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["Supplementray Table3: Filtering results from whole exome sequencing for patient II.6 using the 150 genes panel from Table 1"]
[]
["Gene","Variant","Chr","Coordinate","Type","Genotype","Read Depth","Transcript","Consequence","cDNA Position","Protein Position","Amino Acids","Sift","PolyPhen","ENSP","HGVSc","HGVSp","dbSNP ID","Allele Freq","Allele Freq Global Minor","Global Minor Allele","Allele Freq Amr","Allele Freq Eas","Allele Freq Sas","Allele Freq Af","Allele Freq Eur","EVS Freq All","EVS Coverage","EVS Samples","ExAC Freq All","ExAC Freq Afr","ExAC Freq Amr","ExAC Freq Eas","ExAC Freq Sas","ExAC Freq Fin","ExAC Freq Nfe","ExAC Freq Other","ExAC Coverage","ExAC Samples","ClinVar Accession","ClinVar Alleles","ClinVar Significance","ClinVar Disease Name"]
["MYO15A","T>C/C",17,18023568,"snv","hom",61,"NM_016239.3","missense_variant",1792,485,"V/A",null,"benign (0.153)","NP_057323.3","NM_016239.3:c.1454T>C","NP_057323.3:p.Val485Ala","rs200532919",0.04,0.04,"C",0,0,0,0,0.2,0.09,4300,6223,0.09,0,0.06,0,0.16,0,0.11,0.34,2500,59452,"RCV000175875.1:RCV000223359.1","C","uncertain significance"]
["STRC","TT>T/T",15,43903198,"deletion","hom",91,"NM_153700.2","intron_variant",null,0,{"$nulls":3},"NP_714544.1","NM_153700.2:c.3307-16delA",null,null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["ADGRV1","CCGGCGGGGACCGCCGGGA>C/C",5,89854686,"deletion","hom",32,"NM_032119.3","5_prime_UTR_variant","71-88",0,{"$nulls":3},"NP_115495.3","NM_032119.3:c.-26_-9delCGGCGGGGACCGCCGGGA",null,"rs773996398",0,0,null,0,0,0,0,0,0,0,0,0.03,0,0,0,0,0,0.07,0,4700,9959]
["FGFR3","CGT>C/C",4,1809127,"deletion","hom",12,"NM_001163213.1","3_prime_UTR_variant","2822-2823",0,{"$nulls":3},"NP_001156685.1","NM_001163213.1:c.*156_*157delTG",null,"rs34562534;rs796200908;rs796525085;rs796894443",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["MITF","C>T/T",3,70005681,"snv","hom",27,"NM_198159.2","missense_variant,splice_region_variant",1176,338,"P/L","tolerated (0.92)","benign (0.169)","NP_937802.1","NM_198159.2:c.1013C>T","NP_937802.1:p.Pro338Leu","rs756923654",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["TMIE","TAAG>T/T",3,46751073,"deletion","hom",33,"NM_147196.2","inframe_deletion","522-524",123,"K/-",null,null,"NP_671729.2","NM_147196.2:c.391_393delAAG","NP_671729.2:p.Lys131del","rs10578999;rs869283685;rs552239745;rs397817178;rs71619660",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,"RCV000156096.1:RCV000041234.3:RCV000223108.1","AAG:-","benign"]
["COL11A1","CCAT>C/C",1,103471456,"deletion","hom",53,"NM_080629.2","intron_variant",null,0,{"$nulls":3},"NP_542196.2","NM_080629.2:c.1828-12_1828-10delATG",null,"rs112482103;rs34651202;rs71752747",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,"RCV000079905.4:RCV000153075.2:RCV000153076.2","-:CAT:CATCATCAT","benign:uncertain significance"]
["COL4A5","G>G/A","X",107811978,"snv","het",42,"NM_033380.2","intron_variant",null,0,{"$nulls":3},"NP_203699.1","NM_033380.2:c.322-11G>A",null,"rs764068730",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,3900,43863]
["TRIOBP","C>C/T",22,38122320,"snv","het",28,"NM_001039141.2","missense_variant",4028,1253,"R/W","deleterious - low confidence (0.04)","benign (0.016)","NP_001034230.1","NM_001039141.2:c.3757C>T","NP_001034230.1:p.Arg1253Trp","rs752575695",0,0,null,0,0,0,0,0,0,0,0,0,0.01,0,0,0,0,0,0,2600,56810]
