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dijex3471.2019-01-28.report.tsv
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#Position ref/alt_alleles GenomicChange Multiallelic dijex3471 dijex3472 dijex3473 GeneList Accession Effect HgvsP HgvsC Exon Truncating NSSSI DeNovo Recessive dbSNP_ID AC_ESP AC_EXAC AC_gnomADex AC_gnomADge Freq_ESP Freq_EXAC Freq_gnomADex Freq_gnomADge BatchSampleCount ControlSampleCount OMIM OMIM_inheritance ACMG HGMD_Class HGMD_Phen ClinVar COSMIC CADD polyPhen GERP grantham MISZ PLI GENELISTS CNVs Denovo-db Comments
chr1:5993383 A/C chr1:g.5993383A>C . GT=0/1;AD=46:47;AB=0.51 GT=0/0;AD=66:0;AB=0.00 GT=0/1;AD=24:23;AB=0.49 .,NPHP4 NM_015102.4,NM_001291593.1,NM_001291594.1,. missense_variant,5_prime_UTR_premature_start_codon_gain_variant,5_prime_UTR_premature_start_codon_gain_variant,.|-|-|-|-|- p.Ser376Ala,.,.,.|-|-|-|-|- c.1126T>G,c.-241T>G,c.-241T>G,.|-|-|-|-|- 10/30,9/27,8/26,.|-|-|-|-|- False True no no rs199561679 2 15 33 2 0.0002 0.00014 0.00014 0.00006 2 0 Nephronophthisis_4,_606966_(3),_Autosomal_recessive|Senior-Loken_syndrome_4,_606996_(3),_Autosomal_recessive AR|AR . . . . COSM4239902 5.886 0.988 0.964 99,.,.,.,.,. 0.030 0.000 . . .
chr1:8420503 G/C chr1:g.8420503G>C . GT=0/1;AD=43:44;AB=0.51 GT=0/1;AD=13:19;AB=0.59 GT=0/0;AD=46:1;AB=0.02 RERE NM_001042681.1,NM_001042682.1,NM_012102.3 missense_variant,missense_variant,missense_variant|-|- p.Pro1022Ala,p.Pro468Ala,p.Pro1022Ala|-|- c.3064C>G,c.1402C>G,c.3064C>G|-|- 18/23,8/13,19/24|-|- False True no no rs202121539 10 7 55 174 0.0021 0.00682 0.00151 0.00625 2 0 Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart,_616975_(3),_Autosomal_dominant AD . . . Benign . 0.003 0.0,0.002 -1.2 27,27,27 2.131 1.000 . . .
chr1:9067387 C/G chr1:g.9067387C>G . GT=0/1;AD=62:54;AB=0.47 GT=0/1;AD=43:25;AB=0.37 GT=0/0;AD=71:0;AB=0.00 SLC2A7 NM_207420.2 missense_variant p.Gly392Arg c.1174G>C 10/12 False True no no rs140457760 3 7 10 . 0.0002 0.00006 0.00004 0.00000 2 0 . . . . . . . 33 0.999 4.07 125 -0.039 0.000 . . .
chr1:11318629 G/A chr1:g.11318629G>A . GT=0/1;AD=59:47;AB=0.44 GT=0/0;AD=68:1;AB=0.01 GT=0/1;AD=16:16;AB=0.50 MTOR NM_004958.3 missense_variant p.Arg62Cys c.184C>T 3/58 False True no no rs1217005872 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 Focal_cortical_dysplasia,_type_II,_somatic,_607341_(3)|Smith-Kingsmore_syndrome,_616638_(3),_Autosomal_dominant .|AD . . . . . 26.6 0.474 5.89 180 7.382 1.000 . . .
chr1:13001232 C/G chr1:g.13001232C>G . GT=0/1;AD=69:53;AB=0.43 GT=0/0;AD=44:0;AB=0.00 GT=0/1;AD=79:23;AB=0.23 PRAMEF27,PRAMEF6,PRAMEF9 NM_001010889.2,NM_001010890.2,NM_001300891.1 missense_variant,missense_variant,missense_variant|-|- p.Val151Leu,p.Val152Leu,p.Val152Leu|-|- c.451G>C,c.454G>C,c.454G>C|-|- 3/4,2/3,2/3|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 0.001 0.005 -3.03 32,32,32 .,-1.901,. .,0.000,. . chr1:12907259:13183874:DEL .
chr1:13634777 G/T chr1:g.13634777G>T . GT=0/1;AD=54:33;AB=0.38 GT=0/1;AD=5:7;AB=0.58 GT=0/0;AD=52:0;AB=0.00 PRAMEF10,PRAMEF18,PRAMEF33P NM_001039361.4.2,NM_001291381.1.2,NM_001099850.2.2 missense_variant,missense_variant,intron_variant|-|- p.Arg308Leu,p.Arg308Leu,.|-|- c.923G>T,c.923G>T,c.287+63295C>A|-|- 4/4,4/4,1/2|-|- False True no no rs201293819 . . . 2 0.0000 0.00000 0.00000 0.00013 2 0 . . . . . . . . . . 102,102,. -1.459,-0.792,. 0.001,0.309,. . . .
chr1:17265472 C/G chr1:g.17265472C>G . GT=0/1;AD=230:69;AB=0.23 GT=0/0;AD=148:0;AB=0.00 GT=0/1;AD=108:41;AB=0.28 CROCC NM_014675.4 missense_variant p.Asn481Lys c.1443C>G 12/37 False True no no rs149317645 0 505 772 188 0.0000 0.00458 0.00338 0.00609 2 1 . . . . . . COSM2075347 0.191 0.001,0.022,0.006 -10.8 94 0.519 0.000 . chr1:17090907:17275423:DUP .
chr1:19432330 A/C chr1:g.19432330A>C . GT=0/1;AD=43:50;AB=0.54 GT=0/1;AD=22:31;AB=0.58 GT=0/0;AD=47:0;AB=0.00 UBR4 NM_020765.2 missense_variant p.Phe4134Val c.12400T>G 84/106 False True no no rs143516447 18 147 249 32 0.0014 0.00175 0.00112 0.00103 2 0 . . . . . . . 28.1 0.967 5.29 50 6.106 1.000 . . .
chr1:19595758 CAACT/C chr1:g.19595759_19595762delAACT . GT=0/1;AD=55:49;AB=0.47 GT=0/0;AD=59:0;AB=0.00 GT=0/1;AD=21:32;AB=0.60 AKR7L NR_040288.1,NR_040289.1 splice_region_variant&intron_variant,intron_variant|- .,.|- n.704+4_704+7delAGTT,n.508-567_508-564delAGTT|- 5/6,3/4|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,. 0.229 0.000 . . .
chr1:24294449 T/TA chr1:g.24294449_24294450insA . GT=0/1;AD=57:15;AB=0.21 GT=0/0;AD=29:4;AB=0.12 GT=0/0;AD=23:4;AB=0.15 SRSF10 NM_001191006.2,NM_001300936.1,NM_054016.3,NM_001191005.2,NM_001191007.2,NM_001191009.2,NM_001300937.1,NM_006625.5,NR_034035.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,3_prime_UTR_variant,3_prime_UTR_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|- .,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|- c.492-4_492-3insT,c.489-4_489-3insT,c.*3182_*3183insT,c.*3182_*3183insT,c.489-237_489-236insT,c.438-237_438-236insT,c.594-237_594-236insT,c.492-237_492-236insT,n.1097-237_1097-236insT|-|-|-|-|-|-|-|- 5/5,5/5,6/6,6/6,5/5,4/4,6/6,5/5,6/6|-|-|-|-|-|-|-|- False True no no rs772346679 0 3 177 12 0.0000 0.00025 0.00249 0.00164 1 3 . . . . . . COSM5574059 . . . .,.,.,.,.,.,.,.,. 0.462 0.394 . . .
chr1:26694999 C/T chr1:g.26694999C>T . GT=0/1;AD=80:73;AB=0.48 GT=0/0;AD=77:0;AB=0.00 GT=0/1;AD=24:37;AB=0.61 ZNF683 NM_001307925.1,NM_001114759.2,NM_173574.3 missense_variant,missense_variant,missense_variant|-|- p.Gly22Arg,p.Gly22Arg,p.Gly22Arg|-|- c.64G>A,c.64G>A,c.64G>A|-|- 2/7,2/6,2/6|-|- False True no no rs749381677 . . 4 1 0.0000 0.00000 0.00002 0.00003 2 0 . . . . . . . 10.71 0.18,0.113 1.71 125,125,125 -0.047 0.000 . . .
chr1:27699991 G/A chr1:g.27699991G>A . GT=0/1;AD=71:61;AB=0.46 GT=0/0;AD=75:0;AB=0.00 GT=0/1;AD=35:19;AB=0.35 FCN3 NM_003665.3,NM_173452.2 missense_variant,intron_variant|- p.Arg85Trp,.|- c.253C>T,c.233-237C>T|- 4/8,3/6|- False True no no rs146535239 17 181 400 53 0.0013 0.00150 0.00163 0.00172 2 0 Immunodeficiency_due_to_ficolin_3_deficiency,_613860_(3),_Autosomal_recessive AR . . . . . 7.688 0.995 -8.55 101,. 0.372 0.018 . . .
chr1:27942362 G/T chr1:g.27942362G>T . GT=0/1;AD=50:51;AB=0.51 GT=0/0;AD=61:0;AB=0.00 GT=0/1;AD=29:25;AB=0.46 FGR NM_001042729.1,NM_001042747.1,NM_005248.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|- .,.,.|-|- c.683-7C>A,c.683-7C>A,c.683-7C>A|-|- 7/12,7/12,7/12|-|- False True no no rs367996753 10 56 192 49 0.0008 0.00151 0.00103 0.00158 2 0 . . . . . . . . . . .,.,. 2.775 0.473 . . .
chr1:34258019 C/T chr1:g.34258019C>T . GT=0/1;AD=52:45;AB=0.46 GT=0/1;AD=21:16;AB=0.43 GT=0/0;AD=42:0;AB=0.00 CSMD2 NM_001281956.1,NM_052896.4 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.1550+5G>A,c.1430+5G>A|- 11/70,11/69|- False True no no rs1047051805 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,. . . . . .
chr1:41990450 C/T chr1:g.41990450C>T . GT=0/1;AD=64:49;AB=0.43 GT=0/0;AD=64:0;AB=0.00 GT=0/1;AD=32:36;AB=0.53 HIVEP3 NM_024503.4,NM_001127714.2 missense_variant,missense_variant|- p.Arg1780Gln,p.Arg1780Gln|- c.5339G>A,c.5339G>A|- 6/9,5/8|- False True no no rs766117790 0 3 3 . 0.0000 0.00002 0.00001 0.00000 2 0 . . . . . . . 34 1.0,1.0 5.0 43,43 1.254 0.884 . . .
chr1:44063417 A/C chr1:g.44063417A>C . GT=0/1;AD=66:14;AB=0.17 GT=0/0;AD=43:16;AB=0.27 GT=0/0;AD=29:23;AB=0.44 PTPRF NM_002840.4,NM_130440.3,NM_001329137.1,NM_001329138.1,NM_001329139.1,NM_001329140.1 splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- .,.,.,.,.,.|-|-|-|-|- c.1814-2A>C,c.1814-2A>C,c.1832-974A>C,c.1844-974A>C,c.1814-974A>C,c.1814-974A>C|-|-|-|-|- 11/33,11/32,13/34,14/36,11/32,11/30|-|-|-|-|- True True no yes rs1335734581 . . 193 3 0.0000 0.00000 0.00161 0.00016 3 0 ?Breasts_and/or_nipples,_aplasia_or_hypoplasia_of,_2,_616001_(3),_Autosomal_recessive AR . . . . . 24.9 . 3.36 .,.,.,.,.,. 2.737 1.000 . . .
chr1:44063424 T/C chr1:g.44063424T>C . GT=0/1;AD=93:12;AB=0.11 GT=0/0;AD=56:14;AB=0.20 GT=0/0;AD=34:24;AB=0.41 PTPRF NM_002840.4,NM_130440.3,NM_001329137.1,NM_001329138.1,NM_001329139.1,NM_001329140.1 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- p.Ser607Pro,p.Ser607Pro,.,.,.,.|-|-|-|-|- c.1819T>C,c.1819T>C,c.1832-967T>C,c.1844-967T>C,c.1814-967T>C,c.1814-967T>C|-|-|-|-|- 12/34,12/33,13/34,14/36,11/32,11/30|-|-|-|-|- False True no yes rs868510741 . . 73 0 0.0000 0.00000 0.00051 0.00000 1 0 ?Breasts_and/or_nipples,_aplasia_or_hypoplasia_of,_2,_616001_(3),_Autosomal_recessive AR . . . . COSM6393472 23.5 0.869,0.97,0.29,0.972 3.36 74,74,.,.,.,. 2.737 1.000 . . .
chr1:54605318 TG/TGGG,TGGGG,TGG,TGCG,T chr1:g.54605319delG,chr1:g.54605319delG,chr1:g.54605319delG,chr1:g.54605319delG,chr1:g.54605319delG Multiallelic GT=0/4;AD=73:0:0:0:88:0;AB=0.00:0.00:0.00:0.55:0.00 GT=0/0;AD=91:3:3:3:3:3;AB=0.03:0.03:0.03:0.03:0.03 GT=1/4;AD=0:30:0:2:39:0;AB=0.42:0.00:0.03:0.55:0.00 CDCP2 NM_201546.3 frameshift_variant|-|-|frameshift_variant|- p.Met409fs|-|-|p.Met409fs|- c.1224delC|-|-|c.1222_1223dupCC|- 4/4|-|-|4/4|- True True no no rs549857682;rs79249469;rs76608277 NA,NA,NA,NA,0 18124,2982,21496,435,350 34982,5113,40322,789,575 4652,364,5295,77,272 0.0000:0.0000:0.0000:0.0000:0.0000 0.22783:0.03748:0.27021:0.00547:0.00440 0.22868:0.03342:0.26359:0.00516:0.00376 0.22844:0.01787:0.26002:0.00378:0.01336 13:4:22:2:0 25:3:32:1:1 . . . . . . . . . . .,.,.,.,. 0.001 0.000 . . .
chr1:55118790 C/G chr1:g.55118790C>G . GT=0/1;AD=75:92;AB=0.55 GT=0/1;AD=54:47;AB=0.47 GT=0/0;AD=62:0;AB=0.00 MROH7,MROH7-TTC4 NM_001039464.3,NM_001291332.1,NR_037639.2,NR_026782.2,NR_111931.1,NR_037640.2,NR_037641.2 missense_variant,intron_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|-|- p.Ser64Cys,.,.,.,.,.,.|-|-|-|-|-|- c.191C>G,c.-214+11149C>G,n.634C>G,n.523C>G,n.529C>G,n.529C>G,n.529C>G|-|-|-|-|-|- 3/24,1/21,3/33,3/24,3/23,3/33,3/33|-|-|-|-|-|- False True no no rs150191046 32 107 167 68 0.0026 0.00089 0.00068 0.00220 2 0 . . . . . . . 5.297 0.785,0.545,0.876 2.66 112,.,.,.,.,.,. -0.055,. 0.000,. . . .
chr1:57341737 C/T chr1:g.57341737C>T . GT=0/1;AD=51:41;AB=0.45 GT=0/1;AD=31:29;AB=0.48 GT=0/0;AD=39:0;AB=0.00 C8A NM_000562.2 missense_variant&splice_region_variant p.Arg107Cys c.319C>T 4/11 False True no no rs139141074 12 33 74 12 0.0009 0.00029 0.00030 0.00039 2 0 C8_deficiency,_type_I,_613790_(3),_Autosomal_recessive AR . . . . . 35 1.0 5.84 180 -0.971 0.000 . . .
chr1:75204374 A/G chr1:g.75204374A>G . GT=0/1;AD=46:35;AB=0.43 GT=0/1;AD=25:21;AB=0.46 GT=0/0;AD=31:0;AB=0.00 TYW3 NM_138467.2,NR_027962.1,NM_001162916.1 missense_variant&splice_region_variant,splice_region_variant&non_coding_transcript_exon_variant,intron_variant|-|- p.Ile86Val,.,.|-|- c.256A>G,n.436A>G,c.255+2068A>G|-|- 3/6,3/6,2/4|-|- False True no no rs767606379 0 1 9 1 0.0000 0.00001 0.00004 0.00003 2 0 . . . . . . . 7.267 0.005 3.67 29,.,. -0.410 0.002 . . .
chr1:95290064 T/C chr1:g.95290064T>C . GT=0/1;AD=42:54;AB=0.56 GT=0/1;AD=32:37;AB=0.54 GT=0/0;AD=49:0;AB=0.00 SLC44A3 NM_001114106.2,NM_001258340.1,NM_001258341.1,NM_001258342.1,NM_001258343.1,NM_001301079.1,NM_152369.4 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|- p.Tyr51His,p.Tyr51His,p.Tyr51His,p.Tyr15His,p.Tyr15His,p.Tyr3His,p.Tyr3His|-|-|-|-|-|- c.151T>C,c.151T>C,c.151T>C,c.43T>C,c.43T>C,c.7T>C,c.7T>C|-|-|-|-|-|- 3/15,3/15,3/15,2/14,2/14,2/14,2/14|-|-|-|-|-|- False True no no rs145608976 15 41 61 19 0.0012 0.00035 0.00026 0.00061 2 0 . . . . . . . 16.73 1.0,0.98,0.994,0.994,0.994 5.71 83,83,83,83,83,83,83 1.043 0.000 . . .
chr1:109805791 A/T chr1:g.109805791A>T . GT=0/1;AD=48:35;AB=0.42 GT=0/1;AD=30:27;AB=0.47 GT=0/0;AD=43:0;AB=0.00 CELSR2 NM_001408.2 missense_variant p.Asp1579Val c.4736A>T 8/34 False True no no rs139406620 16 143 309 30 0.0012 0.00119 0.00126 0.00097 2 0 . . . . . . . 16.33 0.097 4.74 152 1.962 1.000 . . .
chr1:115537312 C/T chr1:g.115537312C>T . GT=0/1;AD=64:13;AB=0.17 GT=0/0;AD=51:1;AB=0.02 GT=0/0;AD=40:2;AB=0.05 SYCP1 NM_001282541.1,NM_001282542.1,NM_003176.3,NR_104211.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.2704-7C>T,c.2629-7C>T,c.2704-7C>T,n.3047-7C>T|-|-|- 30/31,29/30,30/31,31/32|-|-|- False True yes no rs1177861854 . . 51 1 0.0000 0.00000 0.00026 0.00003 1 0 . . . . . . . . . . .,.,.,. 1.508 1.000 . . .
chr1:144923712 T/C chr1:g.144923712T>C . GT=0/1;AD=267:67;AB=0.20 GT=0/1;AD=118:35;AB=0.23 GT=0/0;AD=132:0;AB=0.00 NBPF20,NBPF9,PDE4DIP NM_001198834.3,NM_014644.5,NM_001198832.2,NM_001002811.2,NM_001002812.2,NM_001278267.1,NM_001277444.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,intron_variant,intron_variant|-|-|-|-|-|- p.Gln249Arg,p.Gln249Arg,p.Gln315Arg,p.Gln412Arg,p.Gln249Arg,.,.|-|-|-|-|-|- c.746A>G,c.746A>G,c.944A>G,c.1235A>G,c.746A>G,c.5357+98956T>C,c.2582+95784T>C|-|-|-|-|-|- 6/44,6/44,9/46,2/19,6/23,53/130,20/24|-|-|-|-|-|- False True no yes rs143406342 50 169 237 99 0.0038 0.00139 0.00096 0.00320 2 0 . . . . . . . 18.88 0.4,0.763,0.51,0.855,0.485 5.93 43,43,43,43,43,.,. -7.517,-7.007,0.831 0.000,0.000,0.000 . . .
chr1:145298220 G/A chr1:g.145298220G>A . GT=0/1;AD=145:36;AB=0.20 GT=0/1;AD=70:21;AB=0.23 GT=0/0;AD=81:0;AB=0.00 NBPF10,NBPF20,NBPF25P,NBPF9 NM_001302371.1,NM_001039703.5,NM_001278267.1,NM_001277444.1,NR_104217.1 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Cys211Tyr,p.Cys211Tyr,.,.,.|-|-|-|- c.632G>A,c.632G>A,c.5358-15114G>A,c.2583-15114G>A,n.431-3500G>A|-|-|-|- 5/90,5/86,53/130,20/24,3/17|-|-|-|- False True no yes rs868992891 NA 811 659 283 0.0000 0.00748 0.00277 0.00943 2 1 . . . . . . . 0.483 . -2.35 194,194,.,.,. -11.350,-7.517,.,-7.007 0.000,0.000,.,0.000 . . .
chr1:146672962 T/C chr1:g.146672962T>C . GT=0/1;AD=79:70;AB=0.47 GT=0/0;AD=77:0;AB=0.00 GT=0/1;AD=27:34;AB=0.56 FMO5 NM_001461.3,NM_001144829.2,NM_001144830.2 missense_variant,missense_variant,intron_variant|-|- p.Arg319Gly,p.Arg319Gly,.|-|- c.955A>G,c.955A>G,c.830+7452A>G|-|- 7/9,7/9,5/6|-|- False True no no rs142335408 18 81 162 20 0.0014 0.00067 0.00066 0.00065 2 0 . . . . . . . 17.57 0.367,0.007 2.53 125,125,. -0.593 0.000 . . .
chr1:147597264 G/C chr1:g.147597264G>C . GT=0/1;AD=45:6;AB=0.12 GT=0/0;AD=26:0;AB=0.00 GT=0/0;AD=21:1;AB=0.04 NBPF11,NBPF8 NM_183372.5.2,NM_001101663.4.2,NM_001037501.2.2,NR_110864.1.2,NR_102404.1.2,NR_102405.1.2,NR_046188.3.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,non_coding_transcript_exon_variant|-|-|-|-|-|- p.Leu120Val,p.Leu66Val,.,.,.,.,.|-|-|-|-|-|- c.358C>G,c.196C>G,c.2477-20336C>G,n.1214-914C>G,n.2486-20336C>G,n.2383-20336C>G,n.1363C>G|-|-|-|-|-|- 6/24,4/22,18/19,5/22,17/18,16/17,7/25|-|-|-|-|-|- False True yes no . . . . 94 0.0000 0.00000 0.00000 0.00362 1 3 . . . . . . COSM4594742 0.165 0.458,0.593 . 32,32,.,.,.,.,. -1.362,-2.559 0.001,0.000 . . control:2
chr1:152084080 A/G chr1:g.152084080A>G . GT=0/1;AD=116:102;AB=0.47 GT=0/0;AD=143:0;AB=0.00 GT=0/1;AD=45:62;AB=0.58 TCHH NM_007113.3 missense_variant p.Leu538Pro c.1613T>C 3/3 False True no no rs199577810 15 72 206 18 0.0012 0.00060 0.00084 0.00068 2 1 ?Uncombable_hair_syndrome_3,_617252_(3),_Autosomal_recessive AR . . . . . 8.158 0.932 -4.28 98 -6.197 0.000 . . .
chr1:152276692 C/G chr1:g.152276692C>G . GT=0/1;AD=221:54;AB=0.20 GT=0/1;AD=103:46;AB=0.31 GT=0/0;AD=102:0;AB=0.00 FLG NM_002016.1 missense_variant p.Gly3557Ala c.10670G>C 3/3 False True no yes rs142157664 0 475 325 191 0.0000 0.00391 0.00133 0.00632 2 0 {Dermatitis,_atopic,_susceptibility_to,_2},_605803_(3)|Ichthyosis_vulgaris,_146700_(3),_Autosomal_dominant .|AD . . . . . 0.138 0.989 -3.11 60 -17.639 0.000 . . .
