0064	0.0009	0.0008	0.0047	0.0041	0.0004	0	0.0003	0	0.0002	9.439e-05	0	0.0015	0.0009	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296788	0.82709	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.174930	0.98570	40	0.99564999475522387	0.72014	0.99462	0.96329	D	AEFDGBI	0.243780	0.36500	N	1.10430208720808	0.98212	17.69392	0.97468520419877	0.98075	17.37009	0.99999999999996	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	7.425000	0.79444	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	19.692	0.96001	797	0.45241	Sugar transporter, conserved site|Major facilitator superfamily domain|Major facilitator superfamily 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	0.004663	0.000000	0.002717	0.002941	0.000000	0.000000	0.003268	0.019231	0.02632	467.33	75	chr2	102726966	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=0.236;SOR=0.69	GT:AD:DP:GQ:PL	0/1:50,25:75:99:481,0,1178	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,109:247:99:.:.:4168,0,5432:.	6	3	9	1
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	938.33	107	chr2	110963643	.	G	A	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=821;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.549;SOR=0.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,45:107:99:1|0:110963596_TGTGTGTG_*:952,0,2004:110963596	18	0	1	0
chr2	127201203	127201203	C	T	exonic	CYP27C1	.	nonsynonymous SNV	CYP27C1:NM_001001665:exon3:c.G307A:p.A103T,CYP27C1:NM_001367501:exon3:c.G307A:p.A103T,CYP27C1:NM_001367502:exon4:c.G802A:p.A268T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0198656517909	.	.	7.414e-05	0	0	0	0	0.0001	0	6.056e-05	7.12e-05	11	154602	rs777423171	7.32e-05	7.319e-05	7.215e-05	7.426e-05	0.0003	6.181e-05	5.741e-05	7.398e-05	6.797e-05	2.987e-05	0	0	0	1.873e-05	0.0003	8.813e-05	6.623e-05	1.159e-05	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	0.252	0.17014	T	0.211	0.26631	T	0.977	0.58535	D	0.782	0.57384	P	0.000000	0.84330	D	0.000000	0.953982	0.37856	D	1.495	0.37439	L	-0.36	0.68754	T	-1.25	0.31576	N	0.624	0.63968	-0.8301	0.53295	T	0.216	0.57784	T	10	0.6363391	0.68803	D	0.019866	0.42339	T	0.382	0.69946	0.536	0.64585	0.309839678437	0.30585	0.6908360899042536	0.69023	0.888851575013	0.70127	0.481665015221	0.36287	T	0.07409	0.34855	T	-0.147019	0.28781	T	-0.257276	0.49095	T	0.528285026550293	0.33671	D	0.824018	0.48536	T	0.1674595	0.37144	0.26488397	0.52314	0.1674595	0.37143	0.26488397	0.52313	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	2.664204	0.34721	19.70	0.99644548459764448	0.76881	0.87993	0.47732	D	AEFBI	0.363563	0.45241	N	-0.218826552846375	0.32360	1.824237	-0.282271741995873	0.28681	1.601086	0.911165820276688	0.26359	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.04	2.16	0.26663	3.810000	0.55318	0.020000	0.13575	-0.285000	0.06363	0.998000	0.41325	0.013000	0.20296	0.900000	0.43643	0.1661:0.7478:0.0:0.0861	8.040	0.29677	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2822.33	202	chr2	127201203	.	C	T	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=904;ExcessHet=0;FS=4.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.835;SOR=0.982	GT:AD:DP:GQ:PL	0/1:97,105:202:99:2836,0,2355	18	0	1	0
chr2	128187557	128187557	A	G	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon40:c.A4585G:p.K1529E	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00759418280096	0.0002	0.000199681	0.0001	0	8.916e-05	0	0	0.0002	0	0	0.0001294	20	154602	rs200412844	8.277e-05	8.277e-05	7.895e-05	8.663e-05	0.0002	7.069e-05	6.618e-05	4.092e-05	3.741e-05	0	8.947e-05	0.0016	0	0	0.0002	5.216e-05	0.0002	2.319e-05	6.564e-05	6.561e-05	5.138e-05	8.055e-05	0.0001	3.513e-05	2.614e-05	2.259e-05	9.07e-06	0	0	0.0001	0.0014	0	0	0	4.41e-05	0	0	0.847	0.02760	T	0.879	0.03232	T	0.0	0.02946	B	0.0	0.01387	B	0.031596	0.25146	N	0.493324	0.993991	0.23608	N	0	0.06538	N	3.18	0.07478	T	0.01	0.06868	N	0.099	0.08088	-0.9327	0.43740	T	0.009	0.03403	T	9	0.009604424	0.00216	T	0.007594	0.20139	T	0.024	0.04979	.	.	0.410603549233	0.40672	0.1676028950349995	0.16680	0.750313055497	0.63739	0.251235663891	0.03899	T	0.014304	0.12203	T	-0.400232	0.02307	T	-0.576013	0.14902	T	0.00742033298529833	0.00086	T	0.705929	0.31637	T	0.04468123	0.07183	0.044833604	0.05896	0.04468123	0.07182	0.044833604	0.05896	-3.502	0.16459	T	.	.	0.060	0.00995	B	.	.	0.424700	0.07954	4.663	0.53521774006393885	0.04956	0.49557	0.28460	N	AEFDGBCI	0.100835	0.20265	N	-0.922104120212503	0.10326	0.4929151	-0.801137218458984	0.14468	0.7561011	0.999981111470203	0.51787	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.65	-0.698	0.10713	0.279000	0.18532	0.617000	0.20091	-0.156000	0.11795	0.985000	0.35982	0.960000	0.29291	0.743000	0.35541	0.315:0.2816:0.4034:0.0	6.787	0.22864	443	0.79878	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.050000	0.000000	0.000000	0.000000	0.02632	4162.33	329	chr2	128187557	.	A	G	4162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1051;ExcessHet=0;FS=4.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.711;SOR=0.814	GT:AD:DP:GQ:PL	0/1:158,171:329:99:4176,0,3700	18	0	1	0
chr2	131252997	131252997	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1676A:p.G559D	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0686340242042	.	.	2.015e-05	0	0	0	0.0005	0	0	0	6.5e-06	1	154602	rs201809555	2.463e-05	2.531e-05	2.996e-05	1.926e-05	0.0004	1.804e-05	1.601e-05	6.257e-05	2.582e-05	0	0	0	0	1.872e-05	0.0004	2.428e-05	4.972e-05	3.48e-05	1.32e-05	1.315e-05	1.29e-05	1.352e-05	6.556e-05	2.19e-06	8.2e-07	.	.	0	0	6.556e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.173	0.30143	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	-1.93	0.84842	D	-0.11	0.08653	N	0.081	0.05670	-0.8797	0.49786	T	0.306	0.67649	T	8	0.03947276	0.02440	T	0.068634	0.70505	D	0.157	0.40909	0.222	0.14518	0.171388866994	0.16791	0.0019335634069241809	0.00179	.	.	0.586339116096	0.50978	T	0.016866	0.13857	T	-0.29152	0.09484	T	-0.475614	0.24913	T	0.0450959080890132	0.04619	T	0.59724	0.23473	T	0.16037226	0.35973	0.19828093	0.43652	0.16037226	0.35973	0.19828093	0.43651	-7.328	0.56394	T	.	.	0.126	0.26545	B	.;.	.;.	0.864572	0.12371	8.909	0.95113844527397207	0.26204	0.00068	0.00484	N	AEFI	0.020858	0.00867	N	-1.65962233654192	0.00995	0.04314064	-1.78405808933216	0.00811	0.0362249	9.00505683457145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-1.175000	0.03211	.	.	-1.385000	0.01156	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3381.85	292	chr2	131252997	.	G	A	3381.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1341;ExcessHet=0.119;FS=1.226;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=36.1;MQRankSum=-2.366;QD=4.75;ReadPosRankSum=-0.134;SOR=0.598	GT:AD:DP:GQ:PL	0/1:174,118:292:99:2289,0,3701	18	0	1	0
chr2	134980968	134980968	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon7:c.T3434C:p.F1145S,MAP3K19:NM_001282883:exon7:c.T1169C:p.F390S,MAP3K19:NM_001018046:exon8:c.T1319C:p.F440S,MAP3K19:NM_001018047:exon8:c.T1175C:p.F392S,MAP3K19:NM_025052:exon9:c.T3773C:p.F1258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.072646300862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000347	0.45440	D	0.000000	0.998733	0.81001	D	1.355	0.33814	L	1.76	0.25996	T	-6.49	0.94647	D	0.931	0.94432	-0.9240	0.44999	T	0.143	0.46495	T	10	0.92144215	0.91497	D	0.072646	0.71584	D	0.643	0.86435	0.815	0.92992	0.608018665328	0.60488	0.8427551262469224	0.84236	0.736878551072	0.63027	0.830686748028	0.86668	D	0.023488	0.17920	T	0.228461	0.76576	D	0.0903916	0.76271	D	0.998370468616486	0.93972	D	0.952705	0.82105	D	0.86104345	0.88166	0.89707744	0.94769	0.86104345	0.88167	0.89707744	0.94769	-14.922	0.95667	D	.	.	0.983	0.92764	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.114235	0.85514	28.6	0.99862474909271814	0.94093	0.91219	0.53094	D	AEFBCI	0.890344	0.82530	D	0.713750665781323	0.80532	7.315393	0.716504619448664	0.83632	8.072922	0.938856271519112	0.27361	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.6	5.6	0.84997	7.086000	0.76553	11.261000	0.91078	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.97	0.70878	904	0.23766	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	192	chr2	134980968	.	A	G	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=830;ExcessHet=0;FS=6.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.202;SOR=1.108	GT:AD:DP:GQ:PL	0/1:100,92:192:99:2339,0,2571	18	0	1	0
chr2	140238274	140238274	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon89:c.C13438T:p.P4480S	.	464	1052	6	0	0	6	0.0028436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00399361	0.0021	0	0.0002	0.0145	0.0003	0.0006	0.0023	0.0055	0.0018952	293	154602	rs75758215	0.0011	0.0011	0.0009	0.0013	0.0176	0.0010	0.0010	0.0165	0.0161	0.0001	0.0002	0.0002	0.0176	0.0002	0.0050	0.0002	0.0022	0.0052	0.0009	0.0009	0.0008	0.0011	0.0129	0.0008	0.0008	0.0104	0.0095	0.0001	0	0.0005	0.0006	0.0129	0.0003	0	0.0003	0.0010	0.0066	0.315	0.13789	T	0.231	0.25061	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.715	0.44382	L	1.03	0.40469	T	-1.05	0.27463	N	0.701	0.70527	-0.9644	0.38330	T	0.128	0.43605	T	10	0.008606732	0.00195	T	.	.	.	0.228	0.52768	.	.	0.23524818089	0.23142	0.6792548427150938	0.67864	0.502864399541	0.48636	0.743744850159	0.73524	T	0.307231	0.67939	T	-0.293543	0.09284	T	-0.184043	0.56147	T	0.0621516181530887	0.07504	T	0.912409	0.68863	D	0.15304549	0.34711	0.2950626	0.55537	0.15304549	0.34711	0.2950626	0.55536	-5.605	0.42838	T	.	.	0.502	0.64654	A	.	.	4.028405	0.59550	24.1	0.99676912350307612	0.78977	0.99004	0.89829	D	AEFI	0.936186	0.93213	D	0.760307874649189	0.83574	8.053339	0.787978252393895	0.88946	9.77714	0.999999831305807	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	9.352000	0.96480	.	.	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.078	0.97757	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	1079.33	100	chr2	140238274	.	G	A	1079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=724;ExcessHet=0;FS=3.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.656;SOR=0.4	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1093,0,1324	18	0	1	0
chr2	140325822	140325822	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon80:c.A12280G:p.I4094V	.	433	1088	1	0	0	1	0.000459348	.	.	.	3699499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.231	0.0610505090154	.	.	5.803e-05	0	0	0	0	7.529e-05	0	0.0001	4.53e-05	7	154602	rs755528146	3.628e-05	3.625e-05	2.997e-05	4.265e-05	0.0003	2.83e-05	2.566e-05	6.099e-05	2.837e-05	2.99e-05	0	0	0	0	0.0003	4.138e-05	1.657e-05	3.479e-05	1.971e-05	1.969e-05	2.57e-05	1.344e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.719413	0.06304	N	1.216860	1	0.08975	N	-0.915	0.01320	N	-3.22	0.93352	D	0.21	0.04776	N	0.14	0.13911	-0.5151	0.68098	T	0.393	0.74677	T	10	0.04888627	0.04401	T	0.061051	0.68205	D	0.231	0.53208	0.477	0.55502	0.179529687257	0.17594	0.17225645808497847	0.17145	0.154882509621	0.17493	0.229292303324	0.01916	T	0.059396	0.31103	T	-0.23026	0.16614	T	-0.387001	0.34904	T	0.831062376499176	0.48613	D	0.680532	0.28920	T	0.024735058	0.01335	0.030595673	0.01535	0.024735058	0.01335	0.030595673	0.01535	-2.703	0.07329	T	.	.	0.054	0.00297	B	.	.	-0.456644	0.02009	0.179	0.13184186417745253	0.00252	0.02117	0.06260	N	AEFI	0.070767	0.14060	N	-1.6600403877183	0.00993	0.04306937	-1.65237675458202	0.01363	0.06158328	5.28639924591405E-4	0.07225	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-6.07	0.01976	-0.273000	0.08580	.	.	-0.186000	0.09761	0.001000	0.13787	0.000000	0.08366	0.940000	0.48062	0.0:0.2277:0.3367:0.4356	7.103	0.24529	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1601.33	127	chr2	140325822	.	T	C	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.782;DP=744;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.189;SOR=0.542	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1615,0,1470	18	0	1	0
chr2	140501848	140501848	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon55:c.A8689G:p.M2897V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0208281564685	7.7e-05	0.000199681	0.0002	0	8.831e-05	0	0	0.0004	0	0	0.0001876	29	154602	rs146626756	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	5.901e-05	5.299e-05	3.016e-05	0.0001	0.0043	0	0	0	7.04e-05	0.0004	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	8.9e-05	5.401e-05	0	0	0.0003	0.0075	0	0	0.0034	1.474e-05	0	0	0.364	0.11770	T	0.311	0.19660	T	0.48	0.36739	P	0.203	0.37000	B	0.000000	0.84330	U	0.000000	0.96292	0.38318	D	1.385	0.34509	L	-3.65	0.95179	D	-1.67	0.39887	N	0.33	0.37093	0.435	0.89617	D	0.716	0.90250	D	10	0.021428198	0.00512	T	0.020828	0.43499	T	0.421	0.73005	.	.	0.353785824208	0.34994	0.5565508081077131	0.55582	0.217784899984	0.24309	0.569637417793	0.48626	T	0.331952	0.70197	T	0.0153259	0.53748	T	-0.0154083	0.69331	D	0.0546415976180682	0.06297	T	0.737926	0.35508	T	0.35452884	0.57417	0.29448867	0.55479	0.35452884	0.57418	0.29448867	0.55478	-4.185	0.26534	T	.	.	0.102	0.18080	B	.	.	2.704924	0.35341	19.87	0.95695772544001911	0.27580	0.92817	0.56618	D	AEI	0.469389	0.51579	N	0.13125696215912	0.47926	3.011519	0.286815326425561	0.54769	3.640954	0.892902233118935	0.25894	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	2.148000	0.41859	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.412	0.83555	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1195.33	99	chr2	140501848	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.028;DP=752;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.697;SOR=0.552	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1209,0,1237	18	0	1	0
chr2	151437270	151437270	C	T	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon12:c.C1402T:p.P468S,RIF1:NM_001177663:exon13:c.C1402T:p.P468S,RIF1:NM_001177664:exon13:c.C1402T:p.P468S,RIF1:NM_018151:exon13:c.C1402T:p.P468S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00606981021827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.736e-06	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.412	0.14456	T	0.074	0.30795	B	0.014	0.26820	B	0.000794	0.41772	N	0.278541	0.997074	0.81001	D	1.87	0.49600	L	2.58	0.13434	T	-2.9	0.60827	D	0.287	0.33250	-1.0097	0.27012	T	0.018	0.07565	T	10	0.10432607	0.19227	T	0.00607	0.15875	T	0.080	0.23350	0.466	0.53729	0.292174397486	0.28832	0.3165661440825328	0.31569	0.0521512716169	0.05740	0.258996814489	0.04772	T	0.210743	0.57131	T	-0.213477	0.18892	T	-0.544422	0.17865	T	0.167132124304771	0.18383	T	0.787021	0.42899	T	0.060168862	0.12314	0.08558277	0.19771	0.060168862	0.12314	0.08558277	0.19770	-2.535	0.06025	T	.	.	0.074	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.247093	0.28697	17.88	0.50167447680552057	0.04337	0.69529	0.34224	D	AEFDBCI	0.080389	0.16251	N	-0.447367299975786	0.23828	1.282456	-0.304127512702091	0.27966	1.555608	0.450275813185682	0.20534	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.64	0.57399	1.283000	0.32843	.	.	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.0:0.7309:0.0:0.2691	5.981	0.18641	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	110	chr2	151437270	.	C	T	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=745;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-1.25;SOR=0.6	GT:AD:DP:GQ:PL	0/1:67,43:110:99:905,0,1632	18	0	1	0
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T,NEB:NM_001164507:exon174:c.G24520A:p.A8174T,NEB:NM_001164508:exon174:c.G24520A:p.A8174T,NEB:NM_001271208:exon175:c.G24625A:p.A8209T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	268544	Nemaline_myopathy_2|NEB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	2444.83	114	chr2	151494220	.	C	T	2444.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=815;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.492;SOR=0.679	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1283,0,1375	17	0	2	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:118,48:166:11:11,0,2010	8	0	9	2
chr2	158603089	158603089	C	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon4:c.C265T:p.P89S,PKP4:NM_001304969:exon4:c.C265T:p.P89S,PKP4:NM_001304971:exon4:c.C265T:p.P89S,PKP4:NM_001377218:exon4:c.C265T:p.P89S,PKP4:NM_001377219:exon4:c.C265T:p.P89S,PKP4:NM_001377222:exon4:c.C265T:p.P89S,PKP4:NM_001377223:exon4:c.C265T:p.P89S,PKP4:NM_001377224:exon4:c.C265T:p.P89S,PKP4:NM_001377225:exon4:c.C265T:p.P89S,PKP4:NM_001377226:exon4:c.C265T:p.P89S,PKP4:NM_003628:exon4:c.C265T:p.P89S,PKP4:NM_001377220:exon5:c.C265T:p.P89S,PKP4:NM_001377221:exon5:c.C265T:p.P89S	.	633	882	6	1	0	8	0.00451467	.	.	.	2470579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0435778561471	0.0004	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0056	0.0084	0.0014165	219	154602	rs141436976	0.0007	0.0008	0.0005	0.0009	0.0070	0.0007	0.0007	0.0064	0.0062	0.0001	0.0005	0.0001	0	1.904e-05	0.0049	0.0004	0.0007	0.0070	0.0006	0.0006	0.0005	0.0006	0.0084	0.0005	0.0004	0.0063	0.0056	9.642e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0084	0.078	0.33923	T	0.166	0.30828	T	0.908	0.52883	P	0.436	0.45556	B	0.000008	0.62929	N	0.112285	0.999983	0.54805	D	1.95	0.52479	M	-0.75	0.73311	T	-1.2	0.30555	N	0.475	0.58543	-0.4954	0.68815	T	0.317	0.68682	T	10	0.010946542	0.00241	T	0.043578	0.61054	D	0.169	0.43123	.	.	0.828990981994	0.82737	0.5212918508278581	0.52052	0.476211014082	0.46760	0.647814512253	0.59675	T	0.086002	0.50565	T	-0.257897	0.13147	T	-0.137819	0.60307	T	0.0388773493468761	0.03488	T	0.959304	0.84657	D	0.08772303	0.20439	0.09836137	0.23446	0.08772303	0.20439	0.09836137	0.23445	-2.855	0.08701	T	.	.	0.200	0.42332	B	.;.;.	.;.;.	4.086204	0.60819	24.3	0.99780952648240284	0.86780	0.93711	0.58973	D	AEFBI	0.547813	0.56136	D	0.439731599507377	0.63623	4.599635	0.514351411168226	0.68954	5.291984	0.999999822605033	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	3.056000	0.49616	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.415	0.74680	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	0.001010	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	293.33	48	chr2	158603089	.	C	T	293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=655;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-1.271;SOR=1.022	GT:AD:DP:GQ:PL	0/1:34,14:48:99:307,0,831	18	0	1	0
chr2	158625352	158625352	G	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon7:c.G1078T:p.D360Y,PKP4:NM_001304969:exon7:c.G1078T:p.D360Y,PKP4:NM_001304970:exon7:c.G52T:p.D18Y,PKP4:NM_001304971:exon7:c.G1078T:p.D360Y,PKP4:NM_001377218:exon7:c.G1078T:p.D360Y,PKP4:NM_001377219:exon7:c.G1078T:p.D360Y,PKP4:NM_001377222:exon7:c.G1072T:p.D358Y,PKP4:NM_001377223:exon7:c.G1072T:p.D358Y,PKP4:NM_001377224:exon7:c.G1072T:p.D358Y,PKP4:NM_001377225:exon7:c.G1078T:p.D360Y,PKP4:NM_001377226:exon7:c.G1078T:p.D360Y,PKP4:NM_003628:exon7:c.G1078T:p.D360Y,PKP4:NM_001377220:exon8:c.G1078T:p.D360Y,PKP4:NM_001377221:exon8:c.G1078T:p.D360Y	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0616727035755	.	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0055	0.0085	0.0013907	215	154602	rs147567711	0.0010	0.0010	0.0007	0.0013	0.0086	0.0010	0.0010	0.0080	0.0078	0.0002	0.0007	0.0002	0	1.872e-05	0.0055	0.0006	0.0009	0.0086	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	9.624e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0085	0.033	0.46910	D	0.576	0.15506	T	0.975	0.59353	D	0.814	0.58796	P	0.003865	0.34390	N	0.327328	0.999975	0.53665	D	1.7	0.43825	L	-0.83	0.74159	T	-1.66	0.39692	N	0.804	0.80572	-0.1334	0.79322	T	0.457	0.78854	T	10	0.015235871	0.00320	T	0.061673	0.68408	D	0.384	0.70112	.	.	0.824951134962	0.82329	0.5963781270473225	0.59567	0.595986134547	0.54857	0.654217720032	0.60585	T	0.071874	0.44089	T	-0.1437	0.29302	T	0.0282004	0.72161	D	0.0424957916180826	0.04145	T	0.958004	0.84234	D	0.18200856	0.39398	0.1365738	0.32668	0.18200856	0.39398	0.1365738	0.32667	-2.286	0.05410	T	.	.	0.502	0.64763	A	.;.;.	.;.;.	4.888369	0.80238	27.3	0.99425511164952263	0.63984	0.97369	0.74314	D	AEFDBI	0.787538	0.71729	D	0.56631309840315	0.71080	5.597006	0.585167556103316	0.73877	6.042719	0.998662664791023	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	4.8	0.61157	6.840000	0.75163	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0684:0.0:0.9316:0.0	15.06	0.71611	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2717.33	171	chr2	158625352	.	G	T	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=799;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.03;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,73:171:99:0|1:158625352_G_T:2731,0,3881:158625352	18	0	1	0
chr2	158625353	158625353	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon7:c.A1079G:p.D360G,PKP4:NM_001304969:exon7:c.A1079G:p.D360G,PKP4:NM_001304970:exon7:c.A53G:p.D18G,PKP4:NM_001304971:exon7:c.A1079G:p.D360G,PKP4:NM_001377218:exon7:c.A1079G:p.D360G,PKP4:NM_001377219:exon7:c.A1079G:p.D360G,PKP4:NM_001377222:exon7:c.A1073G:p.D358G,PKP4:NM_001377223:exon7:c.A1073G:p.D358G,PKP4:NM_001377224:exon7:c.A1073G:p.D358G,PKP4:NM_001377225:exon7:c.A1079G:p.D360G,PKP4:NM_001377226:exon7:c.A1079G:p.D360G,PKP4:NM_003628:exon7:c.A1079G:p.D360G,PKP4:NM_001377220:exon8:c.A1079G:p.D360G,PKP4:NM_001377221:exon8:c.A1079G:p.D360G	.	433	1072	15	2	0	19	0.0087841	.	.	.	2470486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.0248247340476	.	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0055	0.0085	0.0013907	215	154602	rs147809285	0.0010	0.0010	0.0007	0.0013	0.0086	0.0010	0.0010	0.0080	0.0078	0.0002	0.0007	0.0002	0	1.872e-05	0.0055	0.0006	0.0009	0.0086	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	9.621e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0085	0.124	0.33091	T	0.563	0.09863	T	0.274	0.36905	B	0.173	0.35463	B	0.003865	0.34390	N	0.327328	0.999985	0.54805	D	1.7	0.43825	L	-0.81	0.73949	T	-0.78	0.21644	N	0.644	0.71055	-0.5475	0.66881	T	0.288	0.65958	T	10	0.008636117	0.00196	T	0.024825	0.47815	T	0.291	0.61040	.	.	0.683250482097	0.68055	0.510190951091813	0.50941	0.278459395054	0.30327	0.606106162071	0.53767	T	0.054141	0.38193	T	-0.186502	0.22773	T	-0.033282	0.68150	D	0.0764412397918313	0.09526	T	0.952705	0.81989	D	0.14982837	0.34139	0.15118317	0.35624	0.14982837	0.34139	0.15118317	0.35623	-1.787	0.02739	T	.	.	0.270	0.51437	B	.;.;.	.;.;.	3.982574	0.58557	24.0	0.98903222936065971	0.48235	0.98957	0.89158	D	AEFDBI	0.911614	0.87112	D	0.29493304526921	0.55891	3.753	0.442955629743591	0.64266	4.677847	0.999999968098423	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	8.377000	0.90032	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.215	0.82026	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2717.33	171	chr2	158625353	.	A	G	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=799;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.151;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,73:171:99:0|1:158625352_G_T:2731,0,3881:158625352	18	0	1	0
chr2	164694379	164694379	C	T	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.G3013A:p.E1005K,COBLL1:NM_001278460:exon12:c.G3151A:p.E1051K,COBLL1:NM_001365670:exon12:c.G3148A:p.E1050K,COBLL1:NM_001365672:exon12:c.G3013A:p.E1005K,COBLL1:NM_001365673:exon12:c.G3013A:p.E1005K,COBLL1:NM_014900:exon12:c.G3127A:p.E1043K,COBLL1:NM_001365671:exon13:c.G3190A:p.E1064K,COBLL1:NM_001365674:exon13:c.G3052A:p.E1018K,COBLL1:NM_001365675:exon13:c.G3052A:p.E1018K,COBLL1:NM_001278458:exon15:c.G3328A:p.E1110K	.	424	1095	3	0	0	3	0.00136799	.	.	.	3952086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00921176256957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415298824	1.573e-05	1.573e-05	8.168e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	4.497e-06	0	0.0002	3.944e-05	3.94e-05	2.57e-05	5.383e-05	0.0002	1.716e-05	1.13e-05	2.262e-05	9.08e-06	4.828e-05	0	0.0001	0	0	0	0	0	0.0005	0.0002	0.2	0.20835	T	0.585	0.09175	T	0.006	0.13644	B	0.001	0.04355	B	0.338579	0.04174	N	1.368040	1	0.08975	N	2.28	0.64929	M	.	.	.	-1.58	0.40660	N	0.08	0.10340	-1.0285	0.20940	T	0.051	0.21883	T	9	0.05851221	0.06890	T	0.009212	0.24201	T	0.061	0.17616	0.209	0.12639	0.440915056915	0.43709	0.1773925857246207	0.17658	0.0549889752522	0.06090	0.369859278202	0.20812	T	0.008391	0.23413	T	-0.163662	0.26199	T	-0.472865	0.25209	T	0.0620419191418246	0.07487	T	0.717028	0.32946	T	0.03399905	0.03731	0.04341053	0.05394	0.03399905	0.03731	0.04341053	0.05393	-4.426	0.29907	T	.	.	0.086	0.10835	B	.;.;.;.	.;.;.;.	0.687443	0.10558	7.269	0.88692411782219993	0.18179	0.02824	0.07562	N	AEFDBHCI	0.093968	0.19006	N	-1.01666722684232	0.08258	0.3865485	-1.02346249041972	0.09269	0.4602441	0.999999989026147	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	3.08	0.34576	0.638000	0.24363	1.789000	0.28782	-0.172000	0.11096	0.001000	0.13787	0.029000	0.21193	0.002000	0.04165	0.1012:0.5751:0.1688:0.1549	4.472	0.11138	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1135.33	126	chr2	164694379	.	C	T	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=755;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.044;SOR=0.663	GT:AD:DP:GQ:PL	0/1:77,49:126:99:1149,0,1917	18	0	1	0
chr2	165140852	165140852	G	C	exonic	SCN3A	.	nonsynonymous SNV	SCN3A:NM_001081676:exon13:c.C1818G:p.S606R,SCN3A:NM_001081677:exon13:c.C1818G:p.S606R,SCN3A:NM_006922:exon13:c.C1818G:p.S606R	.	147	1374	1	0	0	1	0.000363769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.145142394069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.082	0.41573	T	0.409	0.65571	B	0.552	0.56974	P	0.000000	0.84330	D	0.000000	0.999605	0.47795	D	3.215	0.89331	M	-2.77	0.90904	D	-4.22	0.75854	D	0.69	0.69562	0.884	0.95455	D	0.861	0.95363	D	10	0.57252944	0.65399	D	0.145142	0.82735	D	0.617	0.85091	0.209	0.12639	0.738178334999	0.73583	0.819589037628608	0.81915	1.29869024389	0.82957	0.648658752441	0.59796	T	0.823602	0.95713	D	0.18556	0.72555	D	0.0287672	0.72198	D	0.996535658836365	0.89544	D	0.956938	0.83911	D	0.8801021	0.89675	0.87418103	0.93156	0.8801021	0.89676	0.87418103	0.93156	-9.907	0.73443	D	.	.	0.831	0.82022	P	.;.;.;.;.	.;.;.;.;.	4.696758	0.75312	26.3	0.99658631975511058	0.77757	0.96174	0.67873	D	AEFGI	0.809370	0.73289	D	0.694830970797248	0.79294	7.047341	0.727169084272099	0.84441	8.292876	0.99803698553338	0.36340	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	5.391000	0.66015	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.659	0.99629	848	0.35897	Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3372.33	308	chr2	165140852	.	G	C	3372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.803;DP=945;ExcessHet=0;FS=3.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.904;SOR=0.539	GT:AD:DP:GQ:PL	0/1:169,139:308:99:3386,0,4585	18	0	1	0
chr2	166462403	166462403	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon10:c.G1069A:p.V357I	.	434	1085	3	0	0	3	0.00138058	.	.	.	2105766	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.285	0.0593794178862	0.0009	0.000199681	0.0011	0.0005	0.0011	0	0.0003	0.0019	0.0025	0.0002	0.0005821	90	154602	rs200494318	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	9.027e-05	0.0005	3.895e-05	0	1.907e-05	0.0005	0.0013	0.0012	9.664e-05	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0002	0	0.0003	0	0	0	0	0.0011	0.0005	0	0.215	0.50676	T	0.016	0.60972	D	0.09	0.25173	B	0.089	0.29769	B	0.153306	0.02980	N	1.801380	1	0.08975	N	0.895	0.22405	L	-4.23	0.97006	D	-0.07	0.08033	N	0.116	0.10483	0.047	0.83182	D	0.765	0.92002	D	10	0.036837906	0.02003	T	0.059379	0.67645	D	0.285	0.60338	.	.	0.702360448851	0.69978	0.05596179342164845	0.05537	0.0366361011954	0.03876	0.249093979597	0.03673	T	0.480257	0.81840	T	-0.295032	0.09137	T	-0.203046	0.54357	T	0.0133890834141368	0.00242	T	0.941706	0.78221	D	0.06327235	0.13306	0.039921265	0.04197	0.06327235	0.13306	0.039921265	0.04196	-3.861	0.21719	T	.	.	0.088	0.11893	B	.;.;.;.;.;.	.;.;.;.;.;.	2.124899	0.27051	17.33	0.63091230844875557	0.07132	0.02666	0.07285	N	AEFI	0.054371	0.09879	N	-0.911867355649387	0.10563	0.5053931	-0.893616840530456	0.12244	0.6287231	4.07208132149699E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.14	-0.334	0.12038	0.285000	0.18642	0.273000	0.16680	-0.242000	0.07441	0.005000	0.17040	0.009000	0.19889	0.912000	0.44740	0.2031:0.2595:0.1843:0.3531	0.274	0.00219	564	0.70960	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	750.33	69	chr2	166462403	.	C	T	750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.973;DP=691;ExcessHet=0;FS=0.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.456;SOR=0.545	GT:AD:DP:GQ:PL	0/1:35,34:69:99:764,0,844	18	0	1	0
chr2	167251237	167251237	A	G	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.A9179G:p.H3060R,XIRP2:NM_152381:exon9:c.A9845G:p.H3282R	.	432	1087	3	0	0	3	0.00137804	.	.	.	777158	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.012	0.00239804226469	0.0007	0.000399361	0.0009	0.0003	0.0011	0	0.0002	0.0013	0.0011	0.0002	0.0008797	136	154602	rs190407445	0.0013	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0013	0.0004	0.0009	0.0048	0	5.623e-05	0.0009	0.0014	0.0018	0.0002	0.0008	0.0008	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0005	0	0.0005	0.0046	0	0	0.0068	0.0012	0	0.0002	0.213	0.19430	T	0.462	0.12526	T	0.0	0.02946	B	0.0	0.01387	B	0.132073	0.02816	N	1.577760	1	0.08975	N	0.315	0.10303	N	4.5	0.02032	T	-0.06	0.07882	N	0.017	0.00226	-0.9354	0.43333	T	0.004	0.01330	T	10	0.0038044453	0.00071	T	0.002398	0.04701	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.13998587036779928	0.13921	0.0206115458999	0.02030	0.196560412645	0.00364	T	0.010909	0.09797	T	-0.76173	0.00015	T	-0.872807	0.00716	T	0.00918257481234837	0.00116	T	0.391261	0.09725	T	0.017636936	0.00289	0.033234306	0.02184	0.017636936	0.00289	0.033234306	0.02184	-2.574	0.06308	T	.	.	0.064	0.02012	B	.;.;.;.	.;.;.;.	-2.146358	0.00073	0.001	0.10214799386380036	0.00123	0.00127	0.00790	N	AEFBI	0.036174	0.04777	N	-2.24821254456091	0.00060	0.002559707	-2.2852922434339	0.00072	0.003146624	0.999580889778123	0.40607	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	-9.31	0.00548	-0.296000	0.08323	-1.802000	0.04699	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4647:0.2969:0.2384:0.0	9.249	0.36703	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2168.33	200	chr2	167251237	.	A	G	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.052;DP=1323;ExcessHet=0;FS=3.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.714;SOR=0.955	GT:AD:DP:GQ:PL	0/1:111,89:200:99:2182,0,2930	18	0	1	0
chr2	176123231	176123231	G	T	exonic	HOXD9	.	nonsynonymous SNV	HOXD9:NM_014213:exon1:c.G463T:p.G155W	.	403	1108	7	0	4	11	0.0031489	.	.	.	3198994	HOXD9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.476	0.955930260268	.	0.000798722	0.0043	0.0039	0	0	0	0.0070	0	0.0028	0.0007503	116	154602	rs191379716	0.0023	0.0021	0.0023	0.0022	0.0029	0.0022	0.0022	0.0024	0.0024	0.0002	0.0029	0.0007	0	0.0016	0.0006	0.0025	0.0019	0.0014	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0023	0.0022	0.0002	0.0022	0.0010	0.0009	0	0.0009	0	0.0027	0	0.0011	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.97	0.72226	D	0.000000	0.00162	N	7739.210000	0.986206	0.24639	N	2.235	0.63160	M	-3.35	0.94022	D	-4.44	0.77637	D	0.613	0.62950	0.027	0.82797	D	0.809	0.93568	D	10	0.017174155	0.00365	T	0.95593	0.99704	D	0.476	0.76816	.	.	0.972141704607	0.97183	0.6372730592047343	0.63661	1.55718316775	0.87994	0.928060889244	0.98874	D	0.514646	0.82909	D	-0.153589	0.27752	T	0.00449808	0.70627	D	0.0609635424345177	0.07319	T	0.80282	0.44919	T	0.6591159	0.75852	0.7983209	0.88164	0.6591159	0.75853	0.7983209	0.88165	-6.283	0.48587	T	.	.	0.452	0.62316	A	.	.	4.055630	0.60153	24.2	0.99439367229066966	0.64670	0.87399	0.46927	D	AEFDBCI	0.535938	0.55436	D	0.346017366362378	0.58530	4.025736	0.272653709162637	0.53947	3.561496	0.998210038955848	0.36589	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.52	2.6	0.30173	3.484000	0.52965	8.929000	0.78407	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8277:0.1723	12.187	0.53554	717	0.55835	Hox9, N-terminal activation 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	.	.	.	.	.	.	.	.	0.02632	1682.85	87	chr2	176123231	.	G	T	1682.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=864;ExcessHet=0.119;FS=5.438;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.89;SOR=0.737	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1204,0,728	18	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5404.79	227	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	5404.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.32;DP=1612;ExcessHet=0.119;FS=0.605;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-4.573;SOR=0.589	GT:AD:DP:GQ:PL	0/1:171,56:227:99:1815,0,6995	17	0	2	0
chr2	179143632	179143632	T	C	exonic	SESTD1	.	nonsynonymous SNV	SESTD1:NM_178123:exon9:c.A809G:p.K270R	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0291635053176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.07969	T	0.359	0.17014	T	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.39	0.33842	T	-0.32	0.12283	N	0.713	0.71587	-0.9917	0.32167	T	0.118	0.41516	T	9	0.49204352	0.61049	T	0.029164	0.51725	D	0.258	0.56959	0.232	0.16005	0.387796008065	0.38391	0.2798859471908921	0.27901	0.864032496067	0.69109	0.831209421158	0.86747	D	0.014327	0.12216	T	0.0178592	0.54092	T	-0.212123	0.53493	T	0.644984722137451	0.38248	D	0.90061	0.65471	D	0.115773536	0.27314	0.17988692	0.40752	0.115773536	0.27314	0.17988692	0.40751	-2.391	0.05078	T	.	.	0.094	0.14477	B	.	.	3.551061	0.49917	22.9	0.99871214182382562	0.94902	0.97905	0.78016	D	AEFBI	0.899454	0.84386	D	0.562200111451444	0.70828	5.559224	0.646704126960891	0.78366	6.861707	0.999999510568725	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.654000	0.82708	7.912000	0.74078	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.641	0.84955	277	0.89083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	97	chr2	179143632	.	T	C	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=719;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.175;SOR=1.007	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1006,0,1382	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,11:38:40:.:.:40,0,228:.	6	0	11	2
chr2	187484906	187484906	G	T	exonic	TFPI	.	nonsynonymous SNV	TFPI:NM_001032281:exon5:c.C440A:p.T147K,TFPI:NM_006287:exon5:c.C440A:p.T147K,TFPI:NM_001318941:exon6:c.C440A:p.T147K,TFPI:NM_001329240:exon6:c.C440A:p.T147K,TFPI:NM_001329241:exon6:c.C440A:p.T147K,TFPI:NM_001329239:exon7:c.C440A:p.T147K	.	431	1077	13	1	0	15	0.00691563	.	.	.	697209	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0007	0.00339457	0.0023	9.682e-05	0.0006	0	0	0.0012	0.0022	0.0115	0.0021798	337	154602	rs145362964	0.0017	0.0018	0.0014	0.0021	0.0107	0.0017	0.0016	0.0101	0.0099	0.0001	0.0009	0.0026	2.615e-05	3.759e-05	0.0035	0.0013	0.0016	0.0107	0.0011	0.0011	0.0010	0.0013	0.0133	0.0010	0.0010	0.0107	0.0097	0.0002	0	0.0007	0.0020	0.0006	0	0	0.0011	0.0019	0.0133	0.004	0.68238	D	0.003	0.76473	D	0.004	0.26920	B	0.058	0.35540	B	0.095127	0.20138	N	0.522228	0.999999	0.08975	N	1.115	0.28702	L	0.28	0.59037	T	-2.83	0.59710	D	0.245	0.34659	-0.9439	0.41992	T	0.169	0.50842	T	10	0.006154537	0.00139	T	.	.	.	0.194	0.47447	.	.	0.702643714836	0.70006	0.7596616269546297	0.75914	0.705682767766	0.61405	0.460870265961	0.33430	T	0.354962	0.72204	T	-0.350493	0.04696	T	-0.268273	0.47994	T	0.0690983527222691	0.08525	T	0.822218	0.48193	T	0.29618052	0.52560	0.29761112	0.55794	0.29618052	0.52560	0.29761112	0.55793	-6.134	0.47387	T	.	.	0.321	0.58697	B	.;.;.;.;.	.;.;.;.;.	4.020530	0.59374	24.1	0.9635561730039498	0.29533	0.95093	0.63412	D	AEFBI	0.945176	0.95317	D	-0.184955865533176	0.33760	1.919048	-0.077110583661863	0.36338	2.113496	0.999999973600661	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.570000	0.81721	11.288000	0.91948	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.268000	0.23719	0.0:0.0:1.0:0.0	17.368	0.87258	563	0.71062	Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain;Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain;Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz 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	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.02632	852.33	83	chr2	187484906	.	G	T	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=705;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.293;SOR=0.862	GT:AD:DP:GQ:PL	0/1:46,37:83:99:866,0,1076	18	0	1	0
chr2	202035234	202035234	G	A	exonic	FZD7	.	nonsynonymous SNV	FZD7:NM_003507:exon1:c.G587A:p.G196E	.	385	1114	22	1	0	24	0.0106572	.	.	.	697252	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.241	.	0.0052	0.00379393	0.0080	0.0015	0.0051	0.0012	0.0029	0.0112	0.0103	0.0069	0.0077877	1204	154602	rs34908164	0.0100	0.0099	0.0100	0.0099	0.0115	0.0098	0.0098	0.0113	0.0112	0.0018	0.0046	0.0025	0.0006	0.0022	0.0056	0.0115	0.0086	0.0078	0.0069	0.0070	0.0074	0.0065	0.0120	0.0066	0.0065	0.0113	0.0111	0.0019	0	0.0052	0.0023	0.0010	0.0012	0.0034	0.0120	0.0109	0.0064	0.152	0.24468	T	0.643	0.06903	T	0.212	0.30008	B	0.05	0.25278	B	0.410093	0.13008	N	0.708385	1	0.08975	N	0.975	0.24501	L	-0.98	0.75789	T	-1.35	0.33598	N	0.291	0.32921	-0.9969	0.30783	T	0.109	0.39344	T	10	0.0064643323	0.00146	T	.	.	.	0.241	0.54641	.	.	0.546911003084	0.54346	0.39633418643055696	0.39548	1.20464397403	0.80653	0.636838555336	0.58116	T	0.325165	0.69591	T	-0.399875	0.02319	T	-0.334845	0.40926	T	0.00461873763491411	0.00049	T	0.59804	0.22252	T	0.11452147	0.27034	0.19855107	0.43694	0.11452147	0.27034	0.19855107	0.43693	-3.449	0.15725	T	.	.	0.099	0.16843	B	.	.	3.053620	0.40982	21.3	0.74618492157724425	0.10763	0.26292	0.22951	N	AEFDBHCI	0.111875	0.22134	N	-0.598175887330292	0.19000	0.9909846	-0.463324773165451	0.23171	1.262298	0.999999797962117	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	4.65	3.73	0.41982	2.304000	0.43315	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1489:0.6981:0.153	9.803	0.39940	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	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	0.005556	0.000000	0.005435	0.002924	0.000000	0.000000	0.012422	0.007576	0.02632	2379.33	174	chr2	202035234	.	G	A	2379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.531;SOR=0.657	GT:AD:DP:GQ:PL	0/1:89,85:174:99:2393,0,2224	18	0	1	0
chr2	218394727	218394727	C	T	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon14:c.C1484T:p.A495V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00607828459304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.586	0.08332	T	0.012	0.16265	B	0.009	0.14300	B	0.010127	0.30054	N	0.277119	0.999037	0.21690	N	1.53	0.38800	L	1.93	0.22881	T	-0.46	0.14978	N	0.217	0.24260	-1.0540	0.13305	T	0.047	0.20275	T	10	0.15218222	0.28750	T	0.006078	0.15905	T	0.042	0.11227	0.297	0.26202	0.541920164434	0.53844	0.20275836299086267	0.20192	0.124157417918	0.13980	0.410348266363	0.26505	T	0.167571	0.51425	T	-0.24678	0.14496	T	-0.592259	0.13471	T	0.474195420742035	0.31685	T	0.782222	0.41780	T	0.10893762	0.25756	0.0866153	0.20078	0.10893762	0.25756	0.0866153	0.20077	-4.196	0.26694	T	.	.	0.071	0.03849	B	.	.	2.579183	0.33439	19.34	0.97363287827631384	0.33583	0.27801	0.23378	N	AEFDBCI	0.187744	0.31504	N	-0.317006627363927	0.28502	1.572619	-0.184291381509033	0.32112	1.823812	0.999991323017868	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.74	3.82	0.43153	0.542000	0.22930	3.271000	0.37160	0.524000	0.24156	0.655000	0.28216	1.000000	0.68203	0.924000	0.46004	0.1219:0.648:0.2301:0.0	9.849	0.40212	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5232.81	167	chr2	218394727	.	C	T	5232.81	.	AC=2;AF=0.053;AN=38;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.33;SOR=0.729	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5260,500,0	18	1	0	0
chr2	233637204	233637204	C	G	exonic	UGT1A10	.	nonsynonymous SNV	UGT1A10:NM_019075:exon1:c.C682G:p.L228V	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00828246481989	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs374057045	2.258e-05	2.257e-05	2.178e-05	2.338e-05	4.473e-05	1.61e-05	1.417e-05	1.83e-05	1.582e-05	0	4.473e-05	0	0	0	0	2.608e-05	1.656e-05	1.159e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.129	0.26852	T	0.237	0.24621	T	0.004	0.12183	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	0.26	0.59314	T	0.16	0.17210	N	0.062	0.03392	-0.9638	0.38448	T	0.108	0.39099	T	9	0.06825337	0.09628	T	0.008282	0.21928	T	0.044	0.11924	.	.	0.200317383148	0.19677	0.13049520392051436	0.12974	0.0280664298658	0.02883	.	.	.	0.140013	0.47433	T	-0.377414	0.03235	T	-0.604058	0.12472	T	0.06652839159778	0.08155	T	0.433757	0.11839	T	0.030097704	0.02615	0.033320863	0.02208	0.030097704	0.02614	0.033320863	0.02208	-2.641	0.08788	T	0.12522451910548674	0.12418	0.076	0.12276	B	.;.	.;.	-1.888201	0.00130	0.002	0.70748899451034575	0.09398	0.00341	0.01769	N	AEFGBI	0.041367	0.06280	N	-1.49085543221414	0.01914	0.08400215	-1.64280431701303	0.01414	0.06390295	0.0115105836354879	0.12195	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-7.04	0.01423	-0.920000	0.04121	-20.000000	0.00162	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1881:0.2363:0.4405:0.1351	3.133	0.06044	471	0.78036	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	9049.81	302	chr2	233637204	.	C	G	9049.81	.	AC=2;AF=0.053;AN=38;DP=1107;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.97;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,302:302:99:9077,905,0	18	1	0	0
chr2	235930831	235930831	G	A	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_001037131:exon12:c.G1391A:p.R464Q	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0578050787965	7.7e-05	0.00119808	0.0008	0	0.0003	0	0	6.004e-05	0	0.0057	0.000705	109	154602	rs377633728	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0.0002	6.708e-05	0.0003	0	0	0.0016	4.227e-05	0.0005	0.0050	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	9.635e-05	0	0.0001	0.0006	0.0002	0	0.0034	0	0	0.0048	0.57	0.06184	T	0.552	0.09361	T	0.943	0.53072	P	0.494	0.47478	P	0.725813	0.09896	N	0.837651	1	0.81001	D	1.095	0.27400	L	-0.85	0.74371	T	-0.81	0.22294	N	0.411	0.45142	-0.5410	0.67125	T	0.371	0.73001	T	10	0.0064775646	0.00147	T	0.057805	0.67095	D	0.328	0.65026	.	.	0.812174102129	0.81040	0.5986446052123972	0.59795	0.485800927683	0.47462	0.450743794441	0.32045	T	0.04426	0.26761	T	-0.271713	0.11566	T	-0.161844	0.58186	T	0.0360180071893805	0.02985	T	0.778722	0.41238	T	0.06558059	0.14029	0.07037647	0.14946	0.055631086	0.10837	0.071023755	0.15158	-5.074	0.37632	T	.	.	0.094	0.14523	B	.;.	.;.	4.815136	0.78372	26.9	0.99920318893742788	0.98721	0.97903	0.78000	D	AEFDBI	0.871638	0.79314	D	0.479621984025414	0.65900	4.881172	0.54970692294974	0.71377	5.645595	0.999999999998761	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.510000	0.73640	7.438000	0.58849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.067	0.93098	976	0.04745	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2883.33	263	chr2	235930831	.	G	A	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.31;DP=947;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.027;SOR=0.794	GT:AD:DP:GQ:PL	0/1:146,117:263:99:2897,0,3332	18	0	1	0
chr2	236123935	236123935	C	T	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_014914:exon17:c.C2228T:p.T743M,AGAP1:NM_001037131:exon18:c.C2387T:p.T796M	.	425	1079	18	0	0	18	0.00827206	.	.	.	2877019	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.157	0.0501328786028	0.0002	0.00119808	0.0012	0	8.657e-05	0.0001	0	0.0002	0.0011	0.0080	0.0009961	154	154602	rs201123570	0.0006	0.0006	0.0003	0.0008	0.0081	0.0005	0.0005	0.0076	0.0074	8.969e-05	0.0001	0.0004	0	0	0.0023	5.396e-05	0.0005	0.0081	0.0004	0.0004	0.0001	0.0007	0.0077	0.0003	0.0003	0.0057	0.0050	0	0	0.0008	0	0.0004	0	0.0136	2.94e-05	0	0.0077	0.324	0.13392	T	0.242	0.25670	T	0.003	0.12996	B	0.001	0.11217	B	0.000000	0.84330	N	0.043574	0.999987	0.18198	N	0.905	0.23240	L	1.36	0.34452	T	1.24	0.01121	N	0.187	0.24135	-1.0359	0.18575	T	0.048	0.20513	T	10	0.01215592	0.00262	T	0.050133	0.64112	D	0.157	0.40909	.	.	0.253981072376	0.25009	0.2979052493888897	0.29703	0.425487217938	0.42952	0.678285360336	0.64022	T	0.031085	0.21878	T	-0.455402	0.01049	T	-0.421943	0.30852	T	0.0112411783867895	0.00165	T	0.522748	0.17058	T	0.0811227	0.18623	0.07703519	0.17122	0.09174097	0.21503	0.083002545	0.18989	0.228	0.00376	T	.	.	0.043	0.00061	B	.;.;.;.;.	.;.;.;.;.	1.614611	0.20630	14.84	0.49773766417784437	0.04268	0.12278	0.17170	N	AEFDBI	0.044386	0.07134	N	-0.935920142972459	0.10011	0.476409	-0.827086641246968	0.13840	0.7200992	0.218584330572427	0.18328	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.3	1.81	0.24139	2.680000	0.46583	1.133000	0.24342	-0.749000	0.03603	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.155:0.1409:0.7041	5.792	0.17629	988	0.01987	.;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|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	1	0	0.002132	0.010417	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.02632	3062.33	191	chr2	236123935	.	C	T	3062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=1393;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=2.18;SOR=0.948	GT:AD:DP:GQ:PL	0/1:81,110:191:99:3076,0,2011	18	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S,COL6A3:NM_057166:exon3:c.C254G:p.T85S,COL6A3:NM_057165:exon4:c.C857G:p.T286S,COL6A3:NM_057167:exon4:c.C857G:p.T286S,COL6A3:NM_004369:exon5:c.C1475G:p.T492S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100808	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;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;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.02632	2260.33	149	chr2	237381337	.	G	C	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=779;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-1.196;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,63:149:99:0|1:237381337_G_C:2274,0,3331:237381337	18	0	1	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H,COL6A3:NM_057166:exon3:c.G250C:p.D84H,COL6A3:NM_057165:exon4:c.G853C:p.D285H,COL6A3:NM_057167:exon4:c.G853C:p.D285H,COL6A3:NM_004369:exon5:c.G1471C:p.D491H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100807	not_provided|not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;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;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.02632	2254.33	147	chr2	237381341	.	C	G	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.266;DP=777;ExcessHet=0;FS=2.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-1.694;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,63:147:99:0|1:237381337_G_C:2268,0,3288:237381337	18	0	1	0
chr2	240742970	240742970	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379637:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379639:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379640:exon32:c.C3293T:p.S1098L,KIF1A:NM_001379641:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379648:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379649:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379650:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379651:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379653:exon32:c.C3296T:p.S1099L,KIF1A:NM_004321:exon32:c.C3296T:p.S1099L,KIF1A:NM_001320705:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330289:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330290:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379632:exon33:c.C3548T:p.S1183L,KIF1A:NM_001379633:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379634:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379635:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379638:exon33:c.C3323T:p.S1108L,KIF1A:NM_001379642:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379645:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379646:exon33:c.C3398T:p.S1133L,KIF1A:NM_001244008:exon34:c.C3599T:p.S1200L,KIF1A:NM_001379631:exon34:c.C3674T:p.S1225L	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	450897	not_provided|Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9	MedGen:C3661900|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0588993988299	.	.	9.144e-05	0.0003	0	0	0	0.0001	0	8.012e-05	3.84e-05	1	26028	rs763750448	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.979e-05	6.735e-05	0	2.523e-05	1.889e-05	0	0.0002	0.0002	5.834e-05	7.228e-05	7.223e-05	7.707e-05	6.726e-05	0.0001	3.971e-05	3.127e-05	6.803e-05	5.087e-05	4.827e-05	0	0	0	0	0	0	0.0001	0	0	0.356	0.21968	T	0.147	0.34241	T	0.386	0.35064	B	0.029	0.21540	B	0.016190	0.28043	U	0.336375	0.999269	0.46490	D	1.555	0.39373	L	-0.97	0.75670	T	-3.01	0.62518	D	0.554	0.60241	-0.4509	0.70370	T	0.280	0.65139	T	10	0.14887118	0.28184	T	0.058899	0.67480	D	0.206	0.49396	.	.	0.549535270781	0.54609	0.3348749960511559	0.33400	0.38830470761	0.40095	0.683194100857	0.64728	T	0.317179	0.68866	T	-0.183853	0.23165	T	-0.222433	0.52503	T	0.0407920870069119	0.03834	T	0.974203	0.90777	D	0.11106671	0.26247	0.12556934	0.30253	0.11106671	0.26247	0.12556934	0.30252	-12.136	0.85507	D	.	.	0.115	0.44122	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.565633	0.71987	25.8	0.99816065102214602	0.89973	0.80256	0.39942	D	AEFDBCI	0.427374	0.49135	N	0.00426122267347775	0.42049	2.526288	0.120965630794193	0.45622	2.822173	0.999273439629424	0.38974	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.604944	0.38103	0	.	.	4.6	4.6	0.56512	3.457000	0.52771	8.410000	0.77125	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.782	0.88436	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1073.33	103	chr2	240742970	.	G	A	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.058;DP=713;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.106;SOR=0.934	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1087,0,1270	18	0	1	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N	Hyperoxaluria, primary, type 1, Autosomal recessive	4	1474	42	2	0	46	0.0153641	.	.	YES	200420	Primary_hyperoxaluria,_type_I|not_provided|not_specified	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	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	1	0	0.012085	0.000000	0.008174	0.014620	0.000000	0.008621	0.018293	0.018939	0.05263	3115.81	97	chr2	240868891	.	C	A	3115.81	.	AC=2;AF=0.053;AN=38;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.12;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3143,291,0	18	1	0	0
chr2	241484296	241484296	C	T	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_014808:exon21:c.C2386T:p.R796W	.	420	1097	5	0	0	5	0.00227376	.	.	.	3253096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.718	0.209276204664	.	0.000199681	9.891e-05	9.619e-05	0.0003	0	0	4.497e-05	0	0.0003	8.41e-05	13	154602	rs200700734	6.157e-05	6.225e-05	5.173e-05	7.151e-05	0.0003	5.095e-05	4.715e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	5.216e-05	3.312e-05	0.0003	4.595e-05	4.593e-05	5.138e-05	4.027e-05	0.0002	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.81e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.96	0.70309	D	0.000259	0.46924	D	0.139885	0.982608	0.39912	D	2.63	0.76995	M	-1.08	0.77078	T	-5.17	0.83489	D	0.395	0.43610	0.284	0.87304	D	0.597	0.85648	D	10	0.6746839	0.70920	D	0.209276	0.87190	D	0.718	0.90011	.	.	0.814554111179	0.81281	0.6313428661758689	0.63068	0.343904063785	0.36312	0.306480020285	0.11376	T	0.649803	0.89360	D	-0.127447	0.31909	T	-0.124653	0.61418	T	0.746346771717072	0.43082	D	0.939406	0.77188	D	0.7430927	0.80469	0.53708726	0.73249	0.7430927	0.80471	0.53708726	0.73249	-10.787	0.78477	D	.	.	0.134	0.28976	B	.	.	4.417088	0.68379	25.2	0.99926894552240064	0.99103	0.88705	0.48760	D	AEFBI	0.709697	0.66370	D	0.564937004933761	0.70996	5.584315	0.479774366524855	0.66652	4.979921	0.64516135665358	0.22095	0.615465	0.37627	0	0.633656	0.55848	0	0.566861	0.19136	0	0.636168	0.56350	0	.	.	5.25	3.19	0.35720	4.455000	0.59813	0.476000	0.18759	0.587000	0.30956	1.000000	0.71638	0.993000	0.31925	0.211000	0.22211	0.4288:0.5712:0.0:0.0	12.427	0.54891	982	0.03397	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	98	chr2	241484296	.	C	T	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=729;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.193;SOR=0.864	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1144,0,1146	18	0	1	0
chr3	9384669	9384670	TT	-	exonic	THUMPD3	.	frameshift deletion	THUMPD3:NM_001114092:exon10:c.1505_1506del:p.W503Afs*20,THUMPD3:NM_015453:exon10:c.1505_1506del:p.W503Afs*20	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1562.29	87	chr3	9384668	.	CTT	C	1562.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=753;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0.471;SOR=0.522	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1576,0,1779	18	0	1	0
chr3	9725998	9725998	A	T	exonic	CPNE9	.	unknown	UNKNOWN	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.0225607667351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.034	0.54159	D	0.074	0.24142	B	0.151	0.34210	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.41	0.91792	M	1.69	0.27032	T	-3.16	0.65056	D	0.952	0.97317	-0.9875	0.33224	T	0.102	0.37568	T	10	0.8322639	0.82387	D	0.022561	0.45460	T	0.477	0.76881	0.752	0.88237	0.396645960531	0.39282	0.8706116154324051	0.87027	1.80444484246	0.91712	0.84194290638	0.88390	D	0.052428	0.44448	T	0.266161	0.80094	D	0.144546	0.79838	D	0.976014316082001	0.71190	D	0.960404	0.85096	D	0.62601197	0.74085	0.54513735	0.73707	0.62601197	0.74086	0.54513735	0.73708	-10.704	0.78767	D	.	.	0.977	0.90519	P	.;.;.	.;.;.	4.232876	0.64109	24.7	0.98283246892435983	0.39879	0.99334	0.94646	D	AEFBI	0.904538	0.85496	D	0.253533667157282	0.53813	3.548789	0.371309701345154	0.59802	4.161251	0.999999999966239	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.31	5.31	0.75063	7.089000	0.76571	8.027000	0.76256	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.932	0.70570	724	0.55085	Copine|von Willebrand factor, type A|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2013.33	160	chr3	9725998	.	A	T	2013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.314;SOR=0.645	GT:AD:DP:GQ:PL	0/1:80,80:160:99:2027,0,1838	18	0	1	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	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,49:214:99:.:.:383,0,4554:.	8	0	11	0
chr3	16593675	16593675	A	T	exonic	DAZL	.	nonsynonymous SNV	DAZL:NM_001190811:exon9:c.T775A:p.S259T,DAZL:NM_001351:exon9:c.T715A:p.S239T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00359625195719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.841e-07	0	1.38e-06	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.269	0.22426	T	0.0	0.02946	B	0.002	0.06944	B	0.077251	0.21115	N	0.518653	0.706607	0.33475	D	1.31	0.32734	L	1.78	0.25678	T	-0.71	0.20145	N	0.328	0.37301	-1.0412	0.16951	T	0.056	0.23413	T	10	0.18374076	0.33716	T	0.003596	0.08216	T	0.033	0.08068	0.158	0.06178	0.424463159835	0.42065	0.13061702249137677	0.12986	0.19754653574	0.22128	0.465164154768	0.34018	T	0.135215	0.46690	T	-0.164784	0.26025	T	-0.474477	0.25035	T	0.460495289606075	0.31183	T	0.709529	0.32034	T	0.10514264	0.24859	0.07599481	0.16786	0.10514264	0.24858	0.07599481	0.16785	-3.824	0.21164	T	.	.	0.069	0.03026	B	.;.	.;.	2.060213	0.26197	17.03	0.93795450159623539	0.23762	0.90895	0.52464	D	AEFI	0.317043	0.42116	N	-0.113743469347474	0.36794	2.131639	0.0498336689608138	0.42064	2.537752	0.951158908263957	0.27939	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.82	4.67	0.58089	2.950000	0.48774	4.632000	0.44120	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9149:0.0:0.0851:0.0	9.360	0.37355	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	77.33	14	chr3	16593675	.	A	T	77.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.887;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.78;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,4:14:91:91,0,243	18	0	1	0
chr3	31664183	31664183	C	T	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon10:c.G1954A:p.A652T,OSBPL10:NM_017784:exon11:c.G2146A:p.A716T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0260352440518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010053434	8.213e-06	8.209e-06	9.533e-06	6.879e-06	1.16e-05	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	3.316e-05	1.16e-05	6.578e-06	6.567e-06	0	1.347e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.246	0.17353	T	0.523	0.10354	T	0.888	0.48822	P	0.363	0.43280	B	0.000639	0.42799	D	0.262454	1	0.08975	N	0.375	0.12094	N	1.56	0.29602	T	-0.8	0.25551	N	0.117	0.14905	-0.9942	0.31512	T	0.088	0.33885	T	10	0.10366398	0.19069	T	0.026035	0.48976	D	0.066	0.19193	.	.	0.302793454619	0.29890	0.3681024778690525	0.36724	0.286984204698	0.31096	0.324022829533	0.14031	T	0.018076	0.14632	T	-0.245322	0.14678	T	-0.590165	0.13651	T	0.510048449039459	0.32999	D	0.910909	0.68443	D	0.03568189	0.04245	0.09238247	0.21768	0.03568189	0.04245	0.09238247	0.21768	-5.749	0.45281	T	.	.	0.086	0.10931	B	.;.	.;.	2.609937	0.33897	19.47	0.96776669874361276	0.31057	0.22456	0.21752	N	AEFDBCI	0.167043	0.29368	N	-0.627572839640279	0.18119	0.9381527	-0.674472140961651	0.17600	0.9365869	0.981940160359526	0.30331	0.706298	0.61202	0	0.759151	0.99529	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	2.33	0.27981	0.623000	0.24141	1.390000	0.26108	-0.218000	0.08083	0.003000	0.16062	0.760000	0.26617	0.853000	0.40368	0.5195:0.4805:0.0:0.0	14.712	0.68853	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	828.33	78	chr3	31664183	.	C	T	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=709;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.884;SOR=0.525	GT:AD:DP:GQ:PL	0/1:47,31:78:99:842,0,1155	18	0	1	0
chr3	36855829	36855829	T	A	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon12:c.A3761T:p.D1254V,TRANK1:NM_001329998:exon13:c.A3893T:p.D1298V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0355212713509	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451794716	4.789e-06	4.788e-06	4.084e-06	5.501e-06	0.0002	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.005	0.72224	D	0.994	0.66517	D	0.892	0.63276	P	0.005074	0.33125	N	0.207319	1	0.81001	D	2.22	0.62911	M	1.79	0.25509	T	-4.35	0.76900	D	0.379	0.42050	-0.8488	0.52051	T	0.175	0.51943	T	10	0.3843604	0.54430	T	0.035521	0.56396	D	0.191	0.46948	0.269	0.21735	0.350088858571	0.34617	0.7008997828665912	0.70030	0.795883944927	0.66040	0.363862842321	0.19947	T	0.191305	0.54610	T	0.0530297	0.58733	T	-0.161603	0.58208	T	0.979156613349915	0.72686	D	0.827917	0.49191	T	0.34050098	0.56319	0.2535628	0.51006	0.34050098	0.56319	0.2535628	0.51005	-4.581	0.31932	T	.	.	0.113	0.22135	B	.;.	.;.	3.524269	0.49411	22.8	0.99187127518337026	0.54877	0.95096	0.63423	D	AEFDBI	0.496734	0.53155	N	0.442761916498591	0.63792	4.620062	0.391475809054239	0.61040	4.298563	0.999762911148182	0.42728	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	5.45	0.79688	4.479000	0.59970	6.058000	0.53147	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:0.0:1.0	15.828	0.78506	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2338.33	207	chr3	36855829	.	T	A	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=1646;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.336;SOR=0.716	GT:AD:DP:GQ:PL	0/1:108,99:207:99:2352,0,2636	18	0	1	0
chr3	38251450	38251450	G	A	exonic	OXSR1	.	nonsynonymous SNV	OXSR1:NM_005109:exon16:c.G1423A:p.D475N	.	431	1074	17	0	0	17	0.00785219	.	.	.	2363656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0246765103145	0.0010	0.000399361	0.0007	0	0.0016	0.0001	0	0.0009	0.0022	0.0004	0.0006792	105	154602	rs145431865	0.0006	0.0006	0.0006	0.0006	0.0050	0.0005	0.0005	0.0036	0.0031	0.0003	0.0014	0	5.039e-05	1.872e-05	0.0050	0.0006	0.0009	0.0004	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	4.813e-05	0	0.0006	0	0	0	0	0.0007	0.0014	0	0.052	0.39097	T	0.096	0.39340	T	0.228	0.30509	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.655	0.42436	L	-1.04	0.76561	T	-3.75	0.71157	D	0.591	0.61087	-0.4454	0.70552	T	0.353	0.71611	T	10	0.059049547	0.07038	T	0.024677	0.47667	T	0.376	0.69443	.	.	0.806232872179	0.80441	0.35497379330828527	0.35411	0.966220291154	0.73190	0.857851743698	0.90794	D	0.445586	0.78855	T	-0.353928	0.04485	T	-0.316548	0.42951	T	0.0615864307264436	0.07416	T	0.966703	0.87848	D	0.49359933	0.66717	0.32648548	0.58555	0.49359933	0.66717	0.32648548	0.58554	-10.103	0.74526	D	.	.	0.294	0.52467	B	.	.	4.165679	0.62598	24.5	0.99853679764498693	0.93279	0.99029	0.90187	D	AEFBI	0.815328	0.73733	D	0.2468415530401	0.53482	3.516934	0.390099330104215	0.60952	4.288989	0.999999999808642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	7.906000	0.86803	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.165	0.86692	442	0.79946	Serine/threonine-protein kinase OSR1/WNK, CCT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.002924	0.050000	0.000000	0.006098	0.003788	0.02632	2262.33	185	chr3	38251450	.	G	A	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=819;ExcessHet=0;FS=2.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.57;SOR=0.643	GT:AD:DP:GQ:PL	0/1:90,95:185:99:2276,0,2101	18	0	1	0
chr3	39143578	39143578	T	C	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.A1307G:p.N436S,CSRNP1:NM_001320560:exon5:c.A1247G:p.N416S,CSRNP1:NM_033027:exon5:c.A1247G:p.N416S	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00229822606496	.	.	4.122e-05	0	8.643e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs775143708	2.052e-05	2.052e-05	2.042e-05	2.063e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	2.521e-05	0	8.944e-05	0	0	3.744e-05	0.0003	1.529e-05	6.623e-05	1.159e-05	1.314e-05	1.312e-05	0	2.687e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0.0034	0	0	0	0.625	0.05229	T	0.766	0.04539	T	0.001	0.07471	B	0.001	0.04355	B	0.000318	0.00561	N	9.442000	0.999997	0.08975	N	0.625	0.15840	N	1.04	0.40218	T	0.2	0.04861	N	0.017	0.00226	-1.0549	0.13066	T	0.053	0.22346	T	10	0.019136965	0.00424	T	0.002298	0.04424	T	0.028	0.06331	.	.	0.231005064126	0.22704	0.07239712369360737	0.07176	0.199001487683	0.22291	0.309333652258	0.11806	T	0.067746	0.33280	T	-0.524471	0.00414	T	-0.794171	0.02052	T	0.104493878781796	0.12843	T	0.659934	0.26896	T	0.03425469	0.03810	0.027205061	0.00857	0.03425469	0.03809	0.027205061	0.00857	-1.012	0.01013	T	.	.	0.063	0.01645	B	.;.	.;.	-0.458945	0.02002	0.177	0.64960230585367074	0.07638	0.03274	0.08314	N	AEFDBHCI	0.035614	0.04615	N	-1.18880407112241	0.05169	0.2349893	-1.17808819609373	0.06277	0.3016462	0.999999411141586	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.43	-2.6	0.05830	-1.037000	0.03667	-0.312000	0.10031	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.0:0.3082:0.4498:0.242	5.698	0.17138	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2053.33	157	chr3	39143578	.	T	C	2053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=2009;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.65;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,70:157:99:0|1:39143578_T_C:2067,0,2287:39143578	18	0	1	0
chr3	46678278	46678278	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon16:c.C1738T:p.P580S,ALS2CL:NM_147129:exon16:c.C1738T:p.P580S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0210860446951	.	.	8.849e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs752851592	2.068e-06	2.052e-06	1.368e-06	2.779e-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	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	0.086	0.32610	T	0.031	0.53788	D	0.997	0.70673	D	0.895	0.63489	P	0.036719	0.24488	N	0.336100	1	0.08975	N	2.52	0.73523	M	0.6	0.53731	T	-2.41	0.52938	N	0.421	0.46180	-0.7434	0.58277	T	0.232	0.59806	T	10	0.34076756	0.51139	T	0.021086	0.43804	T	0.280	0.59740	0.428	0.47515	0.441740949975	0.43797	0.5014140098186924	0.50063	0.419392534385	0.42491	0.383897393942	0.22808	T	0.039681	0.25274	T	-0.0432332	0.45469	T	-0.284392	0.46352	T	0.519842565059662	0.33359	D	0.816118	0.47137	T	0.061873987	0.12862	0.06357504	0.12613	0.061873987	0.12862	0.06357504	0.12612	-2.866	0.08808	T	.	.	0.083	0.08997	B	.;.	.;.	3.067262	0.41210	21.3	0.96595077254147077	0.30383	0.91430	0.53517	D	AEFDBI	0.520744	0.54547	D	0.11943824378471	0.47371	2.963649	0.00199520476505477	0.39807	2.365983	0.999989435751366	0.51787	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.1	4.23	0.49319	5.433000	0.66269	7.323000	0.58172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0877:0.0:0.9123:0.0	11.369	0.48930	315	0.87208	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	86	chr3	46678278	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=704;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.32;SOR=0.582	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1111,0,1059	18	0	1	0
chr3	47409780	47409780	G	A	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon18:c.G1697A:p.R566H,PTPN23:NM_015466:exon19:c.G2075A:p.R692H	.	431	1089	2	0	0	2	0.000917431	.	.	.	1417626	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0283498987938	.	.	4.785e-05	0	0	0	0	3.439e-05	0	0.0002	3.88e-05	6	154602	rs758897665	4.465e-05	4.515e-05	3.282e-05	5.66e-05	0.0007	3.59e-05	3.271e-05	0.0002	0.0001	0	2.25e-05	0	2.523e-05	0	0.0007	3.869e-05	0	0.0002	3.285e-05	3.283e-05	0	6.724e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.973e-05	4.823e-05	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.945	0.68163	D	0.001989	0.37503	N	0.210718	0.996045	0.42987	D	1.75	0.45442	L	1.48	0.31731	T	-4.29	0.76414	D	0.268	0.30347	-0.9455	0.41731	T	0.135	0.44971	T	10	0.27076364	0.44610	T	0.02835	0.51038	D	0.125	0.34456	0.308	0.27967	0.605023657363	0.60186	0.2405833597484726	0.23972	0.0720758104395	0.08078	0.473599165678	0.35175	T	0.326083	0.69674	T	-0.272058	0.11529	T	-0.36414	0.37572	T	0.444365940742668	0.30590	T	0.759024	0.38317	T	0.40456676	0.61047	0.36666164	0.61991	0.40456676	0.61047	0.36666164	0.61991	-10.074	0.74354	D	.	.	0.111	0.21728	B	.	.	3.702985	0.52822	23.3	0.99923953796872722	0.98917	0.82203	0.41467	D	AEFDBCI	0.221380	0.34601	N	0.270082663494179	0.54638	3.628973	0.14876424590458	0.47075	2.943378	0.999935816282958	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	2.742000	0.47109	8.533000	0.77464	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.313000	0.24807	0.1019:0.0:0.8981:0.0	9.658	0.39100	20	0.98525	ALIX V-shaped domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.000000	0.000000	0.000000	0.008621	0.003086	0.000000	0.02632	1029.33	100	chr3	47409780	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=812;ExcessHet=0;FS=3.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.812;SOR=0.866	GT:AD:DP:GQ:PL	0/1:57,43:100:99:1043,0,1319	18	0	1	0
chr3	48594462	48594462	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon3:c.C172T:p.R58C	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1417627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.560	0.191479436885	.	.	4.162e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs780696923	1.918e-05	1.984e-05	1.227e-05	2.616e-05	0.0007	1.33e-05	1.145e-05	0.0002	9.95e-05	0	6.708e-05	0	0	0	0.0007	6.295e-06	0	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.081	0.24602	B	0.029	0.21540	B	0.000872	0.41335	D	0.000000	0.931657	0.27041	N	3.325	0.90780	M	-1.89	0.84557	D	-1.34	0.33401	N	0.602	0.62018	-0.1049	0.79987	T	0.573	0.84559	D	10	0.8440664	0.83568	D	0.191479	0.86186	D	0.560	0.81946	0.756	0.88567	0.938344076386	0.93770	0.9166779566197542	0.91642	0.337273134576	0.35723	0.689513683319	0.65636	T	0.465249	0.80047	T	-0.0139641	0.49708	T	-0.0211664	0.68951	D	0.703983783721924	0.40909	D	0.882712	0.60367	D	0.51646173	0.68056	0.24657223	0.50169	0.51646173	0.68057	0.24657223	0.50168	-8.573	0.64911	D	.	.	0.320	0.54521	B	.	.	4.822095	0.78552	26.9	0.98678034670358783	0.44568	0.70491	0.34612	D	AEFDGBHCI	0.589666	0.58646	D	0.0655381408185661	0.44861	2.752501	0.11084815245452	0.45101	2.779454	0.999999984947515	0.74766	0.789315	0.99827	0	0.958517	0.99986	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.88	4.0	0.45673	5.608000	0.67336	9.639000	0.81144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.235000	0.22869	0.0837:0.0:0.7567:0.1596	8.019	0.29561	10	0.99061	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1567.33	111	chr3	48594462	.	G	A	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.033;SOR=0.699	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1581,0,1026	18	0	1	0
chr3	50647150	50647150	C	T	exonic	MAPKAPK3	.	nonsynonymous SNV	MAPKAPK3:NM_001243925:exon10:c.C943T:p.L315F,MAPKAPK3:NM_004635:exon10:c.C943T:p.L315F,MAPKAPK3:NM_001243926:exon12:c.C943T:p.L315F	.	421	1100	1	0	0	1	0.000454339	.	.	.	989706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.323	0.0595736929588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868590760	2.774e-06	3.42e-06	0	5.593e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.557e-05	0	0	0	2.574e-05	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.28	0.90206	M	0.7	0.51474	T	-3.66	0.70067	D	0.784	0.78072	-0.3248	0.74287	T	0.363	0.72445	T	10	0.5527941	0.64350	D	0.059574	0.67710	D	0.323	0.64522	0.493	0.58048	0.685509544888	0.68282	0.5607024582646079	0.55997	1.37639475624	0.84676	0.649191737175	0.59872	T	0.361559	0.72762	T	0.0737205	0.61296	D	-0.131882	0.60813	T	0.981496930122375	0.73944	D	0.995	0.98337	D	0.54363614	0.69600	0.5904981	0.76240	0.54363614	0.69601	0.5904981	0.76241	-8.26	0.62828	D	.	.	0.854	0.93569	P	.;.;.;.	.;.;.;.	4.921114	0.81058	27.5	0.99897941014070324	0.97048	0.96480	0.69349	D	AEFDBI	0.587563	0.58517	D	0.834429062185636	0.88205	9.49143	0.802118846227818	0.89941	10.18652	0.999999999550423	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	5.029000	0.63903	6.007000	0.52582	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	20.190	0.98228	7	0.99271	.;.;.;.	.	.	.	.	.	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	0.000509	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2176.33	159	chr3	50647150	.	C	T	2176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.355;DP=876;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.686;SOR=0.635	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2190,0,1598	18	0	1	0
chr3	52398090	52398090	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon75:c.A12017C:p.Q4006P	.	.	.	.	.	.	.	.	.	.	.	989733	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_specified|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.00889820256379	7.7e-05	.	4.986e-05	0	0	0	0	9.024e-05	0	0	5.17e-05	8	154602	rs369197857	9.989e-05	9.987e-05	9.258e-05	0.0001	0.0002	8.647e-05	8.135e-05	0.0001	9.743e-05	0	6.71e-05	0	0	0	0.0002	0.0001	0.0001	0	6.569e-05	6.566e-05	6.422e-05	6.724e-05	0.0001	3.516e-05	2.616e-05	4.764e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.032	0.44694	D	0.2	0.27591	T	.	.	.	.	.	.	0.378945	0.13417	N	0.685638	0.985635	0.40312	D	.	.	.	3.1	0.08283	T	-3.15	0.64132	D	0.446	0.48411	-1.0282	0.21038	T	0.021	0.08732	T	10	0.14725587	0.27906	T	0.008898	0.23463	T	0.145	0.38592	.	.	0.215109475489	0.21095	0.6912927649491258	0.69069	0.155391498231	0.17539	0.290194749832	0.08950	T	.	.	.	-0.320278	0.06874	T	-0.461165	0.26471	T	0.0538143892499847	0.06158	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06525	B	.	.	1.691224	0.21548	15.25	0.86030057593435638	0.16267	0.72285	0.35386	D	AEFDCI	0.436897	0.49692	N	-0.715799860859892	0.15577	0.7862718	-0.70808666311485	0.16759	0.8880857	0.998936130289044	0.38009	0.660377	0.49826	0	0.606735	0.50208	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	5.06	2.61	0.30255	3.333000	0.51806	3.309000	0.37448	-0.054000	0.16847	0.771000	0.29368	0.014000	0.20376	0.097000	0.18139	0.7876:0.1396:0.0728:0.0	7.753	0.28076	68	0.97118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1299.33	127	chr3	52398090	.	A	C	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=782;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.262;SOR=0.533	GT:AD:DP:GQ:PL	0/1:74,53:127:99:1313,0,1801	18	0	1	0
chr3	55950564	55950564	A	C	exonic	ERC2	.	nonsynonymous SNV	ERC2:NM_015576:exon12:c.T2258G:p.L753R	.	434	1082	6	0	0	6	0.00276498	0.0310	0.124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0110	0.00738818	0.0027	0.0313	0.0013	0	0	1.5e-05	0.0022	6.07e-05	0.0025355	392	154602	rs78657377	0.0008	0.0008	0.0010	0.0007	0.0305	0.0008	0.0008	0.0290	0.0284	0.0305	0.0014	0	0	0	0.0016	2.249e-05	0.0015	3.478e-05	0.0083	0.0083	0.0086	0.0080	0.0293	0.0079	0.0078	0.0279	0.0274	0.0293	0	0.0020	0	0	0	0.0034	2.94e-05	0.0057	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	0.002518	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1706.33	180	chr3	55950564	.	A	C	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.624;DP=817;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.878;SOR=1.041	GT:AD:DP:GQ:PL	0/1:101,79:180:99:1720,0,2417	18	0	1	0
chr3	57384875	57384875	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon49:c.C7814T:p.A2605V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454946400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.63e-05	2.627e-05	2.57e-05	2.692e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.63628	.	.	.	.	.	.	.	0.794913	0.78982	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590264	0.86716	D	.	.	.	.	.	.	.	.	.	0.935106	0.75644	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.68805	P	.	.	5.036173	0.83793	28.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.003000	0.99689	11.584000	0.93361	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	.	.	.	303	0.87825	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	79	chr3	57384875	.	G	A	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=704;ExcessHet=0;FS=3.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.397;SOR=1.079	GT:AD:DP:GQ:PL	0/1:53,26:79:99:609,0,1242	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,110:207:99:0|1:75730450_C_T:4281,0,3731:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,11:112:99:.:.:133,0,4144:.	8	0	11	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:175,76:251:99:.:.:2548,0,6523:.	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,76:252:99:0|1:75736920_C_A:2661,0,7116:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,78:253:99:0|1:75736920_C_A:2742,0,7102:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:152,73:225:99:1678,0,5048	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:138,79:217:99:1812,0,5030	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,103:256:99:.:.:2699,0,5985:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,112:280:99:0|1:75737092_C_T:4177,0,6717:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,112:279:99:0|1:75737092_C_T:4200,0,6675:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,111:275:99:0|1:75737092_C_T:4167,0,6552:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,103:258:99:0|1:75737092_C_T:3858,0,6198:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,67:184:99:0|1:75737092_C_T:2461,0,4711:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,15:121:99:0|1:75737228_T_C:259,0,4373:75737228	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,93:197:99:.:.:3471,0,3617:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,125:254:99:0|1:75737590_A_G:4819,0,5033:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,133:273:99:0|1:75737590_A_G:5163,0,5478:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,141:289:99:0|1:75737590_A_G:5475,0,5790:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,146:293:99:0|1:75737590_A_G:5688,0,5733:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,146:287:99:0|1:75737590_A_G:5706,0,5468:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,78:276:99:0|1:75737814_C_T:2572,0,7501:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,40:279:99:0|1:75737881_T_C:713,0,9535:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,29:263:99:0|1:75737881_T_C:458,0,9612:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,25:259:99:0|1:75737881_T_C:345,0,9661:75737881	1	0	18	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,29:342:99:0|1:75737994_T_C:255,0,12906:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,26:314:99:0|1:75737994_T_C:225,0,12015:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,21:302:36:0|1:75737994_T_C:36,0,11736:75737994	11	0	7	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:92,29:121:99:600,0,2918	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:91,54:145:99:998,0,2325	1	0	18	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,19:47:99:0|1:100775333_T_C:209,0,415:100775333	7	0	11	1
chr3	121440042	121440042	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon27:c.C7339T:p.R2447C	.	440	1077	5	0	0	5	0.00231589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.110129722111	.	.	5.779e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs773110058	2.26e-05	2.257e-05	1.227e-05	3.303e-05	0.0003	1.612e-05	1.418e-05	0.0002	0.0002	0	0	0	2.522e-05	0	0	7.203e-06	0	0.0003	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000030	0.55875	D	0.119263	0.993178	0.41858	D	4.085	0.97236	H	-4.54	0.97732	D	-6.46	0.91436	D	0.661	0.67045	1.104	0.99787	D	0.967	0.98948	D	10	0.83459514	0.82617	D	0.11013	0.78738	D	0.777	0.92542	0.81	0.92650	0.718980613371	0.71650	0.721810602941884	0.72125	0.209469143	0.23414	0.603937864304	0.53460	T	0.671907	0.90271	D	0.188924	0.72865	D	0.369859	0.91066	D	0.970004200935364	0.68793	D	0.941106	0.78031	D	0.8151864	0.84897	0.58790624	0.76096	0.8151864	0.84899	0.58790624	0.76097	-10.71	0.78044	D	0.7112415689620686	0.79150	0.226	0.45738	B	.;.	.;.	5.243188	0.88022	29.4	0.99912334705850192	0.98167	0.78787	0.38925	D	AEFBI	0.408829	0.48035	N	0.740459704708232	0.82283	7.724386	0.64715087689872	0.78398	6.868384	0.0236772614399562	0.13524	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	1.820000	0.38670	4.469000	0.43488	0.676000	0.76740	0.729000	0.28913	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.181	0.89712	153	0.93993	DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1287.33	113	chr3	121440042	.	G	A	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=730;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1301,0,1192	18	0	1	0
chr3	126727132	126727132	C	T	exonic	CHCHD6	.	nonsynonymous SNV	CHCHD6:NM_001320610:exon2:c.C142T:p.P48S,CHCHD6:NM_032343:exon2:c.C142T:p.P48S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0184860357885	0.0005	0.000998403	0.0003	0.0012	0.0005	0	0	0.0003	0.0011	0	0.0003363	52	154602	rs139974706	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0.0007	0.0013	0	0	1.872e-05	0.0035	0.0001	0.0006	1.159e-05	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0004	0.0012	0.0011	0.0011	0	0.0018	0	0	0	0	0.0001	0.0024	0	0.132	0.26519	T	0.327	0.21011	T	0.243	0.30970	B	0.078	0.28627	B	0.164098	0.17572	N	0.567636	1	0.08975	N	.	.	.	1.02	0.40749	T	-1.17	0.34198	N	0.136	0.24758	-1.0525	0.13709	T	0.080	0.31824	T	10	0.011856049	0.00257	T	0.018486	0.40571	T	0.035	0.08770	.	.	0.16115917748	0.15686	0.19158332000526715	0.19076	0.0526948635946	0.05807	0.301848828793	0.10676	T	0.005216	0.04657	T	-0.607701	0.00131	T	-0.68623	0.06610	T	0.0112220169575332	0.00165	T	0.530047	0.17581	T	0.030376067	0.02690	0.032493185	0.01993	0.030376067	0.02690	0.032493185	0.01993	-3.964	0.23263	T	.	.	0.070	0.04681	B	.;.	.;.	0.067257	0.04764	1.385	0.95078144214533755	0.26125	0.01238	0.04371	N	AEFBI	0.040570	0.06054	N	-0.857027040197855	0.11878	0.5756929	-0.98798706814173	0.10054	0.5040183	0.0461403415749677	0.14678	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.92	0.806	0.17851	0.349000	0.19801	-0.522000	0.08684	-0.242000	0.07441	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.4724:0.2499:0.2777	3.208	0.06274	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.015152	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1218.33	122	chr3	126727132	.	C	T	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=741;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.418;SOR=0.565	GT:AD:DP:GQ:PL	0/1:71,51:122:99:1232,0,1807	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,25:66:99:0|1:128055734_T_C:309,0,752:128055734	3	0	16	0
chr3	128904091	128904091	A	C	exonic	ACAD9	.	nonsynonymous SNV	ACAD9:NM_014049:exon10:c.A988C:p.K330Q	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	139957	not_provided|ACAD9-related_disorder|Acyl-CoA_dehydrogenase_9_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.755	.	0.0004	0.00599042	0.0024	0.0003	0	0.0287	0	0.0003	0.0022	0.0007	0.0023027	356	154602	rs79530903	0.0010	0.0010	0.0010	0.0011	0.0283	0.0010	0.0010	0.0269	0.0264	5.974e-05	0.0001	0.0008	0.0283	3.744e-05	0.0003	0.0001	0.0027	0.0007	0.0014	0.0014	0.0015	0.0014	0.0280	0.0013	0.0012	0.0243	0.0229	0.0003	0	0.0012	0.0012	0.0280	9.413e-05	0	0.0003	0.0047	0.0017	0.057	0.37966	T	0.213	0.26467	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.087401	1	0.81001	D	1.635	0.41844	L	-3.98	0.96277	D	-1.99	0.45949	N	0.603	0.62103	0.596	0.91852	D	0.817	0.93819	D	10	0.02150324	0.00516	T	.	.	.	0.755	0.91626	.	.	0.965145438206	0.96477	0.7684427270801581	0.76793	0.762324441734	0.64334	0.550609827042	0.45942	T	0.611206	0.87681	D	-0.0129288	0.49855	T	0.229602	0.84650	D	0.0130155592343673	0.00226	T	0.973503	0.90460	D	0.50635314	0.67467	0.349527	0.60576	0.46380976	0.64908	0.38862124	0.63701	-5.081	0.37706	T	0.23520670162858104	0.31847	0.114	0.22500	B	.	.	4.003199	0.59000	24.0	0.99450291017949533	0.65223	0.98683	0.85537	D	AEFDBI	0.814512	0.73671	D	0.568277464307811	0.71201	5.615133	0.576053489782208	0.73226	5.936122	0.999980362252618	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.550000	0.73804	9.059000	0.78659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	13.373	0.60169	596	0.68392	Acyl-CoA dehydrogenase/oxidase 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	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2311.33	208	chr3	128904091	.	A	C	2311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=838;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.853;SOR=0.977	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2325,0,3076	18	0	1	0
chr3	129039837	129039837	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon8:c.G1789A:p.V597I,EFCC1:NM_024768:exon8:c.G1786A:p.V596I	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00573061592155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212422839	1.514e-05	1.505e-05	1.641e-05	1.385e-05	0.0002	9.91e-06	8.46e-06	2.389e-05	1.262e-05	9.018e-05	0	0	2.544e-05	0	0.0002	1.356e-05	3.336e-05	0	1.314e-05	1.313e-05	1.284e-05	1.346e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.018650	0.27435	N	0.292535	0.999982	0.18198	N	-1.555	0.00461	N	.	.	.	.	.	.	0.115	0.10340	-0.9716	0.36862	T	0.013	0.05225	T	10	0.02670452	0.00831	T	0.005731	0.14862	T	0.045	0.12272	0.133	0.03747	0.0138822411134	0.00435	0.058080122797966836	0.05749	.	.	0.393999516964	0.24231	T	8.15E-4	0.00397	T	-0.490361	0.00647	T	-0.759999	0.03112	T	0.023817831289488	0.01122	T	0.388161	0.09588	T	0.019022882	0.00427	0.0277018	0.00943	0.019022882	0.00427	0.0277018	0.00943	-3.458	0.15849	T	.	.	0.070	0.03552	B	.	.	-0.162824	0.03284	0.564	0.68028183689491362	0.08533	0.08628	0.14530	N	ALL	0.037069	0.05041	N	-1.32760325859248	0.03363	0.150091	-1.12636551832151	0.07199	0.3493067	0.999846329431595	0.43971	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.553173	0.17726	1	.	.	3.94	-0.203	0.12555	0.608000	0.23921	-0.430000	0.09227	-0.962000	0.01975	0.985000	0.35982	0.000000	0.08366	0.057000	0.15750	0.5412:0.2088:0.25:0.0	3.326	0.06654	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2439.33	201	chr3	129039837	.	G	A	2439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=823;ExcessHet=0;FS=9.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.123;SOR=1.261	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2453,0,2343	18	0	1	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,13:63:34:.:.:334,0,798:.	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,29:63:99:.:.:503,0,783:.	3	0	13	3
chr3	130471687	130471687	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon40:c.T7580C:p.L2527P	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	.	0.0263578	0.0285	0.0109	0.0160	0.0657	0	0.0006	0	0.0428	0.0037645	582	154602	rs79145375	0.0054	0.0051	0.0043	0.0065	0.0483	0.0053	0.0053	0.0464	0.0457	0.0160	0.0021	0	0.0483	0.0248	0.0044	0.0003	0.0092	0.0431	0.0099	0.0099	0.0087	0.0111	0.0468	0.0095	0.0093	0.0420	0.0401	0.0163	0	0.0037	0	0.0468	0.0224	0	0.0010	0.0071	0.0438	0.003	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999514	0.21065	N	.	.	.	-1.29	0.79475	T	-2.17	0.49018	N	0.19	0.20793	-0.6062	0.64560	T	0.230	0.59571	T	8	0.0027344525	0.00043	T	.	.	.	0.177	0.44549	.	.	.	.	0.425289673021384	0.42445	0.041224094407	0.04422	0.503200650215	0.39274	T	0.011191	0.16015	T	-0.44479	0.01212	T	-0.375181	0.36285	T	0.00969623317858612	0.00127	T	0.324568	0.07525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.47827	B	.;.;.	.;.;.	1.140838	0.15283	11.73	0.96755206101889679	0.30976	0.14460	0.18415	N	AEFI	0.145076	0.26819	N	-0.670072565404082	0.16878	0.863785	-0.66580335578034	0.17819	0.9491404	1.33745527043954E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	0.531000	0.22759	1.420000	0.26356	0.609000	0.47794	0.541000	0.27275	0.964000	0.29435	0.041000	0.14368	0.0:0.2822:0.0:0.7178	7.354	0.25882	380	0.83728	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2298.83	107	chr3	130471687	.	T	C	2298.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.197;DP=809;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.96;SOR=0.727	GT:AD:DP:GQ:PL	0/1:67,40:107:99:1057,0,1789	17	0	2	0
chr3	130718421	130718421	G	C	exonic	PIK3R4	.	nonsynonymous SNV	PIK3R4:NM_014602:exon8:c.C2095G:p.L699V	.	418	1103	1	0	0	1	0.000453104	.	.	.	697835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0003	0.00579073	0.0039	9.61e-05	0.0063	0.0238	0.0181	0.0011	0.0055	6.058e-05	0.0034799	538	154602	rs56369596	0.0017	0.0017	0.0017	0.0016	0.0236	0.0016	0.0016	0.0224	0.0219	2.988e-05	0.0050	0	0.0236	0.0189	0	0.0001	0.0019	6.957e-05	0.0025	0.0025	0.0017	0.0034	0.0251	0.0023	0.0022	0.0216	0.0202	2.407e-05	0	0.0016	0	0.0251	0.0180	0	0.0005	0.0019	0.0002	0.098	0.56456	T	0.22	0.92824	T	0.989	0.62824	D	0.729	0.55225	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	1.66	0.47130	T	-1.25	0.35991	N	0.775	0.77226	-1.0287	0.20876	T	0.095	0.35765	T	10	0.0046711564	0.00098	T	.	.	.	0.181	0.45247	.	.	0.503490013456	0.49987	0.6591278423793836	0.65849	0.809278591952	0.66664	0.598607182503	0.52708	T	0.033954	0.23124	T	-0.184325	0.23093	T	-0.0159174	0.69297	D	0.0359620509607352	0.02974	T	0.921408	0.76326	D	0.17825238	0.38835	0.169659	0.39016	0.17825238	0.38834	0.169659	0.39016	-7.255	0.55875	T	.	.	0.133	0.33156	B	.;.;.;.	.;.;.;.	3.996445	0.58859	24.0	0.99824963748688356	0.90764	0.98971	0.89357	D	AEFBI	0.868853	0.78915	D	0.535440523272507	0.69200	5.323483	0.591350708838586	0.74319	6.116698	0.999999999814032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	7.728000	0.83805	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.297	0.94114	396	0.82953	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2659.33	245	chr3	130718421	.	G	C	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.696;DP=886;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.993;SOR=0.553	GT:AD:DP:GQ:PL	0/1:128,117:245:99:2673,0,3027	18	0	1	0
chr3	151443470	151443470	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon6:c.G5477A:p.G1826D,IGSF10:NM_001385060:exon7:c.G5477A:p.G1826D,IGSF10:NM_178822:exon7:c.G5477A:p.G1826D,IGSF10:NM_001385062:exon8:c.G5477A:p.G1826D,IGSF10:NM_001385063:exon8:c.G5477A:p.G1826D	.	428	1087	7	0	0	7	0.00320954	.	.	.	800375	Premature_ovarian_failure|not_provided	MONDO:MONDO:0005387,MedGen:C0085215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0154544927008	0.0002	0.000399361	0.0004	9.628e-05	8.646e-05	0.0001	0.0009	0.0002	0	0.0018	0.0003816	59	154602	rs147801336	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0029	0.0024	2.987e-05	8.944e-05	0	0	0.0004	0.0042	0.0001	0.0004	0.0017	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0007	0	0	0.0003	0.0034	0.0002	0	0.0015	0.006	0.61437	D	0.005	0.72224	D	0.002	0.09854	B	0.017	0.18140	B	0.374029	0.13485	N	0.637226	0.985552	0.24700	N	1.385	0.34509	L	-0.3	0.67874	T	-1.89	0.44094	N	0.068	0.04072	-0.9327	0.43740	T	0.201	0.55780	T	9	0.022068024	0.00542	T	0.015454	0.36188	T	0.150	0.39571	.	.	0.612662979051	0.60954	0.6566080735774252	0.65596	0.0295101065631	0.03033	0.274061501026	0.06677	T	0.063312	0.32143	T	-0.463186	0.00939	T	-0.457125	0.26912	T	0.048098911662074	0.05162	T	0.715628	0.32820	T	0.29208627	0.52186	0.39892805	0.64469	0.29208627	0.52186	0.39892805	0.64469	-9.651	0.71796	D	.	.	0.144	0.31758	B	.	.	1.972092	0.25051	16.62	0.94083987058924379	0.24236	0.05904	0.11855	N	AEFDCI	0.503769	0.53562	D	-0.566209853220989	0.19979	1.049805	-0.494440533920402	0.22306	1.210924	0.99778833426933	0.36027	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.41	0.28644	4.014000	0.56857	3.298000	0.37359	-0.326000	0.05813	1.000000	0.71638	0.998000	0.33993	0.950000	0.49671	0.1466:0.2502:0.6032:0.0	7.738	0.27990	813	0.42397	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2485.33	192	chr3	151443470	.	C	T	2485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.282;SOR=0.694	GT:AD:DP:GQ:PL	0/1:97,95:192:99:2499,0,2690	18	0	1	0
chr3	155596325	155596325	G	A	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon2:c.C97T:p.R33C,PLCH1:NM_001130961:exon2:c.C97T:p.R33C,PLCH1:NM_001349250:exon2:c.C97T:p.R33C,PLCH1:NM_001349251:exon3:c.C133T:p.R45C,PLCH1:NM_001349252:exon3:c.C133T:p.R45C,PLCH1:NM_014996:exon3:c.C133T:p.R45C	.	432	1078	12	0	0	12	0.00553506	.	.	.	3185270	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.211	.	0.0032	0.00339457	0.0041	0.0006	0.0054	0	0.0009	0.0059	0.0044	0.0012	0.0041073	635	154602	rs150143990	0.0051	0.0052	0.0053	0.0050	0.0071	0.0050	0.0050	0.0060	0.0058	0.0006	0.0066	0.0153	0.0001	0.0012	0.0071	0.0056	0.0059	0.0011	0.0042	0.0042	0.0044	0.0040	0.0071	0.0039	0.0038	0.0060	0.0056	0.0008	0	0.0071	0.0164	0	0.0004	0.0034	0.0061	0.0052	0.0010	0.054	0.42487	T	0.012	0.64786	D	0.864	0.68779	P	0.371	0.59428	B	0.307593	0.14490	N	0.639874	0.994407	0.42269	D	1.5	0.37844	L	-0.09	0.64086	T	-1.78	0.42001	N	0.377	0.48596	-0.7512	0.57873	T	0.178	0.52350	T	10	0.010420203	0.00232	T	.	.	.	0.211	0.50185	.	.	0.750385564285	0.74813	0.43437989155751033	0.43354	1.20945217804	0.80786	0.59161734581	0.51722	T	0.246216	0.61564	T	-0.351772	0.04616	T	-0.274347	0.47379	T	0.0216247507308653	0.00867	T	0.962104	0.86445	D	0.074392036	0.16690	0.067561164	0.13994	0.074392036	0.16690	0.067561164	0.13994	-3.409	0.15738	T	.	.	0.117	0.37501	B	.;.;.;.;.	.;.;.;.;.	5.542149	0.91973	32	0.99908449058996118	0.97875	0.90264	0.51303	D	AEFI	0.681610	0.64491	D	0.459950472960491	0.64769	4.739147	0.512021896541662	0.68796	5.270035	0.0818719120363002	0.15885	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	4.46	0.53567	4.528000	0.60294	8.313000	0.76950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1215:0.5731:0.3054	7.487	0.26610	595	0.68488	.;Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.015152	0.004076	0.008772	0.000000	0.000000	0.012195	0.003788	0.02632	1721.33	156	chr3	155596325	.	G	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.366;DP=860;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.6;SOR=0.568	GT:AD:DP:GQ:PL	0/1:82,74:156:99:1735,0,1877	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,19:127:99:.:.:283,0,4120:.	8	0	10	1
chr3	178842768	178842768	G	A	exonic	KCNMB2	.	nonsynonymous SNV	KCNMB2:NM_001278911:exon5:c.G539A:p.G180E,KCNMB2:NM_181361:exon5:c.G539A:p.G180E,KCNMB2:NM_005832:exon6:c.G539A:p.G180E	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0135044039846	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs781033629	8.826e-05	8.824e-05	4.765e-05	0.0001	0.0014	7.556e-05	7.102e-05	0.0012	0.0011	0	0	0	0	0	0	3.598e-06	6.624e-05	0.0014	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.376	0.11334	T	1.0	0.01155	T	0.017	0.17573	B	0.027	0.21085	B	0.000011	0.62929	D	0.154746	0.999832	0.49637	D	-0.05	0.04954	N	3.11	0.08194	T	0.09	0.05917	N	0.142	0.23884	-0.8943	0.48549	T	0.011	0.04321	T	10	0.0176996	0.00379	T	0.013504	0.32951	T	0.156	0.40720	0.463	0.53242	0.043077524339	0.03247	0.6878217481705801	0.68722	1.03228781939	0.75458	0.641217827797	0.58737	T	0.031822	0.22214	T	-0.488675	0.00661	T	-0.504804	0.21850	T	0.0582015658936055	0.06883	T	0.864914	0.56300	D	0.1584665	0.35649	0.2963199	0.55664	0.1584665	0.35649	0.2963199	0.55663	-1.632	0.02058	T	.	.	0.160	0.38693	B	.;.;.;.;.;.	.;.;.;.;.;.	2.719362	0.35566	19.93	0.92681095845324502	0.22167	0.96382	0.68865	D	AEFBI	0.572029	0.57577	D	-0.278118862439741	0.29995	1.668428	0.0254582013448706	0.40901	2.448394	0.991004451670188	0.32341	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	3.364000	0.52052	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.422	0.99051	527	0.73864	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1827.33	138	chr3	178842768	.	G	A	1827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=769;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.14;SOR=0.58	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1841,0,1727	18	0	1	0
chr3	184344792	184344792	C	T	exonic	FAM131A	.	nonsynonymous SNV	FAM131A:NM_001366133:exon5:c.C668T:p.S223L,FAM131A:NM_001171093:exon6:c.C668T:p.S223L,FAM131A:NM_144635:exon6:c.C923T:p.S308L,FAM131A:NM_001366134:exon7:c.C668T:p.S223L	.	433	1088	1	0	0	1	0.000459348	.	.	.	2269537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0114463849395	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs138134153	0.0001	0.0001	8.589e-05	0.0001	0.0007	9.818e-05	9.233e-05	0.0005	0.0004	0.0002	0	0	0	1.938e-05	0.0007	8.274e-05	0.0001	0.0006	8.532e-05	8.529e-05	0.0001	6.71e-05	0.0004	4.952e-05	3.958e-05	7.909e-05	5.995e-05	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0004	0.165	0.28148	T	0.167	0.34009	T	0.011	0.15914	B	0.007	0.12992	B	0.293503	0.14725	N	0.646591	1	0.81001	D	0.55	0.14455	N	1.88	0.23884	T	-0.27	0.17417	N	0.149	0.39558	-1.0625	0.11142	T	0.038	0.16203	T	10	0.05492884	0.05925	T	0.011446	0.29087	T	0.055	0.15663	.	.	0.215109475489	0.21095	0.2525001106502619	0.25164	0.356215154731	0.37372	0.478987038136	0.35918	T	.	.	.	-0.373774	0.03408	T	-0.446717	0.28060	T	0.0386876847412976	0.03453	T	0.863614	0.59164	D	0.05972023	0.12171	0.047497615	0.06855	0.05972023	0.12170	0.047497615	0.06854	-3.78	0.20506	T	.	.	0.106	0.19800	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.065018	0.41174	21.3	0.99151921869598136	0.53848	0.69895	0.34370	D	AEFDBCI	0.190008	0.31725	N	-0.25826815107972	0.30774	1.719143	-0.116584352081505	0.34721	2.000462	0.999780001381845	0.43007	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	4.73	2.57	0.29928	2.840000	0.47915	3.960000	0.40741	0.594000	0.32500	0.991000	0.37257	1.000000	0.68203	0.984000	0.60418	0.0:0.4582:0.0:0.5418	4.296	0.10344	913	0.21160	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	183	chr3	184344792	.	C	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=825;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=0.618;SOR=0.848	GT:AD:DP:GQ:PL	0/1:105,78:183:99:1927,0,2374	18	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1333	33235.5	441	chr3	195778917	.	G	*	33235.5	.	AC=4;AF=0.133;AN=30;BaseQRankSum=3.61;DP=6934;ExcessHet=4.595;FS=4.108;InbreedingCoeff=-0.3196;MLEAC=5;MLEAF=0.167;MQ=56.41;MQRankSum=-4.995;QD=9.52;ReadPosRankSum=-0.848;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:346,74:441:99:.:.:4131,0,12817:.	11	0	4	4
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	45498.8	626	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	45498.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.89;DP=8901;ExcessHet=4.0818;FS=1.787;InbreedingCoeff=-0.2179;MLEAC=4;MLEAF=0.105;MQ=55.88;MQRankSum=-5.582;QD=8.72;ReadPosRankSum=-2.868;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:531,78:626:99:.:.:2858,0,20588:.	15	0	4	0
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:531,78:626:99:.:.:2858,0,20588:.	9	0	6	4
chr3	195779001	195779001	A	0	exonic	MUC4	.	.	.	.	424	967	14	0	117	131	0.00718686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	171.08	626	chr3	195779001	.	A	*	171.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.189;DP=6930;ExcessHet=1.0667;FS=3.257;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.391;QD=0.07;ReadPosRankSum=-1.285;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:531,78:626:99:.:.:2858,0,20588:.	9	0	3	7
chr3	195779003	195779003	G	0	exonic	MUC4	.	.	.	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	179.08	626	chr3	195779003	.	G	*	179.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:531,78:626:99:.:.:2858,0,20588:.	9	0	3	7
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:298,54:395:99:.:.:624,0,16578:.	5	1	5	8
chr3	195779084	195779084	C	0	exonic	MUC4	.	.	.	.	640	776	13	4	89	110	0.0133503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	92.25	404	chr3	195779084	.	C	*	92.25	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=5327;ExcessHet=0.5115;FS=0;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.15;MQ=58.15;MQRankSum=-7.181;QD=0.07;ReadPosRankSum=-6.241;SOR=0.728	GT:AD:DP:GQ:PL	0/1:297,105:404:99:2574,0,11875	8	0	2	9
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	11	6	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,185:189:99:.:.:8167,471,0:.	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,200:223:99:0|1:195779564_T_G:7808,0,130:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,109:112:99:.:.:5273,247,0:.	5	7	1	6
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,109:124:99:0|1:195779671_G_*:6263,0,144:195779671	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,109:129:91:0|1:195779671_G_*:7562,0,91:195779671	7	5	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:20,175:195:29:.:.:7106,29,0:.	5	6	2	6
chr3	195780212	195780212	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A11368G:p.T3790A,MUC4:NM_001322468:exon15:c.A9928G:p.T3310A	.	450	1068	4	0	0	4	0.00186916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.157947	0.0020	0.0075	0.0026	0	0.0019	0.0021	0	0.0013	0.0057502	889	154602	rs78552467	0.0020	0.0055	0.0020	0.0019	0.0047	0.0019	0.0019	0.0040	0.0038	0.0047	0.0024	0.0026	0.0029	0.0017	0.0021	0.0018	0.0024	0.0020	0.0022	0.0093	0.0023	0.0020	0.0046	0.0019	0.0018	0.0038	0.0036	0.0046	0.0016	0.0008	0.0004	0.0003	0.0010	0.0120	0.0018	0.0016	0.0003	0.431	0.13610	T	0.038	0.51421	D	.	.	.	.	.	.	0.569665	0.11251	U	0.388960	1	0.81001	D	.	.	.	1.54	0.30401	T	-0.8	0.22078	N	0.022	0.00770	-1.0425	0.16562	T	0.030	0.12804	T	8	0.002778381	0.00044	T	.	.	.	0.039	0.10176	.	.	0.0138822411134	0.00435	4.4809569040158624E-4	0.00040	.	.	0.473674535751	0.35186	T	.	.	.	-0.33269	0.05910	T	-0.715663	0.05008	T	0.00922962232850453	0.00117	T	0.506749	0.16047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.;.	.;.	0.368375	0.07406	4.035	0.63711632242100646	0.07297	0.00870	0.03447	N	AEFBI	0.062952	0.12134	N	-1.03928605296556	0.07799	0.3635398	-1.20137345916064	0.05888	0.2818536	1.1658109177863E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	3.439000	0.52642	-7.285000	0.01189	0.091000	0.17597	0.737000	0.28995	0.000000	0.08366	0.046000	0.14843	3.0E-4:2.0E-4:0.4983:0.5012	2.830	0.05161	601	0.67921	.;.	.	.	.	.	.	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	0.027363	0.070652	0.001684	0.076190	0.150000	0.012195	0.020833	0.013158	0.03333	394.05	19	chr3	195780212	.	T	C	394.05	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.28;DP=8246;ExcessHet=0;FS=2.754;InbreedingCoeff=0.1084;MLEAC=1;MLEAF=0.033;MQ=54.66;MQRankSum=1.32;QD=20.74;ReadPosRankSum=2.05;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,16:19:99:0|1:195780212_T_C:406,0,99:195780212	14	0	1	4
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,88:732:99:0|1:195781579_GGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGA_*:1847,0,26514:195781579	7	0	10	2
chr3	195781607	195781703	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	0	exonic	MUC4	.	.	.	.	455	767	10	10	280	310	0.0191816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5738.6	732	chr3	195781607	.	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	*	5738.6	.	AC=3;AF=0.167;AN=18;DP=7165;ExcessHet=0.0506;FS=4.874;InbreedingCoeff=-0.0857;MLEAC=5;MLEAF=0.278;MQ=52.52;MQRankSum=1.54;QD=3.34;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,88:732:99:0|1:195781579_GGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGA_*:1847,0,26514:195781579	6	0	3	10
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,373:655:99:.:.:19679,8159,10498:.	5	5	8	1
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,151:322:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2942,0,6496:195781775	7	1	10	1
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,38:329:99:0|1:195783068_G_T:654,0,10676:195783068	6	0	5	8
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	329.52	321	chr3	195783105	.	C	*	329.52	.	AC=4;AF=0.154;AN=26;BaseQRankSum=4.36;DP=7378;ExcessHet=1.7113;FS=6.552;InbreedingCoeff=0.0048;MLEAC=5;MLEAF=0.192;MQ=57.33;MQRankSum=-7.859;QD=0.2;ReadPosRankSum=3.55;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,38:321:99:0|1:195783068_G_T:665,0,10599:195783068	9	0	4	6
chr3	195787243	195787243	G	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4337delC:p.P1446Lfs*1558,MUC4:NM_001322468:exon5:c.4337delC:p.H1446Lfs*863	.	721	767	5	1	28	35	0.0045425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1396416248	0.0023	0.0054	0.0022	0.0023	0.0041	0.0021	0.0021	0.0032	0.0029	0.0013	0.0006	0.0054	0.0041	0.0023	0.0008	0.0025	0.0029	0.0004	0.0004	0.0057	0.0005	0.0004	0.0006	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0029	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	90.02	12	chr3	195787242	.	AG	A	90.02	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.46;DP=298;ExcessHet=0;FS=3.424;InbreedingCoeff=0.0285;MLEAC=2;MLEAF=0.091;MQ=37.02;MQRankSum=-0.908;QD=7.5;ReadPosRankSum=-2.362;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,3:12:99:1|0:195787233_T_A:99,0,369:195787233	10	0	1	8
chr3	195787245	195787245	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4335G:p.I1445M,MUC4:NM_001322468:exon5:c.C4335G:p.I1445M	.	794	694	4	1	29	35	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0324580274424	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228901631	0.0013	0.0052	0.0013	0.0013	0.0023	0.0012	0.0011	0.0017	0.0014	0.0012	0.0003	0.0046	0.0023	0.0011	0.0008	0.0014	0.0018	6.767e-05	0.0001	0.0074	0.0002	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0.0002	0	0	0.033	0.44358	D	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32722	T	-0.1	0.08495	N	0.076	0.22486	-1.0330	0.19490	T	0.024	0.10148	T	7	0.060831457	0.07532	T	0.032458	0.54278	D	0.118	0.32913	0.17	0.07536	0.0138822411134	0.00435	1.8549583422076175E-5	0.00001	.	.	0.475635021925	0.35456	T	.	.	.	-0.331908	0.05968	T	-0.71454	0.05064	T	0.0534780945884143	0.06101	T	0.80002	0.44558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.35581	B	.;.	.;.	1.109029	0.14942	11.46	0.55533398527950439	0.05362	0.00177	0.01040	N	AEFGI	0.045122	0.07343	N	-1.82617061069096	0.00484	0.02084429	-1.94669258445356	0.00395	0.01744831	0.00294313514667599	0.09819	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.155000	0.16180	-1.028000	0.06557	0.061000	0.17545	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2569:0.2433:0.2564:0.2434	0.134	0.00071	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	.	.	.	.	.	.	.	.	0.04545	48.13	11	chr3	195787245	.	G	C	48.13	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.349;DP=297;ExcessHet=0;FS=4.616;InbreedingCoeff=0.0251;MLEAC=2;MLEAF=0.091;MQ=37.29;MQRankSum=-0.605;QD=4.38;ReadPosRankSum=-2.362;SOR=0.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:1|0:195787233_T_A:57,0,372:195787233	10	0	1	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	725.76	4	chr3	195787598	.	GCAT	G	725.76	.	AC=6;AF=0.188;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=6;MLEAF=0.188;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787508_T_C:180,12,0:195787508	13	3	0	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787508_T_C:180,12,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787508_T_C:180,12,0:195787508	4	8	1	6
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	5594.28	1027	chr3	195788132	.	T	*	5594.28	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.91;DP=5429;ExcessHet=1.7113;FS=2.868;InbreedingCoeff=-0.0662;MLEAC=3;MLEAF=0.136;MQ=52.31;MQRankSum=-7.356;QD=2.39;ReadPosRankSum=-0.022;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:846,181:1027:99:0|1:195788077_G_A:3941,0,34006:195788077	9	0	2	8
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	3918.26	1027	chr3	195788137	.	C	*	3918.26	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.12;DP=4189;ExcessHet=0.3364;FS=0.558;InbreedingCoeff=0.1389;MLEAC=2;MLEAF=0.063;MQ=53.33;MQRankSum=2.64;QD=2.34;ReadPosRankSum=0.21;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:846,181:1027:99:0|1:195788077_G_A:3941,0,34006:195788077	14	0	2	3
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	2576.03	1027	chr3	195788146	.	A	*	2576.03	.	AC=1;AF=0.045;AN=22;BaseQRankSum=6.26;DP=5346;ExcessHet=0.9858;FS=2.483;InbreedingCoeff=0.0048;MLEAC=1;MLEAF=0.045;MQ=53.89;MQRankSum=-7.422;QD=1.45;ReadPosRankSum=-0.8;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:846,181:1027:99:0|1:195788077_G_A:3941,0,34006:195788077	10	0	1	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	1609.21	1027	chr3	195788160	.	G	*	1609.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.81;DP=5710;ExcessHet=0.856;FS=2.597;InbreedingCoeff=0.0074;MLEAC=1;MLEAF=0.033;MQ=54.98;MQRankSum=-8.432;QD=0.86;ReadPosRankSum=-2.644;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:846,181:1027:99:0|1:195788077_G_A:3941,0,34006:195788077	14	0	1	4
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	388.13	545	chr3	195788174	.	A	*	388.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.46;DP=5245;ExcessHet=0.1336;FS=2.658;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.033;MQ=55.45;MQRankSum=-6.99;QD=0.59;ReadPosRankSum=-1.755;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:356,169:545:99:.:.:5276,0,15192:.	14	0	1	4
chr4	991630	991630	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon2:c.G74A:p.R25Q,SLC26A1:NM_134425:exon2:c.G74A:p.R25Q,SLC26A1:NM_213613:exon3:c.G74A:p.R25Q	.	234	1269	19	0	0	19	0.00743058	.	.	.	1646966	SLC26A1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.143261176074	0.0009	0.000798722	0.0010	0.0003	0.0005	0	0	0.0012	0	0.0024	0.0008279	128	154602	rs35719765	0.0010	0.0010	0.0009	0.0012	0.0156	0.0010	0.0010	0.0129	0.0120	0.0005	0.0007	4.101e-05	0	5.308e-05	0.0156	0.0009	0.0018	0.0025	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0010	0.0010	0.0002	0	0.0012	0	0.0002	0	0.0136	0.0012	0.0033	0.0017	0.737	0.04864	T	0.608	0.07842	T	0.0	0.02946	B	0.0	0.01387	B	0.021946	0.01563	N	3.198590	0.999999	0.08975	N	-1.32	0.00691	N	-3.0	0.93054	D	0.1	0.05810	N	0.078	0.05929	-0.4471	0.70496	T	0.391	0.74524	T	10	0.0065609515	0.00149	T	0.143261	0.82560	D	0.262	0.57482	.	.	0.347659731818	0.34379	0.14615171333840088	0.14537	0.128866554687	0.14530	0.388208150864	0.23417	T	0.050409	0.28586	T	-0.471187	0.00836	T	-0.454842	0.27163	T	0.00322538279905694	0.00034	T	0.378562	0.09103	T	0.017236993	0.00257	0.022291442	0.00257	0.020795481	0.00651	0.023041084	0.00320	-4.073	0.24891	T	.	.	0.077	0.06250	B	.;.;.;.	.;.;.;.	-0.825641	0.01058	0.046	0.74783645981953928	0.10825	0.01482	0.04930	N	AEFBCI	0.024178	0.01456	N	-2.33826053942339	0.00037	0.001602423	-2.39964868108738	0.00039	0.001727806	0.999999999999847	0.74766	0.562547	0.31514	0	0.550933	0.16991	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.3	-10.6	0.00212	-2.664000	0.00921	.	.	-1.645000	0.00834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1519:0.385:0.1872:0.2758	3.081	0.05885	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	1	0	0.017137	0.000000	0.014946	0.032164	0.100000	0.008621	0.018293	0.000000	0.02632	2836.33	220	chr4	991630	.	C	T	2836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=989;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.131;SOR=0.811	GT:AD:DP:GQ:PL	0/1:111,109:220:99:2850,0,2564	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:99,36:135:63:63,0,2227	1	0	18	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	59.82	50	chr4	9210768	.	C	G	59.82	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.77;DP=812;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.056;MQ=22.25;MQRankSum=-0.613;QD=0.58;ReadPosRankSum=0.728;SOR=0.301	GT:AD:DP:GQ:PL	0/1:43,7:50:29:29,0,990	16	0	2	1
chr4	10088370	10088370	A	G	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon4:c.T220C:p.Y74H,WDR1:NM_017491:exon7:c.T640C:p.Y214H	.	428	1093	1	0	0	1	0.000457247	.	.	.	1487848	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0390248057428	0.0007	0.000599042	0.0004	0.0022	0	0	0	0.0004	0	0	0.0001164	18	154602	rs115753948	9.404e-05	9.44e-05	0.0001	7.219e-05	0.0016	8.078e-05	7.602e-05	0.0013	0.0011	0.0016	0.0002	0.0004	0	0.0003	0	3.792e-05	0.0002	0	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0017	0.0015	0.0020	0	0.0001	0	0	0.0002	0	5.879e-05	0	0	0.001	0.91255	D	0.109	0.47581	T	0.854	0.47077	P	0.652	0.52532	P	0.233997	0.15857	N	0.621168	0.998949	0.21775	N	0.61	0.15665	N	0.23	0.59717	T	-3.12	0.65742	D	0.34	0.41261	-1.0020	0.29342	T	0.144	0.46732	T	10	0.019933134	0.00452	T	0.039025	0.58570	D	0.221	0.51721	.	.	0.269682111328	0.26585	0.23762488710161672	0.23676	0.538619484499	0.51112	0.632360637188	0.57480	T	0.34527	0.71368	T	-0.394106	0.02530	T	-0.374261	0.36393	T	0.13106428676359	0.15480	T	0.840116	0.53056	T	0.434064	0.63018	0.3532424	0.60888	0.434064	0.63018	0.3532424	0.60888	-4.106	0.25379	T	.	.	0.111	0.35077	B	.;.;.;.;.	.;.;.;.;.	3.853520	0.55833	23.7	0.99231166090363077	0.56214	0.94109	0.60139	D	AEFBCI	0.713291	0.66614	D	-0.478521996702497	0.22787	1.219122	-0.464583432747579	0.23136	1.260184	0.999999912560437	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.3	2.87	0.32523	5.096000	0.64369	2.502000	0.33033	-0.065000	0.16512	0.998000	0.41325	0.875000	0.27637	0.936000	0.47498	0.847:0.0:0.153:0.0	8.890	0.34589	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2397.33	185	chr4	10088370	.	A	G	2397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=930;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.599;SOR=0.902	GT:AD:DP:GQ:PL	0/1:92,93:185:99:2411,0,2164	18	0	1	0