["TSPEAR,KRTAP10-2","C>C/T",21,45971162,"snv","het",22,"NM_144991.2","intron_variant",null,0,{"$nulls":3},"NP_659428.2","NM_144991.2:c.303+16507G>A",null,"rs199922020;rs76415521",0,0,null,0,0,0,0,0,0,0,0,1.01,2.34,0.63,0.73,0.29,0.17,1.19,1.8,7200,59226]
["TSPEAR,KRTAP10-2","G>G/A",21,45971109,"snv","het",47,"NM_144991.2","intron_variant",null,0,{"$nulls":3},"NP_659428.2","NM_144991.2:c.303+16560C>T",null,"rs200984587;rs77233671",0,0,null,0,0,0,0,0,0,0,0,0.23,0.51,0.11,0.11,0.03,0.06,0.3,0.34,7300,59182]
["TMC2","T>T/C",20,2517319,"snv","het",38,"NM_080751.2","intron_variant",null,0,{"$nulls":3},"NP_542789.2","NM_080751.2:c.34+18T>C",null,"rs41282318",0.58,0.58,"C",0.14,0.1,2.66,0,0.1,0.24,4400,6484,1.15,0.08,0.35,0,2.12,2.68,0.96,1.75,5200,13779]
["MYH14","G>G/T",19,50747534,"snv","het",76,"NM_001145809.1","missense_variant",1197,384,"G/C","deleterious (0)","probably damaging (1)","NP_001139281.1","NM_001145809.1:c.1150G>T","NP_001139281.1:p.Gly384Cys","rs119103280",0.24,0.24,"T",0.58,0,0.2,0,0.6,0.28,9500,6374,0.29,0.09,0.21,0,0.17,0,0.41,0.79,2800,59997,"RCV000002283.3:RCV000037022.3","T","pathogenic:likely benign","Deafness,_autosomal_dominant_4"]
["LOXHD1","C>C/A",18,44157764,"snv","het",26,"NM_144612.6","missense_variant",1876,626,"G/C","deleterious (0)","benign (0.367)","NP_653213.6","NM_144612.6:c.1876G>T","NP_653213.6:p.Gly626Cys","rs34589386",1.28,1.28,"A",1.44,0,2.56,1.21,1.29,1.45,5800,2283,2.51,1.82,2.43,0,3.65,0.52,2.22,1.68,3200,11007,"RCV000041194.2","A","benign"]
["CRYM","G>G/A",16,21273412,"snv","het",47,"NM_001888.3","synonymous_variant",1039,247,"Y",null,null,"NP_001879.1","NM_001888.3:c.741C>T","NM_001888.3:c.741C>T(p.=)","rs34045013",1.28,1.28,"A",0.43,0,0,4.61,0,1.37,8300,6499,0.36,3.97,0.19,0,0,0,0,0,3300,60417,"RCV000150362.1","A","benign"]
["EDNRB-AS1,EDNRB","G>G/C",13,78472425,"snv","het",137,"NR_103853.1","intron_variant,non_coding_transcript_variant",null,0,{"$nulls":4},"NR_103853.1:n.1695-9402G>C",null,"rs139317762",0.14,0.14,"C",0,0,0.1,0,0.6,0.22,10400,6503,0.2,0.05,0.11,0,0.1,0,0.3,0.77,2900,60128]
["SLC17A8","C>C/A",12,100784775,"snv","het",141,"NM_139319.2","splice_region_variant,intron_variant",null,0,{"$nulls":3},"NP_647480.1","NM_139319.2:c.355-4C>A",null,"rs11568531",0.82,0.82,"A",2.16,0,0.2,1.66,0.2,0.67,12800,6503,0.33,1.61,0.62,0,0.14,0,0.2,0.99,4200,60699,"RCV000151879.1","A","benign"]
["SLC17A8","G>G/C",12,100751139,"snv","het",36,"NM_139319.2","5_prime_UTR_variant",283,0,{"$nulls":3},"NP_647480.1","NM_139319.2:c.-31G>C",null,null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["OTOGL","T>T/C",12,80746068,"snv","het",37,"NM_173591.3","splice_region_variant,intron_variant",null,0,{"$nulls":3},"NP_775862.3","NM_173591.3:c.5239-7T>C",null,"rs79120261",1.12,1.12,"C",1.44,0,1.02,0.38,3.08,2.47,6700,5891,2.15,0.61,1.32,0,0.68,0.76,3.25,1.42,2900,52396,"RCV000216973.1","C","benign"]
["MYO7A","C>C/T",11,76924985,"snv","het",91,"NM_000260.3","synonymous_variant",6791,2173,"N",null,null,"NP_000251.3","NM_000260.3:c.6519C>T","NM_000260.3:c.6519C>T(p.=)","rs111033230",0.84,0.84,"T",0.29,0,1.12,1.36,1.09,1.36,13900,6354,1.14,1.04,0.62,0,0.98,0.5,1.5,1.11,5000,60374,"RCV000036237.2:RCV000127064.1","T","benign"]