chr1:152278624 C/A chr1:g.152278624C>A . GT=0/1;AD=193:89;AB=0.32 GT=0/1;AD=156:64;AB=0.29 GT=0/0;AD=64:0;AB=0.00 FLG NM_002016.1 missense_variant p.Arg2913Ile c.8738G>T 3/3 False True no yes rs143503227 46 133 237 117 0.0036 0.00112 0.00097 0.00402 2 0 {Dermatitis,_atopic,_susceptibility_to,_2},_605803_(3)|Ichthyosis_vulgaris,_146700_(3),_Autosomal_dominant .|AD . . . . . 3.391 0.969 1.56 97 -17.639 0.000 . . .
chr1:152279183 G/A chr1:g.152279183G>A . GT=0/1;AD=60:22;AB=0.27 GT=0/1;AD=47:11;AB=0.19 GT=0/0;AD=18:0;AB=0.00 FLG NM_002016.1 missense_variant p.Arg2727Trp c.8179C>T 3/3 False True no yes rs371531521 59 479 556 203 0.0047 0.00462 0.00234 0.00920 2 1 {Dermatitis,_atopic,_susceptibility_to,_2},_605803_(3)|Ichthyosis_vulgaris,_146700_(3),_Autosomal_dominant .|AD . . . . . 1.443 0.001 0.55 101 -17.639 0.000 . . .
chr1:152284210 C/A chr1:g.152284210C>A . GT=0/1;AD=152:132;AB=0.47 GT=0/1;AD=65:83;AB=0.56 GT=0/0;AD=106:0;AB=0.00 FLG NM_002016.1 missense_variant p.Arg1051Leu c.3152G>T 3/3 False True no yes rs750417691 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 {Dermatitis,_atopic,_susceptibility_to,_2},_605803_(3)|Ichthyosis_vulgaris,_146700_(3),_Autosomal_dominant .|AD . . . . COSM6507756 2.991 0.713 -3.48 102 -17.639 0.000 . . .
chr1:152659479 G/A chr1:g.152659479G>A . GT=0/1;AD=123:106;AB=0.46 GT=0/0;AD=153:0;AB=0.00 GT=0/1;AD=58:41;AB=0.41 LCE2B NM_014357.4 missense_variant p.Gly54Ser c.160G>A 2/2 False True no no rs148459371 7 48 110 9 0.0005 0.00040 0.00045 0.00029 2 0 . . . . . . COSM1334213 5.729 0.004 1.33 56 -1.714 0.104 . . .
chr1:155679557 G/T chr1:g.155679557G>T . GT=0/1;AD=60:12;AB=0.17 GT=0/0;AD=20:6;AB=0.23 GT=0/1;AD=16:5;AB=0.24 DAP3 NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|- .,.,.,.,.|-|-|-|- c.-7-7G>T,c.-7-7G>T,c.-7-7G>T,c.-7-7G>T,c.-7-7G>T|-|-|-|- 2/13,1/11,1/11,1/12,1/12|-|-|-|- False True no no rs201816092 0 271 643 166 0.0000 0.00279 0.00407 0.00837 3 2 . . . . . . . . . . .,.,.,.,. 0.356 0.000 . . .
chr1:161144965 C/T chr1:g.161144965C>T . GT=0/1;AD=59:63;AB=0.52 GT=0/0;AD=84:0;AB=0.00 GT=0/1;AD=26:34;AB=0.57 B4GALT3 NM_001199873.1,NM_001199874.1,NM_003779.3 missense_variant,missense_variant,missense_variant|-|- p.Glu103Lys,p.Glu103Lys,p.Glu103Lys|-|- c.307G>A,c.307G>A,c.307G>A|-|- 4/8,4/8,4/8|-|- False True no no rs141596172 5 46 92 9 0.0004 0.00038 0.00037 0.00029 2 0 . . . . . . . 21.9 0.026,0.014 4.22 56,56,56 1.425 0.009 . . .
chr1:169509682 G/C chr1:g.169509682G>C . GT=0/1;AD=81:62;AB=0.43 GT=0/1;AD=44:47;AB=0.52 GT=0/0;AD=64:0;AB=0.00 F5 NM_000130.4 missense_variant p.Pro1549Arg c.4646C>G 13/25 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 {Budd-Chiari_syndrome},_600880_(3),_Autosomal_recessive|Factor_V_deficiency,_227400_(3),_Autosomal_recessive|{Pregnancy_loss,_recurrent,_susceptibility_to,_1},_614389_(3),_Autosomal_dominant|{Stroke,_ischemic,_susceptibility_to},_601367_(3),_Multifactorial|Thrombophilia_due_to_activated_protein_C_resistance,_188055_(3),_Autosomal_dominant|{Thrombophilia,_susceptibility_to,_due_to_factor_V_Leiden},_188055_(3),_Autosomal_dominant AR|AR|AD|Mu|AD|AD . . . . . 25.3 0.997 5.0 103 0.887 0.000 . . .
chr1:172357720 C/T chr1:g.172357720C>T . GT=0/1;AD=87:73;AB=0.46 GT=0/1;AD=49:48;AB=0.49 GT=0/0;AD=71:1;AB=0.01 DNM3 NM_015569.4,NM_001136127.2 missense_variant,missense_variant|- p.Pro765Ser,p.Pro761Ser|- c.2293C>T,c.2281C>T|- 20/21,19/20|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 18.09 0.9,0.009,0.001 5.32 74,74 2.841 0.003 . . .
chr1:176525966 G/A chr1:g.176525966G>A . GT=0/1;AD=82:86;AB=0.51 GT=0/0;AD=99:0;AB=0.00 GT=0/1;AD=38:31;AB=0.45 PAPPA2 NM_020318.2,NM_021936.2 missense_variant,missense_variant|- p.Ala170Thr,p.Ala170Thr|- c.508G>A,c.508G>A|- 2/23,2/5|- False True no no rs374292214 1 1 3 . 0.0001 0.00001 0.00001 0.00000 2 0 . . . . . . . 1.242 0.281,0.421 2.08 58,58 1.158 0.000 . . .
chr1:182555653 T/G chr1:g.182555653T>G . GT=0/1;AD=80:82;AB=0.51 GT=0/0;AD=89:0;AB=0.00 GT=0/1;AD=25:35;AB=0.58 RNASEL NM_021133.3 missense_variant p.Ile97Leu c.289A>C 2/7 False True no no rs56250729 87 931 1647 176 0.0067 0.00774 0.00672 0.00568 2 1 Prostate_cancer_1,_601518_(3),_Autosomal_dominant AD . DM? "Prostate_cancer" . . 13.87 0.997,0.997,0.997 4.71 5 0.176 0.000 . . .
chr1:196797198 A/G chr1:g.196797198A>G . GT=0/1;AD=46:40;AB=0.47 GT=0/1;AD=16:19;AB=0.54 GT=0/0;AD=26:1;AB=0.04 CFHR1 NM_002113.2 splice_acceptor_variant&intron_variant . c.431-2A>G 3/5 True True no no rs111851524 0 20 56 1 0.0000 0.00019 0.00025 0.00004 2 0 {Hemolytic_uremic_syndrome,_atypical,_susceptibility_to},_235400_(3),_Autosomal_recessive,_Autosomal_dominant|{Macular_degeneration,_age-related,_reduced_risk_of},_603075_(3),_Autosomal_dominant AR,AD|AD . . . . . 10.07 . 2.89 . -0.268 0.000 . . .
chr1:200818496 C/T chr1:g.200818496C>T . GT=0/1;AD=85:74;AB=0.47 GT=0/1;AD=48:39;AB=0.45 GT=0/0;AD=64:0;AB=0.00 CAMSAP2 NM_001297707.1,NM_001297708.1,NM_203459.2 missense_variant,missense_variant,missense_variant|-|- p.Pro878Ser,p.Pro851Ser,p.Pro867Ser|-|- c.2632C>T,c.2551C>T,c.2599C>T|-|- 12/18,11/17,11/17|-|- False True no no rs755548194 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 . . . . . . . 23.4 0.949,0.846,0.813 4.88 74,74,74 2.946 1.000 . . .
chr1:201177634 G/C chr1:g.201177634G>C . GT=0/1;AD=83:85;AB=0.51 GT=0/1;AD=61:56;AB=0.48 GT=0/0;AD=68:0;AB=0.00 IGFN1 NM_001164586.1 missense_variant p.Ala1205Pro c.3613G>C 12/24 False True no no rs896619475 . . 2 1 0.0000 0.00000 0.00003 0.00003 2 0 . . . . . . . 22.3 . 1.18 27 0.655 0.000 . . .
chr1:202097379 G/A chr1:g.202097379G>A . GT=0/1;AD=99:79;AB=0.44 GT=0/0;AD=113:0;AB=0.00 GT=0/1;AD=30:61;AB=0.67 GPR37L1 NM_004767.3 missense_variant p.Val381Met c.1141G>A 2/2 False True no no rs115745935 0 8 20 3 0.0000 0.00007 0.00008 0.00010 2 0 . . . . . . . 27.5 1.0 5.18 21 0.632 0.000 . . .
chr1:204230441 G/A chr1:g.204230441G>A . GT=0/1;AD=62:52;AB=0.46 GT=1/1;AD=0:62;AB=1.00 GT=0/0;AD=43:0;AB=0.00 PLEKHA6 NM_014935.4 missense_variant p.Arg173Trp c.517C>T 7/23 False True no no rs141581226 17 236 556 25 0.0013 0.00194 0.00226 0.00081 4 0 . . . . . . . 23.8 0.99 5.56 101 0.724 0.060 . . .
chr1:205811865 G/T chr1:g.205811865G>T . GT=0/1;AD=67:80;AB=0.54 GT=0/0;AD=67:0;AB=0.00 GT=0/1;AD=25:23;AB=0.48 PM20D1 NM_152491.4,NR_135186.1 missense_variant,non_coding_transcript_exon_variant|- p.Pro281Gln,.|- c.842C>A,n.918C>A|- 7/13,7/12|- False True no no rs141605758 52 643 1406 147 0.0040 0.00530 0.00571 0.00475 3 0 . . . . . . . 24.8 0.927 4.94 76,. 0.432 0.000 . . .
chr1:207135630 C/T chr1:g.207135630C>T . GT=0/1;AD=90:66;AB=0.42 GT=0/0;AD=102:0;AB=0.00 GT=0/1;AD=26:27;AB=0.51 FCAMR NM_001170631.1,NM_001122979.2,NM_032029.4 missense_variant,missense_variant,missense_variant|-|- p.Gly194Arg,p.Gly194Arg,p.Gly194Arg|-|- c.580G>A,c.580G>A,c.580G>A|-|- 5/8,6/8,5/7|-|- False True no no rs367804054 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 28.7 1.0,1.0,1.0,1.0 5.87 125,125,125 0.994 0.000 . . .
chr1:214557048 GCCT/G chr1:g.214557049_214557051delCCT . GT=0/1;AD=148:19;AB=0.11 GT=0/0;AD=102:5;AB=0.05 GT=0/0;AD=78:2;AB=0.03 PTPN14 NM_005401.4 disruptive_inframe_deletion p.Glu716del c.2147_2149delAGG 13/19 False True yes no rs143136196 . . . . 0.0000 0.00000 0.00000 0.00000 1 1 Choanal_atresia_and_lymphedema,_613611_(3),_Autosomal_recessive AR . . . . COSM251272 . . . . 1.807 0.195 Imprinted_genes_predicted . .
chr1:228548271 C/T chr1:g.228548271C>T . GT=0/1;AD=94:83;AB=0.47 GT=0/0;AD=131:0;AB=0.00 GT=0/1;AD=38:32;AB=0.46 OBSCN NM_052843.3,NM_001271223.2,NM_001098623.2 missense_variant,intron_variant,intron_variant|-|- p.Arg6560Trp,.,.|-|- c.19678C>T,c.21533-2006C>T,c.18662-2006C>T|-|- 81/81,90/115,79/104|-|- False True no no rs781383886 0 3 12 4 0.0000 0.00003 0.00005 0.00013 2 0 . . . . . . . 4.859 0.849 -1.61 101,.,. -0.391 0.000 Imprinted_genes_predicted . .
chr1:228698343 T/G chr1:g.228698343T>G . GT=0/1;AD=67:47;AB=0.41 GT=0/1;AD=35:25;AB=0.42 GT=0/0;AD=42:0;AB=0.00 BTNL10 NM_001287262.1 missense_variant p.Gln115Pro c.344A>C 3/3 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 2.892 . -1.58 76 . . . . .
chr1:236180498 C/T chr1:g.236180498C>T . GT=0/1;AD=79:64;AB=0.45 GT=0/1;AD=46:53;AB=0.54 GT=0/0;AD=78:0;AB=0.00 NID1 NM_002508.2 missense_variant p.Arg735His c.2204G>A 10/20 False True no yes rs140374909 46 1055 2226 171 0.0035 0.00869 0.00904 0.00552 4 1 . . . . . . COSM1239591 21.8 0.562 5.93 29 0.595 0.000 . . .
chr1:236187442 G/A chr1:g.236187442G>A . GT=0/1;AD=85:91;AB=0.52 GT=0/0;AD=109:0;AB=0.00 GT=0/1;AD=31:27;AB=0.47 NID1 NM_002508.2 missense_variant p.Arg686Cys c.2056C>T 9/20 False True no yes rs776945421 0 1 5 . 0.0000 0.00001 0.00002 0.00000 2 0 . . . . . . . 25.8 1.0,0.998 5.85 180 0.595 0.000 . . .
chr1:247013576 A/G chr1:g.247013576A>G . GT=0/1;AD=64:62;AB=0.49 GT=0/1;AD=47:47;AB=0.50 GT=0/0;AD=63:0;AB=0.00 AHCTF1 NM_015446.4,NM_001323342.1,NM_001323343.1,NR_136586.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|- p.Leu1920Ser,p.Leu1911Ser,p.Leu1911Ser,.|-|-|- c.5759T>C,c.5732T>C,c.5732T>C,n.6274T>C|-|-|- 33/36,33/36,33/36,34/37|-|-|- False True no yes rs184863324 1 103 192 13 0.0001 0.00085 0.00078 0.00042 2 0 . . . . . . . 12.04 0.383,0.112,0.068 0.671 145,145,145,. -0.311 1.000 . . .
chr1:247067327 T/C chr1:g.247067327T>C . GT=0/1;AD=61:50;AB=0.45 GT=0/1;AD=41:32;AB=0.44 GT=0/0;AD=59:0;AB=0.00 AHCTF1 NM_015446.4,NM_001323342.1,NM_001323343.1,NR_136586.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|- p.Asp306Gly,p.Asp297Gly,p.Asp297Gly,.|-|-|- c.917A>G,c.890A>G,c.890A>G,n.1298A>G|-|-|- 7/36,7/36,7/36,7/37|-|-|- False True no yes rs199635904 1 108 194 11 0.0001 0.00089 0.00079 0.00036 2 0 . . . . . . . 28.8 0.997,1.0 5.37 94,94,94,. -0.311 1.000 . . .
chr1:248487813 G/T chr1:g.248487813G>T . GT=0/1;AD=119:106;AB=0.47 GT=0/1;AD=57:60;AB=0.51 GT=0/0;AD=83:0;AB=0.00 OR2M7 NM_001004691.1 missense_variant p.His20Asn c.58C>A 1/1 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 0.759 0.988 -0.338 68 -0.806 . . . .
chr2:20867205 G/A chr2:g.20867205G>A . GT=0/1;AD=30:36;AB=0.55 GT=0/0;AD=35:0;AB=0.00 GT=0/1;AD=20:20;AB=0.50 GDF7 NM_182828.3 missense_variant p.Arg69Gln c.206G>A 1/2 False True no no rs1280018535 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 12.31 0.005 2.3 43 1.849 0.622 . . .
chr2:24974856 G/A chr2:g.24974856G>A . GT=0/1;AD=58:57;AB=0.50 GT=0/1;AD=30:31;AB=0.51 GT=0/0;AD=52:0;AB=0.00 NCOA1 NM_003743.4,NM_147223.2,NM_147233.2 missense_variant,missense_variant,missense_variant|-|- p.Val1238Ile,p.Val1238Ile,p.Val1238Ile|-|- c.3712G>A,c.3712G>A,c.3712G>A|-|- 18/21,18/22,18/21|-|- False True no no rs56099330 7 19 44 17 0.0005 0.00016 0.00018 0.00055 2 0 . . . . . . . 16.55 0.0,0.0,0.0,0.0,0.0 3.54 29,29,29 2.494 1.000 . . .
chr2:27800509 G/A chr2:g.27800509G>A . GT=0/1;AD=82:87;AB=0.52 GT=0/0;AD=72:0;AB=0.00 GT=0/1;AD=34:28;AB=0.45 C2orf16 NM_032266.3 missense_variant p.Arg357Gln c.1070G>A 1/1 False True no no rs368267439 1 2 6 1 0.0001 0.00002 0.00002 0.00003 2 0 . . . . . . COSM3426363|COSM3426364 4.844 0.003 1.85 43 0.609 0.000 . . .
chr2:37215890 G/C chr2:g.37215890G>C . GT=0/1;AD=82:73;AB=0.47 GT=0/1;AD=50:40;AB=0.44 GT=0/0;AD=79:0;AB=0.00 HEATR5B NM_019024.2 missense_variant p.Ala1937Gly c.5810C>G 35/36 False True no no rs879331965 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.6 0.01,0.001 5.27 60 2.300 0.000 . . .
chr2:38960696 T/A chr2:g.38960696T>A . GT=0/1;AD=44:40;AB=0.48 GT=0/1;AD=31:24;AB=0.44 GT=0/0;AD=40:0;AB=0.00 GALM NM_138801.2 missense_variant p.Ser340Thr c.1018T>A 7/7 False True no no rs767014406 0 2 2 . 0.0000 0.00002 0.00001 0.00000 2 0 . . . . . . . 20.3 0.009 5.27 58 -0.100 0.000 . . .
chr2:44566504 TAG/T chr2:g.44566505_44566506delAG . GT=0/1;AD=50:7;AB=0.12 GT=0/0;AD=30:1;AB=0.03 GT=0/0;AD=35:2;AB=0.05 PREPL NM_001171603.1,NM_001042385.2,NM_001042386.2,NM_006036.4,NM_001171606.1,NM_001171613.1,NM_001171617.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|-|-|- .,.,.,.,.,.,.|-|-|-|-|-|- c.753-4_753-3delCT,c.753-4_753-3delCT,c.753-4_753-3delCT,c.753-4_753-3delCT,c.753-4_753-3delCT,c.486-4_486-3delCT,c.486-4_486-3delCT|-|-|-|-|-|- 6/14,5/12,5/12,5/13,6/14,5/13,5/13|-|-|-|-|-|- False True no no rs761713680 . . . . 0.0000 0.00000 0.00000 0.00000 4 0 Myasthenic_syndrome,_congenital,_22,_616224_(3),_Autosomal_recessive AR . . . . COSM6243162 . . . .,.,.,.,.,.,. -2.604 0.000 . . .
chr2:48734402 A/G chr2:g.48734402A>G . GT=0/1;AD=37:49;AB=0.57 GT=0/1;AD=20:36;AB=0.64 GT=0/0;AD=29:0;AB=0.00 PPP1R21 NM_001135629.2,NM_001193475.1,NM_152994.4,NR_024188.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.1969-6A>G,c.1843-6A>G,c.1936-6A>G,n.2193-6A>G|-|-|- 18/21,16/19,17/20,18/21|-|-|- False True no no rs200516432 15 112 189 30 0.0012 0.00095 0.00102 0.00109 2 1 . . . . . . . . . . .,.,.,. -2.001 0.000 . . .
chr2:62096591 A/T chr2:g.62096591A>T . GT=0/1;AD=50:52;AB=0.51 GT=0/0;AD=68:0;AB=0.00 GT=0/1;AD=20:24;AB=0.55 CCT4 NM_006430.3,NM_001256721.1 missense_variant,missense_variant|- p.Leu530Gln,p.Leu500Gln|- c.1589T>A,c.1499T>A|- 13/14,12/13|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.8 1.0,1.0 4.76 113,113 1.075 0.999 . . .
chr2:65216842 C/T chr2:g.65216842C>T . GT=0/1;AD=99:94;AB=0.49 GT=0/1;AD=51:42;AB=0.45 GT=0/0;AD=78:0;AB=0.00 SLC1A4 NM_003038.4,NM_001193493.1 missense_variant,intron_variant|- p.Pro22Leu,.|- c.65C>T,c.-134+1088C>T|- 1/8,1/6|- False True no no rs201175768 9 65 158 11 0.0008 0.00128 0.00115 0.00036 2 0 Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly,_616657_(3),_Autosomal_recessive AR . . . . . 15.31 0.1,0.1 3.76 98,. 1.859 0.064 . . .
chr2:68740673 T/G chr2:g.68740673T>G . GT=0/1;AD=47:48;AB=0.51 GT=0/1;AD=38:28;AB=0.42 GT=0/0;AD=49:0;AB=0.00 APLF NM_173545.2 splice_region_variant&intron_variant . c.490-7T>G 4/9 False True no no rs766121942 0 1 4 . 0.0000 0.00001 0.00002 0.00000 2 0 . . . . . . . . . . . 0.123 0.000 . . .
chr2:69177359 T/C chr2:g.69177359T>C . GT=0/1;AD=77:72;AB=0.48 GT=0/0;AD=98:0;AB=0.00 GT=0/1;AD=30:25;AB=0.46 GKN2 NM_182536.2 missense_variant p.Asn35Asp c.103A>G 3/6 False True no no rs149153999 4 29 72 11 0.0003 0.00024 0.00029 0.00036 2 0 . . . . . . . 5.828 0.255,0.255 0.244 23 -0.673 0.000 . . .
chr2:69703089 T/A chr2:g.69703089T>A . GT=0/1;AD=83:77;AB=0.48 GT=0/0;AD=101:0;AB=0.00 GT=0/1;AD=37:30;AB=0.45 AAK1 NM_014911.3 missense_variant p.His933Leu c.2798A>T 22/22 False True no no rs1168615184 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 28.9 0.998 6.17 99 2.731 1.000 . . .
chr2:96525610 T/C chr2:g.96525610T>C . GT=0/1;AD=205:30;AB=0.13 GT=0/1;AD=145:17;AB=0.10 GT=0/0;AD=131:0;AB=0.00 ANKRD36C NM_001310154.1 missense_variant&splice_region_variant p.Arg1665Gly c.4993A>G 82/89 False True no no rs750486232 0 106 28 9 0.0000 0.00470 0.00018 0.00030 3 0 . . . . . . . 13.25 0.909 -1.22 125 . . . . .
chr2:98128338 G/A chr2:g.98128338G>A . GT=0/1;AD=91:12;AB=0.12 GT=0/0;AD=93:0;AB=0.00 GT=0/0;AD=42:2;AB=0.04 ANKRD36B NM_025190.3 missense_variant p.Arg995Trp c.2983C>T 39/44 False True yes no rs1271378769 . . 2 0 0.0000 0.00000 0.00003 0.00000 2 2 . . . . . . . . . . 101 . . . chr2:98127599:98166079:DEL .
chr2:98999847 G/A chr2:g.98999847G>A . GT=0/1;AD=71:78;AB=0.52 GT=0/1;AD=48:33;AB=0.41 GT=0/0;AD=49:0;AB=0.00 CNGA3 NM_001298.2,NM_001079878.1 splice_region_variant&intron_variant,intron_variant|- .,.|- c.396-4G>A,c.395+3030G>A|- 4/7,4/6|- False True no no rs114951127 59 209 408 92 0.0045 0.00173 0.00166 0.00298 2 0 Achromatopsia_2,_216900_(3),_Autosomal_recessive AR . . . Uncertain_significance . . . . .,. -0.009 0.000 . . .