chr4	37444695	37444695	G	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.G2707A:p.V903I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0130458586865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311275891	2.143e-06	2.052e-06	1.41e-06	2.897e-06	2.78e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.78e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.274	0.15823	T	0.508	0.10893	T	0.0	0.02946	B	0.001	0.04355	B	0.000095	0.51296	N	0.130387	0.998921	0.45696	D	1.2	0.30300	L	-1.4	0.80474	T	0.67	0.02263	N	0.083	0.05929	-0.6766	0.61529	T	0.288	0.65958	T	10	0.09633419	0.17271	T	0.013046	0.32145	T	0.199	0.48268	0.365	0.37199	0.110078149338	0.10416	0.24872569044042053	0.24786	.	.	0.431904315948	0.29468	T	0.001861	0.01280	T	-0.151952	0.28005	T	-0.456045	0.27030	T	0.516601383686066	0.33240	D	0.835616	0.50622	T	0.046789527	0.07891	0.07834608	0.17538	0.046789527	0.07891	0.07834608	0.17538	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	1.836139	0.23329	15.97	0.95572237084934275	0.27265	0.94538	0.61490	D	AEFBI	0.418969	0.48639	N	-0.190638691232296	0.33523	1.902847	0.00145308581159631	0.39782	2.364112	0.0111658389362755	0.12141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	3.8	0.42887	3.965000	0.56495	3.884000	0.40256	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2187:0.0:0.7813:0.0	11.025	0.46955	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002463	0.000000	0.000000	0.000000	0.000000	0.000000	0.011628	0.000000	0.02632	2273.33	182	chr4	37444695	.	G	A	2273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.92;DP=1112;ExcessHet=0;FS=2.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.33;SOR=0.507	GT:AD:DP:GQ:PL	0/1:106,76:182:99:2287,0,3020	18	0	1	0
chr4	38773195	38773195	C	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.G2396A:p.R799Q,TLR10:NM_001195106:exon3:c.G2396A:p.R799Q,TLR10:NM_001195107:exon3:c.G2396A:p.R799Q,TLR10:NM_001195108:exon3:c.G2354A:p.R785Q,TLR10:NM_030956:exon4:c.G2396A:p.R799Q	.	429	1047	46	0	0	46	0.0214953	.	.	.	2822487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00187015817586	0.0045	0.00339457	0.0048	0.0005	0.0047	0	0.0009	0.0060	0.0088	0.0080	0.0047735	738	154602	rs4129008	0.0035	0.0036	0.0033	0.0038	0.0134	0.0034	0.0034	0.0109	0.0100	0.0005	0.0040	0.0166	0	0.0007	0.0134	0.0031	0.0055	0.0084	0.0037	0.0037	0.0038	0.0036	0.0108	0.0034	0.0033	0.0084	0.0076	0.0004	0	0.0040	0.0173	0.0002	0.0002	0.0170	0.0050	0.0099	0.0108	0.287	0.15149	T	0.771	0.04461	T	0.007	0.14184	B	0.002	0.06944	B	0.263916	0.03727	N	1.716230	1	0.08975	N	1.245	0.31408	L	2.68	0.12371	T	-0.27	0.11366	N	0.066	0.07398	-0.9860	0.33590	T	0.014	0.05561	T	10	0.0044157505	0.00090	T	0.00187	0.03272	T	0.014	0.01968	.	.	0.18995819373	0.18626	0.1451211992874426	0.14435	0.0599924990014	0.06676	0.165198862553	0.00018	T	0.018991	0.15211	T	-0.679565	0.00048	T	-0.745059	0.03682	T	0.00263097535739466	0.00027	T	0.683132	0.29138	T	0.025159713	0.01423	0.028046945	0.01006	0.025159713	0.01423	0.028046945	0.01006	-3.703	0.19363	T	.	.	0.071	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.189900	0.03142	0.507	0.66708251931569984	0.08138	0.00969	0.03707	N	AEFBCI	0.042094	0.06485	N	-1.28919650298075	0.03804	0.1706082	-1.30982611816678	0.04303	0.2026425	0.173269479786867	0.17767	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	-1.62	0.07926	-0.865000	0.04358	-6.751000	0.01315	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.1917:0.2908:0.0:0.5175	5.535	0.16296	735	0.53711	.;.;.;.;.;.	.	.	.	.	rs4129008	Likely benign	0	0	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	0.015106	0.000000	0.013587	0.008772	0.050000	0.000000	0.036585	0.007576	0.02632	467.33	62	chr4	38773195	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=851;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.281;SOR=0.916	GT:AD:DP:GQ:PL	0/1:42,20:62:99:481,0,1031	18	0	1	0
chr4	38798661	38798661	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A171G:p.I57M	.	427	1079	16	0	0	16	0.00735971	.	.	.	698511	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.380	0.0357132146712	0.0035	0.00119808	0.0035	0.0004	0.0039	0	0.0006	0.0055	0.0055	0.0001	0.0033247	514	154602	rs145135062	0.0028	0.0028	0.0027	0.0029	0.0095	0.0027	0.0027	0.0075	0.0068	0.0005	0.0035	0.0120	0	0.0007	0.0095	0.0029	0.0042	0.0002	0.0029	0.0029	0.0031	0.0026	0.0045	0.0026	0.0026	0.0041	0.0039	0.0004	0	0.0035	0.0104	0	0.0002	0.0204	0.0045	0.0071	0.0002	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.998725	0.45339	D	3.195	0.89043	M	1.88	0.86283	T	-2.07	0.48354	N	0.501	0.53357	0.349	0.88316	D	0.705	0.89845	D	10	0.0070956647	0.00161	T	0.035713	0.56527	D	0.380	0.69780	.	.	0.784146221207	0.78214	0.16825757001338518	0.16745	0.33793397055	0.35772	0.451581150293	0.32160	T	0.369571	0.73426	T	-0.0951791	0.37222	T	0.0929785	0.76444	D	0.0858764497800101	0.10720	T	0.685431	0.29475	T	0.6318709	0.74398	0.2807124	0.54048	0.6318709	0.74399	0.2807124	0.54047	-7.76	0.59423	D	.	.	0.253	0.56285	B	.;.;.;.	.;.;.;.	2.724733	0.35650	19.95	0.99355563446310891	0.60779	0.67849	0.33583	D	AEBI	0.373836	0.45896	N	0.181313089332999	0.50301	3.221524	-0.0203718895559557	0.38795	2.29086	0.994903310702229	0.33856	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.93	2.39	0.28492	0.135000	0.15775	2.503000	0.33037	0.665000	0.62972	0.692000	0.28550	1.000000	0.68203	0.894000	0.43146	0.2551:0.0:0.2636:0.4813	5.971	0.18588	624	0.65661	.;.;.;.	.	.	.	.	.	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	0.009577	0.005102	0.006793	0.000000	0.050000	0.000000	0.024390	0.003788	0.02632	1891.33	139	chr4	38798661	.	T	C	1891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.516;DP=863;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.533;SOR=0.598	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1905,0,1781	18	0	1	0
chr4	41650504	41650504	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon7:c.G1279A:p.E427K,LIMCH1:NM_001330674:exon7:c.G1279A:p.E427K,LIMCH1:NM_001112719:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330793:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330982:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330983:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330786:exon10:c.G1300A:p.E434K,LIMCH1:NM_001289122:exon12:c.G1741A:p.E581K,LIMCH1:NM_001289124:exon12:c.G1264A:p.E422K,LIMCH1:NM_001330791:exon12:c.G1741A:p.E581K,LIMCH1:NM_001330792:exon12:c.G1741A:p.E581K,LIMCH1:NM_001112717:exon13:c.G1777A:p.E593K,LIMCH1:NM_001112718:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330784:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330787:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330788:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330789:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330790:exon13:c.G1777A:p.E593K,LIMCH1:NM_014988:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330672:exon18:c.G2932A:p.E978K	.	435	1085	2	0	0	2	0.00092081	.	.	.	2393742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.0152398181561	0.0017	0.00139776	0.0013	0.0005	0.0017	0	0.0005	0.0020	0.0011	6.098e-05	0.0014942	231	154602	rs147874816	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0004	0.0016	0.0010	0	0.0009	0.0010	0.0021	0.0016	3.478e-05	0.0013	0.0013	0.0015	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0002	0	0.0014	0.0009	0	0.0012	0	0.0022	0.0009	0	0.006	0.72154	D	0.341	0.29843	T	0.591	0.73220	P	0.312	0.79672	B	0.011462	0.29519	N	0.358823	0.997921	0.46608	D	1.995	0.54099	M	0.71	0.54347	T	-1.19	0.31576	N	0.403	0.59138	-0.5994	0.64842	T	0.268	0.63929	T	10	0.009541601	0.00215	T	0.01524	0.35857	T	0.136	0.36778	.	.	0.176862962021	0.17281	0.3495538446483543	0.34869	0.243072088921	0.26815	0.552832722664	0.46258	T	0.00342	0.13121	T	-0.327578	0.06297	T	-0.249178	0.49897	T	0.0167246995007057	0.00429	T	0.987301	0.95681	D	0.26577258	0.49647	0.19630434	0.43354	0.26577258	0.49646	0.19630434	0.43353	-6.614	0.59049	T	.	.	0.210	0.61254	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.890441	0.80292	27.3	0.99933985731639574	0.99535	0.98354	0.81929	D	AEFBI	0.761539	0.69922	D	0.634181752170145	0.75347	6.29015	0.647634485476778	0.78435	6.875635	0.999999996081647	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.11	5.11	0.69188	6.570000	0.73886	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.089	0.93200	725	0.54935	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1423.33	109	chr4	41650504	.	G	A	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.604;DP=746;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.039;SOR=1.014	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1437,0,1163	18	0	1	0
chr4	47576863	47576863	C	T	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon19:c.C3457T:p.L1153F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.136499709424	0.0002	0.000199681	6.589e-05	0	8.637e-05	0	0	8.99e-05	0	6.056e-05	5.82e-05	9	154602	rs145477523	3.352e-05	3.352e-05	2.586e-05	4.125e-05	0.0024	2.566e-05	2.312e-05	0.0015	0.0012	5.974e-05	6.708e-05	0	0	0	0.0024	1.978e-05	8.279e-05	3.478e-05	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0004	3.514e-05	2.614e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0.0034	2.94e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999407	0.46935	D	3.275	0.90144	M	-2.99	0.92108	D	-3.71	0.70674	D	0.81	0.80572	0.985	0.96945	D	0.892	0.96431	D	10	0.8348561	0.82643	D	0.137	0.81898	D	0.800	0.93464	.	.	0.957742206517	0.95729	0.46247105294128227	0.46165	0.63098757322	0.57071	0.635869979858	0.57978	T	0.034379	0.23298	T	0.143755	0.68681	D	0.150245	0.80200	D	0.830777656163627	0.48590	D	0.959904	0.84889	D	0.91366494	0.92639	0.8701889	0.92879	0.91366494	0.92640	0.8701889	0.92879	-10.754	0.78291	D	.	.	0.537	0.66242	A	.	.	4.926220	0.81178	27.5	0.99904168342078314	0.97502	0.96434	0.69120	D	AEFDBI	0.634927	0.61462	D	0.867136880359975	0.90061	10.236	0.807844451860769	0.90333	10.35992	0.999999843306595	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	6.109000	0.71203	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.918	0.88874	466	0.78352	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2228.33	229	chr4	47576863	.	C	T	2228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=868;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=1.2;SOR=0.79	GT:AD:DP:GQ:PL	0/1:134,95:229:99:2242,0,3286	18	0	1	0
chr4	48483578	48483578	A	G	exonic	SLC10A4	.	nonsynonymous SNV	SLC10A4:NM_152679:exon1:c.A17G:p.N6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.068626441312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.808	0.45299	P	0.084	0.29270	B	0.072816	0.02269	N	2.041000	0.999999	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-0.22	0.10480	N	0.184	0.19995	-0.9684	0.37530	T	0.022	0.09193	T	10	0.13664284	0.25996	T	0.068626	0.70502	D	0.106	0.30130	0.165	0.06955	0.0138822411134	0.00435	0.15320566409257572	0.15242	1.40337824593	0.85250	0.774938344955	0.78165	T	0.004944	0.04364	T	-0.248386	0.14297	T	-0.594566	0.13272	T	0.514887442453497	0.33177	D	0.629237	0.24427	T	0.18062896	0.39193	0.17880061	0.40572	0.18062896	0.39193	0.17880061	0.40571	-2.905	0.09193	T	.	.	0.067	0.02399	B	.	.	2.915662	0.38689	20.8	0.99451881720422675	0.65325	0.72870	0.35654	D	AEFDBHCI	0.081397	0.16469	N	-0.161335918926053	0.34753	1.987576	-0.163086454368273	0.32907	1.876937	0.999999999225489	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.87	3.87	0.43823	1.635000	0.36747	3.888000	0.40278	0.579000	0.29447	0.915000	0.31815	0.999000	0.35428	0.188000	0.21541	1.0:0.0:0.0:0.0	10.972	0.46658	211	0.91797	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	970.33	106	chr4	48483578	.	A	G	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=746;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.455;SOR=0.84	GT:AD:DP:GQ:PL	0/1:62,44:106:99:984,0,1514	18	0	1	0
chr4	48553248	48553248	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon36:c.A4402G:p.T1468A	.	435	1057	30	0	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0004	0.00159744	0.0038	0.0002	0.0009	0	0.0057	0.0011	0.0056	0.0202	0.0032147	497	154602	rs201826654	0.0022	0.0022	0.0016	0.0028	0.0198	0.0021	0.0021	0.0190	0.0187	0.0003	0.0005	0.0009	5.04e-05	0.0079	0.0092	0.0007	0.0021	0.0198	0.0016	0.0016	0.0011	0.0021	0.0126	0.0014	0.0014	0.0101	0.0092	0.0002	0	0.0007	0	0	0.0094	0.0034	0.0009	0.0009	0.0126	0.164	0.23360	T	0.253	0.23501	T	0.092	0.59044	B	0.065	0.72923	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.9	0.44461	T	-2.49	0.54217	N	0.491	0.52918	-0.9071	0.47203	T	0.185	0.53481	T	10	0.008763969	0.00198	T	.	.	.	0.180	0.45073	.	.	0.354648800996	0.35079	0.5675465522245963	0.56682	0.387626592147	0.40038	0.555667221546	0.46655	T	0.230074	0.59606	T	-0.219986	0.17994	T	-0.072514	0.65446	T	0.0774891752752781	0.09663	T	0.856014	0.54441	D	0.093174316	0.21878	0.14065778	0.33522	0.093174316	0.21878	0.14065778	0.33521	-3.88	0.22002	T	.	.	0.091	0.16538	B	.;.;.	.;.;.	3.154228	0.42713	21.6	0.98891657941019728	0.48019	0.96157	0.67794	D	AEFDBI	0.641293	0.61868	D	0.295643881416598	0.55927	3.756885	0.405890105144516	0.61932	4.400382	0.999999999901362	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.930000	0.69823	2.843000	0.35092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	16.609	0.84711	130	0.94779	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.004076	0.008772	0.000000	0.008621	0.015244	0.037879	0.02632	595.33	49	chr4	48553248	.	T	C	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.23;SOR=0.722	GT:AD:DP:GQ:PL	0/1:26,23:49:99:609,0,671	18	0	1	0
chr4	52744235	52744235	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1286T:p.P429L,ERVMER34-1:NM_024534:exon4:c.C1286T:p.P429L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0019	0.0008	0.0065	0	0.1667	0.0023	0.0057	0.0017	0.0006533	101	154602	rs141114710	0.0047	0.0042	0.0050	0.0045	0.0172	0.0046	0.0045	0.0139	0.0128	0.0009	0.0022	0.0006	6.23e-05	0.0292	0.0172	0.0036	0.0051	0.0021	0.0049	0.0049	0.0038	0.0060	0.0033	0.0046	0.0045	0.0029	0.0028	0.0007	0.1286	0.0022	0.0012	0.0006	0.0296	0.0170	0.0033	0.0047	0.0015	.	.	.	0.0	0.92824	D	0.016	0.17332	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	0.0032551587	0.00056	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.671597211123151	0.67097	.	.	0.207218885422	0.00699	T	4.57E-4	0.00158	T	-0.595423	0.00155	T	-0.624335	0.10848	T	.	.	.	0.533547	0.17787	T	0.018549057	0.00377	0.049285304	0.07500	0.018549057	0.00376	0.049285304	0.07500	-0.845	0.00843	T	.	.	0.136	0.32202	B	.;.	.;.	-0.934741	0.00869	0.031	0.65350738182465162	0.07748	0.00688	0.02942	N	AEFBCI	0.039389	0.05713	N	.	.	.	.	.	.	0.0022410180715896	0.09253	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	2.06	-4.06	0.03718	-1.959000	0.01609	-3.025000	0.03129	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2758:0.34:0.2134:0.1708	0.807	0.01016	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019231	0.019231	0.000000	0.024691	0.000000	0.000000	0.013699	0.015625	0.02632	2153.33	183	chr4	52744235	.	G	A	2153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=973;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.51;SOR=0.768	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2167,0,2515	18	0	1	0
chr4	54263765	54263765	G	A	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon4:c.G466A:p.E156K,PDGFRA:NM_001347829:exon4:c.G466A:p.E156K,PDGFRA:NM_001347830:exon4:c.G505A:p.E169K,PDGFRA:NM_006206:exon4:c.G466A:p.E156K,PDGFRA:NM_001347828:exon5:c.G541A:p.E181K	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	.	.	.	.	.	.	.	.	.	394377	not_provided|Hereditary_cancer-predisposing_syndrome|PDGFRA-related_disorder|Gastrointestinal_stromal_tumor	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00865720055286	.	.	0.0002	0	0.0009	0	0	5.994e-05	0	0.0008	0.0001746	27	154602	rs760631068	7.73e-05	7.798e-05	6.262e-05	9.213e-05	0.0008	6.533e-05	6.136e-05	0.0006	0.0006	2.987e-05	0.0006	0	2.519e-05	1.872e-05	0.0002	1.259e-05	6.623e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0010	8.174e-05	6.729e-05	0.0007	0.0005	0	0	0.0010	0	0	0	0	0	0.0005	0.0004	0.791	0.21224	T	0.69	0.27943	T	0.001	0.15535	B	0.001	0.12133	B	0.983834	0.08076	U	0.987864	1	0.08975	N	1.445	0.36358	L	1.76	0.32722	T	-0.63	0.18459	N	0.085	0.06587	-0.9878	0.33151	T	0.045	0.19518	T	10	0.014832288	0.00312	T	0.008657	0.22878	T	0.019	0.03383	0.391	0.41443	0.2338531098	0.23012	0.6030464888365247	0.60235	0.364123964793	0.38027	0.292812377214	0.09333	T	0.047079	0.27617	T	-0.578129	0.00198	T	-0.692374	0.06252	T	0.012592918795096	0.00210	T	0.735226	0.36032	T	0.04013194	0.05670	0.05756482	0.10487	0.04013194	0.05670	0.05756482	0.10486	-4.169	0.35168	T	.	.	0.064	0.03336	B	.;.;.;.	.;.;.;.	1.034731	0.14151	10.72	0.78978585744188612	0.12536	0.02995	0.07855	N	AEFDBIJ	0.082870	0.16784	N	-1.10280778133317	0.06593	0.3039381	-1.15415722853266	0.06693	0.3230525	0.99652693458894	0.34806	0.59774	0.34471	0	0.573888	0.26702	0	0.618467	0.43123	0	0.63947	0.58350	0	.	.	5.59	-2.17	0.06663	-0.168000	0.09914	0.479000	0.18787	-0.106000	0.15538	0.000000	0.06391	0.018000	0.20648	0.003000	0.05239	0.3301:0.3306:0.2595:0.0798	3.632	0.07678	470	0.78111	Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3296.33	282	chr4	54263765	.	G	A	3296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.717;DP=920;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.486;SOR=0.623	GT:AD:DP:GQ:PL	0/1:144,138:282:99:3310,0,3314	18	0	1	0
chr4	69008902	69008902	C	A	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon6:c.G518T:p.S173I	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00139776	0.0018	0.0004	0.0027	0	0.0006	0.0024	0.0055	0.0007	0.0015782	244	154602	rs199672784	0.0017	0.0017	0.0017	0.0017	0.0186	0.0017	0.0016	0.0157	0.0147	0.0019	0.0036	0.0058	0	0.0008	0.0186	0.0015	0.0034	0.0010	0.0020	0.0021	0.0019	0.0021	0.0058	0.0018	0.0018	0.0048	0.0044	0.0014	0	0.0058	0.0049	0	0.0009	0.0204	0.0017	0.0052	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	0.023697	0.036585	0.026027	0.039773	0.083333	0.017544	0.014184	0.003906	0.02632	5424.33	409	chr4	69008902	.	C	A	5424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=1030;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-1.335;QD=13.26;ReadPosRankSum=-0.821;SOR=0.673	GT:AD:DP:GQ:PL	0/1:193,216:409:99:5438,0,4655	18	0	1	0
chr4	74225394	74225394	G	-	exonic	MTHFD2L	.	frameshift deletion	MTHFD2L:NM_001144978:exon6:c.805delG:p.G269Vfs*5,MTHFD2L:NM_001004346:exon7:c.631delG:p.G211Vfs*5,MTHFD2L:NM_001351311:exon7:c.631delG:p.S212Lfs*33,MTHFD2L:NM_001351310:exon8:c.631delG:p.S212Lfs*33,MTHFD2L:NM_001351314:exon8:c.424delG:p.G142Vfs*5	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1236.29	95	chr4	74225393	.	AG	A	1236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=725;ExcessHet=0;FS=9.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=2.28;SOR=0.882	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1250,0,1732	18	0	1	0
chr4	75860692	75860692	C	G	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon17:c.G2237C:p.G746A	.	426	1094	1	1	0	3	0.00136924	.	.	.	2215346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.0128248922592	.	.	2.475e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs780494701	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0003	1.584e-05	1.356e-05	6.115e-05	2.53e-05	2.987e-05	0	0	0	0	0.0003	2.068e-05	6.624e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.018	0.17786	B	0.008	0.13708	B	0.345795	0.13893	N	0.673538	1	0.08975	N	0.805	0.20218	L	1.03	0.40469	T	-0.39	0.13611	N	0.08	0.05542	-1.0375	0.18078	T	0.049	0.20829	T	10	0.0638296	0.08374	T	0.012825	0.31723	T	0.011	0.01250	0.134	0.03833	0.431490205687	0.42766	0.3687120664806053	0.36785	0.159961595107	0.18046	0.22586004436	0.01676	T	0.029373	0.21062	T	-0.338112	0.05520	T	-0.626597	0.10673	T	0.048565502948419	0.05245	T	0.442056	0.12263	T	0.033027016	0.03441	0.037123803	0.03300	0.033027016	0.03441	0.037123803	0.03299	-3.429	0.15449	T	.	.	0.083	0.09094	B	.	.	-0.107350	0.03596	0.704	0.60440626071583536	0.06464	0.05460	0.11339	N	AEFDBI	0.059339	0.11202	N	-1.00539487300918	0.08492	0.3983292	-0.97314300293866	0.10390	0.5230406	0.246995485563577	0.18637	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.44	2.65	0.30588	-0.134000	0.10415	-1.373000	0.05593	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6346:0.1715:0.1939	5.051	0.13847	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1614.33	161	chr4	75860692	.	C	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.208;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.419;SOR=0.721	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1628,0,2320	18	0	1	0
chr4	78317467	78317467	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon17:c.G1919A:p.R640H,FRAS1:NM_025074:exon17:c.G1919A:p.R640H	Fraser syndrome, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0130682959591	8.1e-05	.	7.464e-05	0	8.667e-05	0	0	9.004e-05	0.0011	6.063e-05	5.82e-05	9	154602	rs373092006	4.242e-05	4.241e-05	4.085e-05	4.401e-05	0.0009	3.377e-05	3.065e-05	0.0003	0.0002	0.0004	6.711e-05	0	0	0	0.0009	2.429e-05	9.939e-05	0.0001	7.88e-05	7.874e-05	2.57e-05	0.0001	0.0002	4.494e-05	3.51e-05	3.762e-05	2.575e-05	9.627e-05	0	6.533e-05	0	0	0	0	8.819e-05	0	0.0002	0.174	0.22486	T	0.158	0.35330	T	.	.	.	.	.	.	0.796378	0.09358	N	0.918385	1	0.08975	N	0.645	0.16088	N	-1.01	0.76168	T	0.43	0.03297	N	0.105	0.08925	-0.9638	0.38448	T	0.208	0.56717	T	10	0.1006639	0.18346	T	0.013068	0.32181	T	0.101	0.28911	.	.	0.276482976112	0.27267	0.17133686971662213	0.17053	.	.	0.211243256927	0.00865	T	.	.	.	-0.271601	0.11579	T	-0.446385	0.28095	T	0.0220186255707071	0.00912	T	0.132987	0.01049	T	.	.	.	.	.	.	.	.	-2.969	0.09851	T	.	.	0.062	0.01290	B	.;.	.;.	-0.234541	0.02918	0.424	0.86107631961027309	0.16318	0.01408	0.04764	N	AEFBI	0.032500	0.03683	N	-1.5651566439413	0.01448	0.06317712	-1.61065986777185	0.01592	0.07218279	0.746044246894329	0.23286	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-4.77	0.02985	-2.121000	0.01409	-3.283000	0.02908	-1.670000	0.00801	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.4935:0.086:0.3337:0.0869	5.570	0.16476	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	931.33	82	chr4	78317467	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.002;SOR=0.738	GT:AD:DP:GQ:PL	0/1:45,37:82:99:945,0,1112	18	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	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	.	.	.	.	.	.	.	.	0.09375	90.12	65	chr4	83463512	.	C	T	90.12	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.418;DP=847;ExcessHet=0.3672;FS=158.539;InbreedingCoeff=-0.1287;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.423;SOR=7.978	GT:AD:DP:GQ:PL	0/1:46,19:65:7:7,0,610	13	0	3	3
chr4	87614857	87614857	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2195A:p.S732N	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	1017	504	1	0	0	1	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.158704414852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.149e-07	6.841e-07	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	0.945	0.53279	P	0.682	0.53531	P	.	.	.	.	0.983392	0.24888	N	1.905	0.50856	L	-2.3	0.87671	D	-0.89	0.24026	N	0.099	0.08088	-0.3296	0.74145	T	0.574	0.84612	D	9	0.17967817	0.33113	T	0.158704	0.83904	D	0.224	0.52174	0.288	0.24761	0.631234674197	0.62822	0.0011717635514484333	0.00108	.	.	.	.	.	0.07964	0.36175	T	-0.134436	0.30780	T	-0.430885	0.29835	T	0.0968378683112338	0.12005	T	0.446455	0.12522	T	0.13515247	0.31377	0.07257995	0.15676	0.13515247	0.31377	0.07257995	0.15675	-9.208	0.69025	D	.	.	.	.	.	.	.	0.840393	0.12120	8.672	0.51158725467984845	0.04512	0.05398	0.11265	N	AEFGBCI	0.036619	0.04908	N	-0.512925306006482	0.21660	1.151216	-0.77542835506181	0.15098	0.7923857	0.195288096958117	0.18051	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.07	1.07	0.19399	-0.052000	0.11821	0.625000	0.20170	-2.332000	0.00313	0.000000	0.06391	0.096000	0.22607	0.000000	0.00833	0.0:0.0:1.0:0.0	5.525	0.16241	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	68	chr4	87614857	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=781;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.463;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,32:68:99:839,0,889	18	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:87615730_ATAG_A:683,0,1161:87615730	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:87615730_ATAG_A:683,0,1161:87615730	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:87615730_ATAG_A:678,0,1217:87615730	5	3	10	1
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:87615730_ATAG_A:678,0,1217:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:87615730_ATAG_A:678,0,1217:87615730	7	7	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:779,0,1332:87615920	9	2	3	5
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:779,0,1332:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:779,0,1332:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:779,0,1332:87615920	6	2	3	8
chr4	87615974	87615974	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:779,0,1332:87615920	11	2	3	3
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	877.71	61	chr4	87616019	.	CAGCAGCAAT	*	877.71	.	AC=5;AF=0.179;AN=28;DP=392;ExcessHet=0.0295;FS=0.482;InbreedingCoeff=0.3156;MLEAC=6;MLEAF=0.214;MQ=50.45;QD=3.82;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:889,0,1455:87615920	10	1	3	5
chr4	87616046	87616046	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	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	839.57	61	chr4	87616046	.	C	*	839.57	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.517;DP=479;ExcessHet=0.0154;FS=1.009;InbreedingCoeff=0.3193;MLEAC=6;MLEAF=0.2;MQ=53.38;MQRankSum=-0.366;QD=3.62;ReadPosRankSum=-0.171;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:889,0,1455:87615920	11	1	3	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	848.5	61	chr4	87616061	.	T	*	848.5	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.914;DP=485;ExcessHet=0.0678;FS=0;InbreedingCoeff=0.1824;MLEAC=9;MLEAF=0.563;MQ=54.94;MQRankSum=0;QD=3.66;ReadPosRankSum=1.32;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:889,0,1455:87615920	4	1	3	11
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	802.61	61	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	*	802.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.732;DP=494;ExcessHet=0.0234;FS=0;InbreedingCoeff=0.1263;MLEAC=8;MLEAF=0.5;MQ=55.85;MQRankSum=0.137;QD=3.47;ReadPosRankSum=1.8;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:889,0,1455:87615920	4	1	3	11
chr4	88074923	88074923	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2634C:p.R878S	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.117150427752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.919	0.50927	P	0.324	0.41853	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.795	0.47270	L	-0.71	0.94260	T	-3.31	0.75776	D	0.572	0.72031	0.182	0.85604	D	0.695	0.89499	D	10	0.42900562	0.57366	T	0.11715	0.79684	D	0.580	0.83081	0.368	0.37687	0.909963269897	0.90906	0.5166367591930537	0.51586	0.497480275096	0.48245	0.722716212273	0.70442	T	0.675153	0.90401	D	0.25385	0.78959	D	0.126861	0.78686	D	0.970878064632416	0.69109	D	0.938806	0.77472	D	0.896837	0.91102	0.6834038	0.81389	0.896837	0.91103	0.6834038	0.81390	-8.895	0.67018	D	0.6920299610958898	0.76989	0.908	0.83281	P	.;.;.	.;.;.	3.508895	0.49129	22.7	0.99398677795618395	0.62702	0.90280	0.51331	D	AEFBI	0.459311	0.50997	N	0.113047022420986	0.47071	2.937997	0.0907906910271631	0.44084	2.697048	0.993910564295063	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.32	0.27895	0.055000	0.14112	-0.757000	0.07552	0.674000	0.70861	0.961000	0.33663	0.000000	0.08366	0.996000	0.76049	0.4372:0.0:0.5628:0.0	8.137	0.30223	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	669.77	152	chr4	88074923	.	G	C	669.77	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.65;DP=1418;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.1518;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=1.23;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:42:0|1:88074922_G_A:42,0,5291:88074922	12	0	3	4
chr4	88074924	88074924	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2635C:p.E879Q	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.112397220531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.473e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.019	0.59159	D	0.791	0.44643	P	0.272	0.39956	B	0.000009	0.62929	D	0.108957	0.999999	0.58761	D	0.97	0.24054	L	-0.38	0.92721	T	-1.72	0.50337	N	0.297	0.33578	0.520	0.90832	D	0.688	0.89209	D	10	0.3064313	0.48153	T	0.112397	0.79053	D	0.445	0.74727	0.236	0.16608	0.809187118209	0.80740	0.2323479368635527	0.23149	0.441181269079	0.44114	0.624371409416	0.56347	T	0.458108	0.79621	T	0.0415826	0.57252	T	-0.178046	0.56702	T	0.874872863292694	0.52474	D	0.941106	0.80823	D	0.5887539	0.72083	0.31472978	0.57463	0.5887539	0.72084	0.31472978	0.57462	-7.72	0.59147	D	0.4693575316286415	0.55010	0.334	0.55466	B	.;.;.	.;.;.	6.160708	0.94696	34	0.99806513379381534	0.89085	0.99479	0.96535	D	AEFBI	0.914687	0.87842	D	0.526904719780556	0.68688	5.251508	0.595493025066105	0.74617	6.167515	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	11.277000	0.91602	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	664.87	152	chr4	88074924	.	G	C	664.87	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.468;DP=1554;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.0876;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.74;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:42:0|1:88074922_G_A:42,0,5291:88074922	16	0	3	0
chr4	88074926	88074926	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2637C:p.E879D	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0132159678033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.11696	T	0.506	0.15988	T	0.001	0.07471	B	0.002	0.06944	B	0.000009	0.62929	D	0.108957	0.994276	0.42222	D	-0.175	0.04276	N	-0.12	0.91748	T	-0.39	0.23372	N	0.175	0.18784	-0.6676	0.61937	T	0.446	0.78240	T	10	0.06906125	0.09857	T	0.013216	0.32452	T	0.238	0.54217	0.264	0.20946	0.543338240752	0.53986	0.0943286253012517	0.09364	0.136679722396	0.15416	0.641091346741	0.58718	T	0.217668	0.58017	T	-0.0922547	0.37703	T	-0.370294	0.36854	T	0.343256384134293	0.26753	T	0.837116	0.53152	T	0.21597725	0.44044	0.06672414	0.13707	0.21597725	0.44044	0.06672414	0.13707	-3.285	0.13545	T	0.07235216256458038	0.02959	0.097	0.15832	B	.;.;.	.;.;.	1.362800	0.17722	13.33	0.97928484891759715	0.36935	0.81502	0.40892	D	AEFBI	0.180401	0.30771	N	-0.499784004579977	0.22087	1.176955	-0.347792612377083	0.26577	1.468931	0.98905284296543	0.31709	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	0.784	0.17723	0.433000	0.21196	0.778000	0.21455	0.674000	0.70861	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.3295:0.1252:0.4019:0.1434	1.682	0.02663	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	681.82	148	chr4	88074926	.	G	C	681.82	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.303;DP=1459;ExcessHet=0.3672;FS=149.221;InbreedingCoeff=-0.0864;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.09;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,16:148:54:0|1:88074922_G_A:54,0,5185:88074922	16	0	3	0
chr4	88074927	88074927	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2638C:p.V880L	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.186659707726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.297	0.20551	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	-0.18	0.91363	T	-1.05	0.31170	N	0.569	0.64903	0.598	0.91874	D	0.793	0.92976	D	10	0.531262	0.63196	D	0.18666	0.85889	D	0.495	0.78036	0.262	0.20631	0.749126465336	0.74686	0.3240488697657572	0.32317	0.182851890055	0.20557	0.781355142593	0.79132	T	0.241685	0.61027	T	0.210705	0.74897	D	0.064886	0.74569	D	0.883527338504791	0.53370	D	0.874113	0.58433	D	0.4644023	0.64945	0.31679553	0.57658	0.4644023	0.64946	0.31679553	0.57657	-6.43	0.49744	T	0.4873731798686394	0.56489	0.616	0.69546	P	.;.;.	.;.;.	4.222023	0.63864	24.6	0.99771217554887515	0.85918	0.99479	0.96535	D	AEFBI	0.920682	0.89303	D	0.741181393272166	0.82329	7.735918	0.739806151862471	0.85392	8.567346	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	8.008000	0.76178	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	690.46	116	chr4	88074927	.	G	C	690.46	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.365;DP=1500;ExcessHet=0.3672;FS=265.844;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.18;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,16:116:72:.:.:72,0,4923:.	9	0	3	7
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,51:165:99:.:.:102,0,1150:.	2	0	17	0
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	577.3	184	chr4	101196011	.	C	G	577.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.731;DP=2361;ExcessHet=0.7564;FS=238.355;InbreedingCoeff=-0.3579;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.57;SOR=10.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,48:184:99:.:.:169,0,2401:.	3	0	4	12
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.05263	2223.83	110	chr4	103123040	.	G	C	2223.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.29;DP=778;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.432;SOR=0.72	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1209,0,1485	17	0	2	0
chr4	113348297	113348297	C	A	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon15:c.C1921A:p.Q641K,ANK2:NM_001354280:exon15:c.C1942A:p.Q648K,ANK2:NM_001354281:exon15:c.C1921A:p.Q641K,ANK2:NM_001354279:exon16:c.C1957A:p.Q653K,ANK2:NM_001354282:exon16:c.C1957A:p.Q653K,ANK2:NM_001354277:exon33:c.C4009A:p.Q1337K,ANK2:NM_001354260:exon34:c.C4108A:p.Q1370K,ANK2:NM_001354268:exon34:c.C4195A:p.Q1399K,ANK2:NM_001354271:exon34:c.C4108A:p.Q1370K,ANK2:NM_001354273:exon34:c.C4093A:p.Q1365K,ANK2:NM_001354228:exon35:c.C4294A:p.Q1432K,ANK2:NM_001354245:exon35:c.C4231A:p.Q1411K,ANK2:NM_001354249:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354257:exon35:c.C4132A:p.Q1378K,ANK2:NM_001354258:exon35:c.C4294A:p.Q1432K,ANK2:NM_001354264:exon35:c.C4228A:p.Q1410K,ANK2:NM_001354266:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354267:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354269:exon35:c.C4180A:p.Q1394K,ANK2:NM_001354276:exon35:c.C4207A:p.Q1403K,ANK2:NM_001148:exon36:c.C4393A:p.Q1465K,ANK2:NM_001354236:exon36:c.C4291A:p.Q1431K,ANK2:NM_001354240:exon36:c.C4438A:p.Q1480K,ANK2:NM_001354253:exon36:c.C4168A:p.Q1390K,ANK2:NM_001354261:exon36:c.C4252A:p.Q1418K,ANK2:NM_001354262:exon36:c.C4231A:p.Q1411K,ANK2:NM_001354270:exon36:c.C4168A:p.Q1390K,ANK2:NM_001354275:exon36:c.C4231A:p.Q1411K,ANK2:NM_020977:exon36:c.C4393A:p.Q1465K,ANK2:NM_001354225:exon37:c.C4405A:p.Q1469K,ANK2:NM_001354230:exon37:c.C4372A:p.Q1458K,ANK2:NM_001354231:exon37:c.C4435A:p.Q1479K,ANK2:NM_001354232:exon37:c.C4429A:p.Q1477K,ANK2:NM_001354235:exon37:c.C4390A:p.Q1464K,ANK2:NM_001354241:exon37:c.C4438A:p.Q1480K,ANK2:NM_001354242:exon37:c.C4435A:p.Q1479K,ANK2:NM_001354243:exon37:c.C4330A:p.Q1444K,ANK2:NM_001354246:exon37:c.C4390A:p.Q1464K,ANK2:NM_001354255:exon37:c.C4330A:p.Q1444K,ANK2:NM_001354265:exon37:c.C4390A:p.Q1464K,ANK2:NM_001127493:exon38:c.C4366A:p.Q1456K,ANK2:NM_001354237:exon38:c.C4471A:p.Q1491K,ANK2:NM_001354244:exon38:c.C4327A:p.Q1443K,ANK2:NM_001354254:exon38:c.C4342A:p.Q1448K,ANK2:NM_001354256:exon38:c.C4327A:p.Q1443K,ANK2:NM_001354272:exon38:c.C4264A:p.Q1422K,ANK2:NM_001354239:exon39:c.C4363A:p.Q1455K,ANK2:NM_001354252:exon39:c.C4363A:p.Q1455K	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	509651	Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_specified	MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00923751917246	.	.	8.28e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs761254386	1.711e-05	1.71e-05	1.362e-05	2.064e-05	2.069e-05	1.174e-05	9.93e-06	1.378e-05	1.151e-05	0	0	0	0	0	0	2.069e-05	3.313e-05	0	6.576e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.229	0.32610	T	0.982	0.06762	T	0.001	0.22494	B	0.002	0.27757	B	0.001735	0.38161	N	0.116708	0.588124	0.32432	D	1.59	0.40313	L	1.74	0.26301	T	-1.82	0.51478	N	0.392	0.43320	-0.8825	0.49561	T	0.198	0.55329	T	10	0.2205421	0.38753	T	0.009238	0.24272	T	0.084	0.24469	.	.	0.458321483586	0.45457	0.14055917230354126	0.13978	0.764298165902	0.64412	0.578275799751	0.49843	T	0.282196	0.75725	T	-0.144433	0.29187	T	-0.381599	0.35536	T	0.425141662359238	0.29880	T	0.932107	0.81010	D	0.25256434	0.48273	0.21720687	0.46377	0.25256434	0.48273	0.21720687	0.46376	-3.821	0.51168	T	0.5068027275288153	0.58113	0.092	0.20508	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.891026	0.56615	23.8	0.98664577961719191	0.44386	0.98916	0.88583	D	AEFBI	0.822873	0.74310	D	0.416778125590419	0.62345	4.448849	0.513529298576373	0.68898	5.284196	0.999999888807073	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	5.811000	0.68860	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.800	0.96498	706	0.57215	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2113.33	182	chr4	113348297	.	C	A	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.83;SOR=0.688	GT:AD:DP:GQ:PL	0/1:87,95:182:99:2127,0,2021	18	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	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,18:96:58:0|1:140563137_C_G:58,0,2379:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,18:96:58:0|1:140563137_C_G:58,0,2379:140563137	1	0	18	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H,SH3D19:NM_001378122:exon2:c.G116A:p.R39H	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1229.33	94	chr4	151226083	.	C	T	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=724;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=2.2;SOR=0.588	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1243,0,1028	18	0	1	0
chr4	152770376	152770376	C	T	exonic	TIGD4	.	nonsynonymous SNV	TIGD4:NM_145720:exon2:c.G629A:p.C210Y	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00454715539605	0.0007	0.000599042	0.0010	0.0002	0.0004	0	0	0.0007	0.0033	0.0042	0.0009056	140	154602	rs139871778	0.0009	0.0009	0.0006	0.0011	0.0055	0.0008	0.0008	0.0051	0.0049	0.0003	0.0003	0	0	0	0.0050	0.0006	0.0008	0.0055	0.0005	0.0005	0.0005	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	7.213e-05	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0.0035	0.052	0.39097	T	0.7	0.05727	T	0.0	0.02946	B	0.002	0.06944	B	0.004761	0.33426	N	0.140441	0.732273	0.33732	D	1.15	0.29295	L	1.01	0.41058	T	-1.29	0.32387	N	0.122	0.11340	-1.0045	0.28607	T	0.072	0.29387	T	10	0.0074849427	0.00170	T	0.004547	0.11220	T	0.074	0.21613	.	.	0.17258766438	0.16869	0.521447656311776	0.52067	0.0239299429718	0.02427	0.58555328846	0.50868	T	0.013863	0.11911	T	-0.529666	0.00386	T	-0.532927	0.18995	T	0.0165530710946136	0.00417	T	0.668933	0.27772	T	0.22484085	0.45133	0.27387723	0.53311	0.22484085	0.45133	0.27387723	0.53310	-4.999	0.36829	T	.	.	0.244	0.47816	B	.	.	3.009436	0.40238	21.1	0.95841116343085175	0.27965	0.56844	0.30222	D	AEFBI	0.109532	0.21752	N	-0.271591532776732	0.30250	1.684948	-0.106650180999005	0.35120	2.028177	0.999944710502599	0.47345	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	5.7	2.91	0.32903	1.622000	0.36608	2.138000	0.30825	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.7699:0.0:0.2301	9.793	0.39887	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1243.33	132	chr4	152770376	.	C	T	1243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=832;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.385;SOR=0.623	GT:AD:DP:GQ:PL	0/1:79,53:132:99:1257,0,1946	18	0	1	0
chr4	153591128	153591128	G	T	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon17:c.G1746T:p.L582F,TMEM131L:NM_015196:exon17:c.G1743T:p.L581F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0143875497814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.806e-06	5.472e-05	5.466e-06	4.139e-06	2.542e-05	2e-06	1.29e-06	.	.	0	0	0	2.542e-05	7.598e-05	0	9.015e-07	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.141	0.33442	T	0.228	0.35185	B	0.081	0.36237	B	0.000017	0.62929	D	0.068177	0.997302	0.81001	D	2.38	0.68558	M	2.37	0.15964	T	-0.57	0.17210	N	0.519	0.54932	-1.0976	0.04394	T	0.038	0.16462	T	10	0.4452923	0.58357	T	0.014388	0.34475	T	0.178	0.44724	0.743	0.87486	0.043077524339	0.03247	0.5696554897554107	0.56893	0.352791717836	0.37101	0.470431864262	0.34740	T	0.010747	0.09672	T	-0.133169	0.30984	T	-0.429064	0.30040	T	0.747104108333588	0.43124	D	0.814918	0.46941	T	0.033668436	0.03633	0.041021567	0.04567	0.033668436	0.03633	0.041021567	0.04566	-8.332	0.63311	D	.	.	0.168	0.37063	B	.;.	.;.	2.787134	0.36630	20.3	0.98735801137146573	0.45422	0.75780	0.37121	D	AEFBI	0.069613	0.13787	N	-0.24784051371424	0.31190	1.746411	-0.16667053348835	0.32771	1.867784	0.995541972794768	0.34186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	2.96	0.33383	2.177000	0.42138	5.913000	0.51050	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.066:0.2396:0.4474:0.247	4.937	0.13297	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	.	.	.	.	.	.	.	.	0.02632	69.33	41	chr4	153591128	.	G	T	69.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.414;DP=654;ExcessHet=0;FS=50.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=-0.44;SOR=5.417	GT:AD:DP:GQ:PL	0/1:27,14:41:83:83,0,406	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,17:84:99:0|1:176711629_G_C:138,0,2572:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,17:84:99:0|1:176711629_G_C:138,0,2572:176711629	4	0	14	1
chr4	184678324	184678324	T	G	exonic	PRIMPOL	.	nonsynonymous SNV	PRIMPOL:NM_001345900:exon6:c.T412G:p.F138V,PRIMPOL:NM_001345901:exon6:c.T241G:p.F81V,PRIMPOL:NM_001300767:exon7:c.T550G:p.F184V,PRIMPOL:NM_001345894:exon7:c.T241G:p.F81V,PRIMPOL:NM_001345897:exon7:c.T241G:p.F81V,PRIMPOL:NM_001345898:exon7:c.T241G:p.F81V,PRIMPOL:NM_001300768:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345891:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345892:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345893:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345895:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345896:exon8:c.T937G:p.F313V,PRIMPOL:NM_152683:exon8:c.T937G:p.F313V	Myopia 22, autosomal dominant, Autosomal dominant	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00403633079854	.	.	2.591e-05	0	0	0.0001	0	0	0	0.0001	1.94e-05	3	154602	rs770004543	3.432e-06	3.42e-06	2.731e-06	4.14e-06	5.879e-05	1.01e-06	7.3e-07	2.218e-05	1.447e-05	0	0	0	0	0	0	0	0	5.879e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.05121	T	0.534	0.10536	T	0.003	0.11197	B	0.003	0.08700	B	0.074994	0.21250	N	0.549228	0.997611	0.22584	N	1.445	0.36358	L	1.63	0.28604	T	0.64	0.02368	N	0.107	0.12770	-1.0113	0.26510	T	0.049	0.20829	T	10	0.042134225	0.02934	T	0.004036	0.09587	T	0.042	0.11227	0.278	0.23164	0.143124449307	0.13826	0.24694023450914923	0.24608	0.0353957791626	0.03735	0.298074960709	0.10116	T	2.94E-4	0.00073	T	-0.322156	0.06723	T	-0.517141	0.20585	T	0.13532081246376	0.15865	T	0.737926	0.35508	T	0.13138714	0.30627	0.08894245	0.20769	0.13138714	0.30627	0.08894245	0.20769	-4.554	0.32260	T	0.130524012698752	0.13737	0.067	0.04640	B	.;.;.;.	.;.;.;.	0.027928	0.04477	1.192	0.99195929033294783	0.55112	0.17871	0.20023	N	AEI	0.084885	0.17206	N	-0.640006805920949	0.17751	0.9161174	-0.540949338931113	0.21046	1.136736	0.941044646536027	0.27459	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	4.74	0.59717	0.105000	0.15169	0.396000	0.17945	0.665000	0.62972	0.071000	0.22100	0.039000	0.21534	0.154000	0.20445	0.3634:0.0:0.1367:0.4999	6.307	0.20351	909	0.22467	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	976.33	77	chr4	184678324	.	T	G	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.76;SOR=0.739	GT:AD:DP:GQ:PL	0/1:34,43:77:99:990,0,666	18	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:106,31:137:99:387,0,2928	11	0	7	1
chr5	192358	192358	G	C	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G820C:p.E274Q	.	424	971	119	8	0	135	0.0649976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0031	0.0139776	0.0197	0.0027	0.0040	0	0.0015	0.0100	0.0147	0.0833	0.0091849	1420	154602	rs151096925	0.0083	0.0083	0.0066	0.0099	0.0566	0.0082	0.0081	0.0552	0.0547	0.0012	0.0024	0.0056	0.0001	0.0010	0.0310	0.0056	0.0090	0.0566	0.0056	0.0057	0.0048	0.0066	0.0590	0.0053	0.0052	0.0534	0.0512	0.0013	0	0.0042	0.0049	0.0012	0.0008	0.0136	0.0059	0.0095	0.0590	0.37	0.11550	T	0.44	0.13328	T	0.1	0.25713	B	0.035	0.22741	B	0.058988	0.22358	N	0.518188	0.976539	0.25368	N	2.3	0.65703	M	0.66	0.52416	T	0.7	0.02163	N	0.089	0.06720	-0.9792	0.35186	T	0.052	0.21921	T	10	0.002982378	0.00048	T	.	.	.	0.141	0.37795	.	.	.	.	0.33562876739353953	0.33475	0.235035843099	0.26031	0.359056323767	0.19249	T	0.001039	0.00564	T	-0.589253	0.00169	T	-0.578971	0.14636	T	0.0153130589139103	0.00339	T	0.70293	0.31283	T	0.06743472	0.14603	0.0495207	0.07586	0.06743472	0.14603	0.0495207	0.07585	-2.78	0.08000	T	.	.	0.103	0.18539	B	.	.	1.638414	0.20912	14.97	0.70957301943639306	0.09467	0.68563	0.33850	D	AEFDGBCI	0.192734	0.31988	N	-0.330350993789796	0.28000	1.540847	-0.176249790140483	0.32412	1.843757	0.999992054264738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	4.34	0.51267	3.683000	0.54396	6.321000	0.55444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.362000	0.25931	0.1424:0.2363:0.6213:0.0	4.376	0.10705	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015657	0.000000	0.012262	0.000000	0.000000	0.008621	0.030864	0.045802	0.02632	2830.33	210	chr5	192358	.	G	C	2830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=849;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.852;SOR=0.624	GT:AD:DP:GQ:PL	0/1:94,116:210:99:2844,0,2189	18	0	1	0
chr5	19571795	19571795	T	G	exonic	CDH18	.	nonsynonymous SNV	CDH18:NM_001167667:exon8:c.A1037C:p.N346T,CDH18:NM_001291957:exon8:c.A1037C:p.N346T,CDH18:NM_001349559:exon8:c.A1037C:p.N346T,CDH18:NM_001349560:exon8:c.A1037C:p.N346T,CDH18:NM_001349561:exon8:c.A1037C:p.N346T,CDH18:NM_004934:exon8:c.A1037C:p.N346T,CDH18:NM_001349556:exon9:c.A1037C:p.N346T,CDH18:NM_001349562:exon9:c.A368C:p.N123T,CDH18:NM_001349563:exon9:c.A368C:p.N123T,CDH18:NM_001291956:exon10:c.A1037C:p.N346T,CDH18:NM_001349558:exon11:c.A1037C:p.N346T	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00808449363578	0.0007	.	0.0006	0.0002	8.655e-05	0	0.0002	0.0009	0	0.0004	0.0005498	85	154602	rs150989071	0.0006	0.0006	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	0.0003	0.0005	0.0065	2.52e-05	0.0001	0.0035	0.0005	0.0011	0.0006	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0005	0.0007	0.0005	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0006	0.0014	0.0015	0.083	0.35918	T	0.202	0.27414	T	0.027	0.19556	B	0.038	0.23361	B	0.000002	0.62929	N	0.099811	0.998287	0.44722	D	-0.585	0.02270	N	0.89	0.45636	T	-1.63	0.39119	N	0.181	0.26596	-1.0940	0.04899	T	0.051	0.21844	T	9	0.014262378	0.00300	T	0.008084	0.21418	T	0.040	0.10527	.	.	0.602933245068	0.59976	0.2640124338119328	0.26314	0.127789886917	0.14414	0.653760254383	0.60520	T	0.071764	0.34288	T	-0.454016	0.01069	T	-0.532455	0.19043	T	0.280897378921509	0.24209	T	0.718928	0.33194	T	0.12301191	0.28893	0.15382247	0.36129	0.12301191	0.28893	0.15382247	0.36128	-6.571	0.51705	T	.	.	0.091	0.28290	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857260	0.37744	20.6	0.98749338834504785	0.45633	0.91655	0.53983	D	AEFI	0.548506	0.56176	D	-0.325614555395689	0.28179	1.552092	-0.114986403952836	0.34785	2.004899	0.0767323530381463	0.15737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.17	4.01	0.45821	2.671000	0.46507	4.312000	0.42972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.163:0.837	11.304	0.48559	894	0.26265	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.002924	0.000000	0.008621	0.003067	0.000000	0.05263	2987.83	125	chr5	19571795	.	T	G	2987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.873;DP=832;ExcessHet=0.119;FS=4.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.58;SOR=0.427	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1570,0,1664	17	0	2	0
chr5	31532427	31532427	G	C	exonic	C5orf22	.	nonsynonymous SNV	C5orf22:NM_018356:exon1:c.G35C:p.R12P	.	416	1082	24	0	0	24	0.0109689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0620573029481	0.0051	0.00219649	0.0056	0.0014	0.0026	0	0.0046	0.0074	0.0078	0.0063	0.0056015	866	154602	rs76256365	0.0070	0.0070	0.0069	0.0071	0.0079	0.0069	0.0068	0.0077	0.0077	0.0013	0.0032	0.0049	2.52e-05	0.0051	0.0061	0.0079	0.0056	0.0058	0.0051	0.0051	0.0051	0.0051	0.0084	0.0048	0.0047	0.0078	0.0076	0.0013	0	0.0033	0.0058	0.0002	0.0052	0	0.0084	0.0066	0.0039	0.003	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.050787	0.991333	0.81001	D	3.185	0.88900	M	0.87	0.46412	T	-2.74	0.65283	D	0.797	0.79310	-0.4646	0.69912	T	0.238	0.60535	T	10	0.009045869	0.00205	T	0.062057	0.68530	D	0.357	0.67782	.	.	0.739382427967	0.73704	0.8655327202119925	0.86518	0.60858133722	0.55629	.	.	.	0.088472	0.38165	T	-0.0499964	0.44447	T	0.162372	0.80950	D	0.0460952382670649	0.04800	T	0.748625	0.36937	T	0.7476154	0.80730	0.8569104	0.91970	0.7476154	0.80731	0.8569104	0.91970	-6.675	0.51622	T	.	.	0.772	0.76006	P	.;.	.;.	4.954457	0.81862	27.7	0.99719926348853904	0.81984	0.93541	0.58498	D	ALL	0.833727	0.75190	D	0.734912743438966	0.81922	7.636616	0.634517394254918	0.77462	6.684104	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.14	5.14	0.70008	6.659000	0.74258	11.814000	0.97026	0.676000	0.76740	0.901000	0.31451	1.000000	0.68203	0.305000	0.24618	0.0:0.0:1.0:0.0	16.927	0.86050	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	1422.33	139	chr5	31532427	.	G	C	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.864;DP=941;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.34;SOR=0.667	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1436,0,1564	18	0	1	0
chr5	39388315	39388315	T	C	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001343:exon9:c.A677G:p.N226S	.	434	1077	10	1	0	12	0.00554017	.	.	.	2693492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00415153768804	.	.	9.066e-05	0	8.639e-05	0.0008	0	0	0	0.0002	8.41e-05	13	154602	rs761105526	5.416e-05	5.473e-05	4.23e-05	6.613e-05	0.0007	4.42e-05	4.091e-05	0.0005	0.0004	0	4.505e-05	0	0.0007	0	0.0003	1.261e-05	9.958e-05	0.0003	3.283e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0004	0.506	0.09776	T	0.848	0.04302	T	0.0	0.02946	B	0.003	0.08700	B	0.000075	0.52346	N	0.228671	1	0.81001	D	1.845	0.48678	L	1.37	0.36146	T	-0.77	0.27876	N	0.122	0.15469	-1.0805	0.07252	T	0.054	0.22959	T	10	0.047252774	0.04019	T	0.004152	0.09963	T	0.059	0.16972	0.202	0.11659	0.503707123301	0.50008	0.08634192106977362	0.08568	0.0571399404724	0.06324	0.303436338902	0.10915	T	0.321357	0.69246	T	-0.521792	0.00430	T	-0.644564	0.09340	T	0.047084754981935	0.04980	T	0.89891	0.64583	D	0.07570789	0.17075	0.05499572	0.09565	0.07570789	0.17074	0.05499572	0.09564	-2.502	0.06949	T	.	.	0.069	0.09868	B	.;.	.;.	1.890387	0.24013	16.24	0.90489921094194614	0.19747	0.86912	0.46301	D	AEBI	0.602121	0.59410	D	-0.266018949131415	0.30470	1.699239	-0.0456226800593439	0.37680	2.209533	0.999999138534205	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	6.17	5.03	0.67015	3.257000	0.51201	2.890000	0.35384	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1614:0.0:0.8386	9.107	0.35865	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1704.33	159	chr5	39388315	.	T	C	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.64;DP=786;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.38;SOR=0.586	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1718,0,1857	18	0	1	0
chr5	57262616	57262616	A	G	exonic	GPBP1	.	nonsynonymous SNV	GPBP1:NM_001127236:exon11:c.A1307G:p.K436R,GPBP1:NM_001203246:exon11:c.A773G:p.K258R,GPBP1:NM_001127235:exon12:c.A1262G:p.K421R,GPBP1:NM_022913:exon12:c.A1286G:p.K429R,GPBP1:NM_001331037:exon13:c.A1346G:p.K449R	.	441	1076	4	1	0	6	0.00278035	.	.	.	2761908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0150915459987	.	0.000199681	0.0003	0	0.0003	0	0	0.0004	0.0033	0	0.0002264	35	154602	rs199892864	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0002	0.0054	0.0048	0.0002	0.0006	0.0004	0	0	0.0071	0.0002	0.0008	8.121e-05	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	0.0002	0	0.0008	0.0003	0	0	0.0034	0.0004	0.0005	0.0002	0.187	0.22660	T	0.224	0.25591	T	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	N	0.085770	0.806175	0.39932	D	1.575	0.39704	L	0.83	0.47815	T	-1.72	0.41239	N	0.316	0.43803	-0.7084	0.60031	T	0.191	0.54345	T	10	0.079953104	0.12923	T	0.015092	0.35618	T	0.192	0.47115	.	.	0.174091166621	0.17034	0.15034504841661608	0.14956	1.00011522387	0.74376	0.788703083992	0.80246	T	0.033389	0.22893	T	-0.380388	0.03099	T	-0.425597	0.30436	T	0.0595644312992923	0.07099	T	0.860114	0.55285	D	0.12948577	0.30241	0.16011953	0.37309	0.12948577	0.30241	0.16011953	0.37308	-4.152	0.26053	T	.	.	0.095	0.15788	B	.;.;.;.;.	.;.;.;.;.	3.815248	0.55051	23.6	0.9971177772355555	0.81423	0.93406	0.58132	D	AEDBI	0.653901	0.62677	D	0.141430827531353	0.48405	3.053323	0.222608187739507	0.51105	3.29591	0.999999782491201	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.92	0.64147	4.763000	0.61953	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9293:0.0:0.0707:0.0	10.888	0.46187	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005102	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1822.33	146	chr5	57262616	.	A	G	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=769;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.816;SOR=0.937	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1836,0,1566	18	0	1	0
chr5	73052418	73052418	A	C	exonic	FCHO2	.	nonsynonymous SNV	FCHO2:NM_001146032:exon12:c.A985C:p.M329L,FCHO2:NM_138782:exon13:c.A1084C:p.M362L	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00285637189212	0.0002	0.000399361	0.0006	0.0003	0.0024	0	0	0.0007	0.0036	0	0.0004204	65	154602	rs202229490	0.0003	0.0003	0.0002	0.0003	0.0080	0.0002	0.0002	0.0062	0.0055	0.0007	0.0015	0.0009	0	3.775e-05	0.0080	0.0002	0.0006	4.761e-05	0.0005	0.0005	0.0003	0.0006	0.0024	0.0004	0.0003	0.0018	0.0016	0.0002	0	0.0024	0.0009	0	0	0.0068	0.0002	0.0009	0.0002	1.0	0.00964	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.481726	0.12158	N	0.771058	0.999936	0.19363	N	-0.895	0.01383	N	2.36	0.16089	T	0.46	0.03140	N	0.154	0.22998	-0.9552	0.40060	T	0.008	0.02760	T	10	0.0061107874	0.00137	T	0.002856	0.05986	T	0.096	0.27654	0.303	0.27164	0.082315109003	0.07666	0.08962070797824606	0.08895	0.226845316457	0.25228	0.361301541328	0.19575	T	2.68E-4	0.00060	T	-0.575429	0.00205	T	-0.62942	0.10459	T	0.00484235709775893	0.00052	T	0.877512	0.59164	D	0.041036353	0.05968	0.06654025	0.13643	0.041036353	0.05967	0.06654025	0.13643	-1.826	0.04577	T	.	.	0.088	0.19032	B	.;.	.;.	1.021527	0.14010	10.58	0.70149733670909031	0.09202	0.53716	0.29439	D	AEFBI	0.136445	0.25711	N	-1.13310169336058	0.06062	0.278079	-0.97195350320851	0.10418	0.5245864	1.5216490024578E-4	0.05650	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.47	-4.68	0.03070	0.117000	0.15414	-0.536000	0.08609	0.750000	0.87069	0.952000	0.33172	0.000000	0.08366	0.998000	0.85391	0.2784:0.0:0.7216:0.0	16.554	0.84329	854	0.34840	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.014946	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2568.33	193	chr5	73052418	.	A	C	2568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.203;DP=831;ExcessHet=0;FS=4.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.09;SOR=0.921	GT:AD:DP:GQ:PL	0/1:84,109:193:99:2582,0,1807	18	0	1	0
chr5	83539713	83539713	C	T	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.C3749T:p.P1250L,VCAN:NM_004385:exon8:c.C6710T:p.P2237L	Wagner syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1375974	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0192579653006	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs778668390	8.896e-06	8.893e-06	8.17e-06	9.629e-06	2.987e-05	4.96e-06	3.83e-06	4.55e-06	3.32e-06	2.987e-05	2.238e-05	0	0	0	0	8.993e-06	1.656e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.013	0.63109	D	0.14	0.30243	B	0.019	0.24114	B	0.326842	0.14179	N	0.676716	0.99999	0.08975	N	1.81	0.47622	L	1.48	0.31731	T	-2.58	0.59389	D	0.126	0.11912	-1.0204	0.23584	T	0.062	0.25708	T	10	0.062107623	0.07889	T	0.019258	0.41574	T	0.027	0.05988	0.297	0.26202	0.128874641272	0.12493	0.29398655005097624	0.29311	0.0908748881395	0.10259	0.291515260935	0.09142	T	0.570414	0.85766	D	-0.216729	0.18442	T	-0.549092	0.17414	T	0.175750508904457	0.18963	T	0.684832	0.29327	T	0.047316223	0.08068	0.060001582	0.11357	0.047316223	0.08068	0.060001582	0.11356	-3.111	0.11656	T	.	.	0.103	0.18497	B	.;.	.;.	1.477524	0.19022	14.05	0.9895368596622518	0.49189	0.10143	0.15730	N	AEFBI	0.096856	0.19545	N	-0.794706131064358	0.13446	0.6625123	-0.82518672020895	0.13886	0.7227197	0.999908719018269	0.45458	0.706548	0.73137	0	0.624146	0.53433	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.93	3.14	0.35196	0.641000	0.24411	0.689000	0.20746	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2685:0.5958:0.0:0.1357	6.362	0.20640	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	.	.	.	.	.	.	.	.	0.02632	2370.33	170	chr5	83539713	.	C	T	2370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=1695;ExcessHet=0;FS=7.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.751;SOR=0.881	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2384,0,2105	18	0	1	0
chr5	90635237	90635237	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon10:c.C1963T:p.L655F	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0491151496643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.173	0.30143	T	0.716	0.42206	P	0.155	0.34417	B	0.024389	0.26271	N	0.427868	0.993925	0.23621	N	.	.	.	1.57	0.29342	T	-1.21	0.30762	N	0.045	0.01740	-0.9620	0.38800	T	0.151	0.47997	T	10	0.15350679	0.28974	T	0.049115	0.63672	D	0.053	0.14996	0.466	0.53729	0.34854441366	0.34469	0.45116344997794294	0.45034	0.0809948497444	0.09117	0.253761529922	0.04174	T	0.123302	0.44758	T	-0.232181	0.16362	T	-0.571289	0.15331	T	0.248890489339828	0.22823	T	0.845715	0.52486	T	0.06410902	0.13569	0.07240352	0.15617	0.06410902	0.13568	0.07240352	0.15617	-4.781	0.34369	T	.	.	0.098	0.16099	B	.;.	.;.	0.856573	0.12288	8.830	0.99022981315763647	0.50613	0.69281	0.34126	D	AEFBI	0.243648	0.36489	N	-0.356463562854126	0.27035	1.480166	-0.366999757770746	0.25988	1.432621	0.999791582757057	0.43153	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	4.77	-2.26	0.06478	1.096000	0.30587	-0.326000	0.09927	-0.174000	0.10959	0.891000	0.31220	0.002000	0.18203	0.991000	0.66497	0.5583:0.3712:0.0705:0.0	9.739	0.39575	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	.	.	.	.	.	.	.	.	0.02632	1099.33	85	chr5	90635237	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.723;SOR=0.784	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1113,0,812	18	0	1	0
chr5	90840983	90840983	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon78:c.A17017G:p.K5673E	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1509	4	0	6	10	0.00132363	0.0007	0.01	.	55453	Usher_syndrome_type_2C|not_specified|ADGRV1-related_disorder|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0163956375375	0.0030	0.00139776	0.0041	0.0008	0.0006	0	0.0034	0.0063	0.0013	0.0004	0.0037322	577	154602	rs41303350	0.0045	0.0041	0.0044	0.0045	0.0051	0.0044	0.0043	0.0050	0.0050	0.0007	0.0007	0.0003	0	0.0033	0.0014	0.0051	0.0035	0.0004	0.0025	0.0025	0.0027	0.0023	0.0041	0.0023	0.0022	0.0037	0.0036	0.0009	0.0154	0.0008	0	0	0.0027	0.0034	0.0041	0.0038	0.0002	0.007	0.59928	D	0.008	0.67890	D	0.748	0.43202	P	0.283	0.40424	B	0.000000	0.84330	D	0.043616	0.917929	0.58761	D	.	.	.	1.5	0.31205	T	-1.48	0.36189	N	0.508	0.53972	-1.1004	0.04043	T	0.061	0.25419	T	9	0.0072719157	0.00166	T	0.016396	0.37638	T	0.127	0.34888	.	.	0.513394077459	0.50981	0.5898357426813906	0.58913	0.0612328423319	0.06815	0.405425190926	0.25823	T	0.190961	0.54566	T	-0.385664	0.02868	T	-0.321629	0.42396	T	0.0297975966168295	0.01957	T	0.739226	0.35772	T	0.34510022	0.56683	0.30315155	0.56346	0.3885339	0.59928	0.26803628	0.52667	-4.486	0.30705	T	.	.	0.140	0.39305	B	.;.;.	.;.;.	1.796948	0.22840	15.78	0.93964635307594979	0.24035	0.98566	0.84167	D	AEFI	0.484203	0.52432	N	-0.0536252328990798	0.39441	2.325889	-0.00818527401407515	0.39343	2.331329	0.0104997150042087	0.12034	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.8	4.64	0.57399	4.002000	0.56766	6.020000	0.52779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.8522:0.1478:0.0:0.0	12.834	0.57150	711	0.56613	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	705.33	52	chr5	90840983	.	A	G	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=675;ExcessHet=0;FS=1.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.101;SOR=1.002	GT:AD:DP:GQ:PL	0/1:25,27:52:99:719,0,658	18	0	1	0
chr5	96412378	96412381	CCCA	-	exonic	PCSK1	.	frameshift deletion	PCSK1:NM_000439:exon7:c.819_822del:p.D273Efs*10,PCSK1:NM_001177875:exon7:c.678_681del:p.D226Efs*10	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.29	140	chr5	96412377	.	TCCCA	T	36.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.687;DP=936;ExcessHet=0;FS=66.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.421;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,21:140:50:0|1:96412377_TCCCA_T:50,0,4577:96412377	18	0	1	0
chr5	96412380	96412380	C	0	exonic	PCSK1	.	.	.	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	131.28	137	chr5	96412380	.	C	*	131.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.749;DP=1302;ExcessHet=0.119;FS=203.146;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.851;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,21:137:99:1|0:96412377_TCCCA_T:230,0,4422:96412377	16	0	1	2
chr5	96412381	96412381	-	TTTG	exonic	PCSK1	.	frameshift insertion	PCSK1:NM_000439:exon7:c.818_819insCAAA:p.G274Kfs*17,PCSK1:NM_001177875:exon7:c.677_678insCAAA:p.G227Kfs*17	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	231.0	140	chr5	96412381	.	A	ATTTG	231.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.968;DP=1161;ExcessHet=0.119;FS=164.502;InbreedingCoeff=-0.081;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.35;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,21:140:50:0|1:96412377_TCCCA_T:50,0,4577:96412377	17	0	1	1
chr5	96412383	96412383	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G817A:p.D273N,PCSK1:NM_001177875:exon7:c.G676A:p.D226N	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.113724135385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.044	0.53072	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-1.5	0.81318	D	-4.57	0.78721	D	0.847	0.89242	0.289	0.87380	D	0.637	0.87313	D	10	0.8905066	0.88391	D	0.113724	0.79233	D	0.617	0.85091	0.663	0.80098	0.870228692775	0.86897	0.8171215849865758	0.81668	0.918288061537	0.71338	0.902075827122	0.96667	D	0.802474	0.94978	D	0.0055843	0.52422	T	-0.229755	0.51796	T	0.989461362361908	0.79699	D	0.964704	0.86917	D	0.6820582	0.77080	0.52570033	0.72597	0.6820582	0.77081	0.52570033	0.72598	-7.888	0.60305	D	.	.	0.753	0.75179	P	.;.	.;.	5.187297	0.86995	29.1	0.99933246476351179	0.99488	0.97918	0.78116	D	AEFDBI	0.950003	0.96321	D	0.795554434066665	0.85827	8.693839	0.794888678044383	0.89436	9.974031	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.33	140	chr5	96412383	.	C	T	36.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.395;DP=879;ExcessHet=0;FS=66.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.835;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,21:140:50:0|1:96412377_TCCCA_T:50,0,4577:96412377	18	0	1	0
chr5	109378222	109378222	T	C	exonic	PJA2	.	nonsynonymous SNV	PJA2:NM_014819:exon4:c.A1265G:p.Y422C	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00622143719245	0.0006	0.000399361	0.0009	0.0006	0.0003	0.0053	0	0.0007	0	0.0004	0.0008603	133	154602	rs148020133	0.0012	0.0012	0.0011	0.0012	0.0031	0.0011	0.0011	0.0026	0.0025	0.0003	0.0002	0	0.0031	3.754e-05	0.0009	0.0013	0.0008	0.0004	0.0007	0.0007	0.0007	0.0007	0.0048	0.0006	0.0006	0.0034	0.0029	0.0005	0	6.535e-05	0	0.0048	0	0	0.0008	0.0019	0.0002	0.14	0.25664	T	0.23	0.25135	T	0.001	0.07471	B	0.005	0.11217	B	0.016627	0.27927	N	0.304838	1	0.08975	N	1.04	0.26193	L	3.35	0.05989	T	-0.26	0.11185	N	0.236	0.27197	-0.9657	0.38073	T	0.009	0.03227	T	10	0.006773114	0.00154	T	0.006221	0.16317	T	0.179	0.44899	.	.	0.261217442401	0.25729	0.027090847211391687	0.02659	0.0408557262819	0.04386	0.543992757797	0.45009	T	0.042142	0.26088	T	-0.440423	0.01286	T	-0.400286	0.33352	T	0.0117555977532498	0.00181	T	0.732927	0.34859	T	0.05494483	0.10612	0.0514959	0.08300	0.05494483	0.10611	0.0514959	0.08300	-4.419	0.29813	T	.	.	0.106	0.21390	B	.;.	.;.	2.528330	0.32681	19.12	0.99332621939394594	0.59856	0.69411	0.34177	D	AEFBI	0.087979	0.17836	N	-0.374724712232961	0.26373	1.438827	-0.214090230123979	0.31030	1.75232	0.778460600835065	0.23795	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	2.9	0.32809	0.950000	0.28720	3.121000	0.36400	0.660000	0.55035	0.985000	0.35982	0.999000	0.35428	1.000000	0.97212	0.2218:0.0:0.1692:0.609	6.599	0.21881	943	0.12886	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	855.33	63	chr5	109378222	.	T	C	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=689;ExcessHet=0;FS=4.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.67;SOR=0.317	GT:AD:DP:GQ:PL	0/1:30,33:63:99:869,0,835	18	0	1	0
chr5	111106140	111106140	G	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon11:c.G1177A:p.A393T	Glaucoma 1, open angle, G	3	1469	49	1	0	51	0.0170626	.	.	.	16621	not_provided|Usher_syndrome_type_2C|Glaucoma_1,_open_angle,_G|WDR36-related_disorder	MedGen:C3661900|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C1835933,OMIM:609887|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.257	.	0.0035	0.0103834	0.0085	0.0009	0.0024	0	0.0008	0.0049	0.0077	0.0396	0.0077877	1204	154602	rs35703638	0.0063	0.0063	0.0052	0.0074	0.0396	0.0062	0.0061	0.0384	0.0380	0.0009	0.0021	0.0185	2.529e-05	0.0010	0.0190	0.0041	0.0072	0.0396	0.0046	0.0046	0.0040	0.0052	0.0421	0.0043	0.0042	0.0374	0.0355	0.0007	0	0.0040	0.0191	0.0004	0.0008	0.0068	0.0045	0.0071	0.0421	.	.	.	0.172	0.31427	T	0.717	0.42239	P	0.162	0.34839	B	0.000000	0.84330	D	0.053679	0.981453	0.42740	A	1.065	0.27018	L	-0.22	0.66474	T	-1.01	0.26639	N	0.225	0.25253	-0.5319	0.67469	T	0.134	0.44700	T	9	0.0058906674	0.00132	T	.	.	.	0.257	0.56827	.	.	0.918932208345	0.91811	0.3555309418206018	0.35467	0.0296278266116	0.03046	0.437898874283	0.30291	T	0.111246	0.42658	T	-0.192804	0.21846	T	-0.0204496	0.68999	D	0.00514807261636098	0.00056	T	0.850115	0.53348	D	0.521217	0.68329	0.3595118	0.61409	0.5670011	0.70896	0.32784036	0.58677	-5.778	0.44382	T	0.15303880024046368	0.18173	0.116	0.26978	B	.;.;.	.;.;.	3.060918	0.41109	21.3	0.99769962277605184	0.85834	0.92968	0.56993	D	AEFBI	0.222266	0.34678	N	0.266451796840912	0.54457	3.611202	0.373573685898376	0.59941	4.176374	0.998851764279735	0.37823	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	4.81	0.61401	2.251000	0.42840	7.308000	0.58115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.743:0.257	11.193	0.47921	893	0.26510	WD40-repeat-containing domain;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	0	0	1	0	0.011078	0.000000	0.005435	0.005848	0.000000	0.017241	0.009146	0.026515	0.02632	1127.33	126	chr5	111106140	.	G	A	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=743;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.064;SOR=0.592	GT:AD:DP:GQ:PL	0/1:69,55:126:99:1141,0,1563	18	0	1	0
chr5	112145926	112145926	C	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon23:c.G2005T:p.V669F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0010	0	0	0	0.0006	0.0017	0	0.0009	0.0004851	75	154602	rs141453257	0.0019	0.0009	0.0020	0.0018	0.0029	0.0017	0.0017	0.0027	0.0026	0.0005	0.0005	0	0	0.0013	0.0004	0.0029	0.0019	0.0006	0.0018	0.0018	0.0018	0.0017	0.0031	0.0016	0.0015	0.0028	0.0026	0.0006	0	0.0007	0	0	0.0017	0	0.0031	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1263.33	107	chr5	112145926	.	C	A	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.194;DP=911;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.315;SOR=0.58	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1277,0,1150	18	0	1	0
chr5	113433765	113433765	G	T	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.C1075A:p.Q359K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00483209450223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	1.0	0.01155	T	0.011	0.15914	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.25	0.67011	T	-0.27	0.11366	N	0.101	0.08366	-1.0405	0.17162	T	0.101	0.37493	T	9	0.07807228	0.12399	T	0.004832	0.12098	T	0.027	0.05988	0.214	0.13354	0.381239546501	0.37731	0.21532247645173763	0.21448	0.121863456841	0.13733	0.310176283121	0.11933	T	0.050064	0.28489	T	-0.190111	0.22243	T	-0.510858	0.21228	T	0.0511216702483089	0.05696	T	0.427957	0.11563	T	0.080919705	0.18568	0.051159296	0.08179	0.080919705	0.18568	0.051159296	0.08178	-4.26	0.27612	T	.	.	0.073	0.04723	B	.	.	0.233057	0.06140	2.587	0.58159859203766029	0.05930	0.00863	0.03429	N	AEFDBI	0.046750	0.07797	N	-1.25221566691543	0.04270	0.1924086	-1.32814827081108	0.04070	0.1912241	0.0182689497171804	0.13039	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.9	-0.218	0.12495	0.070000	0.14440	1.799000	0.28866	0.373000	0.20310	0.000000	0.06391	0.021000	0.20819	0.003000	0.05239	0.4381:0.0:0.5618:0.0	2.705	0.04840	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	795.33	54	chr5	113433765	.	G	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.589;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.104;SOR=0.625	GT:AD:DP:GQ:PL	0/1:25,29:54:99:809,0,640	18	0	1	0
chr5	120686311	120686311	T	C	exonic	PRR16	.	nonsynonymous SNV	PRR16:NM_001300783:exon2:c.T517C:p.C173R,PRR16:NM_001308087:exon2:c.T307C:p.C103R,PRR16:NM_016644:exon3:c.T448C:p.C150R,PRR16:NM_001308088:exon4:c.T307C:p.C103R	.	427	1062	29	4	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00279553	0.0061	0.0012	0.0012	0	0.0033	0.0072	0.0044	0.0124	0.0061772	955	154602	rs140122947	0.0070	0.0070	0.0067	0.0073	0.0120	0.0069	0.0068	0.0114	0.0111	0.0012	0.0021	0.0005	0	0.0034	0.0085	0.0076	0.0058	0.0120	0.0046	0.0046	0.0045	0.0048	0.0143	0.0044	0.0042	0.0116	0.0106	0.0011	0.0121	0.0017	0	0	0.0033	0	0.0076	0.0019	0.0143	0.112	0.72154	T	0.1	0.62352	T	0.226	0.51395	B	0.176	0.46637	B	0.001764	0.38052	N	0.299816	0.999936	0.51612	D	.	.	.	1.0	0.41392	T	-1.92	0.98623	N	0.622	0.74462	-1.0460	0.15534	T	0.081	0.32031	T	9	0.0052689016	0.00115	T	.	.	.	0.128	0.35103	.	.	0.151262610727	0.14761	0.36927414502325967	0.36841	0.18308332438	0.20593	0.5204205513	0.41685	T	0.01708	0.13999	T	-0.393105	0.02568	T	-0.325768	0.41940	T	0.0148276194393841	0.00312	T	0.70113	0.32527	T	0.40580052	0.61133	0.38640827	0.63534	0.3717633	0.58715	0.38640827	0.63533	-2.095	0.03562	T	.	.	0.162	0.45954	B	.;.;.;.;.	.;.;.;.;.	3.443358	0.47909	22.5	0.98893923286780816	0.48055	0.98157	0.80093	D	AEFBI	0.779133	0.71143	D	0.214393683978546	0.51896	3.367477	0.30526535416505	0.55848	3.747679	0.999683871102299	0.41756	0.638212	0.43195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	3.413000	0.52440	1.197000	0.24809	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1627:0.8373	10.498	0.43978	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.002717	0.002924	0.000000	0.025862	0.009146	0.034091	0.02632	2346.33	197	chr5	120686311	.	T	C	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.745;DP=1000;ExcessHet=0;FS=3.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.376;SOR=0.752	GT:AD:DP:GQ:PL	0/1:105,92:197:99:2360,0,2924	18	0	1	0
chr5	122450940	122450940	G	A	exonic	SNCAIP	.	nonsynonymous SNV	SNCAIP:NM_001308109:exon7:c.G881A:p.R294Q,SNCAIP:NM_001242935:exon8:c.G995A:p.R332Q,SNCAIP:NM_001308105:exon8:c.G1913A:p.R638Q,SNCAIP:NM_001308106:exon8:c.G989A:p.R330Q,SNCAIP:NM_001308107:exon8:c.G995A:p.R332Q,SNCAIP:NM_001308108:exon8:c.G1175A:p.R392Q,SNCAIP:NM_005460:exon10:c.G2093A:p.R698Q,SNCAIP:NM_001308100:exon12:c.G2234A:p.R745Q	.	.	.	.	.	.	.	.	.	.	.	4072313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0148649718064	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350254829	1.026e-05	1.094e-05	1.497e-05	5.5e-06	1.16e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	0	0	0	1.873e-05	0	9.892e-06	3.311e-05	1.16e-05	1.314e-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	0.002	0.72154	D	0.212	0.38305	T	0.889	0.77913	P	0.217	0.73362	B	0.000005	0.62929	D	0.098083	0.922436	0.81001	D	1.79	0.46772	L	4.72	0.17113	T	-1.35	0.34992	N	0.274	0.31027	-1.0570	0.12517	T	0.061	0.25528	T	10	0.14065054	0.26733	T	0.014865	0.35264	T	0.166	0.42578	0.213	0.13210	0.685470486175	0.68278	0.27946872615975726	0.27859	0.559095319866	0.52467	0.275631070137	0.06890	T	0.096727	0.39882	T	-0.13653	0.30444	T	-0.433893	0.29495	T	0.931919157505035	0.59760	D	0.994101	0.98044	D	0.19190437	0.40838	0.13483559	0.32299	0.19190437	0.40838	0.13483559	0.32298	-3.457	0.15835	T	.	.	0.138	0.34492	B	.;.;.;.	.;.;.;.	4.298407	0.65610	24.9	0.99958341463545275	0.99986	0.90876	0.52428	D	AEFBI	.	.	.	0.455051689326835	0.64491	4.704767	0.53436343888021	0.70317	5.487475	0.993595867249931	0.33278	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.06	5.09	0.68647	4.228000	0.58419	6.591000	0.56026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.3058:0.0:0.6942:0.0	4.057	0.09302	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2798.33	201	chr5	122450940	.	G	A	2798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=817;ExcessHet=0;FS=4.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.38;SOR=1.049	GT:AD:DP:GQ:PL	0/1:92,109:201:99:2812,0,2265	18	0	1	0
chr5	123090201	123090201	G	A	exonic	PRDM6	.	nonsynonymous SNV	PRDM6:NM_001136239:exon2:c.G187A:p.E63K	Patent ductus arteriosus 3, Autosomal dominant	179	1338	5	0	0	5	0.00186498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.225724863194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.497e-07	6.841e-07	0	1.521e-06	9.494e-07	0	0	.	.	0	0	0	0	0	0	9.494e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.715	0.05434	T	0.386	0.34500	B	0.035	0.22741	B	.	.	.	.	0.93576	0.26935	N	0.55	0.14455	N	2.95	0.09635	T	-0.23	0.10656	N	0.119	0.10911	-1.0284	0.20973	T	0.016	0.06616	T	9	0.17338863	0.32164	T	0.225725	0.88011	D	0.041	0.10877	0.324	0.30549	0.202086224978	0.19791	0.28300954831199754	0.28213	.	.	0.900883436203	0.96537	D	0.003871	0.03282	T	-0.160718	0.26649	T	-0.468637	0.25662	T	0.465528845787048	0.31367	T	0.645335	0.25688	T	0.20161435	0.42178	0.2800212	0.53974	0.20161435	0.42177	0.2800212	0.53973	-4.43	0.29961	T	.	.	0.339	0.55835	B	.	.	2.922755	0.38803	20.8	0.99597450516667618	0.73983	0.63710	0.32174	D	AEFDBHCIJ	0.222750	0.34720	N	-0.553228640201304	0.20383	1.074081	-0.497196642576773	0.22232	1.206474	0.999999999193119	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.26	3.26	0.36471	2.943000	0.48719	7.527000	0.59855	0.443000	0.21123	0.710000	0.28722	1.000000	0.68203	0.107000	0.18608	0.0:0.0:1.0:0.0	13.410	0.60383	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	481.33	29	chr5	123090201	.	G	A	481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=603;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.284;SOR=1.11	GT:AD:DP:GQ:PL	0/1:14,15:29:99:495,0,380	18	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,23:102:99:.:.:155,0,794:.	6	0	8	5
chr5	131182237	131182237	A	C	exonic	LYRM7	.	nonsynonymous SNV	LYRM7:NM_001293735:exon3:c.A100C:p.I34L,LYRM7:NM_181705:exon3:c.A100C:p.I34L	Mitochondrial complex III deficiency, nuclear type 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1183547	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	0.0110093019464	0.0004	0.000399361	0.0005	0.0005	0.0007	0	0	0.0008	0	0.0004	0.0002846	44	154602	rs200336982	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0003	0.0008	0.0007	0.0012	0.0006	0.0034	0	0	0.0015	0.0002	0.0009	0.0004	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0	0.0004	0.0037	0	0	0.0034	0.0004	0.0009	0.0002	0.473	0.08408	T	1.0	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	0.142452	0.18243	N	0.563855	1	0.81001	D	0.68	0.16426	N	-0.32	0.68181	T	0.33	0.04022	N	0.299	0.38129	-1.0169	0.24722	T	0.069	0.28247	T	10	0.0120663345	0.00261	T	0.011009	0.28187	T	0.087	0.25287	0.208	0.12497	0.203808441222	0.19973	0.24174664034269164	0.24088	0.0402750302051	0.04312	0.486894279718	0.37008	T	0.009047	0.08263	T	-0.357062	0.04298	T	-0.381921	0.35498	T	0.0017659334698692	0.00018	T	0.818618	0.59262	T	0.08996316	0.21035	0.05216971	0.08543	0.105662055	0.24982	0.057594758	0.10497	-4.02	0.24102	T	0.053793091651684936	0.01108	0.069	0.08033	B	.;.	.;.	1.196764	0.15883	12.17	0.89642866227950757	0.18973	0.57048	0.30275	D	AEFBI	0.136531	0.25723	N	-0.671611996690606	0.16833	0.8611353	-0.440697821983644	0.23813	1.300631	0.815200107054814	0.24426	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	4.67	2.33	0.27981	0.864000	0.27581	1.228000	0.25023	0.756000	0.94297	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.7863:0.0:0.2137:0.0	5.784	0.17585	166	0.93555	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003030	0.015306	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	518.33	36	chr5	131182237	.	A	C	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.876;DP=670;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=1.22;SOR=0.519	GT:AD:DP:GQ:PL	0/1:15,21:36:99:532,0,315	18	0	1	0
chr5	131671533	131671533	C	A	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon13:c.G2827T:p.A943S,FNIP1:NM_001346114:exon13:c.G2776T:p.A926S,FNIP1:NM_133372:exon14:c.G2911T:p.A971S	.	430	1086	6	0	0	6	0.00275482	.	.	.	2102639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0007	0.00259585	0.0011	0.0006	0.0003	0	0	0.0005	0	0.0060	0.0010479	162	154602	rs139117851	0.0007	0.0007	0.0005	0.0009	0.0051	0.0006	0.0006	0.0047	0.0045	0.0013	0.0006	0.0039	0	0	0.0014	0.0003	0.0013	0.0051	0.0007	0.0007	0.0006	0.0009	0.0062	0.0006	0.0006	0.0045	0.0039	0.0008	0	0.0005	0.0035	0	0	0.0034	0.0004	0	0.0062	0.822	0.03431	T	0.825	0.03772	T	0.001	0.11197	B	0.011	0.15521	B	.	.	.	.	1	0.81001	D	1.79	0.46772	L	2.79	0.11298	T	0.19	0.04947	N	0.216	0.30687	-0.9482	0.41279	T	0.012	0.04416	T	9	0.0056043863	0.00124	T	.	.	.	0.048	0.13305	.	.	0.043077524339	0.03247	0.17039910358277424	0.16959	0.0968877573739	0.10942	.	.	.	0.001676	0.05421	T	-0.583277	0.00184	T	-0.609247	0.12047	T	0.00231501126758295	0.00024	T	0.816718	0.47282	T	0.04784784	0.08244	0.04563088	0.06183	0.04784784	0.08244	0.04563088	0.06182	-2.338	0.04767	T	.	.	0.091	0.13032	B	.;.;.;.	.;.;.;.	1.357708	0.17661	13.30	0.738963869244742	0.10495	0.54749	0.29692	D	AEFDGBHCI	0.182230	0.30956	N	-0.700987876435802	0.15994	0.8110018	-0.494989696483456	0.22291	1.210021	0.999999124703874	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.81	1.01	0.19044	0.386000	0.20429	0.130000	0.15034	0.549000	0.26987	0.998000	0.41325	0.933000	0.28592	0.996000	0.76049	0.0:0.5892:0.0:0.4108	9.245	0.36679	375	0.84013	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-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	0.003021	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1208.33	133	chr5	131671533	.	C	A	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.496;DP=767;ExcessHet=0;FS=3.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-1.281;SOR=0.427	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1222,0,2025	18	0	1	0
chr5	133968520	133968520	G	A	exonic	C5orf15	.	nonsynonymous SNV	C5orf15:NM_020199:exon1:c.C65T:p.A22V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00285879009885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262820876	6.872e-07	1.368e-06	0	1.383e-06	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.09	0.40267	T	.	.	.	.	.	.	0.084093	0.20716	N	0.398617	1	0.08975	N	.	.	.	.	.	.	-1.08	0.28084	N	0.175	0.18784	-1.0234	0.22606	T	0.054	0.22997	T	9	0.07067275	0.10313	T	0.002859	0.06015	T	0.014	0.01968	0.313	0.28774	0.0551355673512	0.04727	0.4368363136009374	0.43600	0.220456262239	0.24588	.	.	.	.	.	.	-0.258486	0.13077	T	-0.609073	0.12061	T	0.107144078183697	0.13124	T	0.462854	0.13445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24464	B	.	.	1.868871	0.23742	16.13	0.99136287371045217	0.53410	0.02046	0.06121	N	AEFGBHCIJ	0.124614	0.24075	N	-1.2580345333774	0.04195	0.1888598	-1.26369279523599	0.04931	0.2337976	0.999999999998443	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.88	0.939	0.18631	-0.200000	0.09480	0.507000	0.19047	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.0:0.4301:0.5699:0.0	11.701	0.50835	190	0.92594	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	67	chr5	133968520	.	G	A	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.593;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,30:67:99:740,0,860	18	0	1	0
chr5	139325664	139325664	-	ATAGACTATGTGATACCTAAAACAGG	splicing	MATR3	NM_001282278:exon15:c.1357+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194954:exon15:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_199189:exon16:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_018834:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194956:exon12:c.1507+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194955:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACAGG	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	2.121e-05	0	1.377e-06	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	59.29	169	chr5	139325664	.	T	TATAGACTATGTGATACCTAAAACAGG	59.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=1150;ExcessHet=0;FS=23.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-6.023;QD=0.35;ReadPosRankSum=-4.647;SOR=4.204	GT:AD:DP:GQ:PL	0/1:156,13:169:73:73,0,6481	18	0	1	0
chr5	139393683	139393683	C	T	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.G1399A:p.G467R	.	426	1088	7	1	0	9	0.00411899	.	.	.	2379311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00232725472628	0.0002	0.000199681	0.0006	0	0	0	0	0.0012	0	0.0004	0.0001552	24	154602	rs377325818	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	6.33e-05	0.0005	0.0044	0	0	0.0023	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.908e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0009	0	0.874	0.02581	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	.	.	.	1.43	0.00805	N	0.077	0.05162	-0.9897	0.32677	T	0.033	0.14334	T	8	0.004777491	0.00101	T	0.002327	0.04507	T	0.011	0.01250	0.226	0.15109	0.0551355673512	0.04727	0.025325965205608567	0.02483	.	.	0.272533655167	0.06473	T	7.81E-4	0.00376	T	-0.560545	0.00252	T	-0.712959	0.05144	T	0.00663106754038004	0.00074	T	0.446455	0.12522	T	0.030092647	0.02612	0.052207988	0.08557	0.030092647	0.02612	0.052207988	0.08557	-2.255	0.04316	T	.	.	0.094	0.14339	B	.	.	-0.429859	0.02104	0.198	0.5699926620880883	0.05673	0.00256	0.01406	N	AEFDGBCI	0.035713	0.04644	N	-1.34907614716816	0.03134	0.1395339	-1.31407204023235	0.04248	0.1999421	0.999999791667306	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.08	1.72	0.23498	-0.693000	0.05222	-0.217000	0.10799	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.35:0.0:0.65	5.852	0.17948	627	0.65350	.	.	.	.	.	.	Likely benign	0	0	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	0.001099	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	2254.33	135	chr5	139393683	.	C	T	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=1161;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.447;SOR=0.533	GT:AD:DP:GQ:PL	0/1:58,77:135:99:2268,0,1570	18	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,41:191:99:.:.:183,0,4399:.	10	0	7	2
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,48:191:99:.:.:243,0,4393:.	10	0	7	2
chr5	140850693	140850693	C	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C2198G:p.A733G,PCDHA9:NM_031857:exon1:c.C2198G:p.A733G	.	442	1030	45	5	0	55	0.0260047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0005	0.00678914	0.0063	0.0002	0.0015	0.0001	0	0.0007	0.0111	0.0415	0.0054333	840	154602	rs138234390	0.0030	0.0030	0.0018	0.0041	0.0394	0.0029	0.0029	0.0383	0.0378	0.0002	0.0012	0.0014	0.0002	0	0.0105	0.0005	0.0040	0.0394	0.0016	0.0016	0.0010	0.0021	0.0340	0.0014	0.0013	0.0297	0.0280	0.0003	0	0.0015	0.0006	0	0	0.0210	0.0004	0.0014	0.0340	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.006390	0.32067	N	0.000000	0.999999	0.08975	N	-0.99	0.01185	N	2.77	0.11407	T	2.36	0.00310	N	0.083	0.05929	-0.9242	0.44971	T	0.009	0.03403	T	10	0.0024614036	0.00037	T	.	.	.	0.041	0.10877	.	.	0.239305524855	0.23518	0.07940304107957419	0.07875	.	.	.	.	.	1.62E-4	0.00025	T	-0.693607	0.00040	T	-0.819536	0.01462	T	0.00586151255596773	0.00064	T	0.20168	0.03740	T	0.018968089	0.00421	0.046305787	0.06424	0.018968089	0.00421	0.046305787	0.06423	-4.812	0.37939	T	.	.	0.062	0.04041	B	.;.	.;.	-0.193616	0.03122	0.499	0.60644728228370959	0.06513	0.00357	0.01833	N	AEFDBI	0.033054	0.03850	N	-1.5191799375624	0.01723	0.07544431	-1.44704006132078	0.02797	0.1293107	1.79492614263866E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.51	1.5	0.22029	-0.767000	0.04826	.	.	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.476:0.5239:0.0	13.667	0.61877	32	0.98147	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014706	0.005051	0.008264	0.014881	0.050000	0.000000	0.009202	0.045455	0.05263	10500.8	473	chr5	140850693	.	C	G	10500.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=3355;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.191;SOR=0.662	GT:AD:DP:GQ:PL	0/1:227,246:473:99:6429,0,5471	17	0	2	0
chr5	140884535	140884535	C	G	exonic	PCDHA13	.	nonsynonymous SNV	PCDHA13:NM_018904:exon1:c.C2267G:p.P756R,PCDHA13:NM_031865:exon1:c.C2267G:p.P756R	.	419	1053	49	1	0	51	0.0236439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0004	0.00678914	0.0061	0.0002	0.0015	0.0002	0	0.0007	0.0100	0.0400	0.0052328	809	154602	rs142468733	0.0028	0.0028	0.0018	0.0039	0.0378	0.0028	0.0027	0.0367	0.0363	0.0002	0.0011	0.0012	0.0002	0	0.0097	0.0004	0.0037	0.0378	0.0015	0.0015	0.0010	0.0021	0.0328	0.0014	0.0013	0.0286	0.0270	0.0003	0	0.0014	0.0006	0	0	0.0205	0.0004	0.0014	0.0328	0.432	0.09486	T	0.344	0.35840	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.81001	D	0.49	0.13296	N	2.9	0.10101	T	1.29	0.00961	N	0.129	0.20262	-0.9477	0.41364	T	0.015	0.05897	T	9	0.0030344129	0.00050	T	.	.	.	0.022	0.04323	.	.	0.218112801441	0.21410	0.2361661489629874	0.23531	.	.	.	.	.	0.021645	0.16823	T	-0.618442	0.00112	T	-0.631849	0.10275	T	0.00878847322351521	0.00108	T	0.673133	0.30512	T	0.03787378	0.04938	0.0711216	0.15192	0.03787378	0.04938	0.0711216	0.15191	-2.804	0.25364	T	.	.	0.066	0.05404	B	.;.;.	.;.;.	1.321562	0.17257	13.05	0.75508712818316182	0.11102	0.24498	0.22412	N	AEFDBCI	0.157813	0.28338	N	-0.853937309411729	0.11953	0.5798126	-0.702588075416452	0.16896	0.8959734	0.0341342033371972	0.14140	0.475244	0.09938	2	0.573888	0.26702	0	0.641878	0.46077	1	0.613276	0.41899	0	.	.	4.61	2.02	0.25641	1.128000	0.30982	.	.	-0.045000	0.17359	0.036000	0.20778	0.655000	0.25985	0.707000	0.34357	0.5736:0.4264:0.0:0.0	11.497	0.49662	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	0.014617	0.005051	0.006793	0.017544	0.050000	0.000000	0.009202	0.045455	0.05263	3341.83	147	chr5	140884535	.	C	G	3341.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=988;ExcessHet=0.119;FS=0.904;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.982;SOR=0.62	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1706,0,1819	17	0	2	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.07895	12840.8	414	chr5	141096081	.	C	A	12840.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.79;DP=2152;ExcessHet=0.3672;FS=1.104;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.2;MQRankSum=3.72;QD=12.1;ReadPosRankSum=0.645;SOR=0.616	GT:AD:DP:GQ:PL	0/1:218,196:414:99:4994,0,5770	16	0	3	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.07895	3350.79	99	chr5	141122851	.	G	C	3350.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.065;DP=1516;ExcessHet=0.3672;FS=5.845;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.865;SOR=0.597	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1516,0,1273	16	0	3	0
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1117.17	226	chr5	141173766	.	G	A	1117.17	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:173,34:226:99:125,0,3486	10	0	2	7
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.005051	0.010870	0.005848	0.000000	0.017241	0.021341	0.007576	0.07895	5338.79	176	chr5	141211069	.	C	G	5338.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1296;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.988;SOR=0.735	GT:AD:DP:GQ:PL	0/1:91,83:176:99:1926,0,2102	16	0	3	0
chr5	141215723	141215723	T	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.T1600A:p.S534T	.	82	1384	52	4	0	60	0.0212164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00559105	0.0070	0.0004	0.0015	0.0002	0.0042	0.0049	0.0122	0.0277	0.0004592	71	154602	rs142003231	0.0063	0.0063	0.0054	0.0072	0.0274	0.0062	0.0061	0.0265	0.0261	0.0009	0.0019	0.0005	0.0002	0.0040	0.0146	0.0055	0.0058	0.0274	0.0049	0.0048	0.0044	0.0053	0.0279	0.0046	0.0044	0.0241	0.0227	0.0008	0	0.0037	0	0.0004	0.0048	0.0068	0.0066	0.0047	0.0279	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	5.18	0.01178	T	2.2	0.00324	N	0.046	0.01825	-0.9294	0.44227	T	0.001	0.00438	T	9	0.015485257	0.00325	T	.	.	.	0.010	0.01040	.	.	0.124217242631	0.12060	0.09065137351058344	0.08998	.	.	0.637654304504	0.58230	T	9.38E-4	0.00486	T	-0.78454	0.00010	T	-0.879441	0.00658	T	0.00595909488213273	0.00066	T	0.240776	0.03459	T	0.033583492	0.03606	0.040221427	0.04296	0.033583492	0.03606	0.040221427	0.04295	1.445	0.00087	T	.	.	0.063	0.01491	B	.	.	-1.559795	0.00261	0.004	0.44196782515171285	0.03381	0.00237	0.01320	N	AEFBI	0.033532	0.03998	N	-2.08608395626137	0.00137	0.005879442	-2.11890146718901	0.00169	0.007454467	0.443293760168707	0.20471	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.42	-5.84	0.02127	-7.928000	0.00035	.	.	-3.762000	0.00061	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3484:0.0:0.301:0.3505	4.108	0.09516	687	0.59234	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009199	0.005376	0.008152	0.004132	0.000000	0.017241	0.019231	0.003817	0.05263	7178.83	162	chr5	141215723	.	T	A	7178.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.07;DP=1947;ExcessHet=0.119;FS=1.755;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-4.047;QD=20.34;ReadPosRankSum=1.13;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,96:162:99:0|1:141215722_T_C:3812,0,2477:141215722	17	0	2	0
chr5	141224029	141224029	A	G	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.A524G:p.N175S	.	431	1071	20	0	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	7.7e-05	0.00399361	0.0034	0.0002	8.64e-05	0.0001	0	0.0003	0.0033	0.0237	0.0029883	462	154602	rs200378467	0.0015	0.0015	0.0009	0.0022	0.0221	0.0015	0.0015	0.0213	0.0210	2.991e-05	0.0002	0.0010	0.0002	0	0.0042	0.0001	0.0020	0.0221	0.0008	0.0008	0.0005	0.0011	0.0190	0.0007	0.0006	0.0159	0.0147	7.217e-05	0	0.0007	0.0006	0	0	0.0034	0.0002	0.0019	0.0190	0.049	0.39820	D	0.064	0.44905	T	0.966	0.56202	D	0.573	0.49966	P	.	.	.	.	0.95908	0.26200	N	1.86	0.49225	L	0.73	0.50721	T	-4.55	0.78553	D	0.171	0.37197	-0.7585	0.57487	T	0.297	0.66830	T	9	0.0061300397	0.00138	T	.	.	.	0.232	0.53354	.	.	0.741568591866	0.73925	0.04510056476940279	0.04454	0.275151034729	0.29997	0.2640440166	0.05381	T	0.043956	0.26664	T	-0.616578	0.00115	T	-0.640862	0.09606	T	0.0627792979981834	0.07599	T	0.856914	0.54589	D	0.13261251	0.30873	0.1652232	0.38233	0.13261251	0.30873	0.1652232	0.38233	-5.898	0.49603	T	.	.	0.072	0.07937	B	.;.	.;.	2.168090	0.27628	17.53	0.98286689661757454	0.39907	0.94622	0.61769	D	AEFBI	0.343104	0.43903	N	0.19959961650068	0.51179	3.301366	0.128840942202755	0.46030	2.855851	0.341564612655079	0.19589	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.02	1.2	0.20181	2.515000	0.45172	.	.	0.756000	0.94297	0.943000	0.32764	0.000000	0.08366	0.993000	0.69303	0.6983:0.1444:0.1573:0.0	5.639	0.16829	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.001359	0.008772	0.000000	0.008621	0.009146	0.018939	0.02632	2249.33	191	chr5	141224029	.	A	G	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.44;DP=829;ExcessHet=0;FS=0.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.311;SOR=0.76	GT:AD:DP:GQ:PL	0/1:100,91:191:99:2263,0,2685	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,46:269:99:.:.:1046,0,7247:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:215,69:284:99:.:.:1066,0,7244:.	1	0	18	0
chr5	141364748	141364748	G	T	exonic	PCDHGA5	.	nonsynonymous SNV	PCDHGA5:NM_018918:exon1:c.G418T:p.V140L,PCDHGA5:NM_032054:exon1:c.G418T:p.V140L	.	11	1506	5	0	0	5	0.00165728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00777042835283	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891416528	2.053e-06	2.052e-06	2.723e-06	1.375e-06	8.994e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.994e-07	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.007	0.14184	B	0.008	0.16460	B	.	.	.	.	1	0.81001	D	-1.13	0.00936	N	0.6	0.53731	T	-1.07	0.27876	N	0.041	0.03175	-0.9094	0.46928	T	0.046	0.19720	T	9	0.041682184	0.02847	T	0.00777	0.20616	T	0.148	0.39182	0.618	0.75232	0.452546404249	0.44878	0.1555750118850913	0.15478	0.169434259156	0.19097	.	.	.	0.132426	0.46251	T	-0.211496	0.19169	T	-0.541576	0.18143	T	0.0630713331227809	0.07643	T	0.490951	0.15096	T	0.08411077	0.19453	0.094339706	0.22325	0.08411077	0.19453	0.094339706	0.22325	-3.202	0.12505	T	.	.	0.205	0.43088	B	.;.	.;.	2.021205	0.25683	16.85	0.77735805530253654	0.12000	0.06941	0.12967	N	AEFDBI	0.101132	0.20319	N	-0.820955731735686	0.12775	0.62492	-0.651569606573928	0.18177	0.9698796	0.245678800327688	0.18623	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.42	3.51	0.39297	0.047000	0.13941	.	.	0.672000	0.70159	0.005000	0.17040	0.000000	0.08366	0.706000	0.34326	0.152:0.1486:0.4251:0.2743	1.617	0.02542	649	0.63102	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2479.33	149	chr5	141364748	.	G	T	2479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=890;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-1.517;SOR=0.995	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2493,0,1908	18	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K,PCDHGB5:NM_032099:exon1:c.G1268A:p.R423K	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;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	0.015609	0.000000	0.005435	0.011696	0.000000	0.017241	0.024390	0.022727	0.05263	7456.83	369	chr5	141399395	.	G	A	7456.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=1835;ExcessHet=0.119;FS=1.736;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.42;SOR=0.852	GT:AD:DP:GQ:PL	0/1:175,194:369:99:4754,0,4198	17	0	2	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|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	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.07895	7198.79	222	chr5	141408395	.	A	G	7198.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.02;DP=1497;ExcessHet=0.3672;FS=1.745;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.94;MQRankSum=-8.117;QD=11.13;ReadPosRankSum=1.55;SOR=0.744	GT:AD:DP:GQ:PL	0/1:128,94:222:99:2192,0,3225	16	0	3	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,17:79:66:.:.:66,0,835:.	10	0	7	2
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	2952.33	244	chr5	176889690	.	C	T	2952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.915;SOR=0.667	GT:AD:DP:GQ:PL	0/1:130,114:244:99:2966,0,3480	18	0	1	0
chr5	177435064	177435064	G	A	exonic	GRK6	.	nonsynonymous SNV	GRK6:NM_001364164:exon10:c.G370A:p.V124M,GRK6:NM_001004105:exon11:c.G1000A:p.V334M,GRK6:NM_001004106:exon11:c.G1000A:p.V334M,GRK6:NM_002082:exon11:c.G1000A:p.V334M	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0013	0.00319489	0.0025	0.0004	0.0004	0	0	0.0013	0.0022	0.0124	0.0022833	353	154602	rs143935970	0.0019	0.0019	0.0015	0.0022	0.0113	0.0018	0.0018	0.0107	0.0104	0.0002	0.0009	0.0010	2.519e-05	1.873e-05	0.0039	0.0014	0.0017	0.0113	0.0012	0.0012	0.0010	0.0014	0.0118	0.0011	0.0010	0.0093	0.0085	0.0004	0	0.0010	0.0009	0	0	0.0034	0.0013	0.0028	0.0118	0.028	0.48642	D	0.062	0.49942	T	0.998	0.77913	D	0.928	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.995	0.25082	L	1.81	0.25182	T	-1.83	0.42957	N	0.603	0.62866	-1.0094	0.27105	T	0.091	0.34874	T	10	0.010959148	0.00242	T	.	.	.	0.137	0.36984	.	.	0.55375338871	0.55033	0.665471097586976	0.66484	1.6732094712	0.89882	0.849718809128	0.89573	D	0.304871	0.67715	T	-0.361079	0.04069	T	-0.282046	0.46595	T	0.0193995816189315	0.00645	T	0.889711	0.62583	D	0.297359	0.52666	0.16623408	0.38413	0.297359	0.52666	0.16623408	0.38413	-6.579	0.51191	T	.	.	0.347	0.58697	A	.;.;.;.;.	.;.;.;.;.	5.119054	0.85616	28.7	0.9976194147316324	0.85172	0.97522	0.75297	D	AEFBHCI	0.793397	0.72141	D	0.398974369911757	0.61368	4.336809	0.402196825549314	0.61703	4.37404	0.999999999977355	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.56	4.69	0.58546	8.072000	0.89294	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.863:0.137	15.829	0.78518	923	0.18507	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	947.33	95	chr5	177435064	.	G	A	947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=741;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.713;SOR=0.368	GT:AD:DP:GQ:PL	0/1:55,40:95:99:961,0,1451	18	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1006076	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	2747.33	216	chr5	178986908	.	G	A	2747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.113;DP=2119;ExcessHet=0;FS=3.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.106;SOR=0.928	GT:AD:DP:GQ:PL	0/1:106,110:216:99:2761,0,2559	18	0	1	0
chr5	181005580	181005580	C	T	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon8:c.C1109T:p.T370I	.	409	1108	5	0	0	5	0.00225124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	7.7e-05	0.00778754	0.0044	0	0.0003	0.0003	0	2.997e-05	0.0022	0.0315	0.0038163	590	154602	rs370181017	0.0019	0.0019	0.0011	0.0026	0.0296	0.0018	0.0018	0.0287	0.0283	5.974e-05	4.472e-05	0	2.519e-05	0	0.0010	1.619e-05	0.0024	0.0296	0.0010	0.0010	0.0006	0.0015	0.0309	0.0009	0.0009	0.0268	0.0253	0.0001	0	0.0001	0	0	0	0	1.471e-05	0.0009	0.0309	0.109	0.29288	T	0.083	0.41405	T	0.918	0.50838	P	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0.93	0.23535	L	-0.4	0.69287	T	-1.02	0.26843	N	0.085	0.06190	-0.9450	0.41814	T	0.187	0.53691	T	9	0.0043010116	0.00087	T	.	.	.	0.095	0.27398	.	.	0.542187413537	0.53871	0.11433833773643799	0.11361	0.443312477604	0.44264	0.362779676914	0.19790	T	0.004722	0.04133	T	-0.601416	0.00143	T	-0.614357	0.11633	T	0.0165795820794273	0.00419	T	0.272373	0.04609	T	0.056158777	0.11010	0.044784818	0.05879	0.056158777	0.11010	0.044784818	0.05879	-3.015	0.10343	T	.	.	0.129	0.27613	B	.	.	0.417456	0.07880	4.583	0.95846449107828302	0.27979	0.00744	0.03102	N	AEFGBI	0.050796	0.08912	N	-0.732878623882299	0.15102	0.7581909	-0.91598267760097	0.11717	0.5986386	6.9356996064643E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.71	0.23429	-1.735000	0.01946	-4.892000	0.01939	-0.357000	0.05528	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2478:0.6002:0.0:0.152	3.431	0.06999	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2710.33	236	chr5	181005580	.	C	T	2710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=1588;ExcessHet=0;FS=4.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.594;SOR=0.959	GT:AD:DP:GQ:PL	0/1:128,108:236:99:2724,0,3372	18	0	1	0
chr6	12120954	12120954	G	A	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.G1159A:p.V387I	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00851755685903	8.1e-05	.	4.143e-05	0	0	0.0002	0	4.498e-05	0	0	3.23e-05	5	154602	rs370383342	3.694e-05	3.694e-05	4.084e-05	3.3e-05	0.0002	2.894e-05	2.592e-05	8.198e-05	5.784e-05	5.974e-05	0	0	0.0002	0	0	3.687e-05	6.623e-05	0	6.567e-05	7.218e-05	3.855e-05	9.403e-05	0.0002	3.515e-05	2.615e-05	2.846e-05	1.858e-05	2.407e-05	0	6.536e-05	0	0.0002	0	0	7.35e-05	0.0005	0.0002	0.161	0.23631	T	0.349	0.17531	T	.	.	.	.	.	.	0.007816	0.31183	N	0.000000	0.910121	0.36389	D	.	.	.	2.94	0.09728	T	-0.43	0.14390	N	0.161	0.16864	-1.0015	0.29488	T	0.016	0.06473	T	9	0.11310828	0.21238	T	0.008518	0.22532	T	0.144	0.38394	.	.	0.402048819238	0.39823	0.14147814097534672	0.14070	0.295431489209	0.31946	0.33338791132	0.15445	T	.	.	.	-0.334448	0.05782	T	-0.453759	0.27282	T	0.122515944586576	0.14674	T	0.880812	0.59928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	3.114264	0.42023	21.5	0.99278329477558347	0.57799	0.95648	0.65567	D	AEFBCI	0.315408	0.41999	N	0.301057039900993	0.56203	3.784685	0.361428203310129	0.59198	4.095809	0.999999971554693	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.499000	0.66654	2.647000	0.33790	0.676000	0.76740	0.998000	0.41325	0.993000	0.31925	0.995000	0.73285	0.0:0.0:1.0:0.0	18.746	0.91756	496	0.76301	.;.	.	.	.	.	.	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	0.02632	3004.33	200	chr6	12120954	.	G	A	3004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=2016;ExcessHet=0;FS=2.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.594;SOR=0.516	GT:AD:DP:GQ:PL	0/1:101,99:200:99:3018,0,2562	18	0	1	0
chr6	13711378	13711378	G	A	exonic	RANBP9	.	nonsynonymous SNV	RANBP9:NM_005493:exon1:c.C128T:p.A43V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.247496334439	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315723814	9.807e-07	1.368e-06	0	2.082e-06	4.86e-05	0	0	.	.	4.86e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.416	0.14284	T	0.335	0.33330	B	0.03	0.21741	B	.	.	.	.	0.997129	0.22782	N	0.345	0.11182	N	-1.25	0.79072	T	-0.7	0.19933	N	0.049	0.02088	-1.0170	0.24690	T	0.093	0.35390	T	9	0.10407689	0.19167	T	0.247496	0.88971	D	0.139	0.37390	0.264	0.20946	0.421947164513	0.41814	0.11578313958819043	0.11506	0.825195395317	0.67364	0.606503903866	0.53823	T	0.143175	0.47916	T	-0.085843	0.38758	T	-0.361084	0.37928	T	0.155327558517456	0.17520	T	0.358764	0.08201	T	0.08859506	0.20673	0.21705815	0.46357	0.08859506	0.20673	0.21705815	0.46356	-5.547	0.42306	T	.	.	0.119	0.24329	B	.	.	2.612157	0.33929	19.48	0.98712739112615899	0.45083	0.02978	0.07827	N	AEFDBCIJ	0.060421	0.11481	N	-0.770211207797264	0.14091	0.6991409	-0.760117262345726	0.15474	0.8140061	0.999999953242843	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.171818	0.04044	3	0.492483	0.08430	1	.	.	1.66	1.66	0.23081	0.130000	0.15676	5.090000	0.47345	0.212000	0.17994	0.000000	0.06391	1.000000	0.68203	0.061000	0.16044	0.0:0.0:1.0:0.0	8.433	0.31930	785	0.46916	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	87.51	6	chr6	13711378	.	G	A	87.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.431;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:66:101,0,66	18	0	1	0
chr6	17600593	17600593	G	A	exonic	FAM8A1	.	nonsynonymous SNV	FAM8A1:NM_016255:exon1:c.G184A:p.A62T	.	.	.	.	.	.	.	.	.	.	.	2341494	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	.	.	0.000798722	0.0004	0	0	0	0	0.0005	0.0102	0.0002	0.00011	17	154602	rs568604997	0.0002	0.0002	0.0002	0.0002	0.0034	0.0001	0.0001	0.0021	0.0017	0.0006	0.0009	0	0	4.286e-05	0.0034	0.0001	0.0005	4.136e-05	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0001	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	0.0002	0.0005	0	0.065	0.36310	T	0.113	0.36901	T	0.012	0.16265	B	0.002	0.06944	B	0.885750	0.08722	N	0.925584	1	0.08975	N	0	0.06538	N	.	.	.	0.09	0.05917	N	0.119	0.10911	-0.9551	0.40078	T	0.016	0.06473	T	9	0.0142546	0.00300	T	.	.	.	0.009	0.00846	.	.	0.115124310173	0.11017	0.3575093161736696	0.35664	0.306372794071	0.32934	0.829345345497	0.86461	D	.	.	.	-0.366701	0.03764	T	-0.396925	0.33741	T	0.0332993237768246	0.02521	T	0.441756	0.12241	T	0.044016514	0.06964	0.092616044	0.21836	0.044016514	0.06964	0.092616044	0.21836	-5.496	0.41831	T	.	.	0.089	0.12228	B	.	.	0.795393	0.11661	8.243	0.97192980158583198	0.32775	0.08272	0.14223	N	ALL	0.027636	0.02294	N	-1.24658721515203	0.04345	0.1959131	-1.24614351603335	0.05188	0.2466096	0.999999742446051	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.22	1.06	0.19341	0.205000	0.17154	0.092000	0.14529	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1075:0.0:0.5396:0.3529	5.166	0.14414	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009019	0.045977	0.011706	0.000000	0.000000	0.009434	0.000000	0.000000	0.02778	618.73	30	chr6	17600593	.	G	A	618.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.368;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.93;SOR=0.734	GT:AD:DP:GQ:PL	0/1:8,22:30:99:632,0,163	17	0	1	1
chr6	18263847	18263847	-	TCC	exonic	DEK	.	nonframeshift insertion	DEK:NM_001134709:exon2:c.140_141insGGA:p.E47_K48insE,DEK:NM_003472:exon2:c.140_141insGGA:p.E47_K48insE	Leukemia, acute nonlymphocytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0002	0.0004	0	0.0002	0	0.0002	0	0.0002	0.0001617	25	154602	rs539995106	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0007	0.0001	3.833e-05	0.0004	3.747e-05	0.0002	0.0004	0.0007	0.0004	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0002	0.0006	0.0005	0.0004	0	6.546e-05	0	0.0014	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	967.29	64	chr6	18263847	.	T	TTCC	967.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.229;DP=690;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.4;SOR=0.811	GT:AD:DP:GQ:PL	0/1:37,27:64:99:981,0,1470	18	0	1	0
chr6	26234378	26234380	CTT	-	exonic	H1-3	.	nonframeshift deletion	H1-3:NM_005320:exon1:c.554_556del:p.K185_A186delinsT	.	430	1089	3	0	0	3	0.00137552	.	.	.	2822783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0084	0.00519169	0.0057	0.0094	0.0020	0	0.0138	0.0065	0.0044	0.0030	0.0031889	83	26028	rs199868143	0.0059	0.0059	0.0058	0.0060	0.0092	0.0058	0.0057	0.0084	0.0080	0.0092	0.0020	0.0128	7.557e-05	0.0149	0.0024	0.0058	0.0053	0.0029	0.0073	0.0073	0.0070	0.0075	0.0089	0.0069	0.0068	0.0081	0.0078	0.0089	0.0011	0.0044	0.0124	0.0015	0.0132	0.0068	0.0065	0.0043	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.000000	0.02632	1752.29	93	chr6	26234377	.	GCTT	G	1752.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.917;DP=718;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-2.041;SOR=0.57	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1766,0,1790	18	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	0.07895	1369.79	130	chr6	29942795	.	C	T	1369.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.338;DP=2200;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.14;MQRankSum=-3.245;QD=3.32;ReadPosRankSum=3.5;SOR=0.618	GT:AD:DP:GQ:PL	0/1:114,16:130:99:329,0,4675	16	0	3	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.000000	0.001359	0.000000	0.000000	0.008772	0.012195	0.018939	0.02632	1291.33	110	chr6	30546752	.	G	A	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=733;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.062;SOR=0.671	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1305,0,1380	18	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	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,100:199:99:.:.:2475,0,2508:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,29:61:99:.:.:917,0,892:.	10	0	9	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,22:177:32:.:.:32,0,4807:.	12	0	6	1
chr6	31355398	31355398	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G814A:p.V272M	.	0	1510	12	0	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00459361287355	.	.	5.767e-05	0	8.639e-05	0.0002	0.0002	4.496e-05	0	0	7.12e-05	11	154602	rs41558116	1.37e-06	2.052e-06	2.726e-06	0	5.059e-05	2.3e-07	9e-08	8.38e-06	3.14e-06	0	0	0	5.059e-05	0	0	0	0	0	0	6.671e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.022	0.57587	D	0.938	0.52538	P	0.598	0.50679	P	0.939030	0.07583	U	1.046770	0.99179	0.23983	N	.	.	.	4.14	0.02839	T	-1.75	0.41428	N	0.1	0.08227	-0.9441	0.41960	T	0.007	0.02598	T	10	0.23147342	0.40122	T	0.004594	0.11346	T	0.114	0.32008	.	.	0.213573922156	0.20996	0.16963876345695159	0.16883	0.828746416329	0.67537	.	.	.	0.027453	0.20103	T	-0.141319	0.29681	T	-0.440771	0.28721	T	0.729501903057098	0.42184	D	0.628837	0.24395	T	0.44117406	0.63478	0.3217573	0.58122	0.44117406	0.63479	0.3217573	0.58121	-9.205	0.69006	D	.	.	0.158	0.34970	B	.;.;.;.	.;.;.;.	3.073368	0.41320	21.3	0.98862436120573971	0.47493	0.07948	0.13932	N	AEFDBHCI	0.151370	0.27584	N	-0.139968969333079	0.35662	2.051313	-0.297652432696044	0.28176	1.568886	0.999993546791608	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.27	0.20595	0.172000	0.16518	.	.	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.605000	0.31514	0.0:0.6896:0.1938:0.1165	6.020	0.18853	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	0.002153	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	158.33	225	chr6	31355398	.	C	T	158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=3387;ExcessHet=0;FS=9.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.83;MQRankSum=-8.732;QD=0.7;ReadPosRankSum=-1.706;SOR=0.761	GT:AD:DP:GQ:PL	0/1:195,30:225:99:172,0,5653	18	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	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,29:219:99:.:.:382,0,5892:.	11	0	8	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,15:21:99:0|1:31356399_C_G:859,229,183:31356399	7	2	10	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,71:150:99:0|1:31356739_C_A:2737,0,3103:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,98:189:99:0|1:31356809_C_T:3802,0,3521:31356809	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,32:61:99:.:.:2527,1059,1121:.	12	0	7	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,32:61:62:.:.:1468,0,62:.	7	1	11	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.02632	2012.33	185	chr6	31576785	.	C	T	2012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.16;SOR=0.721	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2026,0,2144	18	0	1	0
chr6	31624332	31624332	A	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon4:c.A362G:p.Q121R,PRRC2A:NM_080686:exon4:c.A362G:p.Q121R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00431107444183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.02544	T	0.109	0.37449	T	0.077	0.24313	B	0.056	0.26147	B	0.000234	0.47286	D	0.000000	0.801501	0.34517	D	1.485	0.37223	L	4.65	0.01779	T	-1.37	0.33998	N	0.122	0.11626	-0.9311	0.43977	T	0.003	0.01092	T	10	0.073376656	0.11077	T	0.004311	0.10467	T	0.082	0.23913	0.444	0.50139	0.138757226776	0.13463	0.3883269082735907	0.38747	0.167843633087	0.18923	0.498628497124	0.38637	T	0.007095	0.06517	T	-0.196678	0.21284	T	-0.520291	0.20265	T	0.927319169044495	0.59010	D	0.721628	0.33490	T	0.15110534	0.34367	0.13112128	0.31491	0.15110534	0.34366	0.13112128	0.31490	-5.181	0.38748	T	.	.	0.214	0.44293	B	.;.	.;.	3.330165	0.45838	22.2	0.93132125489638384	0.22773	0.85030	0.44131	D	AEFDBCI	0.199810	0.32659	N	-0.0295688337982455	0.40520	2.407726	0.121094009867889	0.45631	2.822732	0.999982878712353	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	1.415000	0.34355	.	.	0.747000	0.86732	0.884000	0.31069	1.000000	0.68203	0.995000	0.73285	0.8345:0.1654:0.0:0.0	10.300	0.42827	878	0.29785	BAT2, N-terminal;BAT2, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	150	chr6	31624332	.	A	G	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-2.12;SOR=0.731	GT:AD:DP:GQ:PL	0/1:81,69:150:99:1591,0,2276	18	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,24:135:99:0|1:31625601_T_C:186,0,3718:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,39:136:99:0|1:31625601_T_C:556,0,2497:31625601	1	0	16	2
