Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	1000G_ALL	1000G_AFR	1000G_AMR	1000G_EAS	1000G_EUR	1000G_SAS	ExAC_Freq	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	ESP6500si_ALL	ESP6500si_AA	ESP6500si_EA	CG46	NCI60	dbSNP	COSMIC_ID	COSMIC_DIS	ClinVar_SIG	ClinVar_DIS	ClinVar_ID	ClinVar_DB	ClinVar_DBID	GWAS_DIS	GWAS_OR	GWAS_BETA	GWAS_PUBMED	GWAS_SNP	GWAS_P	SIFT_score	SIFT_converted_rankscore	SIFT_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	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_score_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST3_score	VEST3_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	Eigen_coding_or_noncoding	Eigen-raw	Eigen-PC-raw	GenoCanyon_score	GenoCanyon_score_rankscore	integrated_fitCons_score	integrated_fitCons_score_rankscore	integrated_confidence_value	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP20way_mammalian	phyloP20way_mammalian_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons20way_mammalian	phastCons20way_mammalian_rankscore	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	Interpro_domain	GTEx_V6_gene	GTEx_V6_tissue	gnomAD_exome_ALL	gnomAD_exome_AFR	gnomAD_exome_AMR	gnomAD_exome_ASJ	gnomAD_exome_EAS	gnomAD_exome_FIN	gnomAD_exome_NFE	gnomAD_exome_OTH	gnomAD_exome_SAS	gnomAD_genome_ALL	gnomAD_genome_AFR	gnomAD_genome_AMR	gnomAD_genome_ASJ	gnomAD_genome_EAS	gnomAD_genome_FIN	gnomAD_genome_NFE	gnomAD_genome_OTH	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo
chr1	16342179	16342179	C	-	exonic	HSPB7		stopgain	HSPB7:NM_001349683:exon3:c.421delG:p.V141fs*0,HSPB7:NM_001349685:exon3:c.391delG:p.V131fs*0,HSPB7:NM_001349686:exon3:c.367delG:p.V123fs*0,HSPB7:NM_001349687:exon3:c.394delG:p.V132fs*0,HSPB7:NM_001349688:exon3:c.406delG:p.V136fs*0,HSPB7:NM_001349689:exon3:c.424delG:p.V142fs*0,HSPB7:NM_014424:exon3:c.409delG:p.V137fs*0,HSPB7:NM_001349682:exon4:c.634delG:p.V212fs*0																																																																																																																					het	196.73	54	chr1	16342178	.	AC	A	196.73	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.723;DP=59;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=84.03;MQ0=0;MQRankSum=-2.086;QD=3.33;RPA=2,1;RU=C;ReadPosRankSum=0.154;SOR=0.705;STR;set=variant	GT:AD:DP:GQ:PL	0/1:39,15:54:99:234,0,708
chr1	1663928	1663928	-	G	exonic	SLC35E2		frameshift insertion	SLC35E2:NM_182838:exon6:c.766_767insC:p.M256Tfs*70																																																																																																																					het	203.73	71	chr1	1663928	.	A	AG	203.73	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-6.021;DP=72;FS=103.805;MLEAC=1;MLEAF=0.500;MQ=86.84;MQ0=0;MQRankSum=-5.399;QD=2.83;ReadPosRankSum=-2.373;SOR=3.469;set=variant	GT:AD:DP:GQ:PL	0/1:53,18:71:99:241,0,1340
chr1	888665	888665	T	-	exonic	NOC2L		frameshift deletion	NOC2L:NM_015658:exon9:c.892delA:p.M298Wfs*1																																																																																																																					het	97.73	30	chr1	888664	.	AT	A	97.73	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.077;DP=31;FS=13.801;MLEAC=1;MLEAF=0.500;MQ=70.77;MQ0=0;MQRankSum=-2.308;QD=3.15;RPA=2,1;RU=T;ReadPosRankSum=-0.679;SOR=3.037;STR;set=variant	GT:AD:DP:GQ:PL	0/1:21,9:30:99:135,0,382