chr2:105984140 G/A chr2:g.105984140G>A . GT=0/1;AD=72:53;AB=0.42 GT=0/0;AD=86:0;AB=0.00 GT=0/1;AD=30:19;AB=0.39 FHL2 NM_001039492.2,NM_001318896.1,NM_001318899.1,NM_001318895.1,NM_001318898.1,NM_001450.3,NM_201555.1,NM_001318894.1,NM_001318897.1,NM_201557.3 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|-|-|-|- p.His130Tyr,p.His130Tyr,p.His22Tyr,p.His130Tyr,p.His16Tyr,p.His130Tyr,p.His130Tyr,p.His130Tyr,p.His16Tyr,p.His130Tyr|-|-|-|-|-|-|-|-|- c.388C>T,c.388C>T,c.64C>T,c.388C>T,c.46C>T,c.388C>T,c.388C>T,c.388C>T,c.46C>T,c.388C>T|-|-|-|-|-|-|-|-|- 5/7,4/6,6/8,5/7,4/6,4/6,6/8,4/6,3/5,4/6|-|-|-|-|-|-|-|-|- False True no no rs983602593 . . 1 1 0.0000 0.00000 0.00000 0.00003 2 0 . . . . . . . 21.1 0.001,0.0,0.002,0.001 4.71 83,83,83,83,83,83,83,83,83,83 0.956 0.000 . . .
chr2:110015149 G/T chr2:g.110015149G>T . GT=0/1;AD=78:80;AB=0.51 GT=0/0;AD=77:1;AB=0.01 GT=0/1;AD=32:36;AB=0.53 SH3RF3 NM_001099289.2 missense_variant p.Ser350Ile c.1049G>T 4/10 False True no no rs369969380 1 5 5 2 0.0001 0.00006 0.00002 0.00006 2 0 . . . . . . . 12.17 0.744 -1.04 142 1.664 0.114 . . .
chr2:112732915 C/T chr2:g.112732915C>T . GT=0/1;AD=83:73;AB=0.47 GT=0/1;AD=44:44;AB=0.50 GT=0/0;AD=55:1;AB=0.02 MERTK NM_006343.2 missense_variant p.Thr337Ile c.1010C>T 7/19 False True no no rs775153333 0 1 3 . 0.0000 0.00001 0.00001 0.00000 2 0 Retinitis_pigmentosa_38,_613862_(3),_Autosomal_recessive AR . . . . . 19.53 0.978 5.78 89 0.655 0.000 . . .
chr2:120889186 C/T chr2:g.120889186C>T . GT=0/1;AD=56:10;AB=0.15 GT=0/0;AD=28:4;AB=0.12 GT=0/0;AD=24:2;AB=0.08 EPB41L5 NM_020909.3,NM_001184937.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.1502-8C>T,c.1502-8C>T|- 17/24,17/23|- False True no no rs748221599 0 121 175 48 0.0000 0.00101 0.00075 0.00175 4 0 . . . . . . . . . . .,. 0.213 0.025 . . .
chr2:125547599 C/T chr2:g.125547599C>T . GT=0/1;AD=63:85;AB=0.57 GT=0/1;AD=53:54;AB=0.51 GT=0/0;AD=55:0;AB=0.00 CNTNAP5 NM_130773.3 missense_variant p.Pro957Leu c.2870C>T 18/24 False True no no rs200361177 6 45 93 17 0.0005 0.00037 0.00038 0.00055 2 0 . . . . . . COSM4988558 24.8 0.008 5.24 98 0.503 0.993 . . .
chr2:131103134 G/A chr2:g.131103134G>A . GT=0/1;AD=75:58;AB=0.44 GT=0/1;AD=45:48;AB=0.52 GT=0/0;AD=54:0;AB=0.00 IMP4 NM_033416.2,NM_001320304.1,NM_001320305.1,NM_001320306.1,NM_001320307.1,NM_001320309.1,NM_001320310.1,NM_001320311.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,intron_variant|-|-|-|-|-|-|- .,.,.,.,.,.,.,.|-|-|-|-|-|-|- c.307-6G>A,c.301-6G>A,c.253-6G>A,c.142-6G>A,c.142-6G>A,c.52-6G>A,c.52-6G>A,c.52-15G>A|-|-|-|-|-|-|- 4/8,4/8,4/8,4/8,4/8,3/7,4/8,4/8|-|-|-|-|-|-|- False True no no rs116075441 75 249 404 176 0.0058 0.00206 0.00164 0.00569 2 0 . . . . . . . . . . .,.,.,.,.,.,.,. 0.390 0.000 . . .
chr2:132010570 G/T chr2:g.132010570G>T . GT=0/1;AD=120:50;AB=0.29 GT=0/1;AD=75:20;AB=0.21 GT=0/0;AD=68:0;AB=0.00 POTEE NM_001083538.1 missense_variant p.Gly559Val c.1676G>T 13/15 False True no no rs201809555 88 202 409 215 0.0069 0.00407 0.00276 0.00738 2 0 . . . . . . . 0.040 0.743 -1.14 109 -2.392 0.001 . . .
chr2:135738715 A/G chr2:g.135738715A>G . GT=0/1;AD=69:80;AB=0.54 GT=0/0;AD=87:0;AB=0.00 GT=0/1;AD=32:42;AB=0.57 MAP3K19 NM_025052.4,NM_001018044.2,NM_001018046.2,NM_001018047.2,NM_001282883.1,NM_001321177.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,3_prime_UTR_variant|-|-|-|-|- p.Ile1199Thr,p.Ile1086Thr,p.Ile381Thr,p.Ile333Thr,p.Ile331Thr,.|-|-|-|-|- c.3596T>C,c.3257T>C,c.1142T>C,c.998T>C,c.992T>C,c.*340T>C|-|-|-|-|- 9/10,7/8,8/9,8/9,7/8,10/10|-|-|-|-|- False True no no rs56284052 18 152 318 27 0.0014 0.00125 0.00129 0.00087 2 1 . . . . . . . 22.3 0.145,0.629,0.459,0.459,0.679 4.72 89,89,89,89,89,. 0.886 0.000 . . .
chr2:144193151 C/CT,CTT,CTTT chr2:g.144193151_144193152insT,chr2:g.144193151_144193152insTT,chr2:g.144193151_144193152insTTT Multiallelic GT=0/3;AD=3:0:0:10;AB=0.00:0.00:0.77 GT=0/2;AD=1:0:1:0;AB=0.00:0.50:0.00 GT=0/0;AD=2:2:2:2;AB=0.25:0.25:0.25 ARHGAP15 NM_018460.3 -|splice_region_variant&intron_variant|splice_region_variant&intron_variant -|.|. -|c.475-6_475-5dupTT|c.475-7_475-5dupTTT -|6/13|6/13 False True no no rs11438710 .,.,. .,.,. .,.,. .,.,. 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 26:16:2 46:18:1 . . . . . . . . . . .,.,. 0.135 0.000 . . .
chr2:152988622 T/C chr2:g.152988622T>C . GT=0/1;AD=40:44;AB=0.52 GT=0/0;AD=66:0;AB=0.00 GT=0/1;AD=22:20;AB=0.48 STAM2 NM_005843.5 splice_region_variant&intron_variant . c.1025+6A>G 11/13 False True no no rs371980240 1 7 21 . 0.0001 0.00006 0.00009 0.00000 2 0 . . . . . . . . . . . 0.369 0.000 . . .
chr2:160053303 C/T chr2:g.160053303C>T . GT=0/1;AD=47:62;AB=0.57 GT=0/1;AD=26:32;AB=0.55 GT=0/0;AD=38:0;AB=0.00 TANC1 NM_033394.2,NM_001145909.1 missense_variant&splice_region_variant,missense_variant&splice_region_variant|- p.Ser1055Leu,p.Ser1047Leu|- c.3164C>T,c.3140C>T|- 18/27,18/27|- False True no no rs770028218 0 4 8 1 0.0000 0.00004 0.00003 0.00003 2 0 . . . . . . . 22.7 0.0,0.0,0.002 -1.3 145,145 1.428 0.001 . . .
chr2:160884722 C/T chr2:g.160884722C>T . GT=0/1;AD=27:44;AB=0.62 GT=0/1;AD=21:22;AB=0.51 GT=0/0;AD=38:0;AB=0.00 PLA2R1 NM_007366.4,NM_001195641.1,NM_001007267.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|- .,.,.|-|- c.1099+7G>A,c.1099+7G>A,c.1099+7G>A|-|- 6/29,6/29,6/26|-|- False True no no rs142160646 43 192 331 57 0.0033 0.00159 0.00151 0.00184 3 2 . . . . . . . . . . .,.,. 0.477 0.000 . . .
chr2:162081128 AT/A,ATT chr2:g.162081129delT,chr2:g.162081129delT Multiallelic GT=0/2;AD=23:0:15;AB=0.00:0.40 GT=0/2;AD=15:0:6;AB=0.00:0.29 GT=0/0;AD=23:3:3;AB=0.10:0.10 LOC101929512,TANK NM_001199135.1,NM_004180.2,NR_110593.1 -|splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,intron_variant|-|-|-|- -|.,.,.|-|-|-|- -|c.405-3dupT,c.405-3dupT,n.349-1136dupA|-|-|-|- -|5/7,5/7,3/3|-|-|-|- True True no no rs551273211;rs772679482 .,. .,. .,. 31,26 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00110:0.00093 7:4 5:0 . . . . . . . . . . .,.,.,.,.,. .,1.396 .,0.852 . . .
chr2:170050410 G/A chr2:g.170050410G>A . GT=0/1;AD=31:42;AB=0.57 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=15:18;AB=0.55 LRP2 NM_004525.2 splice_region_variant&intron_variant . c.8699-8C>T 46/78 False True no no rs145301652 65 641 1305 184 0.0050 0.00528 0.00530 0.00594 3 1 Donnai-Barrow_syndrome,_222448_(3),_Autosomal_recessive AR . . . Uncertain_significance COSM5020968 . . . . 2.537 1.000 . . .
chr2:170502503 C/T chr2:g.170502503C>T . GT=0/1;AD=88:69;AB=0.44 GT=0/1;AD=48:46;AB=0.49 GT=0/0;AD=81:0;AB=0.00 CCDC173 NM_001085447.1 missense_variant p.Gly503Ser c.1507G>A 9/9 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.4 0.802 3.95 56 0.279 0.000 . . .
chr2:175622727 G/A chr2:g.175622727G>A . GT=0/1;AD=73:59;AB=0.45 GT=0/1;AD=30:49;AB=0.62 GT=0/0;AD=46:0;AB=0.00 CHRNA1 NM_001039523.2,NM_000079.3 missense_variant,intron_variant|- p.Arg86Cys,.|- c.256C>T,c.235-324C>T|- 4/10,3/8|- False True no no rs75536736 5 18 26 9 0.0004 0.00015 0.00011 0.00029 2 0 Multiple_pterygium_syndrome,_lethal_type,_253290_(3),_Autosomal_recessive|Myasthenic_syndrome,_congenital,_1A,_slow-channel,_601462_(3),_Autosomal_dominant|Myasthenic_syndrome,_congenital,_1B,_fast-channel,_608930_(3),_Autosomal_recessive,_Autosomal_dominant AR|AD|AR,AD . . . . COSM243692 4.643 0.006 -1.68 180,. 0.853 0.000 . . .
chr2:176948111 C/G chr2:g.176948111C>G . GT=0/1;AD=66:51;AB=0.44 GT=0/1;AD=46:39;AB=0.46 GT=0/0;AD=65:0;AB=0.00 EVX2 NM_001080458.1 missense_variant p.Gly132Arg c.394G>C 1/3 False True no no rs201278449 12 22 34 22 0.0009 0.00037 0.00015 0.00071 2 0 . . . . . . . 10.67 0.465 4.36 125 0.266 0.384 . . .
chr2:179414177 G/A chr2:g.179414177G>A . GT=0/1;AD=64:57;AB=0.47 GT=0/0;AD=65:0;AB=0.00 GT=0/1;AD=23:19;AB=0.45 MIR548N,TTN,TTN-AS1 NM_001267550.2,NM_001256850.1,NM_133437.4,NM_003319.4,NM_133378.4,NM_133432.3,NR_031666.1,NR_038272.1,NR_038271.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|- p.Pro30726Ser,p.Pro29085Ser,p.Pro21853Ser,p.Pro21661Ser,p.Pro28158Ser,p.Pro21786Ser,.,.,.|-|-|-|-|-|-|-|- c.92176C>T,c.87253C>T,c.65557C>T,c.64981C>T,c.84472C>T,c.65356C>T,n.37-79338G>A,n.2043+7089G>A,n.447-21850G>A|-|-|-|-|-|-|-|- 339/363,289/313,168/192,167/191,288/312,168/192,3/4,7/16,1/6|-|-|-|-|-|-|-|- False True no yes rs72648247 21 295 640 58 0.0017 0.00248 0.00264 0.00187 4 0 .,Cardiomyopathy,_dilated,_1G,_604145_(3)|Cardiomyopathy,_familial_hypertrophic,_9,_613765_(3),_Autosomal_dominant|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_10,_608807_(3),_Autosomal_recessive|Myopathy,_proximal,_with_early_respiratory_muscle_involvement,_603689_(3)|Salih_myopathy,_611705_(3),_Autosomal_recessive|Tibial_muscular_dystrophy,_tardive,_600334_(3),_Autosomal_dominant,. .|AD|AR|.|AR|AD,. . . . Conflicting_interpretations_of_pathogenicity . 16.74 1.0,1.0,1.0,1.0 5.73 74,74,74,74,74,74,.,.,. .,0.517,. .,0.000,. . . .
chr2:179599473 C/G chr2:g.179599473C>G . GT=0/1;AD=79:70;AB=0.47 GT=0/0;AD=115:1;AB=0.01 GT=0/1;AD=38:38;AB=0.50 TTN NM_001267550.2,NM_001256850.1,NM_133378.4,NM_133437.4,NM_003319.4,NM_133432.3 missense_variant,missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- p.Val5060Leu,p.Val4743Leu,p.Val3816Leu,.,.,.|-|-|-|-|- c.15178G>C,c.14227G>C,c.11446G>C,c.13858+3336G>C,c.13282+3336G>C,c.13657+3336G>C|-|-|-|-|- 51/363,49/313,48/312,47/191,46/190,47/191|-|-|-|-|- False True no yes rs72648929 33 423 814 62 0.0028 0.00351 0.00332 0.00200 2 1 Cardiomyopathy,_dilated,_1G,_604145_(3)|Cardiomyopathy,_familial_hypertrophic,_9,_613765_(3),_Autosomal_dominant|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_10,_608807_(3),_Autosomal_recessive|Myopathy,_proximal,_with_early_respiratory_muscle_involvement,_603689_(3)|Salih_myopathy,_611705_(3),_Autosomal_recessive|Tibial_muscular_dystrophy,_tardive,_600334_(3),_Autosomal_dominant .|AD|AR|.|AR|AD . . . Conflicting_interpretations_of_pathogenicity . 12.82 0.708 5.67 32,32,32,.,.,. 0.517 0.000 . . .
chr2:187540374 G/A chr2:g.187540374G>A . GT=0/1;AD=67:36;AB=0.35 GT=0/1;AD=47:44;AB=0.48 GT=0/0;AD=43:0;AB=0.00 ITGAV NM_002210.4,NM_001145000.2,NM_001144999.2 missense_variant,missense_variant,missense_variant|-|- p.Gly917Glu,p.Gly881Glu,p.Gly871Glu|-|- c.2750G>A,c.2642G>A,c.2612G>A|-|- 27/30,25/28,27/30|-|- False True no no rs201617888 0 2 5 4 0.0000 0.00002 0.00002 0.00013 2 0 . . . . . . . 17.42,17.42 1.0,1.0,1.0,. 5.4,5.4 98,98,98 1.034 0.000 . . .
chr2:219603082 C/T chr2:g.219603082C>T . GT=0/1;AD=89:99;AB=0.53 GT=0/0;AD=116:0;AB=0.00 GT=0/1;AD=50:32;AB=0.39 TTLL4 NM_014640.4 missense_variant p.Thr228Met c.683C>T 3/20 False True no no rs149683573 15 67 153 48 0.0012 0.00055 0.00062 0.00155 2 1 . . . . . . . 26.9 1.0,1.0,1.0 4.23 81 0.827 0.000 . . .
chr2:220337817 C/T chr2:g.220337817C>T . GT=0/1;AD=53:48;AB=0.47 GT=0/1;AD=33:20;AB=0.38 GT=0/0;AD=39:0;AB=0.00 SPEG NM_005876.4 splice_region_variant&synonymous_variant p.His1382His c.4146C>T 16/41 False True no no rs528632562 0 11 45 4 0.0000 0.00010 0.00019 0.00013 4 1 Centronuclear_myopathy_5,_615959_(3),_Autosomal_recessive AR . . . . . . . . . 3.032 0.830 . . .
chr2:220418334 C/A chr2:g.220418334C>A . GT=0/1;AD=61:74;AB=0.55 GT=0/0;AD=91:0;AB=0.00 GT=0/1;AD=20:23;AB=0.54 OBSL1 NM_015311.2 stop_gained p.Glu1651* c.4951G>T 16/21 True True no no rs140825693 11 191 399 114 0.0009 0.00162 0.00162 0.00368 2 0 3-M_syndrome_2,_612921_(3) . . . . . . 22.5 . 3.33 . 0.205 0.000 . . .
chr2:233710604 T/C chr2:g.233710604T>C . GT=0/1;AD=33:45;AB=0.58 GT=0/1;AD=31:32;AB=0.51 GT=0/0;AD=45:0;AB=0.00 GIGYF2 NM_001103147.1,NM_001103146.1,NM_001103148.1,NM_015575.3,NR_103492.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,intron_variant|-|-|-|- .,.,.,.,.|-|-|-|- c.3523+8T>C,c.3460+8T>C,c.3442+8T>C,c.3460+8T>C,n.3418+1320T>C|-|-|-|- 28/30,26/28,25/27,28/30,24/26|-|-|-|- False True no no rs544335183 0 7 18 1 0.0000 0.00006 0.00007 0.00003 2 0 {Parkinson_disease_11},_607688_(3) . . . . . . . . . .,.,.,.,. 2.470 1.000 . . .
chr2:240111663 G/C chr2:g.240111663G>C . GT=0/1;AD=70:68;AB=0.49 GT=0/1;AD=35:32;AB=0.48 GT=0/0;AD=46:0;AB=0.00 HDAC4 NM_006037.3 missense_variant p.Gln69Glu c.205C>G 4/27 False True no no rs747047838 0 3 8 . 0.0000 0.00003 0.00003 0.00000 2 0 . . . . . . . 23.0 0.826,0.629,0.625,0.625,0.78 4.42 29 3.081 1.000 . . .
chr2:241500297 C/G chr2:g.241500297C>G . GT=0/1;AD=64:51;AB=0.44 GT=0/1;AD=30:47;AB=0.61 GT=0/0;AD=49:0;AB=0.00 ANKMY1,DUSP28 NM_001033575.1,NM_001308375.1 missense_variant,missense_variant|- p.Leu66Val,p.Ser24Thr|- c.196C>G,c.71G>C|- 1/3,1/15|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.4,21.4 0.854,. 2.71,2.71 32,58 -0.139,-0.867 0.000,0.179 . . .
chr2:241619834 G/A chr2:g.241619834G>A . GT=0/1;AD=20:6;AB=0.23 GT=0/1;AD=21:6;AB=0.22 GT=0/0;AD=18:0;AB=0.00 AQP12B NM_001102467.1 missense_variant p.Thr220Ile c.659C>T 2/3 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 12.87 1.0 2.16 89 -1.373 0.002 . . .
chr2:241835300 C/T chr2:g.241835300C>T . GT=0/1;AD=89:96;AB=0.52 GT=0/1;AD=55:62;AB=0.53 GT=0/0;AD=74:0;AB=0.00 C2orf54 NM_001085437.2 missense_variant p.Ala39Thr c.115G>A 1/5 False True no no rs200707608 46 123 215 97 0.0036 0.00130 0.00113 0.00313 2 0 . . . . . . COSM6355969 16.02 0.572 4.38 58 0.035 0.000 . . .
chr2:242415273 C/T chr2:g.242415273C>T . GT=0/1;AD=38:42;AB=0.53 GT=0/1;AD=20:30;AB=0.60 GT=0/0;AD=35:0;AB=0.00 FARP2 NM_014808.3 splice_region_variant&synonymous_variant p.Asp711Asp c.2133C>T 19/27 False True no no rs200231358 1 5 9 2 0.0001 0.00005 0.00004 0.00006 2 0 . . . . . . . . . . . -0.319 0.000 . . .
chr2:242610729 G/A chr2:g.242610729G>A . GT=0/1;AD=32:54;AB=0.63 GT=0/0;AD=53:0;AB=0.00 GT=0/1;AD=17:22;AB=0.56 ATG4B NM_013325.4,NM_178326.2 splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant|- p.Leu339Leu,p.Leu339Leu|- c.1017G>A,c.1017G>A|- 12/13,12/13|- False True no no rs147409061 77 715 1448 158 0.0061 0.00739 0.00594 0.00511 4 0 . . . . . . . . . . .,. 1.508 0.991 . . .
chr2:242755808 C/G chr2:g.242755808C>G . GT=0/1;AD=117:108;AB=0.48 GT=0/1;AD=76:87;AB=0.53 GT=0/0;AD=97:0;AB=0.00 NEU4 NM_001167599.2,NM_001167600.2,NM_001167601.2,NM_001167602.2,NM_080741.3 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Arg56Gly,p.Arg43Gly,p.Arg43Gly,p.Arg43Gly,p.Arg55Gly|-|-|-|- c.166C>G,c.127C>G,c.127C>G,c.127C>G,c.163C>G|-|-|-|- 2/4,2/4,2/4,3/5,2/4|-|-|-|- False True no yes . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 17.96 1.0,1.0,1.0 1.54 125,125,125,125,125 0.071 0.000 . . .
chr2:242758198 C/T chr2:g.242758198C>T . GT=0/1;AD=99:108;AB=0.52 GT=0/0;AD=135:0;AB=0.00 GT=0/1;AD=46:52;AB=0.53 NEU4 NM_001167599.2,NM_001167600.2,NM_001167601.2,NM_001167602.2,NM_080741.3 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Pro440Ser,p.Pro427Ser,p.Pro427Ser,p.Pro427Ser,p.Pro439Ser|-|-|-|- c.1318C>T,c.1279C>T,c.1279C>T,c.1279C>T,c.1315C>T|-|-|-|- 4/4,4/4,4/4,5/5,4/4|-|-|-|- False True no yes rs373540592 1 4 11 1 0.0001 0.00004 0.00005 0.00003 2 0 . . . . . . . 8.822 0.024,0.041,0.014 1.98 74,74,74,74,74 0.071 0.000 . . .
chr3:4459755 C/G chr3:g.4459755C>G . GT=0/1;AD=78:73;AB=0.48 GT=0/0;AD=84:0;AB=0.00 GT=0/1;AD=22:22;AB=0.50 SUMF1 NM_182760.3,NM_001164674.1,NM_001164675.1 missense_variant,missense_variant,missense_variant|-|- p.Gly222Arg,p.Gly197Arg,p.Gly222Arg|-|- c.664G>C,c.589G>C,c.664G>C|-|- 5/9,4/8,5/8|-|- False True no no rs137917233 27 193 410 40 0.0021 0.00159 0.00167 0.00129 2 1 Multiple_sulfatase_deficiency,_272200_(3),_Autosomal_recessive AR . . . Uncertain_significance . 15.26 0.643,0.621,0.979 6.13 125,125,125 -0.419 0.000 . . .
chr3:14200382 G/T chr3:g.14200382G>T . GT=0/1;AD=58:49;AB=0.46 GT=0/1;AD=30:32;AB=0.52 GT=0/0;AD=46:0;AB=0.00 XPC NM_004628.4,NR_027299.1 missense_variant,non_coding_transcript_exon_variant|- p.Pro334His,.|- c.1001C>A,n.981C>A|- 9/16,8/15|- False True no no rs74737358 91 345 622 216 0.0088 0.00286 0.00255 0.00698 4 0 Xeroderma_pigmentosum,_group_C,_278720_(3),_Autosomal_recessive AR . DM "Xeroderma_pigmentosum_(C)" Pathogenic . 11.61 0.776,0.855 3.1 77,. 0.759 0.000 . . .