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S	.	0	1469	52	1	0	54	0.0180481	.	.	.	3220457	FKBPL-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006536	0.000000	0.004076	0.010638	0.000000	0.008621	0.009146	0.003788	0.05263	3063.83	109	chr6	32129698	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.47;DP=873;ExcessHet=0.119;FS=0.46;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.84;SOR=0.636	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1169,0,1737	17	0	2	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N	.	421	1020	78	3	0	84	0.039548	.	.	.	3500764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	Likely benign	0	0	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	0.051198	0.025253	0.065217	0.031915	0.100000	0.094828	0.070122	0.034091	0.05263	6006.83	233	chr6	32405014	.	C	T	6006.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=1056;ExcessHet=0.119;FS=10.618;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.144;SOR=0.318	GT:AD:DP:GQ:PL	0/1:108,125:233:99:3274,0,2769	17	0	2	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1660.37	9	chr6	32521967	.	G	*	1660.37	.	AC=4;AF=0.125;AN=32;BaseQRankSum=3.04;DP=3811;ExcessHet=0.0018;FS=12.393;InbreedingCoeff=0.4623;MLEAC=5;MLEAF=0.156;MQ=41.52;MQRankSum=-0.926;QD=3.71;ReadPosRankSum=-2.144;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,3:9:99:0|1:32521783_C_CCT:468,255,238:32521783	13	1	2	3
chr6	32521968	32521968	C	T	exonic	HLA-DRB5	.	nonsynonymous SNV	HLA-DRB5:NM_002125:exon2:c.G307A:p.A103T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00352797210336	.	.	1.911e-05	0	0.0002	0	0	0	0	0	9.06e-05	14	154602	.	0.0001	0.0015	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	2.486e-05	0.0001	2.738e-05	6.242e-05	0	0.0001	9.992e-05	0.0002	1.18e-05	6.104e-05	0	2.429e-05	2.537e-05	0	0	.	.	0	0	0	0	0	0	0	2.537e-05	0	0	0.11	0.29158	T	0.176	0.29843	T	0.282	0.32132	B	0.054	0.25828	B	0.009617	0.01247	N	4.343080	1	0.08975	N	2.385	0.68708	M	8.31	0.00259	T	-1.07	0.27876	N	0.077	0.05162	-1.0063	0.28065	T	0.000	0.00075	T	10	0.062179536	0.07911	T	0.003528	0.08031	T	0.058	0.16647	0.138	0.04187	0.0297737177859	0.01360	0.08597424822063775	0.08531	0.0173346618961	0.01682	0.301356732845	0.10603	T	0.025595	0.19108	T	-0.296332	0.09010	T	-0.663437	0.08036	T	0.115118015084513	0.13946	T	0.0154984	0.00087	T	0.2328738	0.46082	0.2001708	0.43934	0.2328738	0.46082	0.2001708	0.43933	-5.761	0.44233	T	.	.	0.182	0.39562	B	.	.	-0.287144	0.02674	0.344	0.85282075613890684	0.15796	0.03952	0.09354	N	AEFDBHCIJ	0.304021	0.41183	N	-1.72416228014353	0.00759	0.03280149	-1.83957033863286	0.00640	0.02847258	0.999928221705437	0.46280	0.660085	0.49399	0	0.662677	0.63036	0	0.654281	0.52657	0	0.530356	0.10902	0	.	.	4.72	-3.95	0.03844	-2.528000	0.01021	.	.	-3.023000	0.00137	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.3298:0.0:0.2135	5.177	0.14465	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	22844.8	9	chr6	32521968	.	C	T	22844.8	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.27;DP=3900;ExcessHet=12.1646;FS=14.011;InbreedingCoeff=-0.5079;MLEAC=1;MLEAF=0.031;MQ=52.88;MQRankSum=-1.177;QD=9.74;ReadPosRankSum=-0.976;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:0|1:32521783_C_CCT:108,0,238:32521783	15	0	1	3
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:32521783_C_CCT:475,33,0:32521783	11	1	4	3
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,23:117:99:0|1:32530184_T_*:4969,3813,3733:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,20:113:99:0|1:32530184_T_*:4814,3784,3713:32530184	2	5	11	1
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,176:396:99:.:.:16462,9174,8768:.	8	0	8	3
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,180:402:99:0|1:32584162_G_T:7045,0,6489:32584162	3	2	14	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3227.01	536	chr6	32584318	.	C	*	3227.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.95;DP=7153;ExcessHet=1.3;FS=1.244;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=54.18;MQRankSum=-3.443;QD=1.74;ReadPosRankSum=0.027;SOR=0.792	GT:AD:DP:GQ:PL	0/1:461,47:536:99:567,0,19206	15	0	4	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,91:322:99:.:.:13746,9697,9405:.	3	0	15	1
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:305,52:357:99:1265,0,12634	14	0	5	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,86:126:99:0|1:32641436_G_A:5291,1680,1421:32641436	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,84:123:99:0|1:32641436_G_A:5165,1638,1385:32641436	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,87:130:99:0|1:32641436_G_A:5504,1802,1535:32641436	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,86:129:99:0|1:32641436_G_A:5507,1805,1538:32641436	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,72:154:99:0|1:32641501_G_*:6511,3446,3226:32641501	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,58:155:99:0|1:32641501_G_*:6929,4066,3843:32641501	4	4	11	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	18488.6	155	chr6	32641522	.	A	G	18488.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=5;MLEAF=0.132;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,97:155:99:0|1:32641501_G_*:6929,2474,2143:32641501	15	1	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,39:261:99:.:.:11184,9231,9069:.	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,50:268:99:0|1:32664926_G_A:1443,0,8964:32664926	12	0	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	62620.1	118	chr6	32666525	.	A	*	62620.1	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.825;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=30.4;ReadPosRankSum=-0.601;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,62:118:99:.:.:4956,2301,2105:.	15	1	3	0
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1476	44	2	0	48	0.016	.	.	.	3886708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	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	0.012527	0.005051	0.014946	0.021277	0.000000	0.017241	0.000000	0.011364	0.02632	1303.33	161	chr6	33303829	.	C	G	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=793;ExcessHet=0;FS=1.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.34;SOR=0.846	GT:AD:DP:GQ:PL	0/1:100,61:161:99:1317,0,2508	18	0	1	0
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	.	.	.	.	.	.	.	.	0.05263	5384.83	247	chr6	33670361	.	C	A	5384.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=1060;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.52;SOR=0.706	GT:AD:DP:GQ:PL	0/1:126,121:247:99:3023,0,2992	17	0	2	0
chr6	35291636	35291636	G	A	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon9:c.G830A:p.R277H,ZNF76:NM_003427:exon9:c.G830A:p.R277H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0180587921845	.	.	4.948e-05	0	0	0	0	6.003e-05	0	0.0001	4.53e-05	7	154602	rs571965399	1.368e-05	1.437e-05	1.089e-05	1.65e-05	5.797e-05	8.94e-06	7.26e-06	2.194e-05	1.43e-05	0	0	0	2.519e-05	0	0	1.259e-05	0	5.797e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000339	0.45700	D	0.000000	1	0.81001	D	2.15	0.60148	M	1.78	0.25678	T	-4.41	0.77391	D	0.882	0.88027	-0.7359	0.58663	T	0.169	0.50971	T	10	0.78940713	0.78528	D	0.018059	0.39994	T	0.507	0.78786	.	.	0.627131723059	0.62409	0.48419156852991424	0.48339	0.825195395317	0.67364	0.930856704712	0.99035	D	0.148407	0.48694	T	0.130651	0.67424	D	0.152548	0.80346	D	0.89594167470932	0.54758	D	0.942806	0.78426	D	0.6797961	0.76958	0.47831935	0.69780	0.6797961	0.76960	0.47831935	0.69780	-12.241	0.86038	D	.	.	0.987	0.92817	P	.;.;.	.;.;.	6.623923	0.95499	35	0.99957072534136826	0.99981	0.99034	0.90260	D	AEFBI	0.925233	0.90447	D	0.917148318750129	0.92573	11.50192	0.860734437366906	0.93627	12.16956	0.999999999999996	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	8.151000	0.89575	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.721	0.88258	309	0.87553	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2784.33	190	chr6	35291636	.	G	A	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.082;DP=905;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.958;SOR=0.977	GT:AD:DP:GQ:PL	0/1:79,111:190:99:2798,0,1865	18	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	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	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.02632	2234.33	196	chr6	36319517	.	G	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=827;ExcessHet=0;FS=8.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.035;SOR=0.562	GT:AD:DP:GQ:PL	0/1:103,93:196:99:2248,0,2725	18	0	1	0
chr6	36959160	36959160	C	G	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon2:c.C187G:p.L63V,PI16:NM_001199159:exon3:c.C187G:p.L63V	.	434	1087	0	1	0	2	0.000919118	.	.	.	3463338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0220125527082	7.7e-05	.	9.773e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs142992403	3.363e-05	3.352e-05	2.048e-05	4.693e-05	0.0004	2.575e-05	2.319e-05	0.0003	0.0002	0	0	0	0	0	0	1.441e-05	0	0.0004	1.97e-05	1.97e-05	0	4.033e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.045	0.40832	D	0.16	0.31427	T	0.999	0.77913	D	0.981	0.75168	D	0.000749	0.42006	D	0.101480	0.789199	0.34364	D	2.02	0.55341	M	1.66	0.27486	T	-2.55	0.55181	D	0.84	0.83576	-1.0001	0.29888	T	0.087	0.33690	T	10	0.1465804	0.27788	T	0.022013	0.44852	T	0.198	0.48105	.	.	0.225902525712	0.22197	0.8296751636060864	0.82925	1.04960781204	0.76100	0.488903671503	0.37286	T	0.109785	0.42395	T	-0.21401	0.18817	T	-0.204638	0.54206	T	0.279867738485336	0.24166	T	0.840716	0.51609	T	0.4268025	0.62543	0.47093442	0.69323	0.4268025	0.62543	0.47093442	0.69323	-7.978	0.60920	D	.	.	0.509	0.65176	A	.;.;.	.;.;.	4.122457	0.61634	24.4	0.99652520340618278	0.77380	0.84193	0.43276	D	AEFBHCI	0.282773	0.39603	N	0.520163450359876	0.68281	5.195923	0.519868728797181	0.69329	5.344722	0.999926910244636	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.600433	0.31921	0	0.604944	0.38103	0	.	.	5.29	5.29	0.74430	1.770000	0.38162	3.977000	0.40873	0.580000	0.29708	0.936000	0.32490	1.000000	0.68203	0.998000	0.85391	0.0:0.8391:0.0:0.1609	9.365	0.37379	840	0.37365	CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP domain;CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP domain;CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP 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	0.000507	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	979.33	74	chr6	36959160	.	C	G	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.214;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.97;SOR=0.755	GT:AD:DP:GQ:PL	0/1:38,36:74:99:993,0,1067	18	0	1	0
chr6	39419978	39419978	C	G	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon2:c.G133C:p.E45Q,KIF6:NM_001351566:exon2:c.G133C:p.E45Q,KIF6:NM_001289021:exon14:c.G1612C:p.E538Q,KIF6:NM_001289020:exon15:c.G1780C:p.E594Q,KIF6:NM_145027:exon15:c.G1780C:p.E594Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00520028795805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.28772	T	0.439	0.30729	T	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	0.978106	0.39430	D	1.72	0.44442	L	1.16	0.38073	T	-0.92	0.34596	N	0.378	0.51226	-0.9877	0.33175	T	0.160	0.49380	T	9	0.24919984	0.42228	T	0.005	0.13248	T	0.065	0.18881	0.184	0.09259	0.474798811001	0.47109	0.16167391385716678	0.16088	0.197728138392	0.22142	0.570854783058	0.48799	T	0.005347	0.04800	T	-0.058054	0.43211	T	-0.321167	0.42448	T	0.9172043800354	0.57494	D	0.891911	0.62748	D	0.14851189	0.33901	0.13467592	0.32265	0.14851189	0.33901	0.13467592	0.32264	-6.548	0.50655	T	.	.	0.098	0.33133	B	.;.;.;.	.;.;.;.	3.143958	0.42536	21.6	0.9969609997769171	0.80316	0.87449	0.46992	D	AEFBI	0.569991	0.57455	D	0.264622244164058	0.54367	3.602337	0.365944376776792	0.59473	4.125556	0.99998398728663	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	3.309000	0.51613	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.471	0.67096	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	499.33	41	chr6	39419978	.	C	G	499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=663;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.391;SOR=0.313	GT:AD:DP:GQ:PL	0/1:20,21:41:99:513,0,541	18	0	1	0
chr6	41350847	41350847	G	C	exonic	NCR2	.	nonsynonymous SNV	NCR2:NM_004828:exon5:c.G814C:p.D272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00257465414412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.081	0.41742	T	0.868	0.47740	P	0.306	0.41250	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.23	0.18083	T	-0.62	0.18248	N	0.148	0.15046	-1.0014	0.29516	T	0.007	0.02360	T	9	0.09670922	0.17367	T	0.002575	0.05178	T	0.099	0.28413	0.137	0.04097	0.181679512989	0.17746	0.11556526805194643	0.11484	0.502914411381	0.48640	0.252982318401	0.04088	T	0.051616	0.28930	T	-0.338051	0.05524	T	-0.723364	0.04634	T	0.208211634991519	0.20859	T	0.373163	0.08852	T	0.055380765	0.10755	0.050042417	0.07771	0.055380765	0.10755	0.050042417	0.07771	-4.137	0.25833	T	.	.	0.089	0.11989	B	.	.	-0.265248	0.02772	0.375	0.87212729061448258	0.17067	0.00460	0.02218	N	AEFBI	0.032044	0.03545	N	-1.0643477518235	0.07309	0.3391334	-1.26526711059812	0.04909	0.2326728	0.0558052734814749	0.15031	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.47	-3.08	0.05022	-1.059000	0.03589	0.139000	0.15146	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2818:0.2096:0.3025:0.2061	0.416	0.00418	951	0.11083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	168	chr6	41350847	.	G	C	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=901;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.727;SOR=0.68	GT:AD:DP:GQ:PL	0/1:82,86:168:99:2339,0,2048	18	0	1	0
chr6	42721955	42721955	T	C	exonic	PRPH2	.	nonsynonymous SNV	PRPH2:NM_000322:exon1:c.A380G:p.E127G	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	962026	PRPH2-related_disorder|not_provided|Stargardt_disease|Cone-rod_dystrophy	MedGen:CN239395|MedGen:C3661900|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0771473730821	.	0.000399361	0.0005	0	8.64e-05	0.0001	0	1.498e-05	0	0.0032	0.0003752	58	154602	rs543703718	0.0002	0.0002	9.528e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.236e-05	0	2.519e-05	0	0.0002	1.799e-05	0.0001	0.0029	9.855e-05	9.845e-05	7.714e-05	0.0001	0.0025	6.006e-05	4.879e-05	0.0014	0.0011	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.008	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	0.000005	0.62929	D	0.144074	0.999997	0.58761	D	.	.	.	-1.39	0.80387	T	-4.22	0.75854	D	0.207	0.22998	-0.2412	0.76595	T	0.452	0.78597	T	10	0.01619196	0.00341	T	0.077147	0.72702	D	0.451	0.75143	0.521	0.62368	0.910693639176	0.90979	0.7347325705043225	0.73418	0.487374460136	0.47561	0.426002860069	0.28661	T	.	.	.	-0.223103	0.17570	T	-0.0978635	0.63563	T	0.133662187312463	0.15716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.39999	B	.	.	3.643317	0.51665	23.1	0.99852907423280257	0.93191	0.99530	0.97121	D	AEFDBI	0.928544	0.91292	D	0.348703693679775	0.58671	4.040817	0.478499057057429	0.66567	4.968994	0.999999999997072	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	6.240000	0.72321	6.112000	0.53677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	16.643	0.84991	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	9702.33	768	chr6	42721955	.	T	C	9702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.365;DP=2296;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.107;SOR=0.748	GT:AD:DP:GQ:PL	0/1:401,367:768:99:9716,0,10508	18	0	1	0
chr6	42890674	42890674	T	G	exonic	C6orf226	.	nonsynonymous SNV	C6orf226:NM_001008739:exon1:c.A115C:p.K39Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00483627572373	.	0.000798722	0.0003	0	0	0	0	0	0	0.0020	0.0002393	37	154602	rs532610402	0.0001	0.0001	6.404e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	2.988e-05	0	0	0	0	0	0	8.284e-05	0.0021	9.851e-05	9.843e-05	7.71e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0.0005	0.0029	0.031	0.45039	D	0.096	0.39340	T	0.013	0.16609	B	0.021	0.19346	B	0.599949	0.10968	N	0.781066	0.999479	0.21134	N	1.15	0.29295	L	.	.	.	-2.83	0.59710	D	0.151	0.15469	-0.9906	0.32449	T	0.024	0.10013	T	9	0.0059550703	0.00134	T	0.004836	0.12098	T	0.067	0.19503	0.162	0.06618	0.148003135375	0.14442	0.03278602376610636	0.03226	0.0825183256142	0.09310	.	.	.	0.00182	0.01242	T	-0.502061	0.00557	T	-0.500737	0.22271	T	0.0439379826312299	0.04410	T	0.408059	0.10511	T	0.39588594	0.60446	0.24196266	0.49606	0.39588594	0.60447	0.24196266	0.49605	-1.235	0.01301	T	.	.	0.123	0.25850	B	.	.	2.639067	0.34336	19.60	0.74376387192461468	0.10672	0.72180	0.35339	D	ALL	0.111101	0.22008	N	-0.56638134815921	0.19972	1.049481	-0.424679999332459	0.24276	1.32843	0.999999999999989	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.15	3.96	0.45097	1.175000	0.31553	0.684000	0.20706	0.559000	0.28343	0.877000	0.30928	0.520000	0.25304	0.373000	0.26178	0.0:0.0:0.1889:0.8111	8.870	0.34465	363	0.84772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	964.33	90	chr6	42890674	.	T	G	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=702;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.057;SOR=0.76	GT:AD:DP:GQ:PL	0/1:51,39:90:99:978,0,1504	18	0	1	0
chr6	43337521	43337521	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon10:c.T6477A:p.N2159K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00703308521123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.29	0.21011	T	0.589	0.39027	P	0.083	0.29179	B	0.041590	0.23933	N	0.403001	1	0.08975	N	1.525	0.38595	L	2.75	0.11622	T	-0.24	0.10833	N	0.157	0.16308	-0.9279	0.44444	T	0.005	0.01725	T	10	0.051739097	0.05101	T	0.007033	0.18621	T	0.037	0.09474	0.169	0.07419	0.12205267543	0.11705	0.0875118668446729	0.08684	0.126435533476	0.14255	0.3217702806	0.13690	T	0.014225	0.12151	T	-0.367268	0.03735	T	-0.765331	0.02925	T	0.117010288080907	0.14134	T	0.533547	0.17787	T	0.054480344	0.10457	0.04939154	0.07539	0.054480344	0.10457	0.04939154	0.07539	-3.641	0.18452	T	.	.	0.155	0.34250	B	.	.	1.227869	0.16223	12.40	0.96124789220383944	0.28787	0.09339	0.15115	N	AEFGBCI	0.057273	0.10653	N	-0.647866508663	0.17523	0.9023857	-0.681153808133069	0.17432	0.9269034	0.999998629402199	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.81	2.68	0.30839	-0.098000	0.10993	1.124000	0.24269	0.756000	0.94297	0.000000	0.06391	0.989000	0.31174	0.649000	0.32665	0.5558:0.0:0.2755:0.1687	4.072	0.09366	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	116	chr6	43337521	.	A	T	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=787;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.58;SOR=0.567	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1663,0,1583	18	0	1	0
chr6	43444254	43444254	A	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon10:c.A2506G:p.K836E,ABCC10:NM_001198934:exon12:c.A2590G:p.K864E,ABCC10:NM_001350518:exon12:c.A1258G:p.K420E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00710439770183	0.0026	0.000199681	0.0017	0.0009	0.0003	0	0.0015	0.0024	0.0011	0.0012	0.001824	282	154602	rs138057759	0.0027	0.0027	0.0027	0.0027	0.0032	0.0026	0.0026	0.0031	0.0031	0.0005	0.0005	0.0008	0	0.0019	0.0002	0.0032	0.0017	0.0010	0.0016	0.0016	0.0017	0.0014	0.0027	0.0014	0.0014	0.0023	0.0022	0.0007	0.0011	0.0005	0.0003	0	0.0016	0	0.0027	0.0019	0.0006	1.0	0.00964	T	0.754	0.04737	T	0.001	0.12183	B	0.003	0.15521	B	0.000346	0.45440	D	0.229199	0.746296	0.29684	N	.	.	.	0.98	0.42122	T	0.87	0.02480	N	0.168	0.19055	-1.0056	0.28277	T	0.017	0.06759	T	10	0.006609738	0.00150	T	0.007104	0.18814	T	0.079	0.23065	.	.	0.466486631293	0.46274	0.4218287917242032	0.42098	0.27290702072	0.29797	0.364972054958	0.20107	T	0.04347	0.26512	T	-0.44712	0.01174	T	-0.416189	0.31512	T	0.0212949838539431	0.00831	T	0.80172	0.45238	T	0.08698423	0.20237	0.10163959	0.24337	0.08698423	0.20237	0.10163959	0.24337	-3.371	0.14669	T	.	.	0.105	0.28145	B	.;.	.;.	2.909717	0.38592	20.8	0.86425094039345196	0.16527	0.93491	0.58361	D	AEFDGBIJ	0.424832	0.48985	N	-0.50460137054547	0.21930	1.167474	-0.250136584995776	0.29767	1.670406	0.999863966478521	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.66	0.57857	2.510000	0.45129	4.575000	0.43896	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7212:0.2788:0.0:0.0	11.811	0.51454	395	0.83006	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1490.33	153	chr6	43444254	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=794;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.768;SOR=0.527	GT:AD:DP:GQ:PL	0/1:89,64:153:99:1504,0,2135	18	0	1	0
chr6	44286034	44286034	T	C	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon3:c.A776G:p.N259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.011126002251	.	0.000399361	1.649e-05	0	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs185170524	7.537e-06	8.893e-06	6.818e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	0.0001	0.0001	0	0.0002	0	0	0	0	0	0	0	3.291e-05	3.284e-05	1.288e-05	5.387e-05	0.0003	1.263e-05	7.99e-06	0.0001	8.294e-05	0	0	0.0003	0	0	0	0	0	0	0	0.454	0.10245	T	0.272	0.29249	T	0.217	0.30183	B	0.033	0.22329	B	0.000212	0.47681	D	0.248154	0.988777	0.81001	D	.	.	.	0.07	0.61677	T	-2.37	0.52289	N	0.118	0.12341	-1.0369	0.18264	T	0.074	0.29802	T	10	0.03868395	0.02304	T	0.011126	0.28436	T	0.133	0.36157	.	.	0.194818534648	0.19098	0.21681489854066419	0.21597	0.288202736158	0.31226	0.387309551239	0.23290	T	0.021205	0.16557	T	-0.360323	0.04112	T	-0.579508	0.14588	T	0.168698340654373	0.18492	T	0.846215	0.57103	T	0.06270953	0.13127	0.09149877	0.21516	0.06270953	0.13127	0.09149877	0.21515	-2.374	0.04976	T	.	.	0.127	0.37121	B	.;.	.;.	1.788838	0.22740	15.74	0.97498251412866666	0.34283	0.14150	0.18249	N	AEFBCI	0.229351	0.35289	N	-0.138695286523636	0.35716	2.055125	0.00331579402422016	0.39870	2.370523	0.012991485605714	0.12402	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	1.269000	0.32677	5.116000	0.47551	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.079:0.0:0.921	10.600	0.44552	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	74.01	156	chr6	44286034	.	T	C	74.01	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.846;DP=1365;ExcessHet=0.119;FS=88.176;InbreedingCoeff=-0.0544;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.22;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,20:156:14:0|1:44286030_G_C:14,0,5180:44286030	17	0	2	0
chr6	46165545	46165545	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_001290073:exon3:c.A566G:p.Y189C,ENPP5:NM_021572:exon3:c.A848G:p.Y283C,ENPP5:NM_001290072:exon4:c.A848G:p.Y283C	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	.	0.0002	0.00878594	0.0042	0.0002	0	0.0542	0	0	0.0024	0.0011	0.0037128	574	154602	rs16874326	0.0015	0.0014	0.0015	0.0014	0.0447	0.0014	0.0014	0.0429	0.0422	0.0001	0.0002	0	0.0447	1.908e-05	0.0004	3.454e-05	0.0033	0.0011	0.0019	0.0019	0.0016	0.0022	0.0480	0.0017	0.0016	0.0431	0.0412	0.0003	0	0.0003	0	0.0480	0	0	7.351e-05	0.0014	0.0031	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.063755	0.991788	0.41474	D	3.555	0.93317	H	-1.03	0.76430	T	-6.58	0.91956	D	0.777	0.79889	0.403	0.89140	D	0.636	0.87258	D	10	0.005901158	0.00132	T	.	.	.	0.565	0.82232	.	.	0.847175020424	0.84571	0.800071460652037	0.79961	0.694992629652	0.60793	0.553568005562	0.46361	T	0.142456	0.47806	T	-0.137128	0.30348	T	0.0712282	0.74991	D	0.150421059239426	0.17137	T	0.890111	0.62362	D	0.9484006	0.96104	0.8227801	0.89717	0.9484006	0.96104	0.8227801	0.89717	-10.184	0.75006	D	.	.	0.130	0.30608	B	.;.	.;.	5.045569	0.84013	28.2	0.99700178427410679	0.80591	0.96121	0.67629	D	AEFBI	0.624371	0.60796	D	0.758221850222071	0.83440	8.017956	0.667393288604577	0.79911	7.183709	0.00127462043884895	0.08400	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.77	4.54	0.55220	2.112000	0.41516	5.031000	0.46827	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1919:0.0:0.1092:0.6989	8.667	0.33287	845	0.36510	.;.	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1128.33	108	chr6	46165545	.	T	C	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=728;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.258;SOR=1.049	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1142,0,1670	18	0	1	0
chr6	46688620	46688620	G	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G492T:p.K164N,TDRD6:NM_001168359:exon1:c.G492T:p.K164N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0195890948391	.	0.00139776	0.0003	0	0	0.0046	0	1.622e-05	0	0	0.000304	47	154602	rs184343332	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0123	0.0119	0	0	0	0.0132	0	0.0002	4.497e-06	4.976e-05	0	0.0002	0.0002	8.993e-05	0.0002	0.0043	0.0001	8.712e-05	0.0029	0.0024	0	0	6.533e-05	0	0.0043	0	0	0	0	0	0.006	0.61437	D	0.01	0.65728	D	0.969	0.56768	D	0.642	0.52168	P	0.809345	0.09263	N	0.913645	0.858416	0.28393	N	2.645	0.77386	M	2.31	0.16794	T	-2.11	0.48020	N	0.341	0.38232	-1.0711	0.09173	T	0.037	0.16116	T	10	0.008818179	0.00200	T	0.019589	0.41992	T	0.059	0.16972	0.368	0.37687	0.484329738948	0.48065	0.7342469212029396	0.73369	0.188060966055	0.21130	0.620627462864	0.55818	T	0.216675	0.57891	T	-0.600942	0.00144	T	-0.636827	0.09903	T	0.182547897540404	0.19395	T	0.744226	0.36418	T	0.25243923	0.48259	0.1993276	0.43809	0.25243923	0.48259	0.1993276	0.43808	-8.578	0.64944	D	.	.	0.587	0.69337	P	.;.	.;.	3.182994	0.43212	21.7	0.99538795497657917	0.70336	0.95155	0.63640	D	AEFDBI	0.307674	0.41448	N	0.183005961142792	0.50382	3.228846	0.129277200963509	0.46053	2.857729	2.15964581729737E-4	0.05997	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.47	2.74	0.31352	0.542000	0.22930	2.237000	0.31580	0.590000	0.31872	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.3669:0.0:0.6331:0.0	8.433	0.31930	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1444.33	93	chr6	46688620	.	G	T	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=781;ExcessHet=0;FS=1.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.631;SOR=0.534	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1458,0,989	18	0	1	0
chr6	46693980	46693980	A	G	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.A5852G:p.D1951G,TDRD6:NM_001168359:exon1:c.A5852G:p.D1951G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0123738722209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.207	0.26969	T	0.012	0.16265	B	0.007	0.12992	B	0.087088	0.20552	N	0.455228	0.818384	0.34740	D	1.7	0.43825	L	2.46	0.14907	T	-1.27	0.31981	N	0.195	0.21449	-0.9790	0.35231	T	0.106	0.38685	T	10	0.14919606	0.28240	T	0.012374	0.30882	T	0.046	0.12618	0.252	0.19067	0.510230903827	0.50662	0.2566780910250505	0.25581	0.0344876997802	0.03621	0.267914801836	0.05871	T	0.03864	0.24909	T	-0.215698	0.18584	T	-0.547612	0.17555	T	0.664186716079712	0.39080	D	0.553645	0.19140	T	0.06974133	0.15305	0.065315686	0.13219	0.06974133	0.15304	0.065315686	0.13218	-3.869	0.22212	T	.	.	0.091	0.13221	B	.;.	.;.	1.965718	0.24968	16.59	0.98377634903682587	0.40822	0.65283	0.32685	D	AEFDBI	0.127788	0.24530	N	0.0405839693542937	0.43711	2.658685	0.0608810528482297	0.42601	2.579553	0.00248515008301428	0.09470	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.56	4.38	0.52019	1.857000	0.39038	3.853000	0.40098	0.756000	0.94297	0.926000	0.32145	0.996000	0.32793	0.077000	0.17074	0.91:0.0:0.09:0.0	8.622	0.33028	562	0.71143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2632.33	184	chr6	46693980	.	A	G	2632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.521;DP=1281;ExcessHet=0;FS=4.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.349;SOR=0.936	GT:AD:DP:GQ:PL	0/1:88,96:184:99:2646,0,2370	18	0	1	0
chr6	47710807	47710807	T	C	exonic	ADGRF4	.	nonsynonymous SNV	ADGRF4:NM_001347855:exon4:c.T221C:p.I74T,ADGRF4:NM_153838:exon4:c.T221C:p.I74T	.	431	1090	1	0	0	1	0.000458505	.	.	.	3248062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00822618377372	.	0.000199681	9.893e-05	9.634e-05	0	0.0008	0	2.999e-05	0	0.0001	9.06e-05	14	154602	rs554308397	5.884e-05	5.883e-05	4.766e-05	7.014e-05	0.0006	4.877e-05	4.497e-05	0.0004	0.0003	2.989e-05	2.237e-05	7.653e-05	0.0006	0	0.0002	4.497e-05	4.968e-05	5.798e-05	5.253e-05	5.25e-05	7.711e-05	2.686e-05	0.0008	2.556e-05	1.829e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0008	0	0	4.41e-05	0	0	0.089	0.32141	T	0.118	0.36233	T	0.014	0.16867	B	0.019	0.18783	B	0.000119	0.50451	D	0.141124	0.876452	0.28122	N	.	.	.	1.53	0.35031	T	-2.61	0.56144	D	0.194	0.21319	-1.0807	0.07214	T	0.033	0.14203	T	10	0.060506552	0.07443	T	0.008226	0.21801	T	0.118	0.32913	0.568	0.69034	0.394079506076	0.39022	0.515185705291655	0.51441	0.145038065069	0.16392	0.495091199875	0.38144	T	0.042371	0.26162	T	-0.376768	0.03264	T	-0.415944	0.31542	T	0.0469865709608589	0.04962	T	0.60024	0.22396	T	0.17209229	0.37881	0.17228344	0.39472	0.17209229	0.37881	0.17228344	0.39471	-5.039	0.37261	T	.	.	0.108	0.20586	B	.;.;.	.;.;.	2.769179	0.36341	20.2	0.98581888389336036	0.43258	0.71381	0.34989	D	AEFBI	0.227796	0.35155	N	-0.0861628127825727	0.38000	2.218973	0.0998010641741129	0.44538	2.733726	0.0260200169052623	0.13685	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.475000	0.44821	7.878000	0.72341	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.0843:0.0:0.9157	8.829	0.34233	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1383.33	107	chr6	47710807	.	T	C	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=798;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1397,0,1171	18	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:239,51:290:99:.:.:533,0,8935:.	5	0	6	8
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	1871.38	277	chr6	52403970	.	C	G	1871.38	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:238,28:277:99:.:.:439,0,8936:.	13	0	4	2
chr6	70149995	70149995	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon30:c.G1987A:p.V663I	.	326	1193	3	0	0	3	0.00125576	.	.	.	2375915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.00390428766847	0.0002	0.000199681	0.0002	0	0.0003	0	0.0002	0.0002	0.0011	6.057e-05	0.0001552	24	154602	rs374739394	0.0002	0.0002	0.0001	0.0002	0.0076	0.0001	0.0001	0.0059	0.0052	0.0003	0.0002	0	2.519e-05	1.872e-05	0.0076	0.0001	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	7.22e-05	0	0.0001	0	0	0.0002	0.0068	0.0002	0.0005	0.0002	.	.	.	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	0.049023	0.23198	N	0.451844	0.999903	0.21317	N	0.77	0.19370	N	.	.	.	.	.	.	0.286	0.32370	-0.6813	0.61312	T	0.342	0.70729	T	10	0.053973645	0.05674	T	0.003904	0.09180	T	.	.	.	.	0.510113526977	0.50651	0.1255750887274636	0.12483	.	.	0.310839295387	0.12033	T	0.28608	0.65887	T	-0.525218	0.00410	T	-0.647278	0.09146	T	0.024486644904682	0.01206	T	0.918808	0.70803	D	0.034318022	0.03828	0.046936072	0.06651	0.034318022	0.03828	0.046936072	0.06651	-3.683	0.19067	T	.	.	0.068	0.02670	B	.	.	1.281749	0.16815	12.78	0.89055230141566777	0.18473	0.59777	0.31009	D	AEFDBI	0.130515	0.24909	N	-0.412278269784927	0.25037	1.356259	-0.215055087297381	0.30995	1.750085	0.00563786042245497	0.10999	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	4.23	0.49319	0.008000	0.13095	2.446000	0.32792	0.676000	0.76740	0.373000	0.25949	1.000000	0.68203	0.967000	0.53440	0.1883:0.0:0.5133:0.2984	4.402	0.10819	722	0.55239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	881.33	51	chr6	70149995	.	G	A	881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=670;ExcessHet=0;FS=6.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=-1.361;SOR=1.737	GT:AD:DP:GQ:PL	0/1:20,31:51:99:895,0,529	18	0	1	0
chr6	73762747	73762747	G	T	exonic	CD109	.	stopgain	CD109:NM_001159588:exon8:c.G631T:p.G211X,CD109:NM_001159587:exon9:c.G862T:p.G288X,CD109:NM_133493:exon9:c.G862T:p.G288X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.679e-05	0	8.69e-05	0	0	1.516e-05	0	0	1.29e-05	2	154602	rs765239774	6.228e-06	6.157e-06	5.509e-06	6.953e-06	2.369e-05	2.93e-06	2.12e-06	1.33e-06	9.7e-07	0	2.369e-05	0	0	0	0	4.532e-06	3.342e-05	1.201e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	0.165126	0.17541	N	0.619046	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.848	0.86511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	10.368754	0.99715	47	0.99120391768912874	0.52985	0.97271	0.73709	D	AEFBI	0.077802	0.15683	N	1.0530588050504	0.97161	15.68199	0.894989490713847	0.95351	13.53938	0.998121563446725	0.36460	0.732398	0.92422	0	0.588015	0.36545	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.06	5.06	0.67838	4.415000	0.59561	11.417000	0.92705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.348	0.87202	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	74	chr6	73762747	.	G	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.547;DP=715;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.169;SOR=1.162	GT:AD:DP:GQ:PL	0/1:41,33:74:99:850,0,1068	18	0	1	0
chr6	75308857	75308857	C	T	exonic	FILIP1	.	nonsynonymous SNV	FILIP1:NM_001300866:exon6:c.G3476A:p.R1159H,FILIP1:NM_015687:exon6:c.G3476A:p.R1159H,FILIP1:NM_001289987:exon7:c.G3485A:p.R1162H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.028478602147	0.0002	.	0.0003	9.612e-05	0	0.0002	0.0003	0.0004	0.0022	0	0.000207	32	154602	rs147152005	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0004	0.0008	0.0006	5.978e-05	6.708e-05	0	2.519e-05	9.36e-05	0.0016	0.0005	0.0001	8.117e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	6.539e-05	0	0	0.0002	0.0034	0.0006	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	1.37	0.34841	T	-1.06	0.29933	N	0.899	0.89912	-0.8723	0.50356	T	0.184	0.53315	T	10	0.58991796	0.66321	D	0.028479	0.51148	D	0.249	0.55752	.	.	0.891455236297	0.89038	0.585145658848015	0.58444	0.803877725872	0.66374	0.74348294735	0.73485	T	0.01099	0.11321	T	-0.0285683	0.47626	T	0.0946376	0.76553	D	0.252456343664935	0.22983	T	0.961304	0.87984	D	0.31476608	0.54195	0.26901206	0.52777	0.31476608	0.54195	0.26901206	0.52776	-4.302	0.29448	T	.	.	0.904	0.83043	P	.;.;.	.;.;.	5.410057	0.90561	31	0.99950520549785438	0.99938	0.99676	0.98575	D	AEFDBI	0.959968	0.98055	D	0.845641066140618	0.88857	9.739497	0.852583273944985	0.93165	11.866	0.999999999999999	0.74766	0.740787	0.97801	0	0.491513	0.07743	0	0.767554	0.98243	0	0.579976	0.35079	0	.	.	5.91	5.91	0.95240	7.565000	0.81337	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.290	0.98543	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	.	.	.	.	.	.	.	.	0.02632	1486.33	136	chr6	75308857	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.8;SOR=0.659	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1500,0,1666	18	0	1	0
chr6	89868265	89868265	C	T	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_001137668:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_012115:exon8:c.C4975T:p.P1659S	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0291534	0.0105	0.0008	0.0177	0.1085	0.0023	0.0008	0.0090	0.0023	0.0101874	1575	154602	rs3799896	0.0028	0.0024	0.0030	0.0027	0.1067	0.0028	0.0027	0.1026	0.1009	0.0005	0.0164	0.0018	0.1067	0.0023	0.0013	0.0004	0.0072	0.0027	0.0060	0.0060	0.0057	0.0062	0.1050	0.0056	0.0055	0.0977	0.0948	0.0007	0	0.0136	0.0017	0.1050	0.0014	0	0.0008	0.0080	0.0069	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016213357	0.00019	T	.	.	.	.	.	.	.	.	.	0.22571940090601839	0.22486	.	.	0.248459517956	0.03608	T	0.010839	0.09742	T	-0.589003	0.00170	T	-0.531986	0.19090	T	.	.	.	0.649435	0.26018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.	.	0.185563	0.05725	2.170	0.6524254116240058	0.07718	0.07235	0.13259	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.0107814309476636	0.12081	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.322829	0.05601	0	0.331571	0.35722	5.63	0.726	0.17401	-0.384000	0.07447	-0.007000	0.13116	0.549000	0.26987	0.001000	0.13787	0.005000	0.19230	0.800000	0.37734	0.176:0.3171:0.0:0.5069	3.758	0.08118	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.006098	0.003788	0.05263	3755.83	141	chr6	89868265	.	C	T	3755.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.43;DP=918;ExcessHet=0.119;FS=6.257;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.526;SOR=0.764	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1912,0,1972	17	0	2	0
chr6	99400715	99400715	C	T	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.G2189A:p.S730N,PNISR:NM_001322408:exon11:c.G2243A:p.S748N,PNISR:NM_001322413:exon11:c.G2243A:p.S748N,PNISR:NM_001322414:exon11:c.G2189A:p.S730N,PNISR:NM_015491:exon11:c.G2243A:p.S748N,PNISR:NM_001322405:exon12:c.G2243A:p.S748N,PNISR:NM_001322410:exon12:c.G2243A:p.S748N,PNISR:NM_001322412:exon12:c.G2243A:p.S748N,PNISR:NM_032870:exon12:c.G2243A:p.S748N,PNISR:NM_001322406:exon13:c.G2243A:p.S748N	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00648118169912	0.0039	0.00159744	0.0041	0.0013	0.0016	0	0.0042	0.0063	0.0044	0.0005	0.003978	615	154602	rs150453789	0.0052	0.0052	0.0053	0.0050	0.0061	0.0051	0.0050	0.0060	0.0059	0.0007	0.0029	0.0004	0	0.0059	0.0003	0.0061	0.0042	0.0006	0.0037	0.0037	0.0037	0.0037	0.0055	0.0035	0.0034	0.0050	0.0048	0.0012	0	0.0054	0	0	0.0048	0	0.0055	0.0047	0.0006	0.0	0.91255	D	0.116	0.36497	T	0.59	0.39078	P	0.333	0.42166	B	0.000000	0.84330	D	0.037732	1	0.81001	D	0.975	0.24501	L	.	.	.	-1.06	0.27669	N	0.237	0.27792	-0.9061	0.47320	T	0.124	0.42820	T	9	0.0067364275	0.00153	T	0.006481	0.17072	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.028676196240876656	0.02817	0.314442072564	0.33727	0.719128131866	0.69920	T	0.030485	0.21597	T	-0.400893	0.02284	T	-0.34067	0.40269	T	0.0521780411319698	0.05879	T	0.842916	0.51943	T	0.6248412	0.74022	0.5477151	0.73853	0.6248412	0.74023	0.5477151	0.73854	-4.536	0.31356	T	.	.	0.119	0.25000	B	.;.;.	.;.;.	3.750229	0.53753	23.4	0.98171867708047988	0.38865	0.97916	0.78101	D	AEFBI	0.618530	0.60430	D	0.305529441201352	0.56434	3.807886	0.427541922094277	0.63288	4.559461	0.999999997188226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	5.512000	0.66748	7.509000	0.59594	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.392	0.94578	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1576.33	110	chr6	99400715	.	C	T	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=1.27;SOR=0.762	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1590,0,1278	18	0	1	0
chr6	107707952	107707952	C	T	exonic	SCML4	.	nonsynonymous SNV	SCML4:NM_001286409:exon3:c.G307A:p.A103T,SCML4:NM_001286408:exon6:c.G859A:p.A287T,SCML4:NM_198081:exon7:c.G1033A:p.A345T	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00858301019451	.	0.000399361	4.71e-05	0	0	0.0017	0	0	0	0	2.59e-05	4	154602	rs575790237	8.147e-05	7.867e-05	7.756e-05	8.549e-05	0.0007	6.894e-05	6.416e-05	0.0003	0.0003	3.165e-05	0.0002	0	0.0005	2.032e-05	0.0007	6.395e-05	0.0002	1.262e-05	8.536e-05	8.531e-05	0.0001	6.716e-05	0.0004	4.954e-05	3.96e-05	6.857e-05	3.046e-05	0.0001	0	0.0001	0	0.0004	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	0.837	0.07015	T	0.0	0.02946	B	0.001	0.04355	B	0.029820	0.25400	N	0.382739	0.998937	0.22276	N	-1.56	0.00457	N	0.85	0.47130	T	1.88	0.00544	N	0.033	0.01068	-1.0010	0.29631	T	0.014	0.05417	T	10	0.009048402	0.00205	T	0.008583	0.22680	T	0.054	0.15330	0.358	0.36060	0.20549828249	0.20151	0.22678872173209427	0.22593	0.14773765096	0.16671	0.288555026054	0.08712	T	0.005947	0.05392	T	-0.652888	0.00070	T	-0.745983	0.03644	T	0.0368130745021653	0.03123	T	0.566543	0.20051	T	0.024495635	0.01287	0.04979614	0.07685	0.024495635	0.01287	0.04979614	0.07685	0.992	0.00133	T	.	.	0.059	0.00890	B	.;.;.	.;.;.	1.749326	0.22256	15.55	0.72215472875842623	0.09896	0.26600	0.23039	N	AEFDBI	0.069402	0.13736	N	-0.830688185573312	0.12529	0.611357	-0.553484068655384	0.20713	1.11725	0.480272500865104	0.20780	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	3.0	0.33773	3.116000	0.50092	3.415000	0.38214	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.1464:0.0:0.8536	9.351	0.37298	754	0.51307	.;Sterile alpha motif domain|Sterile alpha motif domain;Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001147	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2364.33	234	chr6	107707952	.	C	T	2364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=1260;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.16;SOR=0.738	GT:AD:DP:GQ:PL	0/1:133,101:234:99:2378,0,3155	18	0	1	0
chr6	108663815	108663815	A	G	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.A982G:p.M328V,FOXO3:NM_201559:exon3:c.A982G:p.M328V	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0342095061799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.474e-06	6.156e-06	2.723e-06	8.252e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	2.52e-05	0	0	1.799e-06	0	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.51853	T	0.041	0.58613	D	0.004	0.12183	B	0.004	0.10090	B	0.000519	0.43753	D	0.202165	0.990216	0.24200	N	1.67	0.42885	L	-2.63	0.90083	D	-1.6	0.39314	N	0.169	0.18376	-0.6776	0.61483	T	0.351	0.71462	T	10	0.07462874	0.11432	T	0.03421	0.55518	D	0.164	0.42212	0.315	0.29096	0.538005241053	0.53452	0.2045417119538611	0.20371	.	.	0.453066557646	0.32363	T	0.515059	0.82932	D	-0.07682	0.40229	T	-0.348123	0.39421	T	0.0695363045205674	0.08585	T	0.79722	0.49813	T	0.0839851	0.19417	0.109157376	0.26304	0.0839851	0.19417	0.109157376	0.26303	-4.125	0.48999	T	.	.	0.070	0.04975	B	.;.;.	.;.;.	1.847595	0.23471	16.03	0.89097312299978959	0.18508	0.24848	0.22520	N	AEFDGBI	0.191575	0.31876	N	-0.836977751325793	0.12373	0.6027009	-0.772136352431903	0.15179	0.7970285	0.986583714739476	0.31089	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	0.672	0.17103	-0.215000	0.09284	0.627000	0.20189	-0.145000	0.12313	0.068000	0.22015	0.998000	0.33993	0.792000	0.37394	0.2508:0.4257:0.0:0.3236	4.343	0.10558	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2016.33	168	chr6	108663815	.	A	G	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.999;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.41;MQRankSum=-2.68;QD=12;ReadPosRankSum=-1.864;SOR=0.651	GT:AD:DP:GQ:PL	0/1:90,78:168:99:2030,0,2600	18	0	1	0
chr6	110101728	110101728	G	A	exonic	WASF1	.	nonsynonymous SNV	WASF1:NM_001024936:exon8:c.C1382T:p.T461I,WASF1:NM_001024934:exon9:c.C1382T:p.T461I,WASF1:NM_001024935:exon9:c.C1382T:p.T461I,WASF1:NM_003931:exon10:c.C1382T:p.T461I	.	423	1093	6	0	0	6	0.00273723	.	.	.	2820626	not_provided|Neurodevelopmental_disorder_with_absent_language_and_variable_seizures|WASF1-related_disorder	MedGen:C3661900|MONDO:MONDO:0032876,MedGen:C5231469,OMIM:618707|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00129580696571	0.0011	0.000798722	0.0011	0	0.0010	0	0	0.0013	0.0011	0.0020	0.0011061	171	154602	rs142151316	0.0014	0.0014	0.0014	0.0014	0.0095	0.0013	0.0013	0.0075	0.0068	0.0003	0.0013	0.0002	0	3.744e-05	0.0095	0.0015	0.0011	0.0020	0.0011	0.0010	0.0011	0.0010	0.0027	0.0009	0.0009	0.0016	0.0014	0.0003	0	0.0022	0.0003	0	0	0.0136	0.0014	0	0.0027	0.346	0.12469	T	0.432	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.403076	0.13098	N	0.754903	0.872816	0.28179	N	-0.345	0.03330	N	0.87	0.46412	T	-0.24	0.10833	N	0.088	0.10198	-1.0602	0.11706	T	0.029	0.12278	T	10	0.00537017	0.00118	T	0.001296	0.01784	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.1895082179061291	0.18868	0.602311428291	0.55246	0.559659183025	0.47219	T	0.054702	0.29799	T	-0.58925	0.00169	T	-0.61824	0.11323	T	0.0173724462642495	0.00475	T	0.660634	0.26999	T	0.030900199	0.02834	0.060056202	0.11374	0.03827701	0.05070	0.053160295	0.08900	-4.185	0.26534	T	.	.	0.085	0.10062	B	.;.;.;.;.	.;.;.;.;.	2.902055	0.38468	20.7	0.98986952026603792	0.49861	0.81325	0.40752	D	AEFDGBCI	0.265734	0.38280	N	-0.100797120824148	0.37357	2.172314	0.146155745931788	0.46938	2.931797	0.999317816202909	0.39113	0.706548	0.73137	0	0.659037	0.61890	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	1.759000	0.38049	7.532000	0.59933	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.1516:0.0:0.8484:0.0	10.248	0.42532	567	0.70732	.;.;.;.;.	.	.	.	.	.	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1941.33	130	chr6	110101728	.	G	A	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.273;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.45;SOR=0.725	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1955,0,1423	18	0	1	0
chr6	117383460	117383460	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon16:c.G2353A:p.V785M,ROS1:NM_001378891:exon17:c.G2338A:p.V780M,ROS1:NM_001378902:exon17:c.G2338A:p.V780M	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0681430558719	.	.	1.647e-05	0	0	0.0001	0	0	0	6.056e-05	1.94e-05	3	154602	rs763408803	6.157e-06	6.84e-06	5.445e-06	6.876e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	3.165e-05	0	0	0	0.0001	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.001	0.83351	D	0.999	0.77913	D	0.94	0.67560	D	0.003247	0.35212	N	0.126462	1	0.08975	N	1.04	0.26193	L	-2.87	0.91478	D	-1.0	0.26422	N	0.528	0.57690	0.353	0.88379	D	0.613	0.86292	D	10	0.45883724	0.59158	T	0.068143	0.70367	D	0.411	0.72252	.	.	0.594283004778	0.59106	0.3067876354728958	0.30591	0.20153445372	0.22553	0.603208482265	0.53357	T	0.102655	0.41059	T	-0.0455175	0.45125	T	-0.134031	0.60630	T	0.805189609527588	0.46710	D	0.852415	0.53747	D	0.09912905	0.23390	0.11242474	0.27127	0.09912905	0.23390	0.11242474	0.27126	-6.413	0.49610	T	0.7205727786744762	0.80165	0.278	0.55644	B	.;.	.;.	4.487747	0.70070	25.5	0.99899695420435364	0.97199	0.67788	0.33560	D	AEFBI	0.209652	0.33562	N	0.367580241732073	0.59672	4.148781	0.343089124134449	0.58092	3.977874	0.0621793507433651	0.15255	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.57	3.68	0.41359	3.885000	0.55896	4.654000	0.44209	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.770000	0.36519	0.0:0.9065:0.0:0.0935	11.018	0.46917	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1558.33	161	chr6	117383460	.	C	T	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-1.278;SOR=0.658	GT:AD:DP:GQ:PL	0/1:94,67:161:99:1572,0,2117	18	0	1	0
chr6	125759470	125759470	A	G	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon5:c.A682G:p.T228A	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00729130553323	.	0.00139776	0.0004	0.0001	0	0	0	0.0002	0.0011	0.0022	0.000401	62	154602	rs139750401	0.0004	0.0004	0.0003	0.0005	0.0035	0.0003	0.0003	0.0024	0.0023	5.974e-05	6.708e-05	3.827e-05	0	0	0.0035	0.0002	0.0004	0.0027	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	2.413e-05	0	0	0	0	0	0	0.0002	0.0005	0.0025	0.475	0.09048	T	0.795	0.08961	T	0.0	0.02946	B	0.001	0.04355	B	0.153660	0.17886	N	0.448895	0.923344	0.39590	D	1.15	0.29295	L	0.35	0.58029	T	-0.72	0.22727	N	0.094	0.09490	-1.0914	0.05303	T	0.042	0.18118	T	10	0.0071214437	0.00162	T	0.007291	0.19334	T	0.095	0.27398	.	.	0.483301346737	0.47961	0.4957109975453682	0.49492	0.401196355383	0.41103	0.731803894043	0.71769	T	0.154818	0.49628	T	-0.472175	0.00824	T	-0.455327	0.27111	T	0.0180938688074911	0.00532	T	0.689231	0.29860	T	0.08754041	0.20388	0.061756387	0.11975	0.08754041	0.20388	0.061756387	0.11975	-1.692	0.02208	T	.	.	0.110	0.23814	B	.;.	.;.	3.301007	0.45312	22.1	0.94970544969204396	0.25898	0.89503	0.50009	D	AEFDBCI	0.574249	0.57711	D	-0.242221064606552	0.31414	1.761273	-0.0473523804659313	0.37604	2.204087	0.999999703206234	0.74766	0.631981	0.41245	0	0.588066	0.40923	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	5.06	3.9	0.44240	3.563000	0.53529	10.740000	0.83657	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9257:0.0:0.0743:0.0	10.825	0.45833	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	5325.33	420	chr6	125759470	.	A	G	5325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.543;DP=1087;ExcessHet=0;FS=4.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.1;SOR=0.675	GT:AD:DP:GQ:PL	0/1:198,222:420:99:5339,0,5147	18	0	1	0
chr6	132461845	132461845	T	C	exonic	STX7	.	nonsynonymous SNV	STX7:NM_001326580:exon10:c.A709G:p.M237V	.	465	1055	2	0	0	2	0.00094697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00406283414238	.	.	0.0004	0	0	0	0	0.0004	0	0.0005	3.88e-05	6	154602	rs779199584	8.487e-05	8.414e-05	7.513e-05	9.491e-05	0.0050	7.221e-05	6.751e-05	0.0035	0.0030	6.358e-05	8.494e-05	0.0007	0	0	0.0050	3.165e-05	0.0002	0.0003	6.564e-05	6.561e-05	7.708e-05	5.369e-05	0.0002	3.513e-05	2.614e-05	1.972e-05	1.124e-05	0	0	0	0.0006	0	0	0.0102	5.879e-05	0	0.0002	0.051	0.39334	T	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	.	.	.	1.57	0.29342	T	0.84	0.01761	N	0.174	0.18649	-0.9915	0.32218	T	0.013	0.04890	T	6	0.045912325	0.03719	T	0.004063	0.09681	T	0.032	0.07718	0.341	0.33302	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.572118	0.00215	T	-0.755037	0.03293	T	0.0204851030999364	0.00748	T	0.277772	0.04791	T	.	.	.	.	.	.	.	.	-2.544	0.06089	T	.	.	0.079	0.07083	B	.	.	0.877826	0.12511	9.040	0.34617805201853169	0.02127	0.55990	0.30003	D	AEFBI	0.055836	0.10272	N	-0.972287001596444	0.09199	0.4343823	-1.10141024778881	0.07674	0.3741794	0.992168796931262	0.32742	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.83	-7.47	0.01221	-0.606000	0.05750	-2.831000	0.03316	-0.802000	0.03151	0.934000	0.32416	0.000000	0.08366	0.069000	0.16583	0.1238:0.2392:0.3804:0.2566	2.065	0.03383	820	0.40914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1830.83	66	chr6	132461845	.	T	C	1830.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.195;DP=759;ExcessHet=0.119;FS=1.247;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=2.51;SOR=0.7	GT:AD:DP:GQ:PL	0/1:27,39:66:99:855,0,653	17	0	2	0
chr6	143898606	143898606	G	A	exonic	ZC2HC1B	.	nonsynonymous SNV	ZC2HC1B:NM_001013623:exon5:c.G404A:p.R135Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	2359469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0371294471446	.	0.000199681	0.0002	0.0005	0	0	0	0.0002	0	0.0001	5.82e-05	9	154602	rs200112987	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	9.494e-05	0.0003	3.971e-05	2.798e-05	0	0.0021	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.234e-05	0.0001	9.898e-05	7.22e-05	0	0.0002	0	0	0	0	0.0002	0.0014	0.0002	0.038	0.42783	D	0.025	0.56192	D	0.843	0.46605	P	0.11	0.31460	B	0.051097	0.23013	N	0.293222	0.998896	0.21818	N	3.08	0.87267	M	0.13	0.60973	T	-3.87	0.72594	D	0.235	0.26475	-0.9398	0.42648	T	0.124	0.42799	T	10	0.07368907	0.11168	T	0.037129	0.57424	D	0.152	0.39956	.	.	0.101711395817	0.09552	0.4468483238709342	0.44602	.	.	0.339459717274	0.16358	T	0.378091	0.74113	T	-0.265961	0.12211	T	-0.335097	0.40900	T	0.227638185024261	0.21839	T	0.929607	0.73996	D	0.18748301	0.40204	0.20988607	0.45352	0.18748301	0.40203	0.20988607	0.45351	-12.826	0.88633	D	.	.	0.107	0.19998	B	.	.	3.541760	0.49744	22.8	0.99738465383548669	0.83337	0.50213	0.28611	D	AEFDBI	0.129592	0.24783	N	-0.135707941423062	0.35845	2.064132	-0.199481894827304	0.31556	1.786959	0.0018897549219239	0.08975	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.19	3.41	0.38145	3.139000	0.50273	5.181000	0.47864	0.671000	0.69459	0.899000	0.31403	0.998000	0.33993	0.671000	0.33280	0.1557:0.0:0.8443:0.0	11.001	0.46817	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002500	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	99	chr6	143898606	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=721;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.563;SOR=0.929	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1143,0,1118	18	0	1	0
chr6	152294013	152294013	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon93:c.G17584A:p.A5862T,SYNE1:NM_182961:exon94:c.G17797A:p.A5933T	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	3	1500	19	0	0	19	0.00629347	.	.	.	196385	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00736538391642	0.0007	0.000199681	0.0010	0	0.0012	0.0001	0	0.0014	0.0033	0.0005	0.0008926	138	154602	rs113962905	0.0008	0.0008	0.0008	0.0009	0.0108	0.0008	0.0008	0.0086	0.0079	0.0005	0.0013	0.0142	0	0.0001	0.0108	0.0005	0.0023	0.0005	0.0008	0.0008	0.0009	0.0007	0.0006	0.0007	0.0006	0.0004	0.0004	0.0002	0	0.0005	0.0147	0	9.427e-05	0.0136	0.0006	0.0024	0.0006	0.198	0.26192	T	0.153	0.34477	T	0.01	0.15535	B	0.005	0.11217	B	0.006843	0.31758	N	0.139342	0.793572	0.36737	D	0.425	0.12573	N	1.37	0.34253	T	-1.22	0.49352	N	0.124	0.11626	-1.0686	0.09723	T	0.026	0.11220	T	10	0.00496006	0.00106	T	0.007365	0.19523	T	0.018	0.03083	.	.	0.203808441222	0.19973	0.20704882517514758	0.20620	0.130525475997	0.14724	0.350232809782	0.17955	T	0.115213	0.43362	T	-0.49695	0.00595	T	-0.537052	0.18587	T	0.00708253380708282	0.00081	T	0.861914	0.55630	D	0.05951309	0.12104	0.086158104	0.19942	0.060044482	0.12275	0.080463	0.18204	-3.404	0.15110	T	.	.	0.069	0.08081	B	.;.;.;.;.	.;.;.;.;.	2.451546	0.31569	18.78	0.98255732140809338	0.39621	0.88468	0.48410	D	AEFBI	0.117508	0.23016	N	-0.458049244798964	0.23467	1.260463	-0.343890791056661	0.26699	1.476403	0.994501905923458	0.33667	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.49	2.58	0.30011	1.111000	0.30773	1.957000	0.29917	0.599000	0.40250	0.937000	0.32526	0.961000	0.29326	0.957000	0.51019	0.0:0.748:0.0:0.252	9.518	0.38285	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.040404	0.004076	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	1020.33	118	chr6	152294013	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=810;ExcessHet=0;FS=4.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-2.227;SOR=1.071	GT:AD:DP:GQ:PL	0/1:74,44:118:99:1034,0,1743	18	0	1	0
chr6	157323462	157323462	G	C	exonic	TMEM242	.	nonsynonymous SNV	TMEM242:NM_018452:exon1:c.C38G:p.S13C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00848354331856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.021	0.62352	D	0.928	0.51611	P	0.65	0.52463	P	0.490220	0.05032	N	1.367670	1	0.08975	N	2.56	0.74772	M	.	.	.	-1.71	0.40660	N	0.223	0.26957	-0.9793	0.35162	T	0.101	0.37518	T	9	0.16068646	0.30160	T	0.008484	0.22432	T	0.111	0.31313	0.493	0.58048	0.0297737177859	0.01360	0.5363064923294099	0.53555	0.4237887408	0.42824	0.504370808601	0.39437	T	0.026128	0.20499	T	-0.0934974	0.37499	T	-0.372079	0.36647	T	0.770734369754791	0.44484	D	0.615438	0.23533	T	0.22208804	0.44800	0.18158874	0.41032	0.22208804	0.44800	0.18158874	0.41032	-7.507	0.57660	D	.	.	0.108	0.22024	B	.;.	.;.	2.833751	0.37365	20.5	0.98612824044291836	0.43664	0.02339	0.06686	N	ALL	0.091819	0.18594	N	-0.280581851620264	0.29899	1.662171	-0.4990895715151	0.22179	1.203395	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.37	3.37	0.37692	2.320000	0.43456	8.830000	0.78289	0.676000	0.76740	0.015000	0.19116	1.000000	0.68203	0.019000	0.11356	0.0:0.0:1.0:0.0	10.549	0.44265	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2847.33	247	chr6	157323462	.	G	C	2847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=882;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.559;SOR=0.892	GT:AD:DP:GQ:PL	0/1:125,122:247:99:2861,0,2713	18	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:89:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1154,89,0:167976249	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:89:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1154,89,0:167976249	11	2	5	1
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,36:153:99:0|1:170561949_GCAA_G:1025,0,4784:170561949	0	12	7	0
chr6	170561958	170561958	-	CAGCAGCAGCAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAGCAGCAG:p.Q75_A76insQQQQ,TBP:NM_003194:exon3:c.222_223insCAGCAGCAGCAG:p.Q95_A96insQQQQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775224229	0.0006	0.0006	0.0005	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	0.0005	0.0006	0.0003	0.0017	6.455e-05	0.0012	0.0004	0.0006	0.0030	0.0006	0.0006	0.0006	0.0005	0.0024	0.0005	0.0004	0.0013	0.0010	0.0005	0	0.0004	0.0009	0.0014	0	0	0.0005	0.0015	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5277.38	89	chr6	170561958	.	A	ACAGCAGCAGCAG	5277.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=3180;ExcessHet=0.7564;FS=0.379;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=14.22;ReadPosRankSum=2.19;SOR=0.734	GT:AD:DP:GQ:PL	0/1:36,43:89:99:2436,0,2677	18	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,36:127:99:0|1:170561949_GCAA_G:2458,0,5294:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,32:128:99:.:.:2250,0,5244:.	6	5	8	0
chr7	5193158	5193158	C	T	exonic	WIPI2	.	nonsynonymous SNV	WIPI2:NM_001033518:exon2:c.C115T:p.R39C,WIPI2:NM_015610:exon2:c.C115T:p.R39C	.	770	743	9	0	0	9	0.00602007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	7.7e-05	0.00119808	0.0022	0.0002	0.0006	0.0001	0	0.0011	0	0.0110	0.0017982	278	154602	rs200241348	0.0014	0.0014	0.0011	0.0016	0.0100	0.0013	0.0013	0.0094	0.0092	5.976e-05	0.0004	0.0001	0	1.872e-05	0.0100	0.0009	0.0013	0.0100	0.0007	0.0007	0.0005	0.0009	0.0102	0.0006	0.0006	0.0079	0.0071	0.0001	0	0.0005	0.0003	0	0.0002	0.0034	0.0006	0.0014	0.0102	0.027	0.46513	D	0.015	0.61642	D	0.0	0.02946	B	0.0	0.01387	B	0.112249	0.02650	U	2.364210	1	0.08975	N	0.345	0.11182	N	1.25	0.36691	T	0.25	0.04456	N	0.297	0.34012	-1.0166	0.24819	T	0.062	0.25851	T	10	0.0045412183	0.00094	T	.	.	.	0.107	0.30369	.	.	0.319402600006	0.31557	0.24390158689964797	0.24304	1.27448055317	0.82373	0.475763320923	0.35474	T	0.061041	0.31548	T	-0.505842	0.00530	T	-0.492277	0.23152	T	0.023434168358597	0.01075	T	0.656534	0.26618	T	0.056001283	0.10958	0.035365514	0.02775	0.056001283	0.10958	0.035365514	0.02775	-4.742	0.34216	T	0.1116444588481723	0.09570	0.317	0.54279	B	.;.	.;.	1.866987	0.23715	16.12	0.96035980764590634	0.28518	0.07283	0.13306	N	AEFDGBI	0.073046	0.14598	N	-0.838946224666841	0.12323	0.5999756	-0.861578209832109	0.13009	0.6725014	0.999958265433089	0.48110	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.32	2.44	0.28875	2.188000	0.42243	0.430000	0.18314	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.009000	0.08673	0.0:0.868:0.0:0.132	6.549	0.21620	940	0.13648	.;.	.	.	.	.	.	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	0.007049	0.000000	0.004076	0.014620	0.000000	0.008621	0.006098	0.003788	0.02632	1787.33	135	chr7	5193158	.	C	T	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.66;MQRankSum=2.36;QD=13.24;ReadPosRankSum=-1.237;SOR=0.712	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1801,0,1340	18	0	1	0
chr7	12393716	12393716	C	A	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon2:c.G121T:p.D41Y,VWDE:NM_001346972:exon2:c.G121T:p.D41Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0376064459589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.003519	0.34847	N	0.333664	0.764243	0.29506	N	2.44	0.70756	M	-0.16	0.65378	T	-4.53	0.78388	D	0.649	0.66016	-0.3880	0.72404	T	0.367	0.72750	T	10	0.72620744	0.73990	D	0.037606	0.57720	D	0.262	0.57482	0.438	0.49157	0.48447252604	0.48079	0.7207080388386138	0.72013	.	.	0.415243417025	0.27181	T	0.122628	0.44643	T	0.141691	0.68485	D	-0.0342469	0.68087	D	0.983933985233307	0.75420	D	0.910909	0.68443	D	0.4435443	0.63630	0.43055606	0.66702	0.4435443	0.63631	0.43055606	0.66702	-7.595	0.58276	D	.	.	0.241	0.47481	B	.	.	4.003399	0.59012	24.0	0.99463893830158356	0.65944	0.83040	0.42192	D	AEFBHCI	0.606660	0.59692	D	0.462300213581593	0.64904	4.755813	0.380446664216349	0.60360	4.222685	0.99999822897804	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.87	3.96	0.45097	1.595000	0.36318	2.095000	0.30570	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9236:0.0:0.0764	13.556	0.61221	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	55.72	55	chr7	12393716	.	C	A	55.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.851;DP=870;ExcessHet=0;FS=44.077;InbreedingCoeff=-0.0414;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.05;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,10:55:69:0|1:12393711_T_G:69,0,1367:12393711	17	0	1	1
chr7	21903033	21903033	G	A	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141T:p.L381F,CDCA7L:NM_018719:exon9:c.C1279T:p.L427F,CDCA7L:NM_001127370:exon10:c.C1177T:p.L393F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0699454345617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299767891	6.842e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	0.34	0.58613	T	-3.74	0.71042	D	0.86	0.86941	0.027	0.82799	D	0.441	0.77928	T	10	0.9467933	0.94006	D	0.069945	0.70868	D	0.545	0.81077	0.858	0.95662	0.780657852685	0.77863	0.7880493888786723	0.78756	1.91311269366	0.92925	0.735585093498	0.72323	T	0.626378	0.88361	D	0.091594	0.63367	D	-0.106208	0.62911	T	0.998971581459045	0.95761	D	0.952605	0.92599	D	0.79861253	0.83817	0.76817507	0.86309	0.79861253	0.83818	0.76817507	0.86310	-9.477	0.70716	D	.	.	0.941	0.88401	P	.;.;.	.;.;.	5.421571	0.90701	31	0.99890813410612078	0.96513	0.98623	0.84820	D	AEFBI	0.700675	0.65762	D	0.795052017268525	0.85796	8.684041	0.724310667477347	0.84223	8.232992	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	322.46	145	chr7	21903033	.	G	A	322.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.82;DP=1144;ExcessHet=0.119;FS=211.169;InbreedingCoeff=-0.069;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.93;SOR=7.978	GT:AD:DP:GQ:PL	0/1:109,36:145:99:251,0,3383	18	0	1	0
chr7	21903034	21903034	G	C	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1140G:p.I380M,CDCA7L:NM_018719:exon9:c.C1278G:p.I426M,CDCA7L:NM_001127370:exon10:c.C1176G:p.I392M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00744940412243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.17761	T	0.246	0.24264	T	0.549	0.38101	P	0.161	0.34794	B	0.000013	0.62929	D	0.145320	0.519053	0.31584	N	1.755	0.45626	L	0.77	0.50192	T	-1.52	0.36980	N	0.376	0.43514	-0.9515	0.40712	T	0.093	0.35336	T	10	0.36910453	0.53334	T	0.007449	0.19765	T	0.067	0.19503	0.713	0.84872	0.530852358449	0.52733	0.5385208609000753	0.53777	1.02496037696	0.75236	0.567820072174	0.48370	T	0.099752	0.40487	T	-0.1685	0.25463	T	-0.479815	0.24466	T	0.239356532692909	0.22390	T	0.739226	0.35772	T	0.13321584	0.30993	0.122075036	0.29450	0.13321584	0.30993	0.122075036	0.29449	-7.701	0.59126	D	.	.	0.178	0.38853	B	.;.;.	.;.;.	2.337519	0.29950	18.29	0.77285325382982761	0.11812	0.91246	0.53147	D	AEFBI	0.429229	0.49243	N	-0.244863286640542	0.31308	1.754263	-0.155350697975854	0.33203	1.89687	0.99681151548696	0.35031	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.22	2.21	0.27042	2.281000	0.43113	4.961000	0.46342	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1902:0.3273:0.4826:0.0	6.441	0.21053	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09091	39.57	145	chr7	21903034	.	G	C	39.57	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.907;DP=1379;ExcessHet=0.119;FS=168.119;InbreedingCoeff=-0.2036;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=1.42;SOR=9.19	GT:AD:DP:GQ:PL	0/1:109,17:145:46:46,0,3521	9	0	2	8
chr7	24800272	24800272	C	T	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145322:exon20:c.G2374A:p.D792N,OSBPL3:NM_145320:exon21:c.G2482A:p.D828N,OSBPL3:NM_145321:exon21:c.G2467A:p.D823N,OSBPL3:NM_015550:exon23:c.G2575A:p.D859N	.	434	1086	2	0	0	2	0.000919963	.	.	.	2199740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.00483296836751	0.0017	0.000199681	0.0015	0.0008	0.0013	0	0.0002	0.0023	0.0011	0	0.0014683	227	154602	rs139154799	0.0026	0.0026	0.0026	0.0025	0.0032	0.0025	0.0025	0.0031	0.0030	0.0005	0.0008	0	2.524e-05	0.0003	0.0005	0.0032	0.0027	0.0002	0.0016	0.0016	0.0018	0.0013	0.0029	0.0014	0.0014	0.0026	0.0024	0.0006	0	0.0008	0	0	0	0	0.0029	0.0019	0.0004	0.505	0.07895	T	0.495	0.11551	T	0.0	0.09854	B	0.001	0.10090	B	0.001336	0.00770	N	2.895850	1	0.08975	N	0	0.06538	N	1.57	0.29342	T	0.34	0.04613	N	0.123	0.20129	-1.0217	0.23162	T	0.046	0.19839	T	10	0.004227251	0.00084	T	0.004833	0.12098	T	0.089	0.25827	.	.	0.148003135375	0.14442	0.20764192985844782	0.20680	0.209537009466	0.23427	0.240830004215	0.02865	T	0.021369	0.16653	T	-0.670999	0.00054	T	-0.740298	0.03878	T	0.00253732858274185	0.00026	T	0.180682	0.12692	T	0.0354117	0.04162	0.033664394	0.02300	0.0354117	0.04162	0.033664394	0.02300	-2.842	0.09621	T	.	.	0.059	0.01309	B	.;.;.;.	.;.;.;.	-0.534657	0.01760	0.133	0.68708711832100777	0.08742	0.01195	0.04267	N	AEFBI	0.055205	0.10103	N	-1.79187971143166	0.00565	0.0243467	-1.89256791895863	0.00506	0.02243871	0.998561163611557	0.37206	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.633917	0.49826	0	.	.	5.31	-10.6	0.00212	0.269000	0.18354	-0.931000	0.06883	-2.911000	0.00159	0.026000	0.20160	0.000000	0.08366	0.002000	0.04165	0.0:0.6673:0.0:0.3327	19.763	0.96324	740	0.53092	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.000000	0.001359	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	649.33	50	chr7	24800272	.	C	T	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.573;SOR=0.555	GT:AD:DP:GQ:PL	0/1:25,25:50:99:663,0,514	18	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	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	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.02632	2624.33	137	chr7	36618320	.	G	A	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.322;DP=761;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-0.055;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,69:137:99:0|1:36618320_G_A:2638,0,2505:36618320	18	0	1	0
chr7	44976914	44976914	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon2:c.G253A:p.A85T	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.0239828994509	7.7e-05	.	0.0001	0	8.676e-05	0.0001	0	1.521e-05	0.0045	0.0006	0.00011	17	154602	rs377581554	3.969e-05	3.967e-05	2.451e-05	5.503e-05	0.0004	3.114e-05	2.848e-05	0.0003	0.0002	2.987e-05	4.472e-05	0	0	0	0	1.529e-05	0.0001	0.0004	1.314e-05	1.313e-05	0	2.689e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	0	0.0005	0	0.149	0.24758	T	0.097	0.39190	T	0.999	0.77913	D	0.924	0.65913	D	0.042197	0.23868	N	0.206931	0.998286	0.44722	D	2.195	0.61839	M	-1.78	0.83737	D	-2.9	0.60827	D	0.477	0.51226	0.070	0.83624	D	0.589	0.85263	D	10	0.29100686	0.46680	T	0.023983	0.46960	T	0.585	0.83360	.	.	0.59734385502	0.59414	0.7897891662886288	0.78930	0.734115872329	0.62878	0.445233404636	0.31293	T	0.600354	0.87182	D	-0.179758	0.23772	T	-0.153255	0.58954	T	0.309217691421509	0.25382	T	0.763424	0.39759	T	0.17873882	0.38909	0.32903683	0.58786	0.17873882	0.38909	0.32903683	0.58786	-8.203	0.62445	D	.	.	0.186	0.40164	B	.;.	.;.	4.592066	0.72647	25.9	0.99423745905674632	0.63887	0.87526	0.47094	D	AEFBCI	0.449803	0.50447	N	-0.0609352077187968	0.39115	2.301575	-0.152574790755301	0.33309	1.904036	0.999999970752087	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.93	3.03	0.34070	4.017000	0.56879	4.802000	0.44976	-0.172000	0.11096	0.999000	0.42656	1.000000	0.68203	0.286000	0.24163	0.0:0.9125:0.0:0.0875	13.658	0.61821	774	0.48577	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1439.33	122	chr7	44976914	.	C	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.694;DP=750;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.118;SOR=0.573	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1453,0,1536	18	0	1	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	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	1	0	0	0	0	1	0	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.02632	835.33	76	chr7	47853147	.	A	G	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=692;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.268;SOR=0.511	GT:AD:DP:GQ:PL	0/1:38,38:76:99:849,0,862	18	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:182,62:244:99:273,0,3205	9	0	8	2
chr7	57469494	57469494	G	A	exonic	ZNF716	.	nonsynonymous SNV	ZNF716:NM_001159279:exon4:c.G1033A:p.V345I	.	419	1096	7	0	0	7	0.00318327	.	.	.	2364921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.000390372232326	0.0004	.	0.0006	0.0001	0.0008	0	0	0.0008	0	0.0004	0.0005045	78	154602	rs201449041	0.0004	0.0004	0.0004	0.0004	0.0035	0.0004	0.0004	0.0023	0.0019	0.0002	0.0009	0.0033	0	1.874e-05	0.0035	0.0004	0.0009	0.0002	0.0005	0.0012	0.0007	0.0004	0.0007	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0007	0.0062	0	0.0001	0	0.0004	0.0031	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.115	0.28702	L	3.07	0.08547	T	0.65	0.02332	N	0.025	0.00485	-0.9442	0.41944	T	0.008	0.02801	T	9	0.00836131	0.00190	T	3.9E-4	0.00065	T	0.025	0.05312	.	.	0.0401082797425	0.02173	0.006849437121360243	0.00651	0.0092463439996	0.00840	0.446093469858	0.31411	T	8.05E-4	0.00390	T	-0.677689	0.00049	T	-0.819034	0.01472	T	0.00192285653013493	0.00020	T	0.0879912	0.00649	T	0.014780247	0.00108	0.057527654	0.10473	0.014780247	0.00107	0.057527654	0.10472	0.582	0.00197	T	.	.	0.070	0.03301	B	.	.	-0.840207	0.01031	0.043	0.088534577056436983	0.00078	0.00001	0.00044	N	AEFBHCI	0.007580	0.00028	N	-2.28953624324688	0.00048	0.002062267	-2.33524870797769	0.00055	0.002429012	3.10240884095701E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.134000	0.10415	.	.	-2.301000	0.00322	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7106:0.0:0.2894:0.0	5.362	0.15394	964	0.07719	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	0.007945	0.010101	0.012262	0.008197	0.000000	0.000000	0.006098	0.000000	0.02632	1458.33	112	chr7	57469494	.	G	A	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=1741;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.885;SOR=0.573	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1472,0,1452	18	0	1	0
chr7	71421023	71421023	G	C	exonic	GALNT17	.	nonsynonymous SNV	GALNT17:NM_022479:exon5:c.G880C:p.G294R	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.188496176333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.27	0.59176	T	-6.82	0.92980	D	0.989	0.99670	0.365	0.88565	D	0.541	0.83061	D	10	0.93310344	0.92645	D	0.188496	0.86005	D	0.815	0.94046	0.76	0.88892	0.930323492244	0.92961	0.9627230353298919	0.96259	1.75436928323	0.91029	0.89225435257	0.95538	D	0.274811	0.64732	T	0.374598	0.88359	D	0.300308	0.88211	D	0.998434960842133	0.94140	D	0.983602	0.94423	D	0.83623946	0.86340	0.85349554	0.91739	0.83623946	0.86342	0.85349554	0.91739	-11.064	0.80008	D	.	.	0.997	0.96796	P	.;.	.;.	5.920096	0.94063	33	0.99940903831423489	0.99797	0.98832	0.87442	D	AEFBI	0.934155	0.92712	D	1.04058879586914	0.96863	15.24742	0.954445360698334	0.97536	16.29733	0.999999960652941	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.564000	0.93246	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.002	0.89122	940	0.13648	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	168	chr7	71421023	.	G	C	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.772;DP=885;ExcessHet=0;FS=1.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.784;SOR=0.532	GT:AD:DP:GQ:PL	0/1:95,73:168:99:1466,0,2328	18	0	1	0
chr7	75399301	75399301	C	T	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon2:c.C368T:p.T123M,TRIM74:NM_198853:exon2:c.C368T:p.T123M,TRIM73:NM_198924:exon2:c.C368T:p.T123M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0150913758785	.	.	0.0014	0	0	0	0	0.0017	0	0	.	.	.	rs782004984	0.0003	0.0003	0.0003	0.0003	0.0036	0.0003	0.0002	0.0029	0.0026	0.0036	0.0002	0	0	3.317e-05	0	0.0002	0.0003	0.0006	0.0008	0.0009	0.0008	0.0008	0.0031	0.0006	0.0005	0.0022	0.0019	0.0031	0	0.0003	0	0	0	0	0.0001	0	0.0008	0.182	0.46910	T	0.01	0.74150	D	0.989	0.62824	D	0.828	0.59497	P	0.000008	0.62929	D	0.000000	1	0.81001	D	0.49	0.13296	N	0.92	0.44461	T	-0.24	0.14978	N	0.174	0.19325	-0.7824	0.56167	T	0.154	0.48464	T	10	0.045758814	0.03684	T	0.015091	0.35618	T	0.135	0.36572	.	.	0.289847578895	0.28608	0.050267181479346765	0.04969	.	.	0.76369792223	0.76481	T	0.003975	0.03383	T	-0.461796	0.00958	T	-0.437587	0.29080	T	0.0427572814612288	0.04192	T	0.816718	0.47282	T	0.04598542	0.07621	0.080437444	0.18195	0.04598542	0.07620	0.080437444	0.18195	-6.48	0.50132	T	.	.	0.121	0.25232	B	.;.;.;.	.;.;.;.	4.682002	0.74937	26.2	0.99735602508875543	0.83119	0.73645	0.36023	D	AEFGBI	0.293206	0.40388	N	0.0538500408161039	0.44319	2.708197	-0.091101559737201	0.35756	2.072517	0.405231269141725	0.20165	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.31	2.31	0.27816	1.102000	0.30662	4.492000	0.43575	0.440000	0.21072	0.585000	0.27626	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	12.185	0.53542	940	0.13648	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	33.74	4	chr7	75399301	.	C	T	33.74	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=124;ExcessHet=0;FS=0;InbreedingCoeff=-0.052;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:47:47,0,50	18	0	1	0
chr7	87173562	87173562	A	G	exonic	DMTF1	.	nonsynonymous SNV	DMTF1:NM_001142326:exon5:c.A91G:p.I31V,DMTF1:NM_001142327:exon6:c.A355G:p.I119V,DMTF1:NM_021145:exon8:c.A355G:p.I119V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00792590766219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	8.209e-06	8.189e-06	5.514e-06	8.108e-06	3.47e-06	2.53e-06	3.82e-06	2.76e-06	0	0	0	0	0	0	8.108e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	0.18122	T	0.837	0.03642	T	0.0	0.02946	B	0.0	0.01387	B	0.000504	0.43753	D	0.285031	0.855804	0.81001	D	1.445	0.36358	L	0.96	0.43279	T	0.09	0.10656	N	0.19	0.20793	-1.0769	0.07962	T	0.070	0.28511	T	10	0.09751955	0.17569	T	0.007926	0.21033	T	0.067	0.19503	0.325	0.30711	0.278932316844	0.27492	0.17263982991340251	0.17183	0.244311134851	0.26933	0.478528439999	0.35855	T	0.028666	0.20712	T	-0.237142	0.15715	T	-0.578415	0.14686	T	0.374266852655916	0.27962	T	0.645735	0.25721	T	0.03974199	0.05543	0.04327997	0.05349	0.03974199	0.05543	0.04327997	0.05349	-2.394	0.06949	T	0.1358078947642167	0.14796	0.087	0.16363	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.691893	0.21554	15.25	0.94731220054877474	0.25412	0.91844	0.54385	D	AEDBIJ	0.184755	0.31208	N	-0.196126603549012	0.33295	1.887344	0.0270933743071037	0.40977	2.454234	0.995858693198135	0.34367	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	4.7	0.58776	2.724000	0.46956	3.035000	0.36058	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9223:0.0:0.0777:0.0	11.998	0.52506	482	0.77288	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	76	chr7	87173562	.	A	G	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=691;ExcessHet=0;FS=4.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.921;SOR=1.341	GT:AD:DP:GQ:PL	0/1:44,32:76:99:793,0,967	18	0	1	0
chr7	92468857	92468857	G	A	exonic	ERVW-1	.	stopgain	ERVW-1:NM_014590:exon1:c.C1525T:p.R509X,ERVW-1:NM_001130925:exon2:c.C1525T:p.R509X	.	547	954	20	1	0	22	0.011399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00419329	0.0023	0	0.0002	0	0	0.0004	0.0011	0.0149	0.0019922	308	154602	rs151180490	0.0019	0.0018	0.0010	0.0026	0.0138	0.0018	0.0017	0.0131	0.0128	0.0002	0.0004	0	0	0	0.0028	0.0003	0.0009	0.0138	0.0006	0.0006	0.0004	0.0008	0.0124	0.0005	0.0004	0.0099	0.0090	4.813e-05	0	0.0002	0	0	9.425e-05	0	0.0003	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	1.000000	0.07966	U	0.401907	0.982513	0.39901	D	.	.	.	.	.	.	.	.	.	0.047	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329443	0.85126	D	0.235446	0.84931	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.493266	0.91505	32	0.95310512125171376	0.26643	0.00403	0.02011	N	AEFI	0.057299	0.10661	N	-0.190765025704405	0.33518	1.902482	-0.611221551837486	0.19205	1.029351	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	-0.495000	0.08836	0.171000	0.17763	0.124000	0.23245	0.019000	0.20708	0.138000	0.19872	.	.	.	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	361.33	36	chr7	92468857	.	G	A	361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=526;ExcessHet=0;FS=3.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.13;SOR=1.329	GT:AD:DP:GQ:PL	0/1:22,14:36:99:375,0,506	18	0	1	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,36:237:96:.:.:96,0,7575:.	5	0	14	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	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	0	0	1	0	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.05263	2152.83	87	chr7	95311568	.	A	C	2152.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.94;DP=756;ExcessHet=0.119;FS=2.909;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=2.41;SOR=0.931	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1197,0,1166	17	0	2	0
chr7	100106492	100106492	C	T	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon14:c.C1136T:p.S379F,AP4M1:NM_004722:exon14:c.C1115T:p.S372F	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0173944578285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.973	0.72923	D	0.000010	0.62929	D	0.113360	0.999946	0.51968	D	2.315	0.66250	M	2.02	0.21119	T	-3.36	0.69477	D	0.566	0.58968	-0.9731	0.36540	T	0.126	0.43112	T	10	0.4808403	0.60421	T	0.017394	0.39069	T	0.192	0.47115	0.37	0.38013	0.593771126905	0.59055	0.535071671211154	0.53432	0.520053127806	0.49812	0.626525640488	0.56652	T	0.274411	0.64690	T	-0.0882671	0.38363	T	-0.364566	0.37522	T	0.961416721343994	0.66076	D	0.913109	0.69007	D	0.89983505	0.91368	0.7460952	0.84992	0.89983505	0.91369	0.7460952	0.84993	-8.958	0.67426	D	0.6535910691966417	0.72609	0.369	0.62266	A	.;.;.;.;.;.	.;.;.;.;.;.	5.083409	0.84853	28.4	0.99829413319813753	0.91112	0.95537	0.65116	D	AEFDBI	0.806878	0.73107	D	0.717457988520797	0.80776	7.369951	0.68853556255678	0.81508	7.543082	0.999999999999257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	5.483000	0.66561	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.414	0.74672	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.33	157	chr7	100106492	.	C	T	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.854;DP=1058;ExcessHet=0;FS=213.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.941;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,25:157:99:.:.:115,0,4134:.	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,40:121:99:0|1:100175805_G_C:755,0,2652:100175805	1	0	18	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,110:110:99:1|1:100773849_CCAT_C:4950,331,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,137:137:99:6135,418,0	2	9	8	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:514,188:771:99:0|1:100953098_G_C:6347,0,21017:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:514,177:756:99:.:.:5885,0,21050:.	2	0	17	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	491.09	467	chr7	100955170	.	G	*	491.09	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.24;DP=6383;ExcessHet=2.9153;FS=17.057;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.111;MQ=58.69;MQRankSum=-16.33;QD=0.19;ReadPosRankSum=-1.061;SOR=2.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,40:467:99:0|1:100955170_G_T:400,0,17725:100955170	14	0	4	1
chr7	100955172	100955175	CACG	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	241.19	477	chr7	100955172	.	CACG	*	241.19	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.12;DP=6413;ExcessHet=2.0135;FS=24.257;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.118;MQ=58.75;MQRankSum=-15.03;QD=0.1;ReadPosRankSum=-1.203;SOR=3.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:437,38:477:99:0|1:100955170_G_T:280,0,18235:100955170	13	0	4	2
chr7	100955174	100955177	CGAT	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1686.78	477	chr7	100955174	.	CGAT	*	1686.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.17;DP=6403;ExcessHet=2.0135;FS=13.466;InbreedingCoeff=-0.1878;MLEAC=5;MLEAF=0.132;MQ=57.98;MQRankSum=-8.168;QD=0.73;ReadPosRankSum=-2.426;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:437,38:477:99:0|1:100955170_G_T:280,0,18235:100955170	14	0	5	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:499,196:854:99:0|1:100960582_T_*:8823,0,19804:100960582	14	0	5	0
chr7	107324511	107324511	G	A	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon4:c.C323T:p.P108L,COG5:NM_001161520:exon11:c.C1037T:p.P346L,COG5:NM_001379511:exon11:c.C1037T:p.P346L,COG5:NM_001379512:exon11:c.C1037T:p.P346L,COG5:NM_001379513:exon11:c.C1037T:p.P346L,COG5:NM_001379514:exon11:c.C1037T:p.P346L,COG5:NM_006348:exon11:c.C1037T:p.P346L,COG5:NM_181733:exon11:c.C1037T:p.P346L	Congenital disorder of glycosylation, type IIi	124	1394	4	0	0	4	0.00143266	.	.	.	270301	COG5-related_disorder|Inborn_genetic_diseases|not_provided|COG5-congenital_disorder_of_glycosylation	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0254403389719	0.0008	0.000199681	0.0009	0.0009	0.0014	0.0001	0	0.0011	0.0022	0.0001	0.0008085	125	154602	rs143773937	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0004	0.0007	0.0113	7.62e-05	0	0.0017	0.0003	0.0014	0.0002	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0005	0.0101	0.0002	0	0	0.0004	0.0005	0	0.029	0.47320	D	0.061	0.45744	T	0.103	0.29693	B	0.017	0.25551	B	0.015353	0.28271	N	0.422656	0.999979	0.53665	D	2.2	0.62015	M	0.44	0.56609	T	-3.68	0.70314	D	0.203	0.27910	-0.8445	0.52345	T	0.168	0.50697	T	10	0.005508989	0.00122	T	0.02544	0.48409	D	0.087	0.25287	.	.	0.56874858234	0.56539	0.28237833917633737	0.28150	0.0638151823165	0.07108	0.288906216621	0.08763	T	0.111347	0.42676	T	-0.363668	0.03927	T	-0.365319	0.37437	T	0.0427339328725148	0.04188	T	0.906609	0.67067	D	0.22645898	0.45327	0.15863706	0.37035	0.22645898	0.45327	0.15863706	0.37035	-6.457	0.49953	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	3.244757	0.44309	21.9	0.978183391629321	0.36174	0.89939	0.50738	D	AEFBI	0.424515	0.48966	N	0.133827866328755	0.48045	3.022048	0.257369859696174	0.53071	3.477843	0.999999788860004	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.241000	0.65206	7.513000	0.59647	0.669000	0.69127	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	16.949	0.86110	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003040	0.000000	0.005450	0.000000	0.000000	0.000000	0.006173	0.000000	0.02632	252.33	22	chr7	107324511	.	G	A	252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=573;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.355;SOR=0.412	GT:AD:DP:GQ:PL	0/1:10,12:22:99:266,0,211	18	0	1	0
chr7	108091774	108091774	C	A	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon14:c.G1553T:p.C518F,LAMB4:NM_001318047:exon14:c.G1553T:p.C518F,LAMB4:NM_001318048:exon14:c.G1553T:p.C518F,LAMB4:NM_007356:exon14:c.G1553T:p.C518F	.	430	1091	1	0	0	1	0.000458085	.	.	.	3287323	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.908	0.186263424204	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs116967479	8.216e-05	8.209e-05	8.311e-05	8.12e-05	0.0003	7.008e-05	6.558e-05	0.0002	0.0001	0	0.0003	0.0019	0	0	0	3.148e-05	0.0002	0.0001	5.91e-05	5.906e-05	5.14e-05	6.714e-05	0.0002	3.075e-05	2.209e-05	2.847e-05	1.858e-05	0	0	0	0.0009	0	0	0	7.351e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000081	0.51296	D	0.000000	1	0.81001	D	4.415	0.98701	H	-3.4	0.94260	D	-10.53	0.99207	D	0.725	0.76760	1.096	0.99473	D	0.931	0.97730	D	10	0.8142727	0.80682	D	0.186263	0.85864	D	0.908	0.97512	.	.	0.378322506985	0.37446	0.9769360098311966	0.97683	0.274884690193	0.29973	0.578878283501	0.49928	T	0.302382	0.67478	T	0.320986	0.84543	D	0.478343	0.94175	D	0.995692074298859	0.87897	D	0.749125	0.38939	T	0.9454973	0.95807	0.8909257	0.94333	0.9454973	0.95807	0.8909257	0.94333	-13.29	0.90521	D	.	.	0.831	0.78771	P	.;.;.	.;.;.	3.805820	0.54866	23.5	0.99143937846840802	0.53627	0.94407	0.61067	D	AEFDBHCI	0.727594	0.67589	D	0.77331150505992	0.84414	8.280694	0.618496717426001	0.76285	6.462615	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.56	4.56	0.55644	4.177000	0.58072	2.220000	0.31442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:1.0:0.0:0.0	17.123	0.86585	685	0.59416	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2289.33	187	chr7	108091774	.	C	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.153;SOR=0.678	GT:AD:DP:GQ:PL	0/1:99,88:187:99:2303,0,2612	18	0	1	0
chr7	116250456	116250456	C	T	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon4:c.C662T:p.A221V,TES:NM_152829:exon4:c.C635T:p.A212V	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0003	0.0071885	0.0048	0	0	0.0297	0.0272	0.0015	0.0097	0.0005	0.0039456	610	154602	rs2272193	0.0028	0.0028	0.0029	0.0027	0.0510	0.0027	0.0027	0.0491	0.0484	9.299e-05	2.53e-05	0	0.0510	0.0260	0	0.0004	0.0024	0.0010	0.0036	0.0036	0.0023	0.0049	0.0324	0.0033	0.0032	0.0284	0.0269	7.218e-05	0	0	0	0.0324	0.0297	0	0.0007	0.0019	0.0015	0.007	0.61437	D	0.103	0.38305	T	0.009	0.15093	B	0.027	0.21085	B	0.024811	0.26197	N	0.360697	0.99947	0.81001	D	0.805	0.20218	L	0.13	0.60973	T	-1.42	0.34992	N	0.051	0.03175	-1.0713	0.09129	T	0.029	0.12673	T	10	0.0032298863	0.00055	T	.	.	.	0.215	0.50805	.	.	0.725170957636	0.72274	0.3878547132728783	0.38700	0.0680820293278	0.07622	0.287238270044	0.08522	T	0.289469	0.66226	T	-0.329013	0.06186	T	-0.195123	0.55108	T	0.0295455981582917	0.01919	T	0.775222	0.40690	T	0.07361721	0.16462	0.10485912	0.25194	0.07361721	0.16461	0.10485912	0.25194	-3.749	0.21493	T	.	.	0.082	0.11124	B	.;.	.;.	2.640216	0.34352	19.60	0.99810294881326356	0.89442	0.91276	0.53208	D	AEFBHCI	0.334969	0.43356	N	0.0298669107170779	0.43216	2.618975	0.12649873867184	0.45909	2.845826	0.999999991455389	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.683672	0.66515	0	.	.	5.39	5.39	0.77615	2.700000	0.46753	1.102000	0.24078	0.599000	0.40250	0.652000	0.28189	0.000000	0.08366	0.826000	0.38927	0.0:0.8584:0.1416:0.0	15.049	0.71519	721	0.55360	.;.	.	.	.	.	rs2272193	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	467.33	48	chr7	116250456	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=669;ExcessHet=0;FS=6.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-2.089;SOR=0.184	GT:AD:DP:GQ:PL	0/1:29,19:48:99:481,0,847	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,27:237:99:0|1:128479325_T_C:463,0,8715:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,27:237:99:0|1:128479325_T_C:463,0,8715:128479325	3	0	9	7
chr7	128844965	128844965	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon21:c.G3500A:p.R1167H,FLNC:NM_001458:exon21:c.G3500A:p.R1167H	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	225	0	1	0	2	0.00442478	.	.	.	833046	Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_provided	MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.329	0.08289479312	.	0.000199681	1.662e-05	0.0001	0	0	0	1.505e-05	0	0	1.94e-05	3	154602	rs574074583	1.095e-05	1.094e-05	6.808e-06	1.513e-05	0.0002	6.48e-06	5.25e-06	6.52e-06	5.03e-06	2.987e-05	0	0	0	0	0.0002	1.169e-05	0	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	2.939e-05	5.23e-06	2.45e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.939e-05	0	0	0.335	0.12920	T	0.161	0.31326	T	0.015	0.65571	B	0.014	0.61978	B	0.000010	0.62929	D	0.061394	0.90334	0.36225	D	1.14	0.29013	L	-2.88	0.91533	D	-1.72	0.42191	N	0.22	0.25377	0.256	0.86851	D	0.669	0.88508	D	10	0.14908987	0.28221	T	0.082895	0.73998	D	0.329	0.65126	.	.	0.807189353503	0.80538	0.2922678147816797	0.29139	0.360697941279	0.37734	0.589887738228	0.51478	T	0.433589	0.78097	T	-0.0876558	0.38461	T	-0.18216	0.56323	T	0.301628530025482	0.25071	T	0.69953	0.31049	T	0.086337075	0.20063	0.046937663	0.06651	0.086337075	0.20063	0.046937663	0.06651	-6.449	0.50410	T	0.1798978336925167	0.23126	0.071	0.03849	B	.;.	.;.	4.611068	0.73122	25.9	0.99186806470744227	0.54848	0.94426	0.61127	D	AEFBCI	0.490430	0.52791	N	0.00103235339715214	0.41903	2.514784	0.116020557208677	0.45367	2.801185	0.999990041750193	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.645312	0.48771	0	0.733575	0.97253	0	.	.	5.56	4.68	0.58319	3.060000	0.49648	7.687000	0.65600	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.667000	0.33166	0.2228:0.0:0.7772:0.0	8.898	0.34638	593	0.68665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2345.33	181	chr7	128844965	.	G	A	2345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.3;DP=949;ExcessHet=0;FS=4.381;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.04;SOR=1.051	GT:AD:DP:GQ:PL	0/1:101,80:181:99:2359,0,2528	18	0	1	0
chr7	128890943	128890943	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon20:c.C2126T:p.A709V,KCP:NM_199349:exon20:c.C2126T:p.A709V	.	324	1166	27	5	0	37	0.0156184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	0	.	.	0	.	0	0.0006921	107	154602	rs142146217	0.0078	0.0064	0.0077	0.0079	0.0236	0.0077	0.0076	0.0192	0.0175	0.0044	0.0063	0.0050	0	0.0041	0.0236	0.0082	0.0079	0.0053	0.0071	0.0071	0.0075	0.0067	0.0098	0.0067	0.0066	0.0091	0.0089	0.0041	0.0186	0.0065	0.0046	0.0002	0.0049	0.0274	0.0098	0.0100	0.0064	.	.	.	0.047	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.26111	.	.	.	.	.	.	.	0.0073870122	0.00168	T	.	.	.	.	.	.	.	0.343334270461	0.33943	0.2254635075436212	0.22461	.	.	0.637730777264	0.58241	T	0.023234	0.17773	T	-0.238041	0.15600	T	-0.108592	0.62724	T	.	.	.	0.516848	0.16688	T	0.053548023	0.10148	0.22741485	0.47750	0.053548023	0.10147	0.22741485	0.47749	-9.267	0.69400	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.598436	0.33719	19.42	0.97280268731145969	0.33181	0.65780	0.32852	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999948015	0.74766	0.110573	0.02883	0	0.166317	0.03975	0	0.119651	0.03204	0	0.109499	0.03221	0	0.961317	0.65959	4.15	4.15	0.47978	1.230000	0.32214	1.427000	0.26414	0.483000	0.22176	0.006000	0.17386	0.012000	0.20211	0.688000	0.33778	0.0:0.0:1.0:0.0	14.299	0.65887	546	0.72524	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC 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	0.026611	0.031250	0.084746	0.011236	0.000000	0.000000	0.006410	0.039474	0.02632	270.33	25	chr7	128890943	.	G	A	270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.544;DP=428;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.507;SOR=1.802	GT:AD:DP:GQ:PL	0/1:14,11:25:99:284,0,336	18	0	1	0
chr7	128891497	128891497	-	CTC	exonic	KCP	.	nonframeshift insertion	KCP:NM_001366122:exon18:c.1831_1832insGAG:p.G610_A611insG,KCP:NM_199349:exon18:c.1831_1832insGAG:p.G610_A611insG	.	413	1096	13	0	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00239617	0.0075	0.0008	0.0042	0	0.0063	0.0180	0	0.0013	0.0016136	42	26028	rs140670582	0.0094	0.0090	0.0095	0.0092	0.0160	0.0092	0.0092	0.0133	0.0123	0.0017	0.0054	0.0164	2.799e-05	0.0026	0.0160	0.0107	0.0085	0.0016	0.0073	0.0073	0.0077	0.0069	0.0115	0.0070	0.0068	0.0108	0.0105	0.0016	0.0175	0.0084	0.0193	0	0.0015	0.0136	0.0115	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011927	0.021505	0.013793	0.007937	0.000000	0.022727	0.005263	0.000000	0.02632	1452.29	66	chr7	128891497	.	G	GCTC	1452.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.099;DP=741;ExcessHet=0;FS=0.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22;ReadPosRankSum=1.64;SOR=0.806	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1466,0,1096	18	0	1	0
chr7	132146671	132146671	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon28:c.G4894A:p.D1632N	.	.	.	.	.	.	.	.	.	.	.	3514111	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.0150287162273	.	.	8.279e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs758764974	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.987e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	4.496e-06	0	2.319e-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	0.023	0.48186	D	0.324	0.18903	T	1.0	0.90584	D	0.982	0.75477	D	0.000807	0.41658	D	0.292545	1	0.81001	D	2.075	0.57047	M	2.76	0.11515	T	-3.19	0.64593	D	0.869	0.86618	-1.1323	0.01675	T	0.098	0.36651	T	10	0.8085903	0.80169	D	0.015029	0.35522	T	0.241	0.54641	0.397	0.42426	0.702272480429	0.69969	0.5757429342268128	0.57503	1.4846325006	0.86771	0.759191691875	0.75809	T	0.211966	0.57288	T	-0.343753	0.05133	T	-0.550026	0.17323	T	0.854241788387299	0.50535	D	0.991541	0.97335	D	0.14507109	0.33272	0.19886373	0.43740	0.14507109	0.33271	0.19886373	0.43739	-12.534	0.87355	D	.	.	0.625	0.70755	P	.;.	.;.	5.423565	0.90727	31	0.99929665887861618	0.99279	0.97637	0.76068	D	AEFDBI	0.913902	0.87653	D	0.839495976435044	0.88501	9.603	0.826748523129788	0.91586	10.96345	1.0	0.98316	0.562547	0.31514	0	0.563428	0.19063	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.799000	0.84507	7.676000	0.65050	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	20.054	0.97638	916	0.20744	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	108	chr7	132146671	.	C	T	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=740;ExcessHet=0;FS=5.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.325;SOR=1.243	GT:AD:DP:GQ:PL	0/1:66,42:108:99:1006,0,1635	18	0	1	0
chr7	134993564	134993564	G	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367812:exon4:c.G196A:p.V66M,AGBL3:NM_001367813:exon4:c.G196A:p.V66M,AGBL3:NM_001367816:exon4:c.G196A:p.V66M,AGBL3:NM_001367817:exon4:c.G196A:p.V66M,AGBL3:NM_001367818:exon4:c.G196A:p.V66M,AGBL3:NM_178563:exon4:c.G196A:p.V66M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00810550918857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056137967	4.287e-06	4.104e-06	2.82e-06	5.795e-06	0.0002	1.54e-06	1.01e-06	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.707e-06	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.064	0.44905	T	0.998	0.73220	D	0.973	0.72923	D	0.000005	0.62929	D	0.062772	0.67326	0.39298	D	1.1	0.28011	L	0.81	0.48460	T	-0.91	0.24460	N	0.429	0.46835	-0.4971	0.68754	T	0.233	0.59953	T	10	0.28249937	0.45828	T	0.008106	0.21495	T	0.137	0.36984	0.192	0.10304	0.144782658237	0.14088	0.47380778164251147	0.47299	.	.	0.755749046803	0.75297	T	.	.	.	-0.0247833	0.48168	T	-0.273376	0.47477	T	0.954644560813904	0.64315	D	0.859214	0.55036	D	.	.	.	.	.	.	.	.	-5.763	0.44250	T	.	.	0.665	0.71550	P	.;.	.;.	4.437157	0.68866	25.3	0.99906116964835978	0.97651	0.77447	0.38080	D	AEFBHCI	0.429534	0.49261	N	0.685887973247527	0.78706	6.92627	0.690929699841171	0.81690	7.585938	0.999999799141233	0.74766	0.421363	0.06395	0	0.518115	0.08659	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	5.66	5.66	0.87293	4.149000	0.57864	7.170000	0.57724	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0807:0.0:0.9193:0.0	11.932	0.52135	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	134	chr7	134993564	.	G	A	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.726;SOR=0.693	GT:AD:DP:GQ:PL	0/1:78,56:134:99:1223,0,1774	18	0	1	0
chr7	139417589	139417589	A	C	exonic	FMC1-LUC7L2;LUC7L2	.	nonsynonymous SNV	LUC7L2:NM_016019:exon9:c.A861C:p.E287D,FMC1-LUC7L2:NM_001244584:exon10:c.A1059C:p.E353D,LUC7L2:NM_001244585:exon10:c.A852C:p.E284D,LUC7L2:NM_001270643:exon10:c.A858C:p.E286D	.	430	1074	17	1	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0060	0.00479233	0.0091	0.0010	0.0043	0	0.0236	0.0096	0.0167	0.0138	0.0086157	1332	154602	rs118183173	0.0092	0.0092	0.0088	0.0096	0.0138	0.0091	0.0090	0.0131	0.0129	0.0007	0.0036	0.0034	0	0.0227	0.0087	0.0093	0.0075	0.0138	0.0076	0.0076	0.0069	0.0083	0.0135	0.0073	0.0071	0.0108	0.0099	0.0008	0	0.0068	0.0026	0.0002	0.0229	0.0034	0.0102	0.0047	0.0135	0.156	0.24090	T	0.691	0.07468	T	0.002	0.09854	B	0.004	0.10090	B	0.008616	0.30756	N	0.386975	.	.	.	0.72	0.18721	N	3.28	0.29602	T	0.45	0.03955	N	0.413	0.45520	-1.0407	0.17101	T	0.025	0.10866	T	9	0.005338609	0.00117	T	.	.	.	0.031	0.07369	0.166	0.07071	0.0675242888579	0.06100	0.11001872227219425	0.10930	0.35639358059	0.37383	.	.	.	0.006647	0.06077	T	-0.53274	0.00370	T	-0.523741	0.19916	T	0.00975724902458121	0.00128	T	0.868613	0.57716	D	0.030150305	0.02628	0.047542896	0.06869	0.030150305	0.02628	0.047542896	0.06869	-3.311	0.13879	T	.	.	0.103	0.20313	B	.;.;.;.;.	.;.;.;.;.	2.282966	0.29193	18.04	0.97905783356081255	0.36773	0.79641	0.39504	D	AEFBHI	0.215066	0.34046	N	-0.676192870899167	0.16700	0.853223	-0.49681784676437	0.22242	1.207089	0.110448304105022	0.16633	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	0.858	0.18168	0.694000	0.25190	2.580000	0.33410	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6097:0.1267:0.2636:0.0	5.984	0.18653	802	0.44336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.008621	0.012195	0.011364	0.02632	2699.33	233	chr7	139417589	.	A	C	2699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=874;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.141;SOR=0.799	GT:AD:DP:GQ:PL	0/1:119,114:233:99:2713,0,3059	18	0	1	0
chr7	140694799	140694799	C	T	exonic	ADCK2	.	nonsynonymous SNV	ADCK2:NM_052853:exon8:c.C1877T:p.P626L	.	430	1074	17	1	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0005	0.00259585	0.0029	0.0004	0.0004	0	0	0.0012	0.0022	0.0163	0.0025161	389	154602	rs55922126	0.0018	0.0018	0.0013	0.0023	0.0151	0.0017	0.0017	0.0144	0.0142	0.0003	0.0003	0.0004	0	5.633e-05	0.0057	0.0010	0.0016	0.0151	0.0010	0.0010	0.0007	0.0013	0.0139	0.0008	0.0008	0.0112	0.0102	0.0001	0	0.0003	0.0003	0.0002	0	0.0034	0.0010	0.0005	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.736760	0.09809	N	0.870827	1	0.08975	N	-0.41	0.02942	N	2.99	0.17761	T	1.04	0.02638	N	0.064	0.03613	-0.9845	0.33951	T	0.019	0.08173	T	10	0.0072919726	0.00166	T	.	.	.	0.019	0.03383	.	.	0.0762999501168	0.06990	0.22791940628773866	0.22706	1.39264144721	0.85030	0.24094453454	0.02876	T	0.001899	0.01317	T	-0.650119	0.00072	T	-0.693653	0.06180	T	0.0611959489277567	0.07355	T	0.553245	0.19112	T	0.02614951	0.01635	0.048387688	0.07176	0.02614951	0.01635	0.048387688	0.07175	-2.601	0.06511	T	.	.	0.083	0.09917	B	.;.	.;.	1.610553	0.20578	14.81	0.97904049985376407	0.36766	0.02344	0.06696	N	AEFBI	0.059739	0.11306	N	-1.29855775868106	0.03694	0.1654428	-1.3274549770825	0.04079	0.1916462	0.152681847867956	0.17466	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.88	-2.63	0.05775	-0.604000	0.05763	-2.394000	0.03809	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.269:0.2802:0.4509	6.723	0.22529	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.007576	0.02632	2678.33	169	chr7	140694799	.	C	T	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=844;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.525;SOR=0.634	GT:AD:DP:GQ:PL	0/1:74,95:169:99:2692,0,1658	18	0	1	0
chr7	141664919	141664919	C	T	exonic	DENND11	.	nonsynonymous SNV	DENND11:NM_001080392:exon7:c.G1088A:p.R363Q	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0106361113871	.	.	4.957e-05	0	0	0.0003	0	3.604e-05	0	7.02e-05	3.88e-05	6	154602	rs759216455	2.055e-05	2.052e-05	1.771e-05	2.342e-05	0.0001	1.458e-05	1.265e-05	3.35e-05	1.983e-05	0	2.247e-05	0	0.0001	0	0	1.53e-05	4.974e-05	5.832e-05	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.144	0.25255	T	0.337	0.18178	T	.	.	.	.	.	.	0.000001	0.62929	D	0.057217	0.744138	0.33855	D	.	.	.	.	.	.	-0.61	0.21215	N	0.424	0.47765	-0.7774	0.56448	T	0.137	0.45280	T	9	0.30803233	0.48302	T	0.010636	0.27409	T	0.089	0.25827	0.43	0.47843	0.21279746466	0.20884	0.37220155021636636	0.37134	0.414142546602	0.42099	0.453537285328	0.32427	T	.	.	.	-0.271702	0.11568	T	-0.358758	0.38196	T	0.104959282340405	0.12894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23640	B	.;.	.;.	3.829148	0.55335	23.6	0.998439041867767	0.92403	0.79147	0.39165	D	AEFDBCI	0.374082	0.45912	N	0.171437171627568	0.49831	3.17924	0.290201561212822	0.54966	3.660269	0.999998805256121	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.242000	0.58509	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	17.070	0.86446	675	0.60470	.;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	134	chr7	141664919	.	C	T	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=836;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=2.11;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,71:134:99:1|0:141664912_G_A:1959,0,2388:141664912	18	0	1	0
chr7	149765079	149765079	C	T	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1423A:p.V475I	.	425	1061	34	2	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00139776	0.0049	0.0015	0.0114	0	0	0.0099	0	0.0016	0.0017982	278	154602	rs200292588	0.0052	0.0049	0.0052	0.0051	0.0133	0.0050	0.0050	0.0108	0.0098	0.0017	0.0039	0.0049	3.083e-05	0.0003	0.0133	0.0058	0.0054	0.0016	0.0036	0.0036	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0035	0.0081	0	0.0007	0.0274	0.0058	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.124	0.26825	B	0.037	0.23121	B	0.141921	0.18261	U	0.290048	1	0.20048	N	-0.05	0.04954	N	2.48	0.14657	T	-0.08	0.08187	N	0.036	0.01068	-0.9619	0.38819	T	0.015	0.05849	T	10	0.0051863194	0.00113	T	.	.	.	0.028	0.06331	.	.	0.110078149338	0.10416	0.12038871058306477	0.11965	0.90605360512	0.70852	0.896112501621	0.95997	D	0.002422	0.01816	T	-0.710448	0.00032	T	-0.790813	0.02142	T	0.0120901311861236	0.00192	T	0.452755	0.12846	T	0.02658357	0.01734	0.05044717	0.07918	0.02658357	0.01734	0.05044717	0.07917	-5.618	0.42956	T	.	.	0.161	0.35643	B	.	.	1.442480	0.18620	13.84	0.97761160531471991	0.35807	0.05583	0.11485	N	AEFDBHCI	0.075218	0.15099	N	-0.867315500954441	0.11627	0.5620979	-0.751374697420605	0.15689	0.8263525	0.999999362224792	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	3.82	2.94	0.33188	-0.181000	0.09734	3.219000	0.36843	-0.193000	0.09282	0.000000	0.06391	0.282000	0.24114	0.046000	0.14843	0.0:0.8983:0.0:0.1017	10.110	0.41728	982	0.03397	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	0.012605	0.011494	0.015449	0.012121	0.000000	0.000000	0.025806	0.000000	0.02632	683.33	44	chr7	149765079	.	C	T	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=724;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.529;SOR=1.061	GT:AD:DP:GQ:PL	0/1:21,23:44:99:697,0,409	18	0	1	0
chr7	150628640	150628640	C	G	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.G168C:p.Q56H	.	435	1066	21	0	0	21	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.00119808	0.0039	0.0005	0.0022	0	0.0004	0.0063	0.0048	0.0016	0.0026455	409	154602	rs148793735	0.0044	0.0043	0.0045	0.0043	0.0052	0.0043	0.0043	0.0051	0.0050	0.0007	0.0021	0.0011	0	0.0007	0.0010	0.0052	0.0038	0.0017	0.0030	0.0031	0.0033	0.0027	0.0056	0.0028	0.0027	0.0052	0.0050	0.0006	0	0.0025	0.0006	0	0	0.0034	0.0056	0.0009	0.0021	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.284752	0.03856	U	2.780850	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9842	0.34022	T	0.074	0.29928	T	6	0.0043741465	0.00089	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.20887290885808846	0.20803	.	.	0.261247158051	0.05040	T	.	.	.	-0.462762	0.00945	T	-0.435445	0.29319	T	0.00832272029620834	0.00100	T	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.678230	0.10466	7.185	0.43036293542867998	0.03212	0.04629	0.10294	N	AEFBCI	.	.	.	-0.759156796233761	0.14386	0.7161691	-0.948038266060922	0.10969	0.5559042	0.999612253785756	0.40981	0.096616	0.02514	0	0.100175	0.03081	0	0.063197	0.01477	0	0.089868	0.02511	0	0.131693	0.25914	2.76	0.78	0.17701	0.888000	0.27904	0.322000	0.17195	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2758:0.5809:0.0:0.1433	3.468	0.07122	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	733.33	78	chr7	150628640	.	C	G	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=1.55;SOR=0.645	GT:AD:DP:GQ:PL	0/1:46,32:78:99:747,0,1150	18	0	1	0
chr7	151050770	151050770	C	G	exonic	ASIC3	.	nonsynonymous SNV	ASIC3:NM_004769:exon4:c.C826G:p.P276A,ASIC3:NM_020321:exon4:c.C826G:p.P276A,ASIC3:NM_020322:exon4:c.C826G:p.P276A	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0782543641156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778006863	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.62352	D	0.997	0.90584	D	0.974	0.88582	D	0.001882	0.37740	U	0.000000	0.999973	0.53665	D	2.475	0.71894	M	-0.23	0.66652	T	-7.36	0.94647	D	0.568	0.59138	0.079	0.83789	D	0.529	0.82496	D	10	0.75739247	0.76086	D	0.078254	0.72961	D	0.357	0.67782	0.527	0.63263	0.851751493218	0.85032	0.5278378432048194	0.52707	0.46544967757	0.45983	0.598641037941	0.52711	T	0.512638	0.82800	D	0.0553625	0.59029	T	-0.158252	0.58509	T	0.993037641048431	0.83685	D	0.999081	0.99613	D	0.7582439	0.81350	0.84345424	0.91067	0.7582439	0.81351	0.84345424	0.91068	-8.491	0.64713	D	.	.	0.151	0.33458	B	.;.;.	.;.;.	4.524968	0.70976	25.6	0.99584349710920295	0.73218	0.91408	0.53473	D	AEFBCI	0.595253	0.58988	D	0.758347100730128	0.83447	8.020095	0.699210630578699	0.82318	7.737587	0.999999999999996	0.74766	0.59774	0.34471	0	0.588066	0.40923	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.06	5.06	0.67838	5.006000	0.63731	7.557000	0.60396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	16.296	0.82596	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	806.33	65	chr7	151050770	.	C	G	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.145;SOR=0.672	GT:AD:DP:GQ:PL	0/1:34,31:65:99:820,0,992	18	0	1	0
chr7	151409583	151409583	C	T	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284260:exon1:c.G7A:p.G3S,WDR86:NM_198285:exon1:c.G7A:p.G3S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0525088019398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241505549	1.619e-06	4.788e-06	1.569e-06	1.671e-06	1.769e-05	2.7e-07	1e-07	.	.	0	0	0	0	0	0	9.939e-07	0	1.769e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.831	0.31235	T	0.657	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-1.78	0.00307	N	0.51	0.60610	T	0.14	0.05706	N	0.11	0.26596	-1.0019	0.29372	T	0.048	0.20672	T	9	0.026828557	0.00841	T	0.052509	0.65097	D	0.113	0.31778	0.249	0.18602	0.0986583533028	0.09354	0.2414707927513571	0.24061	0.364245093393	0.38034	0.676544129848	0.63774	T	0.001636	0.01065	T	-0.106869	0.35287	T	-0.391286	0.34400	T	0.12506304112531	0.14918	T	0.70513	0.31558	T	0.03847952	0.05134	0.08837233	0.20601	0.03847952	0.05134	0.08837233	0.20600	-3.632	0.19318	T	.	.	0.088	0.11558	B	.;.	.;.	2.567971	0.33271	19.29	0.98495739713012653	0.42156	0.33002	0.24723	N	AEFDBHCI	0.125179	0.24156	N	-1.05082992822738	0.07571	0.3521716	-0.878695319352269	0.12599	0.6490484	0.999964557120291	0.48965	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.86	2.01	0.25568	1.724000	0.37685	3.515000	0.38865	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.569000	0.30626	0.0:0.5891:0.0:0.4109	5.243	0.14799	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	207.33	19	chr7	151409583	.	C	T	207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.16;SOR=0.73	GT:AD:DP:GQ:PL	0/1:11,8:19:99:221,0,297	18	0	1	0
chr7	152252652	152252652	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon10:c.A1363G:p.I455V	.	420	1098	4	0	0	4	0.00181818	.	.	.	1591310	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0148220772325	.	0.000599042	0.0003	0	8.853e-05	0	0	4.618e-05	0	0.0016	0.0002135	33	154602	rs534592021	0.0001	0.0001	6.401e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0003	1.08e-05	6.626e-05	0.0018	7.222e-05	7.218e-05	3.856e-05	0.0001	0.0019	3.968e-05	3.125e-05	0.0010	0.0007	0	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0019	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012569	0.29128	N	0.151633	0.991325	0.24050	N	-1.16	0.00885	N	-1.36	0.80125	T	-0.12	0.08809	N	0.106	0.09066	-1.0185	0.24204	T	0.154	0.48516	T	10	0.011436224	0.00250	T	0.014822	0.35183	T	0.145	0.38592	.	.	0.151262610727	0.14761	0.0625547725681985	0.06195	0.0329200624865	0.03442	0.318076550961	0.13130	T	0.053775	0.29538	T	-0.450849	0.01117	T	-0.455768	0.27061	T	0.0108098637797768	0.00153	T	0.829717	0.49530	T	0.013872361	0.00073	0.023559904	0.00369	0.013872361	0.00072	0.023559904	0.00369	-0.924	0.00919	T	0.04793663820807045	0.00719	0.082	0.08948	B	.;.	.;.	2.087143	0.26551	17.16	0.88717538881568947	0.18199	0.54967	0.29746	D	AEFBI	0.046382	0.07695	N	-0.655468177743683	0.17301	0.8890993	-0.402184532281008	0.24933	1.368187	0.184253096194463	0.17913	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.03	3.05	0.34272	0.885000	0.27865	1.164000	0.24574	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	1.000000	0.97212	0.15:0.6386:0.0:0.2113	6.669	0.22245	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1409.33	148	chr7	152252652	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.627;DP=772;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=2.24;SOR=0.986	GT:AD:DP:GQ:PL	0/1:89,59:148:99:1423,0,2223	18	0	1	0
chr8	6811976	6811976	C	A	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G1283T:p.S428I,XKR5:NM_001289973:exon8:c.G794T:p.S265I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00279553	0.0013	0.0127	0.0033	0	0	0.0001	0	0	0.0003428	53	154602	rs77060482	0.0003	0.0003	0.0003	0.0003	0.0108	0.0003	0.0003	0.0098	0.0095	0.0108	0.0004	0	0	0	0	5.561e-06	0.0007	5.048e-05	0.0028	0.0028	0.0027	0.0028	0.0097	0.0026	0.0025	0.0089	0.0086	0.0097	0	0.0010	0	0	0	0.0034	1.47e-05	0.0019	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.42232	L	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	0.0046127737	0.00096	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.378808011205656	0.37795	.	.	0.257255494595	0.04570	T	0.021	0.16130	T	-0.438685	0.01317	T	-0.392529	0.34256	T	.	.	.	0.314569	0.06202	T	0.067189485	0.14526	0.104481675	0.25095	0.067189485	0.14526	0.104481675	0.25095	-6.594	0.51007	T	.	.	0.097	0.15921	B	.	.	0.231202	0.06126	2.570	0.47806470308049154	0.03938	0.19610	0.20727	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999896990488	0.74766	0.156479	0.03450	1	0.166317	0.03975	0	0.114383	0.03170	0	0.075334	0.01956	0	0.0771818	0.17806	5.88	-6.7	0.01602	0.011000	0.13162	-2.430000	0.03764	-1.620000	0.00869	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3105:0.099:0.5905	9.985	0.41004	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3105.33	234	chr8	6811976	.	C	A	3105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=894;ExcessHet=0;FS=2.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.429;SOR=0.901	GT:AD:DP:GQ:PL	0/1:121,113:234:99:3119,0,3079	18	0	1	0
chr8	7973120	7973120	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C134G:p.S45C	.	1324	165	2	31	0	64	0.162437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147564	0.0321	0.0224	0	0.3333	0.7143	0.0352	0	0.2838	0.0124837	1930	154602	rs199984969	0.0049	0.0079	0.0034	0.0063	0.0097	0.0045	0.0043	0.0086	0.0082	0.0006	0.0059	0.0088	0.0043	0.0071	0	0.0097	0.0027	0.0043	0.0002	0.0027	0.0002	0.0001	0.0002	4.188e-05	2.232e-05	4.489e-05	2.315e-05	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.0018361509	0.00025	T	.	.	.	.	.	.	.	.	.	0.03465126907105807	0.03413	.	.	0.502864360809	0.39227	T	0.110821	0.42583	T	-0.515761	0.00466	T	-0.489946	0.23397	T	.	.	.	0.480052	0.14488	T	0.07720802	0.17510	0.159	0.37030	0.07720802	0.17510	0.159	0.37029	-5.09	0.37802	T	.	.	0.086	0.10449	B	.	.	1.202716	0.15947	12.22	0.53259318864439986	0.04905	0.01998	0.06024	N	AEFI	.	.	.	.	.	.	.	.	.	1.32385288154829E-4	0.05486	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.51611	0.39628	0.45	0.45	0.15835	-0.635000	0.05568	-0.101000	0.11941	-0.704000	0.03997	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	42.42	2	chr8	7973120	.	G	C	42.42	.	AC=2;AF=0.2;AN=10;DP=86;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	14
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,121:307:99:0|1:10609947_C_G:1906,0,4837:10609947	11	0	5	3
chr8	12138105	12138105	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C656T:p.P219L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00120761684133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.487e-07	2.148e-06	1.933e-06	0	1.436e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.436e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.003	0.76473	D	0.984	0.60733	D	0.958	0.70027	D	0.002351	0.36727	N	0.171823	0.996794	0.43422	D	3.615	0.93875	H	3.31	0.06291	T	-8.72	0.97670	D	0.193	0.21188	-1.1233	0.02133	T	0.060	0.25018	T	10	0.37267017	0.53596	T	0.001208	0.01583	T	0.098	0.28162	0.64	0.77687	0.551344072312	0.54791	0.015571955266281818	0.01513	1.18424234959	0.80093	0.524103760719	0.42204	T	0.013141	0.11424	T	-0.159743	0.26799	T	-0.467236	0.25814	T	0.890124308303025	0.54091	D	0.849215	0.53152	T	0.23138314	0.45909	0.16349506	0.37924	0.23138314	0.45909	0.16349506	0.37923	-8.779	0.66263	D	.	.	0.196	0.41828	B	.	.	3.106865	0.41893	21.4	0.995865552141185	0.73336	0.46695	0.27817	N	AEFBI	0.132015	0.25116	N	0.270772110659292	0.54674	3.632372	0.0115215566659009	0.40250	2.399051	1.48830095680839E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	0.935	0.18608	1.853000	0.38998	3.923000	0.40484	0.306000	0.19039	0.093000	0.22645	0.914000	0.28189	0.043000	0.14563	0.0:0.0:1.0:0.0	5.345	0.15309	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1887.21	60	chr8	12138105	.	G	A	1887.21	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.29;DP=1864;ExcessHet=0;FS=0;InbreedingCoeff=0.7723;MLEAC=2;MLEAF=0.056;MQ=30.64;MQRankSum=-0.533;QD=31.45;ReadPosRankSum=-1.242;SOR=0.466	GT:AD:DP:GQ:PL	1/1:1,59:60:99:1913,145,0	17	1	0	1