["MYO7A","C>C/T",11,76916589,"snv","het",40,"NM_000260.3","stop_gained",5835,1855,"Q/*",null,null,"NP_000251.3","NM_000260.3:c.5563C>T","NP_000251.3:p.Gln1855Ter",null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["CDH23","C>C/T",10,73377094,"snv","het",43,"NM_022124.5","synonymous_variant",1468,360,"L",null,null,"NP_071407.4","NM_022124.5:c.1078C>T","NM_022124.5:c.1078C>T(p.=)","rs185917383",0.38,0.38,"T",0.14,0,1.84,0,0,0.07,7600,6477,0.27,0.01,0.04,0,1.5,0,0.1,0.45,2500,60294,"RCV000039094.3","T","benign"]
["GATA3","C>C/T",10,8100599,"snv","het",100,"NM_001002295.1","synonymous_variant",1130,191,"P",null,null,"NP_001002295.1","NM_001002295.1:c.573C>T","NM_001002295.1:c.573C>T(p.=)","rs35508267",0.72,0.72,"T",0.58,0.1,2.45,0,0.69,0.42,7800,6503,0.87,0.09,0.34,0.04,2.7,0.2,0.79,2.24,3300,59771]
["TNC","G>G/A",9,117840334,"snv","het",79,"NM_002160.3","synonymous_variant",2974,854,"D",null,null,"NP_002151.2","NM_002160.3:c.2562C>T","NM_002160.3:c.2562C>T(p.=)","rs61739209",1.48,1.48,"A",2.02,0,1.33,0.15,4.47,3.45,18800,6503,2.99,0.69,2.06,0.01,1.53,1.47,4.41,3.85,4000,60702]
["CHD7","G>G/A",8,61750718,"snv","het",67,"NM_017780.3","synonymous_variant",4929,1479,"G",null,null,"NP_060250.2","NM_017780.3:c.4437G>A","NM_017780.3:c.4437G>A(p.=)","rs41265246",0.04,0.04,"A",0,0,0,0,0.2,0.05,6400,6023,0.09,0,0.11,0,0.08,0,0.13,0,3900,16502,"RCV000081836.4","A","uncertain significance"]
["SLC26A5","G>G/A",7,103020939,"snv","het",64,"NM_198999.2","synonymous_variant",1834,524,"D",null,null,"NP_945350.1","NM_198999.2:c.1572C>T","NM_198999.2:c.1572C>T(p.=)","rs191358470",0.22,0.22,"A",0,1.09,0,0,0,0,0,0,0.08,0.01,0.01,1.06,0,0,0,0.11,3700,60632,"RCV000155847.1","A","likely benign"]
["FAM65B","A>A/G",6,24825536,"snv","het",48,"NM_014722.2","missense_variant",3025,950,"L/S","deleterious (0)","probably damaging (1)","NP_055537.2","NM_014722.2:c.2849T>C","NP_055537.2:p.Leu950Ser",null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["TCOF1","A>A/C",5,149776132,"snv","het",20,"NM_001135243.1","synonymous_variant",4177,1357,"R",null,null,"NP_001128715.1","NM_001135243.1:c.4069A>C","NM_001135243.1:c.4069A>C(p.=)",null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["ADGRV1","A>A/T",5,89992918,"snv","het",165,"NM_032119.3","missense_variant",8206,2704,"I/F",null,"possibly damaging (0.828)","NP_115495.3","NM_032119.3:c.8110A>T","NP_115495.3:p.Ile2704Phe","rs376318779",0,0,null,0,0,0,0,0,0.01,15500,5997,0.02,0,0.04,0,0,0,0.03,0.11,2700,60335,"RCV000039639.3","T","uncertain significance"]
["FGFR3","C>C/T",4,1805568,"snv","het",38,"NM_001163213.1","intron_variant",null,0,{"$nulls":3},"NP_001156685.1","NM_001163213.1:c.1082-489C>T",null,"rs3135885",1.8,1.8,"T",1.44,0.99,0.82,3.78,1.19,1.62,8400,6503,1.14,3.46,1.09,1.78,1.49,0.04,0.71,1.44,2800,60246]
["CACNA1D","G>G/A",3,53844184,"snv","het",109,"NM_000720.3","synonymous_variant",6229,2037,"P",null,null,"NP_000711.1","NM_000720.3:c.6111G>A","NM_000720.3:c.6111G>A(p.=)","rs34388124",1.56,1.56,"A",2.16,0.1,1.64,0.38,4.07,2.81,5500,6503,3.03,0.65,1.59,0,2.55,4.46,4.02,3.67,4000,60530,"RCV000217882.1","A","benign"]
["COL4A3","T>T/C",2,228120800,"snv","het",83,"NM_000091.4","intron_variant",null,0,{"$nulls":3},"NP_000082.2","NM_000091.4:c.933+14T>C",null,"rs55928538",1.42,1.42,"C",2.16,0,1.33,0.38,3.78,2.58,11800,5938,2.74,0.96,1.77,0,2.77,2.23,3.58,2,4100,60254]
["ATP6V1B1,ATP6V1B1-AS1","C>C/T",2,71175460,"snv","het",27,"NM_001692.3","intron_variant",null,0,{"$nulls":3},"NP_001683.2","NM_001692.3:c.174+4617C>T",null,"rs189140041",0.02,0.02,"T",0.14,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]