chr3:38768342 C/G chr3:g.38768342C>G . GT=0/1;AD=70:66;AB=0.48 GT=0/0;AD=93:0;AB=0.00 GT=0/1;AD=29:38;AB=0.57 SCN10A NM_006514.3,NM_001293306.2,NM_001293307.2 missense_variant,missense_variant,missense_variant|-|- p.Val948Leu,p.Val948Leu,p.Val850Leu|-|- c.2842G>C,c.2842G>C,c.2548G>C|-|- 16/27,16/27,15/26|-|- False True no no rs145694222 14 60 123 10 0.0011 0.00049 0.00050 0.00032 2 2 Episodic_pain_syndrome,_familial,_2,_615551_(3),_Autosomal_dominant AD . DM? "Infantile_spasms" Uncertain_significance . 13.34 0.12 2.5 32,32,32 -0.596 0.000 . . .
chr3:39431077 G/A chr3:g.39431077G>A . GT=0/1;AD=42:29;AB=0.41 GT=0/0;AD=56:0;AB=0.00 GT=0/1;AD=10:15;AB=0.60 SLC25A38 NM_017875.2 missense_variant p.Arg54His c.161G>A 2/7 False True no no rs144319567 9 60 122 9 0.0007 0.00049 0.00050 0.00029 2 2 Anemia,_sideroblastic,_2,_pyridoxine-refractory,_205950_(3),_Autosomal_recessive AR . . . Uncertain_significance . 34 0.998 4.63 29 0.268 0.000 . . .
chr3:46751073 TAAGAAG/T,TAAG,TAAGAAGAAG chr3:g.46751074_46751079delAAGAAG,chr3:g.46751074_46751079delAAGAAG,chr3:g.46751074_46751079delAAGAAG Multiallelic GT=2/3;AD=2:3:30:19;AB=0.06:0.56:0.35 GT=2/3;AD=0:0:23:20;AB=0.00:0.54:0.47 GT=1/2;AD=0:3:29:0;AB=0.09:0.91:0.00 TMIE NM_147196.2 conservative_inframe_insertion|conservative_inframe_deletion|conservative_inframe_deletion p.Lys131dup|p.Lys130_Lys131del|p.Lys131del c.391_393dupAAG|c.388_393delAAGAAG|c.391_393delAAG 4/4|4/4|4/4 False True no no rs761382650 .,.,. .,.,. .,.,. .,.,. 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 18:52:2 0:93:2 Deafness,_autosomal_recessive_6,_600971_(3),_Autosomal_recessive AR . . . Likely_benign,.,. . . . . .,.,. 0.018 0.000 . . .
chr3:47162897 T/C chr3:g.47162897T>C . GT=0/1;AD=78:83;AB=0.52 GT=0/0;AD=132:0;AB=0.00 GT=0/1;AD=46:33;AB=0.42 SETD2 NM_014159.6 missense_variant p.Thr1077Ala c.3229A>G 3/21 False True no no rs114719990 15 86 190 22 0.0012 0.00071 0.00078 0.00071 2 0 Luscan-Lumish_syndrome,_616831_(3),_Autosomal_dominant AD . . . Likely_benign . 24.3 0.984,0.966 5.3 58 3.366 1.000 . . .
chr3:48624475 G/A chr3:g.48624475G>A . GT=0/1;AD=80:85;AB=0.52 GT=0/0;AD=88:0;AB=0.00 GT=0/1;AD=40:37;AB=0.48 COL7A1 NM_000094.3 missense_variant p.Ala1069Val c.3206C>T 24/118 False True no no rs770062578 0 3 3 . 0.0000 0.00004 0.00001 0.00000 2 0 EBD_inversa,_226600_(3),_Autosomal_recessive|EBD,_Bart_type,_132000_(3),_Autosomal_dominant|EBD,_localisata_variant_(3)|Epidermolysis_bullosa_dystrophica,_AD,_131750_(3),_Autosomal_dominant|Epidermolysis_bullosa_dystrophica,_AR,_226600_(3),_Autosomal_recessive|Epidermolysis_bullosa_pruriginosa,_604129_(3),_Autosomal_recessive,_Autosomal_dominant|Epidermolysis_bullosa,_pretibial,_131850_(3),_Autosomal_recessive,_Autosomal_dominant|Toenail_dystrophy,_isolated,_607523_(3),_Autosomal_dominant|Transient_bullous_of_the_newborn,_131705_(3),_Autosomal_recessive,_Autosomal_dominant AR|AD|.|AD|AR|AR,AD|AR,AD|AD|AR,AD . . . . . 13.97 0.929 5.04 64 1.230 0.000 . . .
chr3:49321424 T/C chr3:g.49321424T>C . GT=0/1;AD=59:65;AB=0.52 GT=0/0;AD=67:0;AB=0.00 GT=0/1;AD=22:21;AB=0.49 USP4 NM_003363.3,NM_199443.2 missense_variant,missense_variant|- p.Ile846Val,p.Ile799Val|- c.2536A>G,c.2395A>G|- 19/22,18/21|- False True no no rs41290700 67 768 1464 186 0.0052 0.00633 0.00595 0.00600 2 2 . . . . . . . 15.80,15.80 0.0,0.0,0.0,. 3.35,3.35 29,29 1.178 0.000 . . .
chr3:52514317 C/G chr3:g.52514317C>G . GT=0/1;AD=97:80;AB=0.45 GT=0/1;AD=60:45;AB=0.43 GT=0/0;AD=76:0;AB=0.00 NISCH NM_001276293.1,NM_007184.3,NM_001276294.1 missense_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|- p.Arg512Gly,.,.|-|- c.1534C>G,c.1528+6C>G,c.1528+6C>G|-|- 13/13,13/20,13/13|-|- False True no no rs373156826 1 13 23 5 0.0001 0.00011 0.00009 0.00016 2 0 . . . . . . . 13.17 0.0 0.711 125,.,. 2.302 0.999 . . .
chr3:69093681 T/A chr3:g.69093681T>A . GT=0/1;AD=58:35;AB=0.38 GT=0/0;AD=60:0;AB=0.00 GT=0/1;AD=29:14;AB=0.33 TMF1 NM_007114.2 missense_variant p.Glu471Asp c.1413A>T 3/17 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.0 0.114,0.069 4.59 45 0.443 0.000 . . .
chr3:101391010 G/T chr3:g.101391010G>T . GT=0/1;AD=61:50;AB=0.45 GT=0/0;AD=74:0;AB=0.00 GT=0/1;AD=28:26;AB=0.48 ZBTB11 NM_014415.3 missense_variant p.Gln120Lys c.358C>A 2/11 False True no no rs142875469 0 9 19 4 0.0000 0.00007 0.00008 0.00013 2 0 . . . . . . . 22.2 0.998,0.997 5.77 53 2.160 0.000 . . .
chr3:108100406 C/A chr3:g.108100406C>A . GT=0/1;AD=72:69;AB=0.49 GT=0/1;AD=29:27;AB=0.48 GT=0/0;AD=50:0;AB=0.00 MYH15 NM_014981.1 missense_variant&splice_region_variant p.Val1943Phe c.5827G>T 42/42 False True no no rs201226192 13 59 113 55 0.0011 0.00049 0.00046 0.00178 2 0 . . . . . . . 17.80 0.831 3.41 50 0.113 0.000 . . .
chr3:125648218 C/T chr3:g.125648218C>T . GT=0/1;AD=62:54;AB=0.47 GT=0/1;AD=36:25;AB=0.41 GT=0/0;AD=53:0;AB=0.00 ALG1L,FAM86JP NM_001195223.1,NM_001015050.2,NR_024251.1,NR_024250.1 missense_variant,missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|- p.Glu201Lys,p.Glu181Lys,.,.|-|-|- c.601G>A,c.541G>A,n.1392C>T,n.1294C>T|-|-|- 7/7,6/6,5/5,5/5|-|-|- False True no no rs778886443 0 1 1 1 0.0000 0.00001 0.00000 0.00003 2 0 . . . . . . . 3.727 0.01 -1.83 56,56,.,. -2.515,. 0.000,. . . .
chr3:133476769 C/T chr3:g.133476769C>T . GT=0/1;AD=38:61;AB=0.62 GT=0/0;AD=61:0;AB=0.00 GT=0/1;AD=14:21;AB=0.60 TF NM_001063.3 missense_variant p.Arg343Trp c.1027C>T 8/17 False True no no rs150854910 13 99 210 30 0.0010 0.00082 0.00085 0.00097 2 0 Atransferrinemia,_209300_(3),_Autosomal_recessive AR . FP "Transferrin_variant" . . 15.52 1.0 3.12 101 1.601 0.000 . . .
chr3:137843487 G/T chr3:g.137843487G>T . GT=0/1;AD=81:61;AB=0.43 GT=0/0;AD=80:2;AB=0.02 GT=0/1;AD=31:26;AB=0.46 A4GNT NM_016161.2 missense_variant p.His214Gln c.642C>A 3/3 False True no no rs146992672 35 230 474 72 0.0027 0.00190 0.00192 0.00232 2 0 . . . . . . . 20.4 0.372 2.91 24 0.280 0.170 . . .
chr3:151154752 G/A chr3:g.151154752G>A . GT=0/1;AD=74:67;AB=0.47 GT=0/1;AD=50:47;AB=0.48 GT=0/0;AD=49:0;AB=0.00 IGSF10 NM_178822.4,NM_001178145.1,NM_001178146.1 missense_variant,missense_variant,missense_variant|-|- p.Arg2533Cys,p.Arg560Cys,p.Arg512Cys|-|- c.7597C>T,c.1678C>T,c.1534C>T|-|- 6/6,2/2,2/2|-|- False True no no rs776551400 0 3 4 1 0.0000 0.00002 0.00002 0.00003 2 0 . . . . . . COSM3588784 9.954 0.999,0.998 4.41 180,180,180 -1.367 0.000 . . .
chr3:170723231 ACAT/A chr3:g.170723232_170723234delCAT . GT=0/1;AD=64:34;AB=0.35 GT=0/0;AD=69:0;AB=0.00 GT=0/1;AD=28:27;AB=0.49 SLC2A2 NM_000340.1,NM_001278658.1,NM_001278659.1 disruptive_inframe_deletion,disruptive_inframe_deletion,disruptive_inframe_deletion|-|- p.Asp268del,p.Asp149del,p.Asp95del|-|- c.803_805delATG,c.446_448delATG,c.284_286delATG|-|- 7/11,6/10,6/10|-|- False True no no rs774721090 1 10 22 1 0.0001 0.00008 0.00009 0.00003 2 0 {Diabetes_mellitus,_noninsulin-dependent},_125853_(3),_Autosomal_dominant|Fanconi-Bickel_syndrome,_227810_(3),_Autosomal_recessive AD|AR . . . Uncertain_significance . . . . .,.,. 1.067 0.000 . . .
chr3:182853648 G/A chr3:g.182853648G>A . GT=0/1;AD=63:72;AB=0.53 GT=0/1;AD=41:42;AB=0.51 GT=0/0;AD=56:0;AB=0.00 LAMP3 NM_014398.3 missense_variant p.Ala325Val c.974C>T 5/6 False True no no rs145020803 4 43 87 13 0.0003 0.00035 0.00035 0.00042 2 1 . . . . . . . 12.20 0.855 2.51 64 0.315 0.000 . . .
chr3:195477787 C/T chr3:g.195477787C>T . GT=0/1;AD=70:115;AB=0.62 GT=0/1;AD=56:44;AB=0.44 GT=0/0;AD=104:0;AB=0.00 MUC4 NM_018406.6,NM_001322468.1,NM_004532.5,NM_138297.4 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Gly5282Arg,p.Gly4543Arg,p.Gly1046Arg,p.Gly995Arg|-|-|- c.15844G>A,c.13627G>A,c.3136G>A,c.2983G>A|-|-|- 23/25,37/39,22/24,21/23|-|-|- False True no yes rs115332872 63 178 301 131 0.0048 0.00148 0.00122 0.00423 2 0 . . . . . . COSM4704001|COSM4704000|COSM4703999 19.02 0.015,0.001,0.001,0.0,0.0,0.003 2.67 125,125,125,125 -16.012 0.000 . . .
chr3:195509475 AAGGG/A chr3:g.195509476_195509479delAGGG . GT=0/1;AD=207:32;AB=0.13 GT=0/0;AD=129:0;AB=0.00 GT=0/0;AD=131:0;AB=0.00 MUC4 NM_018406.6,NM_001322468.1,NM_004532.5,NM_138297.4 frameshift_variant,intron_variant,intron_variant,intron_variant|-|-|- p.Thr2991fs,.,.,.|-|-|- c.8972_8975delCCCT,c.8206+37_8206+40delCCCT,c.83-4153_83-4150delCCCT,c.83-8303_83-8300delCCCT|-|-|- 2/25,7/38,1/23,1/22|-|-|- True True yes yes rs770147194 . . 2 . 0.0000 0.00000 0.00001 0.00000 1 0 . . . . . . . . . . .,.,.,. -16.012 0.000 . . .
chr3:195512534 C/T chr3:g.195512534C>T . GT=0/1;AD=436:132;AB=0.23 GT=0/1;AD=519:84;AB=0.14 GT=0/0;AD=142:1;AB=0.01 MUC4 NM_018406.6,NM_001322468.1,NM_004532.5,NM_138297.4 missense_variant,missense_variant,intron_variant,intron_variant|-|-|- p.Asp1973Asn,p.Asp1954Asn,.,.|-|-|- c.5917G>A,c.5860G>A,c.83-7208G>A,c.83-11358G>A|-|-|- 2/25,4/39,1/23,1/22|-|-|- False True no yes rs536062095 0 31 39 29 0.0000 0.00115 0.00025 0.00107 2 0 . . . . . . . 3.105 0.062 . 23,23,.,. -16.012 0.000 . . .
chr4:1843457 C/T chr4:g.1843457C>T . GT=0/1;AD=73:78;AB=0.52 GT=0/1;AD=45:38;AB=0.46 GT=0/0;AD=64:0;AB=0.00 LETM1 NM_012318.2 missense_variant p.Gly71Ser c.211G>A 3/14 False True no no rs750908839 0 2 7 2 0.0000 0.00002 0.00003 0.00006 2 0 . . . . . . . 5.870 0.043,0.014 -0.582 56 1.575 0.000 . . .
chr4:7194481 CCTG/C chr4:g.7194482_7194484delCTG . GT=0/1;AD=30:5;AB=0.14 GT=0/0;AD=59:1;AB=0.02 GT=0/0;AD=47:1;AB=0.02 SORCS2 NM_020777.2 conservative_inframe_deletion p.Leu43del c.127_129delCTG 1/27 False True yes yes rs765371084;rs544508254 0 0 0 . 0.0000 0.00000 0.00000 0.00000 4 0 . . . . . . . . . . . 0.785 0.011 . . .
chr4:7435441 G/A chr4:g.7435441G>A . GT=0/1;AD=81:74;AB=0.48 GT=0/0;AD=89:0;AB=0.00 GT=0/1;AD=38:39;AB=0.51 PSAPL1,SORCS2 NM_001085382.1,NM_020777.2 missense_variant,intron_variant|- p.Ala389Val,.|- c.1166C>T,c.548+37359G>A|- 1/1,2/26|- False True no yes rs200956294 10 55 130 38 0.0008 0.00046 0.00053 0.00123 3 0 . . . . . . COSM1430947|COSM1430948 2.175 0.005 -8.4 64,. -0.982,0.785 .,0.011 . . .
chr4:13373457 C/T chr4:g.13373457C>T . GT=0/1;AD=47:64;AB=0.58 GT=0/1;AD=37:25;AB=0.40 GT=0/0;AD=68:0;AB=0.00 RAB28 NM_001159601.1,NM_001017979.2,NM_004249.3 missense_variant,intron_variant,intron_variant|-|- p.Arg203Lys,.,.|-|- c.608G>A,c.574-3183G>A,c.574-1868G>A|-|- 7/8,6/6,6/7|-|- False True no no rs759990982 . . 2 . 0.0000 0.00000 0.00001 0.00000 2 0 Cone-rod_dystrophy_18,_615374_(3),_Autosomal_recessive AR . . . . . 7.452,7.452 . 2.83,2.83 26,.,. 0.412 0.025 . . .
chr4:18023309 AGCGGCGGCGGCG/A,AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG chr4:g.18023310_18023321delGCGGCGGCGGCG,chr4:g.18023310_18023321delGCGGCGGCGGCG Multiallelic GT=0/1;AD=79:43:0;AB=0.35:0.00 GT=0/0;AD=99:7:7;AB=0.06:0.06 GT=0/1;AD=33:28:0;AB=0.46:0.00 LCORL NM_001166139.2,NM_153686.8,NR_136669.1 conservative_inframe_insertion,conservative_inframe_insertion,non_coding_transcript_exon_variant|-|-|-|-|- p.Ala13_Ala18dup,p.Ala13_Ala18dup,.|-|-|-|-|- c.53_54insCGCCGCCGCCGCCGCCGC,c.53_54insCGCCGCCGCCGCCGCCGC,n.177_178insCGCCGCCGCCGCCGCCGC|-|-|-|-|- 1/7,1/7,1/5|-|-|-|-|- False True no no rs959628640;rs751821670 .,. .,. 54,2 .,. 0.0000:0.0000 0.00000:0.00000 0.00049:0.00002 0.00000:0.00000 2:0 0:1 . . . . . . . . . . .,.,.,.,.,. 1.666 0.982 . . .
chr4:56819419 A/T chr4:g.56819419A>T . GT=0/1;AD=47:41;AB=0.47 GT=0/0;AD=68:0;AB=0.00 GT=0/1;AD=26:23;AB=0.47 CEP135 NM_025009.4 missense_variant p.Glu94Asp c.282A>T 3/26 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Microcephaly_8,_primary,_autosomal_recessive,_614673_(3),_Autosomal_recessive AR . . . . . 22.8 0.955,0.885 -0.359 45 0.154 0.000 . . .
chr4:70504794 C/G chr4:g.70504794C>G . GT=0/1;AD=80:78;AB=0.49 GT=0/1;AD=37:66;AB=0.64 GT=0/0;AD=67:0;AB=0.00 UGT2A1,UGT2A2 NM_001105677.2,NM_001252274.2,NM_001301233.1,NM_001301239.1,NM_001252275.2,NM_006798.4 missense_variant,missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- p.Glu189Gln,p.Glu390Gln,p.Glu189Gln,.,.,.|-|-|-|-|- c.565G>C,c.1168G>C,c.565G>C,c.715+7854G>C,c.716-3254G>C,c.715+7854G>C|-|-|-|-|- 1/6,3/7,1/5,1/4,2/6,2/6|-|-|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.1 0.989,1.0 5.98 29,29,29,.,.,. -1.815,-1.773 0.000,0.000 . . .
chr4:71347303 C/G chr4:g.71347303C>G . GT=0/1;AD=126:113;AB=0.47 GT=0/1;AD=65:81;AB=0.56 GT=0/0;AD=137:0;AB=0.00 MUC7 NM_001145006.1,NM_001145007.1,NM_152291.2 missense_variant,missense_variant,missense_variant|-|- p.Thr281Arg,p.Thr281Arg,p.Thr281Arg|-|- c.842C>G,c.842C>G,c.842C>G|-|- 4/4,4/4,3/3|-|- False True no no rs199651778 1 15 37 . 0.0001 0.00012 0.00015 0.00000 2 0 {Asthma,_protection_against},_600807_(3),_Autosomal_dominant AD . . . . . 5.557 0.996 1.06 71,71,71 -0.166 0.016 . . .
chr4:72413417 T/C chr4:g.72413417T>C . GT=0/1;AD=67:70;AB=0.51 GT=0/1;AD=47:40;AB=0.46 GT=0/0;AD=70:0;AB=0.00 SLC4A4 NM_001134742.1,NM_001098484.2,NM_003759.3 missense_variant,missense_variant,missense_variant|-|- p.Phe892Leu,p.Phe892Leu,p.Phe848Leu|-|- c.2674T>C,c.2674T>C,c.2542T>C|-|- 20/25,20/26,17/23|-|- False True no no rs138942006 9 96 224 13 0.0007 0.00079 0.00091 0.00042 2 0 Renal_tubular_acidosis,_proximal,_with_ocular_abnormalities,_604278_(3),_Autosomal_recessive AR . . . Uncertain_significance . 22.8 0.175,0.016,0.052 5.81 22,22,22 3.392 0.997 . . .
chr4:83784534 C/A chr4:g.83784534C>A . GT=0/1;AD=40:28;AB=0.41 GT=0/1;AD=31:30;AB=0.49 GT=0/0;AD=39:0;AB=0.00 SEC31A NM_001077207.3,NM_001077206.3,NM_001077208.3,NM_001191049.2,NM_001300744.2,NM_001300745.2,NM_001318119.1,NM_016211.4,NM_001318120.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|-|-|- p.Glu482Asp,p.Glu482Asp,p.Glu482Asp,p.Glu477Asp,p.Glu482Asp,p.Glu482Asp,p.Glu482Asp,p.Glu482Asp,p.Glu482Asp|-|-|-|-|-|-|-|- c.1446G>T,c.1446G>T,c.1446G>T,c.1431G>T,c.1446G>T,c.1446G>T,c.1446G>T,c.1446G>T,c.1446G>T|-|-|-|-|-|-|-|- 12/27,12/26,12/27,11/26,12/24,12/25,12/27,12/25,14/29|-|-|-|-|-|-|-|- False True no no rs201191800 4 67 107 3 0.0003 0.00056 0.00051 0.00010 2 0 . . . . . . . 22.8,22.8 0.998,0.816,0.996,0.997,0.357,0.094,0.998,0.999,0.402,0.999,. -0.106,-0.106 45,45,45,45,45,45,45,45,45 1.381 0.000 . . .
chr4:89022478 T/C chr4:g.89022478T>C . GT=0/1;AD=70:65;AB=0.48 GT=0/0;AD=75:0;AB=0.00 GT=0/1;AD=27:30;AB=0.53 ABCG2 NM_004827.2,NM_001257386.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.1278-7A>G,c.1278-7A>G|- 10/15,10/15|- False True no no rs201991245 15 106 227 24 0.0012 0.00089 0.00092 0.00077 2 1 [Junior_blood_group_system],_614490_(3)|[Uric_acid_concentration,_serum,_QTL1],_138900_(3),_?Autosomal_dominant .|. . . . . . . . . .,. -0.802 0.000 . . .
chr4:91234041 G/A chr4:g.91234041G>A . GT=0/1;AD=69:66;AB=0.49 GT=0/0;AD=98:0;AB=0.00 GT=0/1;AD=39:36;AB=0.48 CCSER1 NM_001145065.1,NM_207491.2 missense_variant,missense_variant|- p.Arg451His,p.Arg451His|- c.1352G>A,c.1352G>A|- 3/11,3/8|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . COSM1058944|COSM1594649|COSM1058946 24.3 0.023,0.669,0.626 3.92 29,29 1.159 0.001 . . .
chr4:109571869 A/G chr4:g.109571869A>G . GT=0/1;AD=92:90;AB=0.49 GT=0/1;AD=52:48;AB=0.48 GT=0/0;AD=86:0;AB=0.00 OSTC NM_001267818.1,NM_001267817.1,NM_021227.3 missense_variant,missense_variant,missense_variant|-|- p.Lys20Glu,p.Lys20Glu,p.Lys20Glu|-|- c.58A>G,c.58A>G,c.58A>G|-|- 1/5,1/3,1/4|-|- False True no no rs1056705332 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.8 1.0 5.07 56,56,56 1.082 0.019 . . .
chr4:128878744 T/A chr4:g.128878744T>A . GT=0/1;AD=54:32;AB=0.37 GT=0/1;AD=34:17;AB=0.33 GT=0/0;AD=47:0;AB=0.00 MFSD8 NM_152778.2 missense_variant p.Glu22Asp c.66A>T 3/13 False True no no rs145529594 105 317 547 282 0.0081 0.00262 0.00223 0.00911 4 0 Ceroid_lipofuscinosis,_neuronal,_7,_610951_(3),_Autosomal_recessive|Macular_dystrophy_with_central_cone_involvement,_616170_(3),_Autosomal_recessive AR|AR . . . Conflicting_interpretations_of_pathogenicity . 12.74 0.001,0.003 0.937 45 0.210 0.000 . . .