chr8	13090280	13090280	G	C	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348084:exon10:c.C2513G:p.S838W,DLC1:NM_001164271:exon11:c.C2513G:p.S838W,DLC1:NM_001316668:exon11:c.C2837G:p.S946W,DLC1:NM_001348083:exon11:c.C2513G:p.S838W,DLC1:NM_006094:exon11:c.C2735G:p.S912W,DLC1:NM_001348082:exon14:c.C2513G:p.S838W,DLC1:NM_001348081:exon15:c.C4046G:p.S1349W,DLC1:NM_182643:exon15:c.C4046G:p.S1349W	Colorectal cancer, somatic	433	1088	1	0	0	1	0.000459348	.	.	.	2802393	DLC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.550	0.0686527020213	.	.	6.611e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs139251311	3.489e-05	3.489e-05	2.178e-05	4.813e-05	0.0004	2.697e-05	2.438e-05	0.0003	0.0003	0	0	3.826e-05	0	0	0.0003	8.093e-06	1.656e-05	0.0004	3.286e-05	3.284e-05	3.855e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	0.155	0.57480	T	0.106	0.46182	T	0.053	0.62325	B	0.175	0.55225	B	0.000013	0.62929	D	0.119358	1	0.81001	D	2.135	0.59519	M	-1.31	0.79666	T	-3.03	0.64363	D	0.686	0.69213	0.139	0.84870	D	0.557	0.83817	D	10	0.66447204	0.70345	D	0.068653	0.70511	D	0.550	0.81369	0.561	0.68093	0.682298336957	0.67959	0.38780763010604824	0.38695	0.198447039188	0.22225	0.563268959522	0.47729	T	0.485605	0.81244	T	-0.0813158	0.39501	T	-0.0118501	0.69564	D	0.282473704596317	0.24275	T	0.975102	0.91204	D	0.23496509	0.46325	0.21401855	0.45935	0.23496509	0.46325	0.21401855	0.45934	-7.967	0.61356	D	.	.	0.352	0.56690	A	.;.;.;.	.;.;.;.	3.463903	0.48288	22.6	0.99014960699700016	0.50441	0.93104	0.57338	D	AEFBCI	0.829030	0.74802	D	0.266538862000065	0.54462	3.611638	0.270303387168795	0.53812	3.548521	0.999999885193891	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.06	5.06	0.67838	4.871000	0.62737	5.928000	0.51272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0:0.0:1.0:0.0	19.000	0.92809	944	0.12746	START domain|START domain|START 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	.	.	.	.	.	.	.	.	0.02632	1615.33	118	chr8	13090280	.	G	C	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.903;DP=762;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.95;SOR=0.785	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1629,0,1177	18	0	1	0
chr8	13567218	13567218	A	G	exonic	C8orf48	.	nonsynonymous SNV	C8orf48:NM_001007090:exon1:c.A227G:p.Y76C	.	428	1080	13	1	0	15	0.00689655	.	.	.	2820921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00505993214669	0.0042	0.00159744	0.0042	0.0020	0.0058	0	0.0025	0.0067	0.0085	0.0025	0.0016882	261	154602	rs147132901	0.0054	0.0051	0.0054	0.0053	0.0119	0.0053	0.0052	0.0097	0.0088	0.0010	0.0063	0.0035	2.798e-05	0.0014	0.0119	0.0061	0.0049	0.0019	0.0047	0.0047	0.0046	0.0048	0.0101	0.0044	0.0043	0.0088	0.0083	0.0011	0.0307	0.0101	0.0037	0.0002	0.0013	0.0204	0.0063	0.0085	0.0023	0.174	0.22486	T	0.089	0.40426	T	0.282	0.32132	B	0.247	0.38902	B	0.052852	0.02042	N	2.450980	1	0.08975	N	0.205	0.09354	N	1.51	0.30937	T	-0.42	0.14193	N	0.033	0.00882	-1.0404	0.17192	T	0.036	0.15553	T	10	0.0036412477	0.00067	T	0.00506	0.12815	T	0.023	0.04649	.	.	0.165133752707	0.16062	0.037164055958543454	0.03663	.	.	.	.	.	0.014735	0.12488	T	-0.648802	0.00074	T	-0.70059	0.05794	T	0.0149542671943559	0.00319	T	0.367963	0.08605	T	0.035774972	0.04276	0.042581525	0.05103	0.035774972	0.04276	0.042581525	0.05103	-4.106	0.25379	T	.	.	0.084	0.09481	B	.	.	-0.250698	0.02840	0.398	0.91257104982696946	0.20515	0.03618	0.08854	N	AEBCI	0.050517	0.08837	N	-1.24465179671057	0.04370	0.1971146	-1.39003569481461	0.03357	0.1564405	0.999987609368479	0.51787	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.665054	0.64577	0	.	.	4.94	-6.44	0.01749	-0.995000	0.03823	-0.546000	0.08555	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3284:0.3193:0.1258:0.2264	1.068	0.01515	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008728	0.015957	0.000000	0.008929	0.000000	0.083333	0.000000	0.012821	0.02632	1261.33	100	chr8	13567218	.	A	G	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.76;DP=1826;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.012;SOR=0.445	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1275,0,1477	18	0	1	0
chr8	38169864	38169864	C	T	exonic	LSM1	.	nonsynonymous SNV	LSM1:NM_014462:exon3:c.G169A:p.G57S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0325704097246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368341544	9.578e-06	9.577e-06	5.446e-06	1.375e-05	0.0001	5.56e-06	4.35e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.181	0.29346	T	0.807	0.45251	P	0.438	0.45631	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.54	0.13725	N	1.02	0.40749	T	-4.82	0.80851	D	0.785	0.78167	-1.0935	0.04974	T	0.089	0.34298	T	10	0.74741864	0.75389	D	0.03257	0.54358	D	0.312	0.63375	0.49	0.57573	0.582854643734	0.57958	0.7725612028150308	0.77206	1.12731222335	0.78490	0.922370254993	0.98499	D	0.638617	0.88889	D	-0.0862385	0.38694	T	-0.264798	0.48343	T	0.947133183479309	0.62617	D	0.933807	0.75196	D	0.6120152	0.73336	0.5105698	0.71717	0.6120152	0.73337	0.5105698	0.71717	-7.697	0.58987	D	.	.	0.815	0.77969	P	.	.	4.794153	0.77832	26.8	0.9902386855211962	0.50634	0.98850	0.87681	D	AEFBI	0.882654	0.81095	D	0.101807828294213	0.46547	2.893381	0.217563179903793	0.50822	3.270298	0.999999999947245	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	4.83	0.61880	7.829000	0.84892	5.940000	0.51464	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1345:0.8655:0.0:0.0	16.153	0.81449	115	0.95340	LSM domain, eukaryotic/archaea-type|LSM domain, eukaryotic/archaea-type|Sm-like protein Lsm1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2585.33	220	chr8	38169864	.	C	T	2585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=859;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.237;SOR=0.889	GT:AD:DP:GQ:PL	0/1:110,110:220:99:2599,0,2395	18	0	1	0
chr8	39837168	39837168	G	A	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon2:c.C100T:p.R34W,ADAM2:NM_001278114:exon2:c.C100T:p.R34W,ADAM2:NM_001464:exon2:c.C100T:p.R34W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00322263196915	0.0022	0.00119808	0.0005	0.0056	0	0	0	1.504e-05	0	0	0.0004204	65	154602	rs145304406	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0059	0.0069	0.0002	0	0	0	0	3.609e-05	0.0002	3.513e-05	0.0022	0.0022	0.0022	0.0021	0.0077	0.0020	0.0019	0.0070	0.0068	0.0077	0	0.0004	0	0.0002	0	0	5.882e-05	0.0009	0	0.003	0.68238	D	0.009	0.72224	D	0.264	0.77913	B	0.087	0.64984	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	4.98	0.02319	T	-3.61	0.70432	D	0.397	0.45803	-0.9753	0.36059	T	0.011	0.04274	T	8	0.012860894	0.00275	T	0.003223	0.07087	T	0.044	0.11924	.	.	0.383256108077	0.37933	0.727675121907394	0.72711	0.02731850257	0.02790	0.263501286507	0.05314	T	0.170783	0.51865	T	-0.513643	0.00479	T	-0.507699	0.21552	T	0.0493694349515867	0.05389	T	0.830517	0.53201	T	0.22601904	0.45274	0.19503978	0.43159	0.22601904	0.45274	0.19503978	0.43158	-5.991	0.46204	T	.	.	0.134	0.36554	B	.;.;.;.;.	.;.;.;.;.	1.223123	0.16170	12.36	0.99569811126715924	0.72318	0.02225	0.06470	N	AEFI	0.049578	0.08580	N	-0.66890410134482	0.16911	0.8657948	-0.815429056569939	0.14121	0.7362453	2.97917759456485E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	0.737	0.17463	0.021000	0.13381	0.485000	0.18844	0.618000	0.50648	0.001000	0.13787	0.001000	0.17328	0.200000	0.21896	0.0:0.3737:0.4344:0.1919	6.805	0.22957	883	0.28872	.;Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	136	chr8	39837168	.	G	A	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=801;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.419;SOR=0.706	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1376,0,1590	18	0	1	0
chr8	42319645	42319645	G	A	exonic	IKBKB	.	nonsynonymous SNV	IKBKB:NM_001190720:exon14:c.G1385A:p.R462Q,IKBKB:NM_001242778:exon14:c.G1400A:p.R467Q,IKBKB:NM_001556:exon15:c.G1577A:p.R526Q	Immunodeficiency 15, Autosomal recessive	427	1088	7	0	0	7	0.0032066	0.7745	0.482	.	457850	not_provided|Severe_combined_immunodeficiency_due_to_IKK2_deficiency	MedGen:C3661900|MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.140	.	0.0005	0.023762	0.0091	0.0012	0.0003	0.1163	0	9.097e-05	0.0045	0.0031	0.0083117	1285	154602	rs2272736	0.0037	0.0037	0.0038	0.0037	0.1175	0.0036	0.0036	0.1147	0.1135	0.0005	0.0002	0.0002	0.1175	1.885e-05	0.0010	5.076e-05	0.0058	0.0033	0.0045	0.0045	0.0038	0.0053	0.1132	0.0042	0.0041	0.1056	0.1026	0.0013	0	0.0005	0.0003	0.1132	9.45e-05	0	4.412e-05	0.0047	0.0054	0.464	0.12032	T	0.843	0.03579	T	0.064	0.25993	B	0.008	0.18783	B	0.000017	0.62929	D	0.067723	6.13168e-05	0.81001	P	0.895	0.22405	L	-0.74	0.74053	T	-0.11	0.08653	N	0.072	0.09349	-0.9030	0.47673	T	0.007	0.02321	T	9	0.0016427338	0.00020	T	.	.	.	0.140	0.37593	.	.	0.805079097039	0.80325	0.4466651140284344	0.44584	0.502947755807	0.48645	0.385224372149	0.22994	T	0.103558	0.41232	T	-0.448407	0.01154	T	-0.320166	0.42557	T	0.0170176783742573	0.00450	T	0.840716	0.51609	T	0.11381955	0.26877	0.17354718	0.39689	0.18257053	0.39483	0.1934166	0.42909	-2.753	0.08193	T	.	.	0.093	0.14108	B	.;.;.;.	.;.;.;.	3.355106	0.46298	22.3	0.99101621926704753	0.52471	0.89332	0.49733	D	AEFGBHCI	0.689306	0.65002	D	-0.00249362639216851	0.41742	2.502315	0.193685024737001	0.49500	3.152451	0.99999999501522	0.74766	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.683672	0.66515	0	.	.	5.73	5.73	0.89730	5.803000	0.68791	6.700000	0.56368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	19.502	0.95092	649	0.63102	.;.;.;.	.	.	.	.	.	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	0.001011	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	1601.33	122	chr8	42319645	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=747;ExcessHet=0;FS=2.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.96;SOR=0.508	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1615,0,1258	18	0	1	0
chr8	50450727	50450727	G	C	exonic	SNTG1	.	nonsynonymous SNV	SNTG1:NM_001287814:exon7:c.G361C:p.V121L,SNTG1:NM_001321773:exon7:c.G361C:p.V121L,SNTG1:NM_001321777:exon7:c.G361C:p.V121L,SNTG1:NM_001321776:exon8:c.G361C:p.V121L,SNTG1:NM_001321778:exon8:c.G361C:p.V121L,SNTG1:NM_018967:exon8:c.G361C:p.V121L,SNTG1:NM_001287813:exon9:c.G361C:p.V121L,SNTG1:NM_001321775:exon9:c.G361C:p.V121L	.	472	1045	5	0	0	5	0.00238663	0.8942	0.77	.	3220327	SNTG1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.304	0.0101547635181	0.0018	0.00139776	0.0013	0.0005	0.0018	0	0.0002	0.0020	0.0011	0	0.0013648	211	154602	rs138262840	0.0019	0.0019	0.0019	0.0018	0.0039	0.0018	0.0018	0.0026	0.0022	0.0003	0.0017	0.0011	0	0.0003	0.0039	0.0022	0.0023	1.161e-05	0.0017	0.0017	0.0017	0.0016	0.0029	0.0015	0.0014	0.0025	0.0024	0.0005	0	0.0014	0.0017	0	0.0002	0.0272	0.0029	0.0014	0.0002	0.017	0.54683	D	0.022	0.59732	D	0.92	0.90584	P	0.956	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	0.92	0.44461	T	-2.13	0.48354	N	0.656	0.66873	-0.6256	0.63756	T	0.203	0.55961	T	10	0.018587768	0.00406	T	0.010155	0.26346	T	0.304	0.62510	0.726	0.86024	0.52297913765	0.51942	0.631178770529204	0.63051	0.197018668486	0.22071	0.86156386137	0.91342	D	0.028215	0.20489	T	-0.244918	0.14729	T	-0.128262	0.61117	T	0.0296397557293068	0.01935	T	0.945305	0.80045	D	0.43657687	0.63181	0.44279024	0.67517	0.43657687	0.63182	0.44279024	0.67517	-14.884	0.95575	D	.	.	0.965	0.90719	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.491568	0.91489	32	0.99844877158399603	0.92489	0.96486	0.69378	D	AEFBI	0.733120	0.67966	D	0.798428448630151	0.86006	8.749569	0.779947501593349	0.88365	9.555206	0.195679611732712	0.18055	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	6.579000	0.73923	11.654000	0.93914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.670	0.85122	884	0.28482	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	0.004536	0.010101	0.002717	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	1064.33	86	chr8	50450727	.	G	C	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=793;ExcessHet=0;FS=4.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.31;SOR=1.42	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1078,0,1266	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,27:93:8:.:.:8,0,943:.	8	0	10	1
chr8	68134184	68134184	A	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_024870:exon32:c.A3892T:p.M1298L	.	434	1082	5	1	0	7	0.00322432	.	.	.	3203518	PREX2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00940088727086	0.0012	0.000798722	0.0018	0.0003	0.0002	0.0001	0.0053	0.0025	0	0.0003	0.0017205	266	154602	rs78101420	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0002	0.0002	0.0004	0	0.0053	0.0038	0.0019	0.0018	0.0008	0.0013	0.0013	0.0014	0.0013	0.0019	0.0012	0.0011	0.0017	0.0016	0.0003	0	0.0007	0	0	0.0041	0	0.0019	0	0.0012	0.033	0.44358	D	0.076	0.42614	T	0.0	0.02946	B	0.002	0.06944	B	0.000090	0.51296	N	0.174811	0.949142	0.26546	N	0	0.06538	N	0.94	0.43672	T	-0.64	0.18670	N	0.336	0.37717	-1.0455	0.15680	T	0.063	0.26208	T	10	0.007882744	0.00179	T	0.009401	0.24646	T	0.064	0.18567	0.261	0.20473	0.298745278005	0.29478	0.2710049795234357	0.27013	0.136679722396	0.15416	0.65880048275	0.61237	T	0.035825	0.23870	T	-0.470342	0.00846	T	-0.452381	0.27434	T	0.0256103501614294	0.01354	T	0.592541	0.21854	T	0.1156555	0.27288	0.11057367	0.26662	0.1156555	0.27287	0.11057367	0.26661	-2.309	0.04604	T	0.13666283317687547	0.14967	0.092	0.13783	B	.	.	2.150219	0.27389	17.44	0.9290632277484443	0.22463	0.97400	0.74509	D	AEFBI	0.619294	0.60478	D	-0.221576678380531	0.32248	1.816727	-0.032524577613938	0.38255	2.251242	0.0491386883282523	0.14794	0.719381	0.83141	0	0.573888	0.26702	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.42	4.23	0.49319	2.526000	0.45267	9.154000	0.78961	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7755:0.15:0.0745:0.0	7.045	0.24219	97	0.95994	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1877.33	141	chr8	68134184	.	A	T	1877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=775;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.142;SOR=0.831	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1891,0,1665	18	0	1	0
chr8	70156483	70156483	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321713:exon10:c.G1420A:p.G474R,NCOA2:NM_001321703:exon11:c.G1882A:p.G628R,NCOA2:NM_001321707:exon11:c.G1882A:p.G628R,NCOA2:NM_001321711:exon11:c.G1882A:p.G628R,NCOA2:NM_001321712:exon11:c.G1882A:p.G628R,NCOA2:NM_006540:exon11:c.G1882A:p.G628R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0185590978786	0.0009	.	0.0008	0.0001	0.0003	0	0.0002	0.0012	0.0022	0	0.0007697	119	154602	rs201963563	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	8.961e-05	0.0007	0.0041	2.519e-05	0.0004	0	0.0009	0.0009	2.319e-05	0.0009	0.0009	0.0011	0.0007	0.0016	0.0008	0.0007	0.0014	0.0013	7.243e-05	0	0.0005	0.0032	0	0.0005	0	0.0016	0.0010	0	0.006	0.61437	D	0.018	0.59732	D	0.996	0.68779	D	0.616	0.51268	P	0.000830	0.41547	D	0.242899	0.852425	0.35245	D	1.67	0.42885	L	4.71	0.01655	T	-1.76	0.41618	N	0.409	0.44952	-1.0338	0.19236	T	0.014	0.05753	T	10	0.014822245	0.00311	T	0.018559	0.40664	T	0.148	0.39182	0.243	0.17677	0.23524818089	0.23142	0.3427499896510676	0.34187	0.391672544124	0.40365	0.508991599083	0.40081	T	0.352266	0.71972	T	-0.415653	0.01824	T	-0.39446	0.34029	T	0.0467867450746708	0.04926	T	0.949205	0.80472	D	0.11642343	0.27461	0.13401335	0.32123	0.11642343	0.27460	0.13401335	0.32122	-4.736	0.33836	T	.	.	0.221	0.45224	B	.	.	3.146805	0.42582	21.6	0.99804719839297629	0.88906	0.84097	0.43182	D	AEFDBI	0.236202	0.35869	N	0.140051161983413	0.48340	3.047628	0.0452127078495015	0.41840	2.520488	0.9999970952919	0.74766	0.729952	0.87565	0	0.653731	0.59785	0	0.877121	0.99996	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	2.434000	0.44460	6.008000	0.52598	0.599000	0.40250	0.107000	0.22934	0.964000	0.29435	0.160000	0.20649	0.0:1.0:0.0:0.0	19.998	0.97395	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2205.33	153	chr8	70156483	.	C	T	2205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=826;ExcessHet=0;FS=4.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.269;SOR=0.699	GT:AD:DP:GQ:PL	0/1:71,82:153:99:2219,0,1807	18	0	1	0
chr8	76851012	76851012	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G4091T:p.S1364I	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0158183269147	0.0002	0.000599042	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0013	0.0002911	45	154602	rs202188141	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0008	3.826e-05	0	0	0.0005	0.0002	0.0001	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.624e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0017	0.014	0.58626	D	0.019	0.59159	D	.	.	.	.	.	.	0.033105	0.24940	U	0.291648	0.887159	0.37123	D	.	.	.	0.69	0.51714	T	-2.14	0.48523	N	0.349	0.47115	-0.8576	0.51434	T	0.127	0.43339	T	10	0.025031954	0.00710	T	0.015818	0.36761	T	0.103	0.29403	.	.	0.123314135267	0.11883	0.3174596087985122	0.31658	0.196466744012	0.22005	0.363212525845	0.19852	T	.	.	.	-0.337094	0.05592	T	-0.307429	0.43935	T	0.0653872507335989	0.07987	T	0.644935	0.26896	T	.	.	.	.	.	.	.	.	-4.24	0.27327	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	3.402849	0.47165	22.4	0.98786684423702131	0.46222	0.97438	0.74751	D	AEFBI	0.586042	0.58423	D	-0.0461108992965707	0.39776	2.351187	0.0607690685982186	0.42595	2.579112	0.882419080588747	0.25652	0.638212	0.43195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.65	3.76	0.42368	3.392000	0.52279	4.618000	0.44064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1429:0.8571:0.0	15.069	0.71685	801	0.44448	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1557.33	115	chr8	76851012	.	G	T	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=770;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.484;SOR=0.884	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1571,0,1591	18	0	1	0
chr8	97805441	97805441	A	C	exonic	LAPTM4B	.	nonsynonymous SNV	LAPTM4B:NM_018407:exon2:c.A188C:p.D63A	.	429	1091	2	0	0	2	0.000915751	.	.	.	4152860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0268656227305	.	0.000199681	0.0002	0	0	0	0.0002	0.0001	0	0.0010	0.0001682	26	154602	rs537353515	8.919e-05	8.962e-05	5.19e-05	0.0001	0.0010	7.645e-05	7.188e-05	0.0006	0.0005	2.999e-05	2.237e-05	0	0	1.873e-05	0.0010	4.151e-05	0.0002	0.0007	8.641e-05	8.583e-05	3.889e-05	0.0001	0.0006	5.012e-05	4.005e-05	0.0002	9.07e-05	0	0	0.0002	0	0	0	0.0035	8.841e-05	0	0.0006	0.011	0.61437	D	0.076	0.42614	T	.	.	.	.	.	.	0.000001	0.84330	D	0.053861	0.994823	0.42431	D	.	.	.	0.89	0.45636	T	-3.61	0.69477	D	0.387	0.42834	-0.6100	0.64403	T	0.271	0.64297	T	10	0.11721143	0.22130	T	0.026866	0.49739	D	0.268	0.58254	.	.	0.635901989608	0.63291	0.85459930379709	0.85422	1.03127363877	0.75435	0.427728354931	0.28898	T	0.058661	0.30903	T	-0.288064	0.09831	T	-0.275715	0.47241	T	0.433894366025925	0.30204	T	0.788221	0.45098	T	0.44726437	0.63868	0.19534387	0.43206	0.44726437	0.63869	0.19534387	0.43205	-7.54	0.57891	D	.	.	0.309	0.54183	B	.;.;.;.	.;.;.;.	5.027556	0.83596	28.1	0.99551861344441483	0.71211	0.97094	0.72654	D	AEFBI	0.924256	0.90201	D	0.426710953277776	0.62895	4.513255	0.484065357098313	0.66932	5.017073	0.999999764767972	0.74766	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.631631	0.49550	0	.	.	5.07	5.07	0.68106	7.958000	0.87417	9.159000	0.78982	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.653	0.56134	833	0.38804	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	676.33	90	chr8	97805441	.	A	C	676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.84;DP=814;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-0.058;SOR=0.56	GT:AD:DP:GQ:PL	0/1:54,36:90:99:690,0,1329	18	0	1	0
chr8	120811608	120811608	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C236T:p.A79V	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0011	0.00199681	0.0039	0.0010	0.0030	0	0.0014	0.0026	0.0082	0.0100	0.0016235	251	154602	rs201940243	0.0013	0.0013	0.0010	0.0016	0.0102	0.0012	0.0012	0.0081	0.0079	0.0001	0.0008	0.0050	0	0.0003	0.0102	0.0007	0.0016	0.0086	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0003	0.0060	0	0.0007	0.0103	0.0013	0.0005	0.0081	0.313	0.13879	T	0.35	0.17478	T	0.012	0.16265	B	0.007	0.12992	B	0.371210	0.04363	N	1.429480	1	0.08975	N	1.04	0.26193	L	1.04	0.40218	T	-0.82	0.22508	N	0.072	0.04547	-1.0331	0.19459	T	0.058	0.24465	T	10	0.0034614503	0.00061	T	.	.	.	0.030	0.07022	.	.	0.318133320967	0.31420	0.45327639487978616	0.45245	.	.	0.705061197281	0.67876	T	0.225548	0.59031	T	-0.551429	0.00286	T	-0.559034	0.16467	T	0.00172025871911033	0.00018	T	0.542346	0.18433	T	0.05869175	0.11837	0.061272908	0.11804	0.05869175	0.11837	0.061272908	0.11804	-5.537	0.42213	T	.	.	0.082	0.08657	B	.;.	.;.	1.968172	0.25002	16.60	0.97215705365773275	0.32878	0.16176	0.19266	N	AEFDBHCIJ	0.082456	0.16697	N	-0.766014321388156	0.14202	0.7055587	-0.683740317296577	0.17367	0.9231392	0.99999886410472	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.94	3.01	0.33872	0.845000	0.27321	1.235000	0.25068	0.583000	0.30283	0.006000	0.17386	0.010000	0.20010	0.794000	0.37478	0.0776:0.138:0.6416:0.1427	5.809	0.17720	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008595	0.000000	0.004110	0.008772	0.000000	0.017241	0.015337	0.011364	0.05263	2322.83	120	chr8	120811608	.	G	A	2322.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.238;DP=848;ExcessHet=0.119;FS=0.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.444;SOR=0.616	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1473,0,1425	17	0	2	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	0.02632	3276.33	243	chr8	124039935	.	G	A	3276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=902;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-2.502;SOR=0.832	GT:AD:DP:GQ:PL	0/1:113,130:243:99:3290,0,2454	18	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	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:120,59:179:99:209,0,1545	4	0	12	3
chr8	133060105	133060105	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_006748:exon1:c.C176T:p.P59L,SLA:NM_001045557:exon2:c.C107T:p.P36L,SLA:NM_001282964:exon2:c.C107T:p.P36L,SLA:NM_001045556:exon3:c.C56T:p.P19L	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0133200614543	0.0005	0.000798722	0.0013	0.0002	0.0010	0.0001	0	0.0013	0.0023	0.0035	0.0011707	181	154602	rs142984250	0.0010	0.0010	0.0009	0.0011	0.0056	0.0010	0.0009	0.0041	0.0035	0.0002	0.0010	0.0004	2.531e-05	0.0002	0.0056	0.0010	0.0014	0.0026	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0010	0.0007	0.0002	0.0011	0.0010	0.0006	0	0	0	0.0009	0.0019	0.0019	0.186	0.61437	T	0.346	0.24193	T	0.0	0.02946	B	0.0	0.01387	B	0.695486	0.10138	N	0.877436	0.999829	0.20203	N	-0.17	0.04298	N	-1.21	0.78860	T	0.3	0.96961	N	0.093	0.15328	-0.9514	0.40730	T	0.183	0.53163	T	10	0.004124105	0.00081	T	0.01332	0.32631	T	0.063	0.18251	.	.	0.383609287871	0.37977	0.2273057139079158	0.22645	0.226615825231	0.25209	0.330873370171	0.15066	T	0.201249	0.55907	T	-0.421006	0.01685	T	-0.381513	0.35546	T	0.0144387951202033	0.00292	T	0.770523	0.57527	T	0.05445317	0.10451	0.079278484	0.17834	0.05445317	0.10450	0.079278484	0.17834	-3.798	0.20775	T	.	.	0.072	0.10594	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.029876	0.25795	16.89	0.98739727040567737	0.45482	0.07763	0.13762	N	AEFDBIJ	0.219184	0.34410	N	-0.782791865894155	0.13758	0.6801374	-0.668633054031643	0.17746	0.9450282	0.999994605122461	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.54	3.7	0.41607	1.588000	0.36242	4.428000	0.43340	-0.120000	0.14102	0.207000	0.24389	0.987000	0.30940	0.884000	0.42379	0.0896:0.1704:0.74:0.0	7.376	0.26002	816	0.41767	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008595	0.010101	0.006793	0.020710	0.000000	0.017241	0.003049	0.003788	0.02632	766.33	45	chr8	133060105	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=663;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-1.303;SOR=0.502	GT:AD:DP:GQ:PL	0/1:13,32:45:99:780,0,229	18	0	1	0
chr8	133133619	133133619	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon47:c.C8147T:p.S2716F	Thyroid dyshormonogenesis 3, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	1204062	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0484091471997	0.0006	0.000798722	0.0002	0.0018	0	0	0	1.52e-05	0.0011	0	0.0001552	24	154602	rs115574138	6.499e-05	6.498e-05	6.806e-05	6.188e-05	0.0013	5.428e-05	5.041e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0005	2.248e-05	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	6.536e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000066	0.52346	D	0.081660	0.973937	0.40106	D	2.87	0.83286	M	-0.32	0.68181	T	-4.06	0.84105	D	0.877	0.87481	-0.1159	0.79730	T	0.366	0.72620	T	10	0.054094672	0.05705	T	0.048409	0.63358	D	0.376	0.69443	.	.	0.894341928036	0.89329	0.5822501473707253	0.58154	0.391259802463	0.40325	0.488734126091	0.37262	T	0.568788	0.85688	D	-0.131656	0.31229	T	0.00273013	0.70513	D	0.153953880527797	0.17414	T	0.907909	0.67446	D	0.83676404	0.86378	0.71559757	0.83214	0.83676404	0.86379	0.71559757	0.83215	-5.966	0.45994	T	0.6654361425350854	0.73960	0.471	0.72307	A	.;.;.	.;.;.	4.874564	0.79886	27.2	0.99757781046164573	0.84772	0.89059	0.49302	D	AEFBI	0.718148	0.66944	D	0.579463536714644	0.71893	5.720803	0.5069506048791	0.68456	5.222638	0.999999722037718	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	5.656000	0.67659	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	15.785	0.78065	642	0.63909	Carboxylesterase, type B;Carboxylesterase, type B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	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	0.02632	1921.33	169	chr8	133133619	.	C	T	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=812;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.81;SOR=0.635	GT:AD:DP:GQ:PL	0/1:93,76:169:99:1935,0,2365	18	0	1	0
chr8	138153213	138153213	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A1262G:p.H421R,FAM135B:NM_015912:exon13:c.A1262G:p.H421R	.	610	910	2	0	0	2	0.00109769	.	.	.	2428224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00451094409216	8.5e-05	.	0.0001	0.0001	9.314e-05	0	0.0002	0.0002	0	0.0001	9.7e-05	15	154602	rs201680316	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0015	0.0012	6.548e-05	9.512e-05	0	0	3.919e-05	0.0025	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0002	0.0008	9.218e-05	7.369e-05	0.0001	7.983e-05	8.055e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	0.033	0.44358	D	0.657	0.06576	T	0.047	0.21998	B	0.011	0.15521	B	0.204724	0.03345	N	1.526460	1	0.08975	N	2.14	0.59869	M	2.53	0.14038	T	-0.4	0.13805	N	0.204	0.22614	-0.9927	0.31906	T	0.028	0.11971	T	10	0.04423505	0.03359	T	0.004511	0.11094	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.1991046458980922	0.19827	0.0930818480898	0.10513	0.310355633497	0.11960	T	0.025892	0.19273	T	-0.476442	0.00776	T	-0.627318	0.10619	T	0.00870351120829582	0.00107	T	0.59564	0.22108	T	0.05561967	0.10834	0.053901404	0.09168	0.05561967	0.10833	0.053901404	0.09168	-2.6	0.06504	T	.	.	0.070	0.03661	B	.	.	0.941786	0.13173	9.676	0.85408612917582982	0.15874	0.18266	0.20189	N	AEFBI	0.086401	0.17518	N	-0.943613707526911	0.09837	0.4673286	-0.988271798962656	0.10048	0.5036574	1.11585448151231E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	-1.82	0.07433	0.542000	0.22930	0.246000	0.16368	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.645000	0.32557	0.0:0.1534:0.4358:0.4108	6.361	0.20634	962	0.08456	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	861.33	90	chr8	138153213	.	T	C	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.428;DP=1646;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.106;SOR=1.013	GT:AD:DP:GQ:PL	0/1:52,38:90:99:875,0,1388	18	0	1	0
chr8	140287652	140287652	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon12:c.C1910T:p.T637M,TRAPPC9:NM_001374684:exon12:c.C1793T:p.T598M,TRAPPC9:NM_001160372:exon13:c.C1937T:p.T646M,TRAPPC9:NM_001374683:exon13:c.C1937T:p.T646M,TRAPPC9:NM_031466:exon13:c.C1937T:p.T646M,TRAPPC9:NM_001374682:exon14:c.C1958T:p.T653M	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2010507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.0184233097924	.	.	1.649e-05	9.619e-05	0	0.0001	0	0	0	0	1.94e-05	3	154602	rs557827787	5.472e-06	5.472e-06	4.084e-06	6.875e-06	2.519e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	1.159e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.909	0.64565	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	2.045	0.56016	M	.	.	.	-2.17	0.50175	N	0.871	0.86941	-0.4825	0.69277	T	0.354	0.71712	T	9	0.7631878	0.76503	D	0.018423	0.40478	T	0.277	0.59375	0.722	0.85673	0.40218521252	0.39833	0.4464747707900825	0.44565	1.44319622398	0.86010	0.767926156521	0.77114	T	0.072864	0.34558	T	0.260661	0.79590	D	0.318173	0.89015	D	0.712437847970571	0.41320	D	0.953005	0.82069	D	0.28533068	0.51555	0.36531103	0.61882	0.28533068	0.51555	0.36531103	0.61882	-9.007	0.68369	D	.	.	0.211	0.49137	B	.;.;.;.	.;.;.;.	5.536618	0.91924	32	0.99898954225762637	0.97124	0.98075	0.79386	D	AEFGBI	0.840050	0.75739	D	0.692320295036101	0.79129	7.012978	0.707433088601919	0.82942	7.893966	0.999999999993838	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.337000	0.96437	9.677000	0.81235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:1.0:0.0	18.246	0.89921	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2242.33	170	chr8	140287652	.	G	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=876;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.106;SOR=0.729	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2256,0,1833	18	0	1	0
chr8	141357695	141357695	C	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.G229A:p.V77I	.	.	.	.	.	.	.	.	.	.	.	2203134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0402025898077	7.7e-05	.	5.002e-05	0	0	0	0	9.134e-05	0	0	3.88e-05	6	154602	rs374341766	5.201e-05	5.199e-05	5.039e-05	5.365e-05	6.295e-05	4.26e-05	3.889e-05	5.074e-05	4.653e-05	2.987e-05	0	0	0	0	0	6.295e-05	4.968e-05	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.042	0.50226	D	0.994	0.66517	D	0.726	0.55126	P	0.000002	0.62929	D	0.000000	0.995841	0.42885	D	2.12	0.58754	M	1.08	0.39401	T	-0.46	0.14978	N	0.321	0.36148	-0.7990	0.55203	T	0.181	0.52843	T	10	0.2740212	0.44953	T	0.040203	0.59246	D	0.128	0.35103	.	.	0.442567846599	0.43878	0.3362610782119568	0.33539	0.807964130137	0.66590	0.623328387737	0.56199	T	0.023369	0.17850	T	-0.203674	0.20278	T	-0.325789	0.41937	T	0.558865070343018	0.34812	D	0.867413	0.56831	D	0.52391607	0.68484	0.5950908	0.76494	0.52391607	0.68485	0.5950908	0.76495	-6.76	0.52261	T	.	.	0.116	0.23465	B	.	.	4.003608	0.59012	24.0	0.99852721221208218	0.93191	0.93534	0.58479	D	AEFGBI	0.564356	0.57118	D	0.440190350704416	0.63648	4.602734	0.409004172343725	0.62125	4.422808	0.999997073795938	0.74766	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.62	4.62	0.56946	2.335000	0.43588	4.764000	0.44733	0.594000	0.32500	0.956000	0.33378	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	16.417	0.83583	934	0.15400	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3897.33	318	chr8	141357695	.	C	T	3897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1051;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.269;SOR=0.704	GT:AD:DP:GQ:PL	0/1:167,151:318:99:3911,0,3970	18	0	1	0
chr8	143920094	143920094	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G9685A:p.V3229M,PLEC:NM_201379:exon32:c.G9661A:p.V3221M,PLEC:NM_201380:exon32:c.G10138A:p.V3380M,PLEC:NM_201381:exon32:c.G9631A:p.V3211M,PLEC:NM_201382:exon32:c.G9727A:p.V3243M,PLEC:NM_201383:exon32:c.G9739A:p.V3247M,PLEC:NM_201384:exon32:c.G9727A:p.V3243M,PLEC:NM_000445:exon33:c.G9808A:p.V3270M	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1397024	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.245	0.041924149485	8.1e-05	.	4.235e-05	0.0003	0	0	0	3.086e-05	0	0	3.23e-05	5	154602	rs377156107	1.848e-05	1.847e-05	2.18e-05	1.514e-05	0.0003	1.266e-05	1.085e-05	0.0002	0.0001	0.0003	0	0	2.519e-05	0	0	1.079e-05	3.312e-05	1.159e-05	4.598e-05	4.596e-05	3.853e-05	5.377e-05	0.0002	2.108e-05	1.526e-05	7.889e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.053	0.40319	T	0.146	0.36101	T	0.989	0.63424	D	0.578	0.50118	P	0.698099	0.06186	U	1.172930	1	0.08975	N	2.085	0.57729	M	-1.19	0.78860	T	-0.93	0.24898	N	0.216	0.29313	-0.7079	0.60056	T	0.395	0.74815	T	10	0.09698653	0.17434	T	0.041924	0.60190	D	0.245	0.55201	.	.	0.586083665809	0.58282	0.36706981553671797	0.36620	.	.	0.337151944637	0.16012	T	0.260354	0.63172	T	-0.297164	0.08930	T	-0.358656	0.38208	T	0.030114841752039	0.02007	T	0.805819	0.45382	T	0.02869675	0.02247	0.051093534	0.08154	0.02869675	0.02247	0.051093534	0.08153	-7.324	0.56366	T	0.1279639386989081	0.13186	0.141	0.37783	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.741377	0.11106	7.754	0.77031472212330743	0.11708	0.28452	0.23558	N	AEFDGBCI	0.156332	0.28167	N	-0.366589858652784	0.26666	1.457137	-0.51677827635681	0.21698	1.174993	0.999995933065483	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.67	2.84	0.32241	0.132000	0.15716	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7463:0.0:0.2537	8.211	0.30646	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4904.33	412	chr8	143920094	.	C	T	4904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=2149;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.423;SOR=0.676	GT:AD:DP:GQ:PL	0/1:211,201:412:99:4918,0,4831	18	0	1	0
chr8	144095930	144095930	T	C	exonic	CYC1	.	nonsynonymous SNV	CYC1:NM_001916:exon2:c.T227C:p.M76T	Mitochondrial complex III deficiency, nuclear type 6, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	237043	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00462841680877	0.0037	0.000998403	0.0044	0.0007	0.0012	0	0.0070	0.0068	0.0044	0.0005	0.0041914	648	154602	rs144257411	0.0053	0.0053	0.0053	0.0052	0.0063	0.0052	0.0051	0.0061	0.0061	0.0007	0.0012	0.0004	0	0.0077	0.0007	0.0063	0.0035	0.0006	0.0037	0.0037	0.0038	0.0036	0.0060	0.0035	0.0034	0.0055	0.0053	0.0010	0	0.0011	0.0006	0	0.0087	0	0.0060	0.0014	0.0004	0.2	0.20381	T	0.365	0.16717	T	0.0	0.02946	B	0.0	0.01387	B	0.001705	0.38216	N	0.180017	0.999994	0.08975	N	0	0.06538	N	1.6	0.28604	T	0.26	0.04380	N	0.037	0.01135	-1.0322	0.19745	T	0.022	0.09193	T	10	0.0060787797	0.00137	T	0.004628	0.11472	T	0.041	0.10877	.	.	0.278932316844	0.27492	0.43819208571488455	0.43736	0.316260610975	0.33892	0.487932920456	0.37152	T	0.131141	0.46046	T	-0.526457	0.00403	T	-0.519601	0.20335	T	0.00418241749899325	0.00045	T	0.0669933	0.00488	T	0.05842244	0.11750	0.08442583	0.19421	0.06313407	0.13262	0.097455285	0.23198	-4.767	0.34204	T	0.06367226896753775	0.01973	0.155	0.34339	B	.	.	1.686947	0.21495	15.22	0.45185560154780191	0.03528	0.76722	0.37651	D	AEFDGBHCI	0.612370	0.60047	D	-0.842304015352836	0.12239	0.5954094	-0.703553344039731	0.16872	0.8945801	0.999999997672044	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.3	3.12	0.34986	3.610000	0.53874	3.926000	0.40503	0.665000	0.62972	0.972000	0.34453	1.000000	0.68203	0.587000	0.31065	0.0:0.0:0.2135:0.7865	7.749	0.28053	970	0.06235	.	.	.	.	.	chr8:145150833	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1441.33	120	chr8	144095930	.	T	C	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.76;DP=1674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.604;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,60:120:99:0|1:144095929_A_G:1455,0,1555:144095929	18	0	1	0
chr8	144112254	144112254	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon14:c.C2926G:p.L976V	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.501040461613	.	0.000798722	0.0020	0	0	0	0	0.0059	0	0.0004	0.0002975	46	154602	rs141421747	0.0009	0.0008	0.0010	0.0009	0.0228	0.0009	0.0008	0.0191	0.0177	0.0003	0.0007	0.0101	0	2.991e-05	0.0228	0.0004	0.0016	0.0003	0.0007	0.0007	0.0008	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0.0002	0	0.0008	0.0150	0	0	0.0068	0.0005	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	-0.56	0.71187	T	-0.48	0.15379	N	0.217	0.24260	-0.7293	0.58999	T	0.288	0.66007	T	6	0.008880794	0.00201	T	0.50104	0.95152	D	0.067	0.19503	.	.	0.280181792013	0.27631	0.22345629664438724	0.22260	.	.	.	.	.	0.018635	0.14986	T	-0.305125	0.08186	T	-0.322034	0.42350	T	0.10232158726604	0.12611	T	0.541746	0.18406	T	0.09086301	0.21275	0.14674753	0.34755	0.09086301	0.21274	0.14674753	0.34754	-4.721	0.33657	T	.	.	0.157	0.34689	B	.	.	1.863174	0.23667	16.11	0.98760119055797535	0.45800	0.19487	0.20680	N	AEFDGBI	0.110040	0.21835	N	-0.594174907770862	0.19120	0.9982414	-0.692640179703792	0.17144	0.9102916	0.991493738051271	0.32508	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.6	1.83	0.24279	-0.198000	0.09506	0.664000	0.20530	-0.257000	0.07002	0.000000	0.06391	0.203000	0.23585	0.001000	0.02609	0.0:0.683:0.0:0.317	6.062	0.19068	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	.	.	.	.	.	.	.	.	0.02632	1449.33	101	chr8	144112254	.	C	G	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.236;DP=784;ExcessHet=0;FS=2.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.75;SOR=0.436	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1463,0,1399	18	0	1	0
chr8	144398592	144398592	G	C	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon18:c.C1685G:p.T562S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.133645095696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.06090	T	0.0	0.02946	B	0.001	0.04355	B	0.132869	0.02823	N	1.627630	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.143	0.16864	-1.0571	0.12491	T	0.055	0.23300	T	8	0.07321414	0.11032	T	0.133645	0.81603	D	.	.	0.276	0.22845	0.296329037015	0.29243	0.13069900145953686	0.12994	.	.	0.515226483345	0.40955	T	0.032573	0.22544	T	-0.288103	0.09828	T	-0.651616	0.08841	T	0.0245373218501619	0.01212	T	.	.	.	0.094591744	0.22242	0.063193195	0.12483	0.094591744	0.22241	0.063193195	0.12482	-2.565	0.06242	T	.	.	0.065	0.02038	B	.;.	.;.	-0.171103	0.03241	0.546	0.21458448632728319	0.00818	0.33221	0.24776	N	AEFBCI	0.059469	0.11235	N	-1.31983152698749	0.03448	0.1540629	-1.38779553475195	0.03381	0.1576054	0.123083854705659	0.16928	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.470000	0.26722	0.493000	0.25163	0.005000	0.06747	.	.	.	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1971.33	181	chr8	144398592	.	G	C	1971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=909;ExcessHet=0;FS=4.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.243;SOR=0.85	GT:AD:DP:GQ:PL	0/1:105,76:181:99:1985,0,2625	18	0	1	0
chr8	144473375	144473375	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.G2362A:p.G788S	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0053	0.00219649	0.0127	0.0017	0.0080	0	0.0122	0.0204	0	0.0053	0.0047477	734	154602	rs201074786	0.0088	0.0088	0.0090	0.0087	0.0102	0.0087	0.0087	0.0101	0.0100	0.0016	0.0048	0.0075	2.656e-05	0.0040	0.0045	0.0102	0.0079	0.0033	0.0063	0.0063	0.0065	0.0061	0.0100	0.0060	0.0058	0.0094	0.0092	0.0017	0.0099	0.0063	0.0066	0	0.0039	0.0238	0.0100	0.0071	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922249	0.27265	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003955841	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	1.176218	0.15662	12.01	0.79034809031486375	0.12561	0.11736	0.16829	N	AEFDBCI	0.010002	0.00065	N	-0.567136055441639	0.19950	1.048079	-0.732243169405619	0.16160	0.8535348	0.999969881673535	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.48	1.66	0.23081	0.369000	0.20149	1.955000	0.29907	0.618000	0.50648	0.035000	0.20724	0.988000	0.31051	0.039000	0.14166	0.2172:0.0:0.7828:0.0	7.859	0.28662	940	0.13648	.	BOP1	Brain_Hypothalamus	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003564	0.000000	0.005464	0.000000	0.000000	0.008772	0.003125	0.000000	0.02632	2413.33	161	chr8	144473375	.	G	A	2413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=858;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.102;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,97:161:99:2427,0,1401	18	0	1	0
chr8	144514995	144514995	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon9:c.C1561T:p.R521W	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	YES	240300	Baller-Gerold_syndrome|Rapadilino_syndrome|Rothmund-Thomson_syndrome_type_2|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0120870953539	.	0.000199681	0.0003	0	0	0.0003	0	1.755e-05	0.0014	0.0017	0.0002264	35	154602	rs555407951	0.0001	0.0001	7.363e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	5.042e-05	0	0.0007	1.889e-05	0.0002	0.0018	0.0001	0.0001	5.14e-05	0.0002	0.0017	7.088e-05	5.745e-05	0.0008	0.0006	4.813e-05	0	0	0	0	0	0.0136	4.411e-05	0	0.0017	.	.	.	0.003	0.79402	D	0.995	0.67487	D	0.846	0.60472	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.48596	.	.	.	.	.	.	.	0.052181005	0.05212	T	0.012087	0.30348	T	.	.	.	.	0.7477999819	0.74552	0.5781259291144815	0.57741	.	.	0.247867047787	0.03546	T	0.195758	0.55194	T	-0.276892	0.11000	T	-0.177776	0.56729	T	.	.	.	0.919108	0.70849	D	0.35669836	0.57584	0.29931393	0.55965	0.35669836	0.57584	0.29931393	0.55964	-4.879	0.35498	T	0.6141671991312679	0.68199	0.101	0.22318	B	.;.	.;.	3.448042	0.47999	22.5	0.78517561397804714	0.12335	0.65801	0.32859	D	AEFGBHCI	0.477631	0.52054	N	.	.	.	.	.	.	0.999999997810969	0.74766	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.195515	0.04268	0	.	.	5.51	4.63	0.57175	1.174000	0.31541	8.664000	0.77983	0.676000	0.76740	0.818000	0.29961	1.000000	0.68203	0.060000	0.15972	0.0:0.0:0.6765:0.3235	11.533	0.49877	900	0.24599	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.002941	0.000000	0.000000	0.003106	0.000000	0.02632	1664.33	118	chr8	144514995	.	G	A	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=757;ExcessHet=0;FS=3.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.568;SOR=0.378	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1678,0,1480	18	0	1	0
chr9	16215808	16215808	A	G	exonic	C9orf92	.	nonsynonymous SNV	C9orf92:NM_001364979:exon2:c.T61C:p.Y21H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0226961103981	.	.	5.922e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs753380704	1.43e-06	1.368e-06	0	2.9e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.723e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-4.79	0.80595	D	0.082	0.05799	-0.9795	0.35117	T	0.072	0.29163	T	5	0.081323385	0.13300	T	0.022696	0.45612	T	0.192	0.47115	0.42	0.46200	0.0401082797425	0.02173	0.004763896578098993	0.00448	.	.	.	.	.	.	.	.	-0.24708	0.14459	T	-0.464911	0.26067	T	0.15150329373892	0.17223	T	0.440256	0.12156	T	.	.	.	.	.	.	.	.	-3.143	0.11797	T	.	.	0.183	0.39765	B	.	.	-0.140550	0.03408	0.617	0.92373951067285087	0.21780	0.01478	0.04921	N	AEFBI	0.052735	0.09439	N	-0.877666913200557	0.11376	0.5486129	-1.15437564917682	0.06690	0.3228527	0.999990743843369	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	2.35	-4.71	0.03042	-0.806000	0.04632	0.820000	0.21843	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.318:0.1528:0.2552:0.2741	0.193	0.00126	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	116	chr9	16215808	.	A	G	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.49;DP=763;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.16;SOR=0.548	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1153,0,1613	18	0	1	0
chr9	35733405	35733405	A	G	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.A355G:p.R119G	.	431	1053	36	2	0	40	0.0186393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0038	0.00439297	0.0065	0.0010	0.0034	0.0001	0.0132	0.0069	0.0088	0.0111	0.0063389	980	154602	rs11538707	0.0056	0.0056	0.0054	0.0058	0.0116	0.0055	0.0054	0.0103	0.0100	0.0007	0.0027	0.0061	7.557e-05	0.0134	0.0116	0.0052	0.0050	0.0108	0.0041	0.0041	0.0037	0.0046	0.0116	0.0038	0.0037	0.0092	0.0083	0.0009	0	0.0031	0.0035	0	0.0120	0.0068	0.0050	0.0024	0.0116	0.006	0.61437	D	0.168	0.30631	T	.	.	.	.	.	.	0.035232	0.01799	N	1.977850	1	0.08975	N	.	.	.	-1.01	0.76168	T	-2.14	0.48523	N	0.266	0.30118	-0.8323	0.53152	T	0.257	0.62766	T	10	0.007941008	0.00180	T	.	.	.	0.129	0.35316	.	.	0.48447252604	0.48079	0.10674431455268113	0.10604	0.169132673809	0.19067	0.278317034245	0.07259	T	.	.	.	-0.494845	0.00611	T	-0.474192	0.25065	T	0.0265326855937384	0.01479	T	0.545645	0.18668	T	0.18463843	0.39789	0.27675217	0.53622	0.18463843	0.39788	0.27675217	0.53621	-2.862	0.08769	T	.	.	0.100	0.17232	B	.	.	0.877539	0.12505	9.037	0.89253841185197447	0.18639	0.04782	0.10496	N	ALL	0.126382	0.24329	N	-0.941354268813209	0.09888	0.4700162	-1.01968557970873	0.09353	0.4648129	0.999999997267324	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	-1.43	0.08418	0.052000	0.14046	1.933000	0.29783	0.691000	0.84096	0.000000	0.06391	0.293000	0.24176	0.017000	0.10941	0.3462:0.2055:0.4483:0.0	6.497	0.21345	107	0.95615	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.05263	5172.81	168	chr9	35733405	.	A	G	5172.81	.	AC=2;AF=0.053;AN=38;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.79;SOR=1.145	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5200,504,0	18	1	0	0
chr9	74763001	74763001	C	T	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon26:c.G3655A:p.V1219I,TRPM6:NM_001177311:exon26:c.G3655A:p.V1219I,TRPM6:NM_017662:exon26:c.G3670A:p.V1224I	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0042378867831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436505710	4.79e-06	4.788e-06	1.362e-06	8.255e-06	2.52e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.52e-05	0	0	4.498e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22573	T	0.362	0.16964	T	0.021	0.21875	B	0.022	0.22546	B	0.000710	0.42254	N	0.242007	0.652305	0.81001	D	2.47	0.71715	M	2.64	0.12780	T	-0.44	0.14588	N	0.106	0.09066	-1.0761	0.08124	T	0.030	0.12760	T	10	0.060406834	0.07415	T	0.004238	0.10247	T	0.018	0.03083	0.305	0.27485	0.258436476835	0.25460	0.1808474077666376	0.18003	0.214159838503	0.23951	0.370404481888	0.20889	T	0.159152	0.50247	T	-0.374788	0.03358	T	-0.675504	0.07260	T	0.225833043456078	0.21751	T	0.651635	0.26249	T	0.04824507	0.08376	0.058843073	0.10942	0.04824507	0.08376	0.058843073	0.10941	-6.067	0.46836	T	0.22870500863058205	0.30932	0.111	0.22897	B	.;.;.	.;.;.	2.439922	0.31399	18.73	0.98217913846853844	0.39272	0.71005	0.34828	D	AEFHCI	0.210103	0.33603	N	-0.18577940370195	0.33726	1.916698	-0.0293087114949187	0.38397	2.261634	0.997690078344167	0.35915	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.94	4.11	0.47350	0.763000	0.26183	1.903000	0.29595	0.599000	0.40250	0.236000	0.24706	0.979000	0.30280	0.993000	0.69303	0.0:0.7944:0.0:0.2056	10.010	0.41151	795	0.45444	.;.;TRPM, tetramerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7959.33	666	chr9	74763001	.	C	T	7959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=1468;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.365;SOR=0.691	GT:AD:DP:GQ:PL	0/1:356,310:666:99:7973,0,8962	18	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	307.01	78	chr9	86018822	.	G	C	307.01	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.648;DP=1347;ExcessHet=0.7564;FS=158.178;InbreedingCoeff=-0.2266;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.93;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,23:78:45:.:.:45,0,872:.	9	0	4	6
chr9	91724254	91724254	C	T	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_004560:exon9:c.G2240A:p.R747Q	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	270530	Autosomal_recessive_Robinow_syndrome|Brachydactyly_type_B1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.369	0.0421875816267	0.0002	.	0.0002	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs201155263	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0001	0.0003	0	5.038e-05	1.895e-05	0.0007	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	9.42e-05	0.0002	8.668e-05	7.259e-05	0.0001	0.0001	0	0	0.0002	0	0	0	0	0.0002	0	0.0002	0.126	0.27194	T	0.161	0.53426	T	0.933	0.52105	P	0.119	0.32162	B	0.028164	0.25643	N	0.174306	1	0.81001	D	1.895	0.50365	L	-1.11	0.77593	T	-2.09	0.47683	N	0.764	0.76203	-0.5805	0.65597	T	0.225	0.58932	T	10	0.6539493	0.69764	D	0.042188	0.60330	D	0.369	0.68844	.	.	0.908800716689	0.90788	0.6626708128130001	0.66204	0.274973453557	0.29980	0.506133675575	0.39682	T	0.254724	0.62542	T	-0.146158	0.28916	T	-0.146001	0.59596	T	0.0613683672316156	0.07383	T	0.989451	0.96526	D	0.5991716	0.72647	0.276091	0.53551	0.5991716	0.72648	0.276091	0.53550	-10.027	0.74073	D	0.3318399739107717	0.42984	0.148	0.32637	B	.;.	.;.	4.297766	0.65597	24.9	0.99740561205511624	0.83482	0.91769	0.54224	D	AEFDBCI	0.756550	0.69578	D	0.0180893088107864	0.42677	2.575993	0.0494384301167425	0.42046	2.536289	0.999999980949949	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.083000	0.70975	7.624000	0.62436	0.524000	0.24156	0.977000	0.34929	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.751	0.88344	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1898.33	127	chr9	91724254	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=1486;ExcessHet=0;FS=2.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.83;SOR=0.978	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1912,0,1467	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:355,164:565:99:437,0,5919	1	0	18	0
chr9	95447366	95447366	C	T	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon22:c.G3734A:p.R1245Q,PTCH1:NM_000264:exon23:c.G3890A:p.R1297Q,PTCH1:NM_001083602:exon23:c.G3692A:p.R1231Q,PTCH1:NM_001083603:exon23:c.G3887A:p.R1296Q,PTCH1:NM_001083604:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083605:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083606:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083607:exon23:c.G3437A:p.R1146Q	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	50101	Gorlin_syndrome|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0788025497676	.	.	8.556e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs386833412	5.271e-05	5.336e-05	3.95e-05	6.605e-05	0.0002	4.28e-05	3.955e-05	4.7e-05	4.282e-05	2.99e-05	0	0	0	0	0.0002	5.847e-05	6.626e-05	6.958e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.543e-05	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.543e-05	0	0	0	0	1.47e-05	0.0005	0	0.315	0.13971	T	0.041	0.52389	D	0.0	0.07471	B	0.0	0.04355	B	0.549354	0.11452	N	0.790412	0.954741	0.26358	N	-0.915	0.01320	N	-2.64	0.90210	D	-0.32	0.12283	N	0.147	0.16864	-0.6655	0.62031	T	0.432	0.77368	T	10	0.032107353	0.01357	T	0.078803	0.73088	D	0.162	0.41843	0.176	0.08257	0.512421693248	0.50881	0.22248716009403194	0.22163	0.0877359232739	0.09904	0.235143080354	0.02370	T	0.248003	0.61774	T	-0.253371	0.13687	T	-0.39622	0.33825	T	0.0579169997354487	0.06836	T	0.766923	0.39491	T	0.06759498	0.14652	0.033505064	0.02258	0.07287865	0.16245	0.036771815	0.03190	-3.744	0.19970	T	.	.	0.068	0.03698	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.520437	0.19520	14.30	0.99159320477193436	0.54043	0.02621	0.07205	N	AEFDBI	0.035765	0.04658	N	-1.054797881961	0.07493	0.348302	-0.998884236434481	0.09810	0.4902579	0.999943276459394	0.47345	0.722319	0.85440	0	0.708844	0.79440	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.64	0.467	0.15933	0.147000	0.16021	0.356000	0.17526	-0.198000	0.09030	0.013000	0.18845	0.026000	0.21063	0.546000	0.30079	0.0:0.3645:0.0:0.6355	6.793	0.22892	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	446.33	51	chr9	95447366	.	C	T	446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.554;DP=720;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.343;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,22:51:99:460,0,744	18	0	1	0
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.76	99	chr9	100442207	.	G	A	252.76	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.802;DP=1344;ExcessHet=0.119;FS=260.498;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.51;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,16:99:99:0|1:100442207_G_A:172,0,3058:100442207	12	0	2	5
chr9	101687005	101687005	C	T	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon2:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0310987573351	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs375779429	2.052e-05	2.052e-05	2.042e-05	2.063e-05	2.519e-05	1.456e-05	1.264e-05	1.543e-05	1.304e-05	0	2.236e-05	0	2.519e-05	0	0	2.248e-05	3.311e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.821	0.02951	T	0.523	0.10354	T	0.001	0.07471	B	0.0	0.01387	B	0.201160	0.16597	N	0.625388	0.999986	0.18198	N	0.205	0.09354	N	-2.16	0.86549	D	0.25	0.04456	N	0.056	0.02759	-0.8543	0.51668	T	0.325	0.69350	T	10	0.05905348	0.07038	T	0.031099	0.53261	D	0.151	0.39764	0.449	0.50957	0.570510961217	0.56716	0.4252962968889608	0.42446	0.119995550461	0.13513	0.249031424522	0.03666	T	0.024573	0.18544	T	-0.310034	0.07745	T	-0.513991	0.20907	T	0.0144451577537581	0.00292	T	0.673733	0.28234	T	0.031390455	0.02970	0.04814477	0.07087	0.031390455	0.02969	0.04814477	0.07087	-2.921	0.09355	T	.	.	0.064	0.01692	B	.	.	0.514050	0.08831	5.607	0.39115173146473792	0.02679	0.05876	0.11824	N	AEFI	0.052981	0.09506	N	-1.02664660271501	0.08054	0.3762815	-0.957354251568181	0.10752	0.543593	1.17202034090743E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	-0.00495	0.13342	0.031000	0.13598	-0.560000	0.08482	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.973000	0.55318	0.0:0.6671:0.0:0.3329	10.482	0.43885	893	0.26510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2295.33	174	chr9	101687005	.	C	T	2295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1137;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.059;SOR=0.569	GT:AD:DP:GQ:PL	0/1:88,86:174:99:2309,0,2153	18	0	1	0
chr9	104505139	104505139	C	T	exonic	OR13F1	.	nonsynonymous SNV	OR13F1:NM_001004485:exon1:c.C877T:p.R293W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0215361951138	0.0006	0.000399361	0.0007	0.0003	0.0009	0	0.0002	0.0009	0	0.0005	0.0006209	96	154602	rs7858601	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0007	0	0	1.872e-05	0.0002	0.0013	0.0008	0.0004	0.0007	0.0007	0.0006	0.0008	0.0011	0.0006	0.0005	0.0009	0.0009	0.0003	0	0.0007	0	0	0	0.0034	0.0011	0.0019	0	0.0	0.91255	D	0.0	0.92824	D	0.746	0.43152	P	0.176	0.35644	B	0.008248	0.30938	N	0.137977	0.894193	0.27825	N	3.655	0.94224	H	1.01	0.41058	T	-7.04	0.93833	D	0.305	0.34444	-0.9685	0.37510	T	0.095	0.35924	T	10	0.051144093	0.04951	T	0.021536	0.44322	T	0.238	0.54217	.	.	0.563764762904	0.56040	0.46101114426472356	0.46019	0.0361862173451	0.03821	0.183816432953	0.00134	T	0.015665	0.13095	T	-0.233937	0.16132	T	-0.159251	0.58420	T	0.150863392014762	0.17172	T	0.909109	0.67839	D	0.6820527	0.77080	0.69702595	0.82158	0.6820527	0.77081	0.69702595	0.82159	-9.934	0.73516	D	.	.	0.125	0.26294	B	.	.	1.642467	0.20964	14.99	0.97592789339742159	0.34803	0.27258	0.23226	N	AEFI	0.393061	0.47086	N	-0.39663860803877	0.25589	1.390164	-0.498262819328438	0.22202	1.20473	1.32984145786833E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.3	-1.02	0.09618	-0.221000	0.09208	-14.875000	0.00382	-1.897000	0.00527	0.002000	0.15269	0.000000	0.08366	0.841000	0.39698	0.551:0.281:0.0:0.168	5.212	0.14645	596	0.68392	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1134.33	99	chr9	104505139	.	C	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=815;ExcessHet=0;FS=2.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.025;SOR=1.003	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1148,0,1274	18	0	1	0
chr9	104598659	104598659	C	T	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.G755A:p.C252Y	.	.	.	.	.	.	.	.	.	.	.	2755011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.00246994611369	.	.	1.649e-05	9.612e-05	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs776259909	9.578e-06	2.121e-05	6.807e-06	1.238e-05	7.561e-05	5.56e-06	4.35e-06	2.005e-05	1.055e-05	5.977e-05	0	0	7.561e-05	0	0	0	0.0001	0	5.917e-05	9.195e-05	0.0001	1.346e-05	0.0004	3.079e-05	2.211e-05	7.895e-05	5.59e-05	0.0002	0	0	0	0.0004	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	0.405737	0.13064	N	0.569118	0.996682	0.22936	N	-3.25	0.00007	N	1.47	0.31987	T	8.63	0.00001	N	0.08	0.05542	-0.9633	0.38547	T	0.009	0.03271	T	10	0.019755512	0.00445	T	0.00247	0.04896	T	0.080	0.23350	0.464	0.53404	0.110392049598	0.10638	0.2437500228943448	0.24289	0.349418471386	0.36798	0.216627031565	0.01124	T	9.28E-4	0.00478	T	-0.290003	0.09636	T	-0.654346	0.08653	T	0.0545333138013981	0.06279	T	0.739426	0.35812	T	0.12779325	0.29895	0.13091049	0.31446	0.12779325	0.29895	0.13091049	0.31445	2.764	0.00026	T	.	.	0.065	0.01986	B	.	.	0.468673	0.08381	5.136	0.25648382125411601	0.01192	0.01710	0.05428	N	AEFI	0.027997	0.02386	N	-1.55052952819888	0.01531	0.06687869	-1.3156076336258	0.04228	0.198993	3.05492226442027E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	2.8	0.31881	0.303000	0.18965	0.499000	0.18978	-1.828000	0.00593	0.041000	0.21027	0.049000	0.21787	0.053000	0.15439	0.1986:0.1108:0.0:0.6906	3.393	0.06872	892	0.26670	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2892.33	210	chr9	104598659	.	C	T	2892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.206;DP=1920;ExcessHet=0;FS=6.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.984;SOR=0.387	GT:AD:DP:GQ:PL	0/1:106,104:210:99:2906,0,3041	18	0	1	0
chr9	110435253	110435253	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon29:c.A4876G:p.I1626V	.	433	1077	12	0	0	12	0.00554017	.	.	.	2840705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.191	0.00882891341451	0.0003	0.000399361	0.0008	0.0001	0.0024	0	0	0.0004	0.0011	0.0027	0.0006727	104	154602	rs151157223	0.0004	0.0004	0.0003	0.0005	0.0071	0.0004	0.0004	0.0054	0.0048	0.0001	0.0015	0.0004	0	0	0.0071	0.0002	0.0006	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	2.406e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0012	.	.	.	0.01	0.72224	D	0.008	0.14655	B	0.004	0.10090	B	0.000956	0.40932	D	0.272836	0.999262	0.21918	N	2.425	0.70256	M	.	.	.	.	.	.	0.394	0.43514	-0.7437	0.58262	T	0.288	0.65968	T	10	0.014389187	0.00303	T	0.008829	0.23294	T	0.191	0.46948	.	.	0.043077524339	0.03247	0.37065302493303626	0.36979	0.0895599370888	0.10117	0.381764382124	0.22507	T	0.007873	0.07247	T	-0.47024	0.00847	T	-0.45317	0.27346	T	0.0420534697939547	0.04064	T	0.581242	0.21054	T	0.04798732	0.08291	0.051949628	0.08465	0.04798732	0.08291	0.051949628	0.08464	-2.368	0.04940	T	.	.	0.071	0.04041	B	.;.	.;.	2.181266	0.27801	17.59	0.3837102778993291	0.02584	0.94314	0.60772	D	AEFBI	0.628681	0.61068	D	-0.218249766730362	0.32385	1.825823	-0.0767232625415517	0.36356	2.114654	0.10345070058072	0.16447	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	4.27	0.50009	4.267000	0.58676	1.270000	0.25285	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1313:0.0:0.0:0.8687	11.828	0.51552	974	0.05496	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.023392	0.000000	0.017241	0.003049	0.003788	0.02632	2811.33	210	chr9	110435253	.	T	C	2811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.908;SOR=0.716	GT:AD:DP:GQ:PL	0/1:95,115:210:99:2825,0,2103	18	0	1	0
chr9	114250657	114250657	G	A	exonic	COL27A1	.	nonsynonymous SNV	COL27A1:NM_032888:exon25:c.G3022A:p.V1008M	.	421	1099	2	0	0	2	0.000909091	.	.	.	1075885	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.0609858783228	0.0002	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs139143802	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	8.972e-05	6.716e-05	3.838e-05	0	3.747e-05	0.0007	0.0001	0.0003	2.319e-05	0.0001	0.0001	8.991e-05	0.0001	0.0002	6.51e-05	5.322e-05	7.908e-05	5.994e-05	0.0001	0	0	0	0.0002	0	0	0.0001	0	0	0.164	0.23360	T	0.131	0.34596	T	0.016	0.17332	B	0.007	0.12992	B	.	.	.	.	0.999229	0.21485	N	0.725	0.18768	N	-3.26	0.93587	D	-0.79	0.21860	N	0.22	0.24634	-0.3652	0.73108	T	0.599	0.85735	D	9	0.12942529	0.24626	T	0.060986	0.68182	D	0.162	0.41843	.	.	0.392737583364	0.38890	0.5475115561701354	0.54677	0.240987471406	0.26633	0.330290496349	0.14978	T	0.005404	0.04851	T	-0.27777	0.10906	T	-0.304709	0.44226	T	0.02706746943295	0.01553	T	0.773923	0.40554	T	0.035681944	0.04245	0.069743775	0.14734	0.035681944	0.04245	0.069743775	0.14734	-3.882	0.22032	T	0.20173115569304112	0.26809	0.082	0.08657	B	.	.	1.558274	0.19961	14.52	0.96851164973279791	0.31342	0.26049	0.22880	N	AEFBCIJ	0.066396	0.12999	N	-0.589057811973745	0.19275	1.007566	-0.499793484160311	0.22160	1.202265	0.999601479230614	0.40866	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.26	-0.597	0.11069	0.126000	0.15597	-1.205000	0.06030	0.676000	0.76740	0.815000	0.29920	0.000000	0.08366	0.995000	0.73285	0.3917:0.0:0.6083:0.0	9.283	0.36902	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1434.33	117	chr9	114250657	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=760;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.592;SOR=0.536	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1448,0,1348	18	0	1	0
chr9	114324867	114324867	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon4:c.G406A:p.D136N	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00368741063697	.	.	8.241e-05	0	0.0003	0	0	2.998e-05	0.0011	0.0002	6.47e-05	10	154602	rs199956795	7.114e-05	7.388e-05	6.534e-05	7.701e-05	0.0003	5.98e-05	5.588e-05	0.0002	0.0002	0	0.0003	0	7.557e-05	0	0.0003	5.306e-05	0.0002	0.0002	2.629e-05	3.94e-05	2.569e-05	2.691e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.011	0.55530	D	0.098	0.39040	T	.	.	.	.	.	.	0.001604	0.38497	N	0.246842	1	0.08975	N	.	.	.	2.88	0.10291	T	-2.88	0.60507	D	0.409	0.44952	-1.0691	0.09612	T	0.034	0.14813	T	10	0.17609635	0.32576	T	0.003687	0.08527	T	0.070	0.20419	0.522	0.62518	0.292062946507	0.28806	0.22076113994750426	0.21991	0.0581924861379	0.06448	0.317113995552	0.12983	T	.	.	.	-0.514522	0.00473	T	-0.67513	0.07284	T	0.218265935778618	0.21377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14015	B	.	.	3.181776	0.43193	21.7	0.99627168482585637	0.75776	0.11231	0.16496	N	AEFDBCI	0.359748	0.44996	N	-0.254715290732008	0.30915	1.728414	-0.431315315953245	0.24084	1.316872	0.9999946778494	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.24	3.29	0.36801	1.208000	0.31950	4.723000	0.44515	0.508000	0.23123	0.073000	0.22155	1.000000	0.68203	0.103000	0.18424	0.1404:0.0:0.8596:0.0	7.429	0.26286	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1803.33	149	chr9	114324867	.	G	A	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=766;ExcessHet=0;FS=5.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0.98;QD=12.1;ReadPosRankSum=0.707;SOR=0.916	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1817,0,1751	18	0	1	0
chr9	114337073	114337073	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon21:c.G3944A:p.R1315Q,AKNA:NM_001317950:exon22:c.G4301A:p.R1434Q,AKNA:NM_030767:exon22:c.G4301A:p.R1434Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0550867536425	.	0.000199681	0.0005	0.0010	0	0	0	0.0006	0	0.0002	9.7e-05	15	154602	rs568398137	7.907e-05	7.935e-05	6.97e-05	8.863e-05	8.945e-05	6.706e-05	6.24e-05	7.483e-05	6.955e-05	0	7.726e-05	0	0	6.391e-05	0	8.945e-05	7.021e-05	5.044e-05	8.555e-05	8.532e-05	7.725e-05	9.422e-05	0.0002	4.964e-05	3.968e-05	5.851e-05	4.246e-05	9.647e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.949	0.56973	P	0.358	0.45392	B	.	.	.	.	0.999385	0.21275	N	2.295	0.65404	M	2.1	0.38236	T	-1.81	0.62747	N	0.321	0.47949	-1.0671	0.10062	T	0.073	0.29451	T	9	0.08497056	0.14297	T	0.055087	0.66101	D	0.116	0.32463	.	.	0.722108883045	0.71965	0.14200489681460274	0.14123	0.33842455058	0.35812	0.406647890806	0.25993	T	0.052595	0.29206	T	-0.147974	0.28628	T	-0.170896	0.57362	T	0.142778977751732	0.16512	T	0.780422	0.41514	T	0.16645344	0.36982	0.19255292	0.42775	0.16645344	0.36981	0.19255292	0.42774	-3.691	0.23458	T	.	.	0.094	0.25100	B	.;.;.;.;.	.;.;.;.;.	4.218877	0.63791	24.6	0.99914544621677392	0.98309	0.78685	0.38858	D	AEFBCI	0.177778	0.30503	N	0.0147810520345228	0.42528	2.564053	-0.0149749768244309	0.39039	2.308672	0.99827121535837	0.36679	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.26	3.43	0.38372	3.059000	0.49640	2.597000	0.33501	0.599000	0.40250	0.761000	0.29254	0.964000	0.29435	0.762000	0.36218	0.0:0.8166:0.0:0.1834	8.189	0.30518	641	0.64016	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002053	0.000000	0.004110	0.002959	0.000000	0.000000	0.003205	0.000000	0.02632	532.33	35	chr9	114337073	.	C	T	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.319;DP=603;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.317;SOR=0.191	GT:AD:DP:GQ:PL	0/1:15,20:35:99:546,0,449	18	0	1	0
chr9	114356021	114356021	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon13:c.C2605T:p.R869W,AKNA:NM_001317950:exon14:c.C2962T:p.R988W,AKNA:NM_030767:exon14:c.C2962T:p.R988W	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0104524498469	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763765580	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	2.236e-05	0	0	0	0	4.496e-06	0	1.159e-05	6.573e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.022	0.65728	D	1.0	0.90584	D	0.995	0.88582	D	0.000592	0.43095	D	0.103999	0.575197	0.31145	N	1.87	0.49600	L	2.49	0.17271	T	-4.45	0.77717	D	0.424	0.48411	-1.1162	0.02587	T	0.070	0.28740	T	10	0.3446837	0.51456	T	0.010452	0.27001	T	0.170	0.43303	0.254	0.19378	0.755148097852	0.75293	0.3339354947669656	0.33306	0.408458707236	0.41687	0.396902084351	0.24638	T	0.106675	0.41822	T	-0.107988	0.35101	T	-0.29604	0.45141	T	0.970694839954376	0.69042	D	0.89861	0.64536	D	0.08378527	0.19362	0.09296392	0.21935	0.08378527	0.19362	0.09296392	0.21934	-5.627	0.43246	T	.	.	0.152	0.33619	B	.;.;.;.	.;.;.;.	3.116213	0.42050	21.5	0.9975699176319619	0.84772	0.35854	0.25398	N	AEFBCI	0.154124	0.27910	N	-0.0706867474069598	0.38682	2.269361	-0.181101149509994	0.32231	1.831716	0.999965647813168	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	1.58	0.22557	0.438000	0.21277	1.417000	0.26331	-0.140000	0.12423	0.885000	0.31090	1.000000	0.68203	0.011000	0.09372	0.0:0.102:0.3951:0.5029	5.091	0.14042	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	.	.	.	.	.	.	.	.	0.02632	1460.33	116	chr9	114356021	.	G	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=749;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.561;SOR=0.765	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1474,0,1356	18	0	1	0
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.02632	2715.33	187	chr9	114504573	.	T	A	2715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=909;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.143;SOR=0.772	GT:AD:DP:GQ:PL	0/1:78,109:187:99:2729,0,2011	18	0	1	0
chr9	120713769	120713769	G	A	exonic	MEGF9	.	nonsynonymous SNV	MEGF9:NM_001080497:exon1:c.C590T:p.S197L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0129696722377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.238	0.24549	T	0.288	0.32258	B	0.024	0.20255	B	0.517580	0.05183	N	1.308480	0.997269	0.22728	N	0.345	0.11182	N	2.2	0.18570	T	0.02	0.06739	N	0.05	0.02179	-1.0448	0.15884	T	0.043	0.18285	T	10	0.060022116	0.07306	T	0.01297	0.31999	T	0.050	0.13987	.	.	0.043077524339	0.03247	0.19534230288547516	0.19451	.	.	0.422787129879	0.28220	T	0.007985	0.07355	T	-0.287348	0.09903	T	-0.650532	0.08916	T	0.194180928521658	0.20088	T	0.514049	0.16524	T	0.12397682	0.29098	0.09159843	0.21544	0.12397682	0.29098	0.09159843	0.21543	-4.237	0.27284	T	.	.	0.071	0.03811	B	.	.	2.092112	0.26615	17.18	0.99611432435850134	0.74813	0.29328	0.23792	N	AEFDGBHCI	0.072543	0.14482	N	-0.50232871430772	0.22004	1.171919	-0.509913944747624	0.21884	1.185964	0.999999997254429	0.74766	0.65757	0.49021	0	0.435331	0.06439	0	0.608004	0.38603	0	0.604282	0.37693	0	.	.	3.44	3.44	0.38486	1.821000	0.38680	2.755000	0.34563	0.616000	0.49467	0.019000	0.19563	0.117000	0.22861	0.315000	0.24854	0.0:0.0:1.0:0.0	12.774	0.56816	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	.	.	.	.	.	.	.	.	0.02632	678.33	53	chr9	120713769	.	G	A	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=705;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.374;SOR=0.963	GT:AD:DP:GQ:PL	0/1:28,25:53:99:692,0,743	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,55:429:99:0|1:122724732_T_C:1095,0,15389:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,38:407:99:0|1:122724732_T_C:485,0,15367:122724732	4	0	12	3
chr9	128715382	128715382	A	G	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon15:c.A1730G:p.Q577R,PKN3:NM_013355:exon15:c.A1730G:p.Q577R	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0361082012297	.	.	8.284e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs749153614	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.994e-06	1.656e-05	1.159e-05	1.315e-05	1.313e-05	0	2.691e-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	0.001	0.78490	D	0.123	0.35582	T	0.994	0.66517	D	0.988	0.77976	D	.	.	.	.	1	0.81001	D	-0.015	0.05111	N	2.0	0.21473	T	-2.36	0.52128	N	0.557	0.58202	-0.8139	0.54312	T	0.046	0.19839	T	9	0.5757185	0.65568	D	0.036108	0.56779	D	0.382	0.69946	0.588	0.71623	0.162503812791	0.15892	0.4860375894707552	0.48523	0.977956703385	0.73625	0.466072708368	0.34142	T	0.32081	0.69196	T	-0.0738807	0.40705	T	-0.328415	0.41645	T	0.795515406149772	0.46052	D	0.845715	0.52486	T	0.49608994	0.66865	0.56297404	0.74710	0.49608994	0.66866	0.56297404	0.74711	-7.089	0.54681	T	.	.	0.112	0.22061	B	.	.	4.259162	0.64710	24.7	0.99869639454551884	0.94726	0.98775	0.86692	D	AEFGBI	0.898986	0.84287	D	0.438529073241514	0.63556	4.591526	0.54622196471287	0.71134	5.608901	0.999999991260841	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	8.866000	0.91909	11.115000	0.86412	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	14.045	0.64219	0	0.99858	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	80	chr9	128715382	.	A	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.281;DP=792;ExcessHet=0;FS=3.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.142;SOR=0.422	GT:AD:DP:GQ:PL	0/1:44,36:80:99:810,0,1158	18	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G,FIBCD1:NM_001145106:exon6:c.C907G:p.R303G	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	113	chr9	130911831	.	G	C	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.231;DP=848;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.969;SOR=0.628	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1242,0,1414	18	0	1	0
chr9	132402570	132402570	T	G	exonic	TTF1	.	nonsynonymous SNV	TTF1:NM_007344:exon2:c.A252C:p.K84N	.	430	1089	2	1	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0135143936976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.051	0.47828	T	0.994	0.66517	D	0.852	0.60758	P	0.001732	0.38161	N	0.117709	0.996665	0.22942	N	1.7	0.43825	L	2.17	0.19020	T	-1.37	0.33998	N	0.275	0.31140	-1.0766	0.08023	T	0.067	0.27399	T	10	0.2388328	0.41011	T	0.013514	0.32968	T	0.049	0.13647	0.166	0.07071	0.27132560031	0.26736	0.10376444171826926	0.10306	0.360806098794	0.37744	0.377824574709	0.21948	T	0.016569	0.13673	T	-0.230125	0.16634	T	-0.568335	0.15603	T	0.485940190889865	0.32115	T	0.756924	0.38041	T	0.08147025	0.18721	0.07214913	0.15532	0.08147025	0.18720	0.07214913	0.15531	-6.191	0.47850	T	.	.	0.514	0.65194	A	.	.	1.779305	0.22621	15.70	0.98420271085834909	0.41277	0.71461	0.35023	D	AEFDBI	0.115729	0.22743	N	-0.119198275264657	0.36556	2.114701	-0.273210851131215	0.28985	1.62032	0.999952627922581	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.2	1.34	0.21018	-0.020000	0.12466	0.118000	0.14877	0.660000	0.55035	0.937000	0.32526	0.016000	0.20520	0.169000	0.20946	0.0:0.1573:0.1649:0.6778	4.795	0.12634	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	115	chr9	132402570	.	T	G	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.663;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.493;SOR=0.636	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1367,0,1725	18	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	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,9:27:99:0|1:133208118_G_C:217,0,511:133208118	12	0	5	2
chr9	133463535	133463535	T	G	exonic	CACFD1	.	nonsynonymous SNV	CACFD1:NM_001135775:exon2:c.T174G:p.I58M,CACFD1:NM_001242369:exon2:c.T174G:p.I58M,CACFD1:NM_001242370:exon2:c.T174G:p.I58M,CACFD1:NM_017586:exon2:c.T174G:p.I58M	.	436	45	253	778	10	1819	0.952607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	.	0.00259585	0.0059	0.0013	0.0022	0	0.0148	0.0066	0.0066	0.0084	0.0001153	3	26028	rs3124765	0.0069	0.0069	0.0068	0.0070	0.0087	0.0068	0.0067	0.0082	0.0080	0.0012	0.0019	0.0028	0	0.0129	0.0050	0.0072	0.0067	0.0087	0.0053	0.0053	0.0048	0.0058	0.0079	0.0050	0.0049	0.0066	0.0064	0.0012	0.0033	0.0033	0.0023	0	0.0145	0.0340	0.0071	0.0057	0.0079	0.092	0.51248	T	0.308	0.47828	T	0.999	0.77913	D	0.996	0.84481	D	0.000006	0.62929	D	0.101533	0.0179067	0.39852	P	2.14	0.59869	M	0.63	0.88997	T	-1.44	0.46146	N	0.807	0.92084	0.251	0.86755	D	0.697	0.89561	D	9	0.056706637	0.06399	T	.	.	.	0.400	0.71401	.	.	0.285316908763	0.28143	0.8590021238515612	0.85863	0.562485881727	0.52722	0.563520610332	0.47765	T	0.07504	0.35083	T	-0.018878	0.49012	T	0.206221	0.83466	D	0.0508436183059116	0.05647	T	0.880812	0.74900	D	0.11979528	0.28200	0.14666119	0.34737	0.11979528	0.28200	0.14666119	0.34736	-4.443	0.36764	T	.	.	0.661	0.71374	P	.;.;.;.;.	.;.;.;.;.	0.703178	0.10722	7.411	0.9871455286076215	0.45113	0.14597	0.18486	N	AEFDGBCI	0.234158	0.35696	N	-0.888515522714864	0.11116	0.5346667	-1.0411234950966	0.08893	0.4395312	0.999687218535794	0.41756	0.651	0.46895	0	0.611049	0.52481	0	0.779548	0.98927	0	0.683762	0.67416	0	.	.	4.81	-2.59	0.05847	-2.293000	0.01226	-5.196000	0.01811	-2.098000	0.00395	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1614:0.4159:0.0:0.4227	6.727	0.22551	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	.	.	.	.	.	.	.	.	0.02632	48313.2	105	chr9	133463535	.	T	G	48313.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.942;DP=2088;ExcessHet=2.0135;FS=1.559;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.014;SOR=0.561	GT:AD:DP:GQ:PL	0/1:0,70:105:99:2904,1002,792	18	0	1	0
chr9	136290673	136290673	G	A	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001291516:exon6:c.C1646T:p.A549V,CCDC187:NM_001378188:exon6:c.C1940T:p.A647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055911967	5.28e-05	2.863e-05	7.413e-05	3.204e-05	0.0003	3.042e-05	2.466e-05	4.887e-05	2.011e-05	0.0003	0	0	4.369e-05	0	0	4.43e-05	0.0002	0	9.849e-05	9.843e-05	0.0001	9.402e-05	0.0002	6.002e-05	4.876e-05	7.872e-05	5.575e-05	0.0002	0	6.533e-05	0	0	0	0	0.0001	0	0	0.235	0.18000	T	0.198	0.28575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.24	0.31375	N	0.065	0.03956	.	.	.	.	.	.	.	0.07984996	0.12892	T	.	.	.	.	.	.	.	.	.	0.024849666436626127	0.02435	.	.	.	.	.	0.020624	0.16203	T	.	.	.	.	.	.	.	.	.	0.607939	0.22935	T	.	.	.	.	.	.	.	.	-10.281	0.75846	D	.	.	0.174	0.42650	B	.;.;.	.;.;.	1.292621	0.16934	12.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269000	0.18354	2.254000	0.31710	-0.129000	0.13216	0.000000	0.06391	0.037000	0.21475	0.008000	0.08271	.	.	.	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	154	chr9	136290673	.	G	A	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=797;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.397;SOR=0.631	GT:AD:DP:GQ:PL	0/1:67,87:154:99:2339,0,1440	18	0	1	0
chr9	137200294	137200294	A	G	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.T418C:p.F140L	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.37270849483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.87	0.03314	T	0.127	0.26966	B	0.041	0.23986	B	.	.	.	.	0.970235	0.27891	N	0.695	0.17993	N	.	.	.	-0.82	0.22508	N	0.079	0.05414	-1.0210	0.23389	T	0.044	0.19070	T	7	0.12753224	0.24254	T	0.372708	0.92785	D	0.015	0.02232	0.157	0.06070	0.0138822411134	0.00435	0.2401702424856078	0.23931	.	.	0.949860095978	0.99748	D	0.021338	0.16634	T	-0.0955393	0.37161	T	-0.375012	0.36305	T	0.125866546536816	0.14994	T	0.369563	0.08694	T	0.18029234	0.39142	0.12543239	0.30221	0.18029234	0.39142	0.12543239	0.30221	-5.455	0.41445	T	0.7052065062591604	0.78473	0.981	0.91282	P	.	.	2.773647	0.36418	20.2	0.63729978848142566	0.07301	0.04442	0.10042	N	AEFDBHCIJ	0.036408	0.04845	N	-0.973855968481935	0.09164	0.4326254	-1.00160250105221	0.09750	0.4869094	0.999999825594633	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	3.26	0.746	0.17514	1.292000	0.32948	10.180000	0.83233	-0.473000	0.05086	0.961000	0.33663	1.000000	0.68203	0.007000	0.07825	0.6017:0.0:0.1476:0.2507	2.213	0.03712	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	98.42	9	chr9	137200294	.	A	G	98.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.712;DP=217;ExcessHet=0;FS=0;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.936;SOR=0.495	GT:AD:DP:GQ:PL	0/1:5,4:9:99:112,0,154	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/1:43,26:69:99:883,0,1727	14	0	5	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:90,23:113:71:71,0,1561	2	0	17	0
chr10	15071877	15071877	G	C	exonic	OLAH	.	nonsynonymous SNV	OLAH:NM_001039702:exon7:c.G655C:p.A219P,OLAH:NM_018324:exon8:c.G814C:p.A272P	.	440	1057	24	1	0	26	0.0121495	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0063	0.00439297	0.0063	0.0010	0.0056	0	0.0008	0.0096	0.0099	0.0019	0.0061577	952	154602	rs141112464	0.0063	0.0063	0.0061	0.0064	0.0212	0.0062	0.0061	0.0182	0.0170	0.0015	0.0076	0.0210	0	0.0010	0.0212	0.0067	0.0077	0.0021	0.0060	0.0060	0.0061	0.0058	0.0111	0.0056	0.0055	0.0098	0.0092	0.0013	0.0208	0.0111	0.0190	0	9.422e-05	0.0340	0.0081	0.0113	0.0029	0.012	0.54683	D	0.017	0.60337	D	0.995	0.73220	D	0.929	0.70672	D	0.008927	0.30598	N	0.363254	0.999996	0.58761	D	3.31	0.90591	M	.	.	.	-3.4	0.67014	D	0.248	0.28498	-0.1361	0.79259	T	0.374	0.73265	T	9	0.015485346	0.00325	T	0.014474	0.34608	T	0.263	0.57612	.	.	0.112648838833	0.10856	0.6394832000678196	0.63883	0.047663189146	0.05203	0.328335881233	0.14683	T	0.08477	0.37353	T	-0.258417	0.13086	T	-0.13786	0.60303	T	0.0219837686994808	0.00907	T	0.449655	0.12671	T	0.8517653	0.87467	0.7689394	0.86355	0.8517653	0.87468	0.7689394	0.86356	-4.864	0.42036	T	.	.	0.318	0.63900	B	.;.	.;.	5.891225	0.93966	33	0.99790793454404803	0.87661	0.97458	0.74879	D	AEFBI	0.786843	0.71680	D	0.618762159074657	0.74362	6.119819	0.537302431636275	0.70519	5.517139	0.746926572213367	0.23299	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	4.79	4.79	0.60909	4.601000	0.60798	9.293000	0.79808	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	17.363	0.87246	889	0.27310	Thioesterase;.	.	.	.	.	.	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	0.025176	0.025253	0.027174	0.014620	0.000000	0.025862	0.036585	0.018939	0.05263	3692.83	135	chr10	15071877	.	G	C	3692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.053;DP=900;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.484;SOR=0.789	GT:AD:DP:GQ:PL	0/1:61,74:135:99:1673,0,1439	17	0	2	0
chr10	19066751	19066751	G	A	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon2:c.G232A:p.G78S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.247e-07	6.84e-07	0	1.959e-06	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.062	0.36912	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.59	0.01885	T	-3.32	0.66085	D	0.331	0.37197	.	.	.	.	.	.	.	0.24271408	0.41472	T	.	.	.	.	.	.	.	0.231231049324	0.22751	0.14955329656118266	0.14877	.	.	.	.	.	.	.	.	0.0057667	0.52448	T	-0.229493	0.51821	T	.	.	.	0.640736	0.25328	T	0.03725976	0.04742	0.15135995	0.35658	0.03725976	0.04742	0.15135995	0.35657	-5.935	0.45733	T	.	.	0.109	0.20896	B	.	.	2.537099	0.32816	19.15	0.58103983390699609	0.05917	0.43453	0.27101	N	AEFI	.	.	.	.	.	.	.	.	.	2.77146096047398E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.12451	0.25107	4.3	2.38	0.28415	1.382000	0.33980	7.048000	0.57361	0.614000	0.49286	0.993000	0.37899	1.000000	0.68203	0.477000	0.28498	0.214:0.0:0.786:0.0	7.130	0.24675	918	0.19598	MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1432.33	132	chr10	19066751	.	G	A	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=762;ExcessHet=0;FS=3.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.407;SOR=1.018	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1446,0,1737	18	0	1	0
chr10	37219162	37219162	A	-	exonic	ANKRD30A	.	frameshift deletion	ANKRD30A:NM_052997:exon34:c.3282delA:p.K1095Nfs*2	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.994e-05	0	8.706e-05	0	0	7.541e-05	0	0	3.88e-05	6	154602	rs760778504	8.635e-05	8.619e-05	8.319e-05	8.954e-05	0.0017	7.367e-05	6.915e-05	0.0009	0.0007	0	2.239e-05	0	0	0	0.0017	9.188e-05	0.0002	3.482e-05	7.937e-05	7.884e-05	9.057e-05	6.766e-05	4.451e-05	4.524e-05	3.534e-05	1.182e-05	6.28e-06	2.414e-05	0.0088	0	0	0	0	0	4.451e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2097.29	149	chr10	37219161	.	TA	T	2097.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=1093;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.832;SOR=0.832	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2111,0,2031	18	0	1	0
chr10	46011178	46011178	T	C	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.A743G:p.N248S,NCOA4:NM_001145263:exon8:c.A743G:p.N248S,NCOA4:NM_005437:exon8:c.A743G:p.N248S,NCOA4:NM_001145260:exon9:c.A791G:p.N264S,NCOA4:NM_001145261:exon9:c.A791G:p.N264S	.	9	1508	5	0	0	5	0.00165508	.	.	.	723952	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	0.00214094174632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs117257055	0.0025	0.0026	0.0025	0.0026	0.0148	0.0024	0.0024	0.0138	0.0134	0.0101	0.0113	7.999e-05	0.0148	0.0004	0.0020	0.0013	0.0048	0.0064	0.0051	0.0051	0.0052	0.0050	0.0210	0.0048	0.0047	0.0178	0.0166	0.0102	0	0.0069	0	0.0210	0.0002	0	0.0012	0.0033	0.0083	.	.	.	0.729	0.05506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	.	.	.	0.025	0.00717	.	.	.	.	.	.	.	0.0031405091	0.00052	T	.	.	.	.	.	.	.	.	.	0.07201057075622232	0.07138	.	.	.	.	.	0.030708	0.21706	T	.	.	.	.	.	.	.	.	.	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-2.326	0.04935	T	.	.	0.045	0.00050	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.513265	0.01825	0.144	.	.	.	.	.	.	0.098707	0.19884	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.113000	0.10745	-1.263000	0.05873	-0.854000	0.02687	0.285000	0.25187	0.000000	0.08366	0.930000	0.46718	.	.	.	545	0.72614	Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2456.33	221	chr10	46011178	.	T	C	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.075;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.573;SOR=0.723	GT:AD:DP:GQ:PL	0/1:117,104:221:99:2470,0,2836	18	0	1	0
chr10	46550639	46550639	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385276:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385282:exon3:c.G98A:p.R33Q,GPRIN2:NM_014696:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385277:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385278:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385279:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385280:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385281:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385283:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385287:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385289:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385300:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385291:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385293:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385294:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385295:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385296:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385301:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385297:exon6:c.G170A:p.R57Q,GPRIN2:NM_001385298:exon6:c.G170A:p.R57Q,GPRIN2:NM_001385299:exon6:c.G170A:p.R57Q	.	390	1124	8	0	0	8	0.0035461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00233379715657	.	.	.	.	.	.	.	.	.	.	.	.	.	rs151134434	0.0003	0.0006	0.0004	0.0003	0.0142	0.0003	0.0003	0.0117	0.0107	0.0004	0.0007	0.0018	2.565e-05	1.953e-05	0.0142	0.0002	0.0009	0.0002	0.0004	0.0006	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0007	0.0004	0	0.0012	0.0026	0.0002	0	0	0.0003	0.0009	0.0002	0.276	0.15717	T	0.377	0.16134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.91	0.03489	T	0.23	0.04613	N	0.068	0.04072	.	.	.	.	.	.	.	0.022905022	0.00584	T	.	.	.	.	.	.	.	.	.	0.11289606975502679	0.11217	.	.	.	.	.	5.61E-4	0.00225	T	.	.	.	.	.	.	.	.	.	0.478252	0.14398	T	.	.	.	.	.	.	.	.	-3.786	0.20595	T	.	.	0.073	0.04723	B	.;.	.;.	-0.643022	0.01458	0.089	.	.	.	.	.	.	0.034765	0.04364	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.129000	0.01400	-9.592000	0.00801	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.666000	0.33137	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	476.33	67	chr10	46550639	.	C	T	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1185;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=-0.785;SOR=0.944	GT:AD:DP:GQ:PL	0/1:46,21:67:99:490,0,1659	18	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	180.83	217	chr10	49933321	.	C	T	180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.89;DP=1610;ExcessHet=0.119;FS=52.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.83;MQRankSum=-8.132;QD=0.41;ReadPosRankSum=-0.383;SOR=6.923	GT:AD:DP:GQ:PL	0/1:194,23:217:60:60,0,5096	17	0	2	0
chr10	50104141	50104141	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1735A:p.E579K,WASHC2A:NM_001291398:exon18:c.G1735A:p.E579K,WASHC2A:NM_001330102:exon18:c.G1735A:p.E579K	.	.	.	.	.	.	.	.	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00806134122702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.019	0.59159	D	0.979	0.65571	D	0.547	0.62173	P	0.000196	0.48115	D	0.177367	0.999951	0.52396	D	.	.	.	.	.	.	-2.9	0.62343	D	0.284	0.38129	-0.5916	0.65157	T	0.295	0.66640	T	9	0.13366267	0.25440	T	0.008061	0.21368	T	0.136	0.36778	0.283	0.23961	0.043077524339	0.03247	0.08302946398203838	0.08237	.	.	0.596591353416	0.52423	T	0.224715	0.58924	T	0.031738	0.55955	T	-0.192187	0.55385	T	0.935279011726379	0.60337	D	0.80302	0.47137	T	0.33316985	0.55729	0.3041158	0.56441	0.33316985	0.55729	0.3041158	0.56440	-10.594	0.77386	D	.	.	0.244	0.48071	B	.;.;.;.;.	.;.;.;.;.	4.818866	0.78469	26.9	0.99814579360661781	0.89797	0.80605	0.40199	D	AEFI	0.261847	0.37971	N	0.0540664108470331	0.44330	2.709031	-0.0580937172112838	0.37142	2.170761	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	2082.42	133	chr10	50104141	.	G	A	2082.42	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.609;DP=1289;ExcessHet=6.9875;FS=179.254;InbreedingCoeff=-0.4806;MLEAC=1;MLEAF=0.033;MQ=56.33;MQRankSum=1.03;QD=2.48;ReadPosRankSum=1.49;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,30:133:99:0|1:50104141_G_A:101,0,3215:50104141	14	0	1	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,30:133:99:0|1:50104141_G_A:101,0,3215:50104141	11	0	6	2
chr10	60076361	60076361	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4520T:p.T1507I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0241909512726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.993	0.65571	D	0.738	0.55619	P	0.000573	0.43250	D	0.000000	0.998229	0.81001	D	1.7	0.43825	L	-0.23	0.66652	T	-1.94	0.45042	N	0.733	0.73375	-0.2689	0.75841	T	0.393	0.74619	T	10	0.7431318	0.75099	D	0.024191	0.47175	T	0.316	0.63799	0.361	0.36548	0.716686645318	0.71419	0.537031922882868	0.53628	0.634878381221	0.57326	0.682146191597	0.64577	T	0.290587	0.66336	T	0.153816	0.69625	D	-0.016831	0.69238	D	0.976152420043945	0.71252	D	0.927907	0.73422	D	0.3067246	0.53501	0.52223384	0.72397	0.3067246	0.53501	0.52223384	0.72398	-4.8	0.34591	T	0.1549353684652172	0.18537	0.208	0.43435	B	.	.	4.433577	0.68776	25.3	0.99871823505018165	0.94902	0.99083	0.90974	D	AEFDBI	0.923243	0.89941	D	0.803117354773635	0.86301	8.841422	0.838469583293644	0.92325	11.36168	0.999999999999681	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.201	0.98260	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1295.33	119	chr10	60076361	.	G	A	1295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=813;ExcessHet=0;FS=9.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.038;SOR=1.572	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1309,0,1730	18	0	1	0
chr10	70674918	70674918	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon2:c.C445T:p.R149W,ADAMTS14:NM_139155:exon2:c.C445T:p.R149W	.	431	1087	4	0	0	4	0.00183655	.	.	.	2813247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.00572245925553	0.0005	0.000399361	0.0003	0.0002	0	0	0	0.0005	0	0.0002	0.000304	47	154602	rs140711390	0.0006	0.0006	0.0005	0.0006	0.0006	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	5.038e-05	0	0.0005	0.0006	0.0005	0.0006	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0002	0	0	0	0	0	0.0034	0.0005	0.0005	0	0.195	0.20988	T	0.23	0.25135	T	0.005	0.12996	B	0.009	0.14300	B	0.698134	0.06186	N	1.168970	0.977922	0.25282	N	0.78	0.19475	N	3.31	0.06291	T	-1.64	0.40660	N	0.177	0.19055	-0.9541	0.40256	T	0.020	0.08546	T	10	0.019544393	0.00438	T	0.005722	0.14832	T	0.047	0.12962	.	.	0.424073947737	0.42026	0.4599688008951613	0.45914	0.177200247243	0.19938	0.191694825888	0.00256	T	0.060574	0.31422	T	-0.56675	0.00231	T	-0.68196	0.06864	T	0.00885453516623175	0.00110	T	0.367963	0.08605	T	0.14831461	0.33865	0.14957382	0.35310	0.14831461	0.33864	0.14957382	0.35309	-4.464	0.30770	T	.	.	0.067	0.02861	B	.;.	.;.	2.342885	0.30025	18.31	0.97447054117971577	0.34007	0.45009	0.27444	N	AEFDGBCI	0.491014	0.52825	N	-0.637704505091094	0.17820	0.9202293	-0.541199774793874	0.21040	1.136343	0.999999077669922	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.99	3.06	0.34374	1.724000	0.37685	0.570000	0.19597	-0.242000	0.07441	0.012000	0.18695	0.059000	0.21998	0.891000	0.42908	0.0:0.8124:0.0:0.1876	9.311	0.37069	306	0.87689	.;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1481.33	122	chr10	70674918	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.233;DP=765;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.1;SOR=0.513	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1495,0,1463	18	0	1	0
chr10	73427626	73427626	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon3:c.C364T:p.R122W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0767080318282	.	.	2.494e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs748982742	3.29e-05	3.557e-05	2.999e-05	3.584e-05	6.733e-05	2.548e-05	2.253e-05	2.918e-05	2.594e-05	0	6.733e-05	0	0	0	0	3.874e-05	1.66e-05	1.162e-05	5.915e-05	5.911e-05	5.14e-05	6.726e-05	4.828e-05	3.078e-05	2.211e-05	8e-06	2.99e-06	4.828e-05	0.0055	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000030	0.55875	D	0.116529	0.800	0.34501	D	.	.	.	0.72	0.50976	T	-4.1	0.74900	D	0.659	0.67650	-0.1968	0.77753	T	0.313	0.68291	T	10	0.47281873	0.59965	T	0.076708	0.72597	D	0.201	0.48592	0.426	0.47185	0.643648580697	0.64070	0.691261325677446	0.69066	0.57297603563	0.53367	0.516277730465	0.41103	T	0.157681	0.50038	T	-0.109419	0.34863	T	-0.197306	0.54902	T	0.93419086933136	0.60149	D	0.877312	0.59062	D	0.43326578	0.62965	0.37792215	0.62882	0.43326578	0.62966	0.37792215	0.62881	-5.467	0.41559	T	.	.	0.094	0.15115	B	.;.	.;.	4.954360	0.81862	27.6	0.9992173541712962	0.98787	0.96978	0.71989	D	AEFBI	0.710980	0.66457	D	0.828478055539266	0.87851	9.363298	0.80633093715838	0.90229	10.31361	0.0263061070855745	0.13704	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	5.93	0.95888	4.901000	0.62947	2.646000	0.33784	0.618000	0.50648	0.997000	0.40164	0.911000	0.28135	0.982000	0.59238	0.0:0.0:0.836:0.164	12.747	0.56664	824	0.40336	Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	107	chr10	73427626	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.127;DP=726;ExcessHet=0;FS=3.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.076;SOR=0.897	GT:AD:DP:GQ:PL	0/1:36,71:107:99:1629,0,708	18	0	1	0
chr10	80420537	80420537	G	A	exonic	PRXL2A	.	nonsynonymous SNV	PRXL2A:NM_001243778:exon2:c.G70A:p.A24T,PRXL2A:NM_001243779:exon2:c.G70A:p.A24T,PRXL2A:NM_001243780:exon2:c.G70A:p.A24T,PRXL2A:NM_001243781:exon2:c.G37A:p.A13T,PRXL2A:NM_001243782:exon2:c.G58A:p.A20T,PRXL2A:NM_032333:exon2:c.G70A:p.A24T	.	425	1094	3	0	0	3	0.00136924	.	.	.	3581779	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.00861644887506	.	.	4.948e-05	0	0	0	0	1.5e-05	0	0.0003	3.88e-05	6	154602	rs756747737	7.595e-05	7.593e-05	6.263e-05	8.94e-05	0.0006	6.425e-05	6.005e-05	0.0005	0.0004	0	0	0	0	0	0.0003	4.947e-05	4.967e-05	0.0006	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.011	0.64786	D	0.964	0.55854	D	0.634	0.51870	P	0.000002	0.62929	D	0.098411	0.99563	0.42782	D	.	.	.	.	.	.	-1.41	0.34795	N	0.46	0.49692	-0.2735	0.75717	T	0.349	0.71297	T	9	0.24491	0.41729	T	0.008616	0.22779	T	0.189	0.46613	0.419	0.46036	0.562540394707	0.55916	0.7828000908778107	0.78231	0.631368366302	0.57095	0.38729557395	0.23287	T	0.067886	0.33316	T	-0.179721	0.23777	T	-0.146502	0.59553	T	0.230335799973855	0.21967	T	0.834417	0.50357	T	0.22808868	0.45521	0.29694083	0.55727	0.22808868	0.45521	0.29694083	0.55727	-3.758	0.33002	T	.	.	0.136	0.41464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.762572	0.77010	26.6	0.99881568655988784	0.95733	0.99506	0.96851	D	AEFDBI	0.912905	0.87417	D	0.817535025588856	0.87189	9.133058	0.831805795000036	0.91908	11.13313	0.999998507827775	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	7.670000	0.82907	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.168	0.86702	941	0.13089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1882.33	147	chr10	80420537	.	G	A	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.917;DP=771;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.722;SOR=0.799	GT:AD:DP:GQ:PL	0/1:70,77:147:99:1896,0,1816	18	0	1	0
chr10	87180141	87180141	C	T	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377164:exon5:c.C1922T:p.A641V,SHLD2:NM_001377158:exon6:c.C2030T:p.A677V,SHLD2:NM_001377162:exon6:c.C2129T:p.A710V,SHLD2:NM_001377165:exon6:c.C1922T:p.A641V,SHLD2:NM_001377172:exon7:c.C983T:p.A328V,SHLD2:NM_019054:exon7:c.C2030T:p.A677V,SHLD2:NM_001330112:exon8:c.C2237T:p.A746V,SHLD2:NM_001377159:exon8:c.C2030T:p.A677V,SHLD2:NM_001377160:exon8:c.C2174T:p.A725V,SHLD2:NM_001377161:exon8:c.C2186T:p.A729V,SHLD2:NM_001377166:exon8:c.C1190T:p.A397V,SHLD2:NM_001377169:exon8:c.C1190T:p.A397V,SHLD2:NM_001377170:exon8:c.C833T:p.A278V,SHLD2:NM_001377167:exon9:c.C1190T:p.A397V,SHLD2:NM_001377168:exon9:c.C1190T:p.A397V,SHLD2:NM_001377171:exon9:c.C1286T:p.A429V	.	440	1062	20	0	0	20	0.00932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0003	0.0385383	0.0168	0.0006	0.0010	0.0493	0	0.0003	0.0099	0.0946	0.0149739	2315	154602	rs77534648	0.0072	0.0072	0.0047	0.0098	0.0936	0.0071	0.0071	0.0919	0.0912	0.0004	0.0003	0.0006	0.0421	0	0.0073	0.0002	0.0089	0.0936	0.0053	0.0053	0.0035	0.0072	0.1078	0.0050	0.0049	0.1001	0.0971	0.0005	0	0.0001	0.0009	0.0453	9.436e-05	0	0.0003	0.0014	0.1078	0.784	0.08042	T	0.996	0.02742	T	0.216	0.30161	B	0.014	0.16862	B	0.714174	0.09989	N	0.866184	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.96	0.25551	N	0.028	0.00618	-1.0686	0.09723	T	0.011	0.04321	T	10	0.0014247596	0.00015	T	.	.	.	0.042	0.11227	.	.	.	.	0.22500873290150492	0.22415	0.476320769534	0.46769	0.261501252651	0.05071	T	0.008864	0.08111	T	-0.525823	0.00407	T	-0.455126	0.27132	T	0.000788767114615013	0.00007	T	0.605339	0.22755	T	0.023288848	0.01056	0.029192142	0.01231	0.023288848	0.01055	0.029192142	0.01230	-2.61	0.25833	T	.	.	0.091	0.13268	B	.;.	.;.	0.506344	0.08752	5.528	0.45179393241677251	0.03527	0.00793	0.03241	N	AEFI	0.038141	0.05353	N	-1.46720333129378	0.02085	0.09170864	-1.46741997410701	0.02616	0.1206259	2.54830759139193E-5	0.03498	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.87	-3.05	0.05069	-0.016000	0.12550	-0.682000	0.07881	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.0:0.1741:0.165:0.6609	6.019	0.18845	908	0.22609	Protein FAM35A, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010404	0.000000	0.000000	0.026786	0.000000	0.000000	0.000000	0.034188	0.02632	1321.33	110	chr10	87180141	.	C	T	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=729;ExcessHet=0;FS=1.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.93;MQRankSum=0.481;QD=12.01;ReadPosRankSum=1.92;SOR=0.534	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1335,0,1305	18	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	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	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.05263	231.46	61	chr10	87232948	.	C	T	231.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.74;DP=821;ExcessHet=0.119;FS=58.684;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.053;MQ=32.07;MQRankSum=-2.052;QD=2.36;ReadPosRankSum=0;SOR=5.983	GT:AD:DP:GQ:PL	0/1:53,8:61:47:47,0,1416	17	0	2	0
chr10	91951543	91951543	G	T	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon5:c.G541T:p.A181S	.	421	1094	7	0	0	7	0.00318907	.	.	.	2451654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0305472226054	0.0015	0.00179712	0.0026	0.0002	0.0008	0	0.0017	0.0021	0	0.0092	0.0024126	373	154602	rs143465709	0.0024	0.0024	0.0022	0.0026	0.0092	0.0024	0.0023	0.0087	0.0085	0.0003	0.0009	0.0002	2.537e-05	0.0010	0.0033	0.0023	0.0020	0.0092	0.0017	0.0017	0.0015	0.0019	0.0093	0.0015	0.0015	0.0072	0.0064	0.0005	0	0.0017	0	0	0.0016	0.0102	0.0021	0.0014	0.0093	0.773	0.03354	T	0.813	0.03910	T	0.0	0.02946	B	0.001	0.04355	B	0.002717	0.36068	N	0.305782	0.988272	0.40734	D	-0.46	0.02758	N	-2.61	0.89953	D	0.2	0.04861	N	0.155	0.19459	-0.6629	0.62148	T	0.333	0.70043	T	10	0.003952384	0.00076	T	0.030547	0.52835	D	0.249	0.55752	.	.	0.43068463968	0.42687	0.1427154959639439	0.14194	0.440069081721	0.44022	0.42445987463	0.28450	T	0.065664	0.32747	T	-0.377247	0.03242	T	-0.308834	0.43785	T	0.0036264418587948	0.00038	T	0.773323	0.40460	T	0.050170317	0.09022	0.065170236	0.13171	0.050170317	0.09021	0.065170236	0.13171	-2.092	0.03550	T	.	.	0.070	0.03301	B	.;.	.;.	1.746527	0.22223	15.53	0.49164010667162972	0.04163	0.97342	0.74144	D	AEFGBI	0.293684	0.40425	N	-0.533136267924007	0.21015	1.112194	-0.321190887566464	0.27415	1.521081	0.0412145867519837	0.14474	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.09	0.47038	3.675000	0.54340	5.918000	0.51122	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0749:0.0:0.7839:0.1412	9.563	0.38543	919	0.19497	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	2131.83	120	chr10	91951543	.	G	T	2131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.629;DP=817;ExcessHet=0.119;FS=0.5;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.145;SOR=0.747	GT:AD:DP:GQ:PL	0/1:80,40:120:99:850,0,2104	17	0	2	0
chr10	93503332	93503332	G	A	exonic	CEP55	.	nonsynonymous SNV	CEP55:NM_001127182:exon3:c.G403A:p.A135T,CEP55:NM_018131:exon3:c.G403A:p.A135T	.	411	1108	3	0	0	3	0.00135196	.	.	.	2398568	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00251191504171	.	0.000599042	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001617	25	154602	rs561357549	5.336e-05	5.336e-05	2.722e-05	7.976e-05	0.0008	4.344e-05	4.017e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0.0001	0.0008	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.579	0.06011	T	0.38	0.15988	T	0.0	0.02946	B	0.001	0.04355	B	0.041093	0.23987	N	0.480369	1	0.08975	N	0.315	0.10303	N	2.21	0.18414	T	-0.01	0.07155	N	0.046	0.01825	-0.9799	0.35025	T	0.017	0.07140	T	10	0.0053614676	0.00118	T	0.002512	0.05009	T	0.016	0.02506	0.312	0.28612	0.128392430309	0.12331	0.053299315389546895	0.05271	0.13996330157	0.15771	0.281907200813	0.07760	T	0.001408	0.00865	T	-0.676103	0.00051	T	-0.8003	0.01895	T	0.00869942007596806	0.00107	T	0.630437	0.24556	T	0.021078454	0.00693	0.049378622	0.07532	0.021078454	0.00693	0.049378622	0.07532	-6.793	0.52507	T	.	.	0.070	0.03301	B	.	.	0.410424	0.07812	4.506	0.74262986396692254	0.10630	0.02807	0.07532	N	ALL	0.021527	0.00967	N	-1.48057386018797	0.01987	0.08728513	-1.47303037856035	0.02568	0.1183218	0.999999904004149	0.74766	0.706548	0.73137	0	0.504199	0.08210	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	-3.03	0.05100	0.371000	0.20182	0.395000	0.17934	-0.633000	0.04490	0.243000	0.24778	0.000000	0.08366	0.009000	0.08673	0.3977:0.0:0.6023:0.0	12.936	0.57712	368	0.84463	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1504.33	157	chr10	93503332	.	G	A	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.634;DP=904;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.33;SOR=0.679	GT:AD:DP:GQ:PL	0/1:87,70:157:99:1518,0,2141	18	0	1	0
chr10	94171195	94171195	C	A	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon3:c.C584A:p.P195H,PLCE1:NM_001288989:exon4:c.C1508A:p.P503H,PLCE1:NM_016341:exon4:c.C1508A:p.P503H	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0407177677718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.63918	D	0.343	0.33512	B	0.126	0.34292	B	0.000453	0.44317	D	0.194449	0.996419	0.23022	N	0	0.06538	N	-0.46	0.70014	T	-0.81	0.22294	N	0.238	0.26837	-0.9102	0.46830	T	0.156	0.48755	T	10	0.10823184	0.20139	T	0.040718	0.59531	D	0.109	0.30843	0.217	0.13788	0.798263818159	0.79638	0.23119947390241619	0.23034	0.134675723208	0.15172	0.256293177605	0.04459	T	0.107011	0.41884	T	-0.17624	0.24296	T	-0.490933	0.23293	T	0.841204404830933	0.49426	D	0.737326	0.35372	T	0.14294845	0.32875	0.117273234	0.28311	0.14294845	0.32875	0.117273234	0.28310	-4.218	0.29161	T	0.1523059261967281	0.18034	0.086	0.17103	B	.;.;.	.;.;.	1.908049	0.24231	16.32	0.9883673870529911	0.47052	0.80183	0.39889	D	AEFI	0.203411	0.32993	N	-0.345864238876128	0.27425	1.50452	-0.230359950459929	0.30453	1.714847	0.00101725068401374	0.08126	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	3.83	0.43287	0.641000	0.24411	-0.114000	0.11796	0.599000	0.40250	0.332000	0.25606	0.000000	0.08366	0.681000	0.33571	0.0:0.8077:0.1249:0.0674	11.587	0.50181	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	157	chr10	94171195	.	C	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=788;ExcessHet=0;FS=4.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.371;SOR=1.088	GT:AD:DP:GQ:PL	0/1:65,92:157:99:2429,0,1639	18	0	1	0
chr10	95394667	95394667	T	C	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001034954:exon13:c.A1304G:p.N435S,SORBS1:NM_001290298:exon13:c.A908G:p.N303S,SORBS1:NM_001384465:exon13:c.A908G:p.N303S,SORBS1:NM_001384459:exon14:c.A935G:p.N312S	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00659679840932	0.0033	0.00139776	0.0030	0.0007	0.0026	0	0.0012	0.0043	0.0033	0.0019	0.0029236	452	154602	rs147078270	0.0035	0.0036	0.0035	0.0035	0.0113	0.0034	0.0034	0.0091	0.0083	0.0003	0.0018	0.0117	0	0.0008	0.0113	0.0038	0.0032	0.0021	0.0026	0.0026	0.0028	0.0025	0.0040	0.0024	0.0023	0.0036	0.0034	0.0008	0	0.0022	0.0101	0	0.0004	0.0034	0.0040	0.0043	0.0023	0.173	0.22573	T	0.701	0.05707	T	0.002	0.09854	B	0.004	0.10090	B	0.000382	0.44960	D	0.000000	1	0.81001	D	1.39	0.34934	L	3.16	0.07711	T	-1.21	0.30762	N	0.125	0.21580	-0.9336	0.43605	T	0.011	0.03996	T	10	0.0046735406	0.00098	T	0.006597	0.17415	T	0.104	0.29647	.	.	0.374076547971	0.37021	0.19694114752873415	0.19611	0.149610788951	0.16869	0.348650872707	0.17724	T	0.115101	0.43343	T	-0.651914	0.00070	T	-0.706871	0.05458	T	0.0113779871061898	0.00170	T	0.838016	0.51077	T	0.05432028	0.10405	0.107875235	0.25976	0.05432028	0.10404	0.107875235	0.25975	-6.346	0.49086	T	.	.	0.111	0.22428	B	.;.	.;.	1.467754	0.18910	13.99	0.9284714388823081	0.22385	0.74518	0.36455	D	AEFDGBCIJ	0.315370	0.41996	N	-0.655626110128228	0.17297	0.888821	-0.454672349549036	0.23416	1.27689	0.999988455012172	0.51787	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.06	0.67	0.17092	1.404000	0.34232	.	.	0.665000	0.62972	1.000000	0.71638	0.909000	0.28100	1.000000	0.97212	0.0:0.2113:0.1197:0.669	6.401	0.20839	803	0.44167	SoHo domain;SoHo 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	0.009073	0.005051	0.009511	0.014620	0.000000	0.025862	0.003067	0.007576	0.02632	1051.33	96	chr10	95394667	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=721;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.53;SOR=0.784	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1065,0,1240	18	0	1	0
chr10	96386194	96386194	G	C	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon15:c.C1874G:p.T625S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0105672562207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.354	0.17268	T	0.042	0.21471	B	0.092	0.30031	B	0.000256	0.46924	D	0.000000	0.985936	0.40356	D	1.095	0.27400	L	2.1	0.19990	T	-1.65	0.39503	N	0.323	0.36359	-1.0910	0.05367	T	0.057	0.24055	T	10	0.24980503	0.42297	T	0.010567	0.27259	T	0.102	0.29158	0.695	0.83219	0.262175524916	0.25828	0.44130410539600634	0.44047	0.145945834864	0.16482	0.626796960831	0.56691	T	0.034197	0.23226	T	-0.276098	0.11085	T	-0.634372	0.10084	T	0.69792503118515	0.40620	D	0.79912	0.44420	T	0.10695693	0.25292	0.15484564	0.36324	0.10695693	0.25291	0.15484564	0.36323	-5.867	0.45153	T	.	.	0.076	0.05756	B	.	.	2.837516	0.37425	20.5	0.98831202785233319	0.46952	0.97588	0.75737	D	AEFDBI	0.826771	0.74619	D	0.0118623277304357	0.42393	2.553514	0.150776523755911	0.47182	2.952371	0.160693407935063	0.17588	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.98	4.07	0.46726	5.677000	0.67810	8.553000	0.77536	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1425:0.8574:0.0	15.021	0.71291	530	0.73653	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1111.33	122	chr10	96386194	.	G	C	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.087;DP=753;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=1.46;SOR=0.981	GT:AD:DP:GQ:PL	0/1:73,49:122:99:1125,0,1855	18	0	1	0
chr10	98209092	98209092	T	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.T978G:p.S326R,R3HCC1L:NM_001351013:exon3:c.T978G:p.S326R,R3HCC1L:NM_001256620:exon4:c.T978G:p.S326R,R3HCC1L:NM_001351012:exon4:c.T978G:p.S326R,R3HCC1L:NM_001351017:exon4:c.T978G:p.S326R,R3HCC1L:NM_014472:exon4:c.T978G:p.S326R,R3HCC1L:NM_001256619:exon5:c.T978G:p.S326R,R3HCC1L:NM_001351015:exon5:c.T978G:p.S326R,R3HCC1L:NM_138469:exon5:c.T978G:p.S326R,R3HCC1L:NM_001351011:exon6:c.T978G:p.S326R,R3HCC1L:NM_001351014:exon6:c.T978G:p.S326R,R3HCC1L:NM_001351010:exon7:c.T978G:p.S326R	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0043429087227	0.0035	0.000998403	0.0033	0.0007	0.0026	0	0.0006	0.0052	0.0022	0.0007	0.0032018	495	154602	rs139345451	0.0042	0.0042	0.0043	0.0042	0.0050	0.0041	0.0041	0.0049	0.0049	0.0006	0.0032	0.0023	0	0.0009	0.0009	0.0050	0.0039	0.0008	0.0029	0.0029	0.0033	0.0024	0.0051	0.0026	0.0025	0.0042	0.0039	0.0009	0	0.0051	0.0012	0	0.0006	0.0034	0.0043	0.0047	0.0012	0.002	0.72154	D	0.118	0.39492	T	0.456	0.36269	P	0.053	0.25678	B	0.159702	0.17702	N	0.543980	1	0.20203	N	1.1	0.28011	L	3.21	0.07125	T	-0.77	0.21429	N	0.156	0.17553	-0.9779	0.35481	T	0.069	0.28313	T	9	0.005889237	0.00132	T	0.004343	0.10561	T	0.039	0.10176	0.213	0.13210	0.213573922156	0.20996	0.050919005853598535	0.05033	0.0207763156015	0.02049	0.372621655464	0.21207	T	0.003613	0.03020	T	-0.568683	0.00225	T	-0.587731	0.13863	T	0.0128816095111123	0.00221	T	0.69643	0.30590	T	0.06269144	0.13121	0.07832996	0.17535	0.06269144	0.13120	0.07832996	0.17535	-5.356	0.40494	T	.	.	0.234	0.57034	B	.;.;.;.	.;.;.;.	1.250015	0.16465	12.56	0.95126072196423184	0.26230	0.03014	0.07887	N	AEFDGBI	0.028605	0.02550	N	-0.781969025024232	0.13779	0.681354	-0.943933308972867	0.11064	0.5613749	0.99908465806493	0.38397	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.674467	0.66132	0	.	.	5.18	-4.4	0.03349	-0.009000	0.12703	0.917000	0.22674	0.665000	0.62972	0.105000	0.22895	0.770000	0.26692	0.111000	0.18785	0.0:0.1692:0.5515:0.2793	7.355	0.25887	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2961.33	210	chr10	98209092	.	T	G	2961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=908;ExcessHet=0;FS=4.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.102;SOR=1.004	GT:AD:DP:GQ:PL	0/1:107,103:210:99:2975,0,2937	18	0	1	0
chr10	98434018	98434018	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322480:exon5:c.C329T:p.P110L,HPS1:NM_001322481:exon5:c.C329T:p.P110L,HPS1:NM_001322482:exon5:c.C329T:p.P110L,HPS1:NM_001322483:exon5:c.C103T:p.R35C,HPS1:NM_001322484:exon5:c.C103T:p.R35C,HPS1:NM_001322485:exon5:c.C103T:p.R35C,HPS1:NM_000195:exon6:c.C472T:p.R158C,HPS1:NM_001322476:exon6:c.C472T:p.R158C,HPS1:NM_001322477:exon6:c.C472T:p.R158C,HPS1:NM_001322478:exon6:c.C472T:p.R158C,HPS1:NM_001322479:exon6:c.C472T:p.R158C,HPS1:NM_001322490:exon6:c.C472T:p.R158C,HPS1:NM_001322491:exon6:c.C472T:p.R158C,HPS1:NM_001322492:exon6:c.C472T:p.R158C,HPS1:NM_182639:exon6:c.C472T:p.R158C	Hermansky-Pudlak syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	175334	Hermansky-Pudlak_syndrome|not_specified	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0279844830945	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs727505003	3.555e-06	7.525e-06	2.809e-06	4.32e-06	3.114e-05	1.04e-06	7.6e-07	7.4e-07	2e-07	3.114e-05	2.733e-05	0	0	0	0	2.77e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.079	0.33753	T	0.149	0.38891	T	0.027	0.77913	B	0.024	0.63994	B	0.006221	0.32193	N	0.384490	0.996814	0.44980	D	1.545	0.39105	L	1.49	0.31470	T	-3.41	0.68651	D	0.331	0.51226	-0.9679	0.37632	T	0.136	0.45106	T	10	0.23036107	0.39986	T	0.027984	0.50729	D	0.047	0.12962	0.418	0.45873	0.419090007872	0.41522	0.22885341292917807	0.22800	0.710442060471	0.61682	0.260146856308	0.04907	T	0.393656	0.75300	T	-0.108446	0.35024	T	-0.393551	0.34135	T	0.955770790576935	0.64591	D	0.916908	0.70254	D	0.10663398	0.25214	0.08129059	0.18460	0.10663398	0.25214	0.08129059	0.18460	-8.488	0.65267	D	0.29433603664086594	0.39120	0.095	0.15206	B	.;.;.;.	.;.;.;.	4.324245	0.66207	24.9	0.99906456825850265	0.97726	0.97566	0.75590	D	AEFDBI	0.729076	0.67690	D	0.0494883277367126	0.44117	2.691796	0.136387742077769	0.46425	2.88868	0.947001190810767	0.27732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.16	4.24	0.49486	3.633000	0.54036	6.677000	0.56298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.1448:0.0:0.8552:0.0	12.172	0.53471	836	0.38045	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2070.33	207	chr10	98434018	.	G	A	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=984;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.665;SOR=0.591	GT:AD:DP:GQ:PL	0/1:118,89:207:99:2084,0,2810	18	0	1	0
chr10	113614942	113614942	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon27:c.G2975A:p.R992H,NRAP:NM_006175:exon27:c.G2978A:p.R993H,NRAP:NM_001261463:exon28:c.G3083A:p.R1028H,NRAP:NM_198060:exon28:c.G3083A:p.R1028H	.	405	1111	6	0	0	6	0.002693	.	.	.	2212354	Inborn_genetic_diseases|NRAP-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.00976952176891	7.7e-05	0.00179712	0.0008	0	0.0005	0.0001	0	0.0003	0.0011	0.0039	0.0006856	106	154602	rs200591335	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0032	0.0030	6.071e-05	0.0003	0.0007	0	0	0.0026	0.0002	0.0005	0.0035	0.0003	0.0003	0.0003	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	4.815e-05	0	0.0003	0.0014	0	0	0	0.0003	0.0009	0.0043	0.456	0.23541	T	0.095	0.39492	T	0.375	0.34209	B	0.076	0.28435	B	0.000345	0.45440	D	0.201393	1	0.81001	D	0.75	0.19020	N	2.52	0.16640	T	-0.34	0.12661	N	0.222	0.24883	-1.0231	0.22704	T	0.026	0.10998	T	10	0.012930155	0.00276	T	0.00977	0.25495	T	0.152	0.39956	.	.	0.384086055536	0.38021	0.34233363619510393	0.34146	0.105942432008	0.11982	0.548920571804	0.45706	T	0.008592	0.07877	T	-0.390313	0.02678	T	-0.334907	0.40919	T	0.0236437510889523	0.01101	T	0.921408	0.71494	D	0.0972468	0.22920	0.0797089	0.17967	0.0972468	0.22920	0.0797089	0.17967	-6.3	0.48722	T	.	.	0.096	0.17615	B	.;.;.;.	.;.;.;.	3.269928	0.44761	22.0	0.96113061550661771	0.28751	0.60914	0.31332	D	AEFGBI	0.378535	0.46189	N	-0.31421189489725	0.28608	1.579322	-0.152513864829307	0.33311	1.904201	0.999994709431649	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	1.405000	0.34243	5.996000	0.52409	0.599000	0.40250	0.278000	0.25122	1.000000	0.68203	0.826000	0.38927	0.0:1.0:0.0:0.0	19.083	0.93173	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.011765	0.000000	0.008621	0.000000	0.000000	0.05263	4870.83	254	chr10	113614942	.	C	T	4870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1078;ExcessHet=0.119;FS=2.445;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.545;SOR=0.871	GT:AD:DP:GQ:PL	0/1:142,112:254:99:2885,0,3312	17	0	2	0