chr1	1850628	1850636	AGCGGCAGG	-	exonic	TMEM52		nonframeshift deletion	TMEM52:NM_178545:exon1:c.69_77del:p.L24_L26del	0.36	0.067	0.51	0.48	0.49	0.39	0.0120	0	0	0.0181	0	0.0160	0	0.0103	0.28	0.086	0.35	.	.	rs575852588	COSM1167507	1(bone);2(NS);2(haematopoietic_and_lymphoid_tissue);3(lung);1(large_intestine)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0247	0	0.0609	0.0194	0.0351	0.0289	0.0311	0.0278	0.0104	0.3785	0.1290	0.5622	0.3243	0.4570	0.4669	0.4871	0.4364	hom	16784.73	180	chr1	1850627	.	CAGCGGCAGG	C	16784.73	.	AC=2;AF=1.00;AN=2;DP=190;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=81.01;MQ0=0;QD=29.45;RPA=3,2;RU=AGCGGCAGG;SOR=0.861;STR;set=variant	GT:AD:DP:GQ:PL	1/1:0,178:180:99:16822,536,0
chr1	11710779	11710779	-	GCG	exonic	FBXO2		nonframeshift insertion	FBXO2:NM_012168:exon2:c.134_135insCGC:p.A45_Y46insA	0.31	0.57	0.34	0.16	0.16	0.25	0.2401	0.4561	0.2843	0.1901	0	0.1406	0.2281	0.2716	0.17	0.3	0.12	.	.	rs538764329	COSM1180447	1(prostate);2(thyroid);2(large_intestine)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2383	0.4812	0.3755	0.1241	0.2015	0.1225	0.1829	0.2347	0.2624	0.2955	0.5566	0.3714	0.1067	0.2094	0.1246	0.1983	0.2279	het	334.73	51	chr1	11710779	rs148874459	C	CGCG	334.73	.	AC=1;AF=0.500;AN=2;BaseQRankSum=2.342;DB;DP=51;FS=4.029;MLEAC=1;MLEAF=0.500;MQ=77.94;MQ0=0;MQRankSum=-1.879;QD=6.56;RPA=3,4;RU=GCG;ReadPosRankSum=1.075;SOR=1.292;STR;set=variant	GT:AD:DP:GQ:PL	0/1:27,22:51:99:372,0,893
chr1	888659	888659	T	C	exonic	NOC2L		nonsynonymous SNV	NOC2L:NM_015658:exon9:c.A898G:p.I300V	0.92	0.91	0.92	0.92	0.95	0.92	0.9355	0.9096	0.9557	0.9126	0.9600	0.9407	0.9509	0.9183	0.93	0.91	0.94	0.91	0.87	rs3748597	COSM4144219	1(thyroid)	.	.	.	.	.	.	.	.	.	.	.	1.0	0.010	T	0.0	0.026	B	0.0	0.013	B	0.070	0.216	N	1	0.090	P	-1.56	0.005	N	-0.39	0.692	T	0.76	0.020	N	0.031	0.089	-0.957	0.397	T	0.000	0.000	T	.	.	.	-1.330	0.021	0.004	0.237	0.010	0.042	0.096	N	c	-1.383	-1.178	0.029	0.139	0.672	0.522	0	4.28	0.500	0.037	0.136	0.016	0.142	0.009	0.180	0.143	0.203	7.695	0.276	Armadillo-type fold	ENSG00000188976.6|ENSG00000187583.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000187583.6|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187583.6	Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	0.9378	0.9079	0.9546	0.9347	0.9110	0.9604	0.9417	0.9396	0.9197	0.9348	0.9086	0.9487	0.9238	0.9100	0.9599	0.9455	0.9480	hom	1036.77	31	chr1	888659	rs3748597	T	C	1036.77	PASS	AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;FS=0.000;HaplotypeScore=8.6986;MLEAC=2;MLEAF=1.00;MQ=70.77;MQ0=0;POSITIVE_TRAIN_SITE;QD=33.44;SOR=0.892;VQSLOD=7.20;culprit=HaplotypeScore;set=variant2	GT:AD:DP:GQ:PL	1/1:0,31:31:90:1065,90,0
chr1	878314	878314	G	C	exonic	SAMD11		synonymous SNV	SAMD11:NM_152486:exon11:c.G1440C:p.G480G	0.043	0.0083	0.078	.	0.12	0.032	0.1068	0.0273	0.1349	0.0009	0.2532	0.1772	0.1081	0.0624	0.049	0.013	0.067	0.065	0.016	rs142558220	COSM426784	1(large_intestine)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0752	0.0112	0.0628	0.1793	0.0003	0.1014	0.0919	0.0975	0.0472	0.0659	0.0144	0.0537	0.1589	0.0006	0.1041	0.0911	0.0938	het	357.77	36	chr1	878314	rs142558220	G	C	357.77	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.955;DB;DP=36;Dels=0.00;FS=0.000;HaplotypeScore=6.9639;MLEAC=1;MLEAF=0.500;MQ=89.39;MQ0=0;MQRankSum=-1.811;QD=9.94;ReadPosRankSum=0.494;SOR=0.591;VQSLOD=4.09;culprit=MQRankSum;set=variant2	GT:AD:DP:GQ:PL	0/1:23,13:36:99:386,0,625