chr4:134076164 G/T chr4:g.134076164G>T . GT=0/1;AD=85:54;AB=0.39 GT=0/1;AD=37:33;AB=0.47 GT=0/0;AD=44:0;AB=0.00 PCDH10 NM_032961.2 missense_variant p.Arg928Leu c.2783G>T 3/5 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 18.96 0.997 6.07 102 1.038 0.859 . . .
chr4:146823380 T/TGTG chr4:g.146823380_146823381insGTG . GT=0/1;AD=113:84;AB=0.43 GT=0/1;AD=53:51;AB=0.49 GT=0/0;AD=80:2;AB=0.02 ZNF827 NM_001306215.1,NM_178835.4 conservative_inframe_insertion,conservative_inframe_insertion|- p.Pro343dup,p.Pro343dup|- c.1028_1030dupCAC,c.1028_1030dupCAC|- 2/15,2/15|- False True no no rs780649723 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,. 1.978 1.000 . . .
chr4:174235094 A/AT,T chr4:g.174235094_174235095insT,chr4:g.174235094A>T Multiallelic GT=0/1;AD=21:19:0;AB=0.47:0.00 GT=0/1;AD=13:11:0;AB=0.46:0.00 GT=0/0;AD=18:4:4;AB=0.15:0.15 GALNT7 NM_017423.2 splice_region_variant&intron_variant|- .|- c.1390-5dupT|- 8/11|- False True no no rs73872552 .,NA .,4353 .,10304 .,2486 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 2:7 1:12 . . . . . . . . . . .,. 1.937 0.000 . . .
chr5:11022935 C/T chr5:g.11022935C>T . GT=0/1;AD=59:50;AB=0.46 GT=0/1;AD=47:41;AB=0.47 GT=0/0;AD=52:0;AB=0.00 CTNND2 NM_001332.3,NM_001288715.1,NM_001288716.1,NM_001288717.1,NR_109988.1 missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|-|- p.Arg982Gln,p.Arg891Gln,p.Arg645Gln,p.Arg549Gln,.|-|-|-|- c.2945G>A,c.2672G>A,c.1934G>A,c.1646G>A,n.2472G>A|-|-|-|- 17/22,16/21,14/19,16/21,16/22|-|-|-|- False True no no rs1407621755 . . 1 2 0.0000 0.00000 0.00000 0.00006 2 0 . . . . . . . 22.6 0.997,0.997,0.998 5.64 43,43,43,43,. 2.776 1.000 . . .
chr5:34880331 C/T chr5:g.34880331C>T . GT=0/1;AD=77:53;AB=0.41 GT=0/1;AD=31:29;AB=0.48 GT=0/0;AD=45:0;AB=0.00 TTC23L NM_001317949.1,NM_144725.3 missense_variant,missense_variant|- p.Ala341Val,p.Ala332Val|- c.1022C>T,c.995C>T|- 9/11,9/11|- False True no no rs116562281 5 14 26 7 0.0004 0.00012 0.00011 0.00023 2 0 . . . . . . . 12.27 0.011 2.44 64,64 0.666 0.000 . . .
chr5:41010097 T/A chr5:g.41010097T>A . GT=0/1;AD=81:97;AB=0.55 GT=0/1;AD=60:51;AB=0.46 GT=0/0;AD=78:0;AB=0.00 MROH2B NM_173489.4 missense_variant p.Ile1074Phe c.3220A>T 31/42 False True no no rs79005885 0 13 17 5 0.0000 0.00011 0.00007 0.00016 2 0 . . . . . . . 22.5 0.064 2.5 21 -0.611 0.000 . . .
chr5:41181567 T/C chr5:g.41181567T>C . GT=0/1;AD=66:63;AB=0.49 GT=0/1;AD=44:44;AB=0.50 GT=0/0;AD=73:0;AB=0.00 C6 NM_000065.3,NM_001115131.2 missense_variant,missense_variant|- p.Gln274Arg,p.Gln274Arg|- c.821A>G,c.821A>G|- 7/18,7/18|- False True no no rs199795699 0 12 18 6 0.0000 0.00010 0.00007 0.00019 2 0 C6_deficiency,_612446_(3)|Combined_C6/C7_deficiency_(3) .|. . . . . . 0.001 0.0 -11.2 43,43 -0.723 0.000 . . .
chr5:42810851 C/T chr5:g.42810851C>T . GT=0/1;AD=28:37;AB=0.57 GT=0/1;AD=11:16;AB=0.59 GT=0/0;AD=10:0;AB=0.00 SEPP1 NM_001093726.1,NM_001085486.1,NM_005410.2 missense_variant,intron_variant,intron_variant|-|- p.Ala7Thr,.,.|-|- c.19G>A,c.-42-961G>A,c.-14+1087G>A|-|- 2/6,1/5,1/4|-|- False True no no rs190774342 0 2 3 1 0.0000 0.00020 0.00004 0.00003 2 0 . . . . . . . . . . 58,.,. 0.104 0.000 . . .
chr5:54654395 A/G chr5:g.54654395A>G . GT=0/1;AD=38:50;AB=0.57 GT=0/0;AD=64:0;AB=0.00 GT=0/1;AD=17:24;AB=0.58 SKIV2L2 NM_015360.4 splice_region_variant&intron_variant . c.1534-6A>G 14/26 False True no no rs1413165098 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . . 3.192 0.966 . . .
chr5:66462779 C/T chr5:g.66462779C>T . GT=0/1;AD=86:64;AB=0.43 GT=0/0;AD=80:0;AB=0.00 GT=0/1;AD=15:33;AB=0.69 MAST4 NM_001164664.1,NM_015183.2,NM_001290226.1,NM_001290227.1,NM_001297651.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Thr2591Ile,p.Thr2402Ile,p.Thr2385Ile,p.Thr2330Ile,p.Thr2397Ile|-|-|-|- c.7772C>T,c.7205C>T,c.7154C>T,c.6989C>T,c.7190C>T|-|-|-|- 29/29,28/28,27/27,26/26,26/26|-|-|-|- False True no no rs770880155 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 . . . . . . . 9.627 0.112,0.178 4.19 89,89,89,89,89 2.318 0.000 . . .
chr5:70798429 G/T chr5:g.70798429G>T . GT=0/1;AD=77:76;AB=0.50 GT=0/1;AD=56:52;AB=0.48 GT=0/0;AD=66:0;AB=0.00 BDP1 NM_018429.2 missense_variant p.Leu684Phe c.2052G>T 15/39 False True no no rs371309360 2 2 6 1 0.0002 0.00002 0.00003 0.00003 2 0 ?Deafness,_autosomal_recessive_112,_618257_(3),_Autosomal_recessive AR . . . . . 16.04 0.835,0.998,0.383 0.744 22 0.129 0.000 . . .
chr5:75581095 C/T chr5:g.75581095C>T . GT=0/1;AD=83:73;AB=0.47 GT=0/0;AD=86:0;AB=0.00 GT=0/1;AD=33:28;AB=0.46 SV2C NM_014979.3,NM_001297716.1 missense_variant,missense_variant|- p.Pro341Leu,p.Pro341Leu|- c.1022C>T,c.1022C>T|- 5/13,5/13|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 21.1 0.999 4.75 98,98 0.934 0.000 . . .
chr5:90016024 T/A chr5:g.90016024T>A . GT=0/1;AD=54:63;AB=0.54 GT=0/1;AD=35:33;AB=0.48 GT=0/0;AD=52:0;AB=0.00 ADGRV1 NM_032119.3,NR_003149.1 missense_variant,non_coding_transcript_exon_variant|- p.Ser3203Thr,.|- c.9607T>A,n.9620T>A|- 44/90,44/90|- False True no no rs116480183 58 188 300 144 0.0050 0.00195 0.00144 0.00465 2 0 ?Febrile_seizures,_familial,_4,_604352_(3),_Autosomal_dominant|Usher_syndrome,_type_2C,_605472_(3),_Autosomal_recessive|Usher_syndrome,_type_2C,_GPR98/PDZD7_digenic,_605472_(3),_Autosomal_recessive AD|AR|AR . . . Benign/Likely_benign . 24.1 0.013,0.031 6.08 58,. . . . . .
chr5:114916260 G/A chr5:g.114916260G>A . GT=0/1;AD=31:42;AB=0.57 GT=0/1;AD=24:13;AB=0.35 GT=0/0;AD=39:0;AB=0.00 TICAM2,TMED7-TICAM2 NM_021649.7,NM_001164468.3,NM_001164469.3 stop_gained,stop_gained,3_prime_UTR_variant|-|- p.Gln232*,p.Gln401*,.|-|- c.694C>T,c.1201C>T,c.*752C>T|-|- 2/2,4/4,4/4|-|- True True no no rs746078973 0 14 24 . 0.0000 0.00013 0.00011 0.00000 2 0 . . . . . . . 35 . 3.02 .,.,. 0.878,0.878 0.003,0.003 . . .
chr5:131528725 C/T chr5:g.131528725C>T . GT=0/1;AD=42:61;AB=0.59 GT=0/1;AD=41:35;AB=0.46 GT=0/0;AD=46:0;AB=0.00 P4HA2 NM_001142599.1,NM_001017973.1,NM_004199.2,NM_001017974.1,NM_001142598.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Cys529Tyr,p.Cys527Tyr,p.Cys529Tyr,p.Cys527Tyr,p.Cys527Tyr|-|-|-|- c.1586G>A,c.1580G>A,c.1586G>A,c.1580G>A,c.1580G>A|-|-|-|- 16/16,15/15,15/15,15/15,16/16|-|-|-|- False True no no rs138013404 2 1 2 . 0.0002 0.00001 0.00001 0.00000 2 0 Myopia_25,_autosomal_dominant,_617238_(3),_Autosomal_dominant AD . . . . . 22.6 1.0,1.0 5.95 194,194,194,194,194 0.871 0.000 . . .
chr5:139422531 C/CGCTGCTGCT chr5:g.139422531_139422532insGCTGCTGCT . GT=0/1;AD=80:74;AB=0.48 GT=0/0;AD=128:4;AB=0.03 GT=0/1;AD=44:34;AB=0.44 NRG2 NM_013982.2,NM_001184935.1,NM_004883.2,NM_013981.3,NM_013983.2 conservative_inframe_insertion,conservative_inframe_insertion,conservative_inframe_insertion,conservative_inframe_insertion,conservative_inframe_insertion|-|-|-|- p.Ser39_Ser41dup,p.Ser39_Ser41dup,p.Ser39_Ser41dup,p.Ser39_Ser41dup,p.Ser39_Ser41dup|-|-|-|- c.115_123dupAGCAGCAGC,c.115_123dupAGCAGCAGC,c.115_123dupAGCAGCAGC,c.115_123dupAGCAGCAGC,c.115_123dupAGCAGCAGC|-|-|-|- 1/11,1/8,1/10,1/10,1/11|-|-|-|- False True no no rs757191013 . . . . 0.0000 0.00000 0.00000 0.00000 2 1 . . . . . . . . . . .,.,.,.,. 2.359 0.999 . . .
chr5:140228493 A/G chr5:g.140228493A>G . GT=0/1;AD=99:15;AB=0.13 GT=0/1;AD=82:9;AB=0.10 GT=0/0;AD=93:0;AB=0.00 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NM_031857.1,NM_014005.4,NM_018900.3,NM_018905.2,NM_018906.2,NM_018907.3,NM_018908.2,NM_018909.3,NM_018910.2,NM_018911.2,NM_031411.2,NM_031849.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|- p.Lys138Arg,p.Lys138Arg,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|- c.413A>G,c.413A>G,c.2394+60224A>G,c.2388+51556A>G,c.2394+45317A>G,c.2385+39336A>G,c.2352+24781A>G,c.2394+18423A>G,c.2355+12170A>G,c.2394+5193A>G,c.1602+61016A>G,c.1602+19215A>G|-|-|-|-|-|-|-|-|-|-|- 1/4,1/1,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3|-|-|-|-|-|-|-|-|-|-|- False True no no rs364101 0 29 134 121 0.0000 0.00024 0.00055 0.00412 4 1 . . . . . . COSM6535728|COSM116535 12.43 0.007,0.026 4.13 26,26,.,.,.,.,.,.,.,.,.,. -0.397,-0.855,-0.746,-0.831,-0.463,-1.127,-1.176,-1.543,-1.649 0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000 . . .
chr5:140568811 G/C chr5:g.140568811G>C . GT=0/1;AD=264:30;AB=0.10 GT=0/1;AD=179:21;AB=0.10 GT=0/1;AD=102:13;AB=0.11 PCDHB9 NM_019119.4 missense_variant p.Trp640Ser c.1919G>C 1/1 False True no no rs17844594 0 749 277 73 0.0000 0.00691 0.00120 0.00242 4 1 . . . . . . . . . . 177 . . . . .
chr5:140773791 A/G chr5:g.140773791A>G . GT=0/1;AD=90:68;AB=0.43 GT=0/1;AD=52:46;AB=0.47 GT=0/0;AD=60:0;AB=0.00 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4 NM_032088.1,NM_014004.2,NM_018912.2,NM_018915.3,NM_018916.3,NM_018922.2,NM_018917.3,NM_018923.2,NM_018918.2,NM_018924.4,NM_018919.2,NM_018920.3,NM_003736.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|-|- p.Ile471Val,p.Ile471Val,.,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|-|- c.1411A>G,c.1411A>G,c.2421+61119A>G,c.2424+52829A>G,c.2424+47767A>G,c.2409+41555A>G,c.2514+36603A>G,c.2421+31668A>G,c.2421+27473A>G,c.2415+21415A>G,c.2424+17717A>G,c.2424+8901A>G,c.2397+3943A>G|-|-|-|-|-|-|-|-|-|-|-|- 1/4,1/1,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3|-|-|-|-|-|-|-|-|-|-|-|- False True no yes rs375614946 1 25 70 10 0.0001 0.00021 0.00028 0.00032 2 1 . . . . . . . 16.38 0.172,0.143 5.06 29,29,.,.,.,.,.,.,.,.,.,.,. 0.054,-0.211,-0.035,0.427,-0.851,-0.725,-0.290,0.056,0.008,0.350,-0.218,0.276 0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000 . . .
chr5:140798879 G/C chr5:g.140798879G>C . GT=0/1;AD=109:86;AB=0.44 GT=0/1;AD=56:49;AB=0.47 GT=0/0;AD=93:1;AB=0.01 PCDHGA1,PCDHGA10,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7 NM_018927.3,NM_032101.2,NM_018912.2,NM_018915.3,NM_018916.3,NM_018922.2,NM_018917.3,NM_018923.2,NM_018918.2,NM_018924.4,NM_018919.2,NM_018920.3,NM_003736.2,NM_032088.1,NM_018925.2,NM_018921.2,NM_018926.2,NM_018913.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- p.Gly485Arg,p.Gly485Arg,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- c.1453G>C,c.1453G>C,c.2422-75495G>C,c.2425-75495G>C,c.2424+72855G>C,c.2409+66643G>C,c.2514+61691G>C,c.2421+56756G>C,c.2421+52561G>C,c.2415+46503G>C,c.2424+42805G>C,c.2424+33989G>C,c.2397+29031G>C,c.2424+24075G>C,c.2397+18788G>C,c.2424+13936G>C,c.2418+8692G>C,c.2436+3701G>C|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- 1/4,1/1,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3,1/3|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- False True no yes rs35892780 13 132 336 44 0.0010 0.00109 0.00136 0.00142 2 1 . . . . . . . 11.66 1.0,1.0 5.19 125,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,. 0.054,1.167,-0.211,-0.035,0.427,-0.851,-0.725,-0.290,0.056,0.494,0.008,0.350,-0.218,0.276,.,1.312,1.031 0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,0.000,.,0.000,0.000 . . .
chr5:141336581 A/G chr5:g.141336581A>G . GT=0/1;AD=72:75;AB=0.51 GT=0/1;AD=54:56;AB=0.51 GT=0/0;AD=66:0;AB=0.00 PCDH12 NM_016580.3 missense_variant p.Val279Ala c.836T>C 1/4 False True no no rs142624712 28 77 167 32 0.0022 0.00063 0.00068 0.00103 2 1 Microcephaly,_seizures,_spasticity,_and_brain_calcification,_251280_(3),_Autosomal_recessive AR . . . . . 22.3 0.998 5.32 64 0.718 0.000 . . .
chr5:149563122 C/T chr5:g.149563122C>T . GT=0/1;AD=62:55;AB=0.47 GT=0/1;AD=37:43;AB=0.54 GT=0/0;AD=70:0;AB=0.00 CDX1 NM_001804.2 missense_variant p.Pro226Leu c.677C>T 3/3 False True no no rs371789864 1 3 5 2 0.0001 0.00003 0.00002 0.00006 2 0 . . . . . . . 19.40 0.509 2.82 98 -0.005 0.131 . . .
chr5:150036304 A/ACCGCCC,C,ACCGCCCCCGCCC chr5:g.150036304_150036305insCCGCCC,chr5:g.150036304A>C,chr5:g.150036304_150036305insCCGCCCCCGCCC Multiallelic GT=0/1;AD=23:9:0:0;AB=0.28:0.00:0.00 GT=1/2;AD=4:7:22:0;AB=0.21:0.67:0.00 GT=0/0;AD=57:3:3:3;AB=0.04:0.04:0.04 SYNPO NM_007286.5 disruptive_inframe_insertion|disruptive_inframe_insertion|- p.Pro799_Pro800dup|p.Pro797_Pro800dup|- c.2396_2401dupCCCCGC|c.2390_2401dupCCCCGCCCCCGC|- 3/3|3/3|- False True no no rs554668244 .,NA,. .,24,. .,148,. .,991,. 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 3:5:2 0:0:0 . . . . . . . . . . .,.,. 0.910 0.983 . . .
chr5:154092643 G/T chr5:g.154092643G>T . GT=0/1;AD=68:76;AB=0.53 GT=0/1;AD=51:52;AB=0.51 GT=0/0;AD=58:0;AB=0.00 LARP1 NM_015315.4 missense_variant p.Arg53Met c.158G>T 1/19 False True no no rs116274616 18 57 89 44 0.0014 0.00047 0.00036 0.00142 2 0 . . . . . . . 18.15 0.047 1.95 91 3.098 1.000 . . .
chr5:156920180 G/A chr5:g.156920180G>A . GT=0/1;AD=40:47;AB=0.54 GT=0/1;AD=35:19;AB=0.35 GT=0/0;AD=45:0;AB=0.00 ADAM19 NM_033274.4 missense_variant p.Ala570Val c.1709C>T 16/23 False True no no rs553414033 0 1 2 1 0.0000 0.00001 0.00001 0.00003 2 0 . . . . . . COSM1154423|COSM1065043 25.2,25.2 0.992,0.994,0.994,. 4.21,4.21 64 1.998 0.000 . . .
chr5:157182175 G/A chr5:g.157182175G>A . GT=0/1;AD=73:76;AB=0.51 GT=0/1;AD=47:48;AB=0.51 GT=0/0;AD=87:0;AB=0.00 LSM11 NM_173491.3 missense_variant p.Arg329Gln c.986G>A 4/4 False True no no rs749494636 0 1 3 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . . 23.8 0.059 4.69 43 1.018 0.613 . . .
chr5:169021411 C/T chr5:g.169021411C>T . GT=0/1;AD=57:63;AB=0.53 GT=0/0;AD=73:0;AB=0.00 GT=0/1;AD=32:19;AB=0.37 SPDL1 NM_001329639.1,NM_001329642.1,NM_001329643.1,NM_017785.4,NM_001329640.1,NM_001329641.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|- p.Ala232Val,p.Ala161Val,p.Ala161Val,p.Ala232Val,p.Ala232Val,p.Ala232Val|-|-|-|-|- c.695C>T,c.482C>T,c.482C>T,c.695C>T,c.695C>T,c.695C>T|-|-|-|-|- 6/11,7/12,7/13,6/12,6/11,6/12|-|-|-|-|- False True no no rs757657254 0 4 14 1 0.0000 0.00003 0.00006 0.00003 2 0 . . . . . . . 14.38 0.018,0.007 0.526 64,64,64,64,64,64 -0.235 0.000 . . .
chr5:171509440 T/A chr5:g.171509440T>A . GT=0/1;AD=62:36;AB=0.37 GT=0/1;AD=37:28;AB=0.43 GT=0/0;AD=43:0;AB=0.00 STK10 NM_005990.3 missense_variant p.Met627Leu c.1879A>T 12/19 False True no no rs150715921 2 6 11 . 0.0002 0.00005 0.00005 0.00000 2 0 . . . . . . . 22.1 0.004 5.11 15 1.641 0.000 . . .
chr5:177036616 G/C chr5:g.177036616G>C . GT=0/1;AD=101:78;AB=0.44 GT=0/1;AD=41:51;AB=0.55 GT=0/0;AD=73:0;AB=0.00 B4GALT7 NM_007255.2 missense_variant p.Val302Leu c.904G>C 6/6 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Ehlers-Danlos_syndrome,_spondylodysplastic_type,_1,_130070_(3),_Autosomal_recessive AR . . . . . 17.06 0.002 4.32 32 -0.403 0.000 . . .
chr5:178421927 C/T chr5:g.178421927C>T . GT=0/1;AD=5:10;AB=0.67 GT=0/1;AD=18:24;AB=0.57 GT=0/0;AD=39:0;AB=0.00 GRM6 NM_000843.3 missense_variant p.Ala7Thr c.19G>A 1/10 False True no no rs62642053 0 0 37 156 0.0000 0.00000 0.00987 0.00522 2 1 Night_blindness,_congenital_stationary_(complete),_1B,_autosomal_recessive,_257270_(3),_Autosomal_recessive AR . . . Benign COSM4159792 7.532 0.001 -1.59 58 -0.467 0.000 . . .
chr6:335135 C/T chr6:g.335135C>T . GT=0/1;AD=101:38;AB=0.27 GT=0/1;AD=73:11;AB=0.13 GT=0/0;AD=69:0;AB=0.00 DUSP22 NM_001286555.1,NM_020185.4,NR_104473.1,NR_104475.1,NR_104474.1 missense_variant,missense_variant,intron_variant,intron_variant,non_coding_transcript_exon_variant|-|-|-|- p.Pro54Ser,p.Pro54Ser,.,.,.|-|-|-|- c.160C>T,c.160C>T,n.622-10719C>T,n.505-10719C>T,n.560C>T|-|-|-|- 4/7,4/8,3/5,1/3,3/6|-|-|-|- False True no no rs1452312293 . . . 1 0.0000 0.00000 0.00000 0.00003 2 0 . . . . . . . 22.1 0.003,0.273,0.001 5.79 74,74,.,.,. 0.786 0.042 . . .
chr6:3154732 C/T chr6:g.3154732C>T . GT=0/1;AD=57:7;AB=0.11 GT=0/1;AD=25:4;AB=0.14 GT=0/0;AD=21:0;AB=0.00 TUBB2A NM_001069.2,NM_001310315.1 missense_variant,missense_variant|- p.Gly235Arg,p.Gly150Arg|- c.703G>A,c.448G>A|- 4/4,4/4|- False True no no rs760895731 0 48 13 9 0.0000 0.00044 0.00005 0.00035 2 1 Cortical_dysplasia,_complex,_with_other_brain_malformations_5,_615763_(3),_Autosomal_dominant AD . . . . . 22.4 1.0,1.0,1.0 4.97 125,125 5.365 0.937 . . .