chr10	120354721	120354721	G	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.C463T:p.P155S	Hypotrichosis 12, Autosomal dominant	336	1183	1	2	0	5	0.00210881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001358	21	154602	rs879592877	0.0022	0.0020	0.0023	0.0021	0.0057	0.0021	0.0020	0.0036	0.0030	0.0006	0.0005	0.0002	0	0.0008	0.0057	0.0032	0.0022	0.0001	0.0020	0.0020	0.0020	0.0020	0.0037	0.0018	0.0018	0.0033	0.0032	0.0007	0	0.0012	0	0	0.0003	0.0034	0.0037	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	96.35	8	chr10	120354721	.	G	A	96.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0282;MLEAC=1;MLEAF=0.026;MQ=48.22;MQRankSum=-1.242;QD=12.04;ReadPosRankSum=-0.545;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:94:110,0,94	18	0	1	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	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,46:168:99:0|1:124989533_G_A:1544,0,4865:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:141,33:174:99:553,0,4724	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:159,23:182:77:77,0,4258	4	0	10	5
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,25:222:99:0|1:124994577_C_A:315,0,8098:124994577	0	0	19	0
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M	.	430	1090	2	0	0	2	0.00091659	.	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1917.33	154	chr10	125859758	.	C	T	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=790;ExcessHet=0;FS=3.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.713;SOR=0.999	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1931,0,1988	18	0	1	0
chr11	801588	801590	AGG	-	exonic	PIDD1	.	nonframeshift deletion	PIDD1:NM_145886:exon8:c.1337_1339del:p.S446del,PIDD1:NM_145887:exon8:c.1337_1339del:p.S446del	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255101437	1.696e-05	1.642e-05	1.258e-05	2.144e-05	7.451e-05	1.147e-05	9.64e-06	3.172e-05	2.154e-05	0	0	0	0	0	0	1.378e-05	5.112e-05	7.451e-05	1.974e-05	1.97e-05	1.286e-05	2.695e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1678.29	77	chr11	801587	.	CAGG	C	1678.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=-0.072;SOR=0.718	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1692,0,1298	18	0	1	0
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	383.39	586	chr11	1017475	.	T	G	383.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=1;MLEAF=0.029;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/1:538,48:586:99:396,0,22446	16	0	1	2
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:381,74:571:99:.:.:2018,0,16032:.	9	0	9	1
chr11	1096958	1096958	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.33	35	chr11	1096958	.	A	C	187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.819;DP=1133;ExcessHet=0;FS=5.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.68;MQRankSum=-1.019;QD=5.35;ReadPosRankSum=0.957;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,9:35:99:1|0:1096897_A_G:201,0,943:1096897	18	0	1	0
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,12:75:96:.:.:96,0,1927:.	7	0	6	6
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	301.13	461	chr11	1098628	.	C	G	301.13	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.4;DP=4936;ExcessHet=0.3672;FS=5.27;InbreedingCoeff=-0.1157;MLEAC=3;MLEAF=0.088;MQ=49.5;MQRankSum=-3.884;QD=0.32;ReadPosRankSum=0.566;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:424,37:461:99:0|1:1098609_A_G:110,0,16593:1098609	14	0	3	2
chr11	1098950	1098950	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	797	724	1	0	0	1	0.000690131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs62637244	0.0201	0.0078	0.0200	0.0202	0.0382	0.0196	0.0194	0.0357	0.0347	0.0239	0.0175	0.0200	0.0228	0.0208	0.0066	0.0179	0.0231	0.0382	0.0062	0.0072	0.0058	0.0067	0.0090	0.0052	0.0048	0.0052	0.0042	0.0078	0.0114	0.0090	0.0025	0	0.0079	0	0.0057	0.0061	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	.	.	.	.	.	.	.	.	0.05882	894.4	88	chr11	1098950	.	A	C	894.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.381;DP=1359;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=29.37;MQRankSum=2.88;QD=7.45;ReadPosRankSum=0.383;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,16:88:99:0|1:1098950_A_C:361,0,2541:1098950	15	0	2	2
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	181.3	114	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	181.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.564;DP=1303;ExcessHet=0;FS=5.78;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=59.38;MQRankSum=-6.966;QD=1.59;ReadPosRankSum=0.145;SOR=1.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,12:114:99:0|1:1598173_A_AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG:195,0,4172:1598173	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,113:206:99:.:.:7883,3730,4542:.	8	2	9	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1245.14	135	chr11	4488904	.	C	T	1245.14	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.131;DP=1915;ExcessHet=11.1788;FS=183.82;InbreedingCoeff=-0.4989;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.31;SOR=12.726	GT:AD:DP:GQ:PL	0/1:87,25:135:51:134,0,1195	16	0	2	1
chr11	5610851	5610851	G	C	exonic	TRIM6	.	nonsynonymous SNV	TRIM6:NM_001198645:exon6:c.G451C:p.V151L,TRIM6:NM_001198644:exon7:c.G451C:p.V151L,TRIM6:NM_001003818:exon8:c.G1060C:p.V354L,TRIM6:NM_058166:exon8:c.G976C:p.V326L	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00824819211141	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs781452684	5.472e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	3.311e-05	1.159e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.258	0.17761	T	0.687	0.12246	T	0.006	0.22331	B	0.006	0.16460	B	.	.	.	.	1	0.81001	D	1.485	0.37223	L	3.58	0.04594	T	-1.08	0.34397	N	0.052	0.14905	-1.0128	0.26038	T	0.015	0.05994	T	9	0.08109194	0.13237	T	0.008248	0.21853	T	0.067	0.19503	0.417	0.45709	0.218112801441	0.21410	0.22555637940004175	0.22470	0.0481309773018	0.05251	.	.	.	0.003226	0.02626	T	-0.212058	0.19090	T	-0.445529	0.28191	T	0.0391084738075733	0.03530	T	0.384162	0.20051	T	0.062701	0.13124	0.078280844	0.17519	0.062701	0.13124	0.078280844	0.17519	-6.172	0.53676	T	.	.	0.176	0.41992	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.634742	0.34271	19.58	0.99358226345388967	0.60904	0.87450	0.46994	D	AEFBI	0.284059	0.39701	N	-0.386980023923736	0.25932	1.411449	-0.315990118416791	0.27583	1.531527	0.963922957124604	0.28724	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.2	2.34	0.28071	1.405000	0.34243	.	.	0.618000	0.50648	0.171000	0.23947	1.000000	0.68203	0.932000	0.46971	0.1971:0.0:0.8029:0.0	8.278	0.31041	840	0.37365	B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3500.33	247	chr11	5610851	.	G	C	3500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=1989;ExcessHet=0;FS=4.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.199;SOR=0.602	GT:AD:DP:GQ:PL	0/1:119,128:247:99:3514,0,2884	18	0	1	0
chr11	6498331	6498331	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon2:c.A116G:p.Q39R,DNHD1:NM_144666:exon3:c.A116G:p.Q39R	.	424	1089	8	1	0	10	0.00457038	.	.	.	713013	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0002	0.00399361	0.0020	0.0002	0.0022	0	0.0003	0.0008	0.0033	0.0093	0.0017982	278	154602	rs140872512	0.0014	0.0014	0.0012	0.0016	0.0076	0.0013	0.0013	0.0071	0.0069	0.0003	0.0027	0.0010	0	0.0003	0.0036	0.0010	0.0019	0.0076	0.0010	0.0010	0.0008	0.0011	0.0066	0.0008	0.0008	0.0048	0.0042	0.0002	0	0.0026	0.0003	0	0	0.0034	0.0009	0.0024	0.0066	0.538	0.09128	T	0.0	0.92824	D	0.004	0.12183	B	0.004	0.10090	B	0.015371	0.28265	N	0.251150	1	0.08975	N	1.04	0.26193	L	1.67	0.27331	T	-0.88	0.32185	N	0.105	0.20528	-1.0400	0.17313	T	0.034	0.14813	T	10	0.00371477	0.00069	T	.	.	.	0.043	0.11576	.	.	0.258283824007	0.25425	0.17349271139081857	0.17269	0.126673817958	0.14272	0.250474870205	0.03818	T	0.009248	0.08431	T	-0.609161	0.00128	T	-0.641538	0.09557	T	0.00466466240997347	0.00050	T	0.40366	0.10339	T	0.055514015	0.10798	0.062225383	0.12142	0.055514015	0.10797	0.062225383	0.12141	-3.246	0.13051	T	.	.	0.071	0.06896	B	.;.;.	.;.;.	0.635637	0.10040	6.792	0.97041448522657536	0.32113	0.14574	0.18475	N	AEFDBCIJ	0.038647	0.05500	N	-0.798425020604011	0.13352	0.6570904	-0.801763829627763	0.14453	0.755228	0.982952066627204	0.30481	0.632932	0.41330	0	0.577304	0.33150	0	0.601832	0.32385	0	0.491896	0.07777	0	.	.	5.18	2.85	0.32333	0.775000	0.26351	-0.267000	0.10379	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.8001:0.0:0.1999:0.0	6.125	0.19391	496	0.76301	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.05263	4449.83	203	chr11	6498331	.	A	G	4449.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=1123;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.98;SOR=0.638	GT:AD:DP:GQ:PL	0/1:100,103:203:99:2567,0,2735	17	0	2	0
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.05263	3188.83	128	chr11	6571721	.	T	C	3188.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=886;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.908;SOR=0.685	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1633,0,1876	17	0	2	0
chr11	6633550	6633550	T	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.A2317C:p.S773R	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00637290447137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	2.736e-06	1.379e-06	4.207e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.727e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.004	0.74150	D	0.0	0.02946	B	0.001	0.04355	B	0.065195	0.21899	N	0.388509	0.600237	0.30947	N	0.75	0.19020	N	0.73	0.50721	T	-1.54	0.37375	N	0.291	0.32921	-1.0202	0.23649	T	0.071	0.28969	T	10	0.11606255	0.21883	T	0.006373	0.16754	T	0.121	0.33580	0.513	0.61153	0.143184338766	0.13958	0.3658653595494536	0.36500	0.322906376399	0.34462	0.43632465601	0.30075	T	0.137501	0.47048	T	-0.117346	0.33559	T	-0.406336	0.32650	T	0.5878986120224	0.35924	D	0.680032	0.28847	T	0.28290436	0.51325	0.1584029	0.36993	0.28290436	0.51325	0.1584029	0.36992	-3.497	0.16389	T	.	.	0.179	0.38941	B	.	.	2.876999	0.38057	20.6	0.98116991345624571	0.38399	0.98077	0.79403	D	AEFDGBIJ	0.612606	0.60061	D	-0.231537252455909	0.31845	1.789863	-0.0091787975305978	0.39298	2.327984	0.999999991355948	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	5.527000	0.66837	1.998000	0.30109	0.665000	0.62972	1.000000	0.71638	0.994000	0.32194	0.987000	0.62547	0.0:0.0:0.0:1.0	12.577	0.55719	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1260.33	132	chr11	6633550	.	T	G	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=847;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.505;SOR=0.616	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1274,0,1857	18	0	1	0
chr11	10628756	10628756	G	A	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001098579:exon5:c.C620T:p.P207L,IRAG1:NM_001100163:exon6:c.C374T:p.P125L,IRAG1:NM_001206880:exon6:c.C647T:p.P216L,IRAG1:NM_130385:exon6:c.C647T:p.P216L	.	421	1097	4	0	0	4	0.00181984	.	.	.	3275208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00387089026223	0.0002	.	0.0006	0	0	0	0	0.0004	0.0040	0.0013	0.0001617	25	154602	rs373371120	0.0001	0.0001	6.569e-05	0.0001	0.0014	9.261e-05	8.719e-05	0.0007	0.0007	0	3.447e-05	4.222e-05	0	0	0.0014	5.365e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0008	9.737e-05	8.252e-05	0.0003	0.0002	0	0	0.0001	0	0	0	0	0.0002	0.0009	0.0008	0.001	0.78490	D	0.019	0.74150	D	.	.	.	.	.	.	0.220706	0.16145	N	0.640448	0.999997	0.19925	N	.	.	.	2.88	0.14907	T	-2.1	0.59389	N	0.153	0.16168	-1.0175	0.24528	T	0.033	0.14334	T	10	0.02473393	0.00691	T	0.003871	0.09086	T	0.015	0.02232	.	.	0.254761474806	0.25079	0.07647011370164773	0.07583	0.0792818033649	0.08917	0.33132404089	0.15134	T	0.116195	0.43536	T	-0.573566	0.00211	T	-0.637197	0.09875	T	0.0450291013039011	0.04608	T	0.719228	0.38541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03698	B	.;.;.;.	.;.;.;.	0.823767	0.11949	8.511	0.94720942963389509	0.25393	0.14718	0.18550	N	AEFDGBIJ	0.176360	0.30356	N	-0.948367259899022	0.09729	0.4617525	-0.993729012031938	0.09925	0.4967174	0.134056757399755	0.17147	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.7	0.396	0.15532	0.714000	0.25478	0.075000	0.14313	-0.113000	0.14837	0.023000	0.19925	0.001000	0.17328	0.009000	0.08673	0.2102:0.1274:0.5307:0.1317	2.503	0.04355	474	0.77851	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2553.81	81	chr11	10628756	.	G	A	2553.81	.	AC=2;AF=0.053;AN=38;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.53;SOR=1.193	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2581,243,0	18	1	0	0
chr11	16791144	16791144	T	C	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon20:c.A2801G:p.Q934R,PLEKHA7:NM_001329631:exon20:c.A2804G:p.Q935R,PLEKHA7:NM_175058:exon20:c.A2801G:p.Q934R	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0117028281059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.07870	T	0.601	0.07919	T	0.432	0.44643	B	0.093	0.36635	B	0.000092	0.51296	D	0.207171	1	0.81001	D	2.015	0.55033	M	2.11	0.19860	T	-1.11	0.31375	N	0.403	0.44379	-1.0325	0.19650	T	0.090	0.34518	T	10	0.12499377	0.23746	T	0.011703	0.29585	T	0.064	0.18567	0.115	0.02372	0.426318900417	0.42251	0.19556831310308695	0.19473	0.283258498893	0.30771	0.509121119976	0.40099	T	0.018716	0.17850	T	-0.204965	0.20091	T	-0.532194	0.19068	T	0.62830913066864	0.37548	D	0.908809	0.68863	D	0.1854901	0.39914	0.13378185	0.32073	0.1854901	0.39914	0.13378185	0.32072	-4.548	0.31512	T	.	.	0.104	0.23918	B	.;.;.	.;.;.	3.890776	0.56615	23.8	0.96378181731371027	0.29610	0.88036	0.47792	D	AEFDGBI	0.495930	0.53109	N	0.115395221370506	0.47181	2.947426	0.204981944535379	0.50125	3.20773	0.999993809460677	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.43	4.23	0.49319	3.767000	0.54998	5.202000	0.47936	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.2865:0.7135	12.629	0.56003	697	0.58201	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	282.33	62	chr11	16791144	.	T	C	282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.321;DP=729;ExcessHet=0;FS=10.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=-1.111;SOR=0.103	GT:AD:DP:GQ:PL	0/1:46,16:62:99:296,0,1443	18	0	1	0
chr11	17531234	17531234	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon4:c.C307T:p.R103C,USH1C:NM_005709:exon4:c.C307T:p.R103C,USH1C:NM_153676:exon4:c.C307T:p.R103C	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	57177	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.831	0.410997395953	.	0.00119808	0.0010	0	0	0	0	0	0	0.0073	0.0008603	133	154602	rs397517880	0.0006	0.0006	0.0004	0.0008	0.0078	0.0005	0.0005	0.0074	0.0072	5.974e-05	0	0	0	0	0.0002	0.0001	0.0005	0.0078	0.0002	0.0002	2.57e-05	0.0004	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	1.47e-05	0	0.0064	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	0.052082	1	0.81001	D	1.2	0.30300	L	1.64	0.27822	T	-7.38	0.95634	D	0.96	0.98368	-0.6886	0.60973	T	0.198	0.55329	T	10	0.022108346	0.00544	T	0.410997	0.93598	D	0.831	0.94653	0.781	0.90541	0.615802107288	0.61270	0.7661962857702276	0.76568	0.446580278172	0.44524	0.851669728756	0.89866	D	0.273201	0.64564	T	-0.120879	0.32980	T	0.0594204	0.74206	D	0.173738843397744	0.18831	T	0.970403	0.96942	D	0.91356033	0.92629	0.6833929	0.81388	0.8436937	0.86875	0.7175608	0.83328	-13.486	0.93156	D	.	.	0.770	0.77702	P	.;.;.;.;.	.;.;.;.;.	5.638769	0.92727	33	0.99931457419198078	0.99387	0.91951	0.54617	D	AEFDBI	0.889622	0.82387	D	0.572590149419844	0.71468	5.655404	0.489922481798543	0.67320	5.068336	0.999999564476807	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.39	4.45	0.53365	4.765000	0.61968	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6951:0.3049	12.412	0.54810	712	0.56465	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3037.33	263	chr11	17531234	.	G	A	3037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=933;ExcessHet=0;FS=4.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.125;SOR=0.714	GT:AD:DP:GQ:PL	0/1:138,125:263:99:3051,0,3499	18	0	1	0
chr11	46366381	46366383	CCT	-	exonic	DGKZ	.	nonframeshift deletion	DGKZ:NM_001105540:exon2:c.125_127del:p.S45del	.	413	1104	5	0	0	5	0.00225938	.	.	.	1630224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0045	.	0.0073	0.0016	0.0021	0	0.0389	0.0111	0	0.0004	0.0003842	10	26028	rs750005398	0.0053	0.0054	0.0054	0.0053	0.0055	0.0052	0.0052	0.0054	0.0054	0.0005	0.0008	0.0001	0.0002	0.0258	0.0008	0.0055	0.0048	0.0009	0.0056	0.0056	0.0050	0.0062	0.0070	0.0053	0.0051	0.0065	0.0063	0.0005	0	0.0032	0	0.0004	0.0276	0	0.0070	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000511	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.000000	0.02632	1620.29	68	chr11	46366380	.	GCCT	G	1620.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.83;ReadPosRankSum=-0.026;SOR=0.674	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1634,0,1000	18	0	1	0
chr11	47335928	47335928	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon25:c.G2686A:p.V896M	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	3	1507	12	0	0	12	0.00396563	.	.	.	51822	Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4|Cardiomyopathy|Left_ventricular_noncompaction_10|not_specified|not_provided|Cardiovascular_phenotype|MYBPC3-related_disorder	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0037	0.00159744	0.0128	0.0025	0.0032	0	0.0986	0.0183	0.0056	0.0007	0.0041332	639	154602	rs35078470	0.0055	0.0055	0.0055	0.0055	0.0056	0.0054	0.0054	0.0055	0.0054	0.0004	0.0006	0.0002	2.786e-05	0.0261	0.0009	0.0056	0.0050	0.0007	0.0057	0.0057	0.0052	0.0063	0.0074	0.0054	0.0053	0.0069	0.0066	0.0005	0	0.0032	0	0.0004	0.0271	0	0.0074	0.0033	0.0002	0.026	0.47320	D	0.069	0.44106	T	.	.	.	.	.	.	.	.	.	.	0.97131	0.25659	N	1.48	0.37141	L	0.38	0.57575	T	-1.81	0.42575	N	0.184	0.22098	-1.0226	0.22866	T	0.062	0.25815	T	9	0.008191198	0.00186	T	.	.	.	0.214	0.50650	.	.	0.652799619513	0.64990	0.3604967217639329	0.35963	0.231211013671	0.25664	0.452297091484	0.32258	T	0.149674	0.48879	T	-0.331359	0.06009	T	-0.239355	0.50861	T	0.0113753775464302	0.00169	T	0.872113	0.57861	D	0.20164938	0.42183	0.28305122	0.54296	0.21949111	0.44483	0.23648001	0.48920	-4.724	0.33693	T	0.4513158534412659	0.53507	0.182	0.50763	B	.;.;.	.;.;.	3.504028	0.49039	22.7	0.99387886465847319	0.62202	0.15740	0.19059	N	AEFDBCI	0.392910	0.47077	N	-0.512489298898595	0.21674	1.152055	-0.446536711630378	0.23647	1.290689	0.98932281013228	0.31789	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.35	2.21	0.27042	1.008000	0.29475	0.736000	0.21123	0.587000	0.30956	0.027000	0.20232	0.005000	0.19230	0.996000	0.76049	0.0:0.4777:0.1757:0.3466	4.094	0.09454	17	0.98681	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	.	.	.	.	rs35078470	Likely benign	0	0	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	0.001018	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007692	0.02632	958.33	59	chr11	47335928	.	C	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=720;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=1.27;SOR=0.502	GT:AD:DP:GQ:PL	0/1:24,35:59:99:972,0,541	18	0	1	0
chr11	48127939	48127939	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1253A:p.R418H,PTPRJ:NM_002843:exon7:c.G1253A:p.R418H	Colon cancer, somatic	0	1515	7	0	0	7	0.00230491	.	.	.	207866	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0048	0.00159744	0.0056	0.0012	0.0013	0	0.0302	0.0066	0.0099	0.0006	0.0052328	809	154602	rs61739179	0.0058	0.0058	0.0058	0.0058	0.0060	0.0057	0.0057	0.0059	0.0058	0.0007	0.0008	0.0002	2.519e-05	0.0265	0.0005	0.0060	0.0050	0.0008	0.0059	0.0059	0.0054	0.0064	0.0079	0.0056	0.0054	0.0073	0.0071	0.0007	0	0.0020	0	0.0004	0.0272	0.0034	0.0079	0.0024	0.0002	0.432	0.10311	T	0.201	0.27503	T	0.007	0.14184	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	0.42	0.56937	T	0.24	0.04776	N	0.057	0.03069	-1.0067	0.27943	T	0.055	0.23224	T	9	0.0035292208	0.00063	T	.	.	.	0.054	0.15330	.	.	0.227934060464	0.22382	0.17812311156083024	0.17731	0.285971366995	0.31006	0.189527139068	0.00217	T	0.059434	0.41065	T	-0.680901	0.00047	T	-0.740455	0.03871	T	0.00372451952340471	0.00039	T	0.30057	0.08365	T	0.014512716	0.00096	0.036567293	0.03131	0.016028756	0.00171	0.043514933	0.05431	-4.636	0.37420	T	.	.	0.073	0.08609	B	.;.;.;.	.;.;.;.	-1.914476	0.00123	0.002	0.80157116752360968	0.13071	0.00536	0.02476	N	AEFDGBI	0.027186	0.02178	N	-1.57496451654306	0.01394	0.0607787	-1.70867958946712	0.01099	0.04939891	0.999999996067313	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	-10.1	0.00330	-3.243000	0.00601	.	.	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2021:0.0:0.6663:0.1316	13.645	0.61750	137	0.94565	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;.	.	.	.	.	rs61739179	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3879.33	275	chr11	48127939	.	G	A	3879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=933;ExcessHet=0;FS=4.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.379;SOR=0.48	GT:AD:DP:GQ:PL	0/1:122,153:275:99:3893,0,2940	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,65:278:99:0|1:56375918_A_G:2077,0,8748:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,65:278:99:0|1:56375918_A_G:2077,0,8748:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,65:278:99:0|1:56375918_A_G:2077,0,8748:56375918	2	0	16	1
chr11	56542906	56542906	C	T	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.G352A:p.A118T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0108283742995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.967	0.56408	D	0.721	0.54900	P	.	.	.	.	0.826721	0.34856	D	3.515	0.92918	H	0.59	0.53943	T	-3.61	0.69477	D	0.51	0.54147	0.175	0.85484	D	0.385	0.74039	T	9	0.6584794	0.70013	D	0.010828	0.27810	T	0.280	0.59740	0.52	0.62217	0.814459675803	0.81271	0.1555907797195518	0.15480	0.115934735374	0.13078	0.351882100105	0.18198	T	0.009136	0.08339	T	0.0182086	0.54140	T	-0.211621	0.53540	T	0.987128376960754	0.77683	D	0.740726	0.35986	T	0.73345643	0.79919	0.7262741	0.83831	0.73345643	0.79921	0.7262741	0.83832	-9.298	0.69595	D	.	.	0.218	0.44784	B	.	.	4.117317	0.61514	24.3	0.99903937489450712	0.97502	0.92226	0.55227	D	AEFI	0.172576	0.29962	N	0.742111105244674	0.82390	7.750753	0.658315209290863	0.79229	7.038936	3.70771207495796E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	1.898000	0.39440	.	.	0.472000	0.21952	1.000000	0.71638	0.998000	0.33993	0.025000	0.12405	0.2787:0.7213:0.0:0.0	11.105	0.47418	294	0.88270	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2912.33	235	chr11	56542906	.	C	T	2912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=1587;ExcessHet=0;FS=1.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.109;SOR=0.593	GT:AD:DP:GQ:PL	0/1:125,110:235:99:2926,0,3588	18	0	1	0
chr11	58358241	58358241	T	C	exonic	OR5B17	.	nonsynonymous SNV	OR5B17:NM_001005489:exon1:c.A829G:p.T277A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000682861566516	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs766489079	2.669e-05	2.668e-05	2.451e-05	2.888e-05	3.509e-05	1.998e-05	1.754e-05	2.626e-05	2.306e-05	0	0	0	0	0	0	3.509e-05	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.142	0.25457	T	0.055	0.46862	T	0.04	0.21238	B	0.074	0.28220	B	0.001787	0.37998	U	0.000000	1	0.08975	N	2.22	0.62911	M	8.48	0.00215	T	-3.79	0.71639	D	0.106	0.09066	-0.9710	0.36988	T	0.001	0.00188	T	10	0.056564897	0.06361	T	6.83E-4	0.00400	T	0.035	0.08770	0.333	0.32005	0.0716867268079	0.06686	0.03207963855331097	0.03155	0.0101620633804	0.00935	0.159921199083	0.00010	T	0.018313	0.14784	T	-0.520199	0.00439	T	-0.804711	0.01787	T	0.0738341870224485	0.09179	T	0.580242	0.20999	T	0.1097917	0.25955	0.122031726	0.29438	0.1097917	0.25955	0.122031726	0.29438	-5.7	0.43694	T	.	.	0.077	0.06571	B	.	.	0.177004	0.05651	2.101	0.46574822848071051	0.03741	0.10930	0.16291	N	AEFI	0.105861	0.21139	N	-1.20030707093553	0.04997	0.226754	-1.28598258361526	0.04619	0.2183102	1.81588791561257E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.09	0.687	0.17184	-0.320000	0.08070	-5.642000	0.01646	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2133:0.0:0.7867	6.974	0.23844	259	0.89842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	241	chr11	58358241	.	T	C	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.128;DP=2284;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.115;SOR=0.722	GT:AD:DP:GQ:PL	0/1:134,107:241:99:2479,0,3396	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,27:112:99:0|1:61740527_G_C:388,0,2476:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,29:114:99:0|1:61740527_G_C:421,0,2470:61740527	2	0	17	0
chr11	62870838	62870838	-	TAATAA	splicing	SLC3A2	NM_002394:exon2:c.205+1->TAATAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1026	0.0714	0.1042	0.0778	.	0.1722	0.0690	0.0830	0.0001153	3	26028	rs770752670	0.0214	0.0077	0.0272	0.0190	0.0251	0.0203	0.0198	0.0192	0.0181	0.0050	0.0251	0.0487	0.0030	0.0409	0.0175	0.0197	0.0169	0.0220	0.0069	0.0082	0.0071	0.0066	0.0117	0.0065	0.0063	0.0101	0.0095	0.0022	0.0013	0.0117	0.0353	0.0018	0.0008	0.0120	0.0082	0.0108	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	721.18	1	chr11	62870838	.	G	GTAATAA	721.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.5;DP=82;ExcessHet=0.0004;FS=3.362;InbreedingCoeff=0.4716;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=-0.967;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,1:1:3:.:.:45,3,0:.	12	1	1	5
chr11	64224836	64224836	G	A	exonic	TRPT1	.	nonsynonymous SNV	TRPT1:NM_001160393:exon3:c.C292T:p.L98F,TRPT1:NM_001330298:exon3:c.C145T:p.L49F,TRPT1:NM_031472:exon3:c.C145T:p.L49F,TRPT1:NM_001033678:exon4:c.C292T:p.L98F,TRPT1:NM_001160389:exon4:c.C292T:p.L98F,TRPT1:NM_001160390:exon4:c.C292T:p.L98F,TRPT1:NM_001160392:exon4:c.C292T:p.L98F	.	413	1094	15	0	0	15	0.0068089	.	.	.	2237933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00788684099836	0.0003	0.000199681	0.0004	0	9.045e-05	0	0	0.0004	0	0.0011	0.0002911	45	154602	rs117480910	0.0003	0.0003	0.0002	0.0003	0.0031	0.0003	0.0003	0.0020	0.0017	0	0.0001	0	0	0	0.0031	0.0002	0.0004	0.0017	0.0002	0.0002	0.0003	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	4.81e-05	0.0011	0.0002	0	0.0002	0	0	0.0003	0.0009	0.0010	0.374	0.14843	T	0.687	0.06690	T	0.958	0.54977	D	0.718	0.54779	P	0.018879	0.27384	N	0.382752	0.819309	0.28903	N	2.245	0.63543	M	0.95	0.43279	T	-1.86	0.48354	N	0.133	0.17002	-1.0029	0.29080	T	0.121	0.42079	T	10	0.027083486	0.00861	T	0.007887	0.20929	T	0.071	0.20720	.	.	0.430579932962	0.42676	0.3781561179762319	0.37730	0.301910662644	0.32526	0.274642884731	0.06756	T	0.003618	0.19643	T	-0.516643	0.00460	T	-0.56045	0.16335	T	0.03813772814303	0.03355	T	0.756624	0.49916	T	0.15393844	0.34869	0.14237995	0.33874	0.15393844	0.34869	0.14237995	0.33873	-6.212	0.48020	T	.	.	0.094	0.29088	B	.;.;.;.;.;.	.;.;.;.;.;.	2.646220	0.34442	19.63	0.72942754221160955	0.10151	0.56974	0.30255	D	AEFDBHCI	0.170174	0.29706	N	-0.396142816090723	0.25606	1.391248	-0.417861661259169	0.24473	1.340321	0.999999845689017	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.645665	0.59343	0	.	.	4.74	2.73	0.31266	3.582000	0.53665	9.559000	0.80991	0.676000	0.76740	0.747000	0.29101	1.000000	0.68203	0.768000	0.36443	0.083:0.1394:0.7776:0.0	9.879	0.40389	658	0.62094	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3449.33	213	chr11	64224836	.	G	A	3449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=868;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.046;SOR=0.773	GT:AD:DP:GQ:PL	0/1:87,126:213:99:3463,0,2017	18	0	1	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1053	5064.43	113	chr11	64320780	.	G	T	5064.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.139;DP=910;ExcessHet=0.7564;FS=3.929;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.32;SOR=0.532	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1444,0,1439	15	0	4	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1053	2899.43	55	chr11	64349373	.	C	T	2899.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.802;DP=837;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.75;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,26:55:99:0|1:64349371_A_C:652,0,711:64349371	15	0	4	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:78,42:121:99:197,0,1126	9	0	8	2
chr11	67436137	67436137	C	T	exonic	PTPRCAP	.	nonsynonymous SNV	PTPRCAP:NM_005608:exon2:c.G217A:p.A73T	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0050	0.00199681	0.0100	0.0045	0.006	0.0004	0.0141	0.0164	0.0125	0.0015	0.0046183	714	154602	rs61731772	0.0083	0.0082	0.0085	0.0081	0.0099	0.0082	0.0081	0.0097	0.0097	0.0012	0.0037	0.0031	5.219e-05	0.0051	0.0011	0.0099	0.0068	0.0012	0.0056	0.0056	0.0061	0.0050	0.0090	0.0052	0.0051	0.0085	0.0082	0.0023	0	0.0033	0.0029	0	0.0050	0	0.0090	0.0061	0.0019	0.107	0.29554	T	0.486	0.11691	T	0.216	0.30161	B	0.014	0.16862	B	0.894722	0.07318	U	1.088660	1	0.08975	N	1.385	0.34509	L	0.87	0.46412	T	-1.54	0.37375	N	0.1	0.08227	-1.0411	0.16981	T	0.040	0.17149	T	10	0.006975293	0.00159	T	.	.	.	0.012	0.01476	.	.	0.174091166621	0.17034	0.10967980334301777	0.10896	0.854114418886	0.68683	0.734494924545	0.72164	T	0.188684	0.54267	T	-0.570542	0.00220	T	-0.584502	0.14145	T	0.023335611287491	0.01063	T	0.458554	0.13215	T	0.052390184	0.09765	0.08879586	0.20726	0.052390184	0.09764	0.08879586	0.20725	-5.398	0.40900	T	.	.	0.113	0.22135	B	.	.	2.257057	0.28836	17.93	0.99512241542832602	0.68678	0.03771	0.09087	N	AEFDGBHCI	0.047422	0.07985	N	-1.08882766927206	0.06848	0.3164201	-1.10724207782475	0.07561	0.3682562	0.999999653286169	0.74766	0.538715	0.22204	0	0.52208	0.09955	0	0.78367	0.99111	0	0.508809	0.08732	0	.	.	4.68	-1.32	0.08721	-0.597000	0.05809	0.568000	0.19578	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1806:0.4108:0.0:0.4086	3.670	0.07807	658	0.62094	.	.	.	.	.	rs61731772	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002528	0.000000	0.000000	0.000000	0.000000	0.008621	0.003106	0.003788	0.02632	1188.33	90	chr11	67436137	.	C	T	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=740;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.807;SOR=0.798	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1202,0,1045	18	0	1	0
chr11	68262270	68262270	G	A	exonic	C11orf24	.	nonsynonymous SNV	C11orf24:NM_022338:exon4:c.C725T:p.A242V	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0282321974161	0.0032	0.00239617	0.0042	0.0011	0.0017	0	0.0006	0.0048	0.0067	0.0095	0.0040103	620	154602	rs143548724	0.0041	0.0041	0.0039	0.0044	0.0123	0.0041	0.0040	0.0100	0.0094	0.0004	0.0013	0.0115	5.042e-05	0.0005	0.0123	0.0039	0.0054	0.0102	0.0031	0.0031	0.0031	0.0031	0.0091	0.0029	0.0028	0.0070	0.0062	0.0009	0.0274	0.0020	0.0112	0.0002	0.0005	0.0204	0.0041	0.0038	0.0091	0.075	0.34444	T	1.0	0.01155	T	0.259	0.31472	B	0.042	0.24114	B	0.387933	0.04459	N	1.566200	1	0.21199	N	0	0.06538	N	1.53	0.30401	T	-0.72	0.20358	N	0.027	0.00571	-1.0101	0.26886	T	0.049	0.20789	T	10	0.0036025643	0.00065	T	0.028232	0.50935	D	0.027	0.05988	.	.	0.0297737177859	0.01360	0.17739713016599357	0.17658	0.0499308058184	0.05480	.	.	.	0.002935	0.02330	T	-0.659442	0.00063	T	-0.712912	0.05146	T	0.00710173053315158	0.00081	T	0.433957	0.11861	T	0.021631114	0.00775	0.03497424	0.02661	0.021631114	0.00775	0.03497424	0.02661	-4.253	0.27513	T	.	.	0.086	0.10545	B	.	.	1.533363	0.19672	14.38	0.97992139826947355	0.37408	0.26049	0.22880	N	AEFDGBCI	0.303205	0.41124	N	-1.07104348328458	0.07181	0.3328161	-1.07690766327859	0.08156	0.3997983	0.999998449885556	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.61	2.73	0.31266	1.147000	0.31213	1.594000	0.27546	-0.873000	0.02525	0.003000	0.16062	0.064000	0.22093	0.000000	0.00833	0.1699:0.0:0.8301:0.0	9.973	0.40939	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.013587	0.002924	0.100000	0.017241	0.018293	0.015152	0.02632	1304.33	90	chr11	68262270	.	G	A	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=773;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.994;SOR=0.954	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1318,0,1013	18	0	1	0
chr11	69062946	69062946	G	C	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon6:c.G609C:p.K203N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.566573121995	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767658519	3.424e-06	7.662e-05	4.088e-06	2.753e-06	4.502e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.983	0.81110	D	0.000000	0.84330	D	0.051808	0.98787	0.40664	D	3.13	0.88074	M	-5.1	0.98700	D	-4.57	0.78721	D	0.819	0.81459	1.059	0.98310	D	0.962	0.98783	D	10	0.666906	0.70481	D	0.566573	0.96064	D	0.803	0.93582	0.565	0.68633	0.890918811248	0.88984	0.8145515243667576	0.81411	0.781653008177	0.65330	0.735282063484	0.72279	T	0.838297	0.96205	D	0.227099	0.76446	D	0.0884361	0.76141	D	0.996135711669922	0.88735	D	0.959804	0.84855	D	0.94878507	0.96142	0.78956217	0.87619	0.94878507	0.96142	0.78956217	0.87619	-16.42	0.98325	D	.	.	0.983	0.91726	P	.;.;.;.	.;.;.;.	4.986874	0.82651	27.8	0.99871840539915624	0.94902	0.91723	0.54127	D	AEFDGBI	0.296118	0.40605	N	0.585380537984792	0.72261	5.778054	0.487604374071234	0.67169	5.047988	0.996270105924348	0.34636	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.59	2.67	0.30756	1.507000	0.35365	7.043000	0.57343	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2102:0.0:0.7898:0.0	9.645	0.39026	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.02941	67.18	143	chr11	69062946	.	G	C	67.18	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.423;DP=1570;ExcessHet=0;FS=84.249;InbreedingCoeff=-0.0598;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=0.058;SOR=6.994	GT:AD:DP:GQ:PL	0/1:111,32:143:80:80,0,2074	16	0	1	2
chr11	74033924	74033924	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6236T:p.T2079M	.	421	1071	30	0	0	30	0.0138122	.	.	.	1291895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00439297	0.0110	0	0.0052	0	0	0.0012	0.0053	0.0201	0.0014036	217	154602	rs184111772	0.0019	0.0018	0.0014	0.0024	0.0184	0.0018	0.0018	0.0176	0.0173	0.0002	0.0015	0.0008	0	0	0.0097	0.0008	0.0021	0.0184	0.0010	0.0010	0.0008	0.0013	0.0149	0.0009	0.0008	0.0122	0.0111	0.0002	0	0.0011	0.0009	0.0002	0	0.0102	0.0007	0.0019	0.0149	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000590	0.43095	D	0.096031	0.882274	0.35776	D	2.705	0.79137	M	2.64	0.12780	T	-2.09	0.47683	N	0.574	0.59648	-1.0499	0.14425	T	0.096	0.36159	T	7	0.0060827434	0.00137	T	.	.	.	0.184	0.45763	.	.	0.337378238328	0.33340	0.4445737345665607	0.44375	.	.	.	.	.	0.053507	0.29462	T	-0.286743	0.09966	T	-0.169726	0.57469	T	0.0842597628729641	0.10523	T	0.873413	0.58193	D	0.089841336	0.21004	0.21382648	0.45909	0.075775586	0.17095	0.17880712	0.40573	-5.338	0.40318	T	0.8030745479137866	0.87944	0.097	0.15788	B	.	.	4.330860	0.66357	25.0	0.9991052077426007	0.98022	0.97068	0.72503	D	AEFGBI	0.573744	0.57681	D	0.515381272732333	0.67998	5.157176	0.613423312346808	0.75913	6.395608	0.999999989327057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	5.553000	0.66992	5.818000	0.50061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.338	0.94317	327	0.86637	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2813.33	229	chr11	74033924	.	G	A	2813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=876;ExcessHet=0;FS=0.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.052;SOR=0.749	GT:AD:DP:GQ:PL	0/1:116,113:229:99:2827,0,2784	18	0	1	0
chr11	75006172	75006172	A	C	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_006656:exon3:c.A1066C:p.T356P,NEU3:NM_001367860:exon4:c.A1066C:p.T356P	.	424	1058	38	2	0	42	0.0194625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0013	0.00658946	0.0039	0.0004	0.0029	0	0.0002	0.0024	0.0078	0.0161	0.0036545	565	154602	rs143740329	0.0026	0.0026	0.0021	0.0031	0.0162	0.0026	0.0025	0.0155	0.0152	0.0004	0.0024	0.0044	2.519e-05	9.363e-05	0.0113	0.0017	0.0036	0.0162	0.0021	0.0021	0.0020	0.0023	0.0158	0.0019	0.0018	0.0129	0.0119	0.0006	0	0.0036	0.0052	0	0	0.0068	0.0020	0.0043	0.0158	0.389	0.10874	T	0.137	0.33894	T	.	.	.	.	.	.	0.126063	0.02768	N	1.748710	1	0.08975	N	.	.	.	-1.76	0.83578	D	-0.81	0.22294	N	0.059	0.04790	-0.8823	0.49577	T	0.294	0.66574	T	10	0.004731238	0.00100	T	.	.	.	0.194	0.47447	.	.	0.246215685461	0.24236	0.3099720632532257	0.30910	0.0512016197912	0.05634	0.269134581089	0.06028	T	.	.	.	-0.410974	0.01958	T	-0.350138	0.39189	T	0.00551444159673872	0.00060	T	0.167583	0.01563	T	.	.	.	.	.	.	.	.	-2.863	0.08778	T	.	.	0.065	0.02012	B	.;.	.;.	-0.372598	0.02317	0.246	0.78807510916451384	0.12461	0.11115	0.16418	N	AEFBCI	0.051137	0.09005	N	-0.977373718211172	0.09088	0.4287138	-0.994329827854061	0.09912	0.4959492	0.00239079858417211	0.09378	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.09	-0.0767	0.13055	0.053000	0.14067	-0.446000	0.09129	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5712:0.1622:0.2666:0.0	4.429	0.10945	807	0.43470	Sialidase;Sialidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.000000	0.016304	0.014620	0.050000	0.008621	0.012195	0.007576	0.02632	4014.33	289	chr11	75006172	.	A	C	4014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.049;DP=946;ExcessHet=0;FS=5.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.129;SOR=0.461	GT:AD:DP:GQ:PL	0/1:133,156:289:99:4028,0,3481	18	0	1	0
chr11	76351556	76351556	G	T	exonic	THAP12	.	nonsynonymous SNV	THAP12:NM_004705:exon5:c.C1594A:p.H532N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00297750594928	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs9666739	4.214e-06	3.762e-05	5.555e-06	2.842e-06	0.0001	1.52e-06	1e-06	3.33e-05	1.969e-05	6.249e-05	0.0001	0	0	0	0	0	0	0	8.748e-05	0.0010	9.193e-05	8.28e-05	0.0002	5.172e-05	4.051e-05	0.0001	7.395e-05	0.0002	0	0.0001	0	0	9.586e-05	0	1.482e-05	0.0005	0	0.0	0.91255	D	0.076	0.42614	T	0.053	0.22573	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	.	.	.	-5.54	0.86149	D	0.664	0.67304	-0.6726	0.61711	T	0.286	0.65802	T	9	0.46782506	0.59679	T	0.002978	0.06369	T	0.211	0.50185	0.507	0.60232	0.245697971988	0.24196	0.7587346159986976	0.75821	1.69212223381	0.90150	0.775414288044	0.78237	T	0.588626	0.86639	D	0.141417	0.68459	D	-0.0346412	0.68061	D	0.993412911891937	0.84204	D	0.588541	0.21576	T	0.8751485	0.89272	0.7477391	0.85089	0.8751485	0.89273	0.7477391	0.85090	-8.001	0.61077	D	.	.	0.711	0.73392	P	.	.	3.469126	0.48388	22.6	0.98023625045095075	0.37650	0.98860	0.87816	D	AEFI	0.865884	0.78513	D	0.228958627928079	0.52606	3.433823	0.38357355737962	0.60550	4.244004	0.999999730120892	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.174000	0.93961	5.912000	0.51036	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.124	0.93361	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	34.71	66	chr11	76351556	.	G	T	34.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.547;DP=734;ExcessHet=0;FS=12.031;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=53.74;MQRankSum=-4.768;QD=0.53;ReadPosRankSum=-2.93;SOR=2.833	GT:AD:DP:GQ:PL	0/1:58,8:66:48:48,0,1750	17	0	1	1
chr11	77208439	77208439	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon43:c.G5866A:p.V1956I,MYO7A:NM_001127180:exon43:c.G5752A:p.V1918I,MYO7A:NM_001369365:exon44:c.G5719A:p.V1907I	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	52475	Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2|Usher_syndrome_type_1|Usher_syndrome_type_1B|not_specified|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.240	0.0446454110709	0.0024	0.00159744	0.0045	0.0010	0.0019	0	0.0041	0.0065	0.0012	0.0028	0.0042173	652	154602	rs142293185	0.0042	0.0042	0.0043	0.0042	0.0045	0.0041	0.0041	0.0044	0.0044	0.0013	0.0018	0.0150	0.0001	0.0034	0.0003	0.0045	0.0040	0.0020	0.0037	0.0037	0.0039	0.0035	0.0050	0.0034	0.0033	0.0046	0.0044	0.0013	0	0.0040	0.0167	0	0.0028	0	0.0050	0.0043	0.0025	0.239	0.21066	T	0.419	0.14158	T	0.935	0.52277	P	0.459	0.46380	P	0.023853	0.26367	N	0.370118	0.999996	0.58761	D	2	0.54354	M	-0.87	0.74583	T	-0.82	0.22508	N	0.366	0.81162	-0.6614	0.62215	T	0.240	0.60833	T	10	0.009595692	0.00216	T	0.044645	0.61592	D	0.240	0.54500	.	.	0.64749411766	0.64457	0.21953071178924213	0.21869	0.398382739974	0.40898	0.642459630966	0.58913	T	0.249037	0.61893	T	-0.349474	0.04760	T	-0.269644	0.47855	T	0.00817409145721839	0.00098	T	0.938006	0.76748	D	0.123182006	0.28929	0.09762946	0.23245	0.14032014	0.32378	0.08495531	0.19580	-12.388	0.86690	D	0.15508858871757167	0.18566	0.144	0.37764	B	.;.;.;.	.;.;.;.	3.574108	0.50354	22.9	0.98603943124682181	0.43546	0.95486	0.64913	D	AEFDBI	0.737828	0.68290	D	0.0880045460591601	0.45905	2.839245	0.067144311975351	0.42909	2.603728	0.999999977467093	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.29	3.36	0.37579	3.887000	0.55910	6.712000	0.56404	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0826:0.0:0.9174:0.0	12.556	0.55602	679	0.60090	FERM domain|Band 4.1 domain;.;.;FERM domain|Band 4.1 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1848.33	139	chr11	77208439	.	G	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=1548;ExcessHet=0;FS=2.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.065;SOR=0.911	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1862,0,2568	18	0	1	0
chr11	85757665	85757665	G	A	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_001162951:exon1:c.C61T:p.R21W,SYTL2:NM_001162953:exon1:c.C61T:p.R21W,SYTL2:NM_001365826:exon2:c.C61T:p.R21W,SYTL2:NM_032943:exon2:c.C61T:p.R21W,SYTL2:NM_206927:exon2:c.C61T:p.R21W,SYTL2:NM_206928:exon2:c.C61T:p.R21W	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.632	.	0.0030	0.00299521	0.0033	0.0007	0.0010	0	0.0006	0.0025	0.0033	0.0127	0.0031047	480	154602	rs149582759	0.0042	0.0042	0.0039	0.0045	0.0131	0.0041	0.0041	0.0125	0.0122	0.0007	0.0009	0.0009	2.519e-05	0.0003	0.0047	0.0041	0.0043	0.0131	0.0024	0.0024	0.0025	0.0023	0.0145	0.0022	0.0021	0.0118	0.0108	0.0011	0	0.0009	0.0003	0	9.436e-05	0.0068	0.0034	0.0038	0.0145	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.983109	0.81001	D	3.165	0.88605	M	-1.65	0.82625	D	-3.6	0.72240	D	0.897	0.92433	0.165	0.85318	D	0.642	0.87485	D	8	0.008777022	0.00199	T	.	.	.	0.632	0.85872	.	.	0.884670039485	0.88353	0.48240169209658024	0.48160	.	.	.	.	.	0.609051	0.87583	D	0.0602941	0.59651	T	0.324863	0.89294	D	0.0445521119747126	0.04520	T	0.993901	0.98139	D	0.42963374	0.62728	0.50274295	0.71255	0.5939278	0.72364	0.5211001	0.72332	-11.479	0.82554	D	.	.	0.634	0.75469	P	.;.;.;.;.;.	.;.;.;.;.;.	4.232756	0.64109	24.7	0.99897379755752935	0.96971	0.82843	0.42017	D	AEFBI	0.496647	0.53151	N	0.341652600437059	0.58299	4.001463	0.294119385690972	0.55195	3.682801	0.999116692593041	0.38479	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.8	2.81	0.31971	1.665000	0.37066	2.107000	0.30637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.3564:0.6436	14.439	0.66879	455	0.79073	.;.;.;Rab-binding domain;Rab-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.005051	0.000000	0.000000	0.000000	0.008621	0.006098	0.018939	0.02632	1105.33	74	chr11	85757665	.	G	A	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=701;ExcessHet=0;FS=4.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.538;SOR=0.465	GT:AD:DP:GQ:PL	0/1:26,48:74:99:1119,0,521	18	0	1	0
chr11	89801771	89801771	C	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon5:c.G669A:p.M223I	.	932	588	1	1	0	3	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00092450730519	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs1293181294	0.0059	0.0047	0.0054	0.0063	0.0123	0.0057	0.0057	0.0115	0.0112	0.0007	0.0012	0.0076	3.252e-05	0.0040	0.0063	0.0062	0.0049	0.0123	0.0047	0.0040	0.0047	0.0047	0.0094	0.0043	0.0042	0.0063	0.0060	0.0013	0	0.0020	0.0108	0	0.0054	0.0043	0.0070	0.0037	0.0094	0.174	0.22486	T	0.144	0.33109	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.78	0.03836	T	-1.37	0.33998	N	0.073	0.04668	-0.9105	0.46793	T	0.007	0.02439	T	8	0.006237954	0.00141	T	9.25E-4	0.00889	T	0.019	0.03383	0.522	0.62518	0.043077524339	0.03247	0.03044526464113662	0.02993	2.0043789819	0.93871	0.581990838051	0.50366	T	0.009759	0.08861	T	-0.403208	0.02206	T	-0.816957	0.01515	T	0.00147990334572773	0.00015	T	0.164884	0.01516	T	0.06968662	0.15290	0.07089837	0.15120	0.06968662	0.15289	0.07089837	0.15120	-3.569	0.17410	T	.	.	0.325	0.54890	B	.	.	-0.010184	0.04214	1.030	0.56072420918090116	0.05474	0.00301	0.01603	N	AEFI	0.028021	0.02391	N	-1.34955498525589	0.03130	0.139301	-1.46367434187579	0.02649	0.1221927	2.14990174235377E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-1.99	0.07047	-1.951000	0.01620	-20.000000	0.00162	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4342:0.3158:0.2501	2.504	0.04358	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	86.36	9	chr11	89801771	.	C	T	86.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.803;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=26.79;MQRankSum=0.589;QD=9.6;ReadPosRankSum=0.7;SOR=0.527	GT:AD:DP:GQ:PL	0/1:5,4:9:99:100,0,129	18	0	1	0
chr11	89803764	89803764	C	A	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon4:c.G441T:p.L147F	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0101487780628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.365e-06	2.056e-06	3.114e-06	1.597e-06	5.477e-05	6.3e-07	1.8e-07	9.07e-06	3.39e-06	0	0	0	5.477e-05	0	0	0	1.892e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.58626	D	0.071	0.43531	T	0.983	0.60381	D	0.91	0.64641	D	.	.	.	.	1	0.08975	N	3.105	0.87672	M	0.1	0.61326	T	-3.25	0.65283	D	0.168	0.17828	-0.7513	0.57867	T	0.273	0.64443	T	8	0.15585715	0.29366	T	0.010149	0.26346	T	0.199	0.48268	0.427	0.47350	0.0675242888579	0.06100	0.03532687602182797	0.03479	3.36241963825	0.99660	0.449546217918	0.31881	T	0.087532	0.37962	T	-0.223529	0.17514	T	-0.558861	0.16483	T	0.673591256141663	0.39498	D	0.817118	0.49142	T	0.097184926	0.22905	0.11820953	0.28534	0.097184926	0.22905	0.11820953	0.28534	-6.158	0.47582	T	.	.	0.371	0.57902	A	.;.	.;.	1.163555	0.15528	11.92	0.92854056625378856	0.22394	0.00111	0.00708	N	AEFI	0.024509	0.01528	N	-1.04841507474323	0.07619	0.3545328	-1.40135626185029	0.03238	0.1506723	6.29081650606823E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.861	-1.72	0.07671	-1.624000	0.02141	-20.000000	0.00162	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.2446:0.4331:0.0:0.3223	2.590	0.04546	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	15	chr11	89803764	.	C	A	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.096;DP=464;ExcessHet=0;FS=2.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.02;MQRankSum=0.524;QD=12.82;ReadPosRankSum=0.98;SOR=0.129	GT:AD:DP:GQ:PL	0/1:9,6:15:99:206,0,317	18	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	0.07895	8473.79	304	chr11	96384356	.	C	T	8473.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.71;DP=1537;ExcessHet=0.3672;FS=3.29;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.628;SOR=0.948	GT:AD:DP:GQ:PL	0/1:178,126:304:99:3159,0,3934	16	0	3	0
chr11	101488993	101488993	C	T	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon4:c.G1237A:p.V413I	Glomerulosclerosis, focal segmental, 2	.	.	.	.	.	.	.	.	.	.	3141603	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0250192704321	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs773420331	7.525e-06	7.525e-06	5.445e-06	9.626e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.517	0.07330	T	0.737	0.05036	T	0.998	0.73220	D	0.99	0.78936	D	0.000006	0.62929	D	0.106962	0.999979	0.81001	D	0.945	0.23706	L	-0.56	0.71187	T	-0.13	0.08971	N	0.479	0.51405	-0.5653	0.66200	T	0.395	0.74829	T	10	0.34780183	0.51707	T	0.025019	0.48002	D	0.290	0.60924	0.496	0.58520	0.800821260608	0.79896	0.2843145741639474	0.28344	0.892393200294	0.70274	0.425744593143	0.28626	T	0.21919	0.58213	T	-0.0591505	0.43039	T	-0.215085	0.53209	T	0.556836182013779	0.34736	D	0.853215	0.53849	D	0.1055928	0.24966	0.09973999	0.23825	0.1055928	0.24965	0.09973999	0.23825	-4.668	0.33015	T	0.14389444047008967	0.16395	0.119	0.26978	B	.;.	.;.	4.386108	0.67653	25.1	0.99149989221336365	0.53793	0.96114	0.67597	D	AEFBI	0.654031	0.62686	D	0.353560793852804	0.58928	4.068188	0.34334970142334	0.58108	3.97952	0.999977811677723	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.143000	0.71516	7.684000	0.65448	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	19.993	0.97375	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	.	.	.	.	.	.	.	.	0.02632	614.33	43	chr11	101488993	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.984;DP=673;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.548;SOR=0.204	GT:AD:DP:GQ:PL	0/1:15,28:43:99:628,0,388	18	0	1	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C,CFAP300:NM_032930:exon7:c.C754T:p.R252C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	317.84	97	chr11	102083149	.	C	T	317.84	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.3;DP=944;ExcessHet=0.7564;FS=421.434;InbreedingCoeff=-0.1244;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.71;SOR=9.401	GT:AD:DP:GQ:PL	0/1:66,31:97:68:68,0,738	15	0	4	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	T	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,30:222:99:.:.:328,0,5163:.	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,50:223:99:.:.:508,0,5144:.	1	0	10	8
chr11	107348964	107348966	CAA	-	exonic	CWF19L2	.	nonframeshift deletion	CWF19L2:NM_152434:exon14:c.2173_2175del:p.L725del	.	435	1037	49	1	0	51	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.00459265	0.0049	0.0007	0.0025	0	0.0002	0.0037	0.0078	0.0191	0.000461	12	26028	rs368279169	0.0030	0.0030	0.0023	0.0036	0.0209	0.0029	0.0029	0.0184	0.0180	0.0005	0.0022	0.0169	2.532e-05	7.507e-05	0.0209	0.0016	0.0042	0.0191	0.0025	0.0025	0.0022	0.0029	0.0197	0.0023	0.0022	0.0165	0.0153	0.0004	0	0.0019	0.0216	0	9.429e-05	0.0170	0.0022	0.0066	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011078	0.005051	0.014946	0.000000	0.000000	0.017241	0.012195	0.018939	0.02632	1560.29	75	chr11	107348963	.	CCAA	C	1560.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.501;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=0.643;SOR=0.616	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1574,0,1349	18	0	1	0
chr11	111786083	111786083	C	T	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352415:exon16:c.G1330A:p.A444T,ALG9:NM_001352416:exon16:c.G1330A:p.A444T,ALG9:NM_001352417:exon16:c.G1843A:p.A615T,ALG9:NM_001352419:exon16:c.G1351A:p.A451T	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	867038	ALG9_congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	.	0.0030	0	0	9.7e-05	15	154602	rs781928817	0.0005	0.0003	0.0004	0.0005	0.0005	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0.0072	0	0	0.0004	0.0002	0.0008	8.353e-05	0.0007	0.0007	0.0006	0.0009	0.0032	0.0006	0.0006	0.0025	0.0022	2.412e-05	0	0.0032	0.0112	0	0	0	0.0003	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	.	.	.	.	.	.	.	.	0.02632	1557.33	149	chr11	111786083	.	C	T	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.462;DP=765;ExcessHet=0;FS=4.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.869;SOR=0.712	GT:AD:DP:GQ:PL	0/1:84,65:149:99:1571,0,2120	18	0	1	0
chr11	113698926	113698926	G	A	exonic	TMPRSS5	.	nonsynonymous SNV	TMPRSS5:NM_001288749:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288750:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288751:exon4:c.C280T:p.L94F,TMPRSS5:NM_001288752:exon4:c.C307T:p.L103F,TMPRSS5:NM_030770:exon4:c.C307T:p.L103F	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0319359563654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260783593	6.949e-06	7.525e-06	2.757e-06	1.121e-05	0.0002	3.51e-06	2.56e-06	3.117e-05	2.118e-05	0	0	0	0	0	0.0002	1.816e-06	1.68e-05	7.297e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.45756	T	0.096	0.39340	T	0.265	0.62824	B	0.125	0.60574	B	0.559152	0.11355	N	0.786555	0.999999	0.25632	N	1.75	0.45442	L	-2.44	0.88924	D	-1.92	0.44657	N	0.227	0.27792	-0.2156	0.77268	T	0.651	0.87854	D	10	0.18059015	0.33251	T	0.031936	0.53895	D	0.271	0.58633	0.346	0.34112	0.87410230946	0.87287	0.20404953518214244	0.20321	0.0778009388178	0.08756	0.29227656126	0.09255	T	0.025477	0.21459	T	0.0279836	0.55454	T	-0.19758	0.54876	T	0.929076015949249	0.59291	D	0.659534	0.26859	T	0.067841865	0.14729	0.11518365	0.27804	0.067841865	0.14728	0.11518365	0.27804	-4.85	0.35168	T	.	.	0.067	0.18331	B	.;.;.;.;.;.	.;.;.;.;.;.	1.471190	0.18953	14.01	0.99170322510304021	0.54355	0.06697	0.12717	N	AEFDBI	0.089453	0.18130	N	-0.243979139336494	0.31343	1.756592	-0.318510697573202	0.27501	1.526454	0.937061059474884	0.27281	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.77	2.83	0.32150	1.167000	0.31456	2.619000	0.33623	0.676000	0.76740	0.002000	0.15269	0.112000	0.22806	0.964000	0.52637	0.0:0.0:0.7731:0.2269	8.670	0.33305	542	0.72843	.;.;.;.;Serine proteases, trypsin domain;Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1494.83	74	chr11	113698926	.	G	A	1494.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.231;DP=737;ExcessHet=0.119;FS=0.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.97;SOR=0.595	GT:AD:DP:GQ:PL	0/1:40,34:74:99:826,0,1038	17	0	2	0
chr11	117281972	117281972	A	G	exonic	RNF214	.	nonsynonymous SNV	RNF214:NM_001077239:exon11:c.A1414G:p.M472V,RNF214:NM_001278249:exon11:c.A949G:p.M317V,RNF214:NM_207343:exon11:c.A1414G:p.M472V	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0029565212334	0.0002	.	0.0001	0.0002	0	0	0.0003	5.994e-05	0.0011	0.0002	8.41e-05	13	154602	rs372942701	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.987e-05	4.472e-05	0	0	1.872e-05	0.0009	0.0001	0.0001	0.0003	6.579e-05	6.569e-05	5.145e-05	8.081e-05	0.0002	3.521e-05	2.619e-05	4.745e-05	3.057e-05	0.0001	0	0	0	0	9.445e-05	0	4.412e-05	0	0.0002	0.556	0.06523	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.020765	0.26970	N	0.442593	0.998956	0.21765	N	0.205	0.09354	N	1.0	0.41392	T	0.27	0.04306	N	0.148	0.20528	-1.0385	0.17771	T	0.051	0.21572	T	10	0.03623131	0.01910	T	0.002957	0.06309	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.21439711801994119	0.21355	0.597247987986	0.54927	0.456062883139	0.32772	T	0.007618	0.07015	T	-0.481444	0.00725	T	-0.629013	0.10490	T	0.00396905586632035	0.00042	T	0.772923	0.40417	T	0.066837676	0.14420	0.06044268	0.11511	0.066837676	0.14420	0.06044268	0.11510	-2.747	0.07706	T	.	.	0.061	0.01622	B	.;.;.;.	.;.;.;.	1.020483	0.13998	10.57	0.84453156469314117	0.15300	0.48065	0.28123	N	AEFBI	0.043740	0.06951	N	-0.530098964818521	0.21112	1.118018	-0.352620266042058	0.26427	1.459698	0.99974801520428	0.42466	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.67	2.08	0.26079	1.450000	0.34745	3.484000	0.38668	0.756000	0.94297	0.866000	0.30720	1.000000	0.68203	1.000000	0.97212	0.6176:0.0:0.3824:0.0	7.633	0.27414	651	0.62880	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1915.33	164	chr11	117281972	.	A	G	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.224;SOR=0.713	GT:AD:DP:GQ:PL	0/1:87,77:164:99:1929,0,2324	18	0	1	0
chr11	117394473	117394473	C	T	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon20:c.C2749T:p.R917W,CEP164:NM_014956:exon21:c.C2740T:p.R914W	Nephronophthisis 15, Autosomal recessive	10	1509	3	0	0	3	0.000993049	.	.	.	1030064	Inborn_genetic_diseases|Nephronophthisis_15	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0185275069786	.	.	7.72e-05	0	0	0	0.0003	6.177e-05	0.0012	0.0001	6.47e-05	10	154602	rs541217768	7.937e-05	7.935e-05	6.807e-05	9.078e-05	0.0009	6.735e-05	6.268e-05	0.0004	0.0002	5.975e-05	6.71e-05	0	0	1.873e-05	0.0009	7.284e-05	6.626e-05	0.0002	3.943e-05	3.94e-05	5.14e-05	2.69e-05	4.826e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	9.425e-05	0	4.41e-05	0	0	0.051	0.39334	T	0.058	0.46182	T	0.01	0.15535	B	0.003	0.08700	B	0.071573	0.21465	N	0.333926	0.999921	0.19486	N	1.6	0.40776	L	0.9	0.45248	T	-3.72	0.70793	D	0.275	0.31140	-0.9469	0.41498	T	0.168	0.50729	T	10	0.06287721	0.08107	T	0.018528	0.40624	T	0.079	0.23065	0.291	0.25241	0.128392430309	0.12331	0.08779702365530462	0.08712	0.116468510547	0.13138	0.331542760134	0.15167	T	0.176165	0.52601	T	-0.371978	0.03495	T	-0.479949	0.24452	T	0.0433391119350566	0.04300	T	0.852015	0.53695	D	0.0505926	0.09165	0.07538848	0.16592	0.0505926	0.09164	0.07538848	0.16591	-9.439	0.70479	D	0.16386415355001213	0.20216	0.118	0.24192	B	.	.	3.207147	0.43640	21.8	0.98251182865976705	0.39576	0.41450	0.26660	N	AEFBI	0.193327	0.32045	N	-0.513026521109098	0.21659	1.151025	-0.544032685195895	0.20964	1.131903	0.101499554059475	0.16380	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.55	0.086	0.13753	0.466000	0.21731	-0.645000	0.08057	-0.314000	0.05961	0.263000	0.24978	0.000000	0.08366	0.689000	0.33808	0.2894:0.415:0.133:0.1626	1.729	0.02752	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	.	.	.	.	.	.	.	.	0.02632	1311.33	122	chr11	117394473	.	C	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.57;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1325,0,1652	18	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	0	1471	50	1	0	52	0.0173681	.	.	.	254020	Isolated_microphthalmia_5|not_provided|not_specified|Retinal_degeneration	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.028497	0.045455	0.035326	0.031469	0.000000	0.025862	0.015244	0.007576	0.02632	756.33	71	chr11	119342609	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=717;ExcessHet=0;FS=5.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.279;SOR=0.278	GT:AD:DP:GQ:PL	0/1:41,30:71:99:770,0,1123	18	0	1	0
chr11	120819909	120819909	C	G	exonic	GRIK4	.	nonsynonymous SNV	GRIK4:NM_001282470:exon5:c.C500G:p.A167G,GRIK4:NM_001282473:exon6:c.C500G:p.A167G,GRIK4:NM_014619:exon6:c.C500G:p.A167G	.	425	1075	22	0	0	22	0.0101289	.	.	.	701614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.570	.	0.0078	0.00419329	0.0068	0.0016	0.0019	0	0.0064	0.0091	0.0121	0.0074	0.007018	1085	154602	rs41297895	0.0095	0.0095	0.0094	0.0095	0.0108	0.0093	0.0093	0.0106	0.0106	0.0008	0.0022	0.0040	0	0.0079	0.0064	0.0108	0.0073	0.0083	0.0059	0.0059	0.0058	0.0060	0.0094	0.0056	0.0055	0.0088	0.0086	0.0018	0.0011	0.0027	0.0037	0	0.0079	0.0034	0.0094	0.0052	0.0066	0.065	0.36310	T	0.045	0.49390	D	0.792	0.44688	P	0.719	0.54822	P	0.000000	0.84330	D	0.049277	0.999999	0.58761	D	1.995	0.54099	M	-1.68	0.82897	D	-1.49	0.36385	N	0.748	0.74735	0.174	0.85462	D	0.540	0.83037	D	10	0.011505038	0.00251	T	.	.	.	0.570	0.82516	.	.	0.427389866859	0.42359	0.7533756317083357	0.75284	0.826879389278	0.67445	0.785973191261	0.79830	T	0.154789	0.49623	T	-0.236178	0.15841	T	-0.0970931	0.63622	T	0.0471751718353885	0.04996	T	0.852415	0.53747	D	0.27598515	0.50660	0.28353706	0.54347	0.25637498	0.48677	0.28353706	0.54346	-8.486	0.64337	D	0.2306176906730736	0.31204	0.216	0.44605	B	.;.;.	.;.;.	4.927203	0.81204	27.5	0.99758027828383455	0.84851	0.97864	0.77703	D	AEFDBI	0.901267	0.84776	D	0.591667668991544	0.72654	5.839898	0.602303416052797	0.75107	6.252411	0.999992178824111	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.71	4.71	0.59010	7.530000	0.80856	7.621000	0.62310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.855	0.88672	761	0.50382	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	1826.33	148	chr11	120819909	.	C	G	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=799;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.52;SOR=1.025	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1840,0,2003	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	445.14	249	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	445.14	.	AC=1;AF=0.038;AN=26;BaseQRankSum=5.43;DP=2175;ExcessHet=0;FS=57.898;InbreedingCoeff=-0.04;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=-3.738;SOR=5.14	GT:AD:DP:GQ:PL	0/1:222,27:249:99:456,0,9193	12	0	1	6
chr12	6388415	6388415	G	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon7:c.G628T:p.A210S,LTBR:NM_002342:exon7:c.G685T:p.A229S	.	383	1106	32	1	0	34	0.015138	.	.	.	725226	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.298	.	0.0044	0.00419329	0.0052	0.0012	0.0048	0.0001	0.0006	0.0055	0.0122	0.0107	0.0049999	773	154602	rs41332645	0.0059	0.0060	0.0058	0.0061	0.0105	0.0058	0.0058	0.0100	0.0097	0.0008	0.0036	0.0057	2.519e-05	0.0004	0.0087	0.0063	0.0060	0.0105	0.0040	0.0040	0.0041	0.0039	0.0083	0.0038	0.0037	0.0063	0.0055	0.0009	0.0044	0.0046	0.0046	0.0002	0.0002	0.0170	0.0062	0.0057	0.0083	0.14	0.25664	T	0.156	0.32040	T	0.447	0.36006	B	0.063	0.27082	B	0.053605	0.02051	N	2.323050	1	0.81001	D	2.31	0.66127	M	-2.2	0.86888	D	-0.45	0.14782	N	0.351	0.39254	-0.5753	0.65804	T	0.406	0.75600	T	10	0.01009208	0.00226	T	.	.	.	0.298	0.61843	.	.	0.788720867514	0.78676	0.700720663021327	0.70013	0.186489258796	0.20959	0.357159256935	0.18971	T	0.135537	0.46740	T	-0.351091	0.04659	T	-0.269133	0.47908	T	0.0104986879931563	0.00145	T	0.682032	0.29067	T	0.032337707	0.03241	0.041256744	0.04647	0.032337707	0.03241	0.041256744	0.04647	-3.886	0.22813	T	.	.	0.121	0.25000	B	.;.	.;.	2.344849	0.30055	18.32	0.96384255400607333	0.29630	0.63326	0.32055	D	AEFGBHCI	0.485854	0.52527	N	-0.571582043788752	0.19811	1.039836	-0.531999366364972	0.21286	1.150795	0.999998040825816	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	0.667	0.17076	1.393000	0.34106	3.628000	0.39306	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0938:0.3095:0.4171:0.1796	3.119	0.06002	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.000000	0.008152	0.008772	0.050000	0.000000	0.009146	0.007576	0.07895	4601.77	111	chr12	6388415	.	G	T	4601.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.341;DP=862;ExcessHet=0;FS=2.892;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=-0.069;SOR=0.95	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3431,333,0	17	1	1	0
chr12	7794790	7794790	A	G	exonic	NANOG	.	nonsynonymous SNV	NANOG:NM_001297698:exon4:c.A565G:p.T189A,NANOG:NM_024865:exon4:c.A613G:p.T205A	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0790458724361	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482876293	2.142e-06	2.053e-06	2.828e-06	1.442e-06	1.306e-05	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.441e-05	1.306e-05	6.679e-06	6.581e-06	1.301e-05	0	2.456e-05	0	0	.	.	2.456e-05	0	0	0	0	0	0	0	0	0	0.144	0.25255	T	0.265	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.193071	0.03264	N	1.557090	1	0.08975	N	0.815	0.20815	L	-2.75	0.91249	D	-0.13	0.13226	N	0.043	0.05414	-0.6342	0.63392	T	0.489	0.80589	T	10	0.10453421	0.19276	T	0.079046	0.73145	D	0.265	0.57870	0.274	0.22528	0.747490851757	0.74521	0.1127232708145812	0.11200	0.827582985191	0.67484	0.248797103763	0.03642	T	0.351089	0.71871	T	-0.0874895	0.38489	T	-0.363449	0.37653	T	0.0702239989601328	0.08682	T	0.107789	0.01283	T	0.014670946	0.00103	0.015569734	0.00008	0.014670946	0.00103	0.015569734	0.00008	-3.988	0.23759	T	.	.	0.059	0.01197	B	.;.;.	.;.;.	-1.195999	0.00534	0.012	0.27684227439727088	0.01386	0.02029	0.06086	N	AEFBI	0.028098	0.02413	N	-1.83348481162499	0.00468	0.02014992	-1.89585160942058	0.00499	0.02210643	0.00556296378111344	0.10978	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	2.8	-2.5	0.06015	-3.233000	0.00605	-4.671000	0.02041	-1.934000	0.00496	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5731:0.0:0.2341:0.1929	3.154	0.06109	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	.	.	.	.	.	.	.	.	0.05263	1749.81	56	chr12	7794790	.	A	G	1749.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.697;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36;MQRankSum=0.551;QD=31.25;ReadPosRankSum=0.836;SOR=1.211	GT:AD:DP:GQ:PL	1/1:1,55:56:99:1777,136,0	18	1	0	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	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:100,10:110:29:29,0,3049	11	0	8	0
chr12	11393389	11393389	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A689G:p.N230S,PRB2:NM_006248:exon3:c.A689G:p.N230S	.	435	1073	12	2	0	16	0.00740056	.	.	.	3907984	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.000486918617216	.	.	0.0004	0.0002	0.0002	0	0	0.0004	0.0011	0.0012	0.0001921	5	26028	rs775513569	1.371e-06	3.902e-05	1.364e-06	1.378e-06	2.334e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.334e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02742	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.6	0.04494	T	-0.07	0.08033	N	0.035	0.01004	-0.8923	0.48731	T	0.009	0.03227	T	9	0.028829008	0.01012	T	4.87E-4	0.00143	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.04384037740566545	0.04328	0.0547928800193	0.06069	.	.	.	.	.	.	-0.439859	0.01296	T	-0.869604	0.00746	T	0.0317482109287821	0.02266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	-0.605176	0.01558	0.102	0.26337058837095856	0.01257	0.00108	0.00689	N	AEFBI	0.022613	0.01153	N	-1.78002062978341	0.00596	0.02567627	-1.88998809501248	0.00512	0.02270753	2.60052130758384E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.892	-1.78	0.07527	-0.048000	0.11898	-5.098000	0.01850	-0.625000	0.04531	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.247:0.0:0.753	4.582	0.11658	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	0.001587	0.000000	0.001359	0.000000	0.000000	0.008772	0.003049	0.000000	0.05263	431.83	102	chr12	11393389	.	T	C	431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=3190;ExcessHet=0.119;FS=13.624;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.08;MQRankSum=-5.051;QD=1.39;ReadPosRankSum=-2.98;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:99:0|1:11393380_T_C:275,0,3577:11393380	17	0	2	0
chr12	11393392	11393392	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A686G:p.D229G,PRB2:NM_006248:exon3:c.A686G:p.D229G	.	434	1074	12	2	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000385675308946	.	.	0.0001	0.0001	8.637e-05	0	0	0.0001	0	0.0005	0.0001537	4	26028	rs1244336640	1.387e-06	2.806e-05	2.76e-06	0	2.581e-05	2.3e-07	9e-08	.	.	0	0	0	2.581e-05	0	0	0	0	1.178e-05	1.007e-05	1.55e-05	0	2.083e-05	4.47e-05	0	0	.	.	4.47e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.898	0.03065	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.56	0.01933	T	-1.32	0.32991	N	0.059	0.03069	-0.9246	0.44915	T	0.003	0.00832	T	9	0.038134128	0.02212	T	3.86E-4	0.00059	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.09402591042167927	0.09334	0.0850906221602	0.09619	.	.	.	.	.	.	-0.434416	0.01395	T	-0.861785	0.00824	T	0.0382967305688353	0.03384	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08512	B	.	.	-0.980155	0.00800	0.026	0.34512470894480179	0.02115	0.00032	0.00291	N	AEFBI	0.017448	0.00458	N	-1.90524634732558	0.00335	0.01438476	-1.94847417651649	0.00391	0.01730527	1.96888064785958E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.277000	0.01242	-1.127000	0.06250	-1.882000	0.00541	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4527:0.1986:0.3487	3.875	0.08559	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	.	.	.	.	.	.	.	.	0.05263	354.83	99	chr12	11393392	.	T	C	354.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=3187;ExcessHet=0.119;FS=12.704;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.9;MQRankSum=-4.918;QD=1.17;ReadPosRankSum=-2.714;SOR=1.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,13:99:99:0|1:11393380_T_C:260,0,3503:11393380	17	0	2	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,45:96:99:1|0:12477731_TGCACGCTGG_T:3438,1641,1964:12477731	14	0	5	0
chr12	14949865	14949865	C	G	exonic	ARHGDIB	.	nonsynonymous SNV	ARHGDIB:NM_001175:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321421:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321422:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321423:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321420:exon4:c.G202C:p.V68L	.	435	1052	31	4	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00643697141439	0.0045	0.00179712	0.0039	0.0007	0.0017	0	0.0008	0.0057	0.0077	0.0033	0.003868	598	154602	rs41276686	0.0047	0.0047	0.0047	0.0048	0.0089	0.0046	0.0046	0.0069	0.0062	0.0009	0.0029	0.0202	2.52e-05	0.0010	0.0089	0.0049	0.0059	0.0041	0.0035	0.0035	0.0039	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0009	0	0.0039	0.0173	0	0.0007	0.0068	0.0049	0.0071	0.0035	0.383	0.11085	T	0.655	0.06621	T	0.0	0.02946	B	0.007	0.12992	B	0.623315	0.10756	N	0.844183	1	0.08975	N	1.465	0.36909	L	.	.	.	-0.92	0.27669	N	0.116	0.10483	-1.0043	0.28666	T	0.085	0.33071	T	9	0.00884226	0.00200	T	0.006437	0.16956	T	0.020	0.03691	.	.	0.104622674875	0.10061	0.19116943156447241	0.19034	0.152405977807	0.17200	0.288567006588	0.08715	T	0.227527	0.59284	T	-0.505251	0.00534	T	-0.495923	0.22771	T	0.00235863157850348	0.00024	T	0.852015	0.53695	D	0.10316605	0.24383	0.06509435	0.13143	0.10316605	0.24383	0.06509435	0.13143	-7.25	0.55839	T	.	.	0.165	0.36455	B	.;.;.;.;.;.	.;.;.;.;.;.	1.067310	0.14493	11.06	0.8938090796649002	0.18748	0.08200	0.14159	N	AEFDGBCI	0.082619	0.16731	N	-0.926254409698293	0.10231	0.4879214	-0.931582882893268	0.11350	0.5777253	0.99999976364513	0.74766	0.50712	0.20391	0	0.672317	0.65289	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	5.23	1.28	0.20656	0.386000	0.20429	1.028000	0.23458	-0.177000	0.10537	0.000000	0.06391	0.951000	0.29025	0.844000	0.39860	0.0:0.2506:0.0:0.7494	8.197	0.30563	546	0.72524	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2040.33	177	chr12	14949865	.	C	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=823;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.539;SOR=0.78	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2054,0,2170	18	0	1	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	83.79	53	chr12	21805301	.	G	C	83.79	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.029;DP=778;ExcessHet=0.1259;FS=114.817;InbreedingCoeff=-0.1789;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=0.24;SOR=7.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,14:53:48:0|1:21805301_G_C:48,0,975:21805301	10	0	2	7
chr12	24996002	24996002	G	C	exonic	C12orf77	.	nonsynonymous SNV	C12orf77:NM_001101339:exon3:c.C212G:p.T71R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00251608829326	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs765941226	2.304e-05	1.915e-05	2.447e-05	2.158e-05	0.0011	1.598e-05	1.375e-05	0.0004	0.0003	0	5.364e-05	0	0	0	0.0011	1.992e-05	4.545e-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	.	.	.	.	.	.	.	.	0.02632	2447.33	188	chr12	24996002	.	G	C	2447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.281;SOR=0.709	GT:AD:DP:GQ:PL	0/1:100,88:188:99:2461,0,2363	18	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:156,20:176:7:7,0,4303	13	0	6	0
chr12	32878416	32878416	C	G	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon3:c.G464C:p.S155T,PKP2:NM_004572:exon3:c.G464C:p.S155T	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	54246	Primary_familial_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|not_specified	MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.259	0.394674920223	7.7e-05	.	3.299e-05	0	0.0002	0	0	3.001e-05	0	0	2.59e-05	4	154602	rs141438322	5.062e-05	5.062e-05	3.948e-05	6.188e-05	0.0021	4.125e-05	3.778e-05	0.0012	0.0009	2.987e-05	6.708e-05	0	0	0	0.0021	4.047e-05	0.0001	5.797e-05	3.286e-05	3.284e-05	3.854e-05	2.691e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.88e-05	0	0	0.024	0.53172	D	0.288	0.26714	T	0.952	0.54136	P	0.6	0.50752	P	0.086079	0.20607	N	0.486374	0.612199	0.30851	N	2.175	0.60977	M	-1.57	0.81900	D	-1.18	0.30140	N	0.383	0.42443	0.125	0.84616	D	0.556	0.83780	D	10	0.27837878	0.45407	T	0.394675	0.93265	D	0.259	0.57090	.	.	0.856265283402	0.85488	0.5083121000048116	0.50753	0.485800927683	0.47462	0.438046455383	0.30310	T	0.204999	0.56394	T	-0.121879	0.32816	T	-0.215876	0.53133	T	0.127116584558858	0.15112	T	0.693131	0.30283	T	0.15544437	0.35131	0.13602787	0.32553	0.15544437	0.35131	0.13602787	0.32552	-5.755	0.44180	T	0.2997177093397476	0.39700	0.122	0.25298	B	.;.	.;.	2.842582	0.37510	20.5	0.99465552659774736	0.66049	0.94958	0.62924	D	AEFDGBI	0.629291	0.61106	D	0.363809009884692	0.59474	4.126952	0.3919860945261	0.61070	4.302132	0.999999978609629	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.52	5.52	0.82153	3.014000	0.49278	7.534000	0.59965	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:1.0:0.0:0.0	17.263	0.86963	667	0.61242	.;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	132	chr12	32878416	.	C	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.73;SOR=0.695	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1616,0,1946	18	0	1	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2585.75	1164	chr12	40483175	.	GAAC	G	2585.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=6.4;DP=14253;ExcessHet=0.3672;FS=6.847;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.67;MQRankSum=-16.38;QD=1;ReadPosRankSum=-9.998;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1083,81:1164:99:0|1:40483128_A_G:202,0,45173:40483128	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1249,70:1319:99:.:.:5753,0,51712:.	8	0	11	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1186,24:1213:99:.:.:5668,0,48308:.	11	0	8	0
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	299.79	631	chr12	40488211	.	TGGGGTG	T	299.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.777;DP=13465;ExcessHet=0.119;FS=9.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.81;MQRankSum=-20.17;QD=0.17;ReadPosRankSum=-4.478;SOR=1.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:578,53:631:99:0|1:40488211_TGGGGTG_T:197,0,23323:40488211	17	0	2	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8703.6	631	chr12	40488214	.	G	*	8703.6	.	AC=2;AF=0.071;AN=28;BaseQRankSum=6.55;DP=13462;ExcessHet=1.3;FS=8.732;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.071;MQ=58.21;MQRankSum=-16.67;QD=2.4;ReadPosRankSum=-8.188;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:578,53:631:99:0|1:40488211_TGGGGTG_T:197,0,23323:40488211	12	0	2	5
chr12	40488755	40488784	GTGACAGGGACAACTGGACTATCAGCTGGG	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89e-05	0.0001	2.007e-05	1.754e-05	6.55e-05	1.096e-05	8.58e-06	4.29e-06	2.76e-06	6.55e-05	0	0	0	0	0	1.033e-05	0.0002	0	9.466e-05	0.0012	0.0001	7.389e-05	0.0011	4.66e-05	3.431e-05	0.0002	8.041e-05	7.344e-05	0	0	0	0	0	0	8.253e-05	0.0009	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	154.67	755	chr12	40488754	.	AGTGACAGGGACAACTGGACTATCAGCTGGG	A	154.67	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.72;DP=18059;ExcessHet=0;FS=4.98;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.167;MQ=57.93;MQRankSum=-0.453;QD=0.21;ReadPosRankSum=-8.868;SOR=1.295	GT:AD:DP:GQ:PL	0/1:685,68:755:99:160,0,26488	5	0	1	13
chr12	40534711	40534711	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	444	1047	30	1	0	32	0.0150517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0076	0	0.0050	0	0	0.0041	0.0069	0.0170	0.0008797	136	154602	rs200624352	0.0014	0.0015	0.0013	0.0015	0.0183	0.0013	0.0013	0.0153	0.0141	0.0002	0.0015	0.0038	0	9.606e-05	0.0183	0.0011	0.0024	0.0069	0.0012	0.0012	0.0011	0.0013	0.0056	0.0011	0.0010	0.0039	0.0034	0.0003	0	0.0018	0.0058	0.0002	0	0.0181	0.0012	0.0040	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1567.83	50	chr12	40534711	.	G	A	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=794;ExcessHet=0.119;FS=10.147;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.741;SOR=1.498	GT:AD:DP:GQ:PL	0/1:27,23:50:99:614,0,676	17	0	2	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.02632	1843.33	126	chr12	57002801	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=748;ExcessHet=0;FS=3.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.917;SOR=0.464	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1857,0,1393	18	0	1	0
chr12	63597906	63597906	C	A	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon14:c.G1364T:p.R455L	Spermatogenic failure 9, Autosomal recessive	242	1266	11	3	0	17	0.00666928	.	.	.	3547151	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00747258239354	0.0011	0.00199681	0.0020	0.0005	0.0016	0.0001	0	0.0015	0.0011	0.0071	0.0017205	266	154602	rs147328742	0.0018	0.0018	0.0016	0.0019	0.0077	0.0017	0.0017	0.0072	0.0070	0.0004	0.0022	0.0080	0	9.435e-05	0.0021	0.0013	0.0025	0.0077	0.0016	0.0016	0.0016	0.0016	0.0071	0.0015	0.0014	0.0052	0.0045	0.0004	0	0.0045	0.0063	0	9.535e-05	0	0.0015	0.0028	0.0071	0.009	0.57480	D	0.008	0.67890	D	0.013	0.16609	B	0.023	0.19966	B	0.000149	0.49130	N	0.175210	0.983463	0.24882	N	.	.	.	0.5	0.55608	T	-2.42	0.53096	N	0.378	0.41952	-1.1102	0.03053	T	0.045	0.19275	T	9	0.0106499195	0.00236	T	0.007473	0.19819	T	0.142	0.37995	.	.	0.430126000877	0.42631	0.7062629122383266	0.70568	0.222820380777	0.24817	0.415307432413	0.27191	T	0.064252	0.38424	T	-0.397893	0.02390	T	-0.340177	0.40323	T	0.0281101279353601	0.01705	T	0.407159	0.14976	T	0.11490747	0.27122	0.14272255	0.33945	0.13063732	0.30475	0.16589046	0.38353	-7.903	0.60407	D	0.13448407134632476	0.14532	0.164	0.40424	B	.;.	.;.	2.351172	0.30146	18.35	0.97961676970337497	0.37180	0.46214	0.27710	N	AEFI	0.296110	0.40605	N	-0.571342147634044	0.19820	1.040277	-0.477704734001758	0.22769	1.238353	1.09642434955734E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.14	0.055	0.13628	1.794000	0.38408	0.112000	0.14796	0.304000	0.19002	1.000000	0.71638	0.011000	0.20116	0.504000	0.29107	0.2285:0.5111:0.0:0.2605	2.676	0.04766	849	0.35778	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006773	0.000000	0.005495	0.004464	0.000000	0.017857	0.003906	0.012821	0.02632	461.33	45	chr12	63597906	.	C	A	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.16;MQRankSum=1.49;QD=10.25;ReadPosRankSum=-0.023;SOR=0.686	GT:AD:DP:GQ:PL	0/1:25,20:45:99:475,0,539	18	0	1	0
chr12	68689044	68689044	A	G	exonic	NUP107	.	nonsynonymous SNV	NUP107:NM_020401:exon2:c.A91G:p.R31G	Nephrotic syndrome, type 11, Autosomal recessive	433	1070	19	0	0	19	0.00880037	.	.	.	738850	not_provided|Inborn_genetic_diseases|NUP107-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0120659583715	0.0002	0.000599042	0.0012	9.639e-05	0.0007	0	0	0.0004	0.0011	0.0062	0.0009961	154	154602	rs201609471	0.0008	0.0008	0.0005	0.0010	0.0070	0.0007	0.0007	0.0065	0.0063	0.0002	0.0007	0	2.522e-05	0	0.0059	0.0004	0.0008	0.0070	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0003	0.0031	0.0026	0	0	0.0005	0	0	0	0.0034	0.0005	0.0014	0.0046	0.009	0.57480	D	0.015	0.61642	D	0.329	0.33227	B	0.084	0.29270	B	0.000067	0.52346	D	0.159341	0.998622	0.81001	D	2.045	0.56016	M	.	.	.	-1.12	0.28906	N	0.376	0.41754	-0.9360	0.43241	T	0.143	0.46532	T	8	0.006508976	0.00147	T	0.012066	0.30309	T	0.159	0.41286	.	.	0.593227656836	0.59000	0.3672479438675008	0.36638	0.567370400024	0.53003	0.445908606052	0.31386	T	0.106635	0.41815	T	-0.108621	0.34996	T	0.074086	0.75183	D	0.0291333165716293	0.01858	T	0.839616	0.51418	T	0.13411403	0.31171	0.14004716	0.33395	0.14781201	0.33774	0.106848486	0.25711	-5.741	0.44057	T	.	.	0.140	0.30739	B	.	.	3.066156	0.41192	21.3	0.99646759884601788	0.77005	0.89027	0.49252	D	AEFBI	0.483172	0.52372	N	-0.000954418380508387	0.41810	2.507712	0.115402858010678	0.45335	2.798545	0.999984303803045	0.51787	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.45	4.23	0.49319	3.228000	0.50971	6.667000	0.56266	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.8385:0.1615:0.0:0.0	10.569	0.44375	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.005051	0.004076	0.008772	0.000000	0.017241	0.009146	0.007576	0.05263	2264.81	81	chr12	68689044	.	A	G	2264.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.96;SOR=0.934	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2292,242,0	18	1	0	0
chr12	93894103	93894103	A	G	exonic	CRADD	.	nonsynonymous SNV	CRADD:NM_001320100:exon3:c.A352G:p.T118A	Mental retardation, autosomal recessive 34, with variant lissencephaly, Autosomal recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00215843763108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285831677	1.817e-06	1.59e-06	0	3.357e-06	3.155e-06	0	0	.	.	0	0	0	0	0	0	3.155e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.83	0.47815	T	0.88	0.01664	N	0.07	0.04307	-1.0384	0.17802	T	0.060	0.25163	T	8	0.04884252	0.04389	T	0.002158	0.04043	T	0.025	0.05312	0.302	0.27003	0.27064940482	0.26676	.	.	.	.	.	.	.	0.038616	0.24903	T	-0.37798	0.03208	T	-0.745321	0.03671	T	0.0450350987688131	0.04608	T	0.259474	0.04134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02285	B	.	.	-0.902451	0.00922	0.035	0.79461109928471862	0.12752	0.01229	0.04349	N	AEFBI	0.035360	0.04537	N	-1.26619077426735	0.04090	0.1839375	-1.37858084569129	0.03481	0.1624774	0.99576000236443	0.34306	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.39	-2.8	0.05477	-0.525000	0.06302	-0.158000	0.11351	-0.075000	0.16284	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3189:0.2746:0.243:0.1636	0.579	0.00663	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1081.33	65	chr12	93894103	.	A	G	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.888;SOR=0.671	GT:AD:DP:GQ:PL	0/1:22,43:65:99:1095,0,504	18	0	1	0
chr12	95995846	95995880	AGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	-	exonic	HAL	.	frameshift deletion	HAL:NM_001258334:exon2:c.31_65del:p.E11Hfs*17,HAL:NM_002108:exon2:c.31_65del:p.E11Hfs*17	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2230.79	122	chr12	95995845	.	GAGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	G	2230.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=785;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.14;SOR=0.717	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1795,0,2958	17	0	2	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05882	52.49	127	chr12	110628923	.	G	A	52.49	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.06;DP=1353;ExcessHet=0.119;FS=220.054;InbreedingCoeff=-0.0783;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=0.166;SOR=8.468	GT:AD:DP:GQ:PL	0/1:91,36:127:5:5,0,1174	15	0	2	2
chr12	120446678	120446678	G	A	exonic	GATC	.	nonsynonymous SNV	GATC:NM_176818:exon2:c.G103A:p.A35T	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0172572336915	7.7e-05	0.000199681	0.0001	0.0001	0.0003	0	0	0.0001	0	6.264e-05	0.0001035	16	154602	rs376375391	0.0001	0.0001	9.945e-05	0.0001	0.0007	9.476e-05	8.957e-05	0.0003	0.0003	0	0.0005	3.832e-05	0	0.0004	0.0007	8.726e-05	0.0001	5.802e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	9.229e-05	0.0005	0.0004	4.807e-05	0	0.0008	0	0	0.0003	0	0.0001	0	0	0.267	0.16198	T	0.364	0.16766	T	0.072	0.23997	B	0.042	0.24114	B	0.012561	0.29128	N	0.401624	1	0.08975	N	1.04	0.26193	L	0.84	0.47477	T	-0.33	0.12472	N	0.173	0.18512	-0.9754	0.36037	T	0.149	0.47487	T	10	0.037268877	0.02071	T	0.017257	0.38885	T	0.038	0.09825	.	.	0.393927044628	0.39002	0.25339250122555323	0.25253	0.543186546507	0.51402	0.416510879993	0.27357	T	0.011681	0.10383	T	-0.414408	0.01859	T	-0.485873	0.23824	T	0.0596446580116116	0.07112	T	0.342266	0.07430	T	0.046065364	0.07647	0.08918627	0.20842	0.046065364	0.07647	0.08918627	0.20841	-5.872	0.45195	T	0.1655725421914884	0.20534	0.077	0.06205	B	.	.	2.092474	0.26622	17.18	0.99460469103519011	0.65788	0.41264	0.26619	N	ALL	0.230382	0.35377	N	-0.376572678282414	0.26306	1.434693	-0.432488752422483	0.24049	1.314837	0.999999999973261	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.08	3.25	0.36363	3.663000	0.54256	3.030000	0.36038	-0.122000	0.13826	0.945000	0.32849	0.391000	0.24664	0.007000	0.07825	0.0:0.2774:0.7226:0.0	14.429	0.66812	615	0.66512	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1361.33	118	chr12	120446678	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=821;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.758;SOR=0.79	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1375,0,1582	18	0	1	0
chr12	121274159	121274159	C	T	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon1:c.G368A:p.C123Y,CAMKK2:NM_001270485:exon2:c.G368A:p.C123Y,CAMKK2:NM_006549:exon2:c.G368A:p.C123Y,CAMKK2:NM_153499:exon2:c.G368A:p.C123Y,CAMKK2:NM_153500:exon2:c.G368A:p.C123Y,CAMKK2:NM_172214:exon2:c.G368A:p.C123Y,CAMKK2:NM_172215:exon2:c.G368A:p.C123Y,CAMKK2:NM_172216:exon2:c.G368A:p.C123Y,CAMKK2:NM_172226:exon2:c.G368A:p.C123Y	.	403	1085	33	1	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0081	0.00858626	0.0148	0.0021	0.0093	0.0012	0.0228	0.0154	0.0241	0.0316	0.0094436	1460	154602	rs35403710	0.0097	0.0097	0.0096	0.0099	0.0161	0.0096	0.0095	0.0154	0.0151	0.0019	0.0041	0.0096	0.0004	0.0123	0.0146	0.0099	0.0092	0.0161	0.0083	0.0083	0.0079	0.0087	0.0156	0.0079	0.0078	0.0127	0.0117	0.0019	0.0593	0.0068	0.0107	0.0014	0.0145	0.0308	0.0107	0.0095	0.0156	1.0	0.14064	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.073513	0.21342	N	0.513997	0.915977	0.27403	N	0	0.06538	N	-0.6	0.71662	T	2.64	0.10656	N	0.088	0.11769	-0.9951	0.31272	T	0.061	0.25383	T	10	0.0040839314	0.00080	T	.	.	.	0.082	0.23913	.	.	0.176862962021	0.17281	0.43557359236685883	0.43474	0.621552758047	0.56441	0.368951529264	0.20682	T	0.093184	0.39159	T	-0.503794	0.00544	T	-0.482162	0.24216	T	0.000768810310415796	0.00007	T	0.79742	0.44372	T	0.021128068	0.00700	0.048166234	0.07098	0.021128068	0.00700	0.048166234	0.07097	-5.457	0.42370	T	.	.	0.073	0.05491	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.374368	0.02310	0.245	0.37119601189109436	0.02427	0.20043	0.20893	N	AEFDBI	0.080568	0.16291	N	-1.29796890440581	0.03700	0.165763	-1.19460728582447	0.05999	0.2874759	0.340445358134234	0.19578	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.93	-0.258	0.12334	1.178000	0.31590	-0.630000	0.08130	-0.181000	0.10308	0.997000	0.40164	0.000000	0.08366	0.108000	0.18652	0.0:0.2583:0.1488:0.5929	4.887	0.13063	541	0.72942	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013636	0.005102	0.016304	0.014620	0.000000	0.034483	0.012270	0.011364	0.05263	2389.83	78	chr12	121274159	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.058;DP=790;ExcessHet=0.119;FS=6.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.78;SOR=1.176	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1103,0,990	17	0	2	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V,LRRC43:NM_152759:exon5:c.A256G:p.I86V	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.040936	0.000000	0.025862	0.009146	0.000000	0.02632	1988.33	192	chr12	122190278	.	A	G	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.122;DP=900;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.58;SOR=0.781	GT:AD:DP:GQ:PL	0/1:97,95:192:99:2002,0,2354	18	0	1	0
chr13	19751378	19751378	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354908:exon4:c.A860G:p.K287R,PSPC1:NM_001354909:exon4:c.A860G:p.K287R,PSPC1:NM_001363660:exon4:c.A860G:p.K287R,PSPC1:NM_001042414:exon5:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00944355419823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.857e-06	6.841e-06	4.143e-06	5.578e-06	1.216e-05	2.02e-06	1.3e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	1.216e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.218	0.26066	T	0.106	0.26037	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.035	0.55589	M	2.08	0.20255	T	-2.03	0.46673	N	0.175	0.31478	-1.1105	0.03027	T	0.054	0.22808	T	10	0.13762301	0.26179	T	0.009444	0.24739	T	0.105	0.29889	0.33	0.31519	0.223474106383	0.21959	0.44563922704505576	0.44481	0.855388780065	0.68728	0.786740779877	0.79946	T	0.091746	0.38860	T	-0.185379	0.22939	T	-0.50406	0.21926	T	0.640917122364044	0.38076	D	0.927007	0.73102	D	0.48643845	0.66290	0.39524958	0.64197	0.48643845	0.66290	0.39524958	0.64197	-7.799	0.59692	D	.	.	0.109	0.20819	B	.;.	.;.	4.145155	0.62139	24.4	0.99827420761190333	0.90939	0.92748	0.56449	D	AEFGBI	0.462400	0.51176	N	0.00668313770960222	0.42159	2.534945	0.146047658156862	0.46932	2.931338	0.915974049894729	0.26499	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.209000	0.58291	7.808000	0.69345	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.705	0.68796	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2863.83	114	chr13	19751378	.	T	C	2863.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.935;DP=812;ExcessHet=0.119;FS=1.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=0.555;QD=13.57;ReadPosRankSum=1.51;SOR=0.74	GT:AD:DP:GQ:PL	0/1:42,70:114:99:1673,0,1041	17	0	2	0
chr13	24223693	24223693	C	T	exonic	SPATA13	.	nonsynonymous SNV	SPATA13:NM_001166271:exon2:c.C764T:p.T255M,SPATA13:NM_001286792:exon4:c.C950T:p.T317M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.426345411448	0.0002	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377364615	4.072e-05	3.899e-05	3.101e-05	5.07e-05	0.0004	3.182e-05	2.906e-05	6.155e-05	3.007e-05	0.0001	5.601e-05	0	0	0	0.0004	4.356e-05	3.44e-05	0	9.854e-05	9.85e-05	0.0001	8.068e-05	0.0001	6.005e-05	4.879e-05	5.842e-05	4.239e-05	0.0001	0	6.54e-05	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	.	.	.	.	.	.	0.343235	0.13930	U	0.532192	1	0.81001	D	.	.	.	-0.96	0.75553	T	-1.58	0.38151	N	0.136	0.14905	-0.6518	0.62636	T	0.291	0.66316	T	8	0.21636131	0.38216	T	0.426345	0.93894	D	0.134	0.36365	.	.	0.450867454232	0.44710	0.23915650155462584	0.23829	0.978654125277	0.73649	0.394106149673	0.24246	T	.	.	.	-0.271923	0.11543	T	-0.380066	0.35715	T	0.638796091079712	0.37986	D	0.824218	0.48580	T	.	.	.	.	.	.	.	.	-3.015	0.10343	T	.	.	0.138	0.30076	B	.;.	.;.	2.956746	0.39359	20.9	0.99732369772062612	0.82833	0.76667	0.37619	D	AEFDBCI	0.309275	0.41563	N	-0.190637974198	0.33523	1.902849	-0.218918959768178	0.30858	1.741117	0.999993438378002	0.74766	0.615465	0.37627	0	0.541556	0.11502	0	0.663124	0.60104	0	0.655142	0.61905	0	.	.	4.78	2.94	0.33188	3.816000	0.55363	1.650000	0.27840	0.545000	0.25583	0.998000	0.41325	0.921000	0.28324	0.044000	0.14658	0.0:0.7538:0.1578:0.0884	8.317	0.31269	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	.	.	.	.	.	.	.	.	0.02632	3829.33	311	chr13	24223693	.	C	T	3829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=1423;ExcessHet=0;FS=7.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.829;SOR=0.717	GT:AD:DP:GQ:PL	0/1:162,149:311:99:3843,0,3941	18	0	1	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,78:262:99:0|1:25097005_A_G:2721,0,7491:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,78:262:99:0|1:25097005_A_G:2721,0,7491:25097005	7	0	12	0
chr13	29480261	29480261	A	C	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_015233:exon3:c.A233C:p.E78A,MTUS2:NM_001366651:exon9:c.A3098C:p.E1033A,MTUS2:NM_001384606:exon9:c.A3296C:p.E1099A,MTUS2:NM_001033602:exon10:c.A3296C:p.E1099A,MTUS2:NM_001366650:exon10:c.A3293C:p.E1098A,MTUS2:NM_001384605:exon10:c.A3296C:p.E1099A	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00893139552029	.	.	5.299e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs774928642	1.427e-06	1.368e-06	1.408e-06	1.446e-06	1.26e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.723e-05	1.26e-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	0.319	0.13610	T	0.674	0.10103	T	0.0	0.02946	B	0.001	0.04355	B	0.047340	0.23355	N	0.504604	0.999998	0.58761	D	.	.	.	2.16	0.19166	T	-2.76	0.58569	D	0.13	0.12484	-1.0371	0.18202	T	0.024	0.10239	T	9	0.039180964	0.02390	T	0.008931	0.23535	T	0.058	0.16647	.	.	0.0401082797425	0.02173	.	.	.	.	0.311494827271	0.12133	T	.	.	.	-0.42871	0.01509	T	-0.657954	0.08405	T	0.0840658098459244	0.10498	T	0.787021	0.49191	T	.	.	.	.	.	.	.	.	-6.75	0.52186	T	.	.	0.061	0.01161	B	.;.	.;.	1.720693	0.21908	15.40	0.97535246895348426	0.34480	0.11664	0.16782	N	AEFDBHCI	0.061174	0.11677	N	-0.526074299390009	0.21239	1.125747	-0.354277375010702	0.26377	1.456543	0.999998268384583	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.44	4.24	0.49486	0.520000	0.22586	4.166000	0.42242	0.756000	0.94297	0.078000	0.22289	1.000000	0.68203	0.992000	0.67800	0.5062:0.3654:0.0:0.1283	6.869	0.23289	950	0.11238	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2049.81	72	chr13	29480261	.	A	C	2049.81	.	AC=2;AF=0.053;AN=38;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.47;SOR=1.483	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2077,216,0	18	1	0	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:136,81:229:99:206,0,2189	6	0	12	1
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,49:132:99:.:.:334,0,2044:.	3	0	15	1
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:98,41:154:18:18,0,1304	6	0	13	0
chr13	110880097	110880099	CTA	-	exonic	ANKRD10	.	nonframeshift deletion	ANKRD10:NM_017664:exon6:c.801_803del:p.S269del	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	2.602e-05	0	0	0	0	4.687e-05	0	0	1.94e-05	3	154602	rs756283083	4.313e-05	4.309e-05	4.63e-05	3.992e-05	5.041e-05	3.445e-05	3.131e-05	3.98e-05	3.577e-05	0	2.236e-05	0	5.041e-05	0	0	5.04e-05	1.657e-05	3.479e-05	3.943e-05	3.94e-05	3.855e-05	4.035e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2396.77	56	chr13	110880096	.	GCTA	G	2396.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.396;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=30.96;ReadPosRankSum=1.49;SOR=0.869	GT:AD:DP:GQ:PL	1/1:1,55:56:99:2424,124,0	18	1	0	0
chr13	112547535	112547535	T	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1352.82	264	chr13	112547535	.	T	*	1352.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.645;DP=2091;ExcessHet=0.1504;FS=0.529;InbreedingCoeff=0.2083;MLEAC=5;MLEAF=0.132;MQ=59.9;MQRankSum=1.43;QD=1.19;ReadPosRankSum=-1.701;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,264:264:99:1|1:112547505_C_T:11529,794,0:112547505	15	1	3	0
chr13	112547538	112547553	ATGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	18480.0	264	chr13	112547538	.	ATGGGAAAGTCGCGCG	*	18480.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=5;MLEAF=0.132;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,264:264:99:1|1:112547505_C_T:11529,794,0:112547505	15	1	3	0
chr14	18967563	18967573	GTGGTGCCGCC	-	exonic	POTEM	.	frameshift deletion	POTEM:NM_001145442:exon1:c.78_88del:p.W27Lfs*21	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0009	0.0006	0.0009	0.0038	0.0007	0.0007	0.0035	0.0033	0.0005	0.0006	0.0007	0.0017	0.0009	0.0016	0.0004	0.0008	0.0038	6.998e-05	5.652e-05	8.926e-05	4.887e-05	0.0003	3.01e-05	2.048e-05	1.812e-05	7.4e-06	0.0001	0	0	0	0.0003	0.0002	0	4.896e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	285.3	79	chr14	18967562	.	AGTGGTGCCGCC	A	285.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.194;DP=950;ExcessHet=0;FS=11.254;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=27.17;MQRankSum=0.488;QD=3.61;ReadPosRankSum=-1.398;SOR=0.039	GT:AD:DP:GQ:PL	0/1:61,18:79:99:299,0,2003	18	0	1	0
chr14	23277121	23277121	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon2:c.G107A:p.S36N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00698164053588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.287	0.22694	T	0.0	0.02946	B	0.002	0.06944	B	0.000094	0.51296	D	0.171585	0.983936	0.24843	N	0.975	0.24501	L	1.63	0.28002	T	-0.27	0.14782	N	0.254	0.28732	-1.0480	0.14960	T	0.047	0.20275	T	10	0.121350974	0.23002	T	0.006982	0.18485	T	0.031	0.07369	0.19	0.10039	0.259272394797	0.25527	0.2679277317043338	0.26705	0.354932647946	0.37257	0.376159489155	0.21712	T	0.00622	0.05657	T	-0.238617	0.15525	T	-0.580533	0.14497	T	0.362544864416122	0.27508	T	0.786321	0.42483	T	0.079428785	0.18147	0.11575161	0.27944	0.079428785	0.18146	0.11575161	0.27943	-5.372	0.40650	T	.	.	0.121	0.40081	B	.;.	.;.	2.913562	0.38653	20.8	0.9878968615127024	0.46269	0.80812	0.40355	D	AEFDBI	.	.	.	-0.274817099345431	0.30124	1.676797	-0.0933578211430236	0.35664	2.066013	0.990931394832595	0.32317	0.706548	0.73137	0	0.633656	0.55848	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	5.95	4.13	0.47661	3.740000	0.54802	2.611000	0.33577	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.7615:0.161:0.0776	9.303	0.37020	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2033.33	149	chr14	23277121	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=885;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.263;SOR=0.96	GT:AD:DP:GQ:PL	0/1:75,74:149:99:2047,0,1967	18	0	1	0
chr14	35308030	35308030	C	T	exonic	PSMA6	.	nonsynonymous SNV	PSMA6:NM_001282234:exon2:c.C56T:p.T19I,PSMA6:NM_002791:exon2:c.C113T:p.T38I	.	.	.	.	.	.	.	.	.	.	.	3471863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.0390196213994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.83351	D	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	1.14	0.38397	T	-5.59	0.88224	D	0.936	0.94668	0.055	0.83342	D	0.380	0.73722	T	10	0.9174087	0.91100	D	0.03902	0.58564	D	0.734	0.90721	0.776	0.90157	0.822550958182	0.82087	0.9844123319833955	0.98434	3.52078213034	0.99770	0.839901328087	0.88079	D	0.094501	0.67549	T	0.321137	0.84553	D	0.223515	0.84352	D	0.997586250305176	0.91913	D	0.972203	0.90064	D	0.7592188	0.81407	0.6303677	0.78439	0.7592188	0.81408	0.6303677	0.78439	-9.586	0.78066	D	.	.	0.976	0.91860	P	.;.;.;.;.	.;.;.;.;.	5.299584	0.88975	29.8	0.99888927126763349	0.96359	0.98719	0.85981	D	AEFBI	0.952546	0.96810	D	1.05568671361181	0.97222	15.77585	0.965534761015794	0.97841	16.87474	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.902000	0.86082	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.625	0.95670	476	0.77720	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	856.33	76	chr14	35308030	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.8;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.507;SOR=0.8	GT:AD:DP:GQ:PL	0/1:38,38:76:99:870,0,914	18	0	1	0
chr14	37591894	37591894	G	A	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.C890T:p.P297L	.	235	1282	4	1	0	6	0.00233463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.803262806103	.	0.000399361	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs577631417	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	3.515e-05	4.722e-05	0.0002	0	0	0.0016	0.0002	0.0004	0.0013	0.0001	0.0001	8.992e-05	0.0001	0.0021	7.572e-05	6.278e-05	0.0011	0.0009	2.405e-05	0	0.0002	0	0	0	0	5.882e-05	0	0.0021	0.311	0.13971	T	0.336	0.18232	T	0.002	0.09854	B	0.005	0.11217	B	0.006258	0.32164	N	0.290150	0.998372	0.44834	D	1.04	0.26193	L	-3.15	0.92938	D	-2.2	0.49519	N	0.065	0.03726	-0.1300	0.79401	T	0.563	0.84096	D	10	0.03696215	0.02022	T	0.803263	0.98462	D	0.217	0.51112	0.224	0.14813	0.79297248663	0.79104	0.42471586155736685	0.42388	.	.	0.797935724258	0.81649	T	0.550301	0.84761	D	-0.39596	0.02461	T	-0.354776	0.38658	T	0.0161845025318414	0.00393	T	0.713629	0.32527	T	0.089708164	0.20969	0.111017354	0.26774	0.089708164	0.20969	0.111017354	0.26774	-3.372	0.14682	T	.	.	0.083	0.09045	B	.	.	3.208806	0.43669	21.8	0.97608042410479678	0.34887	0.86030	0.45237	D	AEFDBHCI	0.406952	0.47923	N	-0.302987328385038	0.29035	1.606557	-0.124845755282731	0.34391	1.977748	0.999999999087286	0.74766	0.582742	0.33608	0	0.573888	0.26702	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.06	4.06	0.46572	0.757000	0.26098	9.859000	0.82043	0.565000	0.28586	0.961000	0.33663	1.000000	0.68203	0.883000	0.42306	0.1053:0.0:0.8947:0.0	9.053	0.35551	648	0.63242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003731	0.000000	0.001462	0.003012	0.000000	0.000000	0.012987	0.000000	0.02632	1146.33	79	chr14	37591894	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=769;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.654;SOR=0.777	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1160,0,840	18	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y,DNAAF2:NM_018139:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	0	1439	78	5	0	88	0.0296696	.	.	.	222368	not_specified|Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 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	0.012097	0.000000	0.012228	0.005848	0.000000	0.008621	0.021472	0.034091	0.02632	1106.33	111	chr14	49633744	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=919;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.733;SOR=0.687	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1120,0,1541	18	0	1	0
chr14	52028821	52028821	G	A	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.C2431T:p.R811C	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0553528363534	7.7e-05	0.000998403	0.0007	9.614e-05	8.643e-05	0	0	8.994e-05	0	0.0049	0.000608	94	154602	rs142228436	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	5.976e-05	4.477e-05	0	0	0	0.0003	2.788e-05	0.0003	0.0050	0.0002	0.0002	7.712e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	6.537e-05	0	0	0	0	5.88e-05	0	0.0054	0.18	0.21968	T	0.115	0.42976	T	0.981	0.59675	D	0.513	0.47989	P	0.191899	0.16825	N	0.663930	1	0.08975	N	1.45	0.36711	L	-2.27	0.87433	D	-2.84	0.59873	D	0.444	0.48227	-1.0239	0.22443	T	0.112	0.40099	T	10	0.015612453	0.00328	T	0.055353	0.66203	D	0.436	0.74093	.	.	0.72890070338	0.72649	0.49063320400771254	0.48983	0.466582886664	0.46057	0.210106372833	0.00816	T	0.295631	0.66828	T	-0.262861	0.12567	T	-0.150228	0.59223	T	0.0851079537451219	0.10628	T	0.415458	0.10884	T	0.08773219	0.20442	0.07748207	0.17264	0.08773219	0.20441	0.07748207	0.17264	-10.532	0.77031	D	.	.	0.189	0.48050	B	.;.	.;.	4.587865	0.72538	25.8	0.99730430361464295	0.82690	0.17244	0.19752	N	AEFBI	0.206275	0.33255	N	-0.384665430302689	0.26014	1.416588	-0.403764150508429	0.24886	1.36534	0.999986028267624	0.51787	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	4.08	0.46880	2.018000	0.40610	6.070000	0.53248	-0.111000	0.15049	0.151000	0.23669	0.996000	0.32793	0.967000	0.53440	0.0719:0.0:0.7906:0.1375	10.104	0.41692	899	0.25060	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1384.33	121	chr14	52028821	.	G	A	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.891;SOR=0.641	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1398,0,1591	18	0	1	0
chr14	52864465	52864465	G	A	exonic	FERMT2	.	nonsynonymous SNV	FERMT2:NM_001134999:exon12:c.C1538T:p.T513M,FERMT2:NM_001135000:exon12:c.C1538T:p.T513M,FERMT2:NM_006832:exon12:c.C1538T:p.T513M	.	429	1078	14	1	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0156507494034	0.0029	0.00199681	0.0025	0.0005	0.0016	0.0012	0.0005	0.0035	0.0044	0.0015	0.0025873	400	154602	rs79804050	0.0028	0.0028	0.0028	0.0029	0.0066	0.0028	0.0027	0.0049	0.0044	0.0006	0.0022	0.0015	0.0010	0.0007	0.0066	0.0032	0.0022	0.0016	0.0022	0.0023	0.0024	0.0021	0.0039	0.0021	0.0020	0.0035	0.0034	0.0005	0	0.0022	0.0006	0.0004	0.0006	0.0102	0.0039	0.0019	0.0006	0.081	0.34444	T	0.044	0.49663	D	0.879	0.48338	P	0.735	0.55480	P	0.000001	0.84330	D	0.096130	0.998729	0.45339	D	1.445	0.36358	L	0.88	0.46028	T	-1.49	0.38924	N	0.25	0.33469	-1.0792	0.07504	T	0.100	0.37239	T	10	0.007977009	0.00181	T	0.015651	0.36500	T	0.071	0.20720	.	.	0.275349458131	0.27150	0.3569833315123435	0.35612	0.417717680822	0.42384	0.624074220657	0.56304	T	0.359994	0.72630	T	-0.421402	0.01676	T	-0.378236	0.35930	T	0.00987061957650193	0.00131	T	0.984801	0.94749	D	0.079270944	0.18101	0.12916058	0.31062	0.079270944	0.18101	0.12916058	0.31061	-5.489	0.41765	T	.	.	0.087	0.17488	B	.;.;.;.;.;.	.;.;.;.;.;.	4.614657	0.73217	26.0	0.99830713014182548	0.91284	0.93959	0.59690	D	AEFDBI	0.581951	0.58176	D	0.376994047818518	0.60176	4.203887	0.467686577383209	0.65859	4.877491	0.999999978870604	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	3.249000	0.51138	9.983000	0.82936	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.7373:0.2627	14.199	0.65232	782	0.47442	FERM central domain|Band 4.1 domain;FERM central domain|Band 4.1 domain;FERM central domain|Band 4.1 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	0.006546	0.000000	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.02632	2005.33	134	chr14	52864465	.	G	A	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.036;SOR=0.757	GT:AD:DP:GQ:PL	0/1:57,77:134:99:2019,0,1196	18	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	243.02	158	chr14	58138194	.	A	G	243.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.789;DP=1733;ExcessHet=0.119;FS=120.485;InbreedingCoeff=-0.0615;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.03;SOR=9.869	GT:AD:DP:GQ:PL	0/1:130,28:158:26:26,0,3048	17	0	2	0
chr14	60469597	60469597	T	C	exonic	C14orf39	.	nonsynonymous SNV	C14orf39:NM_174978:exon8:c.A611G:p.K204R	.	813	707	2	0	0	2	0.00141243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00299521	0.0011	0	0	0.0001	0	4.803e-05	0.0012	0.0078	0.0009185	142	154602	rs535593448	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.704e-05	0	0.0017	2.452e-05	0.0004	0.0060	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0093	0.277	0.15665	T	0.61	0.07691	T	.	.	.	.	.	.	0.303803	0.14551	N	0.639362	0.99998	0.18612	N	.	.	.	1.84	0.24656	T	-0.8	0.22078	N	0.147	0.14905	-1.0276	0.21233	T	0.058	0.24204	T	10	0.004374087	0.00089	T	.	.	.	0.026	0.05648	0.218	0.13932	0.0762999501168	0.06990	0.03250415823271137	0.03198	0.0859514511941	0.09713	.	.	.	.	.	.	-0.612222	0.00123	T	-0.648884	0.09033	T	0.0460502777079839	0.04793	T	0.428457	0.11587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	1.962774	0.24933	16.58	0.98279435026145434	0.39842	0.45258	0.27498	N	AEFBI	0.084526	0.17131	N	-0.312882700716832	0.28658	1.582536	-0.226818007944013	0.30580	1.722975	1.30623734306304E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	1.02	0.19102	1.340000	0.33501	0.291000	0.16873	0.603000	0.45986	0.986000	0.36153	0.978000	0.30204	0.979000	0.57723	0.0:0.3639:0.0:0.6361	7.649	0.27501	299	0.88026	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	245.33	24	chr14	60469597	.	T	C	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.133;DP=629;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.492;SOR=0.85	GT:AD:DP:GQ:PL	0/1:12,12:24:99:259,0,264	18	0	1	0
chr14	63991060	63991060	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon21:c.C2591T:p.A864V,SYNE2:NM_182914:exon21:c.C2591T:p.A864V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1989694	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_specified	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.029585485916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007865427	2.189e-05	2.189e-05	2.586e-05	1.788e-05	0.0012	1.584e-05	1.356e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	1.799e-05	4.968e-05	1.159e-05	3.286e-05	3.284e-05	5.14e-05	1.345e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0.0032	2.94e-05	0.0005	0	0.002	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000084	0.51296	D	0.000000	0.869525	0.81001	D	1.975	0.53506	M	0.3	0.62918	T	-2.95	0.62976	D	0.252	0.49328	-0.4202	0.71386	T	0.383	0.73951	T	10	0.29099882	0.46679	T	0.029585	0.52069	D	0.281	0.59861	0.493	0.58048	0.616972202741	0.61387	0.3664109266217865	0.36555	0.324672297079	0.34622	0.464220046997	0.33889	T	0.143058	0.78644	T	-0.107011	0.35262	T	-0.209962	0.53700	T	0.394676598073557	0.28742	T	0.822018	0.48145	T	0.32076213	0.54704	0.30596173	0.56622	0.32076213	0.54704	0.30596173	0.56621	-4.38	0.29285	T	.	.	0.207	0.43297	B	.;.;.;.	.;.;.;.	2.605690	0.33832	19.46	0.93237411529437686	0.22921	0.89737	0.50396	D	AEFGBI	0.305057	0.41258	N	0.565615471085482	0.71036	5.59053	0.54312424887088	0.70920	5.576793	0.999992321678495	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	3.363000	0.52044	5.815000	0.50038	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.448000	0.27851	0.0:1.0:0.0:0.0	16.121	0.81166	686	0.59327	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001362	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	615.33	61	chr14	63991060	.	C	T	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.202;SOR=0.76	GT:AD:DP:GQ:PL	0/1:31,30:61:99:629,0,711	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,36:148:99:.:.:221,0,2022:.	2	0	15	2
chr14	71028736	71028736	T	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon14:c.T3170C:p.I1057T,PCNX1:NM_014982:exon16:c.T3503C:p.I1168T	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0143751284994	0.0003	0.000399361	0.0001	0.0011	0.0002	0	0	4.505e-05	0.0011	0	0.0001294	20	154602	rs139378708	7.209e-05	7.319e-05	8.472e-05	5.933e-05	0.0013	6.069e-05	5.615e-05	0.0010	0.0009	0.0013	0.0002	0	0	0	0.0002	2.794e-05	0.0003	0	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0011	0.0009	0.0011	0	0.0016	0	0	0	0	2.944e-05	0.0009	0	0.506	0.07594	T	0.411	0.14865	T	0.181	0.29111	B	0.031	0.21939	B	0.007534	0.31343	N	0.343346	0.992349	0.41620	D	0.805	0.20218	L	3.37	0.09822	T	-1.07	0.30964	N	0.798	0.79406	-1.0158	0.25078	T	0.125	0.42903	T	10	0.048135787	0.04225	T	0.014375	0.34458	T	0.196	0.47777	.	.	0.043077524339	0.03247	0.3558026994147007	0.35494	0.149359585113	0.16842	0.706272721291	0.68053	T	0.053752	0.29532	T	-0.401806	0.02253	T	-0.37457	0.36355	T	0.0157993310021552	0.00369	T	0.882612	0.60317	D	0.059194796	0.12002	0.048440233	0.07194	0.059194796	0.12001	0.048440233	0.07193	-5.713	0.43809	T	.	.	0.135	0.29394	B	.;.	.;.	3.314638	0.45555	22.2	0.95951471579478731	0.28272	0.97976	0.78572	D	AEFBI	0.589436	0.58632	D	-0.0215436749306175	0.40883	2.435518	0.0181194188425605	0.40557	2.422297	0.999998704212094	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	4.14	0.47821	5.487000	0.66584	5.038000	0.46886	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.0722:0.0:0.9278	11.248	0.48240	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	815.33	67	chr14	71028736	.	T	C	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=703;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.862;SOR=1.126	GT:AD:DP:GQ:PL	0/1:31,36:67:99:829,0,651	18	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	0.02632	1910.33	181	chr14	73491733	.	A	G	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.384;DP=1680;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.004;SOR=0.541	GT:AD:DP:GQ:PL	0/1:88,93:181:99:1924,0,2143	18	0	1	0
chr14	73506550	73506550	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon9:c.G1903A:p.A635T,HEATR4:NM_001220484:exon10:c.G1903A:p.A635T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00734494284573	0.0013	0.000599042	0.0018	0.0003	0.0003	0	0.0024	0.0029	0.0033	6.066e-05	0.0016947	262	154602	rs143649458	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0002	0.0009	7.654e-05	0	0.0024	0.0010	0.0020	0.0016	9.275e-05	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0005	0	0	0.0021	0	0.0017	0.0024	0.0004	0.065	0.36310	T	0.014	0.62352	D	0.999	0.77913	D	0.894	0.63417	P	0.000805	0.41658	D	0.107337	0.989837	0.41032	D	2.455	0.71248	M	2.69	0.12268	T	-2.43	0.53258	N	0.58	0.60156	-1.2046	0.00118	T	0.085	0.33014	T	10	0.021914065	0.00535	T	0.007345	0.19469	T	0.238	0.54217	.	.	0.471539375507	0.46780	0.1422974624417757	0.14152	0.54086972001	0.51271	0.516801416874	0.41176	T	0.057243	0.30512	T	-0.417963	0.01763	T	-0.378699	0.35875	T	0.0523647673276156	0.05910	T	0.783622	0.42065	T	0.07622875	0.17225	0.14685965	0.34776	0.07622875	0.17225	0.14685965	0.34776	-7.761	0.59430	D	.	.	0.42	0.61275	A	.;.	.;.	4.445795	0.69071	25.3	0.99922912428495447	0.98852	0.95375	0.64475	D	AEFI	0.594582	0.58946	D	0.686230284028107	0.78731	6.930849	0.693970903894414	0.81921	7.640984	0.999999967223625	0.74766	0.716115	0.82089	0	0.588066	0.40923	0	0.640751	0.46059	0	0.76194	0.99817	0	.	.	6.16	6.16	0.99302	4.739000	0.61776	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:1.0:0.0:0.0	19.631	0.95699	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1567.33	128	chr14	73506550	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=747;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.555;SOR=0.843	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1581,0,1414	18	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	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:131,58:207:47:47,0,1934	10	0	9	0
chr14	92117583	92117583	T	A	exonic	NDUFB1	.	nonsynonymous SNV	NDUFB1:NM_004545:exon2:c.A55T:p.M19L	.	457	1061	4	0	0	4	0.00188147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0124098983153	0.0037	0.00159744	0.0039	0.0006	0.0016	0	0.0032	0.0064	0.0055	0	0.0039068	604	154602	rs149760197	0.0041	0.0041	0.0042	0.0040	0.0050	0.0041	0.0040	0.0049	0.0049	0.0006	0.0020	0.0009	2.519e-05	0.0035	0.0007	0.0050	0.0025	8.115e-05	0.0033	0.0033	0.0035	0.0031	0.0057	0.0030	0.0029	0.0052	0.0050	0.0009	0	0.0027	0.0009	0	0.0023	0	0.0057	0.0024	0	0.236	0.17940	T	0.862	0.18232	T	0.004	0.12183	B	0.006	0.12133	B	0.000269	0.46590	N	0.174294	0.996486	0.23000	N	.	.	.	-0.44	0.69777	T	-0.6	0.17834	N	0.163	0.18239	-1.0582	0.12209	T	0.086	0.33438	T	9	0.01132524	0.00248	T	0.01241	0.30958	T	0.343	0.66488	0.551	0.66716	0.593256499266	0.59003	0.2670279460835357	0.26615	0.390474098581	0.40258	0.216405048966	0.01113	T	0.006074	0.05507	T	-0.280646	0.10599	T	-0.170214	0.57423	T	0.00209103707594122	0.00022	T	0.671533	0.28021	T	0.06893576	0.15061	0.04982038	0.07692	0.06893576	0.15061	0.04982038	0.07692	-1.656	0.02226	T	.	.	0.110	0.32969	B	.;.;.;.;.	.;.;.;.;.	-1.651828	0.00215	0.003	0.65147270593842732	0.07691	0.10524	0.16007	N	AEFBI	0.165760	0.29228	N	-1.11837892776667	0.06316	0.2904216	-1.12571581053914	0.07212	0.3499375	0.993613908571874	0.33285	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.18	-2.0	0.07024	-1.755000	0.01913	-4.726000	0.02014	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.235:0.3716:0.0:0.3935	4.960	0.13411	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	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1596.33	138	chr14	92117583	.	T	A	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1610,0,1547	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:72,19:91:99:186,0,2230	1	0	17	1
chr14	94497803	94497803	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595A:p.G199S,SERPINA12:NM_001382267:exon2:c.G595A:p.G199S,SERPINA12:NM_173850:exon3:c.G595A:p.G199S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0220697038607	.	.	1.657e-05	0	8.655e-05	0	0	0	0	6.138e-05	1.29e-05	2	154602	rs780543581	9.599e-06	1.094e-05	1.091e-05	8.274e-06	4.535e-05	5.57e-06	4.36e-06	9.28e-06	4.57e-06	3.007e-05	4.535e-05	0	0	1.874e-05	0	4.504e-06	3.32e-05	3.494e-05	6.596e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.536	0.06891	T	0.763	0.04587	T	0.061	0.23190	B	0.032	0.22131	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.55	0.14455	N	-2.22	0.87038	D	-1.26	0.31778	N	0.059	0.03069	-0.8314	0.53211	T	0.312	0.68201	T	10	0.03345543	0.01523	T	0.02207	0.44919	T	0.086	0.25016	0.407	0.44066	0.203808441222	0.19973	0.5860574252687961	0.58535	0.0946809584513	0.10693	0.310091733932	0.11920	T	0.033973	0.23133	T	-0.299241	0.08733	T	-0.491769	0.23205	T	0.183420419692993	0.19449	T	0.660634	0.26999	T	0.23565502	0.46404	0.11694767	0.28232	0.23565502	0.46404	0.11694767	0.28231	-0.874	0.00870	T	.	.	0.141	0.32992	B	.;.	.;.	2.120086	0.26987	17.31	0.94329901930839288	0.24663	0.08570	0.14481	N	AEFCI	0.083475	0.16912	N	-0.926895484479263	0.10216	0.4871546	-0.853360606231547	0.13207	0.6838647	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	193.43	89	chr14	94497803	.	C	T	193.43	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.99;DP=1470;ExcessHet=0.119;FS=107.338;InbreedingCoeff=-0.1231;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.736;SOR=6.735	GT:AD:DP:GQ:PL	0/1:72,8:89:60:60,0,2241	13	0	2	4
chr14	102326382	102326382	T	C	exonic	ZNF839	.	nonsynonymous SNV	ZNF839:NM_001267827:exon2:c.T338C:p.I113T,ZNF839:NM_001385065:exon2:c.T686C:p.I229T,ZNF839:NM_001385070:exon2:c.T338C:p.I113T,ZNF839:NM_001385071:exon2:c.T338C:p.I113T,ZNF839:NM_001385072:exon2:c.T686C:p.I229T,ZNF839:NM_001385073:exon2:c.T686C:p.I229T,ZNF839:NM_001385074:exon2:c.T338C:p.I113T,ZNF839:NM_001385076:exon2:c.T338C:p.I113T,ZNF839:NM_018335:exon2:c.T686C:p.I229T,ZNF839:NM_001267828:exon3:c.T338C:p.I113T,ZNF839:NM_001385069:exon3:c.T338C:p.I113T,ZNF839:NM_001385075:exon3:c.T338C:p.I113T	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0181485186241	.	.	9.465e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs772005857	1.37e-06	1.368e-06	2.726e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.009	0.67890	D	0.143	0.28271	B	0.09	0.29851	B	0.076710	0.21147	U	0.192246	1	0.08975	N	2.43	0.70455	M	0.84	0.47477	T	-2.65	0.56787	D	0.056	0.02861	-0.9989	0.30227	T	0.094	0.35551	T	10	0.07065627	0.10310	T	0.018149	0.40116	T	0.022	0.04323	0.227	0.15257	0.295974979623	0.29207	0.07727245548258345	0.07663	0.324340639532	0.34596	0.367437034845	0.20463	T	0.001506	0.00951	T	-0.245652	0.14635	T	-0.590639	0.13610	T	0.226521015167236	0.21785	T	0.477152	0.14354	T	0.17207143	0.37877	0.11258699	0.27166	0.17207143	0.37876	0.11258699	0.27165	-4.279	0.27881	T	.	.	0.241	0.47503	B	.;.;.	.;.;.	1.775665	0.22581	15.68	0.85764270949409194	0.16098	0.07348	0.13369	N	AEBI	0.026048	0.01890	N	-0.754161888844775	0.14520	0.7239864	-0.79561733233016	0.14602	0.7638305	0.994329241207368	0.33586	0.634777	0.41761	0	0.643519	0.57511	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.08	2.75	0.31439	0.591000	0.23670	0.964000	0.23011	0.661000	0.55757	0.000000	0.06391	0.001000	0.17328	0.035000	0.13729	0.0:0.1795:0.0:0.8205	7.097	0.24492	702	0.57624	Domain of unknown function DUF4764;Domain of unknown function DUF4764;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	158	chr14	102326382	.	T	C	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.147;SOR=0.712	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1889,0,2160	18	0	1	0
chr14	103089748	103089748	G	A	exonic	LBHD2	.	nonsynonymous SNV	LBHD2:NM_001330236:exon4:c.G278A:p.G93D	.	974	536	10	2	0	14	0.0128913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0073767	192	26028	rs118054948	0.0110	0.0052	0.0105	0.0114	0.0139	0.0106	0.0105	0.0121	0.0119	0.0014	0.0043	0.0241	8.738e-05	0.0133	0.0139	0.0125	0.0087	0.0079	0.0084	0.0085	0.0084	0.0085	0.0118	0.0081	0.0079	0.0112	0.0109	0.0021	0	0.0042	0.0297	0.0002	0.0159	0.0068	0.0118	0.0061	0.0087	.	.	.	0.192	0.28300	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	0.00420171	0.00084	T	.	.	.	.	.	.	.	.	.	0.011975718471361193	0.01157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.049992256	0.08962	0.08360937	0.19172	0.049992256	0.08961	0.08360937	0.19172	-4.475	0.30560	T	.	.	0.080	0.07889	B	.	.	1.395661	0.18093	13.54	0.79181475059124573	0.12626	0.03156	0.08122	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999888071968972	0.44867	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.125054	0.25188	3.03	-2.92	0.05277	0.223000	0.17501	0.942000	0.22859	0.618000	0.50648	0.000000	0.06391	0.009000	0.19889	0.005000	0.06747	0.3767:0.1867:0.2632:0.1734	0.566	0.00642	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1697.33	132	chr14	103089748	.	G	A	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=782;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.555;SOR=0.889	GT:AD:DP:GQ:PL	0/1:60,72:132:99:1711,0,1427	18	0	1	0
chr14	104949873	104949873	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5278T:p.P1760S,AHNAK2:NM_138420:exon7:c.C5578T:p.P1860S	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0038	0.00978435	0.0028	0.0121	0.0058	0.0014	0	0.0003	0	0.0069	0.0026649	412	154602	rs112183935	0.0010	0.0010	0.0009	0.0011	0.0099	0.0009	0.0009	0.0090	0.0086	0.0099	0.0050	3.879e-05	0.0006	0	0.0019	0.0003	0.0015	0.0054	0.0038	0.0041	0.0037	0.0038	0.0119	0.0035	0.0034	0.0100	0.0096	0.0108	0	0.0019	0	0.0008	0.0002	0.0035	0.0004	0.0054	0.0119	0.032	0.44694	D	0.021	0.58089	D	0.79	0.44599	P	0.373	0.43650	B	.	.	.	.	1	0.22627	N	2.01	0.54746	M	4.1	0.02944	T	-4.56	0.78636	D	0.114	0.10198	-1.0202	0.23649	T	0.012	0.04795	T	9	0.007196754	0.00164	T	.	.	.	0.055	0.15663	.	.	0.0666544352282	0.05500	0.02940546891295007	0.02889	.	.	0.27526640892	0.06841	T	0.032167	0.22369	T	-0.541107	0.00330	T	-0.540644	0.18234	T	0.0637342760255941	0.07742	T	0.566043	0.20025	T	0.072217695	0.16047	0.09518408	0.22564	0.072217695	0.16046	0.09518408	0.22563	-6.695	0.51773	T	.	.	0.138	0.30238	B	.	.	0.944403	0.13202	9.703	0.98846917594735539	0.47220	0.62796	0.31890	D	AEFBI	.	.	.	-0.263564169738394	0.30567	1.705507	-0.407053576350136	0.24790	1.359493	8.86963423187675E-4	0.07960	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.51	2.58	0.30011	1.811000	0.38580	-1.092000	0.06355	-0.921000	0.02197	0.918000	0.31901	0.000000	0.08366	0.000000	0.00833	0.0825:0.1515:0.6089:0.157	4.703	0.12216	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	0.005482	0.005618	0.005435	0.004167	0.000000	0.000000	0.006623	0.007752	0.02632	8502.33	632	chr14	104949873	.	G	A	8502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.83;DP=6072;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.5;MQRankSum=0.711;QD=13.45;ReadPosRankSum=-0.731;SOR=0.607	GT:AD:DP:GQ:PL	0/1:316,316:632:99:8516,0,8080	18	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,23:59:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:791,0,1403:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,23:45:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:826,0,1091:20534604	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,23:45:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:826,0,1091:20534604	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,23:45:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:826,0,1091:20534604	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,23:45:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:826,0,1091:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,23:45:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:826,0,1091:20534604	4	0	15	0
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	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	.	.	.	.	.	.	.	.	0.07895	128.88	32	chr15	22607800	.	C	G	128.88	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.029;DP=331;ExcessHet=0.3672;FS=54.82;InbreedingCoeff=-0.0879;MLEAC=3;MLEAF=0.079;MQ=27.7;MQRankSum=-2.041;QD=2.22;ReadPosRankSum=0.174;SOR=5.279	GT:AD:DP:GQ:PL	0/1:24,8:32:99:104,0,624	16	0	3	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:7:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:72,7,0:22768260	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:7:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:113,9,0:22768260	8	4	2	5
chr15	22870089	22870089	G	A	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001033028:exon16:c.C2408T:p.T803M,CYFIP1:NM_001324125:exon28:c.C3335T:p.T1112M,CYFIP1:NM_001324124:exon30:c.C3611T:p.T1204M,CYFIP1:NM_001324126:exon30:c.C3599T:p.T1200M,CYFIP1:NM_001324119:exon31:c.C3803T:p.T1268M,CYFIP1:NM_001324120:exon31:c.C3701T:p.T1234M,CYFIP1:NM_001324123:exon31:c.C3701T:p.T1234M,CYFIP1:NM_014608:exon31:c.C3701T:p.T1234M,CYFIP1:NM_001287810:exon32:c.C3701T:p.T1234M,CYFIP1:NM_001324122:exon32:c.C2021T:p.T674M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0079683474455	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs778722046	1.986e-05	2.052e-05	1.771e-05	2.202e-05	0.0002	1.393e-05	1.205e-05	6.52e-05	4.455e-05	0.0001	0	0	0.0002	0	0.0002	1.44e-05	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.11769	.	.	.	.	.	.	.	0.23380727	0.40406	T	.	.	.	.	.	.	.	.	.	0.5581997793164185	0.55746	.	.	.	.	.	0.062741	0.31995	T	.	.	.	.	.	.	.	.	.	0.929307	0.73951	D	.	.	.	.	.	.	.	.	-4.341	0.30626	T	.	.	0.066	0.02285	B	.;.;.	.;.;.	3.011038	0.40265	21.1	.	.	.	.	.	.	0.728338	0.67639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.696000	0.67947	7.478000	0.59226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	.	.	.	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1122.33	106	chr15	22870089	.	G	A	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=740;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.824;SOR=0.606	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1136,0,1302	18	0	1	0
chr15	23129753	23129753	C	T	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.G1700A:p.R567Q,GOLGA6L22:NM_001271664:exon9:c.G1670A:p.R557Q,LOC102723623:NM_001382446:exon9:c.G1628A:p.R543Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00344050140799	.	.	0.0002	0	0	0	0	0	0	0.0003	.	.	.	rs769563547	3.032e-05	4.069e-05	3.823e-05	2.341e-05	0.0003	1.846e-05	1.509e-05	0.0001	9.183e-05	0.0001	3.334e-05	5.712e-05	0.0003	0	0	1.699e-05	0	0	0	1.471e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.266	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.056501985	0.06342	T	0.003441	0.07755	T	.	.	.	.	0.0401082797425	0.02173	0.008782477228974819	0.00842	.	.	.	.	.	.	.	.	-0.322113	0.06726	T	-0.70047	0.05800	T	.	.	.	0.060394	0.00440	T	0.051290587	0.09397	0.08271042	0.18898	0.051290587	0.09396	0.08271042	0.18898	-5.29	0.39844	T	.	.	0.105	0.19438	B	.	.	1.111746	0.14971	11.48	0.44780284017874322	0.03467	0.00266	0.01451	N	AEFI	0.029447	0.02780	N	.	.	.	.	.	.	1.10942770519523E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.161000	0.10014	-9.404000	0.00825	0.245000	0.18292	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	169.77	29	chr15	23129753	.	C	T	169.77	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.07;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0314;MLEAC=1;MLEAF=0.028;MQ=44.61;MQRankSum=2.13;QD=5.85;ReadPosRankSum=-0.459;SOR=0.399	GT:AD:DP:GQ:PL	0/1:22,7:29:99:183,0,686	17	0	1	1
chr15	23129831	23129831	T	G	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.A1622C:p.E541A,GOLGA6L22:NM_001271664:exon9:c.A1592C:p.E531A,LOC102723623:NM_001382446:exon9:c.A1550C:p.E517A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029361449526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.14436644	0.27398	T	0.002936	0.06221	T	.	.	.	.	0.0297737177859	0.01360	0.01466188268273963	0.01423	.	.	.	.	.	.	.	.	-0.354925	0.04426	T	-0.747601	0.03580	T	.	.	.	0.324568	0.06628	T	0.039640725	0.05511	0.11224848	0.27083	0.039640725	0.05511	0.11224848	0.27082	-9.184	0.68874	D	.	.	0.224	0.45495	B	.	.	0.957911	0.13342	9.847	0.29932324496044571	0.01612	0.00236	0.01316	N	AEFI	0.021535	0.00969	N	.	.	.	.	.	.	1.10566401661356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.866000	0.27608	-0.173000	0.11207	-1.087000	0.01546	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	98.33	115	chr15	23129831	.	T	G	98.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.542;DP=1024;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.69;MQRankSum=0.894;QD=0.86;ReadPosRankSum=0.358;SOR=0.481	GT:AD:DP:GQ:PL	0/1:99,16:115:99:112,0,2886	18	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,87:193:99:.:.:7035,3611,4334:.	0	0	19	0
chr15	32396487	32396487	G	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon12:c.C931G:p.L311V	.	455	1063	3	1	0	5	0.00234632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0716571624935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440004475	0.0002	0.0012	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0002	0.0003	0.0002	0.0009	0.0003	0.0003	0.0002	0.0002	0.0002	2.855e-05	0.0002	4.152e-05	1.474e-05	4.702e-05	9.67e-06	5.5e-06	1.248e-05	6.46e-06	2.568e-05	0	0	0	0	0	0	4.702e-05	0	0	0.024	0.47745	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.506312	0.31783	D	.	.	.	.	.	.	-2.43	0.53258	N	0.205	0.22742	-0.5169	0.68031	T	0.222	0.58601	T	6	0.21699679	0.38299	T	0.071657	0.71328	D	0.112	0.31546	.	.	0.0846915920261	0.08053	0.5320233012513216	0.53127	3.4135721607	0.99707	.	.	.	.	.	.	-0.122353	0.32741	T	-0.413528	0.31820	T	0.575798869132996	0.35457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	2.518348	0.32539	19.07	0.9962241067769112	0.75533	0.76460	0.37501	D	AEFI	0.080106	0.16191	N	-0.26154613127991	0.30644	1.710678	-0.423788052482703	0.24301	1.329991	1.64438826947561E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	1.66	0.23081	1.946000	0.39909	3.792000	0.39834	0.195000	0.17883	0.984000	0.35821	1.000000	0.68203	0.152000	0.20376	0.0:0.0:1.0:0.0	9.336	0.37213	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	121.33	13	chr15	32396487	.	G	C	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=718;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.95;MQRankSum=-0.263;QD=9.33;ReadPosRankSum=0.836;SOR=0.16	GT:AD:DP:GQ:PL	0/1:6,7:13:99:135,0,124	18	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,17:110:99:.:.:235,0,3472:.	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,20:102:99:0|1:33066577_C_G:687,0,3043:33066577	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,20:104:99:0|1:33066577_C_G:649,0,3104:33066577	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,20:104:99:0|1:33066577_C_G:649,0,3104:33066577	2	0	9	8
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,23:103:99:.:.:631,0,3189:.	10	0	5	4
chr15	34103880	34103880	T	-	exonic	PGBD4	.	frameshift deletion	PGBD4:NM_152595:exon1:c.1349delT:p.W451Gfs*15	.	435	1078	8	1	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.615e-05	0.0015	0	0	0.0001	0	0.0010	0.0002717	42	154602	rs750450072	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0004	0	0	0	0.0026	9.802e-05	0.0002	0.0012	7.229e-05	7.223e-05	6.424e-05	8.072e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0	0	0	8.82e-05	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2864.29	205	chr15	34103879	.	GT	G	2864.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=841;ExcessHet=0;FS=6.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.473;SOR=1.031	GT:AD:DP:GQ:PL	0/1:107,98:205:99:2878,0,3166	18	0	1	0
chr15	43528806	43528806	C	T	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.C7333T:p.R2445C	.	427	1093	2	0	0	2	0.000914077	.	.	.	2274510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00647042331546	0.0010	.	0.0007	0.0002	0	0	0.0002	0.0011	0	0.0005	0.000718	111	154602	rs199715888	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0013	0.0001	8.948e-05	0	0	0.0001	0.0010	0.0013	0.0009	0.0003	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	0.0003	0	0.0003	0	0	9.416e-05	0	0.0012	0.0014	0.0008	0.228	0.18434	T	0.032	0.53426	D	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.49	0.13296	N	4.94	0.01385	T	-1.63	0.42957	N	0.119	0.11769	-0.9243	0.44957	T	0.004	0.01125	T	9	0.01504153	0.00316	T	0.00647	0.17043	T	0.020	0.03691	.	.	0.043077524339	0.03247	0.2154883761039171	0.21464	0.25712712835	0.28284	0.238991975784	0.02700	T	0.264584	0.63637	T	-0.672029	0.00053	T	-0.737146	0.04011	T	0.00491185209940527	0.00053	T	0.763224	0.40598	T	0.06913658	0.15121	0.04600111	0.06313	0.06913658	0.15121	0.04600111	0.06313	-4.869	0.35385	T	.	.	0.076	0.06024	B	.;.	.;.	0.823563	0.11949	8.509	0.5794817657820015	0.05882	0.05180	0.10999	N	AEFDBCI	0.079328	0.16021	N	-1.04364013814408	0.07713	0.3592437	-1.08559724802774	0.07983	0.3905694	0.999976259819386	0.50053	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.63	-2.08	0.06852	0.585000	0.23580	-0.604000	0.08255	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.2272:0.3587:0.0:0.414	4.895	0.13102	19	0.98577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2194.33	174	chr15	43528806	.	C	T	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=913;ExcessHet=0;FS=1.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.178;SOR=0.566	GT:AD:DP:GQ:PL	0/1:87,87:174:99:2208,0,2003	18	0	1	0
chr15	43635775	43635775	C	T	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon9:c.G1091A:p.R364Q,CATSPER2:NM_172095:exon9:c.G1073A:p.R358Q,CATSPER2:NM_001282309:exon10:c.G1073A:p.R358Q	.	420	1059	40	3	0	46	0.0212569	.	.	.	2817519	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.300	.	0.0065	0.00439297	0.0069	0.0013	0.0040	0	0.0006	0.0080	0.0056	0.0138	0.0066429	1027	154602	rs148320269	0.0077	0.0077	0.0073	0.0081	0.0144	0.0076	0.0075	0.0137	0.0134	0.0015	0.0043	0.0086	0	0.0011	0.0130	0.0080	0.0077	0.0144	0.0056	0.0056	0.0055	0.0057	0.0150	0.0053	0.0051	0.0122	0.0112	0.0016	0	0.0075	0.0110	0	0.0004	0.0102	0.0079	0.0071	0.0150	0.395	0.10694	T	0.226	0.25438	T	0.0	0.02946	B	0.0	0.01387	B	0.007082	0.01154	N	18.738300	1	0.45528	N	0.41	0.12415	N	-3.98	0.96308	D	0.59	0.02558	N	0.087	0.06587	-0.1349	0.79287	T	0.621	0.86638	D	10	0.0065864027	0.00149	T	.	.	.	0.300	0.62068	.	.	0.340753184043	0.33682	0.1604080803692995	0.15961	0.254823423877	0.28066	0.228639245033	0.01869	T	0.02409	0.18267	T	-0.423025	0.01636	T	-0.368098	0.37111	T	0.0016811674691884	0.00017	T	0.70483	0.31518	T	0.025788074	0.01557	0.028524682	0.01096	0.031156464	0.02906	0.028524682	0.01095	-3.221	0.12901	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	1.844983	0.23437	16.02	0.83343577433187421	0.14674	0.13270	0.17761	N	AEFGI	0.063482	0.12270	N	-1.39972487360096	0.02642	0.1169304	-1.29332230661909	0.04520	0.2133892	5.19079021340073E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.62	0.808	0.17861	1.490000	0.35181	5.841000	0.50249	-1.365000	0.01177	0.994000	0.38300	1.000000	0.68203	0.004000	0.06068	0.3882:0.3811:0.0885:0.1423	2.454	0.04249	7	0.99271	.;.;.	CTD-2036P10.5|ZSCAN29	Artery_Tibial|Testis	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	538.33	52	chr15	43635775	.	C	T	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.18;SOR=0.776	GT:AD:DP:GQ:PL	0/1:32,20:52:99:552,0,828	18	0	1	0
chr15	45269353	45269353	C	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon14:c.C1384T:p.L462F	.	422	1091	9	0	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0053	0.00219649	0.0050	0.0015	0.0040	0	0.0027	0.0067	0.0022	0.0043	0.0052716	815	154602	rs17222057	0.0077	0.0078	0.0078	0.0077	0.0088	0.0076	0.0076	0.0086	0.0086	0.0011	0.0044	0.0130	0.0001	0.0036	0.0033	0.0088	0.0067	0.0039	0.0051	0.0051	0.0057	0.0044	0.0076	0.0048	0.0047	0.0071	0.0069	0.0015	0	0.0059	0.0141	0	0.0031	0	0.0076	0.0019	0.0031	0.002	0.72154	D	0.005	0.72224	D	0.052	0.22494	B	0.094	0.30180	B	0.010277	0.29994	N	0.405704	0.999998	0.08975	N	1.445	0.36358	L	3.02	0.08986	T	-1.76	0.41618	N	0.255	0.28849	-1.0259	0.21788	T	0.012	0.04510	T	10	0.006441891	0.00146	T	.	.	.	0.064	0.18567	.	.	0.0297737177859	0.01360	0.6686967007603511	0.66807	0.0482070404914	0.05268	0.290889114141	0.09052	T	0.052976	0.29314	T	-0.602462	0.00141	T	-0.628776	0.10508	T	0.0135854117768255	0.00251	T	0.79822	0.44280	T	0.30386022	0.53248	0.19016315	0.42404	0.30386022	0.53248	0.19016315	0.42403	-3.324	0.14048	T	.	.	0.091	0.13315	B	.	.	1.305720	0.17084	12.95	0.97414041760857306	0.33840	0.09035	0.14870	N	AEFDI	0.142566	0.26504	N	-1.29535967406784	0.03731	0.1671785	-1.37230193295767	0.03550	0.1658196	0.835945066895725	0.24779	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.04	-7.62	0.01154	-0.069000	0.11501	-1.087000	0.06371	-1.056000	0.01626	0.001000	0.13787	0.000000	0.08366	0.901000	0.43729	0.4656:0.2783:0.2561:0.0	7.692	0.27741	607	0.67291	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	819.33	67	chr15	45269353	.	C	T	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=702;ExcessHet=0;FS=3.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.807;SOR=1.258	GT:AD:DP:GQ:PL	0/1:37,30:67:99:833,0,991	18	0	1	0
chr15	48744241	48744241	T	A	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_014985:exon23:c.A3666T:p.K1222N,CEP152:NM_001194998:exon24:c.A3834T:p.K1278N	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	2	1506	14	0	0	14	0.00462657	0.1028	0.46	.	513632	Microcephaly_9,_primary,_autosomal_recessive	MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0874096307611	.	.	1.693e-05	0	0	0	0	3.066e-05	0	0	1.94e-05	3	154602	rs760130069	4.105e-06	4.104e-06	5.446e-06	2.75e-06	2.698e-06	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	5.617e-05	0	2.698e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.429e-05	0	0	0	0	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.065758	0.996839	0.43448	D	2.69	0.78713	M	-0.09	0.64818	T	-2.8	0.59226	D	0.652	0.66272	-0.5040	0.68505	T	0.342	0.70778	T	10	0.6741574	0.70890	D	0.08741	0.74930	D	0.249	0.55752	.	.	0.761427779387	0.75925	0.17887472085080316	0.17806	0.420452948576	0.42575	0.677323102951	0.63884	T	0.149146	0.48802	T	-0.121951	0.32804	T	-0.397464	0.33678	T	0.926797986030579	0.58927	D	0.890911	0.62511	D	0.8065632	0.84328	0.41853675	0.65874	0.7263775	0.79521	0.5156838	0.72017	-11.648	0.87857	D	0.543519342706839	0.61290	0.981	0.91344	P	.;.;.	.;.;.	2.639011	0.34336	19.60	0.99679487656406052	0.79174	0.74754	0.36577	D	AEFBI	0.199743	0.32652	N	-0.0463841587803126	0.39764	2.350259	-0.170912098425895	0.32612	1.857142	0.0386212332055092	0.14356	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.09	0.362	0.15348	0.233000	0.17689	-0.551000	0.08528	-0.356000	0.05535	0.985000	0.35982	0.019000	0.20708	0.598000	0.31338	0.0:0.5371:0.0:0.4629	8.440	0.31971	258	0.89879	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	890.33	78	chr15	48744241	.	T	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.02;SOR=0.684	GT:AD:DP:GQ:PL	0/1:38,40:78:99:904,0,863	18	0	1	0
chr15	50930925	50930925	A	G	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon7:c.A598G:p.I200V,AP4E1:NM_007347:exon7:c.A823G:p.I275V	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.013640635612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.183	0.29153	T	0.815	0.45525	P	0.657	0.52725	P	0.000010	0.62929	D	0.146783	1	0.81001	D	1.75	0.45442	L	1.92	0.23082	T	-0.64	0.18670	N	0.559	0.58373	-1.1026	0.03790	T	0.084	0.32929	T	10	0.33982503	0.51062	T	0.013641	0.33196	T	0.161	0.41658	0.542	0.65446	0.221890330934	0.21812	0.36194397485981983	0.36108	0.400234520814	0.41026	0.765641868114	0.76771	T	0.091746	0.38860	T	-0.0500578	0.44439	T	-0.309681	0.43693	T	0.879716217517853	0.52969	D	0.90321	0.66782	D	0.15987073	0.35889	0.14776932	0.34956	0.15987073	0.35889	0.14776932	0.34955	-3.645	0.18510	T	.	.	0.154	0.40197	B	.;.	.;.	3.136006	0.42394	21.5	0.99704122038422016	0.80867	0.98900	0.88361	D	AEFDBI	0.874844	0.79793	D	0.344803596554355	0.58466	4.018969	0.476665296359337	0.66445	4.953237	0.999999999563252	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.02	6.02	0.97559	8.947000	0.92735	9.395000	0.80605	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.726	0.77519	232	0.90957	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2565.33	250	chr15	50930925	.	A	G	2565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=891;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.927;SOR=0.626	GT:AD:DP:GQ:PL	0/1:143,107:250:99:2579,0,3494	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:87,33:131:5:5,0,1867	3	0	13	3
chr15	52275719	52275719	C	A	splicing	MYO5C	NM_018728:exon5:c.450-1G>T	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286553	0.81869	D	0.173837	0.81635	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.123572	0.96169	35	0.99065102541183203	0.51574	0.99274	0.93794	D	AEFBI	.	.	.	0.982984878000611	0.95197	13.39649	0.780205789063309	0.88385	9.562244	0.999999999995827	0.74766	0.106106	0.02776	0	0.084543	0.02171	0	0.137589	0.03823	0	0.109871	0.03346	0	0.975639	0.78622	5.47	5.47	0.80345	7.905000	0.86479	7.574000	0.60786	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	19.316	0.94203	376	0.83959	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1638.33	203	chr15	52275719	.	C	A	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=837;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.25;SOR=0.813	GT:AD:DP:GQ:PL	0/1:129,74:203:99:1652,0,3222	18	0	1	0
chr15	52330476	52330476	G	A	exonic	MYO5A	.	nonsynonymous SNV	MYO5A:NM_001142495:exon33:c.C4276T:p.P1426S,MYO5A:NM_000259:exon34:c.C4357T:p.P1453S,MYO5A:NM_001382347:exon35:c.C4432T:p.P1478S,MYO5A:NM_001382349:exon35:c.C4429T:p.P1477S,MYO5A:NM_001382348:exon36:c.C4504T:p.P1502S	Griscelli syndrome, type 1, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	739687	Inborn_genetic_diseases|Intellectual_disability|MYO5A-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0148828240929	0.0008	0.000199681	0.0007	0.0001	0.0004	0	0	0.0011	0	0.0001	0.0006015	93	154602	rs147898420	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0004	0.0003	0.0003	2.988e-05	0.0004	0.0103	0	0	0.0009	0.0003	0.0010	5.797e-05	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	7.227e-05	0	0.0004	0.0107	0	0	0	0.0006	0	0	0.355	0.26192	T	0.304	0.20228	T	0.004	0.40146	B	0.004	0.32300	B	0.000000	0.84330	D	0.054574	1	0.81001	D	1.525	0.38595	L	2.32	0.16640	T	-1.53	0.50012	N	0.279	0.37197	-1.0408	0.17071	T	0.025	0.10643	T	10	0.008633822	0.00196	T	0.014883	0.35280	T	0.178	0.44724	.	.	0.380246515176	0.37641	0.6550470992789403	0.65440	0.904705909758	0.70791	0.775734901428	0.78285	T	0.073549	0.34725	T	-0.250057	0.14092	T	-0.249794	0.49838	T	0.0322505323795571	0.02347	T	0.984801	0.94749	D	0.1266123	0.29651	0.19195548	0.42683	0.13357201	0.31064	0.212632	0.45740	-2.365	0.05238	T	.	.	0.156	0.54847	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.043654	0.59881	24.2	0.99563063942108254	0.71892	0.98185	0.80341	D	AEFBI	0.820114	0.74098	D	-0.0376507001010593	0.40155	2.379973	0.184545217751244	0.49000	3.108633	0.999999999999885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.668000	0.82869	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.272	0.94000	325	0.86759	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	995.33	100	chr15	52330476	.	G	A	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.111;SOR=0.736	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1009,0,1284	18	0	1	0
chr15	56095028	56095028	C	A	exonic	RFX7	.	nonsynonymous SNV	RFX7:NM_001368073:exon9:c.G2409T:p.M803I,RFX7:NM_001368074:exon9:c.G2409T:p.M803I,RFX7:NM_001370554:exon9:c.G2409T:p.M803I,RFX7:NM_022841:exon10:c.G2700T:p.M900I,RFX7:NM_001370561:exon12:c.G2700T:p.M900I	.	423	1091	7	1	0	9	0.00410771	.	.	.	3203995	not_provided|RFX7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.0135855004157	0.0002	.	0.0007	0	0.0002	0	0.0002	0.0007	0.0034	0.0018	0.0006015	93	154602	rs199811341	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0017	0.0016	5.975e-05	0.0003	0.0003	0	0.0002	0.0023	0.0005	0.0007	0.0019	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0006	0.0005	2.413e-05	0	6.548e-05	0	0	9.425e-05	0	0.0007	0.0005	0.0012	0.18	0.21968	T	0.549	0.09457	T	0.0	0.02946	B	0.0	0.01387	B	0.000004	0.62929	N	0.101144	0.996012	0.42972	D	1.265	0.31966	L	0.66	0.52416	T	-0.7	0.19933	N	0.252	0.28498	-1.0921	0.05191	T	0.084	0.32729	T	10	0.011806458	0.00256	T	0.013586	0.33109	T	.	.	0.177	0.08379	0.043077524339	0.03247	0.3276048400559071	0.32673	.	.	0.515174925327	0.40948	T	0.012251	0.10804	T	-0.44693	0.01177	T	-0.42799	0.30163	T	0.0144240528992851	0.00291	T	0.79532	0.43818	T	0.44283026	0.63584	0.389568	0.63773	0.44283026	0.63585	0.389568	0.63773	-3.976	0.23443	T	.	.	0.146	0.32153	B	.	.	3.177365	0.43117	21.7	0.92181796277193317	0.21547	0.93873	0.59438	D	AEFDBI	0.218743	0.34371	N	-0.262415023347815	0.30612	1.708447	-0.0532869262543847	0.37348	2.185592	0.999258329954256	0.38906	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	4.65	0.57626	3.168000	0.50501	4.844000	0.45312	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8631:0.1369:0.0	15.691	0.77208	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2242.33	170	chr15	56095028	.	C	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.138;DP=1968;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.234;SOR=0.74	GT:AD:DP:GQ:PL	0/1:84,86:170:99:2256,0,2204	18	0	1	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	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	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.02632	800.33	48	chr15	60466706	.	T	C	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-0.197;SOR=0.602	GT:AD:DP:GQ:PL	0/1:16,32:48:99:814,0,356	18	0	1	0
chr15	65564320	65564320	C	T	exonic	HACD3	.	nonsynonymous SNV	HACD3:NM_016395:exon7:c.C638T:p.P213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0315688328465	.	0.000199681	0.0001	0	0	0.0001	0.0005	0	0.0011	0.0005	9.06e-05	14	154602	rs570046325	6.501e-05	6.567e-05	4.493e-05	8.529e-05	0.0008	5.43e-05	5.043e-05	0.0006	0.0006	0	8.958e-05	0	0	0.0001	0.0002	1.439e-05	1.656e-05	0.0008	6.568e-05	6.563e-05	5.141e-05	8.059e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.992e-05	2.408e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0006	0.685	0.46513	T	0.13	0.46182	T	0.997	0.70673	D	0.837	0.59984	P	0.000370	0.45194	D	0.235877	0.999999	0.58761	D	2.36	0.67893	M	1.41	0.33412	T	-2.91	0.62343	D	0.613	0.66529	-0.8173	0.54102	T	0.177	0.52146	T	10	0.35177302	0.52020	T	0.031569	0.53618	D	0.360	0.68052	0.68	0.81788	0.388970301349	0.38507	0.5845023449730615	0.58380	0.429269928717	0.43224	0.476957798004	0.35638	T	0.233082	0.65518	T	-0.30192	0.08479	T	-0.302714	0.44438	T	0.594726264476776	0.36192	D	0.893711	0.63166	D	0.20761906	0.42973	0.21122532	0.45542	0.20761906	0.42973	0.21122532	0.45541	-8.995	0.68536	D	.	.	0.251	0.50708	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.291523	0.65449	24.8	0.98901437972843609	0.48199	0.98522	0.83679	D	AEFBI	0.762102	0.69962	D	0.505184646713301	0.67396	5.076041	0.40169549094758	0.61669	4.370462	0.999654846492656	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.252000	0.72400	4.858000	0.45442	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.029000	0.12982	0.0:0.8643:0.1357:0.0	15.742	0.77670	589	0.68969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1527.33	109	chr15	65564320	.	C	T	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=746;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.471;SOR=0.42	GT:AD:DP:GQ:PL	0/1:45,64:109:99:1541,0,1015	18	0	1	0
chr15	74854109	74854109	G	A	exonic	SCAMP2	.	nonsynonymous SNV	SCAMP2:NM_001320778:exon3:c.C137T:p.A46V,SCAMP2:NM_005697:exon3:c.C137T:p.A46V	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00749920106007	7.7e-05	0.000599042	0.0002	0.0004	0.0011	0	0	0.0002	0	0	0.000304	47	154602	rs200893940	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0008	0	2.519e-05	0	0.0017	0.0001	0.0005	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0004	0.0004	0	0.0009	0	0	0	0	0.0002	0.0009	0	0.12	0.36113	T	0.274	0.29249	T	0.051	0.22415	B	0.019	0.18783	B	0.377510	0.13437	N	0.677027	0.611129	0.32622	D	1.175	0.29870	L	2.45	0.46028	T	-1.27	0.35399	N	0.516	0.54671	-1.0440	0.16118	T	0.029	0.12409	T	10	0.022176653	0.00547	T	0.007499	0.19899	T	0.034	0.08419	.	.	0.303781844768	0.29979	0.22792070076497822	0.22707	0.390989153767	0.40301	0.641013503075	0.58707	T	0.014386	0.15470	T	-0.429803	0.01486	T	-0.453538	0.27305	T	0.0251295825742676	0.01290	T	0.726327	0.36724	T	0.021729274	0.00791	0.045736734	0.06221	0.021729274	0.00791	0.045736734	0.06221	-3.664	0.18788	T	.	.	0.096	0.24532	B	.;.;.;.	.;.;.;.	3.928048	0.57397	23.9	0.96932657236900166	0.31664	0.97331	0.74077	D	AEFBHI	0.611575	0.59997	D	-0.412149132727999	0.25043	1.356534	-0.26982574107581	0.29097	1.627524	0.996973438636251	0.35164	0.706548	0.73137	0	0.697927	0.68747	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.33	3.42	0.38259	4.537000	0.60354	7.622000	0.62351	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0772:0.144:0.6297:0.1491	5.250	0.14832	275	0.89190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	99	chr15	74854109	.	G	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.144;DP=727;ExcessHet=0;FS=11.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.354;SOR=0.707	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1260,0,1132	18	0	1	0
chr15	75208123	75208123	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.G2075A:p.R692Q	.	356	1165	1	0	0	1	0.000429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00504616176411	7.7e-05	.	4.954e-05	0	0.0002	0.0001	0	4.51e-05	0	0	7.12e-05	11	154602	rs377308521	9.304e-05	9.303e-05	0.0001	8.526e-05	0.0003	8.025e-05	7.518e-05	0.0002	0.0002	0	0.0003	0	0.0001	0	0	9.802e-05	6.623e-05	4.637e-05	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0001	2.558e-05	1.83e-05	2.261e-05	1.124e-05	4.827e-05	0	0.0001	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.753	0.04754	T	0.001	0.07471	B	0.0	0.01387	B	0.123995	0.18897	N	0.536026	0.999999	0.08975	N	-1.79	0.00298	N	1.99	0.21666	T	1.92	0.00461	N	0.034	0.01068	-0.9578	0.39589	T	0.010	0.03582	T	10	0.016175598	0.00340	T	0.005046	0.12753	T	0.015	0.02232	.	.	0.0675242888579	0.06100	0.041462835847644215	0.04091	0.249498265086	0.27528	.	.	.	3.31E-4	0.00092	T	-0.483555	0.00705	T	-0.638882	0.09751	T	0.0239178812158201	0.01134	T	0.674733	0.28305	T	0.023971623	0.01184	0.03161881	0.01777	0.023971623	0.01184	0.03161881	0.01777	-2.652	0.08276	T	.	.	0.056	0.00604	B	.;.;.	.;.;.	0.766310	0.11363	7.978	0.85262214087699995	0.15784	0.03699	0.08977	N	AEFDBHCI	0.022297	0.01096	N	-1.29814844359597	0.03698	0.1656685	-1.09765633108099	0.07746	0.3780145	0.999999535744454	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.11	2.54	0.29674	0.977000	0.29072	3.305000	0.37415	-0.162000	0.11565	0.004000	0.16614	0.949000	0.28973	0.753000	0.35893	0.7235:0.1806:0.096:0.0	5.177	0.14469	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	144	chr15	75208123	.	G	A	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=851;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.514;SOR=0.807	GT:AD:DP:GQ:PL	0/1:72,72:144:99:2118,0,1761	18	0	1	0
chr15	75676580	75676580	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon10:c.G5939A:p.R1980H	.	431	1087	4	0	0	4	0.00183655	.	.	.	2814350	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0032	0.00339457	0.0030	0.0007	0.0020	0	0.0012	0.0047	0.0034	0.0008	0.0030336	469	154602	rs117177957	0.0041	0.0041	0.0042	0.0040	0.0048	0.0040	0.0039	0.0047	0.0046	0.0006	0.0023	0.0042	0	0.0019	0.0028	0.0048	0.0037	0.0007	0.0029	0.0029	0.0032	0.0025	0.0046	0.0027	0.0026	0.0042	0.0040	0.0008	0.0044	0.0029	0.0055	0	0.0011	0	0.0046	0.0038	0.0008	0.016	0.51853	D	0.035	0.52389	D	0.022	0.18677	B	0.005	0.11217	B	0.551924	0.05375	N	1.241220	0.999999	0.08975	N	1.56	0.39490	L	2.21	0.18414	T	-1.21	0.30762	N	0.091	0.06990	-0.9868	0.33396	T	0.035	0.14900	T	10	0.012677461	0.00272	T	.	.	.	0.030	0.07022	.	.	0.213573922156	0.20996	0.5185696753613581	0.51779	0.415312822273	0.42189	0.27164915204	0.06358	T	0.114102	0.43165	T	-0.579542	0.00194	T	-0.603744	0.12498	T	0.00837444976749577	0.00101	T	0.622538	0.23960	T	0.053181816	0.10025	0.03971262	0.04128	0.053181816	0.10024	0.03971262	0.04127	-4.746	0.33956	T	.	.	0.069	0.03162	B	.	.	1.176323	0.15667	12.02	0.97814793328887673	0.36155	0.12111	0.17066	N	AEFBI	0.100479	0.20204	N	-0.585732296204093	0.19377	1.013655	-0.57507694529719	0.20143	1.083961	0.999625706539939	0.41093	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	5.15	0.605	0.16731	-0.452000	0.06861	-1.918000	0.04498	0.585000	0.30472	0.025000	0.20085	0.000000	0.08366	0.046000	0.14843	0.0:0.4506:0.318:0.2314	7.839	0.28546	164	0.93620	.	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1510.33	79	chr15	75676580	.	C	T	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=835;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=1.22;SOR=0.859	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1524,0,770	18	0	1	0
chr15	82787093	82787093	C	T	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001007122:exon2:c.G298A:p.V100I,FSD2:NM_001281806:exon2:c.G298A:p.V100I,FSD2:NM_001281805:exon3:c.G298A:p.V100I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00455612140794	0.0002	0.000798722	0.0005	0.0001	0.0011	0	0	0.0007	0	0	0.0004786	74	154602	rs181504252	0.0010	0.0010	0.0011	0.0009	0.0012	0.0010	0.0010	0.0012	0.0012	8.961e-05	0.0008	0	0	5.621e-05	0.0007	0.0012	0.0010	2.319e-05	0.0007	0.0007	0.0008	0.0006	0.0018	0.0006	0.0006	0.0012	0.0011	0.0001	0	0.0018	0	0	0	0	0.0011	0.0009	0.0002	0.405	0.11334	T	0.658	0.39040	T	0.013	0.16609	B	0.003	0.08700	B	0.911748	0.07420	N	1.049970	1	0.08975	N	1.43	0.35840	L	0.89	0.45636	T	0.14	0.21215	N	0.074	0.18784	-1.0196	0.23845	T	0.053	0.22655	T	10	0.011366874	0.00249	T	0.004556	0.11220	T	0.091	0.26358	.	.	0.0920862733494	0.08535	0.12642211751523277	0.12568	0.0433656557406	0.04671	0.34982407093	0.17896	T	0.008007	0.07373	T	-0.635805	0.00088	T	-0.721445	0.04726	T	0.0285868061613932	0.01774	T	0.626737	0.24270	T	0.019078307	0.00433	0.021652212	0.00210	0.019078307	0.00432	0.021652212	0.00210	-3.607	0.17958	T	.	.	0.065	0.05317	B	.;.;.	.;.;.	-0.266922	0.02765	0.373	0.70278121368591695	0.09243	0.03914	0.09299	N	AEFDBCI	0.047305	0.07951	N	-1.06432746294376	0.07309	0.3391519	-1.09445745253563	0.07808	0.3813121	0.0984778910163143	0.16306	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	-0.0651	0.13102	-0.388000	0.07411	-0.613000	0.08212	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1801:0.2179:0.178:0.424	0.679	0.00815	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1928.33	160	chr15	82787093	.	C	T	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.59;SOR=0.706	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1942,0,2290	18	0	1	0
chr15	84240190	84240190	-	TGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.836_837insTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA:p.L299_C300insREQEERLRVQEERLHEQEERLHEQEERLCEQEERLREQEERL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.375e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	403.46	67	chr15	84240190	.	G	GTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA	403.46	.	AC=1;AF=0.036;AN=28;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.1016;MLEAC=1;MLEAF=0.036;MQ=36.85;QD=6.02;SOR=0.51	GT:AD:DP:GQ:PL	0/1:67,0:67:99:415,0,1601	13	0	1	5
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:270,52:322:99:.:.:1026,0,9741:.	13	0	5	1
chr15	84512578	84512578	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	681	839	2	0	0	2	0.00119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868715838	0.0002	0.0006	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0	2.816e-05	4.083e-05	2.804e-05	0.0001	0.0005	0.0002	0.0002	6.438e-05	5.014e-05	0.0001	5.612e-05	4.391e-05	0.0001	2.281e-05	1.637e-05	2.413e-05	1.343e-05	2.451e-05	0	0.0001	0	0	0	0	6.635e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	582.33	406	chr15	84512578	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=1658;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.37;MQRankSum=-0.763;QD=1.43;ReadPosRankSum=-0.819;SOR=0.827	GT:AD:DP:GQ:PL	0/1:345,61:406:99:596,0,8591	18	0	1	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,45:45:99:.:.:1963,136,0:.	1	15	1	2
chr15	90228014	90228014	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon13:c.G1471A:p.V491I,SEMA4B:NM_001324030:exon14:c.G1417A:p.V473I,SEMA4B:NM_001324034:exon14:c.G1915A:p.V639I,SEMA4B:NM_198925:exon14:c.G1885A:p.V629I,SEMA4B:NM_001324031:exon15:c.G2044A:p.V682I,SEMA4B:NM_001324033:exon15:c.G1417A:p.V473I,SEMA4B:NM_020210:exon15:c.G1885A:p.V629I	.	.	.	.	.	.	.	.	.	.	.	3321230	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00426838143777	.	.	1.683e-05	0	8.77e-05	0	0	0	0	6.118e-05	1.29e-05	2	154602	rs759137292	2.6e-05	2.599e-05	2.587e-05	2.613e-05	0.0001	1.933e-05	1.692e-05	4.359e-05	2.767e-05	0	0.0001	0	2.519e-05	0	0	2.518e-05	3.313e-05	2.319e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	1.032e-05	7.238e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.601	0.05618	T	0.645	0.06859	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	0.2	0.04861	N	0.049	0.02088	-0.9671	0.37794	T	0.020	0.08407	T	9	0.021473348	0.00514	T	0.004268	0.10341	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.14177077545769204	0.14100	0.185051502145	0.20798	0.290869683027	0.09049	T	0.003298	0.02708	T	-0.48016	0.00737	T	-0.701791	0.05728	T	0.0192174455248797	0.00628	T	0.60194	0.22516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04681	B	.;.	.;.	0.233055	0.06140	2.587	0.78508849431245731	0.12331	0.05828	0.11769	N	AEFBCI	0.050830	0.08921	N	-1.72089199047965	0.00770	0.03327126	-1.76235956992807	0.00887	0.03966879	0.999984154646583	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.19	-6.72	0.01591	0.049000	0.13983	-0.029000	0.12820	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.181000	0.21328	0.4879:0.1748:0.3373:0.0	8.770	0.33887	577	0.69927	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2014.33	197	chr15	90228014	.	G	A	2014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=1419;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.977;SOR=0.745	GT:AD:DP:GQ:PL	0/1:113,84:197:99:2028,0,2705	18	0	1	0
chr15	101711960	101711960	C	T	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon5:c.G732A:p.M244I	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0125758893241	0.0004	0.000998403	0.0016	9.775e-05	0.0026	0	0	0.0005	0.0022	0.0080	0.0014101	218	154602	rs138576200	0.0008	0.0008	0.0005	0.0011	0.0080	0.0007	0.0007	0.0075	0.0073	2.988e-05	0.0009	0	0	1.872e-05	0.0056	0.0003	0.0011	0.0080	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	7.216e-05	0	0.0007	0	0.0004	0	0.0102	0.0005	0.0009	0.0079	0.164	0.23360	T	0.216	0.26226	T	0.311	0.32818	B	0.137	0.33328	B	0.000000	0.84330	D	0.037010	1	0.81001	D	0.86	0.21358	L	3.24	0.06845	T	-2.82	0.59545	D	0.778	0.77507	-1.0687	0.09701	T	0.026	0.11353	T	10	0.0127848685	0.00273	T	0.012576	0.31278	T	0.198	0.48105	0.395	0.42099	0.50810274593	0.50449	0.4084183242562478	0.40757	0.0673842788686	0.07530	0.604388415813	0.53524	T	0.25228	0.62264	T	-0.354413	0.04456	T	-0.276316	0.47180	T	0.0708742092903479	0.08773	T	0.972303	0.89961	D	0.46672738	0.65089	0.39096457	0.63879	0.46672738	0.65090	0.39096457	0.63879	-7.7	0.59008	D	.	.	0.757	0.76578	P	.;.	.;.	3.975869	0.58419	24.0	0.9919636756248571	0.55142	0.98493	0.83361	D	AEFBI	0.852237	0.76914	D	0.235208173123342	0.52913	3.462584	0.380425553281883	0.60357	4.222546	0.999999999982938	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	7.681000	0.83381	5.786000	0.49836	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.635	0.84906	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004777	0.012048	0.002732	0.003067	0.000000	0.008621	0.000000	0.011811	0.02632	1057.33	92	chr15	101711960	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.255;DP=763;ExcessHet=0;FS=1.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.18;SOR=0.467	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1071,0,1168	18	0	1	0
chr16	284531	284531	C	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon2:c.C344T:p.T115M	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0030	0.00139776	0.0047	0.0006	0.0007	0.0001	0.0222	0.0059	0.0014	0.0019	0.0038292	592	154602	rs182349041	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0046	0.0046	0.0003	0.0007	0.0041	0.0002	0.0174	0.0023	0.0048	0.0043	0.0021	0.0043	0.0043	0.0040	0.0045	0.0058	0.0040	0.0039	0.0053	0.0051	0.0006	0	0.0013	0.0040	0.0004	0.0174	0	0.0058	0.0019	0.0017	0.006	0.61437	D	0.022	0.57587	D	0.847	0.46818	P	0.75	0.56031	P	0.631836	0.10680	N	0.816579	1	0.08975	N	0.965	0.23975	L	3.92	0.03462	T	-0.83	0.23590	N	0.48	0.51494	-0.9638	0.38448	T	0.016	0.06616	T	10	0.012411565	0.00267	T	.	.	.	0.086	0.25016	.	.	0.587058026133	0.58379	0.5243186002635831	0.52355	.	.	0.4394723773	0.30505	T	0.010785	0.09704	T	-0.522425	0.00426	T	-0.515242	0.20779	T	0.0429149134614305	0.04221	T	0.956904	0.83579	D	0.102028966	0.24104	0.119134404	0.28756	0.102028966	0.24104	0.119134404	0.28756	-8.824	0.66557	D	.	.	0.081	0.16054	B	.;.	.;.	1.979234	0.25141	16.66	0.99613626223670504	0.74992	0.11231	0.16496	N	AEFDBI	0.245371	0.36632	N	-0.346092156969214	0.27417	1.504001	-0.515101256597283	0.21743	1.177671	0.0583153876349015	0.15123	0.700653	0.57754	0	0.550933	0.16991	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.14	1.96	0.25203	0.354000	0.19885	1.643000	0.27803	0.517000	0.23534	0.000000	0.06391	0.911000	0.28135	0.034000	0.13613	0.1799:0.5367:0.176:0.1073	2.943	0.05479	753	0.51500	Thioredoxin domain|Thioredoxin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	116	chr16	284531	.	C	T	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=744;ExcessHet=0;FS=2.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.649;SOR=0.867	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1342,0,1527	18	0	1	0
chr16	764988	764988	G	T	exonic	MSLN	.	nonsynonymous SNV	MSLN:NM_013404:exon7:c.G462T:p.R154S,MSLN:NM_001177355:exon8:c.G462T:p.R154S,MSLN:NM_005823:exon8:c.G462T:p.R154S	.	424	1097	0	1	0	2	0.000910747	.	.	.	4029573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.00270536254645	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs552877065	0.0001	0.0001	8.315e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0023	4.594e-05	4.593e-05	1.284e-05	8.054e-05	0.0014	2.107e-05	1.525e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.245	0.40573	T	0.016	0.92824	D	0.969	0.58077	D	0.556	0.56031	P	0.610480	0.10871	N	0.729752	1	0.08975	N	2.3	0.65703	M	2.21	0.18414	T	-0.65	0.36980	N	0.21	0.28146	-1.0438	0.16177	T	0.054	0.22959	T	10	0.03643316	0.01941	T	0.002705	0.05550	T	0.133	0.36157	0.775	0.90080	0.455173453901	0.45141	0.4005544989652858	0.39970	0.108920095082	0.12281	0.403281629086	0.25526	T	0.056946	0.30429	T	-0.522683	0.00424	T	-0.529122	0.19374	T	0.072925417468369	0.09055	T	0.516048	0.17353	T	0.1384673	0.32023	0.0546971	0.09458	0.1384673	0.32023	0.0546971	0.09457	-5.148	0.38584	T	.	.	0.250	0.54353	B	.;.;.;.;.;.	.;.;.;.;.;.	1.417000	0.18331	13.68	0.87077010031010293	0.16972	0.02943	0.07767	N	AEFBI	0.100674	0.20237	N	-0.57119550523393	0.19825	1.040554	-0.808187869271403	0.14297	0.7463228	0.0130593984321095	0.12410	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.5	0.035	0.13504	0.111000	0.15292	0.166000	0.15462	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1466:0.4543:0.3991:0.0	4.602	0.11749	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003817	0.02632	689.33	40	chr16	764988	.	G	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=674;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=1.74;SOR=0.625	GT:AD:DP:GQ:PL	0/1:12,28:40:99:703,0,164	18	0	1	0
chr16	869948	869948	G	A	exonic	LMF1	.	nonsynonymous SNV	LMF1:NM_001352019:exon9:c.C1024T:p.R342W,LMF1:NM_001352021:exon9:c.C700T:p.R234W,LMF1:NM_022773:exon9:c.C1351T:p.R451W,LMF1:NM_001352017:exon10:c.C700T:p.R234W,LMF1:NM_001352018:exon10:c.C952T:p.R318W	Lipase deficiency, combined, Autosomal recessive	0	1473	46	3	0	52	0.0173449	.	.	.	715141	not_specified|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0036	0.00319489	0.0044	0.0009	0.0029	0.0002	0.0003	0.0051	0.0024	0.0085	0.0040103	620	154602	rs138205062	0.0032	0.0032	0.0030	0.0035	0.0097	0.0032	0.0031	0.0077	0.0070	0.0003	0.0029	0.0307	7.557e-05	0.0002	0.0097	0.0025	0.0046	0.0077	0.0027	0.0027	0.0027	0.0028	0.0089	0.0025	0.0024	0.0068	0.0061	0.0005	0.0011	0.0024	0.0308	0	0.0002	0.0170	0.0028	0.0043	0.0089	0.001	0.78490	D	0.047	0.48855	D	1.0	0.90584	D	0.953	0.69275	D	0.000529	0.43581	D	0.191670	0.999913	0.22847	N	2.495	0.72670	M	1.84	0.24656	T	-6.24	0.91653	D	0.519	0.54932	-0.9274	0.44516	T	0.106	0.38808	T	10	0.019373447	0.00432	T	.	.	.	0.197	0.47942	.	.	0.415313616471	0.41148	0.8682073029833872	0.86785	0.065644791509	0.07326	0.42916893959	0.29095	T	0.236001	0.60339	T	-0.299973	0.08661	T	-0.198399	0.54798	T	0.0429254642760061	0.04223	T	0.978802	0.92845	D	0.4533618	0.64254	0.5101485	0.71692	0.43992075	0.63398	0.51760584	0.72129	-9.475	0.71492	D	.	.	0.111	0.37914	B	.;.;.	.;.;.	5.004734	0.83070	27.9	0.99839277043859609	0.91972	0.16400	0.19371	N	AEFBI	0.551345	0.56345	D	0.0530719007377787	0.44284	2.705245	-0.132828435333843	0.34075	1.956122	1.31906305284255E-4	0.05486	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.16	1.68	0.23219	0.806000	0.26786	3.298000	0.37359	0.676000	0.76740	0.130000	0.23345	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.5675:0.4325	13.727	0.62249	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010585	0.005051	0.009511	0.014793	0.000000	0.008621	0.015337	0.007576	0.05263	2623.83	114	chr16	869948	.	G	A	2623.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.827;DP=813;ExcessHet=0.119;FS=1.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=2.12;SOR=0.593	GT:AD:DP:GQ:PL	0/1:48,66:114:99:1534,0,1042	17	0	2	0
chr16	1348409	1348409	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon33:c.G3278A:p.R1093H,BAIAP3:NM_001199097:exon34:c.G3386A:p.R1129H,BAIAP3:NM_001199098:exon34:c.G3317A:p.R1106H,BAIAP3:NM_001199099:exon34:c.G3302A:p.R1101H,BAIAP3:NM_001286464:exon34:c.G3437A:p.R1146H,BAIAP3:NM_003933:exon34:c.G3491A:p.R1164H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.428704596406	0.0004	.	0.0004	0.0004	9.369e-05	0.0002	0	0.0005	0.0013	6.472e-05	0.000304	47	154602	rs144447704	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0	0.0001	0	7.562e-05	0.0001	0	0.0003	0.0002	9.281e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0	0.0003	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-2.89	0.92007	D	-4.41	0.77391	D	0.775	0.82057	0.961	0.96555	D	0.874	0.95823	D	10	0.9377992	0.93107	D	0.428705	0.93938	D	0.733	0.90677	.	.	0.947073457736	0.94651	0.6884252086717967	0.68782	0.518477807778	0.49701	0.55025935173	0.45895	T	0.517104	0.83042	D	0.0543758	0.58904	T	0.172395	0.81551	D	0.6204833984375	0.37226	D	0.927907	0.73422	D	0.64814305	0.75264	0.43839455	0.67227	0.64814305	0.75266	0.43839455	0.67227	-9.073	0.68165	D	.	.	0.148	0.37783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.818871	0.78469	26.9	0.99902417480222672	0.97426	0.84474	0.43556	D	AEFBCI	0.702577	0.65890	D	0.620675657773082	0.74485	6.14052	0.506389110295016	0.68420	5.217454	0.999999999985286	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	2.483000	0.44891	8.515000	0.77403	0.676000	0.76740	0.885000	0.31090	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	14.977	0.70934	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	135	chr16	1348409	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=855;ExcessHet=0;FS=2.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.677;SOR=0.815	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1564,0,1632	18	0	1	0
chr16	1432702	1432710	GAGGAGGAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.109_117del:p.E45_E47del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs879106059	0.0039	0.0027	0.0038	0.0040	0.0176	0.0037	0.0036	0.0162	0.0156	0.0007	0.0024	0.0014	0.0176	0.0135	0.0015	0.0009	0.0030	0.0162	0.0030	0.0030	0.0022	0.0039	0.0186	0.0028	0.0027	0.0156	0.0144	0.0005	0	0.0019	0.0023	0.0186	0.0145	0	0.0011	0.0019	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3582.08	5	chr16	1432701	.	AGAGGAGGAG	A	3582.08	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=274;ExcessHet=0.6984;FS=2.465;InbreedingCoeff=0.0822;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.14;ReadPosRankSum=0;SOR=0.963	GT:AD:DP:GQ:PL	1/0:0,2:5:75:185,103,119	18	0	1	0
chr16	1809341	1809341	A	G	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_005326:exon9:c.T869C:p.V290A,HAGH:NM_001040427:exon10:c.T725C:p.V242A	.	12	1452	54	4	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0014	0.00599042	0.0047	9.653e-05	0.0013	0	0	0.0028	0.0066	0.0216	0.0041785	646	154602	rs151314474	0.0026	0.0026	0.0019	0.0033	0.0199	0.0025	0.0025	0.0191	0.0188	0.0003	0.0018	0.0121	2.519e-05	3.777e-05	0.0135	0.0012	0.0039	0.0199	0.0022	0.0022	0.0019	0.0026	0.0230	0.0021	0.0020	0.0195	0.0182	0.0003	0	0.0021	0.0098	0	0	0.0034	0.0020	0.0066	0.0230	0.325	0.25873	T	0.269	0.26226	T	0.271	0.31796	B	0.118	0.32088	B	0.179333	0.17147	N	0.556675	0.99999	0.81001	D	1.365	0.34158	L	-3.73	0.95458	D	-3.88	0.72710	D	0.234	0.53181	0.322	0.87901	D	0.690	0.89309	D	10	0.006383598	0.00144	T	.	.	.	0.568	0.82403	.	.	0.853297744544	0.85188	0.6005269816842213	0.59983	0.256767550364	0.28246	0.555836677551	0.46680	T	0.343914	0.71250	T	-0.0816589	0.39443	T	0.126846	0.78686	D	0.0902594041854258	0.11249	T	0.926607	0.72946	D	0.1953377	0.41318	0.30353233	0.56384	0.1953377	0.41318	0.30353233	0.56383	-9.225	0.69134	D	.	.	0.234	0.47382	B	.;.;.	.;.;.	4.108763	0.61322	24.3	0.9770966708406994	0.35489	0.95170	0.63696	D	AEFDBHCI	0.892467	0.82943	D	-0.0176703182364091	0.41055	2.448988	0.0806842467433379	0.43578	2.656657	0.999995011632823	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	8.375000	0.90028	9.197000	0.79161	0.756000	0.94297	0.972000	0.34453	1.000000	0.68203	0.038000	0.14061	1.0:0.0:0.0:0.0	14.132	0.64790	588	0.69043	Hydroxyacylglutathione hydrolase, C-terminal domain;Hydroxyacylglutathione hydrolase, 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	0.011581	0.005051	0.008152	0.014620	0.000000	0.025862	0.018293	0.000000	0.02632	1869.33	172	chr16	1809341	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.451;DP=812;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.109;SOR=0.952	GT:AD:DP:GQ:PL	0/1:87,85:172:99:1883,0,2173	18	0	1	0
chr16	2181209	2181209	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2159T:p.P720L	.	395	1122	5	0	0	5	0.00222321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0055	0.00399361	0.0090	0.0008	0.0051	0	0.0189	0.0129	0.012	0.0017	0.0061772	955	154602	rs188507692	0.0091	0.0090	0.0094	0.0087	0.0104	0.0089	0.0089	0.0102	0.0102	0.0017	0.0047	0.0060	2.537e-05	0.0115	0.0053	0.0104	0.0077	0.0015	0.0061	0.0061	0.0064	0.0058	0.0092	0.0058	0.0057	0.0086	0.0084	0.0014	0	0.0051	0.0072	0	0.0119	0.0102	0.0092	0.0047	0.0008	0.003	0.68238	D	0.097	0.39190	T	0.524	0.37583	P	0.138	0.33406	B	.	.	.	.	0.585028	0.31068	N	2.045	0.56016	M	-0.2	0.66113	T	-2.09	0.47683	N	0.245	0.27673	-0.6997	0.60453	T	0.123	0.42483	T	9	0.0057251453	0.00127	T	.	.	.	0.084	0.24469	.	.	0.570103631431	0.56676	0.1489817435468175	0.14820	0.402729145482	0.41217	0.734392762184	0.72149	T	0.010488	0.09467	T	-0.42315	0.01633	T	-0.371207	0.36748	T	0.0221631123262702	0.00927	T	0.844016	0.52137	T	0.07721624	0.17513	0.15638788	0.36617	0.07721624	0.17513	0.15638788	0.36616	-6.602	0.51068	T	.	.	0.109	0.20741	B	.	.	3.925597	0.57339	23.8	0.99249037727150702	0.56825	0.89328	0.49726	D	AEFDBI	0.378915	0.46213	N	0.116935023931342	0.47253	2.953605	0.186888898501984	0.49128	3.119793	0.425656624501399	0.20328	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.19	4.19	0.48645	2.919000	0.48534	11.722000	0.94835	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.103:0.0:0.897:0.0	9.109	0.35878	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006592	0.020833	0.008197	0.002959	0.000000	0.017241	0.003106	0.000000	0.02632	579.33	47	chr16	2181209	.	G	A	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=704;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.492;SOR=0.321	GT:AD:DP:GQ:PL	0/1:21,26:47:99:593,0,556	18	0	1	0
chr16	2235436	2235436	G	A	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288778:exon12:c.G1688A:p.R563Q,E4F1:NM_004424:exon14:c.G2219A:p.R740Q	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.012961150524	0.0044	0.00259585	0.0050	0.0005	0.0032	0	0.0057	0.0078	0.0048	0.0004	0.0050517	781	154602	rs138375156	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0069	0.0013	0.0044	0.0063	2.519e-05	0.0041	0.0045	0.0071	0.0060	0.0002	0.0046	0.0046	0.0048	0.0043	0.0069	0.0043	0.0042	0.0064	0.0062	0.0011	0	0.0067	0.0072	0	0.0041	0.0102	0.0069	0.0043	0	0.084	0.39097	T	0.548	0.12812	T	0.052	0.22494	B	0.006	0.12133	B	0.022108	0.26699	N	0.355876	1	0.81001	D	1.61	0.41143	L	1.3	0.35590	T	-0.29	0.11728	N	0.492	0.52563	-1.0926	0.05112	T	0.031	0.13286	T	10	0.005156547	0.00112	T	0.012961	0.31981	T	0.097	0.27909	.	.	0.571828761226	0.56849	0.49463377214551035	0.49384	0.471285008066	0.46396	0.399411261082	0.24987	T	0.05161	0.28927	T	-0.419165	0.01732	T	-0.365483	0.37417	T	0.0155301316766612	0.00352	T	0.863414	0.55914	D	0.050063767	0.08988	0.043875284	0.05557	0.050063767	0.08988	0.043875284	0.05557	-0.355	0.00502	T	.	.	0.102	0.19478	B	.;.	.;.	3.646354	0.51727	23.1	0.99481996493330382	0.66959	0.92625	0.56153	D	AEFDGBHCI	0.212934	0.33857	N	-0.390851974946865	0.25793	1.402884	-0.244149044370716	0.29973	1.683682	0.999994911262162	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.2	0.48814	2.499000	0.45032	6.517000	0.55822	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.012000	0.09680	0.18:0.0:0.82:0.0	8.355	0.31486	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003532	0.010204	0.004076	0.002941	0.000000	0.008621	0.003049	0.000000	0.02632	2443.33	155	chr16	2235436	.	G	A	2443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.37;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.48;SOR=0.735	GT:AD:DP:GQ:PL	0/1:73,82:155:99:2457,0,1743	18	0	1	0
chr16	2530767	2530767	C	A	exonic	CEMP1	.	nonsynonymous SNV	CEMP1:NM_001048212:exon1:c.G307T:p.A103S	.	366	1153	1	2	0	5	0.00216357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00465867387801	.	0.00159744	0.0009	0	0	0	0	0	0	0.0064	0.0007309	113	154602	rs535834483	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0058	0.0057	0	0	0	0	0	0	8.994e-07	0.0006	0.0063	0.0002	0.0002	0.0001	0.0003	0.0070	0.0002	0.0001	0.0052	0.0045	2.407e-05	0	0	0	0	0	0	0	0	0.0070	.	.	.	.	.	.	0.833	0.46172	P	0.556	0.49411	P	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	0.57	0.54347	T	-3.0	0.62343	D	0.069	0.04188	-1.0053	0.28368	T	0.089	0.34160	T	9	0.004079193	0.00080	T	0.004659	0.11566	T	.	.	0.254	0.19378	0.302459207581	0.29844	0.010565041243008824	0.01017	.	.	0.30573797226	0.11262	T	0.067472	0.33211	T	-0.643136	0.00080	T	-0.694123	0.06153	T	0.136744257976883	0.15991	T	0.268373	0.04464	T	0.38712102	0.59827	0.20414275	0.44525	0.38712102	0.59828	0.20414275	0.44524	-4.044	0.24460	T	.	.	0.154	0.34049	B	.	.	0.571493	0.09400	6.180	0.56491433003601443	0.05564	0.05413	0.11283	N	AEFBCI	0.044776	0.07245	N	-0.987216038813013	0.08875	0.4178824	-1.19445093197293	0.06001	0.2876134	0.999993881563745	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	1.86	-2.23	0.06539	-1.712000	0.01985	0.000000	0.13247	-0.180000	0.10397	0.000000	0.06391	0.049000	0.21787	0.000000	0.00833	0.0:0.3083:0.5283:0.1633	4.877	0.13021	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1961.33	139	chr16	2530767	.	C	A	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=770;ExcessHet=0;FS=6.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=2.27;SOR=0.61	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1975,0,1720	18	0	1	0
chr16	3013922	3013922	C	G	exonic	CLDN9	.	nonsynonymous SNV	CLDN9:NM_020982:exon1:c.C560G:p.P187R	.	416	1105	0	1	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0766403176354	.	.	7.46e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs748261167	3.277e-05	3.283e-05	1.524e-05	5.052e-05	0.0006	2.525e-05	2.263e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0006	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.203	0.20154	T	0.215	0.26306	T	0.205	0.29827	B	0.134	0.33146	B	0.000001	0.84330	D	0.000000	0.913404	0.36472	D	1.645	0.42016	L	-1.65	0.82625	D	-2.57	0.55501	D	0.438	0.47672	-0.7136	0.59776	T	0.280	0.65189	T	10	0.16418204	0.30724	T	0.07664	0.72580	D	0.288	0.60691	0.341	0.33302	0.620522651735	0.61745	0.6165698925581137	0.61588	0.023896743837	0.02427	0.450939059258	0.32072	T	0.485474	0.81236	T	-0.253324	0.13694	T	-0.244175	0.50389	T	0.0962222341412744	0.11936	T	0.323368	0.06588	T	0.109961666	0.25994	0.14590435	0.34587	0.109961666	0.25994	0.14590435	0.34586	-3.819	0.21089	T	.	.	0.081	0.08272	B	.	.	2.856685	0.37735	20.6	0.94038628554478354	0.24158	0.70671	0.34687	D	AEFGBHCI	0.529953	0.55085	D	-0.598796499817019	0.18982	0.9898763	-0.461045977974291	0.23235	1.26612	0.999999998829032	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.42	3.47	0.38831	4.312000	0.58946	.	.	-0.172000	0.11096	0.954000	0.33273	1.000000	0.68203	0.144000	0.20092	0.0:0.9037:0.0:0.0963	10.419	0.43527	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1719.33	104	chr16	3013922	.	C	G	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=749;ExcessHet=0;FS=7.98;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.897;SOR=1.316	GT:AD:DP:GQ:PL	0/1:39,65:104:99:1733,0,781	18	0	1	0
chr16	3089978	3089978	G	A	exonic	ZSCAN10	.	stopgain	ZSCAN10:NM_001365273:exon4:c.C274T:p.Q92X,ZSCAN10:NM_001282415:exon5:c.C274T:p.Q92X,ZSCAN10:NM_001282416:exon5:c.C1045T:p.Q349X,ZSCAN10:NM_001365272:exon5:c.C910T:p.Q304X,ZSCAN10:NM_032805:exon6:c.C1456T:p.Q486X	.	433	1088	0	1	0	2	0.000918274	.	.	.	3494609	Otofacial_neurodevelopmental_syndrome	MONDO:MONDO:0975705,MedGen:C5935642,OMIM:620910	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs765722072	3.151e-05	3.352e-05	1.416e-05	4.927e-05	0.0005	2.388e-05	2.127e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.037035	0.24450	N	0.294386	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.101	0.10056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106258	0.64960	D	0.289	0.87641	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	7.822963	0.96896	36	0.99314064862530371	0.59129	0.48260	0.28167	N	AEFBCI	0.269753	0.38596	N	0.469175853036243	0.65301	4.805056	0.25621532278434	0.53002	3.471604	0.891697482974362	0.25866	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.91	2.9	0.32809	-0.187000	0.09652	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.6858:0.3142	11.919	0.52066	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	252.33	34	chr16	3089978	.	G	A	252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.036;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,12:34:99:266,0,604	18	0	1	0
chr16	3300229	3300229	A	C	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.T386G:p.F129C	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.0272114114362	.	0.00139776	0.0012	9.636e-05	0.0002	0	0	0	0.0011	0.0088	0.0010155	157	154602	rs201630933	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	2.987e-05	0	0	0	0	0	8.993e-07	0.0004	0.0083	0.0003	0.0003	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	2.406e-05	0	0	0	0	0	0	0	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000563	0.43250	U	0.000000	0.928996	0.36912	D	3.995	0.96723	H	-0.05	0.63403	T	-7.26	0.94377	D	0.83	0.82559	0.169	0.85375	D	0.482	0.80220	T	10	0.078799814	0.12602	T	0.027211	0.50045	D	0.677	0.88109	0.91	0.98190	0.52463718601	0.52109	0.7092695697347696	0.70868	0.466260999691	0.46036	0.758674144745	0.75733	T	0.846586	0.96469	D	0.0238129	0.54895	T	0.267685	0.86457	D	0.360369633090314	0.27424	T	0.549445	0.18903	T	0.7645939	0.81725	0.6622275	0.80205	0.7645939	0.81727	0.6622275	0.80206	-9.28	0.69481	D	.	.	0.956	0.87601	P	.	.	4.701075	0.75423	26.3	0.98946686612834656	0.49055	0.96164	0.67826	D	AEFBI	0.477575	0.52050	N	0.732730635406901	0.81779	7.602528	0.635312387228641	0.77523	6.695462	0.999326969271341	0.39149	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.59	4.59	0.56297	4.708000	0.61548	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	10.364	0.43195	774	0.48577	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3681.33	282	chr16	3300229	.	A	C	3681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.793;DP=922;ExcessHet=0;FS=4.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.618;SOR=0.806	GT:AD:DP:GQ:PL	0/1:143,139:282:99:3695,0,3902	18	0	1	0
chr16	3608702	3608704	CTT	-	exonic	SLX4	.	nonframeshift deletion	SLX4:NM_032444:exon2:c.261_263del:p.R87del	Fanconi anemia, complementation group P, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	1157735	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0005	0	0	0	0	1.498e-05	0.0033	0.0036	0.0004398	68	154602	rs536289991	0.0002	0.0002	0.0002	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0	5.396e-05	0.0003	0.0030	0.0001	0.0001	7.709e-05	0.0002	0.0037	8.66e-05	7.252e-05	0.0024	0.0020	0	0	0	0	0	0	0	2.94e-05	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3126.29	188	chr16	3608701	.	GCTT	G	3126.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=851;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0;QD=16.63;ReadPosRankSum=0.034;SOR=0.62	GT:AD:DP:GQ:PL	0/1:104,84:188:99:3140,0,4036	18	0	1	0
chr16	3666024	3666024	A	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon11:c.T1171A:p.Y391N,TRAP1:NM_016292:exon12:c.T1330A:p.Y444N	.	428	1089	5	0	0	5	0.00229043	.	.	.	550041	TRAP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.642	0.0998326846705	0.0066	0.00199681	0.0047	0.0022	0.0020	0	0.0009	0.0074	0.0011	0.0012	0.0048835	755	154602	rs61756351	0.0075	0.0075	0.0078	0.0071	0.0090	0.0074	0.0073	0.0089	0.0088	0.0015	0.0024	0.0042	0	0.0021	0.0005	0.0090	0.0071	0.0011	0.0047	0.0047	0.0050	0.0043	0.0081	0.0044	0.0043	0.0076	0.0074	0.0017	0	0.0028	0.0040	0	0.0017	0	0.0081	0.0052	0.0012	0.004	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.985	0.76457	D	0.000051	0.53742	D	0.130829	1	0.81001	D	3.135	0.88152	M	2.9	0.10101	T	-7.84	0.96032	D	0.958	0.97207	-0.9271	0.44559	T	0.084	0.32786	T	10	0.022699267	0.00574	T	0.099833	0.77174	D	0.642	0.86384	.	.	0.492200611407	0.48855	0.8898202667928607	0.88952	0.112827264345	0.12733	0.760841012001	0.76054	T	0.396374	0.75502	T	-0.0845655	0.38970	T	0.116139	0.77977	D	0.0632158253167541	0.07664	T	0.984202	0.96411	D	0.96408725	0.97689	0.9319283	0.97227	0.96408725	0.97689	0.9319283	0.97227	-12.254	0.86066	D	0.5153874321856869	0.58849	0.473	0.72070	A	.;.;.	.;.;.	4.347056	0.66733	25.0	0.99168518606783984	0.54326	0.99624	0.98098	D	AEFBI	0.921353	0.89470	D	0.872593854108381	0.90354	10.36628	0.810796392552748	0.90534	10.45128	0.999857045511393	0.44174	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.672000	0.90914	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	1.0:0.0:0.0:0.0	15.291	0.73567	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	981.33	95	chr16	3666024	.	A	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=719;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.638;SOR=0.852	GT:AD:DP:GQ:PL	0/1:51,44:95:99:995,0,1227	18	0	1	0
chr16	4360972	4360972	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon17:c.C1633T:p.R545W,CORO7:NM_001201472:exon19:c.C1834T:p.R612W,CORO7-PAM16:NM_001201479:exon19:c.C1888T:p.R630W,CORO7:NM_001351729:exon19:c.C1228T:p.R410W,CORO7:NM_024535:exon19:c.C1888T:p.R630W	.	410	1111	0	1	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0267530113607	.	0.000599042	0.0004	0	8.658e-05	0.0002	0	0	0	0.0025	0.0003105	48	154602	rs140152390	0.0002	0.0002	9.131e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	2.236e-05	0	2.519e-05	0	0.0002	5.396e-06	0.0002	0.0026	0.0001	0.0001	8.999e-05	0.0002	0.0031	8.167e-05	6.723e-05	0.0019	0.0015	4.817e-05	0	6.536e-05	0	0.0002	0	0	0	0	0.0031	0.014	0.53172	D	0.021	0.58089	D	0.993	0.77913	D	0.545	0.54536	P	0.018090	0.01480	N	2.308880	1	0.81001	D	1.715	0.44382	L	2.48	0.14657	T	-2.76	0.58569	D	0.507	0.56231	-0.9960	0.31028	T	0.071	0.29066	T	10	0.03255555	0.01410	T	0.026753	0.49630	D	0.159	0.41286	0.633	0.76921	0.59385865776	0.59063	0.5378400484982784	0.53709	0.330641003172	0.43001	0.241485357285	0.02925	T	0.112608	0.42901	T	-0.474898	0.00793	T	-0.461102	0.26478	T	0.185111274329386	0.19552	T	.	.	.	0.06446882	0.13681	0.04629565	0.06420	0.06446882	0.13680	0.04629565	0.06420	-7.01	0.54413	T	.	.	0.100	0.17232	B	.;.;.;.	.;.;.;.	3.394572	0.47017	22.4	0.99902841139704124	0.97426	0.36877	0.25634	N	AEFDGBCI	0.664800	0.63384	D	0.117269447708451	0.47269	2.954951	0.0341566679455019	0.41314	2.479904	0.970223383319746	0.29191	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.17	4.15	0.47978	1.887000	0.39332	3.619000	0.39279	0.667000	0.69007	0.658000	0.28243	1.000000	0.68203	0.077000	0.17074	0.0:0.311:0.4843:0.2047	7.172	0.24901	803	0.44167	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1402.33	97	chr16	4360972	.	G	A	1402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=744;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.39;SOR=0.796	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1416,0,1173	18	0	1	0
chr16	4701046	4701046	C	T	exonic	ANKS3	.	nonsynonymous SNV	ANKS3:NM_001324129:exon7:c.G689A:p.R230H,ANKS3:NM_001242929:exon8:c.G887A:p.R296H,ANKS3:NM_001308089:exon10:c.G821A:p.R274H,ANKS3:NM_001324130:exon10:c.G338A:p.R113H,ANKS3:NM_133450:exon11:c.G1208A:p.R403H	.	427	1091	4	0	0	4	0.00182983	.	.	.	2366544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0287770185849	0.0004	0.000399361	0.0003	0.0011	0.0003	0.0005	0	6.006e-05	0.0011	0.0005	0.0002652	41	154602	rs149148220	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0007	0.0004	0	0.0004	1.875e-05	0.0017	0.0002	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0007	0	0.0004	0	0	0.0001	0.0009	0	0.11	0.29158	T	0.553	0.33894	T	0.389	0.34565	B	0.057	0.26280	B	0.002668	0.36137	N	0.336131	1	0.08975	N	0	0.06538	N	3.07	0.38718	T	0.16	0.05810	N	0.165	0.17416	-1.0644	0.10689	T	0.068	0.27947	T	10	0.03035748	0.01162	T	0.028777	0.51400	D	0.121	0.33580	.	.	0.289474373501	0.28556	0.31922691450636087	0.31835	0.0234930241752	0.02381	0.233297437429	0.02221	T	0.001502	0.03998	T	-0.484821	0.00694	T	-0.509722	0.21343	T	0.0385095634390208	0.03423	T	0.814918	0.47234	T	0.036889322	0.04625	0.025553895	0.00604	0.036889322	0.04625	0.025553895	0.00604	-4.718	0.33622	T	.	.	0.072	0.09433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.056641	0.26148	17.02	0.93479607965023348	0.23275	0.79748	0.39579	D	AEFBCI	0.484869	0.52471	N	-0.498753610983386	0.22121	1.178996	-0.441315441061193	0.23796	1.29958	0.998355845715049	0.36814	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.71	4.76	0.60189	4.801000	0.62225	0.388000	0.17857	-0.176000	0.10722	0.958000	0.33488	0.000000	0.08366	0.001000	0.02609	0.0:0.9175:0.0:0.0825	11.727	0.50979	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1873.33	158	chr16	4701046	.	C	T	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.132;SOR=0.744	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1887,0,1677	18	0	1	0
chr16	11399491	11399491	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon52:c.G7742A:p.R2581Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971579899	3.65e-05	3.784e-05	1.644e-05	5.6e-05	0.0016	1.815e-05	1.342e-05	0.0006	0.0004	0	0	0	0	0	0	2.527e-05	0	0.0016	5.908e-05	5.906e-05	2.57e-05	9.396e-05	0.0014	3.075e-05	2.208e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06389147	0.08391	T	.	.	.	.	.	.	.	0.223847106136	0.22009	.	.	.	.	.	.	.	.	.	.	-0.288005	0.09837	T	-0.651476	0.08851	T	.	.	.	0.477152	0.14354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.	.	-0.677479	0.01373	0.078	0.85734344491443082	0.16078	0.18987	0.20482	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.72205399558439	0.22944	0.067872	0.01466	2	0.060609	0.00678	0	0.099915	0.03048	0	0.062806	0.01542	0	0.156243	0.27789	4.26	0.653	0.17000	-0.261000	0.08718	-3.248000	0.02936	-1.090000	0.01539	0.330000	0.25589	0.000000	0.08366	0.001000	0.02609	0.0:0.5496:0.0:0.4504	5.234	0.14755	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	735.33	54	chr16	11399491	.	C	T	735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.796;SOR=0.693	GT:AD:DP:GQ:PL	0/1:27,27:54:99:749,0,667	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:126,77:234:99:299,0,1976	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,15:75:99:.:.:183,0,2275:.	11	0	8	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1294.52	71	chr16	14667711	.	C	CTGGG	1294.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,7:71:56:.:.:137,0,2277:.	16	0	3	0
chr16	15363711	15363711	C	0	exonic	NPIPA5	.	.	.	.	475	864	156	18	9	201	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5464.38	121	chr16	15363711	.	C	*	5464.38	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.868;DP=1286;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=0.535;QD=8.45;ReadPosRankSum=-0.732;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,44:121:99:0|1:15363699_AGTGAGCAGACACACTCGGGAGGTGTCTTGAGAT_A:1592,0,3100:15363699	17	0	2	0
chr16	15363716	15363716	G	0	exonic	NPIPA5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32.88	121	chr16	15363716	.	G	*	32.88	.	AC=2;AF=0.056;AN=36;DP=1289;ExcessHet=0;FS=8.372;InbreedingCoeff=0.528;MLEAC=2;MLEAF=0.056;MQ=35.94;QD=0.25;SOR=1.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,44:121:99:0|1:15363699_AGTGAGCAGACACACTCGGGAGGTGTCTTGAGAT_A:1592,0,3100:15363699	16	0	2	1
chr16	28342774	28342774	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T1111C:p.S371P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00216151588899	.	.	1.774e-05	0	0	0	0	0	0	8.604e-05	3.84e-05	1	26028	rs609563	4.841e-06	5.952e-05	8.242e-06	1.393e-06	3.031e-05	2.01e-06	1.3e-06	1.95e-06	1.28e-06	3.031e-05	0	0	0	0	0	5.435e-06	0	0	2.632e-05	8.535e-05	3.862e-05	1.346e-05	6.558e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.409e-05	0	6.558e-05	0	0	0	0	2.942e-05	0	0	0.205	0.20002	T	0.12	0.35970	T	0.0	0.17989	B	0.001	0.17295	B	.	.	.	.	1	0.08975	N	0.44	0.12706	N	0.82	0.48142	T	-1.45	0.35597	N	0.161	0.16864	-1.0403	0.17223	T	0.043	0.18535	T	7	0.039850175	0.02507	T	0.002162	0.04043	T	0.010	0.01040	0.293	0.25560	0.240615537116	0.23683	0.0033971902627879685	0.00317	1.8671837485	0.92471	.	.	.	0.008432	0.07741	T	-0.273449	0.11375	T	-0.630567	0.10373	T	0.0449470332210512	0.04592	T	0.344566	0.07649	T	0.3198724	0.54629	0.27713367	0.53664	0.3198724	0.54629	0.27713367	0.53663	-3.307	0.13828	T	.	.	0.076	0.05935	B	.;.	.;.	-0.531973	0.01766	0.134	0.064745547166511541	0.00024	0.00021	0.00226	N	AEFI	0.021708	0.00997	N	-1.96109915951264	0.00256	0.01098189	-2.04011938844706	0.00251	0.01108806	1.38657288614749E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.781000	0.01871	-1.958000	0.04434	-1.634000	0.00849	0.003000	0.16062	0.001000	0.17328	0.004000	0.06068	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	213.33	86	chr16	28342774	.	A	G	213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=2285;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.45;MQRankSum=-4.568;QD=2.48;ReadPosRankSum=2.48;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,11:86:99:0|1:28342756_G_A:227,0,3115:28342756	18	0	1	0
chr16	28342777	28342777	G	T	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.C1108A:p.Q370K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00157827598891	.	.	1.791e-05	0	0	0	0	0	0	8.63e-05	3.84e-05	1	26028	rs374667	8.992e-06	6.431e-05	1.236e-05	5.572e-06	3.035e-05	5.02e-06	3.87e-06	5.35e-06	3.91e-06	3.035e-05	0	0	2.621e-05	0	0	9.965e-06	0	0	3.289e-05	8.536e-05	3.862e-05	2.691e-05	6.556e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.411e-05	0	6.556e-05	0	0	0	0	4.412e-05	0	0	0.11	0.29158	T	0.387	0.15650	T	0.032	0.35064	B	0.011	0.25434	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.98	0.42122	T	-0.59	0.17624	N	0.137	0.15749	-1.0200	0.23715	T	0.030	0.13023	T	7	0.050103486	0.04695	T	0.001578	0.02523	T	0.091	0.26358	0.201	0.11522	0.168254554758	0.16434	0.004059632104610947	0.00380	2.09590049371	0.94772	.	.	.	0.003014	0.02412	T	-0.279764	0.10692	T	-0.639638	0.09696	T	0.0334026783978033	0.02537	T	0.286271	0.05268	T	0.30386877	0.53249	0.17416118	0.39793	0.30386877	0.53249	0.17416118	0.39792	-6.004	0.46313	T	.	.	0.108	0.20274	B	.;.	.;.	-0.275245	0.02728	0.361	0.34308514377341381	0.02091	0.00319	0.01677	N	AEFI	0.043403	0.06858	N	-1.44544798352074	0.02253	0.09927635	-1.52298783894148	0.02168	0.0993006	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.153000	0.15315	0.093000	0.17603	0.005000	0.17040	0.001000	0.17328	0.005000	0.06747	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	213.33	86	chr16	28342777	.	G	T	213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=2285;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.45;MQRankSum=-4.568;QD=2.48;ReadPosRankSum=2.35;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,11:86:99:0|1:28342756_G_A:227,0,3115:28342756	18	0	1	0
chr16	28342824	28342824	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T1061C:p.V354A	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00387978554967	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs4608339	0.0001	0.0013	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0002	0.0005	3.978e-05	0.0003	0.0011	0	6.574e-05	0.0002	0.0002	0.0003	0.0010	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	0.0007	0	0.0002	0.0005	0.0006	1.0	0.00964	T	0.624	0.07518	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	-1.87	0.00254	N	0.85	0.47130	T	1.21	0.01064	N	0.041	0.02759	-1.0149	0.25368	T	0.038	0.16591	T	7	0.017230392	0.00367	T	0.00388	0.09117	T	0.025	0.05312	0.26	0.20315	0.158540857583	0.15491	0.004415434322039441	0.00415	1.78518323065	0.91433	.	.	.	6.04E-4	0.00251	T	-0.586422	0.00176	T	-0.815702	0.01541	T	0.0314224636618619	0.02213	T	0.29697	0.05508	T	0.14319988	0.32921	0.36184856	0.61601	0.14319988	0.32921	0.36184856	0.61601	-2.954	0.09694	T	.	.	0.073	0.06571	B	.;.	.;.	-1.020628	0.00742	0.023	0.17355450198602182	0.00502	0.00005	0.00104	N	AEFI	0.014215	0.00217	N	-2.06907666790497	0.00150	0.006406668	-2.13151826877235	0.00159	0.006993625	1.38286038433959E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.888000	0.01707	-3.374000	0.02836	-2.074000	0.00407	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	351.33	53	chr16	28342824	.	A	G	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=2263;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-3.46;QD=6.63;ReadPosRankSum=-2.325;SOR=1.153	GT:AD:DP:GQ:PL	0/1:45,8:53:99:365,0,2095	18	0	1	0
chr16	28932950	28932950	T	G	exonic	CD19	.	nonsynonymous SNV	CD19:NM_001385732:exon2:c.T128G:p.L43R,CD19:NM_001178098:exon3:c.T395G:p.L132R,CD19:NM_001770:exon3:c.T395G:p.L132R	Immunodeficiency, common variable, 3, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	341123	Immunodeficiency,_common_variable,_3|not_provided	MONDO:MONDO:0013283,MedGen:C3150738,OMIM:613493,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0171490735058	0.0004	0.000798722	0.0021	0.0008	0.0010	0	0.0038	0.0030	0.0025	0.0008	0.0011061	171	154602	rs146795664	0.0014	0.0014	0.0015	0.0013	0.0016	0.0014	0.0013	0.0016	0.0015	0.0003	0.0003	3.861e-05	0	0.0018	0.0016	0.0016	0.0009	0.0006	0.0009	0.0009	0.0008	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0.0022	0.0004	0	0	0.0023	0	0.0014	0.0009	0.0006	0.09	0.31987	T	0.425	0.13912	T	0.234	0.30717	B	0.06	0.26717	B	0.339731	0.04180	N	1.501650	1	0.08975	N	1.15	0.29295	L	1.22	0.37052	T	-2.66	0.56945	D	0.074	0.04790	-1.0284	0.20973	T	0.054	0.22731	T	10	0.005671203	0.00126	T	0.017149	0.38730	T	0.011	0.01250	.	.	0.220282294035	0.21616	0.3914835461063736	0.39063	0.362902455955	0.37930	0.24262291193	0.03031	T	0.508399	0.82570	D	-0.563012	0.00244	T	-0.585182	0.14086	T	0.0203081661200856	0.00731	T	0.39926	0.10144	T	0.22120807	0.44692	0.2367411	0.48953	0.40768832	0.61262	0.21182767	0.45626	-3.283	0.13583	T	0.5106336854894782	0.58443	0.071	0.04847	B	.;.;.	.;.;.	-0.545514	0.01726	0.128	0.66417886189451081	0.08053	0.02947	0.07774	N	ALL	0.069515	0.13762	N	-1.18463826909659	0.05232	0.2380287	-1.27509708751677	0.04769	0.2257717	0.999996912049621	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	-3.66	0.04200	-1.210000	0.03109	0.095000	0.14569	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1453:0.4893:0.1462:0.2193	2.107	0.03469	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1984.33	151	chr16	28932950	.	T	G	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.434;DP=810;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/1:66,85:151:99:1998,0,1735	18	0	1	0
chr16	29382002	29382002	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2930T:p.A977V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0021345285967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.09717	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-0.44	0.14588	N	0.104	0.08786	-0.9795	0.35117	T	0.034	0.14683	T	5	0.07665077	0.12002	T	0.002135	0.03962	T	0.067	0.19503	0.09	0.01023	0.0666544352282	0.05500	0.013740256201282728	0.01332	.	.	.	.	.	0.007742	0.07126	T	-0.37815	0.03200	T	-0.780963	0.02424	T	0.150951476879838	0.17179	T	0.713829	0.32570	T	0.040847592	0.05905	0.0778633	0.17384	0.040847592	0.05905	0.0778633	0.17384	-9.945	0.73582	D	.	.	0.396	0.59341	A	.	.	1.377971	0.17892	13.43	0.99610946377811327	0.74813	0.00167	0.00991	N	AEFI	0.033339	0.03935	N	-0.775753352386576	0.13944	0.6906965	-0.94149919849622	0.11121	0.5646177	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-7.618000	0.01119	-1.093000	0.01529	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	716.33	46	chr16	29382002	.	G	A	716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=694;ExcessHet=0;FS=5.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.33;MQRankSum=0.436;QD=15.57;ReadPosRankSum=-0.924;SOR=0.157	GT:AD:DP:GQ:PL	0/1:18,28:46:99:730,0,473	18	0	1	0
chr16	29382128	29382128	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2804T:p.A935V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00148240185641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.303e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-0.58	0.17417	N	0.072	0.04547	-0.9998	0.29973	T	0.030	0.13067	T	5	0.06696418	0.09260	T	0.001482	0.02267	T	0.048	0.13305	0.096	0.01287	0.0716867268079	0.06686	0.02084036746297857	0.02037	.	.	.	.	.	0.010228	0.09253	T	-0.376122	0.03295	T	-0.778049	0.02513	T	0.1696343341406	0.18555	T	0.725627	0.33984	T	0.060289077	0.12353	0.112054944	0.27033	0.060289077	0.12353	0.112054944	0.27033	-9.639	0.71721	D	.	.	0.405	0.59854	A	.	.	1.057247	0.14390	10.96	0.99629635389219517	0.75959	0.00180	0.01055	N	AEFBI	0.029571	0.02817	N	-0.729704053452214	0.15190	0.7633865	-0.884023535934803	0.12471	0.6417424	1.09582168514057E-6	0.01202	0.553676	0.25195	0	0.671659	0.64595	1	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.694000	0.04901	0.172000	0.17770	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	36	chr16	29382128	.	G	A	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.16;MQRankSum=-0.526;QD=13.2;ReadPosRankSum=-1.254;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:489,0,501	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	477.79	299	chr16	29383374	.	CA	C	477.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.687;DP=1416;ExcessHet=0.119;FS=3.356;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.76;MQRankSum=2.63;QD=1.04;ReadPosRankSum=-0.895;SOR=1.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,252:299:99:0|1:29383374_CA_C:231,0,1005:29383374	17	0	2	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,16:122:99:.:.:516,0,3975:.	5	0	12	2
chr16	29991356	29991356	A	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_004783:exon19:c.A2938T:p.N980Y	.	417	1101	4	0	0	4	0.00181324	.	.	.	3205226	TAOK2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.039	0.0518951543291	0.0014	0.000599042	0.0025	0.0005	0.0013	0	0.0057	0.0037	0.0037	0	0.0017723	274	154602	rs80174893	0.0022	0.0022	0.0022	0.0022	0.0024	0.0022	0.0021	0.0024	0.0023	0.0005	0.0010	0.0044	0	0.0040	0.0018	0.0024	0.0019	3.572e-05	0.0020	0.0020	0.0019	0.0021	0.0029	0.0018	0.0018	0.0026	0.0024	0.0004	0	0.0014	0.0035	0	0.0051	0.0068	0.0029	0.0019	0.0002	0.104	0.29959	T	0.172	0.30241	T	0.064	0.23455	B	0.056	0.26147	B	.	.	.	.	0.999925	0.19486	N	.	.	.	-0.44	0.69777	T	-0.7	0.19933	N	0.289	0.32701	-1.0010	0.29631	T	0.113	0.40307	T	8	0.00736326	0.00167	T	0.051895	0.64849	D	0.039	0.10176	.	.	0.459478837667	0.45574	.	.	.	.	.	.	.	.	.	.	-0.42807	0.01523	T	-0.388507	0.34726	T	0.0167000253837451	0.00428	T	0.457954	0.13172	T	.	.	.	.	.	.	.	.	-2.831	0.08472	T	.	.	0.146	0.32324	B	.	.	2.940613	0.39093	20.9	0.95685774336737273	0.27554	0.90574	0.51863	D	AEFBI	0.472754	0.51773	N	-0.230944877761153	0.31870	1.79145	-0.0269330247212534	0.38503	2.269354	0.973857849343751	0.29492	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.83	4.83	0.61880	3.281000	0.51389	11.201000	0.89033	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.7305:0.0:0.0936:0.1758	4.359	0.10628	74	0.96871	.	.	.	.	.	.	Likely benign	0	0	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	0.001010	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	208.33	40	chr16	29991356	.	A	T	208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=635;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=0.047;SOR=0.307	GT:AD:DP:GQ:PL	0/1:30,10:40:99:222,0,811	18	0	1	0
chr16	29993266	29993266	C	T	exonic	HIRIP3	.	nonsynonymous SNV	HIRIP3:NM_003609:exon7:c.G1612A:p.A538T	.	.	.	.	.	.	.	.	.	.	.	2324956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0136952844338	.	.	8.915e-06	0	0	0	0	1.554e-05	0	0	2.59e-05	4	154602	rs752942715	1.634e-05	3.489e-05	1.544e-05	1.727e-05	6.353e-05	1.088e-05	9.09e-06	1.693e-05	1.004e-05	6.353e-05	2.79e-05	0	0	1.93e-05	0	1.383e-05	0	5.113e-05	1.973e-05	1.97e-05	1.285e-05	2.692e-05	6.546e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.832e-05	0	6.546e-05	0	0	0	0	0	0	0	0.167	0.23095	T	0.151	0.32355	T	0.892	0.49086	P	0.212	0.37394	B	0.058354	0.22409	N	0.439260	0.999139	0.46149	D	1.59	0.40313	L	1.47	0.31987	T	-0.85	0.23156	N	0.06	0.03175	-1.1003	0.04055	T	0.038	0.16333	T	10	0.15106073	0.28560	T	0.013695	0.33283	T	0.063	0.18251	0.182	0.09004	0.484182897458	0.48051	0.22417491053578606	0.22332	0.227242799613	0.25277	0.376698195934	0.21788	T	0.007442	0.06846	T	-0.309028	0.07834	T	-0.681674	0.06882	T	0.577540338039398	0.35524	D	0.676232	0.28483	T	0.04535218	0.07408	0.06528679	0.13209	0.04535218	0.07408	0.06528679	0.13208	-4.8	0.34591	T	.	.	0.106	0.19679	B	.	.	2.434365	0.31322	18.71	0.99306543970762318	0.58832	0.46189	0.27705	N	AEFDBI	0.102343	0.20533	N	-0.228076645778664	0.31984	1.799121	-0.224524830422403	0.30660	1.728186	0.999999832383833	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.636168	0.56350	0	.	.	4.82	3.87	0.43823	0.803000	0.26744	5.113000	0.47528	0.599000	0.40250	0.555000	0.27385	1.000000	0.68203	0.197000	0.21808	0.0:0.61:0.39:0.0	11.426	0.49252	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2507.33	182	chr16	29993266	.	C	T	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=800;ExcessHet=0;FS=1.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.514;SOR=0.808	GT:AD:DP:GQ:PL	0/1:87,95:182:99:2521,0,2122	18	0	1	0
chr16	30069588	30069588	T	G	exonic	ALDOA	.	nonsynonymous SNV	ALDOA:NM_001127617:exon7:c.T714G:p.H238Q,ALDOA:NM_184041:exon7:c.T714G:p.H238Q,ALDOA:NM_184043:exon7:c.T714G:p.H238Q,ALDOA:NM_001243177:exon8:c.T876G:p.H292Q	Glycogen storage disease XII, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	1902722	HNSHA_due_to_aldolase_A_deficiency	MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.0583844828592	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs757739728	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	0	0	0	0	0.0007	9.892e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.719	0.06011	T	0.719	0.05901	T	0.002	0.09854	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	0.7	0.18542	N	-1.96	0.85091	D	-2.62	0.58569	D	0.398	0.45047	-0.8826	0.49553	T	0.279	0.65129	T	10	0.19132113	0.34814	T	0.058384	0.67299	D	0.394	0.70924	0.32	0.29902	0.617803836188	0.61470	0.5250713938625199	0.52431	.	.	0.731713533401	0.71757	T	0.697088	0.91244	D	-0.021008	0.48709	T	-0.252467	0.49573	T	0.069595918050248	0.08594	T	0.767723	0.39623	T	0.41106007	0.61490	0.3644174	0.61810	0.41106007	0.61491	0.3644174	0.61810	-3.802	0.20879	T	.	.	0.410	0.61480	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140018	0.03411	0.618	0.74906056284899747	0.10871	0.62837	0.31903	D	AEFDBHCIJ	0.782616	0.71385	D	-1.52130698026422	0.01710	0.07483863	-1.45806829928289	0.02698	0.124568	0.999999989737133	0.74766	0.722319	0.85440	0	0.67197	0.64623	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.91	-6.61	0.01652	-1.334000	0.02771	-2.790000	0.03358	-0.831000	0.02872	0.001000	0.13787	0.000000	0.08366	0.967000	0.53440	0.0:0.5811:0.0:0.4189	16.757	0.85363	96	0.96030	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	156	chr16	30069588	.	T	G	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.895;DP=809;ExcessHet=0;FS=3.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.863;SOR=0.482	GT:AD:DP:GQ:PL	0/1:83,73:156:99:1928,0,2299	18	0	1	0
chr16	30069641	30069641	C	T	exonic	ALDOA	.	nonsynonymous SNV	ALDOA:NM_001127617:exon7:c.C767T:p.A256V,ALDOA:NM_184041:exon7:c.C767T:p.A256V,ALDOA:NM_184043:exon7:c.C767T:p.A256V,ALDOA:NM_001243177:exon8:c.C929T:p.A310V	Glycogen storage disease XII, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1293178	not_provided|HNSHA_due_to_aldolase_A_deficiency	MedGen:C3661900|MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.725	0.1537659325	.	.	4.148e-05	0.0002	0	0.0001	0	1.507e-05	0	6.065e-05	3.23e-05	5	154602	rs201658390	2.669e-05	2.668e-05	2.042e-05	3.301e-05	0.0002	1.998e-05	1.754e-05	0.0001	0.0001	5.974e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0	0.0002	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.827e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	2.94e-05	0	0	0.051	0.41096	T	0.319	0.22426	T	0.585	0.38912	P	0.084	0.29270	B	0.000000	0.84330	N	0.047613	1	0.81001	D	2.04	0.55661	M	-2.12	0.86283	D	-2.27	0.51811	N	0.699	0.70351	0.459	0.89964	D	0.687	0.89180	D	10	0.6690277	0.70600	D	0.153766	0.83498	D	0.725	0.90324	.	.	0.915446317744	0.91459	0.7305487787529904	0.72999	.	.	0.732154369354	0.71821	T	0.779994	0.94183	D	0.186532	0.72644	D	0.289843	0.87664	D	0.11820278472434	0.14253	T	0.90161	0.65919	D	0.62902933	0.74247	0.3840909	0.63358	0.62902933	0.74248	0.3840909	0.63358	-12.054	0.85113	D	.	.	0.664	0.71501	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.281850	0.65228	24.8	0.99873228258226787	0.95076	0.99434	0.95980	D	AEFDBHCI	0.964596	0.98676	D	0.435514042853291	0.63387	4.571382	0.559728631847813	0.72076	5.753299	1.0	0.98316	0.722319	0.85440	0	0.67197	0.64623	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.91	5.91	0.95240	7.836000	0.85003	5.984000	0.52218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	19.068	0.93102	96	0.96030	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1553.33	91	chr16	30069641	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=746;ExcessHet=0;FS=6.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.536;SOR=0.228	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1567,0,987	18	0	1	0
chr16	31476134	31476134	-	T	exonic	TGFB1I1	.	stopgain	TGFB1I1:NM_001042454:exon8:c.838dupT:p.E281*,TGFB1I1:NM_001164719:exon8:c.787dupT:p.E264*,TGFB1I1:NM_015927:exon8:c.787dupT:p.E264*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1440.29	105	chr16	31476134	.	C	CT	1440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.135;SOR=0.724	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1454,0,1476	18	0	1	0
chr16	50750108	50750108	C	G	exonic	CYLD	.	nonsynonymous SNV	CYLD:NM_001042355:exon3:c.C410G:p.S137C,CYLD:NM_001042412:exon3:c.C410G:p.S137C,CYLD:NM_001378743:exon3:c.C410G:p.S137C,CYLD:NM_001378744:exon3:c.C410G:p.S137C,CYLD:NM_001378747:exon3:c.C410G:p.S137C,CYLD:NM_001378748:exon3:c.C410G:p.S137C,CYLD:NM_001378749:exon3:c.C410G:p.S137C,CYLD:NM_001378751:exon3:c.C410G:p.S137C,CYLD:NM_001378752:exon3:c.C410G:p.S137C,CYLD:NM_001378753:exon3:c.C410G:p.S137C,CYLD:NM_001378745:exon4:c.C410G:p.S137C,CYLD:NM_001378746:exon4:c.C410G:p.S137C,CYLD:NM_001378750:exon4:c.C410G:p.S137C,CYLD:NM_015247:exon4:c.C410G:p.S137C	Brooke-Spiegler syndrome, Autosomal dominant;Cylindromatosis, familial, Autosomal dominant;Trichoepithelioma, multiple familial, 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.127612746693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175162652	3.42e-06	3.42e-06	0	6.876e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.026	0.62352	D	0.985	0.62325	D	0.77	0.60815	P	0.000004	0.62929	D	0.110455	1	0.81001	D	2.395	0.69210	M	-2.95	0.91903	D	-3.13	0.63901	D	0.304	0.41853	0.774	0.94094	D	0.846	0.94850	D	10	0.6569441	0.69929	D	0.127613	0.80944	D	0.515	0.79279	0.498	0.58835	0.822865565908	0.82119	0.47008372210570243	0.46927	1.06138964259	0.76487	0.611622333527	0.54546	T	0.073574	0.88480	T	0.168631	0.70996	D	0.00445038	0.70623	D	0.871336579322815	0.52123	D	0.950805	0.81197	D	0.073835224	0.16526	0.12462135	0.30035	0.073835224	0.16526	0.12462135	0.30034	-6.219	0.48077	T	0.5313824540883866	0.60220	0.149	0.39865	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.732224	0.76230	26.5	0.99240807436357492	0.56533	0.98787	0.86849	D	AEFGBI	0.833825	0.75197	D	0.825820693291595	0.87690	9.306791	0.842347704757735	0.92561	11.49824	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.310000	0.78255	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.868	0.96822	534	0.73357	.;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich 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	.	.	.	.	.	.	.	.	0.02632	989.33	86	chr16	50750108	.	C	G	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=727;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.538;SOR=0.918	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1003,0,1294	18	0	1	0
chr16	53645729	53645729	G	C	exonic	RPGRIP1L	.	nonsynonymous SNV	RPGRIP1L:NM_001127897:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_001308334:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_001330538:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_015272:exon17:c.C2579G:p.S860C	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1412123	RPGRIP1L-related_disorder|Joubert_syndrome_7|COACH_syndrome_3|Meckel_syndrome,_type_5|Joubert_syndrome|Meckel-Gruber_syndrome	MedGen:CN239416|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0595960311968	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs768030202	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.45756	T	0.077	0.52727	T	0.061	0.25085	B	0.022	0.31370	B	0.003377	0.35041	N	0.283482	0.999492	0.47278	D	1.5	0.37844	L	-2.43	0.88689	D	-1.55	0.37566	N	0.482	0.51672	0.031	0.82872	D	0.607	0.86076	D	10	0.35198504	0.52037	T	0.059596	0.67717	D	0.453	0.75279	0.57	0.69299	0.834258850195	0.83268	0.4948998973865138	0.49410	0.0930234555543	0.10505	0.543964087963	0.45005	T	0.093	0.39161	T	0.0520254	0.58603	T	-0.0993997	0.63443	T	0.245709016919136	0.22680	T	0.693131	0.31676	T	0.17191124	0.37851	0.12059234	0.29102	0.17191124	0.37851	0.12059234	0.29102	-6.433	0.49767	T	0.2574757489283589	0.34795	0.076	0.06990	B	.;.;.;.;.;.	.;.;.;.;.;.	3.967866	0.58246	24.0	0.91586530426582957	0.20868	0.91818	0.54329	D	AEFGBI	0.463885	0.51262	N	0.00921796809693978	0.42273	2.543993	0.188464336509215	0.49214	3.12735	0.998921805120258	0.37985	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.44	5.44	0.79348	2.898000	0.48370	6.695000	0.56353	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.850	0.92193	327	0.86637	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3033.33	206	chr16	53645729	.	G	C	3033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.749;DP=823;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.857;SOR=0.925	GT:AD:DP:GQ:PL	0/1:92,114:206:99:3047,0,2358	18	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.02632	2261.33	334	chr16	55810997	.	T	C	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.428;DP=1019;ExcessHet=0;FS=0.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=-1.543;SOR=0.646	GT:AD:DP:GQ:PL	0/1:223,111:334:99:2275,0,5497	18	0	1	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E,CES5A:NM_001190158:exon12:c.C1419A:p.D473E	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.050505	0.031250	0.067251	0.000000	0.060345	0.012195	0.003788	0.05263	3040.83	115	chr16	55849715	.	G	T	3040.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=894;ExcessHet=0.119;FS=5.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.543;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,56:115:99:1|0:55849706_T_C:1430,0,2289:55849706	17	0	2	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P,CES5A:NM_145024:exon10:c.G1262C:p.R421P,CES5A:NM_001190158:exon11:c.G1349C:p.R450P	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033300	0.050505	0.031250	0.067251	0.000000	0.051724	0.009202	0.003817	0.05263	2525.83	96	chr16	55852892	.	C	G	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.113;DP=812;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.08;SOR=0.677	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1307,0,1004	17	0	2	0
chr16	56502427	56502427	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon9:c.A970G:p.M324V,BBS2:NM_031885:exon9:c.A970G:p.M324V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.100430586475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.436	0.14326	T	.	.	.	.	.	.	0.000705	0.42254	N	0.312538	0.908935	0.36360	D	.	.	.	-2.74	0.90735	D	-1.32	0.34397	N	0.202	0.22357	-0.4722	0.69648	T	0.548	0.83432	D	10	0.10126558	0.18490	T	0.100431	0.77270	D	0.230	0.53062	0.252	0.19067	0.786444523351	0.78446	0.3039860424506459	0.30311	0.25415537248	0.27982	0.378468573093	0.22039	T	0.378393	0.74138	T	-0.0494375	0.44532	T	-0.30879	0.43790	T	0.0572994585002107	0.06737	T	0.658834	0.26791	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.07036	B	.;.	.;.	0.756861	0.11265	7.893	0.66960749619553817	0.08212	0.84181	0.43264	D	AEFBI	0.198141	0.32502	N	-0.410621216128572	0.25095	1.359824	-0.322472761131982	0.27373	1.518519	0.0580663385786912	0.15114	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.92	0.808	0.17861	0.456000	0.21572	0.912000	0.22635	0.665000	0.62972	0.949000	0.33028	0.991000	0.31484	0.630000	0.32157	0.1156:0.1932:0.2401:0.4511	1.498	0.02322	431	0.80762	Ciliary BBSome complex subunit 2, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	212	chr16	56502427	.	T	C	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.461;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.099;SOR=0.684	GT:AD:DP:GQ:PL	0/1:112,100:212:99:2402,0,2876	18	0	1	0
chr16	58040657	58040657	A	G	exonic	MMP15	.	nonsynonymous SNV	MMP15:NM_002428:exon5:c.A869G:p.K290R	.	378	1142	1	1	0	3	0.00131176	.	.	.	3989617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00763201221195	.	.	2.475e-05	9.625e-05	0	0	0	1.502e-05	0	6.056e-05	3.23e-05	5	154602	rs199719401	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	5.974e-05	2.236e-05	0	2.519e-05	0	0.0002	1.529e-05	4.967e-05	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.231	0.18246	T	0.386	0.15698	T	0.001	0.07471	B	0.01	0.14941	B	0.000001	0.62929	D	0.057817	0.837464	0.35013	D	0.59	0.15444	N	2.06	0.20523	T	-0.79	0.21860	N	0.275	0.31140	-1.0494	0.14565	T	0.041	0.17742	T	10	0.20558804	0.36790	T	0.007632	0.20246	T	0.065	0.18881	.	.	0.174091166621	0.17034	0.35394603346421966	0.35308	0.324208047398	0.34584	0.353312849998	0.18409	T	0.051439	0.28879	T	-0.38905	0.02729	T	-0.593966	0.13324	T	0.183577999472618	0.19458	T	0.818618	0.47570	T	0.29512215	0.52465	0.17471944	0.39887	0.29512215	0.52464	0.17471944	0.39887	-2.846	0.08615	T	.	.	0.064	0.01622	B	.	.	2.391529	0.30716	18.52	0.56200135159367492	0.05501	0.94630	0.61795	D	AEFDBI	0.774295	0.70805	D	-0.251022805647126	0.31064	1.738087	-0.0771960679269386	0.36335	2.113247	0.995009843913216	0.33904	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.17	5.17	0.70848	4.279000	0.58747	5.317000	0.48280	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	1.0:0.0:0.0:0.0	14.196	0.65211	611	0.66908	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2894.33	322	chr16	58040657	.	A	G	2894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.088;DP=952;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-1.341;SOR=0.598	GT:AD:DP:GQ:PL	0/1:189,133:322:99:2908,0,4744	18	0	1	0
chr16	67193474	67193474	T	C	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon4:c.T410C:p.L137S	.	429	1083	9	1	0	11	0.00505282	0.4131	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00950207212434	.	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0005	0.0001358	21	154602	rs202020885	0.0001	0.0001	8.712e-05	0.0001	0.0014	9.333e-05	8.817e-05	0.0007	0.0005	8.961e-05	0.0003	0.0007	0	0	0.0014	4.586e-05	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.098	0.30800	T	0.206	0.27056	T	0.917	0.50750	P	0.421	0.45113	B	0.336219	0.14035	N	0.703399	0.999231	0.46406	D	2.27	0.64531	M	2.08	0.20255	T	-2.53	0.54864	D	0.687	0.69300	-1.1134	0.02793	T	0.053	0.22655	T	10	0.19820952	0.35782	T	0.009502	0.24878	T	0.189	0.46613	.	.	0.591791014774	0.58856	0.5366381676944586	0.53588	0.285334489928	0.30943	0.730908751488	0.71639	T	0.235799	0.60314	T	-0.32195	0.06739	T	-0.336072	0.40790	T	0.165641661766972	0.18279	T	0.672333	0.28093	T	0.37023276	0.58602	0.26471442	0.52295	0.37023276	0.58603	0.26471442	0.52294	-11.386	0.81732	D	.	.	0.576	0.67894	P	.	.	5.492211	0.91494	32	0.94090689682085182	0.24246	0.90731	0.52154	D	AEFBCI	0.662610	0.63242	D	0.371654984131442	0.59891	4.172489	0.393942220486383	0.61191	4.315774	0.99999754418992	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.81	3.72	0.41857	5.673000	0.67781	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.813	0.34137	39	0.97975	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4728.83	264	chr16	67193474	.	T	C	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1095;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.29;SOR=0.792	GT:AD:DP:GQ:PL	0/1:137,127:264:99:2750,0,3404	17	0	2	0
chr16	68274799	68274801	GAA	-	exonic	SLC7A6	.	nonframeshift deletion	SLC7A6:NM_003983:exon3:c.73_75del:p.E26del,SLC7A6:NM_001076785:exon4:c.73_75del:p.E26del	.	429	1071	19	3	0	25	0.0115367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0004	0	0	0.0008	0.0033	0.0038	0.0001537	4	26028	rs563160341	0.0007	0.0007	0.0006	0.0009	0.0071	0.0007	0.0007	0.0054	0.0048	2.987e-05	0.0006	3.826e-05	5.038e-05	3.744e-05	0.0071	0.0005	0.0017	0.0041	0.0006	0.0006	0.0005	0.0007	0.0037	0.0005	0.0004	0.0024	0.0020	0.0001	0	0.0007	0.0003	0	0	0.0034	0.0007	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.004076	0.002924	0.000000	0.000000	0.024390	0.007576	0.02632	4790.29	300	chr16	68274798	.	GGAA	G	4790.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.167;DP=927;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.646;SOR=0.701	GT:AD:DP:GQ:PL	0/1:173,127:300:99:4804,0,6852	18	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	125.37	209	chr16	68828281	.	G	C	125.37	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.919;DP=2448;ExcessHet=0.3672;FS=188.579;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=-0.861;SOR=8.813	GT:AD:DP:GQ:PL	0/1:158,38:209:51:51,0,3163	9	0	3	7
chr16	70943930	70943930	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon42:c.C6551T:p.P2184L	Ciliary dyskinesia, primary, 5, Autosomal recessive	0	1496	25	1	0	27	0.00894336	.	.	.	2817697	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00421247922249	8.2e-05	0.000199681	0.0005	0	0.0007	0	0	0.0002	0.0017	0.0018	0.0002975	46	154602	rs201833742	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0003	0	0	0	0.0047	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0014	7.57e-05	6.276e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0014	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.098996	0.19955	N	0.246545	1	0.08975	N	0.335	0.10427	N	5.51	0.00912	T	-2.48	0.54059	N	0.178	0.19190	-0.9282	0.44400	T	0.003	0.01092	T	10	0.008992434	0.00203	T	0.004212	0.10153	T	0.048	0.13305	.	.	0.0482279557977	0.04254	0.13281182242206993	0.13205	.	.	0.292147189379	0.09236	T	0.288791	0.66158	T	-0.718616	0.00028	T	-0.85057	0.00952	T	0.0098813491200153	0.00131	T	.	.	.	0.0272746	0.01897	0.040950816	0.04543	0.0272746	0.01897	0.040950816	0.04543	-4.602	0.32197	T	.	.	0.068	0.02829	B	.	.	0.275899	0.06533	3.015	0.45450718449104699	0.03568	0.05380	0.11244	N	AEFBI	0.042569	0.06621	N	-1.46768840436088	0.02082	0.09154312	-1.47896888674186	0.02517	0.1159069	0.999599919016024	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.95	0.298	0.15015	0.502000	0.22302	2.248000	0.31665	-0.925000	0.02178	0.002000	0.15269	0.979000	0.30280	0.001000	0.02609	0.2182:0.0:0.7818:0.0	12.359	0.54518	564	0.70960	Hydin adenylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1381.33	136	chr16	70943930	.	G	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.133;SOR=0.72	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1395,0,1695	18	0	1	0
chr16	71947503	71947503	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon22:c.T3707C:p.L1236S	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0010	0	0	0	0.0015	0	0	0.0001552	24	154602	rs200917227	0.0019	0.0018	0.0020	0.0018	0.0024	0.0018	0.0018	0.0023	0.0022	0.0002	0.0002	3.985e-05	0	0.0003	0.0018	0.0024	0.0012	0.0001	0.0014	0.0013	0.0016	0.0011	0.0026	0.0012	0.0012	0.0023	0.0022	0.0003	0	0.0009	0	0	9.764e-05	0	0.0026	0.0010	0.0002	.	.	.	0.002	0.79402	D	0.998	0.73220	D	0.863	0.61398	P	.	.	.	.	.	.	.	2.19	0.61577	M	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.029564202	0.01083	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.2815174154147947	0.28064	.	.	0.324349761009	0.14080	T	0.028023	0.20393	T	-0.393358	0.02558	T	-0.338964	0.40462	T	.	.	.	0.424758	0.11367	T	0.17527133	0.38377	0.40094346	0.64617	0.17527133	0.38377	0.40094346	0.64617	-3.311	0.13879	T	.	.	0.271	0.50509	B	.	.	3.413851	0.47373	22.4	0.82212547084786658	0.14076	0.87115	0.46558	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999744701595766	0.42466	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.917243	0.58151	4.99	4.99	0.65942	3.574000	0.53608	6.147000	0.54138	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	11.359	0.48873	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1327.33	116	chr16	71947503	.	A	G	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.376;DP=815;ExcessHet=0;FS=2.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.51;SOR=0.57	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1341,0,1413	18	0	1	0
chr16	72797656	72797656	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.A2284G:p.S762G,ZFHX3:NM_006885:exon9:c.A5026G:p.S1676G	.	414	1105	3	0	0	3	0.00135563	.	.	.	3206539	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.00579073	0.0022	0.0157	0.0025	0	0.0005	0.0009	0	0.0002	0.0021216	328	154602	rs147120168	0.0011	0.0011	0.0011	0.0010	0.0132	0.0010	0.0010	0.0122	0.0118	0.0132	0.0031	3.826e-05	0	0.0009	0.0033	0.0007	0.0019	0.0002	0.0052	0.0052	0.0052	0.0052	0.0148	0.0049	0.0048	0.0138	0.0134	0.0148	0.0088	0.0050	0	0	0.0006	0	0.0012	0.0043	0.0004	0.42	0.09836	T	0.216	0.29540	T	0.0	0.02946	B	0.0	0.01387	B	0.000718	0.42254	D	0.103387	0.999058	0.21670	N	1.04	0.26193	L	-0.79	0.73739	T	-0.34	0.12661	N	0.116	0.10483	-1.0404	0.17192	T	0.068	0.27947	T	10	0.0032629967	0.00056	T	.	.	.	0.087	0.25287	.	.	0.193917141947	0.19028	0.2186293287284463	0.21778	0.0854028739893	0.09651	0.321195274591	0.13603	T	0.067483	0.33214	T	-0.514472	0.00473	T	-0.499456	0.22405	T	0.00458365235235999	0.00049	T	0.59804	0.22456	T	0.040137988	0.05673	0.0412651	0.04651	0.054494403	0.10463	0.046428867	0.06470	-3.954	0.23878	T	.	.	0.065	0.01834	B	.;.;.	.;.;.	1.268138	0.16667	12.69	0.57159750480157467	0.05708	0.85857	0.45039	D	AEFDBCIJ	0.127725	0.24521	N	-0.85766530238967	0.11862	0.5748349	-0.707940825873626	0.16763	0.8882998	0.98762417235289	0.31307	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	3.49	0.39065	1.017000	0.29591	0.670000	0.20585	0.651000	0.53179	0.497000	0.26932	0.476000	0.25077	0.389000	0.26536	0.0:0.2007:0.0:0.7993	9.419	0.37700	175	0.93230	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2730.33	209	chr16	72797656	.	T	C	2730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.334;DP=1215;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.13;SOR=0.758	GT:AD:DP:GQ:PL	0/1:95,114:209:99:2744,0,2381	18	0	1	0