chr6:24146086 C/T chr6:g.24146086C>T . GT=0/1;AD=56:89;AB=0.61 GT=0/0;AD=113:0;AB=0.00 GT=0/1;AD=35:38;AB=0.52 NRSN1 NM_080723.4 missense_variant p.Pro167Leu c.500C>T 4/4 False True no no rs141247589 6 58 121 10 0.0005 0.00048 0.00049 0.00032 2 0 . . . . . . . 12.91 0.925 5.5 98 0.588 0.000 . . .
chr6:30638894 C/T chr6:g.30638894C>T . GT=0/1;AD=142:137;AB=0.49 GT=0/1;AD=60:68;AB=0.53 GT=0/0;AD=101:1;AB=0.01 DHX16 NM_003587.4,NM_001164239.1 missense_variant,missense_variant|- p.Arg122His,p.Arg62His|- c.365G>A,c.185G>A|- 2/20,2/20|- False True no no rs140919186 16 81 119 51 0.0019 0.00070 0.00049 0.00165 2 0 . . . . . . . 13.63 0.001,0.0 2.91 29,29 3.149 0.000 . . .
chr6:30954999 G/C chr6:g.30954999G>C . GT=0/1;AD=132:33;AB=0.20 GT=0/0;AD=110:1;AB=0.01 GT=0/0;AD=102:3;AB=0.03 MUC21 NM_001010909.3,NM_001322371.1,NM_001322370.1,NR_130720.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|- p.Glu349Asp,p.Glu347Asp,p.Glu346Asp,.|-|-|- c.1047G>C,c.1041G>C,c.1038G>C,n.1440G>C|-|-|- 2/3,3/4,3/4,2/3|-|-|- False True yes no rs141934200 0 54 54 16 0.0000 0.00048 0.00026 0.00062 1 0 . . . . . . COSM1186997 0.001 0.002 -8.37 45,45,45,. 1.280 0.075 . . .
chr6:31922345 CTCTCGG/C,CTCTCGGTCTCGG chr6:g.31922346_31922351delTCTCGG,chr6:g.31922346_31922351delTCTCGG Multiallelic GT=0/1;AD=84:98:0;AB=0.54:0.00 GT=0/1;AD=45:52:0;AB=0.54:0.00 GT=0/0;AD=84:0:0;AB=0.00:0.00 NELFE NM_002904.5 conservative_inframe_insertion|- p.Asp241_Arg242insArgAsp|- c.717_722dupCCGAGA|- 7/11|- False True no no rs139983860 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 2:0 1:1 . . . . . . . . . . .,. 1.538 0.003 . . .
chr6:38919298 T/A chr6:g.38919298T>A . GT=0/1;AD=55:49;AB=0.47 GT=0/0;AD=65:0;AB=0.00 GT=0/1;AD=19:21;AB=0.53 DNAH8,LOC100131047 NM_001206927.1,NR_038401.1 splice_donor_variant&intron_variant,intron_variant|- .,.|- c.12451+2T>A,n.60+1526A>T|- 82/92,1/4|- True True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 19.76 . 5.69 .,. 1.508,. 0.000,. . . .
chr6:39053719 G/A chr6:g.39053719G>A . GT=0/1;AD=58:73;AB=0.56 GT=0/1;AD=32:43;AB=0.57 GT=0/0;AD=68:0;AB=0.00 GLP1R NM_002062.4,NR_136562.1,NR_136563.1 missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|- p.Arg421Gln,.,.|-|- c.1262G>A,n.1322G>A,n.1322G>A|-|- 13/13,13/14,13/14|-|- False True no no rs10305510 87 246 369 170 0.0067 0.00203 0.00151 0.00550 2 0 . . . FP "Reduced_agonist_responsiveness" . . 22.4 0.001 2.52 43,.,. 1.744 0.280 . . .
chr6:55933848 T/A chr6:g.55933848T>A . GT=0/1;AD=67:59;AB=0.47 GT=0/1;AD=42:38;AB=0.47 GT=0/0;AD=56:0;AB=0.00 COL21A1 NM_001318754.1,NM_001318751.1,NM_001318753.1,NM_030820.3,NM_001318752.1,NR_134849.1,NR_134850.1,NR_134851.1 stop_gained,missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|-|-|- p.Lys54*,p.Lys696Ile,p.Lys94Ile,p.Lys696Ile,p.Lys693Ile,.,.,.|-|-|-|-|-|-|- c.160A>T,c.2087A>T,c.281A>T,c.2087A>T,c.2078A>T,n.2311A>T,n.2336A>T,n.2344A>T|-|-|-|-|-|-|- 6/14,23/31,6/14,22/30,21/29,22/30,23/31,23/30|-|-|-|-|-|-|- True True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.3 0.4,0.009,0.014 4.11 .,102,102,102,102,.,.,. 0.920 0.000 . . .
chr6:56989528 A/T chr6:g.56989528A>T . GT=0/1;AD=37:34;AB=0.48 GT=0/1;AD=22:20;AB=0.48 GT=0/0;AD=24:5;AB=0.17 LOC101927211,ZNF451 NM_001031623.2,NM_015555.2,NR_110742.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,intron_variant|-|- .,.,.|-|- c.187-4A>T,c.187-4A>T,n.235-9167T>A|-|- 3/14,3/13,2/3|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . COSM1621844|COSM1621845 . . . .,.,. .,1.182 .,0.000 . . .
chr6:83905434 T/C chr6:g.83905434T>C . GT=0/1;AD=89:118;AB=0.57 GT=0/0;AD=116:0;AB=0.00 GT=0/1;AD=45:39;AB=0.46 RWDD2A NM_033411.4,NM_001322335.1,NM_001322336.1,NM_001322337.1,NM_001322339.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Ser108Pro,p.Ser33Pro,p.Ser42Pro,p.Ser42Pro,p.Ser42Pro|-|-|-|- c.322T>C,c.97T>C,c.124T>C,c.124T>C,c.124T>C|-|-|-|- 3/3,3/3,4/4,4/4,4/4|-|-|-|- False True no no rs1389130896 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 15.62 0.051 1.22 74,74,74,74,74 1.135 0.000 . . .
chr6:109906332 T/G chr6:g.109906332T>G . GT=0/1;AD=32:23;AB=0.42 GT=0/1;AD=14:17;AB=0.55 GT=0/0;AD=20:0;AB=0.00 AK9 NM_001145128.2 missense_variant p.Glu703Ala c.2108A>C 19/41 False True no no rs73519211 0 37 127 255 0.0000 0.00834 0.00164 0.00840 2 0 . . . . . . COSM1439681|COSM1439682 7.633 0.0 -1.8 107 2.310 0.000 . . .
chr6:111587370 G/T chr6:g.111587370G>T . GT=0/1;AD=98:13;AB=0.12 GT=0/0;AD=61:4;AB=0.06 GT=0/0;AD=44:3;AB=0.06 MFSD4B NM_153369.2 missense_variant p.Cys202Phe c.605G>T 4/4 False True no no rs79277881 . . 36 5 0.0000 0.00000 0.00015 0.00017 3 0 . . . . . . . 7.267 0.0 0.322 205 . . . . .
chr6:116442128 G/A chr6:g.116442128G>A . GT=0/1;AD=43:42;AB=0.49 GT=0/1;AD=36:26;AB=0.42 GT=0/0;AD=37:0;AB=0.00 COL10A1,NT5DC1 NM_000493.3,NM_152729.2 missense_variant,intron_variant|- p.Ser384Leu,.|- c.1151C>T,c.529+3020G>A|- 3/3,6/11|- False True no no rs199843000 0 7 17 5 0.0000 0.00006 0.00007 0.00016 2 0 Metaphyseal_chondrodysplasia,_Schmid_type,_156500_(3),_Autosomal_dominant,. AD,. . . . . . 15.15 0.0 1.51 145,. -1.022,0.528 0.000,0.000 . . .
chr6:116912033 CTT/C,CT,CTTT chr6:g.116912034_116912035delTT,chr6:g.116912034_116912035delTT,chr6:g.116912034_116912035delTT Multiallelic GT=0/1;AD=16:3:3:0;AB=0.14:0.14:0.00 GT=0/3;AD=6:2:0:5;AB=0.15:0.00:0.39 GT=0/0;AD=12:4:4:4;AB=0.17:0.17:0.17 RWDD1 NM_015952.3,NM_001007464.2,NM_016104.3 splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|-|-|-|-|- .,.,.|-|.,.,.|-|-|-|-|-|- c.548-3dupT,c.260-3dupT,c.260-3dupT|-|c.548-3dupT,c.260-3dupT,c.260-3dupT|-|-|-|-|-|- 5/6,6/7,7/8|-|5/6,6/7,7/8|-|-|-|-|-|- True True no no rs748067920 .,.,. .,.,. .,.,. .,.,. 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 2:32:9 3:47:1 . . . . . . . . . . .,.,.,.,.,.,.,.,. 1.289 0.907 . . .
chr6:129419358 C/G chr6:g.129419358C>G . GT=0/1;AD=60:42;AB=0.41 GT=0/0;AD=83:0;AB=0.00 GT=0/1;AD=40:27;AB=0.40 LAMA2 NM_000426.3,NM_001079823.1 missense_variant,missense_variant|- p.Ser146Cys,p.Ser146Cys|- c.437C>G,c.437C>G|- 4/65,4/64|- False True no no rs143680577 3 22 48 2 0.0002 0.00018 0.00019 0.00006 2 0 Muscular_dystrophy,_congenital,_merosin_deficient_or_partially_deficient,_607855_(3),_Autosomal_recessive|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23,_618138_(3),_Autosomal_recessive AR|AR . . . Uncertain_significance . 27.4 1.0,1.0 5.03 112,112 0.304 0.000 . . .
chr6:149700354 C/T chr6:g.149700354C>T . GT=0/1;AD=93:93;AB=0.50 GT=0/0;AD=102:0;AB=0.00 GT=0/1;AD=43:34;AB=0.44 TAB2 NM_001292034.2,NM_001292035.2,NM_015093.5 missense_variant,missense_variant,missense_variant|-|- p.His435Tyr,p.His403Tyr,p.His435Tyr|-|- c.1303C>T,c.1207C>T,c.1303C>T|-|- 3/7,3/7,5/9|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Congenital_heart_defects,_nonsyndromic,_2,_614980_(3),_Autosomal_dominant AD . . . . . 23.6 0.993,0.993 5.51 83,83,83 1.841 1.000 . . .
chr6:150715308 G/A chr6:g.150715308G>A . GT=0/1;AD=77:59;AB=0.43 GT=0/1;AD=61:39;AB=0.39 GT=0/0;AD=62:1;AB=0.02 IYD NM_001164694.1,NM_001164695.1,NM_001318495.1,NM_203395.2,NR_134655.1 missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|-|- p.Ala202Thr,p.Ala202Thr,p.Ala120Thr,p.Ala202Thr,.|-|-|-|- c.604G>A,c.604G>A,c.358G>A,c.604G>A,n.744G>A|-|-|-|- 4/6,4/6,4/5,4/5,4/6|-|-|-|- False True no no rs146905706 21 300 548 51 0.0016 0.00247 0.00223 0.00165 2 0 Thyroid_dyshormonogenesis_4,_274800_(3),_Autosomal_recessive AR . . . Uncertain_significance . 0.111 0.007,0.011,0.0,0.001 -2.24 58,58,58,58,. 0.302 0.004 . . .
chr6:152552700 ACCCT/A chr6:g.152552701_152552704delCCCT . GT=0/1;AD=99:11;AB=0.10 GT=0/0;AD=63:1;AB=0.02 GT=0/0;AD=48:0;AB=0.00 SYNE1 NM_182961.3,NM_033071.3 frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant,frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant|- p.Gly6955fs,p.Gly6884fs|- c.20863-2_20864delAGGG,c.20650-2_20651delAGGG|- 114/146,113/146|- True True yes yes rs1244555708 . . 0 1 0.0000 0.00000 0.00000 0.00003 2 0 Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant,_612998_(3),_Autosomal_dominant|Spinocerebellar_ataxia,_autosomal_recessive_8,_610743_(3),_Autosomal_recessive AD|AR . . . . . . . . .,. 0.370 0.000 . . .
chr6:152552704 T/TAAAA chr6:g.152552704_152552705insAAAA . GT=0/1;AD=65:11;AB=0.14 GT=0/0;AD=59:2;AB=0.03 GT=0/0;AD=42:5;AB=0.11 SYNE1 NM_182961.3,NM_033071.3 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.20863-6_20863-3dupTTTT,c.20650-6_20650-3dupTTTT|- 113/145,112/145|- False True no yes rs755011653 . . . 0 0.0000 0.00000 0.00000 0.00000 2 0 Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant,_612998_(3),_Autosomal_dominant|Spinocerebellar_ataxia,_autosomal_recessive_8,_610743_(3),_Autosomal_recessive AD|AR . . . . . . . . .,. 0.370 0.000 . . .
chr6:159456930 G/T chr6:g.159456930G>T . GT=0/1;AD=79:60;AB=0.43 GT=0/1;AD=40:34;AB=0.46 GT=0/0;AD=67:0;AB=0.00 TAGAP NM_054114.4,NM_001278733.1,NM_152133.2 missense_variant,missense_variant,missense_variant|-|- p.Leu709Ile,p.Leu646Ile,p.Leu531Ile|-|- c.2125C>A,c.1936C>A,c.1591C>A|-|- 10/10,6/6,9/9|-|- False True no yes . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 4.827 0.851 1.83 5,5,5 1.489 0.856 . . .
chr6:159457869 T/A chr6:g.159457869T>A . GT=0/1;AD=78:85;AB=0.52 GT=0/0;AD=96:0;AB=0.00 GT=0/1;AD=17:33;AB=0.66 TAGAP NM_054114.4,NM_001278733.1,NM_152133.2 missense_variant,missense_variant,missense_variant|-|- p.Thr396Ser,p.Thr333Ser,p.Thr218Ser|-|- c.1186A>T,c.997A>T,c.652A>T|-|- 10/10,6/6,9/9|-|- False True no yes rs75182303 55 441 875 82 0.0042 0.00364 0.00355 0.00265 2 3 . . . . . . . 5.150 0.001 2.21 58,58,58 1.489 0.856 . . .
chr7:1487384 C/A chr7:g.1487384C>A . GT=0/1;AD=57:57;AB=0.50 GT=0/1;AD=34:29;AB=0.46 GT=0/0;AD=54:0;AB=0.00 MICALL2 NM_182924.3 missense_variant p.Val118Leu c.352G>T 4/17 False True no yes rs143607097 58 101 340 190 0.0045 0.00460 0.00218 0.00615 4 1 . . . . . . . 20.9 0.516 1.03 32 -1.808 0.000 . . .
chr7:1487398 C/T chr7:g.1487398C>T . GT=0/1;AD=56:52;AB=0.48 GT=0/0;AD=56:0;AB=0.00 GT=0/1;AD=20:27;AB=0.57 MICALL2 NM_182924.3 missense_variant p.Gly113Glu c.338G>A 4/17 False True no yes rs759327569 0 1 1 . 0.0000 0.00005 0.00001 0.00000 2 0 . . . . . . . 23.5 0.693 3.18 98 -1.808 0.000 . . .
chr7:5428094 G/A chr7:g.5428094G>A . GT=0/1;AD=72:70;AB=0.49 GT=0/1;AD=59:47;AB=0.44 GT=0/0;AD=70:0;AB=0.00 TNRC18 NM_001080495.2 missense_variant p.Pro454Leu c.1361C>T 5/30 False True no no rs767176663 0 2 31 14 0.0000 0.00034 0.00067 0.00047 2 0 . . . . . . COSM4656673|COSM4656672 13.24 0.981 3.56 98 0.105 0.997 . . .
chr7:17913195 G/A chr7:g.17913195G>A . GT=0/1;AD=44:51;AB=0.54 GT=0/0;AD=85:0;AB=0.00 GT=0/1;AD=26:32;AB=0.55 SNX13 NM_015132.4 missense_variant p.Pro237Ser c.709C>T 8/26 False True no no rs201830759 41 283 582 145 0.0035 0.00615 0.00276 0.00469 2 0 . . . . . . COSM6326521 31 1.0,0.999,0.998,1.0 5.93 74 2.372 0.310 . . .
chr7:21779241 G/A chr7:g.21779241G>A . GT=0/1;AD=61:43;AB=0.41 GT=0/1;AD=25:25;AB=0.50 GT=0/0;AD=50:0;AB=0.00 DNAH11 NM_001277115.1 missense_variant p.Ala2622Thr c.7864G>A 48/82 False True no no rs200462132 0 7 12 2 0.0000 0.00006 0.00005 0.00006 2 0 Ciliary_dyskinesia,_primary,_7,_with_or_without_situs_inversus,_611884_(3),_Autosomal_recessive AR . . . . COSM3880171|COSM183055 19.48 0.808 1.78 58 -5.351 0.000 . . .
chr7:53103729 G/C chr7:g.53103729G>C . GT=0/1;AD=125:136;AB=0.52 GT=0/1;AD=67:67;AB=0.50 GT=0/0;AD=95:0;AB=0.00 POM121L12 NM_182595.3 missense_variant p.Gly122Ala c.365G>C 1/1 False True no no rs79921359 109 346 601 277 0.0089 0.00298 0.00248 0.00898 2 1 . . . . . . . 0.037 0.0 -1.03 60 -1.492 . . . .
chr7:56020871 G/A chr7:g.56020871G>A . GT=0/1;AD=37:50;AB=0.57 GT=0/0;AD=46:0;AB=0.00 GT=0/1;AD=19:15;AB=0.44 MRPS17 NM_015969.2 splice_acceptor_variant&intron_variant . c.-17-1G>A 1/2 True True no no rs753228614 . . 3 2 0.0000 0.00000 0.00001 0.00006 2 0 . . . . . . . 16.00 . 4.3 . 0.413 0.000 . . .
chr7:70255576 G/GCCA chr7:g.70255576_70255577insCCA . GT=0/1;AD=75:68;AB=0.48 GT=0/1;AD=41:34;AB=0.45 GT=0/0;AD=92:5;AB=0.05 AUTS2 NM_015570.3,NM_001127231.2 disruptive_inframe_insertion,disruptive_inframe_insertion|- p.His1133dup,p.His1109dup|- c.3398_3400dupACC,c.3326_3328dupACC|- 19/19,18/18|- False True no no rs538005366 . . . . 0.0000 0.00000 0.00000 0.00000 2 1 Mental_retardation,_autosomal_dominant_26,_615834_(3),_Autosomal_dominant AD . . . . COSM5976461 . . . .,. 2.303 0.999 . . .
chr7:75695693 A/C chr7:g.75695693A>C . GT=0/1;AD=44:33;AB=0.43 GT=0/1;AD=17:23;AB=0.57 GT=0/0;AD=40:1;AB=0.02 MDH2 NM_005918.3,NM_001282403.1,NM_001282404.1 missense_variant,missense_variant,missense_variant|-|- p.Lys328Gln,p.Lys286Gln,p.Lys221Gln|-|- c.982A>C,c.856A>C,c.661A>C|-|- 9/9,8/8,8/8|-|- False True no no rs144919730 31 264 681 27 0.0024 0.00218 0.00277 0.00088 2 0 Epileptic_encephalopathy,_early_infantile,_51,_617339_(3),_Autosomal_recessive AR . . . . COSM3698545 22.5 0.08,0.005 5.41 53,53,53 0.068 0.007 . . .
chr7:75915022 C/T chr7:g.75915022C>T . GT=0/1;AD=111:89;AB=0.45 GT=0/1;AD=56:40;AB=0.42 GT=0/0;AD=71:0;AB=0.00 SRRM3 NM_001110199.2,NM_001291831.1 missense_variant,synonymous_variant|- p.Ala608Val,p.Ser634Ser|- c.1823C>T,c.1902C>T|- 15/15,16/16|- False True no no rs200880900 22 129 589 75 0.0028 0.00664 0.00400 0.00242 2 0 . . . . . . . 15.62 . 3.33 64,. 1.383 0.182 . . .
chr7:76140336 G/C chr7:g.76140336G>C . GT=0/1;AD=115:56;AB=0.33 GT=0/1;AD=25:39;AB=0.61 GT=0/0;AD=59:0;AB=0.00 UPK3B NM_030570.3,NM_182683.2,NM_182684.2 missense_variant,missense_variant,missense_variant|-|- p.Asp123His,p.Asp68His,p.Asp68His|-|- c.367G>C,c.202G>C,c.202G>C|-|- 1/5,2/6,2/7|-|- False True no no rs148862203 27 228 645 37 0.0021 0.00470 0.00290 0.00120 2 0 . . . . . . . 23.3 1.0,0.999,0.999 4.03 81,81,81 0.466 0.000 . . .
chr7:86567483 C/T chr7:g.86567483C>T . GT=0/1;AD=57:39;AB=0.41 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=20:18;AB=0.47 KIAA1324L NM_001142749.2,NM_001291990.1,NM_001291991.1,NM_152748.3 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Asp350Asn,p.Asp236Asn,p.Asp110Asn,p.Asp183Asn|-|-|- c.1048G>A,c.706G>A,c.328G>A,c.547G>A|-|-|- 8/22,8/22,7/21,7/21|-|-|- False True no no rs138424687 2 63 220 . 0.0002 0.00295 0.00143 0.00000 2 0 . . . . . . . 33,33 0.997,1.0,1.0,. 5.49,5.49 23,23,23,23 2.276 0.000 . . .
chr7:97736518 GGCT/G,GGCTGCT chr7:g.97736519_97736521delGCT,chr7:g.97736519_97736521delGCT Multiallelic GT=0/2;AD=57:5:55;AB=0.04:0.47 GT=0/2;AD=34:0:39;AB=0.00:0.53 GT=0/0;AD=56:3:3;AB=0.05:0.05 LMTK2 NM_014916.3 -|conservative_inframe_deletion -|p.Leu16del -|c.46_48delCTG -|1/14 False True no no rs776837018 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 1:2 1:0 . . . . . . COSM1724097|COSM1724098,. . . . .,. 1.429 1.000 . . .
chr7:99161496 CCGCCTTCCCA/C chr7:g.99161497_99161506delCGCCTTCCCA . GT=0/1;AD=83:53;AB=0.39 GT=0/0;AD=78:0;AB=0.00 GT=0/1;AD=34:35;AB=0.51 ZNF655 NM_001085366.1,NM_024061.3,NM_001009958.1,NM_001085367.1,NM_001083956.1,NM_138494.2,NM_001009960.1,NM_001085368.1 frameshift_variant,frameshift_variant,frameshift_variant,frameshift_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|- p.Arg50fs,p.Arg121fs,p.Arg50fs,p.Arg121fs,.,.,.,.|-|-|-|-|-|-|- c.149_158delGCCTTCCCAC,c.362_371delGCCTTCCCAC,c.149_158delGCCTTCCCAC,c.362_371delGCCTTCCCAC,c.136+3180_136+3189delGCCTTCCCAC,c.136+3180_136+3189delGCCTTCCCAC,c.136+3180_136+3189delGCCTTCCCAC,c.136+3180_136+3189delGCCTTCCCAC|-|-|-|-|-|-|- 3/3,5/5,3/3,5/5,2/3,2/2,2/2,2/3|-|-|-|-|-|-|- True True no no rs558237705 49 284 598 60 0.0039 0.00236 0.00246 0.00195 2 0 . . . . . . . . . . .,.,.,.,.,.,.,. 0.741 0.392 . . .
chr7:107406325 TG/T chr7:g.107406326delG . GT=0/1;AD=49:50;AB=0.51 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=27:14;AB=0.34 SLC26A3 NM_000111.2 splice_region_variant&intron_variant . c.2272-3delC 20/20 False True no no rs773346631 0 1 3 . 0.0000 0.00001 0.00001 0.00000 2 0 Diarrhea_1,_secretory_chloride,_congenital,_214700_(3),_Autosomal_recessive AR . . . Uncertain_significance . . . . . 0.505 0.000 . . .