chr16	75264387	75264387	C	G	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170714:exon2:c.G114C:p.E38D	.	421	1082	17	1	1	20	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00378571097736	.	0.00139776	0.0013	0	0.0070	0	0	0.0018	0	0.0010	0.000304	47	154602	rs146094747	0.0007	0.0007	0.0007	0.0008	0.0049	0.0007	0.0007	0.0035	0.0030	3.175e-05	0.0006	0.0072	0	0.0004	0.0049	0.0005	0.0014	0.0012	0.0006	0.0006	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0001	0	0.0005	0.0066	0	9.407e-05	0.0068	0.0008	0.0009	0.0004	0.162	0.23541	T	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.61	0.28391	T	-0.41	0.14000	N	0.09	0.10626	-0.9947	0.31379	T	0.023	0.09696	T	9	0.003889501	0.00074	T	0.003786	0.08806	T	0.007	0.00512	0.264	0.20946	0.305926609036	0.30200	0.4130543705503894	0.41221	0.0846322100685	0.09560	0.369872838259	0.20813	T	.	.	.	-0.544808	0.00313	T	-0.595888	0.13159	T	0.0218429660041087	0.00891	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-4.416	0.29773	T	.	.	0.081	0.36554	B	.;.	.;.	0.369741	0.07422	4.051	0.656206604311796	0.07824	0.05326	0.11178	N	AEFDGBCI	0.062952	0.12134	N	-1.20521823652541	0.04922	0.2232432	-1.23643532663601	0.05335	0.2539451	0.999999746556681	0.74766	0.03303	0.00220	3	0.541556	0.11502	0	0.633826	0.45126	0	0.249971	0.05119	0	.	.	3.98	-1.06	0.09491	-0.343000	0.07838	-0.324000	0.09941	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.4653:0.0:0.5347	6.961	0.23775	738	0.53389	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001295	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012821	0.02632	816.33	100	chr16	75264387	.	C	G	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=731;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.06;SOR=0.652	GT:AD:DP:GQ:PL	0/1:59,41:100:99:830,0,1413	18	0	1	0
chr16	75395175	75395175	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon5:c.G565A:p.A189T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0155176344296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	2.395	0.69210	M	0.19	0.60236	T	-3.06	0.63090	D	0.761	0.75927	-0.3192	0.74444	T	0.376	0.73416	T	10	0.82347727	0.81538	D	0.015518	0.36297	T	0.274	0.59007	0.491	0.57732	0.812215987614	0.81045	0.7162876194020986	0.71571	0.099797184995	0.11272	0.669038176537	0.62701	T	0.273451	0.64589	T	0.125186	0.66890	D	-0.0579555	0.66474	T	0.958673179149628	0.65332	D	0.823718	0.48487	T	0.59784377	0.72575	0.6032163	0.76941	0.59784377	0.72576	0.6032163	0.76942	-12.196	0.85792	D	.	.	0.689	0.72511	P	.	.	5.083600	0.84853	28.4	0.99914750852495282	0.98309	0.89214	0.49545	D	AEFDBI	0.496655	0.53151	N	0.685512045899161	0.78685	6.921272	0.699554332899595	0.82342	7.744042	0.999991320616556	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	4.382000	0.59360	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.757	0.77806	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1050.33	90	chr16	75395175	.	C	T	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.594;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.186;SOR=0.693	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1064,0,1202	18	0	1	0
chr16	78022661	78022661	T	G	exonic	CLEC3A	.	nonsynonymous SNV	CLEC3A:NM_005752:exon1:c.T35G:p.V12G	.	434	1082	4	2	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0158925621706	.	.	0.0001	0	8.673e-05	0	0	3.002e-05	0.0011	0.0007	9.7e-05	15	154602	rs760496672	9.166e-05	9.166e-05	6.806e-05	0.0001	0.0009	7.89e-05	7.365e-05	0.0007	0.0007	0	0	3.826e-05	0	1.872e-05	0.0002	4.406e-05	6.623e-05	0.0009	4.598e-05	4.593e-05	1.285e-05	8.06e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.010079	0.30079	N	0.289408	0.999197	0.46300	D	.	.	.	3.04	0.08810	T	.	.	.	0.44	0.47857	-0.9799	0.35025	T	0.130	0.43968	T	9	0.06961158	0.10013	T	0.015893	0.36869	T	0.099	0.28413	.	.	0.18995819373	0.18626	.	.	0.00224187038655	0.00188	0.383359611034	0.22732	T	.	.	.	-0.369609	0.03614	T	-0.397609	0.33663	T	0.335046827793121	0.26427	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.069941	0.60461	24.2	0.99240312211607939	0.56533	0.95699	0.65780	D	AEFDBI	0.557926	0.56735	D	-0.0565258205195075	0.39311	2.316164	0.111590079757284	0.45140	2.782553	0.920310567306153	0.26628	0.553676	0.25195	0	0.573888	0.26702	0	0.596394	0.31383	0	0.620846	0.47308	0	.	.	5.71	4.6	0.56512	5.256000	0.65286	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1314:0.0:0.0:0.8686	11.830	0.51565	853	0.34956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	137	chr16	78022661	.	T	G	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.431;DP=785;ExcessHet=0;FS=4.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.411;SOR=0.991	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1629,0,1676	18	0	1	0
chr16	84101767	84101767	A	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon2:c.T17C:p.I6T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1660957	MBTPS1-related_disorder|Spondyloepiphyseal_dysplasia,_kondo-fu_type|not_provided	.|MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00319489	0.0101	0.0008	0.0030	0	0.0361	0.0129	0.0177	0.0038	0.0092431	1429	154602	rs34701895	0.0093	0.0093	0.0093	0.0094	0.0177	0.0092	0.0091	0.0149	0.0139	0.0016	0.0049	0.0037	5.038e-05	0.0325	0.0177	0.0095	0.0089	0.0040	0.0095	0.0095	0.0090	0.0101	0.0127	0.0091	0.0089	0.0120	0.0117	0.0015	0.0241	0.0065	0.0026	0	0.0335	0.0102	0.0127	0.0071	0.0037	0.391	0.10802	T	0.312	0.19599	T	0.02	0.18235	B	0.018	0.18489	B	0.005113	0.33089	N	0.355612	0.830314	0.28768	N	1.1	0.28011	L	1.41	0.33412	T	-0.15	0.82341	N	0.138	0.13626	-1.0449	0.15854	T	0.024	0.10103	T	10	0.0053536	0.00117	T	.	.	.	0.014	0.01968	.	.	.	.	0.4517386798585098	0.45091	0.049455207647	0.05415	0.604184746742	0.53495	T	0.213298	0.57457	T	-0.530541	0.00381	T	-0.520582	0.20234	T	0.00792578813983689	0.00093	T	0.69753	0.30746	T	0.023626905	0.01118	0.0472831	0.06776	0.023548719	0.01103	0.0472831	0.06776	-3.553	0.17182	T	.	.	0.117	0.23709	B	.;.	.;.	1.985030	0.25217	16.68	0.85071971645797162	0.15668	0.89986	0.50819	D	AEFBI	0.280595	0.39438	N	-0.468875365613916	0.23106	1.23843	-0.253978555040062	0.29633	1.661854	0.998649430173461	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	2.62	0.30337	3.754000	0.54903	3.086000	0.36259	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.811:0.0:0.189:0.0	10.258	0.42586	702	0.57624	.;.	.	.	.	.	rs34701895	Likely benign	0	0	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	0.010574	0.005051	0.013587	0.011696	0.000000	0.017241	0.015244	0.003788	0.02632	676.33	70	chr16	84101767	.	A	G	676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.111;DP=715;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.006;SOR=0.542	GT:AD:DP:GQ:PL	0/1:41,29:70:99:690,0,1057	18	0	1	0
chr16	84319560	84319560	G	A	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon4:c.G551A:p.R184H,WFDC1:NM_001282467:exon4:c.G548A:p.R183H,WFDC1:NM_021197:exon4:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	0.0062	0.00439297	0.0021	0.0217	0.0009	0	0	0.0002	0	0.0001	0.001837	284	154602	rs145072849	0.0007	0.0007	0.0008	0.0006	0.0229	0.0007	0.0006	0.0216	0.0211	0.0229	0.0012	0	0.0001	0	0.0009	4.677e-05	0.0018	0.0003	0.0065	0.0065	0.0067	0.0063	0.0227	0.0062	0.0060	0.0215	0.0210	0.0227	0	0.0017	0	0	0	0	0.0001	0.0066	0.0004	0.004	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	1.29	0.35775	T	-3.13	0.63901	D	0.562	0.58629	-0.9369	0.43103	T	0.082	0.32295	T	10	0.0051507056	0.00112	T	.	.	.	0.355	0.67600	.	.	0.412064437402	0.40821	0.38662520777392523	0.38577	0.140223591948	0.15806	0.426136434078	0.28680	T	0.238592	0.60652	T	-0.36347	0.03937	T	-0.27729	0.47081	T	0.0267764411113482	0.01512	T	0.859714	0.55187	D	0.2812426	0.51168	0.2330276	0.48480	0.2812426	0.51168	0.2330276	0.48479	-7.837	0.59954	D	.	.	0.119	0.24464	B	.;.	.;.	4.574476	0.72201	25.8	0.99955048810632052	0.99969	0.96772	0.70857	D	AEFDBI	0.912007	0.87206	D	0.542543157762379	0.69628	5.38423	0.50585058013213	0.68384	5.212523	0.999565571293432	0.40425	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	8.918000	0.92345	5.373000	0.48434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0:1.0:0.0	15.469	0.75159	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1576.33	102	chr16	84319560	.	G	A	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.259;DP=737;ExcessHet=0;FS=4.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.813;SOR=0.382	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1590,0,1171	18	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	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/1:93,34:135:89:89,0,1341	14	0	5	0
chr16	88533967	88533967	G	A	exonic	ZFPM1	.	nonsynonymous SNV	ZFPM1:NM_153813:exon10:c.G2009A:p.G670D	.	425	1091	5	1	0	7	0.00319781	.	.	.	4099174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.298522573757	.	.	0.0011	0	0	0	0	0.0003	0	0.0018	0.0001294	20	154602	rs773013769	0.0001	0.0001	5.56e-05	0.0002	0.0018	9.349e-05	8.783e-05	0.0012	0.0011	0	8.175e-05	0	0	9.184e-05	0.0018	1.159e-05	9.135e-05	0.0014	6.14e-05	5.948e-05	5.317e-05	7.007e-05	0.0012	3.183e-05	2.387e-05	0.0005	0.0004	0	0	6.752e-05	0	0	0.0001	0.0035	0	0	0.0012	0.375	0.11370	T	0.216	0.26226	T	0.969	0.56768	D	0.54	0.48825	P	0.649161	0.10529	U	0.842078	0.536453	0.31448	N	0.805	0.20218	L	3.23	0.06931	T	-0.73	0.20576	N	0.359	0.40063	-1.0160	0.25013	T	0.018	0.07706	T	10	0.03855738	0.02282	T	0.298523	0.90803	D	0.047	0.12962	.	.	0.393471546983	0.38961	0.3982640867423139	0.39741	1.94421044628	0.93273	0.92670071125	0.98790	D	0.174471	0.52370	T	-0.546316	0.00307	T	-0.5929	0.13415	T	0.0712734890636471	0.08828	T	0.577542	0.20782	T	0.08585912	0.19934	0.08019746	0.18121	0.08585912	0.19934	0.08019746	0.18121	-11.48	0.82225	D	.	.	0.632	0.70190	P	.	.	3.747550	0.53700	23.4	0.99585838352441181	0.73277	0.09924	0.15567	N	AEFDGBHCI	0.205000	0.33139	N	-0.254382259173252	0.30929	1.729282	-0.299238175279413	0.28123	1.565619	0.999999999078405	0.74766	0.65757	0.49021	0	0.633563	0.54681	0	0.519653	0.09787	0	0.604282	0.37693	0	.	.	3.01	3.01	0.33872	1.436000	0.34590	5.825000	0.50115	0.407000	0.20612	0.348000	0.25742	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.7508:0.2491	7.771	0.28171	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003304	0.000000	0.002874	0.003086	0.000000	0.000000	0.007194	0.004167	0.02632	693.33	46	chr16	88533967	.	G	A	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.096;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-1.166;SOR=0.623	GT:AD:DP:GQ:PL	0/1:16,30:46:99:707,0,320	18	0	1	0
chr16	88681634	88681634	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G157A:p.G53S	.	414	1096	10	2	0	14	0.00634633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0042864543378	0.0002	0.000998403	0.0006	0.0001	0.0002	0	0	0.0007	0	0.0025	0.0005239	81	154602	rs45506693	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0034	0.0033	0.0001	0.0003	0.0068	0	0	0.0035	0.0002	0.0011	0.0038	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	7.229e-05	0	0.0001	0.0066	0.0002	0	0.0170	0.0002	0.0005	0.0023	0.439	0.09291	T	0.501	0.11153	T	0.003	0.11197	B	0.001	0.04355	B	0.279685	0.03825	N	1.426480	1	0.08975	N	0.42	0.12520	N	3.55	0.04746	T	0.69	0.02195	N	0.085	0.06190	-0.9248	0.44886	T	0.008	0.02884	T	10	0.0032294095	0.00055	T	0.004286	0.10373	T	0.007	0.00512	.	.	0.0551355673512	0.04727	.	.	0.082201812116	0.09269	0.301113814116	0.10568	T	0.00812	0.07471	T	-0.745142	0.00019	T	-0.844595	0.01032	T	0.00284892537892234	0.00030	T	0.307569	0.05925	T	0.04210917	0.06324	0.037326425	0.03361	0.04210917	0.06324	0.037326425	0.03361	-3.416	0.15273	T	.	.	0.131	0.28203	B	.	.	-0.738204	0.01235	0.063	0.70291109780015038	0.09248	0.01800	0.05617	N	AEFDGBCI	0.045810	0.07534	N	-1.37615950517131	0.02862	0.1270242	-1.42634773366858	0.02991	0.1386766	0.999999948961246	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.45	-3.9	0.03904	-0.687000	0.05257	-2.245000	0.04004	-2.889000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2485:0.2825:0.0:0.469	4.378	0.10714	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	0.002523	0.000000	0.002717	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1571.33	68	chr16	88681634	.	C	T	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.58;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.11;ReadPosRankSum=-0.505;SOR=0.613	GT:AD:DP:GQ:PL	0/1:22,46:68:99:1585,0,446	18	0	1	0
chr17	3126813	3126813	C	T	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.G739A:p.V247M	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.000642364353472	.	0.000399361	0.0003	0	0	0.0001	0	0	0.0011	0.0023	0.0002781	43	154602	rs531504131	0.0001	0.0001	7.079e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	5.975e-05	0	0	0.0002	0	0	1.529e-05	0.0002	0.0020	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0021	4.496e-05	3.511e-05	0.0011	0.0009	4.815e-05	0	0	0	0	0	0	0	0	0.0021	0.019	0.50132	D	0.013	0.63109	D	0.829	0.46068	P	0.609	0.51053	P	.	.	.	.	0.821554	0.28876	N	3.005	0.85968	M	8.34	0.00254	T	-2.71	0.57762	D	0.161	0.16864	-1.1372	0.01466	T	0.002	0.00646	T	9	0.020099193	0.00458	T	6.42E-4	0.00334	T	0.135	0.36572	0.542	0.65446	0.423716096872	0.41987	0.222136398075217	0.22128	0.0565549676772	0.06250	0.266233325005	0.05656	T	0.014374	0.12250	T	-0.474665	0.00795	T	-0.461863	0.26397	T	0.210668627212047	0.20988	T	0.817618	0.47476	T	0.14599596	0.33442	0.19686596	0.43439	0.14599596	0.33442	0.19686596	0.43438	-7.299	0.56188	T	.	.	0.099	0.16494	B	.	.	3.319626	0.45653	22.2	0.9985203745786092	0.93102	0.81541	0.40924	D	AEFBI	0.148472	0.27237	N	0.240565893235539	0.53173	3.487519	0.178134355263588	0.48650	3.078174	2.80195645797994E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	3.67	0.41236	1.283000	0.32843	1.374000	0.25980	-0.467000	0.05102	0.001000	0.13787	0.003000	0.18671	0.960000	0.51673	0.0:0.9123:0.0:0.0877	11.612	0.50324	721	0.55360	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2371.33	193	chr17	3126813	.	C	T	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=829;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.556;SOR=0.807	GT:AD:DP:GQ:PL	0/1:101,92:193:99:2385,0,2643	18	0	1	0
chr17	3440331	3440331	T	C	exonic	SPATA22	.	stoploss	SPATA22:NM_001170699:exon8:c.A810G:p.X270W	.	453	1068	0	1	0	2	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000057	0.53742	D	0.072064	0.995928	0.42925	D	.	.	.	-1.3	0.79571	T	-4.45	0.77717	D	0.433	0.53620	-0.4800	0.69366	T	0.337	0.70395	T	9	0.5070008	0.61876	D	.	.	.	0.505	0.78662	0.271	0.22052	0.69178495124	0.68913	0.5965343594333087	0.59583	0.182182223712	0.20484	0.448675990105	0.31763	T	0.183606	0.53600	T	0.248496	0.78461	D	0.119171	0.78180	D	0.99804013967514	0.93084	D	0.879412	0.59551	D	0.30426583	0.53284	0.4330833	0.66873	0.30426583	0.53284	0.4330833	0.66873	-9.146	0.69821	D	0.8416894941573636	0.91005	0.374	0.58185	A	.;.;.;.;.;.	.;.;.;.;.;.	4.628874	0.73573	26.0	0.99919080921250514	0.98586	0.94698	0.62023	D	AEFDI	0.780994	0.71271	D	0.299516499465687	0.56125	3.776748	0.390314620867087	0.60965	4.290437	0.688022354931017	0.22556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	3.212000	0.50847	4.871000	0.45567	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.479	0.75235	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	549.33	43	chr17	3440331	.	T	C	549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.623;DP=632;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,20:43:99:563,0,702	18	0	1	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P,TAX1BP3:NM_014604:exon4:c.T368C:p.L123P	.	419	1061	39	3	0	45	0.020766	.	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	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	0.012133	0.015152	0.010870	0.002924	0.000000	0.026316	0.012422	0.011364	0.05263	595.83	42	chr17	3663755	.	A	G	595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.667;DP=654;ExcessHet=0.119;FS=3.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.402;SOR=1.143	GT:AD:DP:GQ:PL	0/1:26,16:42:99:287,0,660	17	0	2	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.02632	1131.33	98	chr17	4554215	.	C	G	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=731;ExcessHet=0;FS=3.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.279;SOR=1.136	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1145,0,1485	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,201:202:99:.:.:6945,607,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,201:202:99:.:.:6945,607,0:.	1	11	5	2
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,25:145:51:0|1:6800775_C_G:51,0,3453:6800775	6	0	9	4
chr17	7846859	7846859	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.752_753insACCACCACCACC:p.P264_L265insPPPP,KDM6B:NM_001348716:exon9:c.752_753insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	3206840	KDM6B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779500270	0.0019	0.0021	0.0019	0.0018	0.0091	0.0018	0.0018	0.0083	0.0079	0.0031	0.0017	0.0041	0.0091	0.0010	0.0014	0.0016	0.0021	0.0012	0.0023	0.0024	0.0025	0.0021	0.0079	0.0021	0.0020	0.0058	0.0051	0.0031	0	0.0021	0.0048	0.0079	0.0012	0	0.0017	0.0007	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	48123.2	86	chr17	7846859	.	T	TACCACCACCACC	48123.2	.	AC=1;AF=0.026;AN=38;DP=1834;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=59.91;QD=33.3;SOR=1.49	GT:AD:DP:GQ:PL	0/1:0,37:86:99:3954,1923,1776	18	0	1	0
chr17	7849191	7849191	T	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.T2903G:p.V968G,KDM6B:NM_001348716:exon11:c.T2903G:p.V968G	.	0	1512	10	0	0	10	0.00329598	.	.	.	3275748	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00529791172589	.	0.000399361	0.0010	0	0	0	0	8.479e-05	0	0.0051	0.0004916	76	154602	rs542259827	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	9.07e-05	0	0	0	0.0012	1.263e-05	0.0004	0.0038	0.0001	0.0001	5.141e-05	0.0002	0.0033	7.575e-05	6.28e-05	0.0021	0.0017	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0033	0.105	0.29823	T	0.415	0.14412	T	0.0	0.02946	B	0.0	0.01387	B	0.434170	0.04722	N	1.405150	0.935682	0.26937	N	-0.695	0.01866	N	1.53	0.30401	T	0.65	0.02332	N	0.143	0.14338	-1.0121	0.26259	T	0.034	0.14464	T	10	0.0031026602	0.00052	T	0.005298	0.13556	T	0.023	0.04649	0.196	0.10839	0.0675242888579	0.06100	0.1708826734579533	0.17008	0.16178190297	0.18257	0.423045635223	0.28256	T	0.044645	0.26878	T	-0.577961	0.00198	T	-0.603259	0.12539	T	0.00895410566764721	0.00112	T	0.189081	0.01998	T	0.03826637	0.05067	0.04962776	0.07621	0.03826637	0.05066	0.04962776	0.07621	-1.653	0.02162	T	.	.	0.063	0.02797	B	.;.	.;.	1.119669	0.15051	11.55	0.47353440741326613	0.03865	0.00766	0.03164	N	AEFBCI	0.011068	0.00091	N	-1.26717863667571	0.04078	0.1833501	-1.21589550155425	0.05654	0.2699959	0.0800907385675399	0.15836	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	4.2	0.723	0.17384	1.389000	0.34060	-0.126000	0.11669	-0.153000	0.12021	0.211000	0.24435	0.000000	0.08366	0.259000	0.23493	0.0:0.278:0.3803:0.3417	6.239	0.19993	298	0.88068	.;.	.	.	.	.	.	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	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1632.33	132	chr17	7849191	.	T	G	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=805;ExcessHet=0;FS=3.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.675;SOR=1.03	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1646,0,1946	18	0	1	0
chr17	16417718	16417718	G	C	exonic	TRPV2	.	nonsynonymous SNV	TRPV2:NM_016113:exon2:c.G50C:p.G17A	.	429	1070	23	0	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0025	0.0479233	0.0200	0.0020	0.0162	0.2129	0	0.0013	0.0122	0.0170	0.0184797	2857	154602	rs3813768	0.0085	0.0085	0.0084	0.0087	0.2062	0.0084	0.0083	0.2024	0.2009	0.0010	0.0127	0.0044	0.2062	1.872e-05	0.0031	0.0013	0.0112	0.0166	0.0097	0.0098	0.0085	0.0110	0.2119	0.0093	0.0091	0.2015	0.1973	0.0015	0	0.0058	0.0037	0.2119	0	0	0.0014	0.0095	0.0220	0.124	0.27426	T	0.479	0.11933	T	0.004	0.12183	B	0.004	0.10090	B	0.098097	0.02521	N	1.778940	1	0.26325	P	1.935	0.51832	L	-2.28	0.87512	D	-0.2	0.10136	N	0.122	0.11340	-1.0386	0.17740	T	0.000	0.00114	T	9	0.0012409985	0.00014	T	.	.	.	0.198	0.48105	.	.	.	.	0.17354491738246897	0.17274	0.316423351387	0.33903	0.329348444939	0.14835	T	0.150184	0.48954	T	-0.44888	0.01147	T	-0.273742	0.47440	T	0.00295731834542122	0.00031	T	0.744825	0.36507	T	0.052044585	0.09648	0.056770544	0.10200	0.052044585	0.09648	0.056770544	0.10200	-3.811	0.20969	T	.	.	0.085	0.09965	B	.	.	1.157249	0.15458	11.86	0.8620776380375742	0.16383	0.36304	0.25502	N	AEFGBI	0.129353	0.24749	N	-0.698007810690757	0.16078	0.8160129	-0.690049993956234	0.17209	0.9140061	0.999995225458586	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.45	3.48	0.38946	2.327000	0.43517	2.838000	0.35062	0.672000	0.70159	0.526000	0.27158	0.985000	0.30750	0.012000	0.09680	0.164:0.0:0.836:0.0	9.568	0.38574	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.004076	0.000000	0.000000	0.000000	0.015244	0.003788	0.02632	2566.33	230	chr17	16417718	.	G	C	2566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.674;SOR=0.678	GT:AD:DP:GQ:PL	0/1:120,110:230:99:2580,0,2834	18	0	1	0
chr17	18772489	18772489	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon11:c.C1925T:p.T642M,FBXW10:NM_001267585:exon12:c.C2084T:p.T695M	.	430	1073	14	5	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0071	0.00119808	0.0074	0.0016	0.0040	0.0001	0.0065	0.0112	0.0132	0.0021	0.0069663	1077	154602	rs150329747	0.0087	0.0088	0.0089	0.0086	0.0101	0.0086	0.0086	0.0099	0.0099	0.0018	0.0036	0.0137	0.0002	0.0060	0.0049	0.0101	0.0081	0.0019	0.0065	0.0065	0.0071	0.0059	0.0109	0.0061	0.0060	0.0102	0.0100	0.0018	0.0044	0.0024	0.0153	0	0.0047	0.0034	0.0109	0.0052	0.0027	0.097	0.31088	T	0.105	0.38160	T	0.53	0.46172	P	0.035	0.31370	B	0.014875	0.01402	U	4.344430	1	0.08975	N	0	0.06538	N	0.35	0.59983	T	-1.29	0.35597	N	0.161	0.23884	-0.9906	0.32449	T	0.046	0.19559	T	10	0.005772084	0.00129	T	.	.	.	0.060	0.17295	.	.	0.0138822411134	0.00435	0.18173062683297633	0.18092	.	.	0.297576367855	0.10041	T	0.003381	0.02788	T	-0.602469	0.00141	T	-0.627793	0.10582	T	0.00719906712202938	0.00082	T	0.423358	0.11306	T	0.01666958	0.00214	0.027029827	0.00827	0.01666958	0.00213	0.027029827	0.00827	-5.048	0.37357	T	.	.	0.078	0.06803	B	.;.;.	.;.;.	0.066611	0.04760	1.382	0.84772125039404311	0.15488	0.02753	0.07439	N	AEFBI	0.054084	0.09803	N	-1.37356261184012	0.02887	0.1281773	-1.49044872290491	0.02422	0.1113722	8.42159322340843E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.61	-5.49	0.02381	-0.561000	0.06048	0.033000	0.13759	-2.022000	0.00435	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.2949:0.1678:0.4353	2.437	0.04212	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.004076	0.002924	0.050000	0.008621	0.015244	0.000000	0.02632	606.33	43	chr17	18772489	.	C	T	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=657;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=1.05;SOR=0.922	GT:AD:DP:GQ:PL	0/1:20,23:43:99:620,0,470	18	0	1	0
chr17	19680015	19680015	G	T	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon16:c.C1417A:p.Q473K,SLC47A2:NM_152908:exon16:c.C1525A:p.Q509K,SLC47A2:NM_001256663:exon17:c.C1459A:p.Q487K	.	.	.	.	.	.	.	.	.	.	.	3596759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00450774709564	7.7e-05	.	8.328e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs142971549	5.61e-05	5.609e-05	4.901e-05	6.326e-05	0.0003	4.61e-05	4.236e-05	6.096e-05	4.423e-05	0	0.0001	0	0	0	0.0003	6.025e-05	0.0001	0	6.572e-05	6.567e-05	8.994e-05	4.036e-05	0.0001	3.517e-05	2.617e-05	6.803e-05	5.087e-05	0	0	6.55e-05	0	0	0	0	0.0001	0	0	0.924	0.02286	T	0.923	0.02845	T	0.002	0.19075	B	0.004	0.19653	B	0.818871	0.06872	N	1.090970	1	0.08975	N	1.04	0.26193	L	1.54	0.30133	T	-0.52	0.16187	N	0.208	0.26717	-1.0120	0.26291	T	0.043	0.18659	T	10	0.052222133	0.05222	T	0.004508	0.11094	T	0.056	0.15993	.	.	0.0138822411134	0.00435	0.1268093865464099	0.12606	0.137146261983	0.15466	0.402756601572	0.25452	T	0.017065	0.13986	T	-0.336553	0.05630	T	-0.516661	0.20633	T	0.0337786920321909	0.02601	T	0.572243	0.20426	T	0.0976057	0.23010	0.0744724	0.16294	0.0976057	0.23010	0.0744724	0.16294	-5.378	0.42008	T	.	.	0.098	0.16407	B	.;.	.;.	0.210997	0.05945	2.385	0.75923407084379035	0.11264	0.08541	0.14456	N	AEFGBCI	0.040838	0.06128	N	-1.02701212127412	0.08046	0.3759021	-1.00357776444578	0.09706	0.4844615	0.0790502349993294	0.15806	0.554377	0.28877	0	0.588066	0.40923	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	4.04	3.07	0.34476	0.742000	0.25884	0.675000	0.20627	0.573000	0.29008	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.1187:0.0:0.8813:0.0	7.923	0.29019	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	.	.	.	.	.	.	.	.	0.02632	834.33	90	chr17	19680015	.	G	T	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=710;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.331;SOR=1.223	GT:AD:DP:GQ:PL	0/1:55,35:90:99:848,0,1283	18	0	1	0
chr17	21703364	21703364	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C578T:p.T193M	.	369	1150	3	0	0	3	0.00130265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356955579	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0030	0.0028	0.0035	0.0002	0	5.073e-05	0	0.0010	0.0001	0.0005	0.0001	0.0007	0.0008	0.0006	0.0008	0.0019	0.0006	0.0005	0.0016	0.0015	0.0019	0	0.0008	0	0	0	0	0.0001	0.0009	0	0.004	0.65419	D	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.02	0.96402	D	-5.83	0.88361	D	0.42	0.45992	1.094	0.99408	D	0.964	0.98844	D	10	0.22625974	0.39477	T	0.32832	0.91677	D	.	.	.	.	0.441221003447	0.43743	0.8037346935296216	0.80327	.	.	0.870696783066	0.92668	D	0.814793	0.95409	D	0.334658	0.85477	D	0.242936	0.85287	D	0.637156128883362	0.37917	D	0.936406	0.76145	D	0.58014977	0.71616	0.6659059	0.80410	0.58014977	0.71617	0.6659059	0.80411	-11.962	0.84666	D	0.795831022171912	0.87353	0.942	0.86088	P	.	.	5.516897	0.91739	32	0.999118487672363	0.98095	0.97012	0.72181	D	AEFDGBI	.	.	.	1.03482771780036	0.96719	15.052	0.938105075275716	0.97029	15.48564	1.0	0.98316	0.580535	0.33130	0	0.578056	0.33634	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.31	5.31	0.75063	4.915000	0.63054	3.295000	0.37336	0.111000	0.17629	1.000000	0.71638	0.998000	0.33993	0.386000	0.26469	0.0:1.0:0.0:0.0	18.978	0.92722	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	462.33	349	chr17	21703364	.	C	T	462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.197;DP=4341;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.83;MQRankSum=-7.136;QD=1.32;ReadPosRankSum=2.84;SOR=0.893	GT:AD:DP:GQ:PL	0/1:297,52:349:99:476,0,11666	18	0	1	0
chr17	28959404	28959404	C	T	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon9:c.G1840A:p.G614S,SEZ6:NM_001290202:exon9:c.G1465A:p.G489S,SEZ6:NM_178860:exon9:c.G1840A:p.G614S	.	417	1081	23	1	0	25	0.0114312	.	.	.	715334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0019	0.00359425	0.0052	0.0004	0.0006	0	0.0053	0.0032	0.0067	0.0221	0.0045666	706	154602	rs201206867	0.0030	0.0030	0.0024	0.0036	0.0209	0.0029	0.0029	0.0201	0.0197	0.0004	0.0010	0.0090	2.519e-05	0.0042	0.0071	0.0017	0.0031	0.0209	0.0023	0.0023	0.0020	0.0026	0.0184	0.0021	0.0020	0.0153	0.0142	0.0004	0	0.0016	0.0066	0.0004	0.0042	0	0.0020	0.0062	0.0184	0.989	0.02102	T	0.889	0.07666	T	0.141	0.27581	B	0.094	0.30180	B	0.002898	0.35770	N	0.261651	0.996778	0.81001	D	0.795	0.19620	N	1.41	0.33412	T	-0.4	0.13805	N	0.243	0.27435	-1.1045	0.03588	T	0.044	0.18906	T	10	0.006298989	0.00142	T	.	.	.	0.030	0.07022	.	.	0.354822389136	0.35094	0.4693041300737001	0.46849	0.303529871643	0.32676	0.397834867239	0.24768	T	0.001078	0.08170	T	-0.523335	0.00421	T	-0.508254	0.21494	T	0.00808493835329	0.00096	T	0.782022	0.41734	T	0.03338402	0.03547	0.062605314	0.12274	0.04251072	0.06460	0.063512236	0.12592	-6.083	0.46969	T	.	.	0.079	0.07650	B	.;.;.;.;.	.;.;.;.;.	2.311986	0.29597	18.17	0.69741362235256077	0.09070	0.94124	0.60185	D	AEFGBI	0.313235	0.41845	N	-0.445156418736626	0.23905	1.287015	-0.300766120914922	0.28074	1.562477	0.999999799646163	0.74766	0.626454	0.40138	0	0.550933	0.16991	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.25	4.26	0.49832	3.429000	0.52567	0.834000	0.21977	-0.190000	0.09434	0.996000	0.39380	0.284000	0.24125	0.243000	0.23080	0.0:0.9054:0.0:0.0946	11.200	0.47962	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.004076	0.014620	0.000000	0.000000	0.000000	0.015152	0.02632	3219.33	273	chr17	28959404	.	C	T	3219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=914;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.648;SOR=0.601	GT:AD:DP:GQ:PL	0/1:138,135:273:99:3233,0,3107	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:47,59:106:99:867,0,387	1	0	18	0
chr17	41029780	41029780	G	A	exonic	KRTAP1-4	.	nonsynonymous SNV	KRTAP1-4:NM_001257305:exon1:c.C299T:p.P100L	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.035437870738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352875926	2.07e-06	2.737e-06	4.111e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.669e-05	1.206e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001055	0.40475	N	0.000000	.	.	.	3.295	0.90403	M	0.65	0.52642	T	-9.6	0.98526	D	0.736	0.73645	-0.4403	0.70720	T	0.226	0.59121	T	6	0.81892586	0.81110	D	0.035438	0.56343	D	0.278	0.59497	0.586	0.71371	0.529110813561	0.52559	0.15312982700578628	0.15234	0.00497184657375	0.00442	0.423657357693	0.28340	T	0.041731	0.25955	T	0.0694802	0.60785	D	-0.137973	0.60294	T	0.999636292457581	0.98254	D	.	.	.	0.7580087	0.81336	0.6720887	0.80755	0.7580087	0.81337	0.6720887	0.80756	-7.144	0.55078	T	.	.	0.231	0.46366	B	.	.	4.074027	0.60556	24.2	0.9989234801979362	0.96589	0.95803	0.66220	D	AEFGBI	0.472360	0.51750	N	0.387757075627922	0.60758	4.268322	0.434564922337925	0.63733	4.61292	0.261138650256259	0.18791	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	5.722000	0.68134	6.008000	0.52598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.0:0.0:1.0:0.0	13.627	0.61644	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2014.33	180	chr17	41029780	.	G	A	2014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=1738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.687;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,76:180:99:1|0:41029779_C_T:2028,0,4108:41029779	18	0	1	0
chr17	41379113	41379113	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.G1066A:p.V356M	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00579073	0.0024	0	8.637e-05	0.0302	0	0.0002	0.0011	0.0011	0.0022251	344	154602	rs148645199	0.0009	0.0009	0.0010	0.0009	0.0276	0.0009	0.0009	0.0262	0.0257	0	4.472e-05	0.0031	0.0276	0	0.0002	1.888e-05	0.0013	0.0010	0.0010	0.0010	0.0010	0.0010	0.0257	0.0009	0.0008	0.0221	0.0208	0	0	0	0.0029	0.0257	0	0	4.41e-05	0	0.0012	.	.	.	0.555	0.09267	T	0.024	0.19075	B	0.062	0.26930	B	0.009278	0.30438	N	0.234157	0.985026	0.24748	N	-0.95	0.01262	N	-2.48	0.89071	D	.	.	.	0.229	0.25745	-0.9838	0.34116	T	0.006	0.02206	T	9	0.008939803	0.00202	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.10690974598968886	0.10620	0.0552089449468	0.06109	0.46092659235	0.33437	T	0.110092	0.42451	T	-0.449949	0.01130	T	-0.396784	0.33759	T	0.00646675409805137	0.00072	T	0.762924	0.38892	T	0.028923761	0.02306	0.04457378	0.05806	0.028923761	0.02306	0.04457378	0.05805	-5.001	0.36851	T	.	.	0.182	0.39477	B	.	.	-1.250542	0.00482	0.010	0.073145266585711813	0.00039	0.10519	0.16003	N	AEFDGBI	0.054249	0.09847	N	-1.38998069614707	0.02731	0.1210226	-1.24328460578461	0.05231	0.248761	0.00949678406048289	0.11864	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.759	0.17584	-1.510000	0.02366	-15.051000	0.00374	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1592:0.4544:0.0:0.3864	4.095	0.09460	164	0.93620	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	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	4527.33	363	chr17	41379113	.	C	T	4527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=1250;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.042;QD=12.47;ReadPosRankSum=0.373;SOR=0.689	GT:AD:DP:GQ:PL	0/1:190,173:363:99:4541,0,5121	18	0	1	0
chr17	42795506	42795506	G	A	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon14:c.G1999A:p.A667T,WNK4:NM_032387:exon15:c.G3007A:p.A1003T	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0251340641637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.061	0.45530	T	0.483	0.36807	P	0.122	0.32387	B	0.048770	0.23221	N	0.309243	0.981831	0.25009	N	0.805	0.20218	L	-0.51	0.70597	T	-1.25	0.31576	N	0.173	0.18512	-0.8503	0.51948	T	0.207	0.56622	T	10	0.17086548	0.31774	T	0.025134	0.48119	D	0.097	0.27909	0.104	0.01698	0.660021366681	0.65717	0.20941212748353377	0.20857	0.583224120598	0.54045	0.461492359638	0.33515	T	0.221623	0.58524	T	-0.0455543	0.45119	T	-0.303212	0.44385	T	0.843604326248169	0.49624	D	0.790621	0.43132	T	0.2618027	0.49239	0.34679434	0.60343	0.2618027	0.49239	0.34679434	0.60342	-3.767	0.20312	T	.	.	0.128	0.27313	B	.	.	3.941681	0.57682	23.9	0.98732130717574651	0.45363	0.47128	0.27914	N	AEFBCI	0.153448	0.27831	N	-0.208748307281576	0.32774	1.85213	-0.114767224216426	0.34794	2.005517	0.101843781558412	0.16393	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.74	4.69	0.58546	2.644000	0.46279	7.179000	0.57745	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.757:0.243	13.102	0.58643	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2806.33	266	chr17	42795506	.	G	A	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=915;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.019;SOR=0.614	GT:AD:DP:GQ:PL	0/1:150,116:266:99:2820,0,3837	18	0	1	0
chr17	45024467	45024467	T	C	exonic	DCAKD	.	nonsynonymous SNV	DCAKD:NM_001128631:exon5:c.A662G:p.Y221C,DCAKD:NM_001288654:exon5:c.A662G:p.Y221C,DCAKD:NM_001288655:exon5:c.A662G:p.Y221C,DCAKD:NM_001321326:exon5:c.A662G:p.Y221C,DCAKD:NM_024819:exon5:c.A662G:p.Y221C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0151722201468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	5.978e-05	5.5e-07	1.5e-07	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	9.002e-07	0	0	6.579e-06	1.314e-05	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.047	0.40319	D	0.085	0.41074	T	0.997	0.70673	D	0.841	0.60228	P	0.006698	0.31864	N	0.331917	0.999637	0.47961	D	2.045	0.56016	M	0.83	0.47815	T	-0.87	0.23590	N	0.2	0.25253	-0.8199	0.53940	T	0.186	0.53631	T	10	0.34980762	0.51866	T	0.015172	0.35746	T	0.184	0.45763	0.59	0.71874	0.630135089153	0.62710	.	.	0.308903704434	0.33204	0.513333499432	0.40689	T	0.039585	0.25240	T	-0.0496303	0.44504	T	-0.309067	0.43760	T	0.453320434824447	0.30919	T	0.547145	0.18749	T	0.09595004	0.22591	0.067387685	0.13933	0.09595004	0.22591	0.067387685	0.13933	-4.23	0.27184	T	.	.	0.129	0.27702	B	.;.;.;.;.	.;.;.;.;.	2.947906	0.39217	20.9	0.98639373244922324	0.44028	0.90659	0.52020	D	AEFDGBI	0.339373	0.43654	N	0.406156486891768	0.61761	4.381601	0.392400511391155	0.61097	4.305029	0.911378778765922	0.26365	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	1.187000	0.31699	3.515000	0.38865	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.1542:0.0:0.0:0.8458	9.682	0.39241	604	0.67577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	85	chr17	45024467	.	T	C	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=747;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.03;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1181,0,1102	18	0	1	0
chr17	46297247	46297247	A	C	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.A2114C:p.K705T	.	593	923	6	0	0	6	0.00323974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0115993309011	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199798787	0.0034	0.0028	0.0036	0.0033	0.0071	0.0033	0.0032	0.0060	0.0056	0.0006	0.0071	0.0002	0	0.0029	0.0032	0.0042	0.0046	0.0003	0.0010	0.0026	0.0013	0.0007	0.0013	0.0008	0.0007	0.0009	0.0008	0.0008	0	0.0011	0	0	0	0	0.0013	0	0	0.168	0.23007	T	0.375	0.16376	T	0.947	0.53479	P	0.932	0.66722	D	.	.	.	.	1	0.08975	N	2.57	0.75187	M	0.29	0.59037	T	-3.16	0.64246	D	0.133	0.16447	-0.8855	0.49315	T	0.203	0.56087	T	9	0.078879654	0.12624	T	0.011599	0.29387	T	0.088	0.25558	.	.	0.082315109003	0.07666	0.06780361612492289	0.06718	.	.	0.591137766838	0.51655	T	0.012151	0.10726	T	-0.214747	0.18716	T	-0.546246	0.17687	T	0.793056726455688	0.45890	D	0.605039	0.22725	T	0.15257269	0.34628	0.07797738	0.17422	0.15257269	0.34627	0.07797738	0.17422	-6.089	0.47018	T	.	.	0.127	0.30211	B	.;.	.;.	1.570324	0.20107	14.59	0.98487036650356552	0.42049	0.00355	0.01825	N	AEFI	0.026510	0.02004	N	-0.717698403465264	0.15525	0.7831285	-1.02140896873369	0.09315	0.4627302	4.45607857103555E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.72	-3.45	0.04479	-0.364000	0.07635	0.034000	0.13773	0.240000	0.18237	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.3371:0.4861:0.1768:0.0	3.643	0.07712	0	0.99858	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	551.81	20	chr17	46297247	.	A	C	551.81	.	AC=2;AF=0.053;AN=38;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=0.9971;MLEAC=2;MLEAF=0.053;MQ=24.29;QD=27.59;SOR=6.091	GT:AD:DP:GQ:PL	1/1:0,20:20:60:579,60,0	18	1	0	0
chr17	50167584	50167584	G	A	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon3:c.G160A:p.V54I,SGCA:NM_001135697:exon3:c.G160A:p.V54I	Muscular dystrophy, limb-girdle, type 2D, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1199843	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D	MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.061645376259	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485826147	1.369e-06	1.368e-06	0	2.751e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.442	0.13252	T	0.046	0.21875	B	0.023	0.19966	B	0.356534	0.04277	N	1.395440	1	0.08975	N	0.805	0.20218	L	-4.45	0.97538	D	-0.17	0.09965	N	0.105	0.08925	0.126	0.84646	D	0.811	0.93607	D	10	0.1067574	0.19798	T	0.061645	0.68398	D	0.145	0.38592	0.382	0.39970	0.875241314499	0.87402	0.4482029116759175	0.44738	0.277942661672	0.30273	0.369259059429	0.20725	T	0.570016	0.85747	D	-0.0655601	0.42033	T	-0.331949	0.41251	T	0.041498090536587	0.03963	T	0.613939	0.23413	T	0.033268895	0.03511	0.039419584	0.04030	0.033268895	0.03511	0.039419584	0.04030	-5.966	0.45994	T	0.13272159753065002	0.14176	0.087	0.11027	B	.;.	.;.	0.807377	0.11783	8.355	0.82181393638598299	0.14060	0.06065	0.12037	N	AEFBI	0.324343	0.42626	N	-0.950451593179536	0.09683	0.4593166	-1.01301253992451	0.09498	0.4729119	0.999591654652535	0.40745	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.53	-0.318	0.12098	0.003000	0.12984	2.646000	0.33784	0.676000	0.76740	0.000000	0.06391	0.193000	0.23512	0.128000	0.19490	0.176:0.3981:0.4259:0.0	7.697	0.27764	887	0.27948	Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3347.33	268	chr17	50167584	.	G	A	3347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=903;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.907;SOR=0.615	GT:AD:DP:GQ:PL	0/1:136,132:268:99:3361,0,3450	18	0	1	0
chr17	50839627	50839627	C	A	exonic	WFIKKN2	.	nonsynonymous SNV	WFIKKN2:NM_001330341:exon2:c.C60A:p.H20Q,WFIKKN2:NM_175575:exon2:c.C339A:p.H113Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0238067329244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.21066	T	0.298	0.20486	T	0.006	0.13644	B	0.008	0.13708	B	0.000340	0.45700	D	0.221148	0.541765	0.32060	D	-0.69	0.01958	N	-1.4	0.80474	T	-0.67	0.19297	N	0.083	0.05929	-0.8739	0.50234	T	0.182	0.52950	T	10	0.08648351	0.14704	T	0.023807	0.46785	T	0.255	0.56562	0.405	0.43738	0.517104213562	0.51352	0.288740832519075	0.28787	0.16745843582	0.18892	0.490766763687	0.37545	T	0.016618	0.13705	T	-0.125215	0.32274	T	-0.417639	0.31345	T	0.480374336242676	0.31911	T	0.582942	0.21167	T	0.07109354	0.15712	0.098442994	0.23471	0.07109354	0.15712	0.098442994	0.23470	-4.505	0.30954	T	.	.	0.087	0.14431	B	.;.	.;.	1.415683	0.18319	13.67	0.94588221213111279	0.25138	0.25132	0.22606	N	AEFDBI	0.232702	0.35574	N	-0.797699788323772	0.13370	0.6581529	-0.624817367335481	0.18856	1.00918	0.870016362843917	0.25397	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.53	2.42	0.28720	-0.459000	0.06805	0.121000	0.14917	0.597000	0.34315	0.289000	0.25224	0.935000	0.28640	0.985000	0.61073	0.0:0.7834:0.0:0.2166	10.389	0.43337	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2302.33	178	chr17	50839627	.	C	A	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.621;DP=1018;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.6;SOR=0.741	GT:AD:DP:GQ:PL	0/1:89,89:178:99:2316,0,2315	18	0	1	0
chr17	58756283	58756285	GAG	-	exonic	PPM1E	.	nonframeshift deletion	PPM1E:NM_014906:exon1:c.286_288del:p.E100del	.	247	1258	17	0	0	17	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0577	.	0.0331	0.0130	0.0424	0.0312	0	0.0246	0.03	0.0411	0.0012679	33	26028	rs544816257	0.0010	0.0080	0.0009	0.0012	0.0035	0.0010	0.0009	0.0030	0.0028	0.0015	0.0035	0.0019	0.0027	0.0010	0.0020	0.0007	0.0012	0.0032	3.333e-05	0.0003	3.905e-05	2.732e-05	2.445e-05	1.275e-05	8.08e-06	.	.	2.445e-05	0	0	0	0	0.0003	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081796	0.098765	0.086572	0.043919	0.250000	0.106383	0.100746	0.068182	0.02632	34.3	29	chr17	58756282	.	TGAG	T	34.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.185;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.968;SOR=0.409	GT:AD:DP:GQ:PL	0/1:26,3:29:48:48,0,1082	18	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	92	chr17	59737489	.	A	C	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.074;DP=765;ExcessHet=0;FS=125.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.29;SOR=6.665	GT:AD:DP:GQ:PL	0/1:65,27:92:53:53,0,990	18	0	1	0
chr17	59860348	59860348	C	T	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193613:exon6:c.G688A:p.V230I,TUBD1:NM_001193611:exon7:c.G1030A:p.V344I,TUBD1:NM_001193609:exon8:c.G1171A:p.V391I,TUBD1:NM_001193610:exon8:c.G1165A:p.V389I,TUBD1:NM_001193612:exon9:c.G814A:p.V272I,TUBD1:NM_016261:exon9:c.G1336A:p.V446I	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0322241718653	.	.	0.0003	0	0.0028	0	0	0	0	0	0.000207	32	154602	rs764428158	5.271e-05	5.404e-05	6.948e-05	3.578e-05	0.0017	4.281e-05	3.956e-05	0.0014	0.0012	0	0.0017	0	0	0	0	8.998e-07	3.315e-05	0	4.613e-05	4.599e-05	3.864e-05	5.398e-05	0.0005	2.115e-05	1.53e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	0	0	0	0.541	0.09806	T	0.807	0.08839	T	0.012	0.27697	B	0.02	0.29521	B	0.000781	0.41888	N	0.261137	0.589491	0.32443	D	0.155	0.08919	N	-1.1	0.79475	T	-0.04	0.11366	N	0.156	0.22098	-0.6403	0.63133	T	0.259	0.62988	T	10	0.012981564	0.00277	T	0.032224	0.54110	D	0.092	0.26621	0.605	0.73706	0.561371282746	0.55799	0.2653377443976471	0.26446	0.0896114288613	0.10122	0.37852782011	0.22047	T	0.013912	0.11944	T	-0.40593	0.02116	T	-0.362651	0.37745	T	0.0396597084950704	0.03630	T	0.851615	0.54093	D	0.032271173	0.03221	0.044664834	0.05837	0.032271173	0.03221	0.044664834	0.05837	-3.682	0.26968	T	.	.	0.088	0.17016	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.318032	0.29679	18.20	0.83361570235881521	0.14684	0.76170	0.37337	D	AEFDBCI	0.137771	0.25886	N	-0.344061586140005	0.27492	1.508711	-0.153447389446142	0.33276	1.901778	0.999941987565197	0.47345	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	3.67	0.41236	1.831000	0.38781	2.669000	0.33934	0.549000	0.26987	0.981000	0.35396	1.000000	0.68203	0.984000	0.60418	0.0:0.791:0.0:0.209	10.162	0.42033	507	0.75469	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	604.33	69	chr17	59860348	.	C	T	604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=700;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.55;SOR=0.922	GT:AD:DP:GQ:PL	0/1:42,27:69:99:618,0,993	18	0	1	0
chr17	63880507	63880507	A	G	exonic	GH2	.	nonsynonymous SNV	GH2:NM_022557:exon4:c.T721C:p.W241R,GH2:NM_022558:exon5:c.T464C:p.M155T	.	0	1506	15	1	0	17	0.00561241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0264370591706	0.0015	0.00119808	0.0032	0	0.0005	0	0.0095	0.0030	0.0044	0.0070	0.0028913	447	154602	rs61764020	0.0023	0.0023	0.0020	0.0026	0.0071	0.0022	0.0022	0.0067	0.0065	0.0002	0.0002	0.0016	0	0.0122	0.0043	0.0017	0.0019	0.0071	0.0027	0.0027	0.0021	0.0033	0.0044	0.0025	0.0024	0.0029	0.0026	0.0002	0	0.0006	0.0006	0	0.0145	0.0068	0.0031	0.0028	0.0044	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.46	0.88924	D	-0.18	0.09796	N	0.144	0.14480	-0.7783	0.56398	T	0.326	0.69470	T	8	0.004633844	0.00097	T	0.026437	0.49346	D	0.255	0.56562	0.417	0.45709	0.337868961071	0.33390	0.232146659423837	0.23129	0.102394651726	0.11590	0.369934737682	0.20822	T	.	.	.	-0.480942	0.00730	T	-0.460726	0.26521	T	0.00783980622075071	0.00092	T	0.155684	0.01361	T	.	.	.	.	.	.	.	.	-2.153	0.03818	T	.	.	0.159	0.35140	B	.	.	-0.867574	0.00981	0.039	0.69038374815443504	0.08845	0.02320	0.06650	N	AEFDBI	0.019037	0.00627	N	-1.06781481658037	0.07243	0.3358606	-1.07281189044129	0.08238	0.4041939	1.20928768109436E-4	0.05269	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.74	-1.33	0.08693	-2.120000	0.01410	-8.864000	0.00902	-1.374000	0.01167	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.5473:0.0:0.4527:0.0	8.059	0.29784	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003950	0.006173	0.000000	0.004274	0.000000	0.008621	0.006711	0.008000	0.02632	2612.33	234	chr17	63880507	.	A	G	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.681;SOR=0.693	GT:AD:DP:GQ:PL	0/1:126,108:234:99:2626,0,3213	18	0	1	0
chr17	64363155	64363155	C	T	exonic	PECAM1	.	nonsynonymous SNV	PECAM1:NM_000442:exon6:c.G1210A:p.V404I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs996876302	0.0001	7.157e-05	9.707e-05	0.0002	0.0012	9.531e-05	8.485e-05	0.0007	0.0005	0.0001	0	0	0	0	0.0007	0.0001	0.0002	0.0012	6.565e-05	6.562e-05	7.709e-05	5.37e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0.0010	0.057	0.37966	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	-0.88	0.23808	N	0.279	0.31590	.	.	.	.	.	.	.	0.30003756	0.47553	T	.	.	.	.	.	.	.	.	.	0.2939318377310535	0.29306	.	.	.	.	.	0.042333	0.26149	T	.	.	.	.	.	.	.	.	.	0.70083	0.31049	T	.	.	.	.	.	.	.	.	-3.241	0.12988	T	.	.	0.112	0.21987	B	.	.	4.247749	0.64452	24.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.035000	0.57007	7.602000	0.61596	0.581000	0.30040	0.993000	0.37899	1.000000	0.68203	0.069000	0.16583	.	.	.	934	0.15400	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	133	chr17	64363155	.	C	T	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=868;ExcessHet=0;FS=8.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.387;SOR=1.421	GT:AD:DP:GQ:PL	0/1:76,57:133:99:1570,0,1929	18	0	1	0
chr17	64457612	64457612	T	A	exonic	MILR1	.	nonsynonymous SNV	MILR1:NM_001291317:exon3:c.T310A:p.Y104N,MILR1:NM_001085423:exon4:c.T580A:p.Y194N,MILR1:NM_001369493:exon4:c.T580A:p.Y194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	0.81459	.	.	.	.	.	.	.	0.86498326	0.85737	D	.	.	.	.	.	.	.	.	.	0.4936037400807583	0.49281	.	.	.	.	.	0.491962	0.81612	T	.	.	.	.	.	.	.	.	.	0.852615	0.53799	D	.	.	.	.	.	.	.	.	-7.281	0.60469	T	0.8230171987478151	0.89560	0.806	0.78883	P	.;.;.	.;.;.	2.778758	0.36494	20.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.263000	0.32606	2.261000	0.31761	-0.120000	0.14102	0.090000	0.22578	0.474000	0.25067	0.001000	0.02609	.	.	.	935	0.14827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3009.33	219	chr17	64457612	.	T	A	3009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.5;DP=843;ExcessHet=0;FS=3.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.048;SOR=0.474	GT:AD:DP:GQ:PL	0/1:102,117:219:99:3023,0,2635	18	0	1	0
chr17	73200000	73200000	C	T	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon5:c.C1049T:p.T350M	Congenital disorder of glycosylation, type IIg	0	1515	6	1	0	8	0.00263331	.	.	.	101806	not_provided|COG1_congenital_disorder_of_glycosylation|COG1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.246	0.0277046766088	0.0062	0.00339457	0.0061	0.0025	0.0025	0	0.0069	0.0094	0.0078	0.0007	.	.	.	rs117344829	0.0078	0.0078	0.0080	0.0076	0.0093	0.0076	0.0076	0.0091	0.0091	0.0012	0.0031	0.0003	0	0.0067	0.0054	0.0093	0.0066	0.0006	0.0063	0.0063	0.0068	0.0057	0.0102	0.0060	0.0058	0.0096	0.0093	0.0017	0.0077	0.0070	0.0006	0	0.0059	0.0034	0.0102	0.0062	0.0004	0.008	0.58626	D	0.018	0.59732	D	1.0	0.90584	D	0.935	0.67021	D	0.000000	0.84330	D	0.047990	1	0.81001	D	2.72	0.79541	M	1.84	0.24656	T	-2.48	0.54059	N	0.732	0.73285	-0.9621	0.38781	T	0.112	0.40145	T	10	0.0085653365	0.00194	T	0.027705	0.50487	D	0.246	0.55340	.	.	0.439445477881	0.43565	.	.	0.511076341954	0.49199	0.426174849272	0.28685	T	0.073173	0.52068	T	-0.267449	0.12042	T	-0.147554	0.59460	T	0.0213802504083464	0.00841	T	0.963604	0.86445	D	0.17031287	0.37598	0.17683838	0.40246	0.16882595	0.37363	0.17990056	0.40754	-4.274	0.27811	T	0.7373387316117861	0.81930	0.133	0.28863	B	.;.	.;.	4.207358	0.63535	24.6	0.93951743452724468	0.24014	0.97496	0.75125	D	AEFDBCI	0.589269	0.58622	D	0.587058124331829	0.72366	5.794405	0.546858588605413	0.71179	5.615553	0.999999205739479	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	4.84	0.62125	5.632000	0.67493	3.252000	0.37033	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.873000	0.41610	0.0:0.9308:0.0:0.0692	14.655	0.68434	469	0.78175	.;.	.	.	.	.	rs117344829	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.010870	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1443.33	99	chr17	73200000	.	C	T	1443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.088;SOR=0.776	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1457,0,1146	18	0	1	0
chr17	74930587	74930587	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.G952A:p.G318R	.	426	1014	80	2	0	84	0.0397727	.	.	.	704366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0056	0.00419329	0.0077	0.0014	0.0020	0.0003	0.0005	0.0069	0.0089	0.0259	0.0070633	1092	154602	rs141455683	0.0071	0.0071	0.0063	0.0078	0.0260	0.0070	0.0069	0.0250	0.0247	0.0012	0.0029	0.0123	0.0002	0.0008	0.0260	0.0063	0.0077	0.0259	0.0049	0.0049	0.0049	0.0049	0.0222	0.0046	0.0045	0.0188	0.0175	0.0014	0.0011	0.0030	0.0089	0.0006	0.0005	0.0136	0.0069	0.0066	0.0222	0.524	0.07163	T	0.502	0.11115	T	0.009	0.15093	B	0.008	0.13708	B	0.915206	0.07441	N	1.037460	1	0.08975	N	0.55	0.14455	N	2.0	0.21473	T	1.04	0.01332	N	0.071	0.04426	-0.9554	0.40024	T	0.014	0.05705	T	10	0.003012538	0.00049	T	.	.	.	0.013	0.01715	0.332	0.31843	0.0297737177859	0.01360	0.1529508724129356	0.15217	0.191530735651	0.21486	0.232459336519	0.02155	T	0.008023	0.07382	T	-0.673912	0.00052	T	-0.721208	0.04737	T	0.000571438700328689	0.00005	T	0.342266	0.07430	T	0.028871108	0.02291	0.052443184	0.08640	0.028871108	0.02290	0.052443184	0.08639	-3.992	0.23683	T	.	.	0.073	0.04889	B	.;.	.;.	0.111383	0.05106	1.639	0.49088204705005861	0.04150	0.07585	0.13596	N	AEFGBI	0.122439	0.23758	N	-1.4242460922757	0.02427	0.1071593	-1.40111998355244	0.03241	0.150791	0.719820147298435	0.22918	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.32	-1.72	0.07671	-0.361000	0.07664	-0.207000	0.10889	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4099:0.105:0.4851:0.0	7.43	0.26294	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	1	0	0.015609	0.000000	0.005435	0.017544	0.000000	0.008621	0.030488	0.022727	0.05263	7055.83	310	chr17	74930587	.	G	A	7055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.18;DP=1306;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.72;SOR=0.755	GT:AD:DP:GQ:PL	0/1:166,144:310:99:3787,0,4107	17	0	2	0
chr17	75591171	75591171	G	C	splicing	MYO15B	NM_001309242:exon4:c.2361-1G>C	.	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891663489	1.09e-05	9.542e-06	3.96e-06	1.677e-05	1.893e-05	3.92e-06	2.57e-06	7.8e-06	5.47e-06	0	0	0	0	0	0	1.893e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.446295	0.69071	25.3	0.993219536294915	0.59431	0.97016	0.72204	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999988982086	0.74766	0.214321	0.04125	1	0.287357	0.05204	1	0.129117	0.03641	0	0.085775	0.02375	0	0.964817	0.68067	5.01	5.01	0.66477	4.362000	0.59241	11.023000	0.84978	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.261000	0.23543	0.0:0.0:1.0:0.0	16.077	0.80784	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2771.33	250	chr17	75591171	.	G	C	2771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=993;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.58;SOR=0.587	GT:AD:DP:GQ:PL	0/1:137,113:250:99:2785,0,3444	18	0	1	0
chr17	75749019	75749024	CCACCA	-	exonic	ITGB4	.	nonframeshift deletion	ITGB4:NM_001005619:exon26:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_000213:exon27:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_001005731:exon27:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_001321123:exon27:c.3290_3295del:p.T1098_T1099del	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	187.32	191	chr17	75749018	.	TCCACCA	T	187.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.11;DP=918;ExcessHet=0;FS=130.635;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.5;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,20:191:99:0|1:75749018_TCCACCA_T:201,0,6892:75749018	18	0	1	0
chr17	75749030	75749030	-	GGGTTG	exonic	ITGB4	.	nonframeshift insertion	ITGB4:NM_001005619:exon26:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_000213:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_001005731:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_001321123:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	196.29	188	chr17	75749030	.	A	AGGGTTG	196.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.402;DP=947;ExcessHet=0;FS=129.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=2.57;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,20:188:99:0|1:75749018_TCCACCA_T:210,0,6768:75749018	18	0	1	0
chr17	75904860	75904860	A	G	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon1:c.T16C:p.W6R	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.360057109932	.	0.000998403	0.0018	0	0	0	0	0.0040	0.0086	0.0010	0.0004269	66	154602	rs566150682	0.0047	0.0045	0.0048	0.0047	0.0042	0.0046	0.0046	0.0041	0.0040	0.0004	0.0013	0.0038	3.224e-05	0.0474	0.0015	0.0042	0.0046	0.0007	0.0067	0.0067	0.0049	0.0086	0.0063	0.0063	0.0062	0.0058	0.0056	0.0007	0	0.0013	0.0039	0	0.0567	0	0.0063	0.0057	0.0009	0.029	0.45756	D	0.033	0.53072	D	0.679	0.41373	P	0.146	0.33945	B	0.216012	0.16251	U	0.353696	1	0.81001	D	2.3	0.65703	M	1.55	0.29866	T	-0.41	0.14000	N	0.417	0.45709	-1.0928	0.05082	T	0.056	0.23565	T	10	0.006161213	0.00139	T	0.360057	0.92489	D	0.151	0.39764	0.666	0.80401	0.219573609325	0.21563	0.3582979833173833	0.35743	0.732726945152	0.62802	0.755910933018	0.75321	T	0.007621	0.07015	T	-0.409516	0.02002	T	-0.349342	0.39280	T	0.0787164563936236	0.09821	T	0.590841	0.21745	T	0.25623605	0.48662	0.23441918	0.48658	0.25623605	0.48662	0.23441918	0.48657	-2.028	0.03288	T	.	.	0.437	0.61567	A	.	.	2.307293	0.29529	18.15	0.97363928222197305	0.33588	0.08830	0.14700	N	AEFGBHCIJ	0.165388	0.29187	N	-0.382858359099233	0.26079	1.420604	-0.393484089551366	0.25190	1.38383	0.999999999999799	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.36	0.37579	1.277000	0.32772	3.605000	0.39235	0.651000	0.53179	0.951000	0.33123	1.000000	0.68203	0.070000	0.16646	0.6017:0.3138:0.0845:0.0	6.069	0.19105	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.005882	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.02632	362.33	57	chr17	75904860	.	A	G	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.081;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=-0.331;SOR=0.784	GT:AD:DP:GQ:PL	0/1:36,21:57:99:376,0,795	18	0	1	0
chr17	75921291	75921291	A	G	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon16:c.T1627C:p.C543R	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0003	0.0113818	0.0107	0	0.0743	0.0532	0.0012	0.0008	0.0053	0.0145	0.0049676	768	154602	rs149105732	0.0022	0.0023	0.0019	0.0024	0.0248	0.0021	0.0021	0.0236	0.0231	0.0002	0.0248	0	0.0180	0.0009	0.0031	0.0002	0.0038	0.0111	0.0030	0.0030	0.0028	0.0032	0.0277	0.0028	0.0027	0.0240	0.0226	0.0004	0	0.0126	0	0.0277	0.0006	0	0.0003	0.0052	0.0131	.	.	.	0.4	0.15010	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.3	0.16953	T	.	.	.	0.107	0.09207	-1.0015	0.29488	T	0.010	0.03811	T	9	0.0031125844	0.00052	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.29950660036042104	0.29863	.	.	0.35454428196	0.18588	T	0.033312	0.22860	T	-0.719549	0.00028	T	-0.786762	0.02255	T	0.00767586512083416	0.00089	T	0.408659	0.10529	T	0.21657169	0.44119	0.20557135	0.44732	0.21657169	0.44119	0.20557135	0.44731	-1.451	0.01667	T	.	.	0.085	0.17530	B	.;.;.	.;.;.	-0.621664	0.01514	0.096	0.26109745824211805	0.01235	0.02207	0.06435	N	AEFBI	0.097593	0.19680	N	-1.82035312717328	0.00497	0.02140268	-1.96463229033373	0.00363	0.01603274	0.99971168334012	0.42101	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.1	-10.2	0.00305	-2.286000	0.01233	-0.085000	0.12129	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1319:0.5972:0.2709:0.0	12.866	0.57330	823	0.40596	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	1735.33	150	chr17	75921291	.	A	G	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=781;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.952;SOR=0.728	GT:AD:DP:GQ:PL	0/1:80,70:150:99:1749,0,2165	18	0	1	0
chr17	79952669	79952669	C	T	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon4:c.G929A:p.R310H	.	419	1097	6	0	0	6	0.00272727	.	.	.	2368488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0177386175409	.	.	5.259e-05	0	0.0002	0	0	1.576e-05	0	0.0002	3.88e-05	6	154602	rs757938163	2.7e-05	3.283e-05	2.056e-05	3.355e-05	0.0002	2.021e-05	1.775e-05	0.0001	8.728e-05	0	6.811e-05	0	0	0	0	1.274e-05	0.0001	0.0002	5.254e-05	5.253e-05	5.137e-05	5.377e-05	0.0002	2.556e-05	1.829e-05	5.282e-05	2.834e-05	2.411e-05	0	0.0002	0	0	0	0	2.939e-05	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	2.45	0.15028	T	-4.17	0.75456	D	0.879	0.87699	-0.9369	0.43103	T	0.131	0.44248	T	10	0.6146564	0.67637	D	0.017739	0.39556	T	0.500	0.78350	.	.	0.615969100344	0.61286	0.5711275582554005	0.57040	1.74234144677	0.90877	0.838685154915	0.87894	D	0.278499	0.65115	T	-0.0899381	0.38086	T	-0.0875313	0.64348	T	0.91136509180069	0.56691	D	0.979802	0.93081	D	0.7139252	0.78824	0.5390874	0.73363	0.7139252	0.78825	0.5390874	0.73364	-11.487	0.82262	D	.	.	0.508	0.64956	A	.;.	.;.	5.658805	0.92858	33	0.99956609889142545	0.99981	0.97844	0.77553	D	AEFDBCI	0.937373	0.93505	D	0.835157527215456	0.88247	9.507384	0.803946630522686	0.90065	10.24151	0.999999999999998	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.3	5.3	0.74745	7.550000	0.81121	5.729000	0.49511	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.559	0.91049	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	.	.	.	.	.	.	.	.	0.02632	2176.33	169	chr17	79952669	.	C	T	2176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=803;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.581;SOR=0.751	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2190,0,1795	18	0	1	0
chr17	80084982	80084982	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon13:c.G2229C:p.E743D,CCDC40:NM_017950:exon13:c.G2229C:p.E743D	Ciliary dyskinesia, primary, 15	2	1508	12	0	0	12	0.00396301	.	.	.	684722	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0127828540071	0.0005	.	0.0002	0	8.948e-05	0	0	0.0003	0	0.0003	0.0001746	27	154602	rs377219039	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0004	0	7.555e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0	0	0.0005	0.0006	0	0	0.0034	0.0003	0	0.0002	0.258	0.16738	T	0.332	0.39340	T	0.091	0.25247	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	1.8	0.47472	L	0.84	0.47477	T	-1.13	0.29114	N	0.179	0.19995	-0.9847	0.33903	T	0.125	0.42903	T	9	0.04432112	0.03376	T	0.012783	0.31649	T	0.066	0.19193	0.112	0.02175	0.0846915920261	0.08053	0.14519740819216256	0.14442	0.166350972755	0.18771	0.50788640976	0.39927	T	0.068592	0.33496	T	-0.492061	0.00633	T	-0.63407	0.10107	T	0.0316234454512596	0.02246	T	0.624238	0.24084	T	0.12479752	0.29272	0.14009024	0.33404	0.12629017	0.29583	0.11753162	0.28372	-4.621	0.32435	T	0.5833244653021936	0.65014	0.136	0.29697	B	.;.	.;.	2.246626	0.28697	17.88	0.98731452613120307	0.45363	0.35098	0.25222	N	AEFDGBI	0.123745	0.23950	N	-0.54550014646685	0.20625	1.088645	-0.539586674290993	0.21083	1.138833	3.8526206416725E-4	0.06781	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.06	0.976	0.18846	0.417000	0.20934	2.183000	0.31145	0.596000	0.33519	0.790000	0.29595	0.998000	0.33993	0.849000	0.40138	0.3431:0.0:0.6569:0.0	10.707	0.45160	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	142	chr17	80084982	.	G	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=787;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.045;SOR=0.8	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1598,0,2048	18	0	1	0
chr17	81189952	81189952	T	C	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon24:c.A3023G:p.K1008R,CEP131:NM_001319229:exon24:c.A3032G:p.K1011R,CEP131:NM_001319228:exon25:c.A3140G:p.K1047R,CEP131:NM_014984:exon25:c.A3131G:p.K1044R	.	0	225	1	0	0	1	0.00221729	.	.	.	2295886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.0842123836359	.	.	9.333e-05	0	8.767e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs768601249	7.952e-05	8.003e-05	5.726e-05	0.0001	0.0023	6.748e-05	6.28e-05	0.0013	0.0011	0.0001	0.0002	3.835e-05	0	0	0.0023	6.484e-05	0.0001	0.0001	8.543e-05	8.537e-05	0.0001	4.035e-05	0.0004	4.957e-05	3.963e-05	7.282e-05	3.052e-05	0.0001	0	6.542e-05	0	0	0	0	7.352e-05	0	0.0004	0.012	0.54683	D	0.079	0.49663	T	0.999	0.77913	D	0.964	0.72923	D	0.000000	0.84330	D	0.000000	0.999852	0.49910	D	2.215	0.62545	M	1.55	0.29866	T	-2.36	0.52128	N	0.698	0.73645	-0.9281	0.44415	T	0.163	0.49881	T	10	0.23944527	0.41085	T	0.084212	0.74278	D	0.154	0.40340	.	.	0.576573652137	0.57326	0.5823094729871933	0.58159	0.348132503314	0.36690	0.631657481194	0.57381	T	0.145272	0.48230	T	-0.235023	0.15989	T	-0.320325	0.42540	T	0.231581702828407	0.22027	T	0.820618	0.54589	T	0.19999005	0.41959	0.2778048	0.53736	0.19999005	0.41958	0.2778048	0.53735	-7.154	0.56188	T	.	.	0.232	0.55018	B	.;.;.;.;.	.;.;.;.;.	4.246635	0.64428	24.7	0.99862102318413215	0.94093	0.93503	0.58394	D	AEFDGBHCI	0.633900	0.61397	D	0.454102552142901	0.64435	4.698163	0.408640145312235	0.62101	4.420148	0.999998354297356	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.683535	0.66460	0	.	.	4.97	4.97	0.65419	2.387000	0.44043	4.815000	0.45072	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:0.0:1.0	14.287	0.65803	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1556.33	80	chr17	81189952	.	T	C	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.606;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=1.68;SOR=0.745	GT:AD:DP:GQ:PL	0/1:18,62:80:99:1570,0,382	18	0	1	0
chr17	82437192	82437192	G	A	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_001369488:exon7:c.G452A:p.R151Q,HEXD:NM_001330542:exon8:c.G728A:p.R243Q,HEXD:NM_173620:exon8:c.G728A:p.R243Q,HEXD:NM_001369487:exon9:c.G452A:p.R151Q	.	412	1105	5	0	0	5	0.00225734	.	.	.	2818132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.199	0.0534502764051	0.0013	0.000998403	0.0017	0.0008	0.0031	0.0001	0	0.0023	0.0024	7.837e-05	0.0016817	260	154602	rs61978618	0.0020	0.0020	0.0020	0.0020	0.0042	0.0019	0.0019	0.0029	0.0025	0.0004	0.0029	0.0033	5.103e-05	0.0002	0.0042	0.0022	0.0022	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0023	0.0021	0.0008	0	0.0030	0.0035	0	9.418e-05	0.0034	0.0024	0.0047	0	0.15	0.24661	T	0.224	0.27235	T	.	.	.	.	.	.	0.447444	0.04795	N	1.274100	1	0.08975	N	.	.	.	-2.6	0.89888	D	0.29	0.04161	N	0.296	0.33469	-0.6620	0.62188	T	0.307	0.67759	T	10	0.0118816495	0.00258	T	0.05345	0.65475	D	0.199	0.48268	.	.	0.493964856914	0.49030	0.30445025025136957	0.30358	0.226712902874	0.25215	0.236880138516	0.02516	T	.	.	.	-0.374553	0.03370	T	-0.314787	0.43144	T	0.0045097574038169	0.00048	T	0.781422	0.44511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03026	B	.;.;.;.;.	.;.;.;.;.	0.498680	0.08677	5.450	0.62059662861157794	0.06866	0.04044	0.09486	N	AEFDBCI	0.045696	0.07504	N	-1.29046968090823	0.03789	0.1699009	-1.29803432129694	0.04457	0.2103008	0.390789892734485	0.20045	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.699875	0.68795	0	.	.	5.17	-1.28	0.08834	0.786000	0.26505	1.569000	0.27405	-0.116000	0.14526	0.031000	0.20493	0.737000	0.26456	0.006000	0.07323	0.3979:0.2805:0.3215:0.0	5.171	0.14439	.	.	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2474.33	192	chr17	82437192	.	G	A	2474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=846;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.755;SOR=0.645	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2488,0,2009	18	0	1	0
chr18	6986346	6986346	C	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5170T:p.A1724S	Poretti-Boltshauser syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9789	0.772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00789610727358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.229	0.25210	T	0.851	0.46962	P	0.507	0.47859	P	0.000179	0.48594	D	0.142430	0.997087	0.43619	D	2.535	0.73915	M	2.73	0.11839	T	-2.03	0.46673	N	0.174	0.18649	-1.1167	0.02552	T	0.055	0.23186	T	10	0.30065727	0.47612	T	0.007896	0.20955	T	0.193	0.47281	0.624	0.75916	0.294561560033	0.29076	0.11219068982774721	0.11148	0.343823149758	0.36306	0.369797110558	0.20803	T	0.037119	0.24357	T	-0.114273	0.34065	T	-0.401922	0.33161	T	0.759025783697775	0.43796	D	0.689731	0.29897	T	0.095100835	0.22375	0.16433366	0.38074	0.095100835	0.22375	0.16433366	0.38073	-4.817	0.34789	T	0.2679458680316155	0.36092	0.124	0.25946	B	.	.	3.757419	0.53892	23.4	0.99706873301015986	0.81074	0.97536	0.75390	D	AEFBI	0.516904	0.54325	D	0.347501104445339	0.58608	4.034056	0.403818055354086	0.61800	4.385578	0.999629276494651	0.41093	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	2.828000	0.47822	3.406000	0.38159	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	20.059	0.97662	861	0.33516	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.33	68	chr18	6986346	.	C	A	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=736;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.658;SOR=0.906	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1104,0,631	18	0	1	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H,MTCL1:NM_001378206:exon6:c.G2909A:p.R970H,MTCL1:NM_001378207:exon6:c.G2909A:p.R970H,MTCL1:NM_015210:exon7:c.G1829A:p.R610H	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	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	0.040692	0.032967	0.038147	0.062130	0.000000	0.060345	0.024540	0.030534	0.05263	1424.83	28	chr18	8786033	.	G	A	1424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.36;DP=724;ExcessHet=0.119;FS=0.749;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.876;SOR=0.835	GT:AD:DP:GQ:PL	0/1:19,9:28:99:256,0,432	17	0	2	0
chr18	8825273	8825273	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378207:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378206:exon14:c.C4843T:p.R1615C,MTCL1:NM_015210:exon15:c.C3763T:p.R1255C	.	426	1064	30	2	0	34	0.0157262	.	.	.	727831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0018	0.00319489	0.0025	0.0026	0.0015	0	0	0.0013	0.0064	0.0148	0.0024385	377	154602	rs115783507	0.0017	0.0018	0.0013	0.0021	0.0150	0.0016	0.0016	0.0142	0.0140	0.0024	0.0013	0.0066	0	0.0002	0.0093	0.0007	0.0026	0.0150	0.0019	0.0019	0.0017	0.0021	0.0139	0.0017	0.0016	0.0112	0.0102	0.0026	0	0.0014	0.0032	0	0	0.0034	0.0010	0.0033	0.0139	0.231	0.18246	T	0.058	0.48336	T	0.04	0.21238	B	0.006	0.12133	B	0.808809	0.09266	N	0.896444	1	0.08975	N	1.12	0.28775	L	2.46	0.32238	T	-2.34	0.51811	N	0.121	0.17828	-0.9916	0.32193	T	0.058	0.24279	T	10	0.006587088	0.00149	T	.	.	.	0.058	0.16647	.	.	0.433269665224	0.42948	0.12311606395852297	0.12237	0.132553004888	0.14941	0.273410499096	0.06589	T	0.065638	0.32740	T	-0.542483	0.00324	T	-0.54034	0.18263	T	0.0187244205625075	0.00585	T	0.783822	0.42110	T	0.0751708	0.16919	0.030532356	0.01521	0.0751708	0.16918	0.030532356	0.01521	-5.308	0.40022	T	.	.	0.084	0.09723	B	.;.;.;.;.	.;.;.;.;.	1.482506	0.19084	14.08	0.6408629089340887	0.07398	0.72841	0.35641	D	AEFDBCI	0.292055	0.40303	N	-0.607389848959107	0.18722	0.9742389	-0.630697175372214	0.18706	1.000479	0.999981598357496	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.04	-0.226	0.12460	2.502000	0.45058	-0.736000	0.07640	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.028000	0.12845	0.1211:0.5581:0.1173:0.2035	3.262	0.06447	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.011364	0.05263	3888.83	150	chr18	8825273	.	C	T	3888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1418;ExcessHet=0.119;FS=7.264;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.068;SOR=0.504	GT:AD:DP:GQ:PL	0/1:71,79:150:99:2288,0,1822	17	0	2	0
chr18	8825858	8825858	A	G	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.A5305G:p.I1769V,MTCL1:NM_001378207:exon13:c.A5305G:p.I1769V,MTCL1:NM_001378206:exon14:c.A5428G:p.I1810V,MTCL1:NM_015210:exon15:c.A4348G:p.I1450V	.	419	1094	9	0	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0029	0.013778	0.0073	0.0096	0.0316	0.0090	0	0.0004	0.0067	0.0189	0.0065588	1014	154602	rs114538532	0.0028	0.0028	0.0026	0.0030	0.0227	0.0027	0.0027	0.0215	0.0210	0.0121	0.0227	0	0.0135	1.872e-05	0.0023	0.0004	0.0032	0.0168	0.0048	0.0048	0.0047	0.0048	0.0182	0.0045	0.0044	0.0152	0.0140	0.0102	0	0.0072	0	0.0116	0	0	0.0005	0.0047	0.0182	0.895	0.02544	T	0.88	0.18340	T	0.999	0.77913	D	0.995	0.83170	D	0.018102	0.27560	N	0.258863	0.989554	0.41182	D	1.445	0.36358	L	1.05	0.39990	T	-0.21	0.10308	N	0.326	0.59308	-0.9056	0.47378	T	0.067	0.27537	T	10	0.009405106	0.00212	T	.	.	.	0.159	0.41286	.	.	0.411932830014	0.40813	0.18300381405324703	0.18219	0.119995550461	0.13513	0.584527075291	0.50723	T	0.056454	0.30292	T	-0.434518	0.01393	T	-0.377335	0.36033	T	0.0523804684983478	0.05913	T	0.884012	0.65351	D	0.023048159	0.01012	0.07058721	0.15015	0.023048159	0.01012	0.07058721	0.15015	-3.928	0.25936	T	.	.	0.234	0.53510	B	.;.;.;.;.	.;.;.;.;.	3.078410	0.41403	21.3	0.78542251170157373	0.12346	0.86358	0.45622	D	AEFDGBCI	0.579480	0.58027	D	0.172026826715289	0.49859	3.181739	0.184851319490432	0.49018	3.110064	0.999999942480612	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.55	3.13	0.35090	5.346000	0.65762	8.140000	0.76681	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8009:0.0:0.07:0.129	7.354	0.25879	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1528.33	119	chr18	8825858	.	A	G	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.931;DP=1265;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.924;SOR=0.711	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1542,0,1475	18	0	1	0
chr18	23871617	23871617	G	C	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon38:c.G4954C:p.E1652Q,LAMA3:NM_198129:exon38:c.G4954C:p.E1652Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4156455	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.563	0.0508009874853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-06	1.376e-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	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	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.01	0.62762	T	-2.54	0.55025	D	0.665	0.67391	0.481	0.90279	D	0.607	0.86064	D	9	0.9329901	0.92634	D	0.050801	0.64396	D	0.563	0.82118	0.792	0.91365	0.830602023414	0.82899	0.7980881287265624	0.79761	0.565652636351	0.52896	0.621536016464	0.55947	T	0.058989	0.30995	T	0.176367	0.71707	D	0.0155624	0.71343	D	0.996087193489075	0.88637	D	0.934107	0.75346	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80751	P	.;.;.	.;.;.	4.392897	0.67805	25.1	0.99816868365520095	0.89973	0.79720	0.39559	D	ALL	0.913668	0.87596	D	0.984741529541882	0.95256	13.45009	0.863751309119716	0.93794	12.28426	1.0	0.98316	0.740787	0.97801	0	0.658952	0.61834	0	0.547309	0.15389	0	0.673998	0.66042	0	.	.	5.43	5.43	0.79006	9.474000	0.96853	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:0.0:1.0:0.0	19.596	0.95533	569	0.70546	.;Laminin IV|Laminin IV;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1961.33	164	chr18	23871617	.	G	C	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=780;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-1.458;SOR=0.756	GT:AD:DP:GQ:PL	0/1:84,80:164:99:1975,0,2013	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:45,44:99:99:242,0,423	2	0	16	1
chr18	45838724	45838724	C	G	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C503G:p.P168R	.	400	1117	4	1	0	6	0.00267857	.	.	.	2818331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.627061634688	.	.	0.0004	0	0.0004	0	0	0.0007	0	0.0002	0.0001682	26	154602	rs200427190	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0	0.0002	4.007e-05	0	2.706e-05	0.0005	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	7.214e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0002	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999855	0.81001	D	3.085	0.87354	M	-1.41	0.84122	T	-5.81	0.88224	D	0.707	0.71055	0.722	0.93447	D	0.768	0.92118	D	10	0.7572001	0.76072	D	0.627062	0.96787	D	0.658	0.87184	0.686	0.82367	0.667001395416	0.66419	0.8473248099259854	0.84693	1.34573443082	0.83979	0.847498416901	0.89237	D	0.146195	0.48369	T	-0.000302729	0.51613	T	0.0779447	0.75441	D	0.685536324977875	0.40042	D	0.776822	0.40920	T	0.72846764	0.79637	0.6072378	0.77163	0.72846764	0.79639	0.6072378	0.77164	-12.594	0.87623	D	.	.	0.954	0.87304	P	.;.	.;.	4.657509	0.74301	26.1	0.99714585300455016	0.81563	0.83481	0.42595	D	AEFDBCI	0.678956	0.64315	D	0.58198810648916	0.72050	5.745275	0.465017630631698	0.65686	4.855407	0.999999999999273	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.603991	0.37454	0	.	.	4.53	4.53	0.55009	5.466000	0.66462	7.500000	0.59476	0.524000	0.24156	0.969000	0.34210	1.000000	0.68203	0.106000	0.18562	0.0:1.0:0.0:0.0	17.055	0.86406	978	0.04198	Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	842.33	66	chr18	45838724	.	C	G	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=638;ExcessHet=0;FS=3.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.09;SOR=0.373	GT:AD:DP:GQ:PL	0/1:31,35:66:99:856,0,730	18	0	1	0
chr18	52923838	52923838	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon4:c.G829A:p.E277K	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0224998122717	.	.	8.274e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs771145713	1.574e-05	1.779e-05	2.315e-05	8.255e-06	0.0002	1.048e-05	8.76e-06	7.291e-05	5.167e-05	0	0.0002	0	0	0	0	9.897e-06	1.657e-05	4.638e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.209	0.19710	T	0.233	0.25591	T	0.579	0.38789	P	0.066	0.27432	B	0.000238	0.47286	N	0.136685	0.780075	0.29342	N	0.46	0.12951	N	-1.08	0.77078	T	-1.48	0.36189	N	0.295	0.33360	-0.8412	0.52567	T	0.216	0.57771	T	10	0.22021118	0.38712	T	0.022	0.45395	T	0.152	0.39956	0.648	0.78542	0.636409761889	0.63342	0.41079762850668033	0.40995	0.210666846013	0.23558	0.429077595472	0.29082	T	0.090339	0.38564	T	-0.260961	0.12788	T	-0.343329	0.39969	T	0.0755427181720734	0.09408	T	0.735426	0.35200	T	0.1024908	0.24219	0.16330062	0.37888	0.1024908	0.24219	0.16330062	0.37887	-5.937	0.45749	T	.	.	0.146	0.32202	B	.;.	.;.	3.963558	0.58153	23.9	0.98207604186736375	0.39184	0.90630	0.51966	D	AEFI	0.370007	0.45653	N	-0.171433715342323	0.34328	1.958021	-0.0184863861835929	0.38881	2.297089	1.43896055914323E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	3.95	0.44952	2.781000	0.47437	6.342000	0.55477	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.073:0.1338:0.7932:0.0	10.596	0.44526	574	0.70151	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1383.33	102	chr18	52923838	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.787;SOR=0.659	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1397,0,1114	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,11:67:85:.:.:85,0,1464:.	1	0	18	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17:82:99:0|1:79373902_C_T:132,0,1862:79373902	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,36:81:99:0|1:79373902_C_T:936,0,1347:79373902	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,13:69:23:.:.:810,0,1358:.	8	0	6	5
chr19	757560	757560	A	G	exonic	MISP	.	nonsynonymous SNV	MISP:NM_173481:exon2:c.A614G:p.Q205R	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0467421359867	7.7e-05	.	0.0005	0	0.0003	0	0	0.0002	0	0.0021	0.0003105	48	154602	rs138591209	0.0003	0.0003	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	0	0.0002	0	0	0	0.0031	0.0002	0.0004	0.0020	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0002	0	0	0	0	0	0	0.0003	0.0005	0.0010	0.268	0.16144	T	0.133	0.34359	T	0.011	0.15914	B	0.007	0.12992	B	0.928818	0.08435	N	0.960553	0.999994	0.08975	N	1.75	0.45442	L	-0.04	0.63240	T	-0.95	0.25332	N	0.088	0.06587	-0.9348	0.43424	T	0.186	0.53511	T	10	0.014113814	0.00298	T	0.046742	0.62601	D	0.050	0.13987	.	.	0.372087925617	0.36815	0.05212438450017191	0.05154	0.0441939372007	0.04768	0.260098427534	0.04902	T	0.051998	0.29036	T	-0.505228	0.00534	T	-0.52858	0.19428	T	0.020833750554571	0.00783	T	0.429857	0.11651	T	0.04916709	0.08687	0.08118289	0.18430	0.04916709	0.08686	0.08118289	0.18429	-4.381	0.29298	T	.	.	0.092	0.13737	B	.	.	1.699458	0.21646	15.29	0.96653418886426334	0.30600	0.64726	0.32501	D	AEFBCI	0.112920	0.22301	N	-0.508947165086893	0.21790	1.158978	-0.452818355727368	0.23469	1.280042	0.0032387373511942	0.10007	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.4	2.25	0.27340	1.791000	0.38377	3.083000	0.36247	0.582000	0.30178	0.996000	0.39380	1.000000	0.68203	0.334000	0.25294	0.8057:0.0:0.1943:0.0	6.809	0.22978	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1065.33	77	chr19	757560	.	A	G	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.61;DP=958;ExcessHet=0;FS=4.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.131;SOR=0.898	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1079,0,945	18	0	1	0
chr19	2078377	2078377	C	A	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G184T:p.A62S	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0675547442364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191401179	1.231e-05	1.231e-05	1.089e-05	1.375e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.024	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000019	0.62929	D	0.115001	1	0.81001	D	3.17	0.88688	M	.	.	.	-2.92	0.61129	D	0.766	0.76666	0.357	0.88443	D	0.575	0.84644	D	9	0.94981706	0.96184	D	0.067555	0.70199	D	0.440	0.74377	0.908	0.98109	0.502691689211	0.49905	0.6365048007340953	0.63584	0.557863761712	0.52388	0.516822218895	0.41179	T	0.409745	0.76469	T	0.145626	0.68858	D	0.06826	0.74793	D	0.897014737129211	0.54885	D	0.971803	0.96633	D	0.40498737	0.61076	0.34952465	0.60576	0.40498737	0.61077	0.34952465	0.60575	-8.046	0.61383	D	.	.	0.584	0.68202	P	.;.;.;.;.	.;.;.;.;.	4.196953	0.63305	24.6	0.99607802714077698	0.74634	0.97246	0.73556	D	AEFBHCI	0.881093	0.80820	D	0.780229795783632	0.84855	8.405689	0.644106634475317	0.78172	6.823212	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	7.707000	0.83595	5.673000	0.49264	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.410	0.74637	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2478.33	201	chr19	2078377	.	C	A	2478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=1323;ExcessHet=0;FS=5.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.029;SOR=1.096	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2492,0,2695	18	0	1	0
chr19	2422193	2422193	G	A	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon14:c.G1798A:p.G600R,TMPRSS9:NM_182973:exon14:c.G2392A:p.G798R	.	425	1091	6	0	0	6	0.00274223	.	.	.	716331	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0491587557267	0.0049	0.00339457	0.0055	0.0020	0.0063	0	0.0014	0.0074	0.0025	0.0031	0.0052587	813	154602	rs34615361	0.0066	0.0064	0.0066	0.0066	0.0075	0.0065	0.0064	0.0073	0.0073	0.0012	0.0075	0.0052	0	0.0017	0.0052	0.0075	0.0067	0.0028	0.0046	0.0046	0.0048	0.0043	0.0097	0.0043	0.0042	0.0084	0.0079	0.0015	0	0.0097	0.0043	0	0.0008	0	0.0065	0.0066	0.0019	0.228	0.18434	T	0.666	0.19421	T	0.017	0.17573	B	0.011	0.15521	B	0.918903	0.07464	N	1.041790	1	0.08975	N	1.745	0.45235	L	-2.31	0.87750	D	-3.16	0.64246	D	0.088	0.08227	-0.7637	0.57204	T	0.338	0.70437	T	10	0.006436467	0.00146	T	0.049159	0.63689	D	0.102	0.29158	0.198	0.11110	0.568892413138	0.56554	0.2974450765012638	0.29657	0.0913205535873	0.10314	0.247013732791	0.03460	T	0.006645	0.06067	T	-0.475248	0.00789	T	-0.448473	0.27866	T	0.00500634221171029	0.00054	T	0.688231	0.29741	T	0.073057346	0.16298	0.14268434	0.33937	0.073057346	0.16298	0.14268434	0.33936	-3.684	0.19082	T	.	.	0.092	0.17232	B	.;.;.;.	.;.;.;.	0.552950	0.09217	5.998	0.65629639779480997	0.07827	0.03085	0.08005	N	AEFDBHCI	0.043218	0.06804	N	-1.0298061933884	0.07989	0.3730661	-1.08743081420131	0.07946	0.3886571	0.0224822703739294	0.13434	0.460665	0.09802	0	0.577304	0.33150	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	3.6	0.432	0.15742	0.096000	0.14986	2.332000	0.32201	0.618000	0.50648	0.000000	0.06391	0.984000	0.30665	0.002000	0.04165	0.6352:0.0:0.3648:0.0	6.022	0.18863	964	0.07719	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.025253	0.010870	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	4110.33	279	chr19	2422193	.	G	A	4110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=937;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.253;SOR=0.82	GT:AD:DP:GQ:PL	0/1:129,150:279:99:4124,0,3179	18	0	1	0
chr19	4217889	4217889	G	A	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon18:c.G2729A:p.R910H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.134509287276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407278495	1.516e-06	8.209e-06	0	3.082e-06	1.386e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	0	1.824e-05	1.386e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.038	0.51421	D	0.029	0.22227	B	0.005	0.12992	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.39	0.33842	T	-1.67	0.39887	N	0.092	0.12913	-1.0273	0.21331	T	0.050	0.21339	T	9	0.08962157	0.15541	T	0.134509	0.81694	D	0.024	0.04979	0.215	0.13498	0.112648838833	0.10856	0.19584140648752882	0.19501	0.340530058476	0.35994	0.922998487949	0.98543	D	0.004716	0.04123	T	-0.214302	0.18779	T	-0.545607	0.17750	T	0.106781434900717	0.13087	T	0.729327	0.34443	T	0.11875637	0.27975	0.11318826	0.27315	0.11875637	0.27975	0.11318826	0.27314	-7.079	0.55143	T	.	.	0.172	0.38747	B	.;.;.	.;.;.	4.111247	0.61381	24.3	0.99881864178747093	0.95813	0.17040	0.19662	N	AEFDBCI	0.079203	0.15993	N	-0.758763097892931	0.14396	0.716787	-0.718959199169966	0.16488	0.8725133	2.3947739388967E-5	0.03498	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.72	1.46	0.21769	0.817000	0.26938	7.257000	0.57948	0.563000	0.28513	0.002000	0.15269	1.000000	0.68203	0.975000	0.56047	0.2156:0.0:0.7844:0.0	7.745	0.28032	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	15	chr19	4217889	.	G	A	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=464;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=-1.109;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:4217867_C_A:45,0,491:4217867	18	0	1	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	374.04	10	chr19	7019288	.	G	A	374.04	.	AC=2;AF=0.053;AN=38;DP=190;ExcessHet=0;FS=0;InbreedingCoeff=0.8665;MLEAC=2;MLEAF=0.053;MQ=43.71;QD=35.24;SOR=3.258	GT:AD:DP:GQ:PL	1/1:0,10:10:30:401,30,0	18	1	0	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011299	0.000000	0.000000	0.016667	0.000000	0.000000	0.046875	0.000000	0.02941	287.07	15	chr19	7032755	.	C	T	287.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.21;DP=63;ExcessHet=0;FS=0;InbreedingCoeff=-0.1212;MLEAC=1;MLEAF=0.029;MQ=33.01;MQRankSum=-1.612;QD=19.14;ReadPosRankSum=1.41;SOR=1.473	GT:AD:DP:GQ:PL	0/1:5,10:15:99:298,0,145	16	0	1	2
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	94.97	652	chr19	8888733	.	T	C	94.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.24;DP=7616;ExcessHet=0.119;FS=10.833;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=57.24;MQRankSum=-10.3;QD=0.08;ReadPosRankSum=-4.45;SOR=2.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:606,46:652:99:0|1:8888733_T_C:107,0,25164:8888733	16	0	2	1
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	7310.79	681	chr19	8888745	.	G	A	7310.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.188;DP=8858;ExcessHet=4.0268;FS=2.799;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.125;MQ=56.47;MQRankSum=-12.32;QD=1.68;ReadPosRankSum=0.732;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:604,60:681:99:.:.:619,0,25829:.	12	0	4	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2086.43	696	chr19	8888746	.	T	G	2086.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.145;DP=8818;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.24;MQRankSum=-9.961;QD=0.94;ReadPosRankSum=-3.348;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:636,60:696:99:0|1:8888733_T_C:605,0,26428:8888733	15	0	4	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,99:558:99:0|1:8888803_G_A:2450,0,18070:8888803	13	0	6	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18614.9	519	chr19	8888822	.	GCTTT	*	18614.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.476;DP=9035;ExcessHet=48.2876;FS=8.727;InbreedingCoeff=-1;MLEAC=2;MLEAF=0.053;MQ=57.25;MQRankSum=-10.53;QD=2.45;ReadPosRankSum=0.453;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,116:519:99:0|1:8888803_G_A:3231,0,12950:8888803	17	0	2	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,24:316:99:0|1:8900009_C_T:129,0,12169:8900009	5	0	14	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:183,18:201:99:205,0,7589	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:187,18:205:99:193,0,7682	11	0	8	0
chr19	10514162	10514162	C	T	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.G850A:p.V284I,S1PR5:NM_030760:exon2:c.G850A:p.V284I	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0008	0.00479233	0.0050	0.0003	0.0003	0.0174	0.0389	0.0025	0.0193	0.0020	0.0040491	626	154602	rs150461309	0.0031	0.0031	0.0031	0.0031	0.0335	0.0030	0.0030	0.0320	0.0314	5.978e-05	0.0007	0.0010	0.0335	0.0365	0.0038	0.0008	0.0030	0.0018	0.0048	0.0048	0.0029	0.0068	0.0216	0.0045	0.0044	0.0184	0.0172	0.0002	0	0.0023	0.0003	0.0216	0.0441	0	0.0012	0.0033	0.0029	1.0	0.00964	T	1.0	0.03296	T	0.045	0.21781	B	0.021	0.19346	B	0.089285	0.20435	U	0.440276	0.999994	0.08975	N	-0.415	0.02918	N	1.23	0.36872	T	0.17	0.05125	N	0.078	0.05287	-1.0134	0.25848	T	0.014	0.05608	T	10	0.0031430721	0.00053	T	.	.	.	0.046	0.12618	.	.	0.531531992086	0.52802	0.32803289889116455	0.32716	.	.	0.648723840714	0.59804	T	0.033523	0.22947	T	-0.654708	0.00068	T	-0.700246	0.05813	T	0.00794326790643292	0.00094	T	0.652235	0.26282	T	0.061632678	0.12783	0.03606189	0.02977	0.061632678	0.12782	0.03606189	0.02977	-6.549	0.50663	T	.	.	0.099	0.26232	B	.;.;.	.;.;.	1.992013	0.25307	16.72	0.83038261321540119	0.14509	0.06877	0.12903	N	AEFDBCI	0.080054	0.16180	N	-1.11962483273056	0.06294	0.2893701	-1.04034974972405	0.08909	0.4404267	0.976464743820542	0.29727	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.21	1.84	0.24348	-0.655000	0.05447	3.954000	0.40696	0.465000	0.21702	0.000000	0.06391	0.999000	0.35428	0.947000	0.49155	0.147:0.4824:0.143:0.2276	1.722	0.02738	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	rs150461309	Likely benign	0	0	0	0	0	1	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	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05263	3525.81	120	chr19	10514162	.	C	T	3525.81	.	AC=2;AF=0.053;AN=38;DP=889;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.38;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3553,360,0	18	1	0	0
chr19	10863205	10863205	G	A	exonic	C19orf38	.	nonsynonymous SNV	C19orf38:NM_001136482:exon6:c.G541A:p.A181T	.	.	.	.	.	.	.	.	0	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00258467868461	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs574601210	3.431e-05	3.352e-05	2.398e-05	4.492e-05	0.0014	2.657e-05	2.35e-05	0.0007	0.0005	0	0	0	2.799e-05	2.029e-05	0.0014	8.343e-06	5.173e-05	0.0003	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0004	5.24e-06	2.45e-06	7.307e-05	3.035e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0004	0.535	0.06913	T	0.919	0.02882	T	.	.	.	.	.	.	0.145690	0.02921	N	2.563250	1	0.08975	N	.	.	.	.	.	.	-0.25	0.11008	N	0.079	0.05414	-1.0617	0.11336	T	0.019	0.08033	T	9	0.015024662	0.00315	T	0.002585	0.05206	T	0.023	0.04649	0.123	0.02942	0.0138822411134	0.00435	0.05775924392393729	0.05716	.	.	.	.	.	.	.	.	-0.60436	0.00137	T	-0.779957	0.02454	T	0.00680141619178439	0.00077	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03301	B	.;.	.;.	-0.700457	0.01320	0.072	0.23221334420779902	0.00971	0.00531	0.02459	N	AEFDBHCIJ	0.048211	0.08203	N	-1.79409909006748	0.00560	0.02410745	-1.75137431272525	0.00928	0.04152606	0.999999945376341	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	-1.98	0.07070	-0.120000	0.10633	0.176000	0.15576	-1.710000	0.00744	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3591:0.1596:0.3062:0.1752	0.833	0.01062	538	0.73119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2286.81	73	chr19	10863205	.	G	A	2286.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.33;SOR=0.898	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2314,219,0	18	1	0	0
chr19	11217044	11217044	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon30:c.C3764T:p.A1255V,DOCK6:NM_001367830:exon31:c.C3869T:p.A1290V	Adams-Oliver syndrome 2, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	1891151	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0112355276721	7.9e-05	0.000399361	0.0001	0.0001	0	0.0001	0	0	0	0.0007	0.0001035	16	154602	rs200408941	4.654e-05	4.652e-05	3.677e-05	5.64e-05	0.0004	3.729e-05	3.413e-05	0.0003	0.0002	2.987e-05	0	0	2.519e-05	0	0	2.698e-05	8.283e-05	0.0004	5.908e-05	5.905e-05	8.991e-05	2.685e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0003	9.619e-05	0	0	0	0	0	0	0	0	0.0010	0.677	0.04469	T	0.795	0.04129	T	0.0	0.02946	B	0.001	0.04355	B	0.010075	0.30079	N	0.311931	0.992319	0.24530	N	-0.85	0.01485	N	1.97	0.22067	T	1.22	0.01051	N	0.014	0.00160	-0.9594	0.39293	T	0.018	0.07282	T	10	0.026847184	0.00842	T	0.011236	0.28661	T	0.060	0.17295	.	.	0.236890367714	0.23314	0.21095686573238645	0.21011	0.178572700979	0.20092	0.365219682455	0.20143	T	0.017759	0.14435	T	-0.603395	0.00139	T	-0.743717	0.03736	T	0.0218440388527424	0.00891	T	0.866813	0.56740	D	0.013731073	0.00068	0.029499168	0.01294	0.013731073	0.00068	0.029499168	0.01294	-1.841	0.02634	T	.	.	0.072	0.04080	B	.	.	1.800962	0.22893	15.80	0.85973657275548832	0.16231	0.45594	0.27573	N	AEFBI	0.067467	0.13265	N	-0.662179789578325	0.17106	0.8774574	-0.482150494899776	0.22645	1.231027	4.38106211166696E-4	0.06970	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	1.59	0.22622	3.561000	0.53515	.	.	0.618000	0.50648	1.000000	0.71638	0.065000	0.22112	0.491000	0.28814	0.8573:0.0:0.1427:0.0	8.846	0.34329	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5207.81	175	chr19	11217044	.	G	A	5207.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.02;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=29.76;ReadPosRankSum=0.716;SOR=1.052	GT:AD:DP:GQ:PL	1/1:2,173:175:99:5235,476,0	18	1	0	0
chr19	12688336	12688336	C	A	exonic	GNG14	.	nonsynonymous SNV	GNG14:NM_001316692:exon1:c.C288A:p.N96K	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0110	0	0	0	.	0	0	0.0157	0.0009767	151	154602	rs543075085	0.0020	0.0018	0.0010	0.0029	0.0171	0.0019	0.0019	0.0162	0.0159	0	2.881e-05	0	0	0	0.0002	3.155e-06	0.0008	0.0171	0.0007	0.0007	0.0003	0.0011	0.0199	0.0006	0.0005	0.0167	0.0155	0.0001	0	6.537e-05	0	0.0002	0	0	1.47e-05	0	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009295493	0.00210	T	.	.	.	.	.	.	.	.	.	0.23550279823288983	0.23465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784422	0.42203	T	0.06125722	0.12665	0.18986847	0.42358	0.06125722	0.12665	0.18986847	0.42357	-7.005	0.54070	T	.	.	0.335	0.55555	B	.;.	.;.	3.080394	0.41440	21.4	0.61416675927745568	0.06703	0.93385	0.58075	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00488790317893699	0.10750	0.088506	0.02282	0	0.037452	0.00068	0	0.068591	0.01938	0	0.09929	0.02979	0	0.737763	0.44074	4.79	3.75	0.42236	1.227000	0.32179	.	.	-0.253000	0.07101	1.000000	0.71638	0.998000	0.33993	0.326000	0.25110	0.0:0.8999:0.0:0.1001	9.617	0.38860	721	0.55360	G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3072.81	95	chr19	12688336	.	C	A	3072.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.35;SOR=1.489	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3100,285,0	18	1	0	0
chr19	13926560	13926560	G	A	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon18:c.G1984A:p.V662M	Mental retardation, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0350985892046	.	.	4.151e-05	0	0	0	0	7.514e-05	0	0	3.88e-05	6	154602	rs753360853	5.199e-05	5.199e-05	4.764e-05	5.638e-05	0.0005	4.258e-05	3.888e-05	0.0001	7.541e-05	0	0	3.826e-05	0	1.872e-05	0.0005	5.486e-05	6.623e-05	6.956e-05	5.258e-05	5.254e-05	6.424e-05	4.037e-05	0.0001	2.558e-05	1.831e-05	4.766e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.002	0.79402	D	0.993	0.65571	D	0.714	0.54635	P	0.153541	0.17890	N	0.542395	0.993072	0.41828	D	2.865	0.83145	M	1.1	0.39050	T	-2.68	0.57275	D	0.579	0.60664	-0.6557	0.62465	T	0.191	0.54286	T	10	0.5460745	0.63991	D	0.035099	0.56119	D	0.169	0.43123	0.708	0.84418	0.338592109245	0.33472	0.47948629524552555	0.47868	0.691890328358	0.60625	0.591521859169	0.51708	T	0.491134	0.81563	T	-0.21182	0.19122	T	-0.350359	0.39164	T	0.58845440376541	0.35945	D	0.861114	0.55479	D	0.30796725	0.53610	0.34943536	0.60568	0.30796725	0.53610	0.34943536	0.60568	-10.763	0.78342	D	.	.	0.097	0.19559	B	.;.	.;.	3.693619	0.52643	23.3	0.99879999845505629	0.95653	0.88203	0.48027	D	AEFGBI	0.307956	0.41468	N	0.415428113267867	0.62269	4.440144	0.37992859408563	0.60327	4.219156	0.00470562778885585	0.10680	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.04	4.04	0.46262	1.798000	0.38449	0.986000	0.23159	-0.122000	0.13826	0.977000	0.34929	0.433000	0.24865	0.535000	0.29822	0.0:0.0:1.0:0.0	15.139	0.72277	929	0.16858	C2 domain|C2 domain|Freud, C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4094.81	122	chr19	13926560	.	G	A	4094.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.56;SOR=2.01	GT:AD:DP:GQ:PL	1/1:0,122:122:99:4122,366,0	18	1	0	0
chr19	17215416	17215416	-	GAGGCTGGAGCT	exonic	USE1	.	nonframeshift insertion	USE1:NM_018467:exon1:c.11_12insGAGGCTGGAGCT:p.L8_N9insRLEL	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.011e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs759192337	2.773e-05	2.805e-05	3.092e-05	2.447e-05	3.596e-05	2.076e-05	1.823e-05	2.692e-05	2.363e-05	0	0	0	0	0	0	3.596e-05	0	0	3.945e-05	3.941e-05	6.427e-05	1.346e-05	8.823e-05	1.716e-05	1.13e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1771.77	40	chr19	17215416	.	C	CGAGGCTGGAGCT	1771.77	.	AC=2;AF=0.053;AN=38;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1799,120,0	18	1	0	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,12:40:99:.:.:2068,738,610:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:1,27:40:99:1815,141,0	4	6	8	1
chr19	17337645	17337645	G	T	exonic	GTPBP3	.	nonsynonymous SNV	GTPBP3:NM_001128855:exon1:c.G34T:p.A12S,GTPBP3:NM_032620:exon1:c.G34T:p.A12S,GTPBP3:NM_133644:exon1:c.G34T:p.A12S	Combined oxidative phosphorylation deficiency 23, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	YES	1462628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0123323878387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174497205	1.693e-06	4.788e-06	0	3.544e-06	0.0004	2.8e-07	1.1e-07	7.304e-05	3.034e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.37750	T	0.377	0.18018	T	0.004	0.23376	B	0.002	0.16460	B	0.075383	0.21226	N	0.472153	1	0.81001	D	0.255	0.09829	N	1.54	0.30401	T	0.08	0.06253	N	0.371	0.46835	-1.0543	0.13225	T	0.033	0.14290	T	10	0.10999003	0.20540	T	0.012332	0.30806	T	0.038	0.09825	0.236	0.16608	0.242825505644	0.23883	0.3361604532631334	0.33529	0.268502066531	0.29362	.	.	.	0.033117	0.22780	T	-0.157015	0.27219	T	-0.463318	0.26239	T	0.167503884858882	0.18409	T	0.716728	0.32905	T	0.07258965	0.16160	0.12030508	0.29033	0.07258965	0.16159	0.12030508	0.29032	-5.611	0.42892	T	.	.	0.113	0.22354	B	.;.;.	.;.;.	2.319473	0.29701	18.21	0.98050374907265725	0.37866	0.57796	0.30471	D	AEFGBHCIJ	0.250960	0.37091	N	-0.403211483101943	0.25357	1.375855	-0.245582269537852	0.29924	1.680486	0.999999999915994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.77	2.61	0.30255	1.269000	0.32677	3.070000	0.36196	0.676000	0.76740	0.710000	0.28722	1.000000	0.68203	0.614000	0.31742	0.1031:0.1952:0.7016:0.0	5.983	0.18650	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1697.81	50	chr19	17337645	.	G	T	1697.81	.	AC=2;AF=0.053;AN=38;DP=662;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.96;SOR=1.656	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1725,150,0	18	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	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,22:183:99:0|1:21383168_A_G:428,0,6694:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,21:182:99:0|1:21383168_A_G:397,0,6697:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,20:181:99:0|1:21383168_A_G:355,0,6700:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,19:183:99:0|1:21383168_A_G:304,0,6829:21383168	12	0	6	1
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-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	332.92	169	chr19	21383216	.	A	G	332.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.1;DP=1565;ExcessHet=0.3672;FS=37.063;InbreedingCoeff=-0.1015;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-11.79;QD=0.72;ReadPosRankSum=0.612;SOR=5.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,13:169:76:0|1:21383168_A_G:76,0,6511:21383168	15	0	3	1
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-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	152.97	171	chr19	21383222	.	C	A	152.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=3.2;DP=1552;ExcessHet=0.3672;FS=31.329;InbreedingCoeff=-0.1029;MLEAC=3;MLEAF=0.083;MQ=58.96;MQRankSum=-11.74;QD=0.33;ReadPosRankSum=-0.962;SOR=4.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,12:171:25:0|1:21383168_A_G:25,0,6640:21383168	15	0	3	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,76:76:99:.:.:3416,235,0:.	13	1	5	0
chr19	22758164	22758164	C	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1745A:p.R582K	.	431	1042	45	4	0	53	0.0248011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0036	0.00439297	0.0062	0.0005	0.0029	0	0.0021	0.0052	0.0078	0.0209	0.0056338	871	154602	rs140912526	0.0051	0.0051	0.0045	0.0058	0.0193	0.0050	0.0050	0.0185	0.0182	0.0004	0.0027	0.0169	5.044e-05	0.0022	0.0151	0.0043	0.0053	0.0193	0.0037	0.0036	0.0037	0.0037	0.0182	0.0034	0.0033	0.0150	0.0139	0.0008	0.0364	0.0027	0.0199	0.0002	0.0022	0.0041	0.0039	0.0055	0.0182	0.955	0.02121	T	0.993	0.02654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.22	0.07024	T	-0.07	0.08033	N	0.03	0.01068	-0.9262	0.44688	T	0.007	0.02439	T	9	0.005250722	0.00115	T	.	.	.	0.002	0.00045	.	.	0.0138822411134	0.00435	0.007568381517586175	0.00722	0.0159797266586	0.01529	0.28009980917	0.07507	T	0.021037	0.16455	T	-0.762319	0.00015	T	-0.852199	0.00932	T	0.00720244600762452	0.00082	T	0.0149985	0.00227	T	0.022412388	0.00902	0.05367581	0.09086	0.022412388	0.00902	0.05367581	0.09086	-8.026	0.61247	D	.	.	0.163	0.35890	B	.;.	.;.	-2.056959	0.00089	0.002	0.31885215178464144	0.01820	0.00103	0.00666	N	AEFBI	0.027479	0.02252	N	-1.95929560019984	0.00258	0.01108298	-2.06489624426433	0.00222	0.009788571	7.52781200786819E-4	0.07758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.88	0.05342	-4.971000	0.00192	.	.	-3.450000	0.00084	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1746:0.4123:0.1367:0.2764	1.478	0.02284	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013256	0.005051	0.013587	0.008264	0.000000	0.000000	0.018519	0.015152	0.05263	5712.81	167	chr19	22758164	.	C	T	5712.81	.	AC=2;AF=0.053;AN=38;DP=1476;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.47;QD=34.21;SOR=0.779	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5740,501,0	18	1	0	0
chr19	34404971	34404971	G	C	exonic	PDCD2L	.	nonsynonymous SNV	PDCD2L:NM_001353433:exon3:c.G317C:p.R106T,PDCD2L:NM_032346:exon3:c.G317C:p.R106T	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00169668906844	7.7e-05	.	2.491e-05	0	0	0	0	4.535e-05	0	0	1.94e-05	3	154602	rs375361877	4.994e-05	4.994e-05	6.126e-05	3.85e-05	0.0002	4.059e-05	3.734e-05	4.786e-05	4.365e-05	0	6.708e-05	0	0	0	0.0002	5.935e-05	4.967e-05	0	2.628e-05	2.626e-05	2.569e-05	2.689e-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	0.252	0.17014	T	0.409	0.14588	T	0.0	0.02946	B	0.001	0.04355	B	0.974268	0.07799	N	1.010340	1	0.08975	N	-1.245	0.00777	N	.	.	.	-0.17	0.09627	N	0.168	0.17828	-0.9869	0.33371	T	0.032	0.13898	T	9	0.02948898	0.01075	T	0.001697	0.02830	T	0.015	0.02232	.	.	0.0762999501168	0.06990	0.2488217158637332	0.24796	0.154127611139	0.17397	0.28366997838	0.08009	T	0.008397	0.07715	T	-0.49635	0.00599	T	-0.753106	0.03367	T	0.0477902963757515	0.05106	T	0.49605	0.15399	T	0.05158268	0.09493	0.058108505	0.10681	0.05158268	0.09492	0.058108505	0.10681	-3.211	0.12615	T	.	.	0.061	0.02173	B	.;.	.;.	0.427897	0.07985	4.698	0.73108108563569674	0.10209	0.04607	0.10264	N	AEFDGBCI	0.068959	0.13627	N	-1.29324881584234	0.03756	0.1683448	-1.18293733283056	0.06194	0.297404	0.999999957110464	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.29	3.17	0.35510	0.063000	0.14285	-0.304000	0.10092	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.448000	0.27851	0.7534:0.1611:0.0854:0.0	6.199	0.19777	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1394.81	52	chr19	34404971	.	G	C	1394.81	.	AC=2;AF=0.053;AN=38;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=26.82;SOR=0.853	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1422,154,0	18	1	0	0
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81:81:99:.:.:3652,264,0:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81:81:99:.:.:3652,264,0:.	13	2	4	0
chr19	35668637	35668637	C	T	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.C268T:p.R90W,UPK1A:NM_007000:exon3:c.C268T:p.R90W	.	416	1098	7	1	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.110512869742	7.7e-05	0.00139776	0.0011	0.0003	0.0001	0	0	8.484e-05	0	0.0071	0.0007956	123	154602	rs368559520	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0050	0.0049	0.0002	2.243e-05	0	0	0	0.0017	5.397e-05	0.0004	0.0054	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0046	0.0003	0	6.559e-05	0	0	0	0	2.941e-05	0	0.0071	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	0.999735	0.48635	D	1.385	0.34509	L	-1.39	0.80387	T	-4.46	0.82341	D	0.743	0.74553	0.306	0.87652	D	0.617	0.86477	D	10	0.05425027	0.05747	T	0.110513	0.78793	D	0.808	0.93777	.	.	0.582891127894	0.57961	0.8854098038142626	0.88509	0.770705930777	0.64745	0.513011574745	0.40643	T	0.459035	0.79678	T	0.000505471	0.51724	T	0.230007	0.84671	D	0.150541850771554	0.17146	T	0.90091	0.66280	D	0.7080513	0.78500	0.7293203	0.84007	0.7080513	0.78502	0.7293203	0.84008	-8.489	0.64357	D	.	.	0.432	0.61290	A	.;.;.;.	.;.;.;.	4.309455	0.65871	24.9	0.9989464833657733	0.96819	0.93542	0.58501	D	AEFDBI	0.488743	0.52694	N	0.448338967531989	0.64109	4.658205	0.386972193398403	0.60762	4.267418	0.116050146663118	0.16769	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	4.27	0.50009	1.314000	0.33202	2.576000	0.33390	0.598000	0.34611	0.950000	0.33075	0.990000	0.31317	0.259000	0.23493	0.1606:0.8394:0.0:0.0	13.209	0.59240	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.07895	3867.77	86	chr19	35668637	.	C	T	3867.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.28;DP=773;ExcessHet=0;FS=1.753;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=-2.353;SOR=0.534	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2799,258,0	17	1	1	0
chr19	37613144	37613144	C	T	exonic	ZNF540	.	nonsynonymous SNV	ZNF540:NM_001172226:exon4:c.C1768T:p.L590F,ZNF540:NM_001172225:exon5:c.C1864T:p.L622F,ZNF540:NM_152606:exon5:c.C1864T:p.L622F	.	418	1102	1	1	0	3	0.00135931	.	.	.	4103589	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.00716691620139	.	.	6.657e-05	0	0	0	0	1.512e-05	0	0.0004	5.17e-05	8	154602	rs771756082	4.652e-05	4.652e-05	1.77e-05	7.564e-05	0.0007	3.728e-05	3.412e-05	0.0006	0.0005	0	0	0	0	0	0.0002	0	8.28e-05	0.0007	4.601e-05	4.597e-05	1.285e-05	8.074e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0010	0.021	0.49117	D	0.016	0.60972	D	0.139	0.27501	B	0.102	0.30857	B	.	.	.	.	1	0.08975	N	2.325	0.66631	M	0.68	0.51952	T	-2.73	0.58085	D	0.099	0.28028	-0.9440	0.41976	T	0.126	0.43112	T	9	0.08100256	0.13212	T	0.007167	0.19006	T	0.058	0.16647	0.664	0.80199	0.508637063495	0.50502	0.025075359920445284	0.02458	0.380387232299	0.39407	0.266942441463	0.05745	T	0.186598	0.53994	T	-0.411016	0.01957	T	-0.464009	0.26165	T	0.209836381908513	0.20945	T	0.784922	0.42251	T	0.13804428	0.31941	0.12448446	0.30006	0.13804428	0.31940	0.12448446	0.30005	-6.652	0.52908	T	.	.	0.423	0.65221	A	.;.;.;.	.;.;.;.	2.068659	0.26303	17.07	0.99749356396424149	0.84152	0.03540	0.08735	N	AEFGBCI	.	.	.	-0.754294703104188	0.14516	0.7237803	-0.851084941303212	0.13262	0.6869855	6.17821089713308E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.8	0.395	0.15527	-0.611000	0.05718	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.247000	0.23184	0.0:0.7648:0.0:0.2352	7.674	0.27642	658	0.62094	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	2212.81	69	chr19	37613144	.	C	T	2212.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.07;SOR=0.781	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2240,207,0	18	1	0	0
chr19	39877853	39877860	AGATGAAA	-	exonic	FCGBP	.	frameshift deletion	FCGBP:NM_003890:exon21:c.9245_9252del:p.L3082Rfs*16	.	471	1043	7	1	0	9	0.00429594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0152	0.0097	0.0163	0.0060	0.0176	0.0155	0.0161	0.0205	.	.	.	rs779214005	2.721e-05	0.0013	1.741e-05	3.717e-05	0.0001	1.95e-05	1.699e-05	4.935e-05	3.629e-05	0	0.0001	0	0	6.429e-05	0	1.802e-05	2.389e-05	0.0001	5.593e-05	0.0012	4.107e-05	7.143e-05	0.0001	2.701e-05	1.934e-05	2.419e-05	9.66e-06	2.459e-05	0.0012	0.0001	0	0	0.0001	0	4.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	304.9	6	chr19	39877852	.	CAGATGAAA	C	304.9	.	AC=3;AF=0.079;AN=38;DP=2501;ExcessHet=0;FS=5.229;InbreedingCoeff=0.6326;MLEAC=3;MLEAF=0.079;MQ=38.27;MQRankSum=-0.319;QD=30.49;SOR=1.996	GT:AD:DP:GQ:PL	1/1:0,6:6:18:236,18,0	17	1	1	0
chr19	39877858	39877858	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	109802.0	6	chr19	39877858	.	A	*	109802.0	.	AC=3;AF=0.079;AN=38;DP=2584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.91;QD=29.39;SOR=0.252	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,6:6:18:.:.:236,18,0:.	17	1	1	0
chr19	39877859	39877859	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	108823.0	6	chr19	39877859	.	A	*	108823.0	.	AC=3;AF=0.079;AN=38;DP=2581;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.73;QD=27.81;SOR=0.245	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,6:6:18:.:.:236,18,0:.	17	1	1	0
chr19	43353716	43353716	T	G	exonic	CD177	.	startloss	CD177:NM_020406:exon1:c.T2G:p.M1?	.	412	1109	0	1	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0329492319213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.984e-05	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.889	0.89242	-1.0347	0.18951	T	0.100	0.37290	T	8	0.9646919	0.95930	D	0.032949	0.54634	D	.	.	0.77	0.89688	0.143124449307	0.13826	0.774479783336459	0.77397	.	.	.	.	.	0.270603	0.64288	T	0.409935	0.90478	D	0.351067	0.90360	D	0.451413989067078	0.30849	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.362101	0.30299	18.39	0.9269701546028567	0.22187	0.62011	0.31653	D	AEFDBI	0.018699	0.00588	N	0.22319028658856	0.52324	3.407341	0.0918361693819364	0.44137	2.701325	0.28332371534582	0.19010	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.564101	0.26826	0	.	.	3.42	3.42	0.38259	1.381000	0.33969	.	.	0.660000	0.55035	0.996000	0.39380	1.000000	0.68203	0.096000	0.18090	0.0:0.0:0.0:1.0	8.547	0.32587	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2144.81	61	chr19	43353716	.	T	G	2144.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.24;SOR=2.76	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2172,183,0	18	1	0	0
chr19	44865412	44865412	C	T	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_001042724:exon2:c.C230T:p.A77V,NECTIN2:NM_002856:exon2:c.C230T:p.A77V	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.01943222986	7.7e-05	.	0.0001	0	0.0004	0	0	0.0001	0	0	0.00011	17	154602	rs111808500	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	8.961e-05	0.0005	0	0	0	0.0002	0.0002	0.0003	6.956e-05	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	9.652e-05	0	0.0005	0	0	0	0	0.0003	0.0010	0.0002	0.333	0.19430	T	0.232	0.24987	T	0.096	0.25489	B	0.013	0.17295	B	0.262576	0.03719	N	1.585450	1	0.08975	N	.	.	.	-0.2	0.66113	T	-1.73	0.41046	N	0.062	0.03392	-1.0810	0.07156	T	0.083	0.32700	T	10	0.04402581	0.03316	T	0.019432	0.41790	T	0.124	0.34239	.	.	0.358880540497	0.35496	0.4784578468497368	0.47765	0.391724164423	0.40370	0.283132612705	0.07933	T	0.185899	0.53902	T	-0.506333	0.00527	T	-0.630939	0.10343	T	0.0281611378101316	0.01712	T	0.439856	0.12136	T	0.08428301	0.19500	0.093983546	0.22225	0.08428301	0.19500	0.093983546	0.22224	-4.704	0.33453	T	.	.	0.086	0.10545	B	.;.	.;.	-0.499673	0.01867	0.152	0.88326500274217468	0.17890	0.01889	0.05802	N	AEFBI	0.092032	0.18636	N	-1.67420402071542	0.00937	0.0405921	-1.738401244536	0.00978	0.04379918	0.00627609187380213	0.11174	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.33	-5.77	0.02176	0.037000	0.13728	.	.	-4.599000	0.00025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2868:0.2892:0.1884:0.2357	0.333	0.00299	825	0.40060	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4321.81	141	chr19	44865412	.	C	T	4321.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.65;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4349,422,0	18	1	0	0