chr7:129841790 C/T chr7:g.129841790C>T . GT=0/1;AD=58:66;AB=0.53 GT=0/0;AD=78:0;AB=0.00 GT=0/1;AD=24:30;AB=0.56 TMEM209 NM_032842.3,NM_001301163.1 missense_variant,missense_variant|- p.Cys158Tyr,p.Cys158Tyr|- c.473G>A,c.473G>A|- 5/15,5/14|- False True no no rs1404743150 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.1 0.997,0.999,0.997 5.04 194,194 0.790 0.000 . . .
chr7:142460284 G/C chr7:g.142460284G>C . GT=0/1;AD=281:42;AB=0.13 GT=0/1;AD=121:20;AB=0.14 GT=0/0;AD=115:0;AB=0.00 PRSS1 NM_002769.4 missense_variant&splice_region_variant p.Asp153His c.457G>C 4/5 False True no no rs61735002 19 164 9 20 0.0015 0.00136 0.00004 0.00066 3 2 Pancreatitis,_hereditary,_167800_(3),_Autosomal_dominant|Trypsinogen_deficiency,_614044_(1),_Autosomal_recessive AD|AR . . . . . 13.56 0.001,0.0 2.08 81 -1.705 0.000 . . .
chr7:151078468 C/T chr7:g.151078468C>T . GT=0/1;AD=116:83;AB=0.42 GT=0/1;AD=49:43;AB=0.47 GT=0/0;AD=77:0;AB=0.00 WDR86 NM_001284261.1,NM_001284260.1,NM_198285.2,NM_001284262.1 missense_variant,synonymous_variant,3_prime_UTR_variant,3_prime_UTR_variant|-|-|- p.Gly271Arg,p.Gly465Gly,.,.|-|-|- c.811G>A,c.1395G>A,c.*200G>A,c.*200G>A|-|-|- 5/5,6/6,6/6,6/6|-|-|- False True no no rs113513284 0 4 11 72 0.0000 0.00111 0.00019 0.00233 2 0 . . . . . . . 7.256 0.0 -2.09 125,.,.,. 0.678 0.000 . . .
chr7:151860731 G/A chr7:g.151860731G>A . GT=0/1;AD=92:111;AB=0.55 GT=0/0;AD=124:0;AB=0.00 GT=0/1;AD=42:43;AB=0.51 KMT2C NM_170606.2 missense_variant p.Leu3311Phe c.9931C>T 43/59 False True no yes rs139610952 8 36 79 28 0.0006 0.00030 0.00032 0.00090 2 0 Kleefstra_syndrome_2,_617768_(3),_Autosomal_dominant AD . . . not_provided . 24.8,24.8 .,0.999,0.996,1.0 5.13,5.13 22 2.579 1.000 . . .
chr7:151944981 C/A,T chr7:g.151944981C>A,chr7:g.151944981C>T Multiallelic GT=0/2;AD=79:6:16;AB=0.06:0.16 GT=0/1;AD=59:13:10;AB=0.16:0.12 GT=0/1;AD=38:5:0;AB=0.12:0.00 KMT2C NM_170606.2 splice_region_variant&intron_variant|splice_region_variant&intron_variant .|. c.2532+6G>T|c.2532+6G>A 14/58|14/58 False True no yes rs3888468 0,0 22160,74 20371,79 0,16 0.0000:0.0000 0.22556:0.00075 0.12050:0.00047 0.00000:0.00052 51:1 60:0 Kleefstra_syndrome_2,_617768_(3),_Autosomal_dominant AD . . . Benign,. COSM5021552|COSM5021551,. . . . .,. 2.579 1.000 . . .
chr7:154379702 G/A chr7:g.154379702G>A . GT=0/1;AD=99:91;AB=0.48 GT=0/1;AD=44:49;AB=0.53 GT=0/0;AD=67:0;AB=0.00 DPP6 NM_001290253.1,NM_130797.3,NM_001039350.2,NM_001290252.1,NM_001936.4 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Glu324Lys,.,.,.,.|-|-|-|- c.970G>A,c.628-49829G>A,c.436-49829G>A,c.441+115701G>A,c.442-49829G>A|-|-|-|- 6/6,5/25,5/25,5/23,5/25|-|-|-|- False True no no . . . 2 . 0.0000 0.00000 0.00001 0.00000 2 0 Mental_retardation,_autosomal_dominant_33,_616311_(3)|{Ventricular_fibrillation,_paroxysmal_familial,_2},_612956_(3),_Autosomal_dominant .|AD . . . . COSM6648973 4.197 0.724 1.03 56,.,.,.,. 2.442 0.346 . . .
chr8:7308697 C/T chr8:g.7308697C>T . GT=1/1;AD=0:5;AB=1.00 GT=1/1;AD=0:2;AB=1.00 GT=0/0;AD=30:0;AB=0.00 SPAG11B NM_058206.3,NM_016512.3,NM_058201.2,NM_058200.2,NM_058202.2,NM_058207.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- p.Arg27Gln,p.Arg80Gln,.,.,.,.|-|-|-|-|- c.80G>A,c.239G>A,c.215-275G>A,c.215-275G>A,c.215-3126G>A,c.56-275G>A|-|-|-|-|- 2/3,3/4,2/2,2/3,2/2,1/1|-|-|-|-|- False True no yes rs201164210 6 5 4 . 0.0005 0.00004 0.00002 0.00000 2 0 . . . . . . COSM422068 2.826 0.043,0.072 -0.272 43,43,.,.,.,. -0.635 0.029 . . .
chr8:9627610 C/T chr8:g.9627610C>T . GT=0/1;AD=58:7;AB=0.11 GT=0/0;AD=40:4;AB=0.09 GT=0/0;AD=33:6;AB=0.15 TNKS NM_003747.2 splice_region_variant&intron_variant . c.3741-6C>T 25/26 False True no yes rs1363103330 . . 49 4 0.0000 0.00000 0.00021 0.00014 5 0 . . . . . . . . . . . 0.974 0.078 . . .
chr8:9627611 C/T chr8:g.9627611C>T . GT=0/1;AD=58:9;AB=0.13 GT=0/0;AD=41:7;AB=0.15 GT=0/0;AD=34:7;AB=0.17 TNKS NM_003747.2 splice_region_variant&intron_variant . c.3741-5C>T 25/26 False True no yes rs778157413 0 3 55 2 0.0000 0.00003 0.00024 0.00007 5 0 . . . . . . . . . . . 0.974 0.078 . . .
chr8:11666253 A/G chr8:g.11666253A>G . GT=0/1;AD=23:29;AB=0.56 GT=0/1;AD=10:7;AB=0.41 GT=0/0;AD=7:2;AB=0.22 FDFT1 NM_001287750.1,NM_001287742.1,NM_001287743.1,NM_001287744.1,NM_001287745.1,NM_001287756.1,NM_004462.4,NM_001287747.1,NM_001287748.1,NM_001287749.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|- p.His76Arg,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|- c.227A>G,c.100-50A>G,c.100-50A>G,c.-93-50A>G,c.-93-50A>G,c.64+5834A>G,c.100-50A>G,c.-93-50A>G,c.-93-50A>G,c.-93-50A>G|-|-|-|-|-|-|-|-|- 1/7,3/9,2/8,1/7,2/8,1/4,1/7,1/7,1/7,1/7|-|-|-|-|-|-|-|-|- False True no no rs760997465;rs758960490 0 0 3 . 0.0000 0.00000 0.00002 0.00000 2 0 Squalene_synthase_deficiency,_618156_(3) . . . . . . . . . 29,.,.,.,.,.,.,.,.,. -4.055 0.000 . . .
chr8:11990834 C/T chr8:g.11990834C>T . GT=1/1;AD=0:143;AB=1.00 GT=0/1;AD=153:72;AB=0.32 GT=0/0;AD=50:0;AB=0.00 FAM66D,USP17L7 NM_001256869.1,NR_027425.1 missense_variant,intron_variant|- p.Ala229Thr,.|- c.685G>A,n.608+11275C>T|- 1/1,2/5|- False True no yes rs546256179 0 62 101 49 0.0000 0.00059 0.00045 0.00167 2 0 . . . . . . . . . . 58,. . . . chr8:11989924:11996271:DEL .
chr8:11991003 C/T chr8:g.11991003C>T . GT=1/1;AD=0:106;AB=1.00 GT=0/1;AD=163:88;AB=0.35 GT=0/0;AD=48:0;AB=0.00 FAM66D,USP17L7 NM_001256869.1,NR_027425.1 missense_variant,intron_variant|- p.Met172Ile,.|- c.516G>A,n.608+11444C>T|- 1/1,2/5|- False True no yes rs528370889 0 84 128 77 0.0000 0.00080 0.00057 0.00263 2 0 . . . . . . . . . . 10,. . . . chr8:11989924:11996271:DEL .
chr8:11991080 G/C chr8:g.11991080G>C . GT=1/1;AD=0:136;AB=1.00 GT=0/1;AD=172:85;AB=0.33 GT=0/0;AD=58:0;AB=0.00 FAM66D,USP17L7 NM_001256869.1,NR_027425.1 missense_variant,intron_variant|- p.Gln147Glu,.|- c.439C>G,n.608+11521G>C|- 1/1,2/5|- False True no yes rs534219585 0 74 112 66 0.0000 0.00070 0.00049 0.00225 2 0 . . . . . . . . . . 29,. . . . chr8:11989924:11996271:DEL .
chr8:11991374 A/C chr8:g.11991374A>C . GT=0/1;AD=103:33;AB=0.24 GT=0/1;AD=234:23;AB=0.09 GT=0/0;AD=48:0;AB=0.00 FAM66D,USP17L7 NM_001256869.1,NR_027425.1 missense_variant,intron_variant|- p.Phe49Val,.|- c.145T>G,n.609-11558A>C|- 1/1,2/5|- False True no yes rs748545592 0 117 106 32 0.0000 0.00108 0.00046 0.00110 2 0 . . . . . . . . . . 50,. . . . chr8:11989924:11996271:DEL .
chr8:11991510 G/T,A chr8:g.11991510G>T,chr8:g.11991510G>A Multiallelic GT=0/2;AD=79:0:54;AB=0.00:0.41 GT=0/2;AD=121:0:38;AB=0.00:0.24 GT=0/0;AD=24:0:0;AB=0.00:0.00 FAM66D,USP17L7 NM_001256869.1,NR_027425.1 -|synonymous_variant,intron_variant|-|- -|p.Asp3Asp,.|-|- -|c.9C>T,n.609-11422G>A|-|- -|1/1,2/5|-|- False False no yes rs115444041 0,0 634,385 955,628 531,262 0.0000:0.0000 0.00589:0.00358 0.00427:0.00281 0.01820:0.00898 2:2 0:0 . . . . . . . . . . 45,.,.,. . . . chr8:11989924:11996271:DEL .
chr8:11994904 C/T chr8:g.11994904C>T . GT=1/1;AD=1:129;AB=0.99 GT=0/1;AD=167:70;AB=0.29 GT=0/0;AD=55:0;AB=0.00 FAM66D,USP17L2 NM_201402.2,NR_027425.1 missense_variant,intron_variant|- p.Glu456Lys,.|- c.1366G>A,n.609-8028C>T|- 1/1,2/5|- False True no yes rs200378249 31 166 344 115 0.0036 0.00153 0.00152 0.00404 2 0 . . . . . . . 1.387 0.989 -0.326 56,. .,-5.341 .,. . chr8:11989924:11996271:DEL .
chr8:13959916 T/C chr8:g.13959916T>C . GT=0/1;AD=46:49;AB=0.52 GT=0/1;AD=17:20;AB=0.54 GT=0/0;AD=33:0;AB=0.00 SGCZ NM_139167.3,NM_001322879.1,NM_001322880.1,NM_001322881.1 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Lys238Arg,p.Lys204Arg,p.Lys197Arg,p.Lys123Arg|-|-|- c.713A>G,c.611A>G,c.590A>G,c.368A>G|-|-|- 7/8,6/7,6/7,6/7|-|-|- False True no no rs148638173 10 99 226 25 0.0008 0.00082 0.00100 0.00081 4 0 . . . . . . . 24.2 0.999,0.999 5.59 26,26,26,26 -0.962 0.000 . . .
chr8:22972212 C/G chr8:g.22972212C>G . GT=0/1;AD=175:26;AB=0.13 GT=0/1;AD=92:16;AB=0.15 GT=0/0;AD=75:0;AB=0.00 TNFRSF10C NM_003841.3 missense_variant p.Thr70Arg c.209C>G 3/5 False True no yes rs1294962330 . . . 156 0.0000 0.00000 0.00000 0.00505 2 0 . . . . . . . 2.744 0.261 -3.22 71 0.923 0.000 . . .
chr8:22972245 A/G chr8:g.22972245A>G . GT=0/1;AD=143:26;AB=0.15 GT=0/1;AD=82:16;AB=0.16 GT=0/0;AD=61:0;AB=0.00 TNFRSF10C NM_003841.3 missense_variant p.Asn81Ser c.242A>G 3/5 False True no yes rs114291970 0 32 12 169 0.0000 0.00026 0.00005 0.00546 2 0 . . . . . . . 2.734 0.997 -3.22 46 0.923 0.000 . . .
chr8:22972248 A/C chr8:g.22972248A>C . GT=0/1;AD=147:27;AB=0.15 GT=0/1;AD=82:15;AB=0.15 GT=0/0;AD=62:0;AB=0.00 TNFRSF10C NM_003841.3 missense_variant p.Glu82Ala c.245A>C 3/5 False True no yes rs114358398 0 28 0 169 0.0000 0.00023 0.00000 0.00546 2 0 . . . . . . . 0.322 0.006 -1.65 107 0.923 0.000 . . .
chr8:22972282 A/G chr8:g.22972282A>G . GT=0/1;AD=101:12;AB=0.11 GT=0/0;AD=69:4;AB=0.06 GT=0/0;AD=36:0;AB=0.00 TNFRSF10C NM_003841.3 splice_region_variant&synonymous_variant p.Ser93Ser c.279A>G 3/5 False True no yes rs144392720 0 17 0 140 0.0000 0.00014 0.00000 0.00453 1 0 . . . . . . . . . . . 0.923 0.000 . . .
chr8:23003380 C/G chr8:g.23003380C>G . GT=0/1;AD=179:36;AB=0.17 GT=0/1;AD=85:36;AB=0.30 GT=0/0;AD=70:1;AB=0.01 TNFRSF10D NM_003840.4 missense_variant p.Lys179Asn c.537G>C 5/9 False True no yes rs148606999 26 297 133 156 0.0020 0.00245 0.00054 0.00505 2 0 . . . . . . . 1.242 0.002 -2.57 94 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23003406 T/C chr8:g.23003406T>C . GT=0/1;AD=144:42;AB=0.23 GT=0/1;AD=80:32;AB=0.29 GT=0/0;AD=55:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Asn171Asp c.511A>G 5/9 False True no yes rs756101376 0 172 62 147 0.0000 0.00142 0.00025 0.00476 2 0 . . . . . . . 0.373 0.001 -3.99 23 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23003442 C/T chr8:g.23003442C>T . GT=0/1;AD=115:17;AB=0.13 GT=0/1;AD=59:22;AB=0.27 GT=0/0;AD=39:0;AB=0.00 TNFRSF10D NM_003840.4 splice_region_variant&intron_variant . c.483-8G>A 4/8 False True no yes rs770495141 0 120 34 113 0.0000 0.00099 0.00014 0.00366 2 0 . . . . . . COSM5044097 . . . . 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012399 C/T chr8:g.23012399C>T . GT=0/1;AD=154:32;AB=0.17 GT=0/1;AD=100:21;AB=0.17 GT=0/0;AD=62:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Glu82Lys c.244G>A 2/9 False True no yes rs1284862247 . . . 156 0.0000 0.00000 0.00000 0.00504 2 0 . . . . . . . 0.897 0.001 -1.85 56 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012402 C/T chr8:g.23012402C>T . GT=0/1;AD=166:32;AB=0.16 GT=0/1;AD=102:21;AB=0.17 GT=0/0;AD=65:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Glu81Lys c.241G>A 2/9 False True no yes rs1358950397 . . . 158 0.0000 0.00000 0.00000 0.00511 2 0 . . . . . . . 9.041 0.003 -0.945 56 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012423 G/C chr8:g.23012423G>C . GT=0/1;AD=191:42;AB=0.18 GT=0/1;AD=110:24;AB=0.18 GT=0/0;AD=73:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Gln74Glu c.220C>G 2/9 False True no yes rs370832356 . . . 169 0.0000 0.00000 0.00000 0.00546 2 0 . . . . . . . 0.002 0.001 -0.472 29 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012426 G/C chr8:g.23012426G>C . GT=0/1;AD=195:42;AB=0.18 GT=0/1;AD=111:25;AB=0.18 GT=0/0;AD=74:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Gln73Glu c.217C>G 2/9 False True no yes rs1204398949 . . . 167 0.0000 0.00000 0.00000 0.00539 2 0 . . . . . . . 0.013 0.003 0.886 29 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012437 A/G chr8:g.23012437A>G . GT=0/1;AD=198:49;AB=0.20 GT=0/1;AD=108:30;AB=0.22 GT=0/0;AD=82:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Val69Ala c.206T>C 2/9 False True no yes rs137870102 57 433 833 270 0.0044 0.00391 0.00339 0.00872 2 0 . . . . . . COSM6472486 0.004 0.003 0.763 64 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012452 A/G chr8:g.23012452A>G . GT=0/1;AD=194:42;AB=0.18 GT=0/1;AD=99:26;AB=0.21 GT=0/0;AD=73:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Val64Ala c.191T>C 2/9 False True no yes rs1384102414 . . . 164 0.0000 0.00000 0.00000 0.00530 2 0 . . . . . . . 0.005 0.001 -0.94 64 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23012464 C/G chr8:g.23012464C>G . GT=0/1;AD=180:39;AB=0.18 GT=0/1;AD=94:23;AB=0.20 GT=0/0;AD=62:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Arg60Pro c.179G>C 2/9 False True no yes rs200139123 . . . 164 0.0000 0.00000 0.00000 0.00530 2 0 . . . . . . . 0.128 0.004 -3.45 103 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23021300 G/C chr8:g.23021300G>C . GT=0/1;AD=136:26;AB=0.16 GT=0/1;AD=91:27;AB=0.23 GT=0/0;AD=65:1;AB=0.01 TNFRSF10D NM_003840.4 missense_variant&splice_region_variant p.Pro50Arg c.149C>G 1/9 False True no yes rs891719852 . . 2 168 0.0000 0.00000 0.00001 0.00543 2 0 . . . . . . . 5.654 0.938 -2.08 103 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23021328 C/G chr8:g.23021328C>G . GT=0/1;AD=153:32;AB=0.17 GT=0/1;AD=112:31;AB=0.22 GT=0/0;AD=67:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Val41Leu c.121G>C 1/9 False True no yes rs1212155628 . . 0 163 0.0000 0.00000 0.00000 0.00528 2 0 . . . . . . . 7.419 0.078 -2.59 32 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23021339 A/G chr8:g.23021339A>G . GT=0/1;AD=158:32;AB=0.17 GT=0/1;AD=109:29;AB=0.21 GT=0/0;AD=68:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Ile37Thr c.110T>C 1/9 False True no yes rs867990441 . . 7 162 0.0000 0.00000 0.00003 0.00525 2 0 . . . . . . . 8.399 0.0 0.282 89 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23021426 A/G chr8:g.23021426A>G . GT=0/1;AD=130:39;AB=0.23 GT=0/1;AD=74:20;AB=0.21 GT=0/0;AD=58:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Val8Ala c.23T>C 1/9 False True no yes rs1296634977 . . . 85 0.0000 0.00000 0.00000 0.00276 2 0 . . . . . . . 5.779 0.0 -1.08 64 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:23021445 C/T chr8:g.23021445C>T . GT=0/1;AD=100:30;AB=0.23 GT=0/1;AD=73:20;AB=0.21 GT=0/0;AD=49:0;AB=0.00 TNFRSF10D NM_003840.4 missense_variant p.Gly2Arg c.4G>A 1/9 False True no yes rs1258691062 . . . 124 0.0000 0.00000 0.00000 0.00402 2 0 . . . . . . . 10.47 0.978 0.808 125 0.074 0.000 . chr8:22995381:23021450:DUP .
chr8:33361351 G/A chr8:g.33361351G>A . GT=0/1;AD=68:83;AB=0.55 GT=0/0;AD=89:1;AB=0.01 GT=0/1;AD=30:13;AB=0.30 TTI2 NM_001102401.2,NM_001265581.1,NM_025115.3 missense_variant,missense_variant,missense_variant|-|- p.Arg344Trp,p.Arg344Trp,p.Arg344Trp|-|- c.1030C>T,c.1030C>T,c.1030C>T|-|- 5/8,5/8,4/7|-|- False True no no rs137898652 4 18 47 7 0.0003 0.00015 0.00019 0.00023 2 0 Mental_retardation,_autosomal_recessive_39,_615541_(3),_Autosomal_recessive AR . . . . . 22.0 0.964,0.941 5.26 101,101,101 -0.255 0.000 . . .
chr8:41555643 C/G chr8:g.41555643C>G . GT=0/1;AD=65:57;AB=0.47 GT=0/1;AD=37:35;AB=0.49 GT=0/0;AD=51:0;AB=0.00 ANK1 NM_001142446.1,NM_000037.3,NM_020475.2,NM_020476.2,NM_020477.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|- .,.,.,.,.|-|-|-|- c.2682-4G>C,c.2559-4G>C,c.2559-4G>C,c.2559-4G>C,c.2559-4G>C|-|-|-|- 24/42,23/42,23/41,23/41,23/41|-|-|-|- False True no no rs542987394 0 4 6 2 0.0000 0.00003 0.00002 0.00006 2 0 Spherocytosis,_type_1,_182900_(3),_Autosomal_dominant AD . . . . . . . . .,.,.,.,. 2.206 1.000 . . .
chr8:80942341 C/G chr8:g.80942341C>G . GT=0/1;AD=93:95;AB=0.51 GT=0/1;AD=44:50;AB=0.53 GT=0/0;AD=69:0;AB=0.00 MRPS28 NM_014018.2 missense_variant p.Arg48Pro c.143G>C 1/3 False True no no rs78308259 104 1032 2082 257 0.0080 0.00881 0.00848 0.00835 2 3 . . . . . . . 9.403,9.403 .,0.004 2.51,2.51 103 -0.109 0.000 . . .
chr8:87165039 C/T chr8:g.87165039C>T . GT=0/1;AD=88:11;AB=0.11 GT=0/0;AD=44:5;AB=0.10 GT=0/0;AD=39:5;AB=0.11 ATP6V0D2 NM_152565.1 splice_region_variant&intron_variant . c.892-6C>T 7/7 False True no no rs1343121465 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . . -0.821 0.000 . . .
chr8:101540233 TAA/TA,T chr8:g.101540234_101540235delAA,chr8:g.101540234_101540235delAA Multiallelic GT=0/2;AD=5:0:3;AB=0.00:0.38 GT=0/0;AD=22:11:11;AB=0.25:0.25 GT=0/0;AD=13:10:10;AB=0.30:0.30 ANKRD46 NM_001270379.1,NM_001270378.1,NM_001270377.1,NM_198401.3 -|splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|-|-|- -|.,.,.,.|-|-|-|-|-|- -|c.312-4delT,c.312-4delT,c.312-4delT,c.312-4delT|-|-|-|-|-|- -|3/5,3/4,3/4,4/5|-|-|-|-|-|- False True no no rs748001702 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 10:4 0:1 . . . . . . . . . . .,.,.,.,.,.,.,. 1.986 0.516 . . .
chr8:101719224 T/TGGATGAGGTCTGGCACCCTGA,TGGATGAGGTCTG,TGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAG chr8:g.101719224_101719225insGGATGAGGTCTGGCACCCTGA,chr8:g.101719224_101719225insGGATGAGGTCTG,chr8:g.101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAG Multiallelic GT=0/1;AD=59:12:0:0;AB=0.17:0.00:0.00 GT=0/0;AD=55:0:0:0;AB=0.00:0.00:0.00 GT=0/0;AD=38:0:0:0;AB=0.00:0.00:0.00 PABPC1 NM_002568.3 frameshift_variant&splice_region_variant|-|- p.Phe447fs|-|- c.1337_1338insCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC|-|- 10/15|-|- True True yes no rs1181241722 0,0,. 346,358,. 314,14,4 .,.,0 0.0000:0.0000:0.0000 0.00305:0.00315:0.00000 0.00138:0.00006:0.00002 0.00000:0.00000:0.00000 3:1:0 2:1:1 . . . . . . . . . . .,.,. 4.853 1.000 . . .