chr19	47839575	47839575	C	T	exonic	CRX	.	nonsynonymous SNV	CRX:NM_000554:exon4:c.C508T:p.P170S	Cone-rod retinal dystrophy-2, Autosomal dominant;Leber congenital amaurosis 7	0	1515	7	0	0	7	0.00230491	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.567625512122	.	.	0.0001	0	0	0	0	3.05e-05	0	0.0009	0.00011	17	154602	rs769984810	6.3e-05	6.293e-05	4.359e-05	8.261e-05	0.0007	5.233e-05	4.85e-05	0.0006	0.0005	0	0	0	0	0	0.0007	1.98e-05	8.291e-05	0.0007	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.055	0.38407	T	0.049	0.48336	D	0.951	0.53992	P	0.684	0.53582	P	0.000002	0.62929	N	0.060226	0.975156	0.81001	D	2.575	0.75298	M	-3.6	0.95009	D	-3.89	0.72820	D	0.194	0.25253	0.790	0.94282	D	0.837	0.94560	D	10	0.4841619	0.60608	T	0.567626	0.96078	D	0.690	0.88726	0.598	0.72862	0.886356727638	0.88523	0.7425358996408872	0.74199	0.675188037185	0.59693	0.81745582819	0.84638	D	0.786228	0.94402	D	-0.132718	0.31056	T	-0.0561528	0.66600	D	0.745528876781464	0.43038	D	0.910509	0.68253	D	0.2376331	0.46629	0.29441303	0.55472	0.2376331	0.46629	0.29441303	0.55471	-3.564	0.17338	T	0.14880573707648642	0.17353	0.096	0.15296	B	.;.	.;.	3.856314	0.55900	23.7	0.9988391209709887	0.95970	0.84094	0.43179	D	AEFDBI	0.528662	0.55010	D	0.330292681886558	0.57710	3.939355	0.229521263401756	0.51494	3.331305	0.949743023733304	0.27861	0.487112	0.14033	0	0.573888	0.26702	0	0.654281	0.52657	0	0.564101	0.26826	0	.	.	3.93	2.82	0.32061	2.210000	0.42455	5.615000	0.49067	0.537000	0.25018	0.951000	0.33123	1.000000	0.68203	0.893000	0.43066	0.0:0.815:0.185:0.0	11.300	0.48534	912	0.21483	Transcription factor Otx, C-terminal;Transcription factor Otx, 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	.	.	.	.	.	.	.	.	0.05263	3656.81	111	chr19	47839575	.	C	T	3656.81	.	AC=2;AF=0.053;AN=38;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.94;SOR=0.995	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3684,332,0	18	1	0	0
chr19	49960927	49960927	T	C	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon2:c.A85G:p.N29D,SIGLEC11:NM_052884:exon2:c.A85G:p.N29D	.	442	1053	27	0	0	27	0.0126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0003	.	0.0662	0.0095	0.0208	0.1856	0.0231	0.0056	0.0786	0.1464	3.84e-05	1	26028	rs200296439	0.0042	0.0083	0.0032	0.0053	0.0470	0.0041	0.0041	0.0457	0.0452	0.0040	0.0007	0.0011	0.0305	0.0018	0.0036	0.0004	0.0084	0.0470	0.0023	0.0046	0.0018	0.0028	0.0256	0.0021	0.0020	0.0216	0.0201	0.0030	0	0.0006	0.0009	0.0184	0.0007	0	0.0001	0	0.0256	0.571	0.06164	T	0.465	0.12421	T	0.331	0.45487	B	0.059	0.43610	B	0.095258	0.02495	N	1.936730	1	0.08975	N	0.345	0.11182	N	0.64	0.53088	T	-0.39	0.13611	N	0.067	0.10769	-1.0249	0.22116	T	0.034	0.14552	T	10	0.002983749	0.00049	T	.	.	.	0.032	0.07718	.	.	.	.	0.209645105844584	0.20880	1.58830836567	0.88484	0.354236632586	0.18544	T	0.001429	0.00891	T	-0.349013	0.04789	T	-0.73911	0.03929	T	0.0188154434886379	0.00592	T	0.385961	0.09480	T	0.037533235	0.04831	0.0443495	0.05725	0.037533235	0.04830	0.0443495	0.05725	-1.703	0.02370	T	.	.	0.141	0.31783	B	.;.	.;.	0.645171	0.10137	6.880	0.44129638138846117	0.03371	0.00313	0.01653	N	AEFDGI	0.030872	0.03188	N	-1.3398583203919	0.03231	0.1439835	-1.54079620489919	0.02040	0.09324497	0.0738438980302888	0.15647	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	2.39	-4.77	0.02985	-0.037000	0.12116	-20.000000	0.00162	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3888:0.2039:0.4074	6.061	0.19064	681	0.59854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011008	0.000000	0.001385	0.017241	0.000000	0.000000	0.003546	0.040650	0.02632	1475.33	124	chr19	49960927	.	T	C	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.172;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.01;MQRankSum=-2.551;QD=11.9;ReadPosRankSum=-0.003;SOR=0.597	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1489,0,1750	18	0	1	0
chr19	50401786	50401786	C	G	exonic	POLD1	.	nonsynonymous SNV	POLD1:NM_001308632:exon3:c.C325G:p.Q109E,POLD1:NM_001256849:exon4:c.C325G:p.Q109E,POLD1:NM_002691:exon4:c.C325G:p.Q109E	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant	394	1127	1	0	0	1	0.000443459	.	.	.	575024	Mandibular_hypoplasia-deafness-progeroid_syndrome|Immunodeficiency_120|Colorectal_cancer,_susceptibility_to,_10|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649|MONDO:MONDO:0970994,MedGen:C5935622,OMIM:620836|MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.00752956566928	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334973313	6.849e-06	6.84e-06	2.726e-06	1.101e-05	0.0002	3.46e-06	2.53e-06	3.766e-05	2.662e-05	0	0	0	0	0	0.0002	1.799e-06	0	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.906	0.02389	T	0.985	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.316035	0.04044	N	1.579440	1	0.08975	N	-0.345	0.03330	N	1.98	0.21865	T	0.12	0.05604	N	0.042	0.01498	-1.0019	0.29372	T	0.022	0.09513	T	10	0.030182868	0.01145	T	0.00753	0.19979	T	0.020	0.03691	0.205	0.12076	0.276482976112	0.27267	0.22109416487393044	0.22024	0.204660752202	0.22886	0.329291522503	0.14826	T	0.126352	0.45267	T	-0.431072	0.01460	T	-0.653381	0.08718	T	0.019820396986193	0.00684	T	0.711729	0.32279	T	0.05119302	0.09364	0.037501384	0.03416	0.05119302	0.09363	0.037501384	0.03416	-4.557	0.31627	T	.	.	0.088	0.11606	B	.;.;.;.;.	.;.;.;.;.	0.026342	0.04469	1.185	0.68772820414857105	0.08762	0.08130	0.14097	N	AEFDBHCI	0.060527	0.11509	N	-1.311968073188	0.03537	0.158176	-1.29906438875342	0.04443	0.2096168	0.00387273744073212	0.10318	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.85	0.233	0.14656	0.293000	0.18785	0.381000	0.17781	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.0:0.5191:0.2244:0.2565	3.289	0.06533	749	0.51929	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	3340.81	106	chr19	50401786	.	C	G	3340.81	.	AC=2;AF=0.053;AN=38;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.893	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3368,318,0	18	1	0	0
chr19	51890739	51890739	G	A	exonic	ZNF649	.	nonsynonymous SNV	ZNF649:NM_023074:exon5:c.C1397T:p.P466L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00328313446691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999999	0.08975	N	0.785	0.19527	N	3.38	0.05918	T	-4.42	0.77470	D	0.061	0.07535	-1.0347	0.18951	T	0.029	0.12541	T	9	0.16709301	0.31183	T	0.003283	0.07268	T	0.035	0.08770	0.258	0.20002	0.23798241625	0.23396	0.04017163611429551	0.03963	0.194306989748	0.21767	0.228492349386	0.01859	T	0.052425	0.33341	T	-0.256318	0.13334	T	-0.60596	0.12315	T	0.412366962208315	0.29406	T	0.270873	0.04565	T	0.088271886	0.20586	0.12097957	0.29193	0.088271886	0.20586	0.12097957	0.29192	-3.056	0.10798	T	.	.	0.085	0.10256	B	.;.	.;.	1.395416	0.18086	13.54	0.88144339166060603	0.17749	0.00016	0.00195	N	AEFBCI	0.042588	0.06627	N	-0.333324040246619	0.27890	1.533817	-0.581644662564672	0.19971	1.073958	6.55146326171207E-4	0.07551	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.03	2.03	0.25714	-0.352000	0.07750	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.3426:0.0:0.6574:0.0	4.003	0.09076	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	258	chr19	51890739	.	G	A	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=885;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.193;SOR=0.812	GT:AD:DP:GQ:PL	0/1:157,101:258:99:2317,0,4157	18	0	1	0
chr19	52157309	52157309	C	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G374A:p.G125D	.	458	1063	1	0	0	1	0.000470146	.	.	.	3358408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.000750878151022	.	.	0.0001	0	0	0	0	0	0.0012	0.0009	0.0001035	16	154602	rs757305341	6.405e-05	6.567e-05	3.97e-05	8.87e-05	0.0010	5.33e-05	4.944e-05	0.0008	0.0008	0	0	0	0	0	0	3.611e-06	6.672e-05	0.0010	3.941e-05	3.938e-05	3.856e-05	4.03e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	0	0.0005	0.0008	1.0	0.00964	T	0.792	0.04737	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	3.4	0.05642	T	2.66	0.00198	N	0.117	0.10626	-0.9052	0.47424	T	0.005	0.01833	T	9	0.013304234	0.00283	T	7.51E-4	0.00529	T	0.010	0.01040	0.249	0.18602	0.0297737177859	0.01360	0.02076515007273998	0.02029	0.240595438909	0.26601	0.238093167543	0.02621	T	0.002216	0.01614	T	-0.691425	0.00041	T	-0.822309	0.01406	T	0.0180319056715601	0.00527	T	0.0768923	0.00566	T	0.03334872	0.03535	0.06520972	0.13185	0.03334872	0.03535	0.06520972	0.13184	-2.507	0.05829	T	.	.	0.071	0.06479	B	.;.	.;.	-0.425290	0.02119	0.201	0.10298443916016528	0.00126	0.00208	0.01187	N	AEFBI	0.026613	0.02029	N	-1.61869586045018	0.01174	0.05103155	-1.62286297079353	0.01522	0.06892931	3.2179968883664E-4	0.06540	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	2.34	-1.22	0.09005	-1.318000	0.02813	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5472:0.0:0.4528	5.740	0.17360	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	89	chr19	52157309	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.291;DP=967;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.462;SOR=0.582	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1173,0,1299	18	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC:p.K415_R577delinsS	.	0	147	6	0	73	79	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0066	0.0030	0.0040	0.0144	0.0034	0.0034	0.0137	0.0134	0.0042	0.0058	0.0055	0.0048	0.0038	0.0036	0.0024	0.0048	0.0144	0.0019	0.0029	0.0019	0.0018	0.0024	0.0017	0.0016	0.0018	0.0017	0.0017	0	0.0024	0.0031	0.0010	0.0011	0	0.0021	0.0005	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	3948.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,13:103:99:1|0:52384795_G_A:274,0,3742:52384795	17	0	2	0
chr19	52706746	52706747	GA	-	exonic	ZNF611	.	frameshift deletion	ZNF611:NM_001161500:exon5:c.308_309del:p.F103Sfs*4,ZNF611:NM_001161501:exon5:c.101_102del:p.F34Sfs*4,ZNF611:NM_001161499:exon6:c.308_309del:p.F103Sfs*4,ZNF611:NM_030972:exon7:c.308_309del:p.F103Sfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9027.29	496	chr19	52706745	.	GGA	G	9027.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.319;DP=1349;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=-0.069;QD=18.2;ReadPosRankSum=1.12;SOR=0.789	GT:AD:DP:GQ:PL	0/1:261,235:496:99:9041,0,10204	18	0	1	0
chr19	52800731	52800731	G	A	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.C955T:p.R319C,ZNF28:NM_001369763:exon4:c.C1105T:p.R369C,ZNF28:NM_001369764:exon4:c.C1072T:p.R358C,ZNF28:NM_006969:exon4:c.C1114T:p.R372C,ZNF28:NM_001369765:exon5:c.C1006T:p.R336C	.	421	1099	2	0	0	2	0.000909091	.	.	.	3927134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.000660766135765	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1050390526	1.3e-05	1.3e-05	1.225e-05	1.375e-05	2.52e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	2.52e-05	0	0	1.529e-05	1.656e-05	0	1.325e-05	1.318e-05	1.293e-05	1.358e-05	6.614e-05	2.2e-06	8.2e-07	.	.	0	0	6.614e-05	0	0	0	0	1.475e-05	0	0	0.09	0.31987	T	0.209	0.40110	T	0.107	0.26081	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.69	0.43327	L	1.72	0.26588	T	0.75	0.08187	N	0.049	0.02088	-1.0310	0.20131	T	0.046	0.19720	T	9	0.24407634	0.41633	T	6.61E-4	0.00367	T	0.028	0.06331	0.626	0.76141	0.0482279557977	0.04254	0.027377945737882735	0.02687	0.0350266428864	0.03692	0.292452454567	0.09280	T	0.043201	0.26427	T	-0.325566	0.06452	T	-0.70543	0.05534	T	0.0499728373429935	0.05495	T	0.673133	0.28166	T	0.030614972	0.02756	0.026189951	0.00695	0.030614972	0.02755	0.026189951	0.00695	-5.899	0.45427	T	.	.	0.295	0.56625	B	.;.;.	.;.;.	0.226740	0.06082	2.528	0.5416726588233719	0.05084	0.00320	0.01682	N	AEFBHCI	0.043077	0.06765	N	-1.81125676697989	0.00518	0.02230618	-2.01458063398579	0.00285	0.01259238	0.100787809511197	0.16362	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.58	-3.15	0.04912	-10.852000	0.00007	.	.	-3.809000	0.00058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2148:0.2955:0.3124:0.1773	0.975	0.01335	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2290.33	175	chr19	52800731	.	G	A	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1925;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.96;SOR=0.547	GT:AD:DP:GQ:PL	0/1:87,88:175:99:2304,0,2151	18	0	1	0
chr19	53942340	53942340	-	G	exonic	CACNG7	.	frameshift insertion	CACNG7:NM_001384801:exon5:c.730dupG:p.S246Vfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	0.0023	0.0216	0.0015	0	0	0.0003	0.0025	0.0006	0.0003074	8	26028	rs376023795	0.0009	0.0009	0.0010	0.0008	0.0210	0.0008	0.0008	0.0197	0.0192	0.0210	0.0018	0.0020	0	2.486e-05	0.0031	0.0002	0.0024	0.0008	0.0066	0.0066	0.0066	0.0065	0.0219	0.0062	0.0061	0.0207	0.0202	0.0219	0	0.0036	0.0014	0.0002	0	0	0.0002	0.0048	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	33452.9	93	chr19	53942340	.	A	AG	33452.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.394;DP=1514;ExcessHet=2.0135;FS=1.847;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=25.44;ReadPosRankSum=0.224;SOR=0.952	GT:AD:DP:GQ:PL	0/1:1,37:93:99:2585,1718,2016	17	0	2	0
chr19	54070046	54070046	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon5:c.G773A:p.R258Q,TARM1:NM_001330650:exon5:c.G797A:p.R266Q	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00103972786388	.	0.00199681	0.0048	0.0023	0.0024	0	0	0.0066	0.0053	0.0039	0.001837	284	154602	rs139802953	0.0081	0.0077	0.0082	0.0079	0.0094	0.0079	0.0079	0.0093	0.0092	0.0015	0.0045	0.0011	0.0004	0.0040	0.0039	0.0094	0.0057	0.0037	0.0058	0.0058	0.0060	0.0056	0.0092	0.0055	0.0054	0.0086	0.0084	0.0013	0.0736	0.0045	0.0012	0.0002	0.0039	0	0.0092	0.0052	0.0027	0.921	0.02304	T	0.924	0.04260	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.04	0.00452	T	0.84	0.01761	N	0.064	0.03613	-0.9962	0.30974	T	0.000	0.00152	T	9	0.004252404	0.00085	T	0.00104	0.01167	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.1387978294536152	0.13802	.	.	0.213987320662	0.00992	T	.	.	.	-0.796873	0.00008	T	-0.907041	0.00454	T	0.000552514955551362	0.00005	T	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	0.167827	0.05572	2.030	0.64281830739256551	0.07450	0.00068	0.00484	N	AEFBI	0.016168	0.00348	N	-1.78442606066497	0.00584	0.02517918	-1.78436488658201	0.00810	0.03617845	2.65047079220499E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	-1.7	0.07721	-0.279000	0.08512	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.3459:0.2019:0.4522	3.793	0.08246	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	167	chr19	54070046	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=804;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.13;SOR=0.861	GT:AD:DP:GQ:PL	0/1:81,86:167:99:2233,0,1850	18	0	1	0
chr19	54074165	54074165	G	A	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon4:c.C413T:p.A138V,TARM1:NM_001330650:exon4:c.C437T:p.A146V	.	415	1104	3	0	0	3	0.00135685	.	.	.	3327922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00333486775988	.	.	5.044e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs767890393	9.79e-05	9.371e-05	9.165e-05	0.0001	0.0002	8.453e-05	7.922e-05	9.576e-05	8.965e-05	0	2.801e-05	0	0	0	0.0002	0.0001	0.0001	0.0001	9.193e-05	9.187e-05	0.0001	8.057e-05	0.0002	5.524e-05	4.362e-05	0.0001	7.894e-05	2.406e-05	0	6.543e-05	0	0	0	0	0.0002	0	0	0.113	0.28772	T	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-2.18	0.49187	N	0.066	0.03841	-1.0667	0.10154	T	0.068	0.27947	T	9	0.27722928	0.45289	T	0.003335	0.07421	T	0.071	0.20720	0.375	0.38830	0.0401082797425	0.02173	0.15271693007947293	0.15193	.	.	0.240844935179	0.02867	T	.	.	.	-0.549729	0.00293	T	-0.779115	0.02480	T	0.386926829814911	0.28448	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31456	B	.;.	.;.	0.010319	0.04355	1.114	0.99473424136500121	0.66472	0.02745	0.07425	N	AEFDBI	0.034078	0.04159	N	-0.421468913752917	0.24717	1.33665	-0.764725639681333	0.15361	0.8074976	1.61352240503817E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	4.01	-4.57	0.03178	-0.315000	0.08122	.	.	-0.124000	0.13482	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.1754:0.0:0.2695:0.5552	5.237	0.14771	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2140.33	164	chr19	54074165	.	G	A	2140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=788;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.99;SOR=0.48	GT:AD:DP:GQ:PL	0/1:77,87:164:99:2154,0,1957	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:368,85:453:99:1059,0,10225	8	0	11	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:217,87:304:99:1499,0,6326	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:307,89:396:99:2710,0,8400	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:325,85:410:99:.:.:2591,0,13295:.	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,57:408:99:0|1:54752482_T_C:1337,0,14519:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,30:373:99:0|1:54752511_G_A:227,0,14196:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,30:409:99:0|1:54760643_A_G:119,0,15657:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,37:427:99:0|1:54760643_A_G:380,0,16224:54760643	10	0	9	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	2922.43	425	chr19	54760659	.	G	A	2922.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.983;DP=3060;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=53.4;MQRankSum=-4.823;QD=2.4;ReadPosRankSum=0.781;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:385,40:425:99:0|1:54760643_A_G:521,0,16046:54760643	15	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,40:417:99:0|1:54760643_A_G:545,0,15710:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,40:404:99:0|1:54760643_A_G:584,0,15164:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,40:392:99:0|1:54760643_A_G:620,0,14607:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,40:386:99:0|1:54760643_A_G:638,0,14355:54760643	10	0	9	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,28:409:29:0|1:54775425_A_G:29,0,15914:54775425	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:385,28:413:17:0|1:54775425_A_G:17,0,16031:54775425	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,28:412:20:0|1:54775425_A_G:20,0,15980:54775425	12	0	7	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,28:319:99:0|1:54804956_C_G:300,0,12090:54804956	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,29:321:99:0|1:54804956_C_G:339,0,12145:54804956	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,26:308:99:0|1:54804968_T_G:243,0,11728:54804968	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,26:307:99:0|1:54804968_T_G:246,0,11686:54804968	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,44:336:99:0|1:54805010_A_G:965,0,12108:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,43:338:99:0|1:54805010_A_G:918,0,12237:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,45:342:99:0|1:54805010_A_G:996,0,12244:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,48:336:99:0|1:54805010_A_G:1088,0,11792:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:231,51:282:99:.:.:648,0,6368:.	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,35:285:99:0|1:54805940_TCTC_T:717,0,10392:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,40:292:99:0|1:54805940_TCTC_T:921,0,10461:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,54:343:99:0|1:54805940_TCTC_T:1398,0,11962:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,60:367:99:0|1:54805940_TCTC_T:1569,0,12599:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,81:464:99:0|1:54806034_C_A:2239,0,15778:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,81:465:99:0|1:54806034_C_A:2236,0,15820:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:405,75:480:99:0|1:54806034_C_A:1930,0,16780:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:427,66:493:99:0|1:54806034_C_A:1486,0,17731:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,67:486:99:0|1:54806034_C_A:1552,0,17392:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:429,64:493:99:0|1:54806034_C_A:1396,0,17821:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,62:476:99:0|1:54806034_C_A:1357,0,17197:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,60:479:99:0|1:54806034_C_A:1258,0,17413:54806034	13	0	6	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,70:431:99:0|1:54808838_C_T:1853,0,14896:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,74:454:99:0|1:54808838_C_T:1963,0,15704:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,72:451:99:0|1:54808838_C_T:1882,0,15668:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:368,68:436:99:1753,0,9635	10	0	9	0
chr19	54819841	54819841	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon2:c.A163G:p.K55E,KIR3DS1:NM_001282170:exon3:c.A199G:p.K67E,KIR3DS1:NM_001083539:exon4:c.A484G:p.K162E,KIR3DL1:NM_001322168:exon4:c.A484G:p.K162E,LOC112268355:NM_001368254:exon4:c.A484G:p.K162E,KIR3DL1:NM_013289:exon4:c.A484G:p.K162E	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0079	0.00758786	0.0039	0.0240	0.0051	0	0	0.0021	0.0047	6.919e-05	0.0033247	514	154602	rs74799106	0.0018	0.0018	0.0020	0.0016	0.0238	0.0017	0.0017	0.0224	0.0219	0.0238	0.0042	0.0096	0	7.496e-05	0.0132	0.0010	0.0036	0.0001	0.0072	0.0073	0.0075	0.0070	0.0218	0.0069	0.0067	0.0206	0.0201	0.0218	0	0.0055	0.0081	0	9.448e-05	0.0170	0.0010	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000021	0.00348	U	59.758900	1	0.08975	N	0.055	0.08163	N	4.17	0.02767	T	1.38	0.00857	N	0.068	0.05799	-0.9400	0.42616	T	0.002	0.00646	T	10	0.003281474	0.00056	T	.	.	.	0.019	0.03383	.	.	0.0666544352282	0.05500	0.034042740829158945	0.03352	0.551944419409	0.52020	.	.	.	9.01E-4	0.00463	T	-0.696912	0.00038	T	-0.856874	0.00877	T	0.00248992741036655	0.00026	T	.	.	.	0.28840446	0.51844	0.12524948	0.30181	0.28840446	0.51843	0.12524948	0.30180	-3.793	0.20700	T	.	.	0.059	0.01179	B	.;.;.	.;.;.	-2.031947	0.00094	0.002	0.038637242315294452	0.00001	0.00080	0.00545	N	AEFDBI	0.024298	0.01482	N	-2.6006158904603	0.00009	0.0004027124	-2.6360180240318	0.00011	0.0004954953	0.0356702924315623	0.14210	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.88	0.05342	-3.279000	0.00585	.	.	-3.459000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4009:0.4462:0.1529:0.0	5.510	0.16163	982	0.03397	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	0.015591	0.056122	0.023224	0.016667	0.000000	0.000000	0.000000	0.000000	0.02632	6554.33	431	chr19	54819841	.	A	G	6554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=2920;ExcessHet=0;FS=3.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.926;QD=15.21;ReadPosRankSum=-0.616;SOR=0.962	GT:AD:DP:GQ:PL	0/1:200,231:431:99:6568,0,4972	18	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	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,46:400:99:0|1:54855608_TCTC_T:866,0,14726:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,44:400:99:0|1:54855608_TCTC_T:776,0,14795:54855608	10	0	9	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,63:284:99:0|1:54865794_T_C:1980,0,9090:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,66:301:99:0|1:54865794_T_C:2064,0,9669:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,64:292:99:0|1:54865794_T_C:2001,0,9381:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,62:290:99:0|1:54865794_T_C:1917,0,9387:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,62:283:99:0|1:54865794_T_C:1938,0,9093:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,59:277:99:0|1:54865794_T_C:1821,0,8976:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,54:253:99:0|1:54865794_T_C:1668,0,8193:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,51:250:99:0|1:54865794_T_C:1542,0,8179:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,53:240:99:0|1:54865794_T_C:1591,0,7608:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,42:327:99:0|1:54866416_T_C:906,0,11841:54866416	12	0	7	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,122:124:99:1|1:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3860,324,0:55358511	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,122:124:99:1|1:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:5430,379,0:55358511	0	15	4	0
chr19	55541283	55541283	C	A	exonic	SBK3	.	nonsynonymous SNV	SBK3:NM_001199824:exon4:c.G643T:p.D215Y	.	376	1134	12	0	0	12	0.00526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.000798722	0.0028	0	0	0	0	0	0	0.0045	0.0002781	43	154602	rs568564168	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0031	0.0030	6.332e-05	0.0001	0	0	0	0.0016	0.0001	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0002	0	0	0	0	0.0003	0	0.0048	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.26717	-0.7691	0.56907	T	0.150	0.47804	T	4	0.0061459243	0.00138	T	.	.	.	.	.	.	.	0.290222751274	0.28632	0.5381085148151405	0.53735	.	.	0.759571135044	0.75866	T	0.040333	0.25493	T	-0.38752	0.02791	T	-0.33026	0.41441	T	0.0572062612220503	0.06721	T	0.692631	0.30204	T	0.0593818	0.12062	0.116223335	0.28056	0.0593818	0.12062	0.116223335	0.28056	-9.383	0.70129	D	.	.	0.139	0.30423	B	.	.	1.814290	0.23053	15.87	0.97823571278263011	0.36213	0.27566	0.23313	N	AEFDBI	0.303299	0.41131	N	-0.750872743678964	0.14609	0.7291885	-0.90223407846484	0.12042	0.6171266	1.35951535934299E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.01	0.548	0.16397	0.143000	0.15936	0.053000	0.14027	-0.233000	0.07663	0.002000	0.15269	0.000000	0.08366	0.017000	0.10941	0.0:0.6864:0.0:0.3136	7.532	0.26855	946	0.12043	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	1	0	0	0	0.004320	0.000000	0.004505	0.000000	0.000000	0.000000	0.010000	0.009091	0.02632	730.33	63	chr19	55541283	.	C	A	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.943;DP=736;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.72;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,28:63:99:744,0,924	18	0	1	0
chr19	55622185	55622185	C	T	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.G538A:p.E180K	.	326	1176	20	0	0	20	0.0084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0091853	0.0179	0.0060	0	0	0	0.0078	0	0.0236	0.0042237	653	154602	rs200843026	0.0100	0.0097	0.0098	0.0103	0.0203	0.0099	0.0098	0.0195	0.0191	0.0013	0.0027	0.0031	0	0.0110	0.0069	0.0103	0.0087	0.0203	0.0065	0.0065	0.0065	0.0064	0.0223	0.0061	0.0060	0.0189	0.0176	0.0014	0	0.0030	0.0032	0.0004	0.0059	0	0.0101	0.0038	0.0223	0.506	0.07594	T	0.83	0.03717	T	0.895	0.49247	P	0.191	0.36391	B	0.001782	0.37998	N	0.000000	1	0.81001	D	0.895	0.22405	L	2.99	0.09262	T	0.14	0.05405	N	0.075	0.04913	-0.9087	0.47013	T	0.014	0.05753	T	10	0.003662169	0.00067	T	.	.	.	0.081	0.23632	.	.	0.186928172975	0.18263	0.34875874643154625	0.34789	1.55192575573	0.87917	0.892487764359	0.95567	D	0.004066	0.03473	T	-0.509117	0.00508	T	-0.487831	0.23619	T	0.0175677526721644	0.00490	T	0.713029	0.32487	T	0.12963565	0.30272	0.116971575	0.28237	0.12963565	0.30271	0.116971575	0.28236	-4.935	0.36126	T	.	.	0.355	0.56920	A	.	.	3.237655	0.44185	21.9	0.99802079065761995	0.88639	0.31536	0.24362	N	AEFDBCI	0.097369	0.19640	N	-0.357853418025427	0.26985	1.477026	-0.387883954714795	0.25357	1.393988	0.995097536887973	0.33950	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	3.21	3.21	0.35933	0.983000	0.29150	2.625000	0.33658	0.522000	0.23927	0.095000	0.22689	0.858000	0.27459	0.539000	0.29915	0.0:1.0:0.0:0.0	10.200	0.42254	911	0.21964	.	ZNF784|ZNF784|CTD-2537I9.18|ZNF784	Adipose_Subcutaneous|Nerve_Tibial|Thyroid|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002176	0.005682	0.002933	0.000000	0.000000	0.000000	0.003425	0.000000	0.05263	896.83	53	chr19	55622185	.	C	T	896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=716;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.207;SOR=0.654	GT:AD:DP:GQ:PL	0/1:29,24:53:99:627,0,775	17	0	2	0
chr19	57875094	57875094	G	A	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.C296T:p.P99L	.	450	1071	1	0	0	1	0.000466636	.	.	.	2453272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00161442144166	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs565491690	3.869e-05	4.173e-05	2.642e-05	5.124e-05	0.0002	3.043e-05	2.731e-05	5.684e-05	4.25e-05	0.0001	0.0001	0	2.563e-05	0	0.0002	2.664e-05	0.0001	0.0001	5.973e-05	6.571e-05	6.485e-05	5.437e-05	0.0002	3.105e-05	2.23e-05	6.339e-05	4.337e-05	0.0001	0	6.645e-05	0	0	0	0	1.478e-05	0	0.0002	0.195	0.20759	T	0.138	0.33780	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.015	0.05111	N	4.84	0.01481	T	-4.93	0.81755	D	0.099	0.18649	-0.9262	0.44688	T	0.004	0.01435	T	9	0.064338446	0.08517	T	0.001614	0.02600	T	0.016	0.02506	0.537	0.64730	0.0920862733494	0.08535	0.04915719478850073	0.04858	0.0585279226959	0.06489	0.231437221169	0.02076	T	0.184822	0.53759	T	-0.481994	0.00720	T	-0.660828	0.08211	T	0.044476013593631	0.04506	T	0.0675932	0.00623	T	0.06098703	0.12576	0.075655356	0.16678	0.06098703	0.12576	0.075655356	0.16678	-1.531	0.01829	T	.	.	0.124	0.37727	B	.;.	.;.	0.329865	0.07040	3.602	0.95753851217935193	0.27731	0.00240	0.01331	N	AEFBI	0.046728	0.07791	N	-1.2879703959417	0.03819	0.1712997	-1.38878846708122	0.03370	0.1570831	2.0440414048226E-4	0.05948	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	2.49	-2.6	0.05830	-1.959000	0.01609	.	.	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5343:0.0:0.4657:0.0	6.368	0.20672	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1106.33	60	chr19	57875094	.	G	A	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.51;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.56;MQRankSum=-1.166;QD=18.44;ReadPosRankSum=-0.357;SOR=0.985	GT:AD:DP:GQ:PL	0/1:23,37:60:99:1120,0,586	18	0	1	0
chr20	885209	885209	G	A	exonic	ANGPT4	.	nonsynonymous SNV	ANGPT4:NM_001322809:exon4:c.C704T:p.T235I,ANGPT4:NM_015985:exon4:c.C704T:p.T235I	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0101049720687	7.7e-05	.	5.028e-05	0	0	0	0	3.181e-05	0	0.0002	1.94e-05	3	154602	rs375064442	1.246e-05	1.3e-05	1.099e-05	1.394e-05	0.0009	7.79e-06	6.42e-06	0.0003	0.0002	0	0	0	0	0	0.0009	2.717e-06	1.676e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.141	0.33442	T	0.454	0.36182	P	0.198	0.36766	B	0.406529	0.04566	N	1.382280	0.935903	0.26932	N	1.525	0.38595	L	2.56	0.13673	T	-2.6	0.55983	D	0.086	0.06322	-1.0037	0.28844	T	0.028	0.12147	T	10	0.09780726	0.17641	T	0.010105	0.26235	T	0.040	0.10527	.	.	0.592629291814	0.58940	0.14814052613559187	0.14736	0.214485801708	0.23985	0.393214285374	0.24121	T	0.035312	0.23667	T	-0.447928	0.01161	T	-0.69529	0.06087	T	0.292406797409058	0.24690	T	0.532847	0.17735	T	0.069546096	0.15244	0.16779386	0.38690	0.069546096	0.15244	0.16779386	0.38689	-5.307	0.40012	T	.	.	0.165	0.36355	B	.	.	2.000238	0.25411	16.75	0.9747569385420588	0.34162	0.29822	0.23922	N	AEFDBHCI	0.146235	0.26964	N	-0.369380540517147	0.26565	1.450841	-0.352652520207503	0.26427	1.459636	0.999082363159802	0.38397	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.526665	0.08891	0	.	.	4.7	2.59	0.30091	1.844000	0.38910	4.631000	0.44116	0.676000	0.76740	0.530000	0.27189	0.935000	0.28640	0.148000	0.20235	0.1078:0.0:0.6287:0.2635	5.144	0.14304	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	.	.	.	.	.	.	.	.	0.02632	1566.33	108	chr20	885209	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.311;DP=788;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.028;SOR=0.901	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1580,0,1416	18	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V,SLC4A11:NM_001174089:exon8:c.C893T:p.A298V,SLC4A11:NM_001174090:exon8:c.C1022T:p.A341V,SLC4A11:NM_001363745:exon8:c.C893T:p.A298V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	350834	Corneal_dystrophy|not_specified|not_provided|Corneal_dystrophy-perceptive_deafness_syndrome	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05263	4521.83	220	chr20	3231385	.	G	A	4521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.579;DP=1079;ExcessHet=0.119;FS=5.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.174;SOR=0.699	GT:AD:DP:GQ:PL	0/1:119,101:220:99:2359,0,2747	17	0	2	0
chr20	3748364	3748364	C	T	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon7:c.C565T:p.R189C,HSPA12B:NM_001197327:exon8:c.C820T:p.R274C,HSPA12B:NM_052970:exon8:c.C823T:p.R275C	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.00791553771423	0.0008	0.000399361	0.0012	0	0.0011	0	0	0.0016	0.0027	0.0010	0.0009444	146	154602	rs139111180	0.0008	0.0008	0.0008	0.0009	0.0058	0.0008	0.0008	0.0042	0.0037	0.0002	0.0015	0.0036	5.111e-05	3.858e-05	0.0058	0.0008	0.0015	0.0006	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0007	0.0029	0.0002	0	0.0068	0.0010	0.0009	0.0006	0.201	0.34800	T	0.185	0.28958	T	0.048	0.22112	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	1.78	0.46185	L	1.46	0.46028	T	-0.98	0.25986	N	0.321	0.36148	-1.0240	0.22410	T	0.095	0.35844	T	10	0.009273231	0.00209	T	0.007916	0.21007	T	0.235	0.53788	.	.	0.650169478884	0.64726	0.42778947382337046	0.42695	1.0341533241	0.75521	0.687376499176	0.65328	T	0.031971	0.22281	T	-0.13767	0.30261	T	-0.00590795	0.69953	D	0.0450740245908203	0.04615	T	0.822218	0.48193	T	0.15366106	0.34820	0.07450276	0.16304	0.15366106	0.34820	0.07450276	0.16304	-4.977	0.36589	T	.	.	0.128	0.27161	B	.;.	.;.	3.894827	0.56694	23.8	0.9946019116539927	0.65736	0.24407	0.22384	N	AEFDBI	0.283776	0.39680	N	-0.355655329355981	0.27065	1.481981	-0.264150401651686	0.29287	1.639692	0.958850997488869	0.28389	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.97	4.01	0.45821	0.375000	0.20248	3.348000	0.37762	0.599000	0.40250	0.024000	0.20007	1.000000	0.68203	0.995000	0.73285	0.165:0.835:0.0:0.0	12.701	0.56403	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007064	0.000000	0.008152	0.002924	0.000000	0.008621	0.015432	0.000000	0.02632	545.33	52	chr20	3748364	.	C	T	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=680;ExcessHet=0;FS=3.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.11;SOR=0.269	GT:AD:DP:GQ:PL	0/1:26,26:52:99:559,0,581	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:104,61:176:99:456,0,1494	3	0	14	2
chr20	4862862	4862862	C	T	exonic	SLC23A2	.	nonsynonymous SNV	SLC23A2:NM_005116:exon14:c.G1402A:p.A468T,SLC23A2:NM_203327:exon14:c.G1402A:p.A468T	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00925151946133	7.7e-05	0.000199681	0.0006	0.0002	0.0003	0	0	0.0006	0	0.0019	0.0005304	82	154602	rs201605928	0.0003	0.0003	0.0003	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	2.988e-05	0.0003	0.0001	2.519e-05	0.0002	0.0016	0.0003	0.0004	0.0016	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	7.215e-05	0.0099	0.0001	0	0	0	0.0068	0.0005	0	0.0010	0.011	0.55530	D	0.007	0.69154	D	0.111	0.26235	B	0.096	0.30313	B	0.031720	0.25130	N	0.452224	1	0.08975	N	1.08	0.27187	L	2.2	0.18570	T	-0.39	0.13611	N	0.315	0.35620	-1.0600	0.11756	T	0.052	0.22076	T	10	0.04046017	0.02617	T	0.009252	0.24296	T	0.120	0.33359	.	.	0.110392049598	0.10638	0.5239823253730236	0.52322	0.870319182864	0.69373	0.504937231541	0.39516	T	0.157052	0.49948	T	-0.475105	0.00791	T	-0.461708	0.26413	T	0.0191854952216271	0.00625	T	0.922508	0.71813	D	0.0552341	0.10706	0.061056927	0.11727	0.0552341	0.10706	0.061056927	0.11727	-3.417	0.15286	T	.	.	0.095	0.16756	B	.;.	.;.	2.990410	0.39923	21.1	0.98981306274986014	0.49740	0.32347	0.24563	N	AEFDBI	0.054445	0.09900	N	-0.208416205513093	0.32787	1.853057	-0.218940263961065	0.30856	1.741067	0.0195852293340798	0.13176	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	4.45	0.53365	1.285000	0.32866	3.996000	0.41031	0.599000	0.40250	0.663000	0.28286	0.995000	0.32472	0.048000	0.15020	0.1864:0.5144:0.1792:0.12	2.513	0.04377	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.025862	0.000000	0.003788	0.02632	905.33	74	chr20	4862862	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.396;SOR=0.677	GT:AD:DP:GQ:PL	0/1:36,38:74:99:919,0,856	18	0	1	0
chr20	16380020	16380020	C	T	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon19:c.G1982A:p.R661H,KIF16B:NM_001199866:exon19:c.G1982A:p.R661H,KIF16B:NM_024704:exon19:c.G1982A:p.R661H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0286457099082	0.0002	.	4.258e-05	0	0	0	0	6.089e-05	0	7.278e-05	4.53e-05	7	154602	rs368432617	3.593e-05	3.694e-05	3.159e-05	4.032e-05	0.0004	2.79e-05	2.526e-05	6.19e-05	2.85e-05	0	0	0	0	0	0.0004	4.158e-05	1.676e-05	3.595e-05	4.599e-05	4.596e-05	3.854e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-05	0	0.0002	0.016	0.55530	D	0.008	0.67890	D	0.999	0.77913	D	0.875	0.70482	P	0.000000	0.84330	D	0.000000	0.999099	0.81001	D	2.545	0.74286	M	2.24	0.17923	T	-2.47	0.53898	N	0.64	0.71232	-1.0893	0.05650	T	0.106	0.38636	T	10	0.41970956	0.56780	T	0.028646	0.51291	D	0.192	0.47115	.	.	0.542543016418	0.53907	0.38523555891519834	0.38438	0.611226101103	0.55771	0.664208769798	0.62011	T	0.23496	0.60211	T	-0.131704	0.31220	T	-0.316902	0.42913	T	0.953593790531158	0.64063	D	0.987868	0.95886	D	0.26033494	0.49089	0.18038715	0.40835	0.26033494	0.49089	0.18038715	0.40834	-6.576	0.51999	T	.	.	0.100	0.32733	B	.;.;.	.;.;.	5.077494	0.84722	28.4	0.99957906907010741	0.99986	0.96551	0.69706	D	AEFBI	0.768438	0.70400	D	0.742629566098747	0.82422	7.759055	0.727091389731885	0.84436	8.291241	0.998958446801717	0.38059	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.28	5.28	0.74118	5.627000	0.67460	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9251:0.0:0.0749	13.579	0.61352	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	151	chr20	16380020	.	C	T	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=867;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.647;SOR=0.735	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1822,0,1878	18	0	1	0
chr20	31389197	31389197	A	C	exonic	DEFB119	.	nonsynonymous SNV	DEFB119:NM_001271209:exon2:c.T92G:p.L31W,DEFB119:NM_153323:exon2:c.T95G:p.L32W	.	425	1054	43	0	0	43	0.0199907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0173536340056	0.0008	0.000599042	0.0015	0.0002	0.0008	0	0.0002	0.0015	0.0033	0.0042	0.0013325	206	154602	rs149638804	0.0011	0.0011	0.0009	0.0012	0.0147	0.0010	0.0010	0.0122	0.0113	0.0002	0.0011	0.0021	0	0	0.0147	0.0008	0.0014	0.0042	0.0012	0.0012	0.0012	0.0012	0.0046	0.0011	0.0010	0.0031	0.0026	0.0002	0.0307	0.0009	0.0020	0	0	0.0272	0.0013	0.0024	0.0046	0.004	0.65419	D	0.079	0.42086	T	0.979	0.59044	D	0.852	0.60758	P	0.073950	0.02282	N	2.139760	1	0.81001	D	.	.	.	2.77	0.11407	T	-2.5	0.54382	D	0.397	0.43803	-1.0844	0.06517	T	0.064	0.26456	T	9	0.009447515	0.00213	T	0.017354	0.39013	T	0.097	0.27909	.	.	0.294918367191	0.29099	0.2662954234473289	0.26542	0.606481293872	0.55497	0.317646145821	0.13064	T	.	.	.	-0.563576	0.00242	T	-0.582595	0.14315	T	0.059819819044045	0.07140	T	0.375062	0.08943	T	.	.	.	.	.	.	.	.	-3.818	0.21074	T	.	.	0.297	0.52784	B	.	.	2.888993	0.38257	20.7	0.95847270020322906	0.27981	0.67904	0.33603	D	AEFDGBI	0.278729	0.39294	N	0.274980705534324	0.54884	3.653015	0.210978325622909	0.50456	3.237452	1.8891463729329E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	2.75	0.31439	2.031000	0.40737	6.506000	0.55795	0.756000	0.94297	0.957000	0.33433	1.000000	0.68203	0.897000	0.43391	0.7792:0.2208:0.0:0.0	7.455	0.26434	519	0.74455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.010101	0.008152	0.014620	0.000000	0.000000	0.009146	0.000000	0.02632	667.33	61	chr20	31389197	.	A	C	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=700;ExcessHet=0;FS=5.31;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.447;SOR=1.445	GT:AD:DP:GQ:PL	0/1:36,25:61:99:681,0,880	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:94,52:158:99:176,0,1391	2	0	17	0
chr20	38231254	38231254	A	C	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon5:c.T1819G:p.C607G,KIAA1755:NM_001348708:exon5:c.T976G:p.C326G	.	409	1107	6	0	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0408787840789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000140	0.49741	D	0.000000	0.971819	0.38899	D	2.955	0.85029	M	2.05	0.20664	T	-8.5	0.97298	D	0.891	0.90363	-0.7266	0.59135	T	0.162	0.49831	T	10	0.8349875	0.82656	D	0.040879	0.59619	D	0.275	0.59130	0.524	0.62818	0.402899589544	0.39908	0.730887077985616	0.73033	0.299127988251	0.32281	0.515427708626	0.40983	T	0.119726	0.44146	T	0.174004	0.71491	D	0.0121685	0.71123	D	0.998488068580627	0.94283	D	0.726327	0.34071	T	0.82441294	0.85519	0.83219886	0.90328	0.82441294	0.85520	0.83219886	0.90329	-7.692	0.58952	D	.	.	0.319	0.59893	B	.;.	.;.	3.776424	0.54268	23.5	0.97917876447912411	0.36864	0.72311	0.35398	D	AEFDBCI	0.617610	0.60373	D	0.601484674387906	0.73267	5.938547	0.492755412484853	0.67508	5.093536	0.99999399042116	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.550183	0.17644	0	.	.	5.15	5.15	0.70287	5.710000	0.68045	7.757000	0.68234	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	1.0:0.0:0.0:0.0	13.945	0.63589	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	.	.	.	.	.	.	.	.	0.02632	706.33	90	chr20	38231254	.	A	C	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=722;ExcessHet=0;FS=2.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=-0.19;SOR=0.66	GT:AD:DP:GQ:PL	0/1:58,32:90:99:720,0,1417	18	0	1	0
chr20	41174299	41174299	G	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon31:c.G3821A:p.S1274N,PLCG1:NM_182811:exon31:c.G3818A:p.S1273N	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00683720806851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	1.361e-06	8.254e-06	0.0003	1.99e-06	1.28e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.07772	T	0.494	0.11407	T	0.0	0.02946	B	0.001	0.04355	B	0.034266	0.24791	N	0.462898	1	0.08975	N	0.205	0.09354	N	0.95	0.43279	T	-0.52	0.16187	N	0.165	0.17416	-1.0682	0.09813	T	0.060	0.25163	T	10	0.04742056	0.04058	T	0.006837	0.18093	T	0.071	0.20720	0.283	0.23961	0.281547015583	0.27767	0.39954528870464223	0.39869	.	.	0.411311089993	0.26638	T	0.351258	0.71885	T	-0.352963	0.04544	T	-0.744784	0.03693	T	0.0576815865933895	0.06799	T	0.714229	0.33404	T	0.04947946	0.08792	0.056406222	0.10074	0.04947946	0.08792	0.056406222	0.10073	-4.629	0.32534	T	.	.	0.078	0.07036	B	.;.	.;.	1.945838	0.24712	16.50	0.92073120669736264	0.21420	0.52847	0.29229	D	AEFGBCI	0.160155	0.28605	N	-0.478707249764883	0.22780	1.21876	-0.345203749077792	0.26658	1.473878	0.998374982866492	0.36850	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.35	1.98	0.25351	1.384000	0.34003	2.328000	0.32177	0.676000	0.76740	0.153000	0.23698	0.927000	0.28453	0.986000	0.61781	0.1367:0.0:0.4793:0.384	5.803	0.17687	943	0.12886	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2592.33	172	chr20	41174299	.	G	A	2592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=813;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.888;SOR=0.641	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2606,0,2106	18	0	1	0
chr20	43673807	43673807	G	A	exonic	MYBL2	.	nonsynonymous SNV	MYBL2:NM_001278610:exon2:c.G22A:p.E8K,MYBL2:NM_002466:exon2:c.G22A:p.E8K	.	417	1099	6	0	0	6	0.00272232	0.5815	0.438	.	2714013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.0191443877775	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447840943	1.343e-05	1.642e-05	1.397e-05	1.287e-05	0.0012	8.59e-06	6.92e-06	0.0006	0.0004	3.1e-05	0	0	0	0	0.0012	1.012e-05	0	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.014	0.63109	D	0.957	0.54824	D	0.122	0.32387	B	0.000007	0.62929	D	0.107484	0.999986	0.54805	D	2.005	0.54552	M	2.11	0.19860	T	-2.37	0.54702	N	0.389	0.43029	-1.0482	0.14903	T	0.055	0.23110	T	10	0.23704627	0.40798	T	0.019144	0.41421	T	0.248	0.55615	0.377	0.39156	0.344740032716	0.34089	0.37897486105921346	0.37812	1.79454408354	0.91555	0.884761571884	0.94593	D	0.735377	0.92626	D	-0.0508834	0.44313	T	-0.310867	0.43564	T	0.857327401638031	0.50809	D	0.844815	0.52285	T	0.37922418	0.59260	0.38573265	0.63483	0.37922418	0.59260	0.38573265	0.63483	-3.192	0.27697	T	.	.	0.303	0.64454	B	.;.	.;.	5.492752	0.91499	32	0.99684041135618018	0.79440	0.93628	0.58739	D	AEFDGBCI	0.665909	0.63456	D	0.178503084282476	0.50167	3.209437	0.203397629797594	0.50034	3.199892	0.99999999755597	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	7.804000	0.84553	9.579000	0.81025	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:1.0:0.0	17.054	0.86402	528	0.73785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	122	chr20	43673807	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.634;SOR=0.747	GT:AD:DP:GQ:PL	0/1:75,47:122:99:1154,0,1699	18	0	1	0
chr20	56381474	56381474	G	A	exonic	AURKA	.	nonsynonymous SNV	AURKA:NM_003600:exon6:c.C664T:p.L222F,AURKA:NM_198435:exon6:c.C664T:p.L222F,AURKA:NM_198437:exon6:c.C664T:p.L222F,AURKA:NM_001323303:exon7:c.C664T:p.L222F,AURKA:NM_001323304:exon7:c.C664T:p.L222F,AURKA:NM_198434:exon7:c.C664T:p.L222F,AURKA:NM_198436:exon7:c.C664T:p.L222F,AURKA:NM_001323305:exon8:c.C664T:p.L222F,AURKA:NM_198433:exon8:c.C664T:p.L222F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709	0.0628084844214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	0.000005	0.62929	D	0.000000	1	0.81001	D	.	.	.	-0.65	0.72237	T	-3.83	0.72240	D	0.782	0.77883	0.207	0.86027	D	0.577	0.84764	D	10	0.81815517	0.81038	D	0.062808	0.68771	D	0.709	0.89605	0.576	0.70087	0.77016534982	0.76805	0.7830217219064631	0.78253	.	.	0.680755674839	0.64377	T	0.066206	0.32886	T	0.274046	0.80799	D	0.155872	0.80553	D	0.989840742506246	0.80064	D	0.918008	0.70480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.87371	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.082940	0.84841	28.4	0.9991223772396427	0.98167	0.99440	0.96055	D	AEFBI	0.909127	0.86535	D	0.885099186519782	0.91011	10.67227	0.853848828129106	0.93241	11.91306	1.0	0.98316	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.592000	0.81944	9.725000	0.81379	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.762	0.96320	987	0.02648	.;.;.;.;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	521.33	50	chr20	56381474	.	G	A	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=677;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.205;SOR=0.289	GT:AD:DP:GQ:PL	0/1:28,22:50:99:535,0,749	18	0	1	0
chr20	56445928	56445928	G	C	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon3:c.G326C:p.R109P,CASS4:NM_001164115:exon3:c.G488C:p.R163P,CASS4:NM_020356:exon3:c.G488C:p.R163P,CASS4:NM_001164116:exon4:c.G488C:p.R163P	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.012402183307	0.0002	0.00139776	0.0013	9.626e-05	0.0002	0	0.0003	0.0004	0.0045	0.0077	0.0011513	178	154602	rs149841530	0.0007	0.0007	0.0004	0.0009	0.0082	0.0006	0.0006	0.0077	0.0075	0.0005	8.944e-05	0.0028	0	1.878e-05	0.0036	8.363e-05	0.0011	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	4.818e-05	0	0	0.0038	0	0	0	0.0002	0	0.0066	0.014	0.53172	D	0.213	0.51421	T	0.986	0.77913	D	0.769	0.65636	P	0.105942	0.02592	N	1.740750	1	0.08975	N	2.215	0.62545	M	2.43	0.21865	T	-3.57	0.68999	D	0.166	0.19459	-1.0460	0.15534	T	0.106	0.38636	T	10	0.0065027773	0.00147	T	0.012402	0.30939	T	0.097	0.27909	.	.	0.168933306366	0.16529	0.42310685389067393	0.42227	.	.	0.239176526666	0.02717	T	0.13167	0.46130	T	-0.487838	0.00668	T	-0.468535	0.25674	T	0.0947952644140671	0.11774	T	0.763224	0.39853	T	0.30827567	0.53636	0.22834937	0.47874	0.30827567	0.53636	0.22834937	0.47873	-3.345	0.14325	T	.	.	0.127	0.27100	B	.;.	.;.	1.604234	0.20508	14.78	0.9867108982920203	0.44470	0.15935	0.19152	N	AEFDBCI	0.187868	0.31515	N	-0.308841378077718	0.28811	1.592291	-0.540583565487438	0.21056	1.137306	0.999942353432912	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	-0.5	0.11412	-0.026000	0.12340	-1.365000	0.05612	-0.109000	0.15193	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.2201:0.1235:0.5296:0.1268	2.681	0.04777	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	2081.33	226	chr20	56445928	.	G	C	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.875;DP=861;ExcessHet=0;FS=5.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.704;SOR=0.857	GT:AD:DP:GQ:PL	0/1:132,94:226:99:2095,0,3132	18	0	1	0
chr20	58996662	58996662	G	A	exonic	CTSZ	.	nonsynonymous SNV	CTSZ:NM_001336:exon5:c.C778T:p.R260W	.	410	1111	1	0	0	1	0.000449843	.	.	.	3661438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.157098838933	.	.	7.413e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs759602283	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0002	3.025e-05	2.719e-05	0.0001	8.646e-05	0	0	0	2.519e-05	0	0.0002	2.878e-05	0.0001	0.0002	1.973e-05	1.97e-05	2.571e-05	1.346e-05	6.546e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.833e-05	0	6.546e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055139	1	0.81001	D	4.29	0.98219	H	0.68	0.51952	T	-7.41	0.94786	D	0.946	0.95374	0.271	0.87092	D	0.454	0.78703	T	10	0.95139843	0.94478	D	0.157099	0.83775	D	0.628	0.85666	0.784	0.90768	0.818887239766	0.81717	0.9737091948067886	0.97360	0.982560398105	0.73794	0.728463768959	0.71282	T	0.906124	0.98196	D	0.110316	0.65384	D	0.216877	0.84016	D	0.996336102485657	0.89135	D	0.999727	0.99933	D	0.92354316	0.93595	0.7874074	0.87485	0.92354316	0.93595	0.7874074	0.87486	-18.477	0.99690	D	.	.	0.877	0.81277	P	.	.	5.334479	0.89519	30	0.99902594645946485	0.97426	0.98010	0.78847	D	AEFDBHCI	0.890883	0.82633	D	0.745703424533686	0.82625	7.808931	0.596301503243908	0.74675	6.177394	0.999999997797651	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.43	4.47	0.53770	4.848000	0.62573	8.555000	0.77544	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.1333:0.8667:0.0	16.209	0.81965	987	0.02648	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Peptidase C1A, papain 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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	2985.33	218	chr20	58996662	.	G	A	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=888;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.214;SOR=0.878	GT:AD:DP:GQ:PL	0/1:102,116:218:99:2999,0,2177	18	0	1	0
chr20	60012548	60012548	C	G	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_001348204:exon4:c.C193G:p.L65V,CDH26:NM_021810:exon6:c.C316G:p.L106V,CDH26:NM_177980:exon18:c.C2317G:p.L773V	.	427	1051	43	1	0	45	0.0209595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0018	0.00798722	0.0054	0.0002	0.0010	0	0	0.0021	0.0077	0.03	0.0049223	761	154602	rs142001408	0.0029	0.0029	0.0021	0.0036	0.0269	0.0028	0.0028	0.0259	0.0256	0.0002	0.0011	0.0020	5.039e-05	9.36e-05	0.0106	0.0014	0.0026	0.0269	0.0019	0.0019	0.0015	0.0023	0.0270	0.0017	0.0017	0.0232	0.0218	0.0003	0	0.0006	0.0017	0.0002	0	0.0136	0.0019	0.0028	0.0270	0.691	0.36709	T	0.237	0.92824	T	0.998	0.73220	D	0.88	0.65091	P	.	.	.	.	1	0.08975	N	.	.	.	0.32	0.75911	T	-0.29	0.32991	N	0.062	0.17278	-0.6323	0.63473	T	0.438	0.77708	T	8	0.0040251613	0.00078	T	.	.	.	0.119	0.33137	.	.	0.280181792013	0.27631	0.1316821982360792	0.13093	0.369338729039	0.38458	0.251678436995	0.03947	T	.	.	.	-0.45362	0.01075	T	-0.403421	0.32988	T	0.016949572632361	0.00446	T	0.468753	0.13831	T	0.054678217	0.10523	0.05006095	0.07778	0.054678217	0.10522	0.05006095	0.07778	-3.895	0.27327	T	.	.	0.079	0.24329	B	.;.;.	.;.;.	0.472862	0.08423	5.181	0.98745391950640393	0.45572	0.09523	0.15260	N	AEFDBCI	0.056347	0.10411	N	-0.307637999369078	0.28858	1.595234	-0.510783118436354	0.21860	1.184581	0.14143907576024	0.17280	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	3.68	2.74	0.31352	0.200000	0.17055	0.456000	0.18569	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8791:0.0:0.1209	7.254	0.25339	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.008152	0.017544	0.000000	0.000000	0.012195	0.030303	0.02632	951.33	87	chr20	60012548	.	C	G	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.628;SOR=0.687	GT:AD:DP:GQ:PL	0/1:48,39:87:99:965,0,1253	18	0	1	0
chr20	62312527	62312527	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon68:c.G9233A:p.R3078Q	.	418	1101	3	0	0	3	0.00136054	.	.	YES	2103469	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	0.0457196826803	0.0002	.	0.0004	0	0.0019	0	0	0.0004	0.0013	6.484e-05	0.000304	47	154602	rs144323773	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0005	0.0006	0.0006	2.989e-05	0.0009	0	0	0	0.0003	0.0006	0.0006	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	9.622e-05	0	0.0004	0	0	0	0	0.0003	0.0005	0.0006	0.035	0.43708	D	0.127	0.35082	T	0.068	0.23728	B	0.009	0.14300	B	0.209884	0.16391	N	0.606409	1	0.08975	N	1.585	0.39878	L	-1.17	0.78199	T	-1.48	0.36189	N	0.147	0.14905	-0.8684	0.50650	T	0.244	0.61272	T	10	0.031110734	0.01243	T	0.04572	0.62114	D	0.152	0.39956	.	.	0.511191291104	0.50759	0.30437492269285527	0.30350	.	.	0.280768305063	0.07600	T	0.131421	0.46090	T	-0.356298	0.04343	T	-0.39554	0.33903	T	0.0115965405389462	0.00176	T	0.714029	0.32612	T	0.06012361	0.12302	0.06204132	0.12076	0.06012361	0.12301	0.06204132	0.12075	-7.136	0.55020	T	.	.	0.062	0.01367	B	.	.	0.861405	0.12337	8.878	0.97329165330942813	0.33413	0.03659	0.08916	N	AEFDGBCI	0.067184	0.13194	N	-1.16057667527633	0.05608	0.2561006	-1.23557571033779	0.05348	0.2545924	0.999842002448578	0.43971	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.36	-1.44	0.08391	-0.321000	0.08060	-5.727000	0.01616	-0.321000	0.05860	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2171:0.267:0.0:0.516	5.105	0.14111	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	136	chr20	62312527	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=981;ExcessHet=0;FS=4.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.126;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,56:136:99:1|0:62312525_G_A:1452,0,3129:62312525	18	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	0.02632	4038.29	225	chr20	64208099	.	AGAG	A	4038.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.375;DP=1087;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-0.208;SOR=0.72	GT:AD:DP:GQ:PL	0/1:118,107:225:99:4052,0,4545	18	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:221,145:366:99:3769,0,5393	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:185,126:311:99:2818,0,4850	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:73,88:161:99:1902,0,1806	3	5	11	0
chr21	15849859	15849859	C	G	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001283042:exon19:c.C2420G:p.A807G,USP25:NM_001283041:exon20:c.C2534G:p.A845G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.130109930482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266776466	1.17e-05	1.437e-05	1.009e-05	1.335e-05	0.0002	6.92e-06	5.6e-06	6.423e-05	4.812e-05	0	0	0	0	2.121e-05	0.0002	3.757e-06	1.771e-05	0.0001	3.29e-05	3.285e-05	2.572e-05	4.042e-05	0.0004	1.262e-05	7.99e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	4.412e-05	0	0.0004	0.005	0.65419	D	0.036	0.54541	D	0.964	0.59675	D	0.801	0.58220	P	0.004381	0.33816	N	0.247728	0.96478	0.81001	D	.	.	.	1.04	0.44461	T	-2.52	0.55662	D	0.472	0.50778	-0.3954	0.72172	T	0.364	0.72483	T	9	0.30801344	0.48300	T	0.13011	0.81224	D	0.170	0.43303	0.255	0.19533	0.161926535498	0.15789	0.35003238809595427	0.34917	.	.	.	.	.	.	.	.	-0.322724	0.06677	T	-0.396799	0.33756	T	0.251233941500969	0.22928	T	0.932807	0.75759	D	.	.	.	.	.	.	.	.	-7.272	0.57526	T	.	.	0.566	0.67965	P	.;.	.;.	5.005688	0.83095	28.0	0.99527289242392536	0.69653	0.98175	0.80252	D	AEFBI	0.784270	0.71501	D	0.395598092653032	0.61183	4.316024	0.467359461986891	0.65838	4.874793	0.999999999967467	0.74766	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	4.97	4.97	0.65419	7.147000	0.76970	5.894000	0.50799	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.826	0.88577	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	110	chr21	15849859	.	C	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=753;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.009;SOR=0.591	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1077,0,1345	18	0	1	0
chr21	30501993	30501993	C	A	exonic	KRTAP19-5	.	nonsynonymous SNV	KRTAP19-5:NM_181611:exon1:c.G98T:p.R33L	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00726843108916	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0.0011	6.056e-05	0.0001229	19	154602	rs138658815	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	0	0.0002	0.0012	0	0	0.0016	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	6.539e-05	0.0014	0	0	0	0.0003	0.0005	0	0.044	0.41096	D	0.634	0.07105	T	0.061	0.23190	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.99	0.09262	T	-5.33	0.84601	D	0.33	0.37093	-0.9601	0.39162	T	0.018	0.07470	T	8	0.031684786	0.01306	T	0.007268	0.19280	T	0.028	0.06331	.	.	0.222439326576	0.21863	0.08295114810904555	0.08230	0.074319526664	0.08332	.	.	.	.	.	.	-0.463603	0.00933	T	-0.608875	0.12077	T	0.0436071120202541	0.04348	T	0.317868	0.06361	T	0.119612835	0.28161	0.15926506	0.37152	0.119612835	0.28161	0.15926506	0.37151	-7.051	0.54405	T	.	.	0.207	0.43297	B	.	.	-0.789881	0.01127	0.052	0.85553934471434612	0.15965	0.02861	0.07626	N	AEFGI	0.042442	0.06585	N	-0.903138403618526	0.10769	0.51622	-0.981320175199607	0.10205	0.5125032	3.38125927084742E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.9	-0.569	0.11168	-3.016000	0.00709	-5.485000	0.01701	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.222000	0.22517	0.1508:0.4362:0.147:0.2659	1.299	0.01950	306	0.87689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.007576	0.02632	7190.33	453	chr21	30501993	.	C	A	7190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1104;ExcessHet=0;FS=1.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-1.583;SOR=0.892	GT:AD:DP:GQ:PL	0/1:185,268:453:99:7204,0,4318	18	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	0.07895	2912.79	92	chr21	33252732	.	C	G	2912.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.18;DP=972;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.479;SOR=0.709	GT:AD:DP:GQ:PL	0/1:56,36:92:99:821,0,1298	16	0	3	0
chr21	41859079	41859079	C	T	exonic	PRDM15	.	nonsynonymous SNV	PRDM15:NM_022115:exon10:c.G281A:p.R94H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0220057150202	.	.	3.451e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs768613637	2.099e-05	2.257e-05	2.496e-05	1.695e-05	3.654e-05	1.489e-05	1.292e-05	1.396e-05	1.166e-05	3.02e-05	0	0	0	0	0	2.097e-05	5.07e-05	3.654e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.182	0.29249	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.1	0.08283	T	-0.58	0.17417	N	0.05	0.02179	-0.9509	0.40816	T	0.012	0.04463	T	9	0.03820771	0.02223	T	0.022006	0.44852	T	0.017	0.02790	0.292	0.25400	0.043077524339	0.03247	0.1561941300524927	0.15540	0.552336542063	0.52049	0.245995640755	0.03358	T	0.021696	0.16853	T	-0.37781	0.03216	T	-0.780474	0.02439	T	0.035708797110279	0.02930	T	0.408659	0.10529	T	0.03142633	0.02981	0.028522212	0.01096	0.03142633	0.02980	0.028522212	0.01095	-4.417	0.29786	T	.	.	0.108	0.20430	B	.	.	-0.394995	0.02232	0.226	0.43780982241419397	0.03320	0.00697	0.02968	N	AEFDBHCI	0.016488	0.00374	N	-1.15115377236763	0.05760	0.2634749	-1.23264418670253	0.05393	0.2568556	0.994197102106415	0.33529	0.517182	0.21443	0	0.446627	0.06534	0	0.478664	0.07449	1	0.714379	0.83352	0	.	.	2.2	-0.243	0.12392	-1.409000	0.02589	-6.549000	0.01368	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3195:0.3825:0.0:0.298	1.597	0.02505	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1726.33	136	chr21	41859079	.	C	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=799;ExcessHet=0;FS=6.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=2.21;SOR=0.842	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1740,0,1810	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,10:96:96:0|1:41918930_C_G:96,0,3544:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,10:96:96:0|1:41918930_C_G:96,0,3544:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,10:98:90:0|1:41918930_C_G:90,0,3588:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,10:97:93:0|1:41918930_C_G:93,0,3546:41918930	10	0	9	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	7112.35	76	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	7112.35	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.47;DP=1155;ExcessHet=0.0526;FS=1.3;InbreedingCoeff=0.3493;MLEAC=5;MLEAF=0.147;MQ=59.76;MQRankSum=0;QD=16.09;ReadPosRankSum=1.21;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,29:76:99:.:.:957,0,1492:.	12	0	5	2
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:230,157:387:99:5677,0,8938	7	2	8	2
chr21	46151751	46151751	C	T	exonic	FTCD-AS1	.	nonsynonymous SNV	FTCD-AS1:NM_001350598:exon1:c.C217T:p.R73C	.	4	1517	1	0	0	1	0.000329489	.	.	.	1546045	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.000399361	0.0003	0.0029	0.0002	0	0	0.0001	0	0.0001	0.000304	47	154602	rs201867413	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0034	0.0003	0.0006	0.0002	0	0.0007	0.0001	0.0006	0.0002	0.0008	0.0008	0.0008	0.0008	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0001	0.0006	0	0	0	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	380.33	25	chr21	46151751	.	C	T	380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.409;SOR=0.784	GT:AD:DP:GQ:PL	0/1:12,13:25:99:394,0,285	18	0	1	0
chr22	15528351	15528351	T	C	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.T193C:p.W65R	.	537	975	10	0	0	10	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0297161768361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149999478	0.0009	0.0020	0.0010	0.0009	0.0078	0.0009	0.0009	0.0070	0.0067	0.0078	0.0019	0.0026	0	0.0002	0.0046	0.0007	0.0020	0.0002	0.0033	0.0053	0.0034	0.0031	0.0091	0.0030	0.0029	0.0083	0.0080	0.0091	0	0.0025	0.0014	0	0.0005	0.0103	0.0010	0.0014	0	0.568	0.06223	T	0.373	0.16328	T	.	.	.	.	.	.	0.741201	0.06429	N	1.171190	.	.	.	.	.	.	3.8	0.03781	T	0.05	0.06369	N	0.086	0.06322	-0.9305	0.44066	T	0.005	0.01725	T	9	0.0111835	0.00246	T	0.003987	0.09462	T	.	.	0.376	0.38994	0.123314135267	0.11883	0.17031545831944409	0.16951	.	.	0.285326629877	0.08246	T	0.00142	0.00883	T	-0.344233	0.05100	T	-0.732244	0.04226	T	0.0419040925484779	0.04037	T	0.0630937	0.00459	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.135	0.31125	B	.;.	.;.	0.876995	0.12500	9.031	0.33756861390606369	0.02028	0.00246	0.01361	N	AEFI	0.018295	0.00544	N	-1.51919454913134	0.01723	0.0754404	-1.54558912379224	0.02006	0.09167587	1.17806289158194E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.996000	0.01560	.	.	0.374000	0.20344	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1648.33	633	chr22	15528351	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=2589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.99;MQRankSum=-1.408;QD=2.6;ReadPosRankSum=0.542;SOR=0.709	GT:AD:DP:GQ:PL	0/1:501,132:633:99:1662,0,12211	18	0	1	0
chr22	15528543	15528543	C	T	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.C385T:p.L129F	.	577	937	8	0	0	8	0.0042508	.	.	.	3366907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00749487106293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290260858	0.0006	0.0011	0.0006	0.0006	0.0052	0.0006	0.0006	0.0043	0.0040	0.0052	0.0009	0.0011	0	0.0001	0.0025	0.0006	0.0009	0.0001	0.0019	0.0041	0.0020	0.0018	0.0050	0.0017	0.0017	0.0045	0.0042	0.0050	0	0.0019	0.0006	0	9.463e-05	0.0035	0.0007	0.0010	0.0002	1.0	0.00964	T	0.995	0.02336	T	.	.	.	.	.	.	0.482977	0.12144	N	0.663894	.	.	.	.	.	.	2.6	0.13204	T	4.14	0.00049	N	0.181	0.19593	-0.9434	0.42073	T	0.021	0.08824	T	9	0.009864539	0.00221	T	0.006534	0.17215	T	.	.	0.418	0.45873	0.484294873522	0.48060	0.0468725801710379	0.04630	.	.	0.278370857239	0.07266	T	0.00119	0.00692	T	-0.289407	0.09696	T	-0.653489	0.08711	T	0.0397162234268787	0.03638	T	0.641436	0.26183	T	.	.	.	.	.	.	.	.	-6.318	0.48864	T	.	.	0.087	0.11461	B	.;.	.;.	-0.210858	0.03035	0.466	0.063103759518214994	0.00022	0.00321	0.01686	N	AEFI	0.022082	0.01060	N	-1.751666324304	0.00674	0.02909869	-1.81954680037607	0.00699	0.03111026	1.27382114649005E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	-1.17	0.09152	-1.039000	0.03660	.	.	0.339000	0.19733	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3123:0.6877:0.0:0.0	5.701	0.17152	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	76.33	108	chr22	15528543	.	C	T	76.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.415;DP=1332;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26;MQRankSum=-0.916;QD=0.71;ReadPosRankSum=0.091;SOR=0.247	GT:AD:DP:GQ:PL	0/1:94,14:108:90:90,0,2545	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,89:209:99:.:.:2075,0,3129:.	2	12	5	0
chr22	19183561	19183561	-	T	exonic	CLTCL1	.	frameshift insertion	CLTCL1:NM_001835:exon29:c.4484dupA:p.L1496Vfs*23,CLTCL1:NM_007098:exon30:c.4655dupA:p.L1553Vfs*23	.	411	1109	2	0	0	2	0.000900901	.	.	.	729009	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0005	0.0004	0.0010	0	0	0.0006	0.0034	0	0.0004398	68	154602	rs375471950	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	0.0004	0.0009	0.0022	0	1.881e-05	0.0033	0.0003	0.0009	0	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0008	0.0007	0.0003	0	0.0012	0.0014	0	0	0.0068	0.0004	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005539	0.025253	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2134.29	186	chr22	19183561	.	C	CT	2134.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=851;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.212;SOR=0.768	GT:AD:DP:GQ:PL	0/1:110,76:186:99:2148,0,3346	18	0	1	0
chr22	19981659	19981659	C	T	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon5:c.G448A:p.D150N	.	0	1515	6	1	0	8	0.00263331	.	.	.	705796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0554822448255	0.0030	0.00139776	0.0027	0.0008	0.0013	0	0.0009	0.0045	0	0	0.002652	410	154602	rs113625788	0.0038	0.0038	0.0038	0.0037	0.0046	0.0037	0.0037	0.0045	0.0044	0.0004	0.0014	0.0002	0	0.0021	0.0003	0.0046	0.0033	0.0002	0.0020	0.0020	0.0024	0.0016	0.0036	0.0018	0.0018	0.0033	0.0031	0.0006	0	0.0014	0.0003	0	0.0012	0	0.0036	0.0019	0	0.007	0.61437	D	0.337	0.46862	T	0.982	0.60036	D	0.612	0.51145	P	0.260759	0.15320	N	0.613774	0.999985	0.54805	D	1.28	0.32218	L	1.53	0.30401	T	-1.47	0.35991	N	0.355	0.41754	-0.9901	0.32576	T	0.117	0.41209	T	9	0.007997036	0.00181	T	0.055482	0.66251	D	0.079	0.23065	.	.	0.461323234107	0.45759	0.48425235387603527	0.48345	0.296881417285	0.32077	0.589972674847	0.51490	T	0.040296	0.25480	T	-0.41473	0.01850	T	-0.367554	0.37174	T	0.0378085976459041	0.03299	T	0.982402	0.94177	D	0.14900807	0.33991	0.0911852	0.21425	0.14900807	0.33991	0.0911852	0.21424	-7.086	0.54659	T	.	.	0.130	0.39099	B	.;.;.;.	.;.;.;.	5.237874	0.87926	29.4	0.99893275220940592	0.96666	0.98331	0.81705	D	AEFBI	0.890702	0.82599	D	0.543836192081339	0.69708	5.39544	0.549411392286044	0.71357	5.642444	0.999999999999977	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.43	4.43	0.52967	7.473000	0.80010	7.661000	0.64234	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.601	0.87926	754	0.51307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1882.33	141	chr22	19981659	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=855;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.815;SOR=0.82	GT:AD:DP:GQ:PL	0/1:63,78:141:99:1896,0,1497	18	0	1	0
chr22	20094770	20094770	A	G	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon8:c.A1664G:p.K555R,DGCR8:NM_022720:exon9:c.A1763G:p.K588R	.	410	1080	30	2	0	34	0.0154968	.	.	.	2821944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.157	0.0256118393623	0.0070	0.00339457	0.0060	0.0013	0.0033	0	0.0041	0.0083	0.0077	0.0058	0.0059702	923	154602	rs35569747	0.0074	0.0074	0.0073	0.0075	0.0154	0.0073	0.0072	0.0129	0.0119	0.0009	0.0047	0.0144	2.519e-05	0.0037	0.0154	0.0079	0.0084	0.0069	0.0054	0.0054	0.0059	0.0048	0.0078	0.0051	0.0050	0.0069	0.0067	0.0013	0.0066	0.0078	0.0115	0.0002	0.0046	0.0170	0.0074	0.0104	0.0035	0.13	0.31987	T	0.18	0.29442	T	0.985	0.68779	D	0.637	0.78936	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.4	0.33630	T	-0.7	0.21215	N	0.426	0.47301	-0.9752	0.36082	T	0.130	0.44028	T	10	0.0076841116	0.00175	T	0.025612	0.48570	D	0.157	0.40909	.	.	0.389984549148	0.38611	0.4073866396673601	0.40654	1.8671837485	0.92471	0.765044927597	0.76682	T	0.182182	0.53411	T	-0.393458	0.02555	T	-0.332684	0.41169	T	0.0218102442706932	0.00888	T	0.943306	0.78595	D	0.14382163	0.33039	0.18520966	0.41620	0.14382163	0.33039	0.18520966	0.41619	-5.532	0.42166	T	.	.	0.117	0.23570	B	.;.;.	.;.;.	4.787177	0.77651	26.7	0.99878657614916455	0.95491	0.98176	0.80261	D	AEFBHCI	0.894824	0.83422	D	0.645528606152984	0.76081	6.42092	0.690430907318687	0.81653	7.576989	0.999999999999967	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.941000	0.92488	11.286000	0.91899	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.836	0.78574	538	0.73119	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.015152	0.013587	0.023392	0.000000	0.000000	0.006098	0.011364	0.05263	1235.83	63	chr22	20094770	.	A	G	1235.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.909;DP=697;ExcessHet=0.119;FS=1.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.8;SOR=0.818	GT:AD:DP:GQ:PL	0/1:36,27:63:99:577,0,986	17	0	2	0
chr22	20976743	20976743	C	T	exonic	AIFM3	.	nonsynonymous SNV	AIFM3:NM_001018060:exon12:c.C1123T:p.R375C,AIFM3:NM_001146288:exon12:c.C1141T:p.R381C,AIFM3:NM_144704:exon12:c.C1123T:p.R375C	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	.	0.0062	0.00179712	0.0067	0.0018	0.0009	0	0.0030	0.0093	0.0114	0.0072	0.0055303	855	154602	rs139501949	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0015	0.0013	0.0026	2.529e-05	0.0023	0.0023	0.0096	0.0062	0.0074	0.0046	0.0046	0.0049	0.0042	0.0078	0.0043	0.0042	0.0073	0.0070	0.0015	0	0.0025	0.0049	0	0.0021	0	0.0078	0.0028	0.0039	0.021	0.55530	D	0.024	0.56640	D	0.995	0.67487	D	0.892	0.63276	P	0.000841	0.41547	D	0.201882	0.999981	0.54805	D	2.27	0.64531	M	0.36	0.57880	T	-3.79	0.71639	D	0.485	0.55106	-0.6625	0.62166	T	0.195	0.54855	T	10	0.015613288	0.00328	T	.	.	.	0.334	0.65620	.	.	0.723872044702	0.72143	0.746189120976417	0.74564	1.21594706112	0.80967	.	.	.	0.258872	0.63008	T	-0.338692	0.05480	T	-0.248896	0.49924	T	0.0220957097683878	0.00919	T	0.981352	0.93643	D	0.17457724	0.38270	0.17082462	0.39220	0.17457724	0.38269	0.17082462	0.39219	-13.225	0.91688	D	.	.	0.279	0.54153	B	.;.;.;.	.;.;.;.	5.260253	0.88323	29.6	0.99895128136394651	0.96819	0.96283	0.68385	D	AEFBI	0.836664	0.75439	D	0.388352822415862	0.60791	4.271954	0.29129170253586	0.55029	3.666537	0.455102180305506	0.20575	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.55	2.24	0.27264	3.985000	0.56640	4.985000	0.46489	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.5182:0.4817:0.0:0.0	9.604	0.38789	934	0.15400	FAD/NAD(P)-binding domain;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001362	0.002924	0.050000	0.000000	0.003049	0.015152	0.02632	1613.33	122	chr22	20976743	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.698;DP=804;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.641;SOR=0.608	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1627,0,1715	18	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	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:20,4:24:85:85,0,500	5	0	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:65,27:92:99:938,0,2648	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:54,13:67:99:222,0,1415	9	0	10	0
chr22	23315516	23315516	A	T	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon22:c.A3678T:p.E1226D,BCR:NM_004327:exon23:c.A3810T:p.E1270D	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.00893527500019	.	0.000998403	0.0009	0.0013	0.0005	0.0029	0.0003	0.0009	0.0011	0.0003	0.0009379	145	154602	rs201098494	0.0003	0.0004	0.0003	0.0003	0.0057	0.0003	0.0003	0.0051	0.0048	8.977e-05	0.0004	0.0003	0.0057	1.878e-05	0.0002	0.0002	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.622e-05	0	0.0008	0.0003	0.0027	0	0.0034	0.0002	0	0.0002	0.369	0.11807	T	0.605	0.11299	T	0.0	0.27697	B	0.001	0.27082	B	0.000000	0.84330	D	0.000000	0.99983	0.49637	D	1.04	0.26193	L	1.54	0.30133	T	-0.01	0.07736	N	0.147	0.22614	-1.0553	0.12961	T	0.031	0.13504	T	10	0.009973288	0.00223	T	0.008935	0.23535	T	0.215	0.50805	0.143	0.04650	0.586967713095	0.58371	0.3649300033466368	0.36406	0.0822081401259	0.09269	0.742175459862	0.73292	T	0.168269	0.51521	T	-0.445366	0.01203	T	-0.416817	0.31440	T	0.00978729129027649	0.00129	T	0.716728	0.32905	T	0.29192597	0.52171	0.10352055	0.24841	0.29192597	0.52171	0.10352055	0.24841	-3.274	0.14338	T	.	.	0.406	0.59893	A	.;.	.;.	1.913522	0.24300	16.35	0.98401581359366375	0.41073	0.92295	0.55383	D	AEFDBHCI	0.365346	0.45355	N	-0.670185459092838	0.16874	0.8635841	-0.514446906045861	0.21761	1.178712	0.620904576602281	0.21884	0.722319	0.85440	0	0.635938	0.57008	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	4.72	2.57	0.29928	0.527000	0.22695	0.242000	0.16320	-0.105000	0.15698	0.998000	0.41325	0.312000	0.24278	0.107000	0.18608	0.6795:0.0:0.3205:0.0	6.362	0.20640	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	.	.	.	.	.	.	.	.	0.02632	1254.33	109	chr22	23315516	.	A	T	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=790;ExcessHet=0;FS=1.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.856;SOR=0.858	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1268,0,1399	18	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4896.79	155	chr22	23765457	.	G	A	4896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.31;DP=945;ExcessHet=0.3672;FS=3.316;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.788;SOR=0.857	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1978,0,2126	16	0	3	0
chr22	24064143	24064143	C	T	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon14:c.C1843T:p.R615W,CABIN1:NM_001199281:exon15:c.C1993T:p.R665W,CABIN1:NM_012295:exon15:c.C1993T:p.R665W	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0223060488401	0.0006	0.000599042	0.0008	9.614e-05	0.0002	0	0	0.0004	0.0011	0.0045	0.0007244	112	154602	rs138795791	0.0007	0.0007	0.0005	0.0008	0.0043	0.0007	0.0006	0.0040	0.0038	0.0001	0.0002	0	2.519e-05	0	0.0017	0.0005	0.0004	0.0043	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0.0003	0	0.0003	0	0	0	0	0.0005	0.0005	0.0025	0.011	0.55530	D	0.008	0.69154	D	0.999	0.77913	D	0.642	0.52168	P	0.000000	0.84330	D	0.049852	0.990441	0.41777	D	1.7	0.43825	L	1.29	0.35775	T	-3.04	0.62863	D	0.585	0.66700	-0.9843	0.33998	T	0.139	0.45715	T	10	0.014355034	0.00302	T	0.022306	0.45185	T	0.213	0.50496	.	.	0.681992695218	0.67928	0.4385320650137147	0.43770	0.967238908264	0.73233	0.373595118523	0.21347	T	0.517226	0.83048	D	-0.28472	0.10174	T	-0.182277	0.56313	T	0.21949902176857	0.21439	T	0.933707	0.75759	D	0.24375682	0.47317	0.19288099	0.42827	0.24375682	0.47317	0.19288099	0.42826	-8.358	0.63898	D	.	.	0.115	0.23360	B	.;.;.;.	.;.;.;.	4.743692	0.76522	26.5	0.9993326999675135	0.99488	0.92878	0.56768	D	AEFDBI	0.705080	0.66058	D	0.53036442072464	0.68895	5.280488	0.554173565206398	0.71687	5.693175	0.970451380309075	0.29209	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.63	0.57175	2.148000	0.41859	3.091000	0.36279	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.2739:0.7261:0.0:0.0	13.011	0.58135	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1747.33	155	chr22	24064143	.	C	T	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=787;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=2.53;SOR=0.439	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1761,0,2010	18	0	1	0
chr22	26004767	26004767	T	C	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon42:c.T6385C:p.W2129R,MYO18B:NM_032608:exon42:c.T6382C:p.W2128R	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	415	1102	5	0	0	5	0.00226347	.	.	.	1557822	not_provided|MYO18B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.500	.	.	0.00239617	0.0008	0	0	0	0	0	0	0.0055	0.0006662	103	154602	rs551773968	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	5.975e-05	2.236e-05	0	0	0	0	1.799e-06	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.072	0.43344	T	1.0	0.90584	D	0.998	0.88582	D	0.775368	0.09514	N	0.882142	0.737613	0.33787	D	2.045	0.56016	M	-2.63	0.90210	D	-9.25	0.98277	D	0.835	0.86833	0.602	0.91923	D	0.810	0.93583	D	10	0.022414297	0.00559	T	.	.	.	0.500	0.78350	0.346	0.34112	0.946265207332	0.94569	0.5852883680781582	0.58458	0.519879735987	0.49802	0.616622388363	0.55251	T	0.524034	0.83408	D	-0.137969	0.30214	T	0.0306839	0.72322	D	0.265492768907556	0.23553	T	0.577942	0.20808	T	0.70133585	0.78130	0.6830781	0.81371	0.76449615	0.81721	0.7505464	0.85256	-1.371	0.01520	T	.	.	0.730	0.77089	P	.;.;.	.;.;.	4.659153	0.74342	26.1	0.99617405926884328	0.75172	0.83510	0.42622	D	AEFGBI	0.614048	0.60151	D	0.574870602645145	0.71607	5.676938	0.519523438971325	0.69303	5.341397	0.990054247789582	0.32023	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.173000	0.58043	7.560000	0.60459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	9.847	0.40200	917	0.20147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2336.33	211	chr22	26004767	.	T	C	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.113;DP=838;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=2.11;SOR=0.84	GT:AD:DP:GQ:PL	0/1:107,104:211:99:2350,0,2794	18	0	1	0
chr22	27983494	27983494	C	T	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173A:p.G2058E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.224313885129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195986563	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.035	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	D	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.59	0.94975	D	-2.55	0.55181	D	0.804	0.79986	0.916	0.95895	D	0.856	0.95214	D	10	0.59165335	0.66414	D	0.224314	0.87943	D	0.556	0.81717	0.224	0.14813	0.756568482176	0.75436	0.5476092341175837	0.54686	.	.	0.647781968117	0.59671	T	0.103847	0.41288	T	0.342981	0.86037	D	0.254892	0.85854	D	0.977077484130859	0.71674	D	0.981302	0.93576	D	0.492473	0.66650	0.6240618	0.78091	0.492473	0.66650	0.6240618	0.78091	-0.742	0.00754	T	.	.	0.920	0.84176	P	.;.	.;.	4.595584	0.72728	25.9	0.99752098067145145	0.84382	0.98722	0.86019	D	AEFDBI	0.796825	0.72384	D	0.598580912102731	0.73085	5.908996	0.582186483983672	0.73663	6.007507	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	376.54	96	chr22	27983494	.	C	T	376.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,10:96:74:.:.:207,0,2877:.	13	0	1	5
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,20:98:99:0|1:27983493_C_G:280,0,2874:27983493	3	0	6	10
chr22	29511293	29511293	T	G	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon19:c.A1801C:p.M601L,THOC5:NM_003678:exon19:c.A1801C:p.M601L,THOC5:NM_001002877:exon20:c.A1801C:p.M601L,THOC5:NM_001002878:exon20:c.A1801C:p.M601L	.	435	1085	1	1	0	3	0.00138058	.	.	.	4091580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0104048577758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437644967	2.743e-06	2.736e-06	2.729e-06	2.758e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	0	1.16e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.201	0.20306	T	0.549	0.09457	T	0.01	0.15535	B	0.007	0.12992	B	0.000000	0.84330	D	0.032160	1	0.81001	D	1.95	0.52479	M	1.91	0.23283	T	-0.74	0.20791	N	0.563	0.59138	-1.1042	0.03620	T	0.075	0.30117	T	10	0.35957536	0.52622	T	0.010405	0.26893	T	0.133	0.36157	0.559	0.67821	0.351614576976	0.34778	0.6717363949684716	0.67111	0.362262837996	0.37885	0.787687897682	0.80091	T	0.088535	0.38180	T	-0.0761516	0.40338	T	-0.347163	0.39530	T	0.499372959136963	0.32606	T	0.825817	0.48860	T	0.28575683	0.51595	0.22275063	0.47130	0.28575683	0.51595	0.22275063	0.47129	-6.955	0.53705	T	.	.	0.245	0.48345	B	.;.;.;.	.;.;.;.	2.632698	0.34238	19.57	0.94297167144645855	0.24605	0.99558	0.97425	D	AEFDBI	0.803341	0.72851	D	0.0451435559783765	0.43918	2.675572	0.206425268535518	0.50203	3.214888	0.999998592282411	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	6.024000	0.70506	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.0:1.0	16.261	0.82367	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1252.33	91	chr22	29511293	.	T	G	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=717;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=2.16;SOR=0.926	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1266,0,981	18	0	1	0
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025918	0.015152	0.014577	0.066434	0.000000	0.056604	0.012579	0.031250	0.02632	1388.33	117	chr22	30538899	.	G	A	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=1581;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.912;SOR=0.693	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1402,0,1751	18	0	1	0
chr22	30893490	30893490	G	C	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon8:c.G650C:p.S217T,OSBP2:NM_001282740:exon9:c.G917C:p.S306T,OSBP2:NM_001282741:exon9:c.G1244C:p.S415T,OSBP2:NM_001282739:exon10:c.G2015C:p.S672T,OSBP2:NM_030758:exon10:c.G2018C:p.S673T,OSBP2:NM_001282738:exon11:c.G1520C:p.S507T	.	429	1036	55	2	0	59	0.0276865	.	.	.	705879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0058	0.00559105	0.0075	0.0014	0.0054	0.0008	0.0027	0.0084	0.0067	0.0146	0.0074514	1152	154602	rs35988107	0.0075	0.0075	0.0072	0.0078	0.0203	0.0074	0.0073	0.0173	0.0162	0.0011	0.0039	0.0018	0.0008	0.0030	0.0203	0.0079	0.0066	0.0146	0.0047	0.0047	0.0048	0.0047	0.0137	0.0044	0.0043	0.0110	0.0101	0.0010	0	0.0025	0.0029	0.0012	0.0026	0.0170	0.0076	0.0038	0.0137	0.551	0.11406	T	0.627	0.11371	T	0.722	0.52538	P	0.646	0.53442	P	0.000000	0.84330	D	0.039087	1	0.81001	D	0.82	0.20857	L	1.62	0.28189	T	-1.82	0.43149	N	0.436	0.57775	-0.9404	0.42552	T	0.137	0.45260	T	10	0.009020358	0.00204	T	.	.	.	0.115	0.32236	.	.	0.616152070139	0.61304	0.47219143401444963	0.47138	1.33722759673	0.83768	0.670831441879	0.62956	T	0.01501	0.24677	T	-0.396612	0.02437	T	-0.330158	0.41451	T	0.023354836228443	0.01065	T	0.689931	0.30012	T	0.3401212	0.56290	0.2671612	0.52570	0.3401212	0.56290	0.2671612	0.52569	-10.391	0.77845	D	.	.	0.072	0.17827	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.192385	0.63195	24.6	0.9215383385114102	0.21514	0.98338	0.81774	D	AEFBI	0.662016	0.63203	D	0.296042627887522	0.55947	3.758913	0.410878477034044	0.62240	4.436314	0.999999818104789	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.663124	0.60104	0	0.683762	0.67416	0	.	.	5.19	5.19	0.71428	4.024000	0.56928	4.518000	0.43675	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.501	0.90829	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	0.015609	0.005051	0.008152	0.043860	0.000000	0.017241	0.024390	0.018939	0.07895	6852.77	161	chr22	30893490	.	G	C	6852.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.113;DP=907;ExcessHet=0;FS=0.527;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.07;ReadPosRankSum=-1.84;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,161:161:99:5096,480,0	17	1	1	0
chr22	30893904	30893904	A	G	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon10:c.A910G:p.M304V,OSBP2:NM_001282740:exon11:c.A1177G:p.M393V,OSBP2:NM_001282741:exon11:c.A1504G:p.M502V,OSBP2:NM_001282739:exon12:c.A2275G:p.M759V,OSBP2:NM_030758:exon12:c.A2278G:p.M760V,OSBP2:NM_001282738:exon13:c.A1780G:p.M594V	.	420	1044	56	2	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0060	0.00599042	0.0133	0.0028	0.0158	0.0018	0.0046	0.0149	0.0086	0.0189	0.0069921	1081	154602	rs34240867	0.0077	0.0077	0.0073	0.0080	0.0206	0.0075	0.0075	0.0176	0.0164	0.0024	0.0039	0.0018	0.0008	0.0029	0.0206	0.0079	0.0070	0.0159	0.0050	0.0050	0.0050	0.0050	0.0168	0.0047	0.0046	0.0138	0.0127	0.0017	0	0.0025	0.0029	0.0012	0.0027	0.0170	0.0076	0.0038	0.0168	0.999	0.02412	T	0.992	0.02917	T	0.0	0.02946	B	0.001	0.04355	B	0.107638	0.19562	N	0.526269	0.999863	0.19989	N	-0.625	0.02162	N	1.61	0.28391	T	1.2	0.01213	N	0.07	0.06854	-1.0257	0.21853	T	0.015	0.06234	T	10	0.0027489364	0.00043	T	.	.	.	0.017	0.02790	.	.	0.303781844768	0.29979	0.1894865147558149	0.18866	0.559266118896	0.52473	0.47786283493	0.35762	T	0.001929	0.10097	T	-0.644937	0.00078	T	-0.68621	0.06611	T	0.000873943526979934	0.00008	T	0.122088	0.00949	T	0.04647788	0.07784	0.05229954	0.08589	0.04647788	0.07783	0.05229954	0.08588	3.517	0.00015	T	.	.	0.045	0.00165	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.214570	0.05978	2.417	0.75529492578270707	0.11110	0.29702	0.23891	N	AEFBI	0.055078	0.10069	N	-1.07926312379528	0.07026	0.3251849	-0.916998914620541	0.11693	0.5972872	0.930902025339493	0.27026	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.26	1.95	0.25130	0.880000	0.27798	0.945000	0.22881	-0.103000	0.15852	0.613000	0.27855	0.340000	0.24418	0.515000	0.29359	0.2081:0.1218:0.6701:0.0	7.269	0.25420	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	1	0	0	0	0.016129	0.005102	0.008152	0.043860	0.000000	0.017241	0.024390	0.022727	0.07895	7269.77	180	chr22	30893904	.	A	G	7269.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.453;DP=914;ExcessHet=0;FS=0.571;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.84;ReadPosRankSum=1.23;SOR=0.613	GT:AD:DP:GQ:PL	1/1:0,180:180:99:5356,540,0	17	1	1	0
chr22	31291079	31291079	C	T	exonic	PIK3IP1	.	nonsynonymous SNV	PIK3IP1:NM_001135911:exon3:c.G193A:p.G65S,PIK3IP1:NM_052880:exon3:c.G193A:p.G65S	.	431	1030	55	6	0	67	0.0314998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	.	0.0007	0.00439297	0.0091	0	0.0080	0.0036	0	0.0055	0	0.0156	0.0026002	402	154602	rs202173016	0.0026	0.0026	0.0022	0.0031	0.0222	0.0026	0.0025	0.0190	0.0178	0.0004	0.0034	0.0047	0.0051	0.0002	0.0222	0.0015	0.0033	0.0160	0.0023	0.0023	0.0021	0.0026	0.0155	0.0021	0.0020	0.0127	0.0117	0.0003	0	0.0022	0.0043	0.0074	0	0.0342	0.0024	0.0047	0.0155	0.004	0.91255	D	0.051	0.52727	T	0.98	0.90584	D	0.611	0.65091	P	0.000104	0.50451	D	0.175513	0.999974	0.81001	D	3.02	0.86243	M	-0.17	0.65563	T	-4.07	0.76496	D	0.215	0.32370	-0.0334	0.81558	T	0.384	0.73973	T	10	0.009329677	0.00211	T	.	.	.	0.403	0.71636	.	.	0.749776601627	0.74751	0.7603611679632968	0.75984	0.382706904123	0.39604	0.650790691376	0.60097	T	0.115178	0.43357	T	-0.285853	0.10055	T	-0.17106	0.57346	T	0.0466222905835135	0.04897	T	0.781022	0.42156	T	0.3876658	0.59866	0.40144095	0.64653	0.3876658	0.59866	0.40144095	0.64653	-7.248	0.55825	T	.	.	0.114	0.27343	B	.;.;.;.	.;.;.;.	3.757563	0.53892	23.4	0.99806655210183426	0.89085	0.95870	0.66508	D	ALL	0.327645	0.42855	N	0.545197202699587	0.69791	5.407308	0.438971757169375	0.64013	4.646895	1.0	0.98316	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	4.69	4.69	0.58546	2.870000	0.48150	0.775000	0.21430	0.549000	0.26987	0.988000	0.36536	0.214000	0.23665	0.544000	0.30032	0.0:1.0:0.0:0.0	15.260	0.73313	293	0.88320	Kringle|Kringle|Kringle|Kringle;.;.;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024352	0.015957	0.013774	0.027108	0.000000	0.035088	0.044872	0.032000	0.02632	1296.33	101	chr22	31291079	.	C	T	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=769;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.466;SOR=0.502	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1310,0,1080	18	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	3097.37	197	chr22	36265782	.	G	T	3097.37	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.003;DP=2840;ExcessHet=1.3;FS=138.063;InbreedingCoeff=-0.171;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.24;SOR=11.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:159,38:197:99:.:.:140,0,4227:.	13	0	5	1
chr22	39025668	39025668	T	G	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_152426:exon4:c.T602G:p.L201R	.	.	.	.	.	.	.	.	.	.	.	3464018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0164720024081	.	.	4.942e-05	0	0	0	0	8.991e-05	0	0	3.88e-05	6	154602	rs758212292	2.668e-05	2.668e-05	2.586e-05	2.75e-05	0.0033	1.997e-05	1.754e-05	0.0022	0.0018	0	0	0	0	0	0.0033	1.259e-05	9.935e-05	0	1.315e-05	1.313e-05	0	2.692e-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	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.854	0.60866	P	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.22	0.66474	T	-5.01	0.82450	D	0.43	0.46928	-0.8493	0.52017	T	0.262	0.63264	T	9	0.43628725	0.57814	T	0.016472	0.37742	T	0.238	0.54217	0.697	0.83406	0.326345978581	0.32251	0.5009190237559433	0.50013	0.385891351295	0.39878	0.505761861801	0.39630	T	0.356965	0.72374	T	-0.0243066	0.48238	T	-0.0810087	0.64830	T	0.313861044729907	0.25572	T	0.669433	0.27806	T	0.7091172	0.78559	0.6276916	0.78290	0.7091172	0.78561	0.6276916	0.78291	-4.067	0.24802	T	.	.	0.207	0.44643	B	.;.	.;.	2.598714	0.33727	19.42	0.99264149090598885	0.57322	0.04400	0.09985	N	AEFBI	0.040799	0.06120	N	-0.411462036214228	0.25066	1.358009	-0.653432655746747	0.18130	0.9671546	0.996645740120915	0.34891	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	2.44	1.33	0.20958	1.031000	0.29773	-1.697000	0.04895	0.632000	0.51917	0.010000	0.18352	0.000000	0.08366	0.033000	0.13494	0.2888:0.0:0.0:0.7112	4.548	0.11488	350	0.85473	.;Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4628.33	374	chr22	39025668	.	T	G	4628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=1036;ExcessHet=0;FS=0.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.147;SOR=0.637	GT:AD:DP:GQ:PL	0/1:189,185:374:99:4642,0,4900	18	0	1	0
chr22	39052233	39052233	A	G	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_145298:exon6:c.A883G:p.S295G	.	402	1118	2	0	0	2	0.000893655	.	.	.	2456770	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.031898154764	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001035	16	154602	rs151229697	5.062e-05	5.062e-05	4.764e-05	5.363e-05	0.0003	4.125e-05	3.778e-05	0.0002	0.0002	0	0	0.0008	0	0	0	1.529e-05	0.0001	0.0003	4.599e-05	4.596e-05	5.139e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0.0002	0.113	0.28772	T	0.316	0.19362	T	0.961	0.55431	D	0.676	0.53321	P	.	.	.	.	1	0.21346	N	2.025	0.55430	M	-0.04	0.63240	T	-1.89	0.44094	N	0.049	0.02088	-0.7707	0.56820	T	0.205	0.56321	T	9	0.05617079	0.06254	T	0.031898	0.53866	D	0.193	0.47281	.	.	0.471778926243	0.46806	0.0887158821588344	0.08804	0.591036329476	0.54550	0.301786571741	0.10667	T	0.006186	0.05627	T	-0.428602	0.01511	T	-0.593754	0.13343	T	0.0832035512842411	0.10391	T	0.167583	0.01563	T	0.16518688	0.36774	0.23087206	0.48202	0.16518688	0.36773	0.23087206	0.48201	-5.989	0.46188	T	.	.	0.084	0.09627	B	.	.	0.034894	0.04527	1.224	0.90160289893740408	0.19438	0.01470	0.04904	N	AEFDGBI	0.066327	0.12983	N	-0.992757457919468	0.08757	0.4118644	-1.2799954953458	0.04701	0.2223724	0.994618238400915	0.33720	0.706298	0.61202	0	0.643519	0.57511	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	2.79	-5.57	0.02321	-0.091000	0.11111	-20.000000	0.00162	-1.496000	0.01037	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1529:0.7389:0.1082:0.0	11.556	0.50001	344	0.85734	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase 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	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4711.33	418	chr22	39052233	.	A	G	4711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.135;DP=1048;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.19;MQRankSum=-1.152;QD=11.27;ReadPosRankSum=-0.859;SOR=0.742	GT:AD:DP:GQ:PL	0/1:217,201:418:99:4725,0,5734	18	0	1	0
chr22	42556563	42556563	C	T	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.C206T:p.T69M,SERHL2:NM_014509:exon6:c.C398T:p.T133M	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0009	.	0.0028	0.0002	0.0016	0.0002	0	0.0011	0.0022	0.0149	0.0022639	350	154602	rs138994162	0.0012	0.0015	0.0010	0.0014	0.0082	0.0012	0.0012	0.0077	0.0075	0.0003	0.0014	0.0033	0.0001	0	0.0016	0.0007	0.0017	0.0082	0.0008	0.0009	0.0006	0.0011	0.0091	0.0007	0.0007	0.0069	0.0061	7.258e-05	0	0.0006	0.0044	0	0	0	0.0008	0.0005	0.0091	0.048	0.42783	D	0.078	0.47828	T	0.191	0.29470	B	0.08	0.28873	B	0.286036	0.14856	N	0.674587	1	0.08975	N	.	.	.	-0.33	0.68329	T	-1.9	0.50012	N	0.169	0.21449	-0.9814	0.34678	T	0.159	0.49313	T	10	0.0051770806	0.00113	T	.	.	.	0.198	0.48105	.	.	0.411531665326	0.40769	0.6804990556788537	0.67988	1.16575227399	0.79615	0.281120538712	0.07648	T	0.013722	0.11817	T	-0.38328	0.02971	T	-0.31594	0.43019	T	0.00802689277242401	0.00095	T	0.822518	0.48813	T	0.020715497	0.00640	0.045029864	0.05968	0.020715497	0.00640	0.045029864	0.05967	-7.259	0.55903	T	.	.	0.152	0.34383	B	.;.;.;.	.;.;.;.	2.160353	0.27526	17.49	0.99585961244755994	0.73277	0.07144	0.13169	N	AEFGI	0.060756	0.11569	N	-0.883607810607181	0.11232	0.5409406	-0.970336476334684	0.10455	0.5266819	0.305673957486034	0.19235	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.1	2.08	0.26079	0.655000	0.24618	1.492000	0.26896	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.1656:0.5716:0.1618:0.101	3.632	0.07678	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012821	0.02632	1025.33	108	chr22	42556563	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=809;ExcessHet=0;FS=27.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.33;MQRankSum=-0.346;QD=9.49;ReadPosRankSum=2.68;SOR=0.958	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1039,0,1286	18	0	1	0
chr22	44916594	44916594	C	T	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon4:c.G214A:p.V72I,PHF21B:NM_138415:exon4:c.G250A:p.V84I,PHF21B:NM_001135862:exon5:c.G250A:p.V84I	.	421	1088	12	1	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0104042366725	0.0043	0.00179712	0.0036	0.0009	0.0035	0	0.0027	0.0051	0.0058	0.0015	0.003965	613	154602	rs138308961	0.0049	0.0049	0.0049	0.0048	0.0076	0.0048	0.0048	0.0058	0.0055	0.0010	0.0034	0.0036	0.0001	0.0027	0.0076	0.0056	0.0042	0.0015	0.0039	0.0039	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0010	0	0.0037	0.0052	0.0010	0.0025	0.0034	0.0064	0.0024	0.0023	0.213	0.19430	T	1.0	0.03286	T	0.002	0.09854	B	0.001	0.04355	B	0.525238	0.11697	N	0.752021	1	0.08975	N	-0.695	0.01866	N	1.79	0.26588	T	-0.48	0.15379	N	0.09	0.06854	-0.9591	0.39349	T	0.017	0.07187	T	10	0.0038067102	0.00071	T	0.010404	0.26893	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.1004894143022053	0.09979	0.221649798542	0.24701	0.321861863136	0.13703	T	0.002552	0.01944	T	-0.573847	0.00210	T	-0.593343	0.13378	T	0.00159362167491895	0.00016	T	0.708829	0.33695	T	0.027578209	0.01969	0.025226051	0.00561	0.027578209	0.01969	0.025226051	0.00561	-4.674	0.33088	T	.	.	0.075	0.09530	B	.;.;.;.	.;.;.;.	0.112492	0.05115	1.646	0.7899496041791233	0.12543	0.27577	0.23316	N	AEFDBI	0.052872	0.09477	N	-1.13130737173451	0.06093	0.2795663	-1.02488837871269	0.09239	0.4585332	0.996356704372072	0.34689	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.06	-4.81	0.02948	0.705000	0.25350	-5.986000	0.01532	-0.828000	0.02899	0.994000	0.38300	0.000000	0.08366	0.908000	0.44358	0.0:0.2463:0.1133:0.6404	8.736	0.33686	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	0.004545	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	464.33	44	chr22	44916594	.	C	T	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=697;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.728;SOR=0.914	GT:AD:DP:GQ:PL	0/1:26,18:44:99:478,0,593	18	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5161.29	82	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5161.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.299;DP=1193;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.471;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,82:82:99:.:.:3640,249,0:.	15	1	3	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,82:82:99:.:.:3640,249,0:.	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,82:82:99:.:.:3640,249,0:.	13	1	4	1
chrX	3323097	3323097	A	G	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.T2588C:p.M863T	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0145978368337	9.5e-05	0.000264901	0.0005	0	0.0001	0	0	0.0001	0	0.0040	0.0005175	80	154602	rs373025245	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0036	0.0034	3.787e-05	0.0003	0	0	0	0.0019	4.987e-05	0.0002	0.0040	0.0001	0.0002	0.0001	0.0002	0.0034	8.965e-05	7.243e-05	0.0018	0.0013	0	0	0.0002	0	0	0	0	7.525e-05	0.0007	0.0034	0.368	0.11623	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.115839	0.02681	N	2.067570	1	0.08975	N	0	0.06538	N	0.13	0.60973	T	-0.74	0.20791	N	0.013	0.00142	-1.0527	0.13655	T	0.078	0.31012	T	10	0.005004823	0.00108	T	0.014598	0.34823	T	0.047	0.12962	.	.	0.286465849087	0.28247	0.3793392701731815	0.37848	0.0713716190818	0.07990	0.260423004627	0.04940	T	3.12E-4	0.00083	T	-0.746365	0.00019	T	-0.845716	0.01016	T	0.00624238224621952	0.00069	T	0.374863	0.08927	T	0.053816892	0.10237	0.103302434	0.24781	0.053816892	0.10237	0.103302434	0.24781	-1.647	0.02094	T	.	.	0.088	0.11845	B	.	.	-1.542659	0.00270	0.004	0.17313755133539535	0.00500	0.00190	0.01102	N	AEFBI	.	.	.	.	.	.	.	.	.	0.927523827774459	0.26892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63	-7.27	0.01312	-0.513000	0.06389	-2.277000	0.03961	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1284:0.3515:0.4019:0.1183	4.361	0.10637	1000	0.00083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1869.33	192	chrX	3323097	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=1883;ExcessHet=0;FS=8.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.979;SOR=0.951	GT:AD:DP:GQ:PL	0/1:114,78:192:99:1883,0,3071	18	0	1	0
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4831.29	471	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	4831.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.358;DP=2369;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.85;MQRankSum=-2.873;QD=10.26;ReadPosRankSum=-0.296;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,180:471:99:0|1:7843856_TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:4845,0,10448:7843856	18	0	1	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	114544.0	389	chrX	7843976	.	C	*	114544.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.75;DP=5332;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=3;MLEAF=0.079;MQ=49.19;MQRankSum=-10.87;QD=22.4;ReadPosRankSum=1.33;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,179:389:99:.:.:12699,5630,7280:.	16	0	3	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,32:171:71:.:.:71,0,3081:.	8	0	10	1
chrX	12721145	12721145	G	T	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368396:exon17:c.G4582T:p.V1528F,FRMPD4:NM_001368397:exon17:c.G4576T:p.V1526F,FRMPD4:NM_001368395:exon19:c.G4687T:p.V1563F	Mental retardation, X-linked 104, X-linked recessive	579	891	35	17	0	69	0.0372771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00768212	.	.	.	.	.	.	.	.	0.0082988	216	26028	rs61739515	0.0139	0.0091	0.0140	0.0138	0.0285	0.0137	0.0136	0.0231	0.0211	0.0012	0.0020	0.0133	0.0003	0.0095	0.0285	0.0142	0.0124	0.0195	0.0089	0.0090	0.0093	0.0082	0.0154	0.0085	0.0083	0.0134	0.0131	0.0015	0	0.0049	0.0110	0	0.0085	0.0278	0.0142	0.0100	0.0154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	133.49	9	chrX	12721145	.	G	T	133.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.06;DP=101;ExcessHet=0;FS=0;InbreedingCoeff=0.1151;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.226;SOR=0.804	GT:AD:DP:GQ:PL	0/1:3,6:9:57:146,0,57	17	0	1	1
chrX	24364256	24364256	-	TGCTGCTGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGCTGCTGC:p.A543_P544insAAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0004	6.212e-05	0.0023	0.0002	0.0002	0.0018	0.0016	6.425e-05	7.48e-05	0	0.0023	0.0005	0.0006	0.0002	0.0002	7.259e-05	0.0003	0.0004	0.0003	0.0003	0.0014	0.0002	0.0002	0.0005	0.0003	0	0	0	0	0.0014	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	14085.3	83	chrX	24364256	.	T	TTGCTGCTGCTGCTGCTGCTGC	14085.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=1981;ExcessHet=0;FS=0;InbreedingCoeff=0.8721;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=34.1;ReadPosRankSum=-0.352;SOR=0.756	GT:AD:DP:GQ:PL	0/1:41,36:83:99:2157,0,1516	18	0	1	0
chrX	37009146	37009146	C	T	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.C736T:p.L246F	.	430	1069	15	8	0	31	0.0142923	.	.	.	2198186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.000885017355951	0.0018	0.0018543	0.0016	0.0006	0.0019	0	0	0.0020	0.0032	0.0020	0.001533	237	154602	rs148119466	0.0015	0.0015	0.0015	0.0017	0.0193	0.0015	0.0015	0.0159	0.0147	0.0010	0.0022	0.0080	0	9.869e-05	0.0193	0.0012	0.0031	0.0029	0.0014	0.0015	0.0014	0.0013	0.0029	0.0012	0.0011	0.0016	0.0013	0.0004	0	0.0023	0.0081	0	0	0.0191	0.0015	0.0054	0.0029	0.018	0.50676	D	0.449	0.12993	T	0.982	0.60036	D	0.844	0.60373	P	.	.	.	.	1	0.08975	N	2.865	0.83145	M	1.95	0.22474	T	-1.35	0.33598	N	0.025	0.00485	-1.0764	0.08063	T	0.061	0.25346	T	9	0.0055805445	0.00123	T	8.85E-4	0.00800	T	0.018	0.03083	.	.	0.132336055621	0.12781	0.030104899753341494	0.02959	0.707521477016	0.61494	0.451006561518	0.32081	T	0.002595	0.01984	T	-0.797379	0.00008	T	-0.924632	0.00356	T	0.0196068533088186	0.00663	T	0.464953	0.13579	T	0.09291908	0.21811	0.07451305	0.16307	0.09291908	0.21811	0.07451305	0.16307	-9.097	0.68318	D	.	.	0.229	0.46179	B	.	.	1.718270	0.21875	15.39	0.98986215283515799	0.49841	0.00124	0.00775	N	AEFBI	.	.	.	.	.	.	.	.	.	1.39867945787913E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.959	0.18747	-0.593000	0.05835	-1.989000	0.04383	0.265000	0.18437	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.628	0.16776	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015172	0.027211	0.014842	0.023715	0.000000	0.011765	0.008850	0.005263	0.02632	3383.33	312	chrX	37009146	.	C	T	3383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=968;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-0.746;QD=10.84;ReadPosRankSum=-0.64;SOR=0.628	GT:AD:DP:GQ:PL	0/1:171,141:312:99:3397,0,4273	18	0	1	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	144.97	97	chrX	43711977	.	G	C	144.97	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.222;DP=946;ExcessHet=0.3672;FS=157.29;InbreedingCoeff=-0.1703;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.46;SOR=8.229	GT:AD:DP:GQ:PL	0/1:76,21:97:28:28,0,1610	12	0	3	4
chrX	50376824	50376824	C	T	exonic	DGKK	.	nonsynonymous SNV	DGKK:NM_001013742:exon23:c.G3206A:p.S1069N	.	431	1068	13	10	0	33	0.0152144	.	.	.	729640	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00211921	0.0074	0.0008	0.0013	0	0.0090	0.0118	0.0055	0.0011	0.0067464	1043	154602	rs139988151	0.0066	0.0067	0.0067	0.0065	0.0216	0.0065	0.0065	0.0179	0.0165	0.0011	0.0015	0.0277	3.321e-05	0.0097	0.0216	0.0069	0.0071	0.0012	0.0060	0.0061	0.0062	0.0055	0.0087	0.0056	0.0055	0.0081	0.0078	0.0008	0.0058	0.0022	0.0286	0	0.0107	0.0184	0.0087	0.0059	0.0008	.	.	.	0.312	0.19599	T	0.167	0.28604	B	0.085	0.29395	B	.	.	.	.	.	.	.	2.3	0.65703	M	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.005743742	0.00128	T	.	.	.	.	.	.	.	0.16115917748	0.15686	0.42930924518674113	0.42847	.	.	0.311074793339	0.12069	T	0.017446	0.14230	T	-0.754194	0.00017	T	-0.846729	0.01002	T	.	.	.	0.162684	0.01473	T	0.060853012	0.12535	0.17762087	0.40376	0.060853012	0.12534	0.17762087	0.40375	-4.652	0.32818	T	.	.	0.081	0.08320	B	.	.	0.473818	0.08434	5.191	0.69425561152751158	0.08968	0.04135	0.09617	N	AEFGBI	.	.	.	.	.	.	.	.	.	4.50779805544434E-4	0.07004	.	.	.	.	.	.	.	.	.	.	.	.	0.205366	0.30703	5.49	1.11	0.19640	-0.228000	0.09119	0.189000	0.15722	-0.174000	0.10959	0.000000	0.06391	0.256000	0.23951	0.831000	0.39176	0.5157:0.2268:0.0:0.2575	3.322	0.06638	280	0.88949	.	.	.	.	.	.	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	0.012405	0.020408	0.018553	0.003953	0.000000	0.023529	0.004425	0.005263	0.02632	1909.33	173	chrX	50376824	.	C	T	1909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.754;DP=809;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.11;SOR=0.796	GT:AD:DP:GQ:PL	0/1:98,75:173:99:1923,0,2745	18	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:170,572:742:99:16023,0,2604	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:555,236:791:99:4739,0,15355	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:510,211:721:99:.:.:4291,0,16466:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:465,186:651:99:.:.:3888,0,15575:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:132,443:575:99:14958,0,2160	0	0	19	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,111:418:99:0|1:55146247_G_C:3655,0,12380:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,108:407:99:0|1:55146247_G_C:3580,0,12175:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:215,180:395:99:4849,0,8161	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,103:397:99:0|1:55146247_G_C:3440,0,12029:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:103,212:315:99:6993,0,2358	0	0	19	0
chrX	74741253	74741253	C	T	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.G3304A:p.V1102I	.	2	1499	16	5	0	26	0.00859788	.	.	.	959347	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0968984578157	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs750439376	8.198e-06	8.195e-06	1.361e-06	2.203e-05	0.0005	3.86e-06	2.79e-06	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	3.564e-06	6.51e-05	1.847e-05	0	8.706e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.312	0.13925	T	0.531	0.10069	T	0.001	0.07471	B	0.002	0.06944	B	0.245799	0.15614	N	0.653642	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.69	0.19720	N	0.042	0.01498	-1.0406	0.17132	T	0.029	0.12629	T	10	0.046794057	0.03915	T	0.096898	0.76681	D	0.052	0.14661	0.086	0.00867	0.0934897674506	0.08844	0.06909784548585353	0.06847	0.180718933833	0.20323	0.299122810364	0.10271	T	0.03717	0.24375	T	-0.504728	0.00538	T	-0.962783	0.00224	T	0.0258973432837033	0.01391	T	0.59614	0.22137	T	0.039831918	0.05573	0.046645377	0.06548	0.039831918	0.05573	0.046645377	0.06548	-3.021	0.10409	T	.	.	0.070	0.03964	B	.;.;.	.;.;.	0.447504	0.08175	4.911	0.59955260094508367	0.06347	0.07388	0.13408	N	AEFGBI	.	.	.	.	.	.	.	.	.	4.28687679559605E-4	0.06935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-0.389	0.11835	0.231000	0.17651	-0.240000	0.10600	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.413000	0.27073	0.2127:0.292:0.1883:0.3071	0.461	0.00482	103	0.95740	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2172.33	150	chrX	74741253	.	C	T	2172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=783;ExcessHet=0;FS=2.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.521;SOR=0.881	GT:AD:DP:GQ:PL	0/1:68,82:150:99:2186,0,1636	18	0	1	0
chrX	78125810	78125810	G	A	exonic	PGK1	.	nonsynonymous SNV	PGK1:NM_000291:exon11:c.G1234A:p.D412N	Phosphoglycerate kinase 1 deficiency, X-linked recessive	1	1518	1	2	0	5	0.0016442	.	.	.	486498	Glycogen_storage_disease_due_to_phosphoglycerate_kinase_1_deficiency|not_provided	MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0399164136543	.	.	4.558e-05	0	0	0	0	8.334e-05	0	0	3.23e-05	5	154602	rs782165735	9.726e-05	9.837e-05	9.535e-05	0.0001	0.0012	8.2e-05	7.643e-05	0.0005	0.0003	0	0	0	0	0	0.0012	0.0001	0.0002	5.561e-05	6.255e-05	6.093e-05	7.709e-05	2.935e-05	0.0001	2.895e-05	2.067e-05	6.153e-05	4.301e-05	0	0	0	0	0	0	0	0.0001	0	0	0.182	0.21801	T	0.087	0.40747	T	0.001	0.07471	B	0.002	0.06944	B	0.000029	0.55875	D	0.153249	0.999823	0.49512	D	1.355	0.33814	L	-2.96	0.91956	D	-1.07	0.27876	N	0.106	0.09066	0.267	0.87023	D	0.712	0.90108	D	10	0.36939877	0.53356	T	0.039916	0.59082	D	0.337	0.65913	.	.	0.840393522238	0.83886	0.7540829808935435	0.75355	0.105795419672	0.11961	0.555442631245	0.46625	T	0.435126	0.78197	T	-0.234651	0.16038	T	-0.369331	0.36967	T	0.205127047258359	0.20696	T	0.90081	0.65538	D	0.6736339	0.76627	0.6063672	0.77115	0.6736339	0.76629	0.6063672	0.77116	-5.085	0.37748	T	0.22366520535468068	0.30196	0.161	0.35519	B	.;.	.;.	3.233290	0.44108	21.9	0.99587785720735911	0.73395	0.97921	0.78139	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999998851	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	7.178000	0.77202	9.707000	0.81321	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.950	0.86114	399	0.82780	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002379	0.000000	0.000000	0.000000	0.000000	0.000000	0.015464	0.000000	0.02632	1347.33	114	chrX	78125810	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.675;SOR=0.636	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1361,0,1403	18	0	1	0
chrX	86148727	86148727	C	T	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.C107T:p.P36L,DACH2:NM_053281:exon1:c.C107T:p.P36L	.	427	1087	4	4	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.207497364324	0.0013	0.000264901	0.0012	0.0003	0.0006	0	0.0003	0.0018	0.0039	0.0014	0.0009961	154	154602	rs147377892	0.0012	0.0013	0.0012	0.0013	0.0131	0.0012	0.0012	0.0103	0.0093	0.0002	0.0007	0.0003	0	0	0.0131	0.0014	0.0014	0.0010	0.0008	0.0008	0.0010	0.0004	0.0013	0.0007	0.0006	0.0010	0.0009	0.0001	0	0.0010	0	0	0	0.0093	0.0013	0.0013	0.0012	0.003	0.68238	D	0.661	0.14771	T	0.008	0.15535	B	0.009	0.17295	B	0.000166	0.48594	D	0.000000	1	0.81001	D	2.3	0.65703	M	-2.46	0.88924	D	-2.24	0.50175	N	0.101	0.08366	0.037	0.82994	D	0.606	0.86004	D	10	0.024837911	0.00698	T	0.207497	0.87096	D	0.420	0.72930	.	.	0.647293358273	0.64436	0.657185768473161	0.65655	0.15503215024	0.17510	0.48172044754	0.36294	T	0.27271	0.64511	T	-0.337842	0.05539	T	-0.277077	0.47104	T	0.0669084787368774	0.08211	T	0.789921	0.43036	T	0.1234794	0.28993	0.2296988	0.48049	0.1234794	0.28993	0.2296988	0.48048	-3.629	0.19614	T	.	.	0.122	0.25396	B	.;.	.;.	3.074515	0.41339	21.3	0.99574109357553653	0.72561	0.85689	0.44849	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919883216797	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.49	4.49	0.54177	3.838000	0.55532	3.708000	0.39547	0.545000	0.25583	1.000000	0.71638	0.999000	0.35428	0.113000	0.18872	0.0:0.908:0.0:0.092	11.056	0.47136	949	0.11373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.007586	0.000000	0.003711	0.015810	0.071429	0.035294	0.004425	0.000000	0.07895	4764.77	133	chrX	86148727	.	C	T	4764.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.76;DP=821;ExcessHet=0;FS=0.565;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.851;SOR=0.63	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1881,0,1688	17	1	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	372.78	164	chrX	91436668	.	G	A	372.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.363;DP=1481;ExcessHet=0.7564;FS=155.266;InbreedingCoeff=-0.1236;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.819;SOR=8.608	GT:AD:DP:GQ:PL	0/1:120,44:164:77:77,0,1874	15	0	4	0
chrX	119652909	119652909	G	A	exonic	SEPTIN6	.	nonsynonymous SNV	SEPTIN6:NM_015129:exon4:c.C473T:p.T158M,SEPTIN6:NM_145799:exon4:c.C473T:p.T158M,SEPTIN6:NM_145800:exon4:c.C473T:p.T158M,SEPTIN6:NM_145802:exon4:c.C473T:p.T158M	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.893735365547	9.5e-05	.	3.426e-05	0	0	0	0	4.172e-05	0	9.972e-05	3.23e-05	5	154602	rs145877420	1.458e-05	1.457e-05	1.77e-05	8.264e-06	9.932e-05	8.63e-06	6.98e-06	2.631e-05	1.429e-05	0	0	0	9.932e-05	0	0	9.506e-06	6.511e-05	3.695e-05	2.722e-05	2.612e-05	2.571e-05	3.084e-05	1.895e-05	7.23e-06	3.01e-06	.	.	0	0	0	0	0	0	0	1.895e-05	0.0013	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.24	0.98003	H	1.16	0.38073	T	-5.3	0.84387	D	0.288	0.38541	0.993	0.97073	D	0.844	0.94801	D	10	0.6312527	0.68529	D	0.893735	0.99196	D	0.531	0.80247	.	.	0.732683003388	0.73029	0.7890797514482515	0.78859	1.68067603589	0.89969	0.778617680073	0.78719	T	0.263243	0.90936	T	0.0198926	0.54367	T	-0.0589091	0.66409	T	0.989405691623688	0.79642	D	0.933507	0.75104	D	0.867773	0.88686	0.8899359	0.94262	0.867773	0.88688	0.8899359	0.94263	-11.326	0.81474	D	.	.	0.288	0.53618	B	.;.;.;.;.;.	.;.;.;.;.;.	5.072309	0.84603	28.4	0.99932520889687748	0.99439	0.95732	0.65918	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999955941	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	9.602000	0.97623	8.685000	0.78057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.503	0.87634	124	0.95048	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002066	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.010526	0.02632	1399.33	141	chrX	119652909	.	G	A	1399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=772;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.629;SOR=0.814	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1413,0,1852	18	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	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:70,34:111:46:46,0,940	2	0	17	0
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1	530.74	315	chrX	154928659	.	G	T	530.74	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-4.562;DP=2372;ExcessHet=0.3672;FS=183.52;InbreedingCoeff=-0.1523;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=4.08;SOR=11.059	GT:AD:DP:GQ:PL	0/1:245,70:315:23:23,0,5174	12	0	3	4