chr8:134072350 G/A chr8:g.134072350G>A . GT=0/1;AD=54:52;AB=0.49 GT=0/0;AD=68:0;AB=0.00 GT=0/1;AD=18:19;AB=0.51 SLA,TG NM_006748.3,NM_001045556.2,NM_001045557.2,NM_001282964.1,NM_003235.4,NM_001282965.1 missense_variant,missense_variant,missense_variant,missense_variant,intron_variant,intron_variant|-|-|-|-|- p.Pro59Leu,p.Pro19Leu,p.Pro36Leu,p.Pro36Leu,.,.|-|-|-|-|- c.176C>T,c.56C>T,c.107C>T,c.107C>T,c.7239+30082G>A,c.-263-9190C>T|-|-|-|-|- 1/7,3/9,2/8,2/7,41/47,1/6|-|-|-|-|- False True no no rs142984250 7 152 283 16 0.0005 0.00129 0.00122 0.00052 2 0 .,{Autoimmune_thyroid_disease,_susceptibility_to,_3},_608175_(3)|Thyroid_dyshormonogenesis_3,_274700_(3),_Autosomal_recessive .|AR . . . . . 14.13 0.0,0.0,0.0,0.0,0.0,0.0 3.7 98,98,98,98,.,. 0.874,-1.196 0.312,0.000 . . .
chr8:141900804 A/C chr8:g.141900804A>C . GT=0/1;AD=67:56;AB=0.46 GT=0/1;AD=52:39;AB=0.43 GT=0/0;AD=64:1;AB=0.01 PTK2 NM_005607.4,NM_001199649.1,NM_153831.3,NM_001316342.1 missense_variant,missense_variant,missense_variant,5_prime_UTR_variant|-|-|- p.Asn33Lys,p.Asn11Lys,p.Asn11Lys,.|-|-|- c.99T>G,c.33T>G,c.33T>G,c.-140T>G|-|-|- 3/32,3/33,3/32,2/33|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 23.5,23.5 0.914,0.829,0.829,0.682,. 0.832,0.832 94,94,94,. 3.615 1.000 . . .
chr8:144658270 G/A chr8:g.144658270G>A . GT=0/1;AD=82:87;AB=0.52 GT=0/1;AD=53:61;AB=0.54 GT=0/0;AD=68:0;AB=0.00 NAPRT NM_145201.5,NM_001286829.1 missense_variant,missense_variant|- p.Ala362Val,p.Ala362Val|- c.1085C>T,c.1085C>T|- 8/13,8/13|- False True no no rs200059887 NA 6 10 1 0.0000 0.00006 0.00004 0.00003 2 0 . . . . . . . 12.03 0.002,0.007,0.002,0.002 1.91 64,64 . . . . .
chr8:145024718 C/A chr8:g.145024718C>A . GT=0/1;AD=116:97;AB=0.46 GT=0/1;AD=55:65;AB=0.54 GT=0/0;AD=98:0;AB=0.00 PLEC NM_201380.3,NM_201379.2,NM_201378.3,NM_000445.4 missense_variant,intron_variant,intron_variant,intron_variant|-|-|- p.Ala53Ser,.,.,.|-|-|- c.157G>T,c.46+3176G>T,c.71-11858G>T,c.194-11858G>T|-|-|- 1/32,1/31,1/31,2/32|-|-|- False True no no rs782817905 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 Epidermolysis_bullosa_simplex_with_muscular_dystrophy,_226670_(3),_Autosomal_recessive|?Epidermolysis_bullosa_simplex_with_nail_dystrophy,_616487_(3),_Autosomal_recessive|Epidermolysis_bullosa_simplex_with_pyloric_atresia,_612138_(3),_Autosomal_recessive|Epidermolysis_bullosa_simplex,_Ogna_type,_131950_(3),_Autosomal_dominant|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_17,_613723_(3),_Autosomal_recessive AR|AR|AR|AD|AR . . . . . 14.46 0.027 2.01 99,.,.,. -2.299 0.000 . . .
chr9:5919923 G/A chr9:g.5919923G>A . GT=0/1;AD=73:59;AB=0.45 GT=0/1;AD=39:41;AB=0.51 GT=0/0;AD=74:0;AB=0.00 KIAA2026 NM_001017969.2 missense_variant p.Pro2025Ser c.6073C>T 8/8 False True no no rs191798690 15 52 81 24 0.0012 0.00043 0.00033 0.00077 2 1 . . . . . . . 1.227 0.0 1.84 74 -4.235 0.546 . . .
chr9:17366610 C/T chr9:g.17366610C>T . GT=0/1;AD=23:35;AB=0.60 GT=0/0;AD=36:0;AB=0.00 GT=0/1;AD=11:10;AB=0.48 CNTLN NM_017738.3 splice_region_variant&intron_variant . c.1887-5C>T 12/25 False True no no rs200209954 1 34 68 2 0.0001 0.00028 0.00030 0.00007 2 0 . . . . . . . . . . . -2.215 0.000 . . .
chr9:19360301 AG/A chr9:g.19360302delG . GT=0/1;AD=60:68;AB=0.53 GT=0/1;AD=35:39;AB=0.53 GT=0/0;AD=57:0;AB=0.00 DENND4C NM_017925.6,NR_073201.3 frameshift_variant,non_coding_transcript_exon_variant|- p.Val1692fs,.|- c.5074delG,n.5026delG|- 28/32,28/32|- True True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,. -0.525 0.000 . . .
chr9:21216760 TGCAAG/T chr9:g.21216761_21216765delGCAAG . GT=0/1;AD=148:23;AB=0.14 GT=0/0;AD=94:8;AB=0.08 GT=0/0;AD=52:0;AB=0.00 IFNA16 NM_002173.3 frameshift_variant p.Asn180fs c.540_544delCTTGC 1/1 True True no yes rs1488701259 . . 5 0 0.0000 0.00000 0.00002 0.00000 3 0 . . . . . . . . . . . -2.828 . . . .
chr9:21216765 G/GTTTTT chr9:g.21216765_21216766insTTTTT . GT=0/1;AD=144:23;AB=0.14 GT=0/0;AD=89:7;AB=0.07 GT=0/0;AD=42:0;AB=0.00 IFNA16 NM_002173.3 frameshift_variant p.Asn180fs c.539_540insAAAAA 1/1 True True no yes rs1264840011 . . 8 0 0.0000 0.00000 0.00003 0.00000 3 0 . . . . . . . . . . . -2.828 . . . .
chr9:27212758 C/T chr9:g.27212758C>T . GT=0/1;AD=139:59;AB=0.30 GT=0/0;AD=63:0;AB=0.00 GT=0/0;AD=63:0;AB=0.00 TEK NM_000459.4,NM_001290077.1,NM_001290078.1 missense_variant,missense_variant,missense_variant|-|- p.Leu914Phe,p.Leu871Phe,p.Leu766Phe|-|- c.2740C>T,c.2611C>T,c.2296C>T|-|- 17/23,16/22,15/21|-|- False True yes yes . . . . . 0.0000 0.00000 0.00000 0.00000 1 0 Glaucoma_3,_primary_congenital,_E,_617272_(3),_Autosomal_dominant|Venous_malformations,_multiple_cutaneous_and_mucosal,_600195_(3),_Autosomal_dominant AD|AD . . . . . 21.8 1.0,1.0,1.0 3.6 22,22,22 1.564 1.000 . . .
chr9:27228303 G/GACCTACGTGAATACCACGCTTTAT chr9:g.27228303_27228304insACCTACGTGAATACCACGCTTTAT . GT=0/1;AD=77:9;AB=0.10 GT=0/0;AD=36:0;AB=0.00 GT=0/0;AD=33:0;AB=0.00 TEK NM_000459.4,NM_001290077.1,NM_001290078.1 splice_donor_variant&intron_variant,splice_donor_variant&intron_variant,splice_donor_variant&intron_variant|-|- .,.,.|-|- c.3300_3300+1insACCTACGTGAATACCACGCTTTAT,c.3171_3171+1insACCTACGTGAATACCACGCTTTAT,c.2856_2856+1insACCTACGTGAATACCACGCTTTAT|-|- 22/22,21/21,20/20|-|- True True yes yes . . . . . 0.0000 0.00000 0.00000 0.00000 1 0 Glaucoma_3,_primary_congenital,_E,_617272_(3),_Autosomal_dominant|Venous_malformations,_multiple_cutaneous_and_mucosal,_600195_(3),_Autosomal_dominant AD|AD . . . . . . . . .,.,. 1.564 1.000 . . .
chr9:27229229 A/AACTCGAGT chr9:g.27229229_27229230insACTCGAGT . GT=0/1;AD=123:33;AB=0.21 GT=0/0;AD=76:0;AB=0.00 GT=0/0;AD=47:0;AB=0.00 TEK NM_000459.4,NM_001290077.1,NM_001290078.1 frameshift_variant,frameshift_variant,frameshift_variant|-|- .,.,.|-|- c.3374_3375insACTCGAGT,c.3245_3246insACTCGAGT,c.2930_2931insACTCGAGT|-|- 23/23,22/22,21/21|-|- True True yes yes . . . . . 0.0000 0.00000 0.00000 0.00000 1 0 Glaucoma_3,_primary_congenital,_E,_617272_(3),_Autosomal_dominant|Venous_malformations,_multiple_cutaneous_and_mucosal,_600195_(3),_Autosomal_dominant AD|AD . . . . . . . . .,.,. 1.564 1.000 . . .
chr9:27548427 ATAATGG/A chr9:g.27548428_27548433delTAATGG . GT=0/1;AD=45:7;AB=0.14 GT=0/0;AD=43:0;AB=0.00 GT=0/0;AD=30:0;AB=0.00 C9orf72 NM_001256054.2,NM_018325.4 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.1260-13_1260-8delCCATTA,c.1260-13_1260-8delCCATTA|- 10/10,10/10|- False True yes no rs779971360;rs755859608 0 46 2 . 0.0000 0.00050 0.00001 0.00000 1 0 Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1,_105550_(3),_Autosomal_dominant AD . . . . . . . . .,. 0.257 0.000 . . .
chr9:32550896 G/C chr9:g.32550896G>C . GT=0/1;AD=73:92;AB=0.56 GT=0/0;AD=100:0;AB=0.00 GT=0/1;AD=44:48;AB=0.52 TOPORS NM_005802.4,NM_001195622.1 missense_variant,intron_variant|- p.Ser25Trp,.|- c.74C>G,c.3+1536C>G|- 2/3,1/1|- False True no no rs61758066 84 955 1983 257 0.0065 0.00848 0.00831 0.00831 2 0 Retinitis_pigmentosa_31,_609923_(3) . . DM? "Retinitis_pigmentosa" Benign/Likely_benign COSM3763883 17.06 0.687 3.43 177,. 1.257 0.999 . . .
chr9:32633635 G/C chr9:g.32633635G>C . GT=0/1;AD=116:140;AB=0.55 GT=0/1;AD=71:67;AB=0.49 GT=0/0;AD=98:0;AB=0.00 TAF1L NM_153809.2 missense_variant p.Ser648Cys c.1943C>G 1/1 False True no no rs202136681 0 15 29 4 0.0000 0.00012 0.00012 0.00013 2 0 . . . . . . . 23.8 0.994 0.633 112 -0.240 0.938 . . .
chr9:32986030 TAAAAAAAAAACAAAAAAAAAAAC/TAAAAAAAAACAAAAAAAAAAAC,T,AAAAAAAAAAACAAAAAAAAAAAC chr9:g.32986031_32986053delAAAAAAAAAACAAAAAAAAAAAC,chr9:g.32986031_32986053delAAAAAAAAAACAAAAAAAAAAAC,chr9:g.32986031_32986053delAAAAAAAAAACAAAAAAAAAAAC Multiallelic GT=1/3;AD=0:6:0:4;AB=0.60:0.00:0.40 GT=0/0;AD=16:4:4:4;AB=0.14:0.14:0.14 GT=1/1;AD=0:5:0:0;AB=1.00:0.00:0.00 APTX NM_001195248.1,NM_001195249.1,NR_036579.1,NM_001195254.1,NR_036578.1,NM_001195250.1,NM_001195251.1,NM_001195252.1,NM_175069.2,NM_175073.2,NR_036576.1,NR_036577.1 splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- .,.,.,.,.,.,.,.,.,.,.,.|-|.,.,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- c.526-2A>T,c.484-2A>T,n.727-2A>T,c.322-2A>T,n.580-2A>T,c.364-2A>T,c.484-2A>T,c.310-2A>T,c.526-2A>T,c.484-2A>T,n.558-2A>T,n.448-2A>T|-|c.526-2A>T,c.484-2A>T,n.727-2A>T,c.322-2A>T,n.580-2A>T,c.364-2A>T,c.484-2A>T,c.310-2A>T,c.526-2A>T,c.484-2A>T,n.558-2A>T,n.448-2A>T|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- 4/7,4/7,4/7,3/6,4/7,3/6,5/8,4/7,4/7,5/8,4/7,4/7|-|4/7,4/7,4/7,3/6,4/7,3/6,5/8,4/7,4/7,5/8,4/7,4/7|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- True True no no rs779869639 NA,0,NA 8763,250,22 .,.,. .,.,. 0.0000:0.0000:0.0000 0.16531:0.00472:0.00042 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 12:2:1 11:0:0 Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia,_208920_(3),_Autosomal_recessive AR . . . .,Likely_benign,. . 16.25 . 5.63 .,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,. -0.204 0.000 . . .
chr9:34490009 G/C chr9:g.34490009G>C . GT=0/1;AD=19:24;AB=0.56 GT=0/1;AD=20:22;AB=0.52 GT=0/0;AD=29:0;AB=0.00 DNAI1 NM_012144.3,NM_001281428.1 splice_acceptor_variant&intron_variant,missense_variant|- .,p.Gly134Arg|- c.389-1G>C,c.400G>C|- 5/19,6/20|- True True no no rs200488444 2 52 101 7 0.0002 0.00045 0.00041 0.00023 4 0 Ciliary_dyskinesia,_primary,_1,_with_or_without_situs_inversus,_244400_(3),_Autosomal_recessive AR . . . Likely_pathogenic COSM4986120 26.6 . 5.35 .,125 -0.136 0.000 . . .
chr9:35906599 C/CCCCCACCGCCACCAT chr9:g.35906599_35906600insCCCCACCGCCACCAT . GT=0/1;AD=60:34;AB=0.36 GT=1/1;AD=2:55;AB=0.96 GT=0/0;AD=68:0;AB=0.00 HRCT1 NM_001039792.1 disruptive_inframe_insertion p.His107_Pro111dup c.320_334dupACCGCCACCATCCCC 1/1 False True no no rs747453261 0 17 . 151 0.0000 0.00053 0.00000 0.00539 2 1 . . . . . . . . . . . -0.119 . . . .
chr9:69391102 A/T chr9:g.69391102A>T . GT=0/1;AD=31:4;AB=0.11 GT=0/0;AD=22:0;AB=0.00 GT=0/0;AD=16:0;AB=0.00 ANKRD20A4 NM_001098805.1 missense_variant p.Met204Leu c.610A>T 5/15 False True yes no rs1426957386 . . . 18 0.0000 0.00000 0.00000 0.00068 1 0 . . . . . . . 0.046 0.0 0.208 15 -0.686 0.000 . . .
chr9:77454985 C/A chr9:g.77454985C>A . GT=0/1;AD=50:50;AB=0.50 GT=0/1;AD=35:26;AB=0.43 GT=0/0;AD=54:0;AB=0.00 TRPM6 NM_017662.4,NM_001177311.1,NM_001177310.1 missense_variant,missense_variant,missense_variant|-|- p.Ala167Ser,p.Ala162Ser,p.Ala162Ser|-|- c.499G>T,c.484G>T,c.484G>T|-|- 5/39,5/39,5/39|-|- False True no no rs141014694 5 29 73 4 0.0004 0.00024 0.00030 0.00013 2 0 Hypomagnesemia_1,_intestinal,_602014_(3),_Autosomal_recessive AR . . . Uncertain_significance . 31 1.0,1.0,1.0,0.999,1.0,0.999 5.86 99,99,99 1.852 0.000 . . .
chr9:91089985 T/A chr9:g.91089985T>A . GT=0/1;AD=14:8;AB=0.36 GT=0/1;AD=4:9;AB=0.69 GT=0/0;AD=19:2;AB=0.10 SPIN1 NM_006717.2 splice_region_variant&intron_variant . c.590-8T>A 5/5 False True no no rs759678004;rs771063455 0 18 147 188 0.0000 0.00028 0.00117 0.00709 2 0 . . . . . . . . . . . 3.359 0.970 . . .
chr9:95237024 CTCATCA/CTCA,C,CTCATCATCA,CTCATCATCATCA,CTCATCATCATCATCA,CTCCTCATCATCATCATCA chr9:g.95237025_95237030delTCATCA,chr9:g.95237025_95237030delTCATCA,chr9:g.95237025_95237030delTCATCA,chr9:g.95237025_95237030delTCATCA,chr9:g.95237025_95237030delTCATCA,chr9:g.95237025_95237030delTCATCA Multiallelic GT=1/6;AD=0:43:3:0:0:0:24;AB=0.61:0.04:0.00:0.00:0.00:0.34 GT=1/3;AD=2:25:3:16:0:0:0;AB=0.54:0.07:0.35:0.00:0.00:0.00 GT=1/6;AD=1:15:0:0:0:0:11;AB=0.56:0.00:0.00:0.00:0.00:0.41 ASPN,CENPP NM_017680.4,NM_001193335.1,NM_001012267.2,NM_001286969.1 splice_acceptor_variant&splice_donor_variant&disruptive_inframe_deletion&splice_region_variant&intron_variant,splice_acceptor_variant&splice_donor_variant&disruptive_inframe_deletion&splice_region_variant&intron_variant,intron_variant,intron_variant|-|splice_donor_variant&intron_variant,splice_donor_variant&intron_variant,intron_variant,intron_variant|-|-|conservative_inframe_insertion,conservative_inframe_insertion,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- p.Asp50del,p.Asp50del,.,.|-|.,.,.,.|-|-|p.Asp49_Asp50dup,p.Asp49_Asp50dup,.,.|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- c.150_153-1delTGATGA,c.150_153-1delTGATGA,c.564+94922_564+94927delATCATC,c.228+94922_228+94927delATCATC|-|c.152+1_152+2insGATGATGATGAG,c.152+1_152+2insGATGATGATGAG,c.564+94885_564+94886insCTCATCATCATC,c.228+94885_228+94886insCTCATCATCATC|-|-|c.144_149dupTGATGA,c.144_149dupTGATGA,c.564+94922_564+94927dupATCATC,c.228+94922_228+94927dupATCATC|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- 2/9,2/7,5/7,4/6|-|2/8,2/6,5/7,4/6|-|-|2/9,2/7,5/7,4/6|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- True True no no rs878983183;rs376433743 .,.,.,.,.,. .,.,.,.,.,. .,.,.,.,.,. 12043,1301,7628,2124,870,. 0.0000:0.0000:0.0000:0.0000:0.0000:0.0000 0.00000:0.00000:0.00000:0.00000:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000:0.00000:0.00000 0.41320:0.04464:0.26172:0.07287:0.02985:0.00000 34:0:27:3:1:3 70:11:45:11:12:2 {Lumbar_disc_degeneration},_603932_(3)|{Osteoarthritis_susceptibility_3},_607850_(3),_Autosomal_dominant,. .|AD,. . . . . .,COSM5064157|COSM5064158,.,.,.,. . . . .,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,. 0.781,0.358 0.000,0.049 . . .
chr9:97087911 C/T chr9:g.97087911C>T . GT=0/1;AD=59:32;AB=0.35 GT=0/1;AD=23:18;AB=0.44 GT=0/0;AD=39:0;AB=0.00 NUTM2F NM_017561.1 missense_variant p.Val108Ile c.322G>A 2/7 False True no no rs199737951 0 11 38 1 0.0000 0.00019 0.00017 0.00003 2 0 . . . . . . . 4.599 0.015 -0.00199 29 -0.248 0.000 . . .
chr9:99694495 G/A chr9:g.99694495G>A . GT=0/1;AD=167:122;AB=0.42 GT=0/1;AD=152:80;AB=0.34 GT=0/0;AD=103:1;AB=0.01 NUTM2G NM_001170741.1,NM_001045477.2 missense_variant,missense_variant|- p.Val170Met,p.Val170Met|- c.508G>A,c.508G>A|- 2/7,2/7|- False True no no rs200771234 2 30 51 4 0.0002 0.00025 0.00021 0.00013 2 0 . . . . . . COSM2733877|COSM2733876 0.304 0.014 -2.06 21,21 -0.204 0.000 . . .
chr9:111819564 C/A chr9:g.111819564C>A . GT=0/1;AD=60:69;AB=0.54 GT=0/1;AD=32:23;AB=0.42 GT=0/0;AD=47:0;AB=0.00 TMEM245 NM_032012.3 missense_variant p.Leu587Phe c.1761G>T 12/18 False True no no rs201566707 4 48 82 4 0.0003 0.00040 0.00033 0.00013 2 0 . . . . . . . 19.63,19.63 .,0.045,0.047 4.56,4.56 22 1.427 0.000 . . .
chr9:115613134 CA/C chr9:g.115613135delA . GT=0/1;AD=44:56;AB=0.56 GT=0/1;AD=35:21;AB=0.38 GT=0/0;AD=39:0;AB=0.00 SNX30 NM_001012994.1 splice_region_variant&intron_variant . c.1015-4delA 6/8 False True no no rs1369776714 . . 2 . 0.0000 0.00000 0.00001 0.00000 2 0 . . . . . . . . . . . 0.849 0.537 . . .
chr9:115806006 A/G chr9:g.115806006A>G . GT=0/1;AD=68:73;AB=0.52 GT=0/0;AD=107:0;AB=0.00 GT=0/1;AD=34:30;AB=0.47 ZFP37 NM_001282515.1,NM_001282518.1,NM_003408.2 missense_variant,missense_variant,missense_variant|-|- p.Cys313Arg,p.Cys299Arg,p.Cys298Arg|-|- c.937T>C,c.895T>C,c.892T>C|-|- 4/4,4/4,4/4|-|- False True no no rs112145149 30 248 589 52 0.0023 0.00204 0.00239 0.00168 2 1 . . . . . . . 11.03 0.999,0.999,1.0 3.07 180,180,180 0.415 0.000 . . .
chr9:117822072 C/T chr9:g.117822072C>T . GT=0/1;AD=78:77;AB=0.50 GT=0/1;AD=37:49;AB=0.57 GT=0/0;AD=64:0;AB=0.00 TNC NM_002160.3 missense_variant p.Val1415Ile c.4243G>A 14/28 False True no no rs141482844 2 12 20 4 0.0002 0.00010 0.00008 0.00013 2 0 Deafness,_autosomal_dominant_56,_615629_(3),_Autosomal_dominant AD . . . . . 16.54 0.003,0.003 3.37 29 0.055 0.000 . . .
chr9:125486365 C/T chr9:g.125486365C>T . GT=0/1;AD=95:84;AB=0.47 GT=0/1;AD=49:55;AB=0.53 GT=0/0;AD=65:0;AB=0.00 OR1L4 NM_001005235.1 missense_variant p.Leu33Phe c.97C>T 1/1 False True no no rs142601071 60 271 636 86 0.0046 0.00223 0.00258 0.00278 4 1 . . . . . . . 11.86 0.005 -0.215 22 -0.423 0.000 . . .
chr9:131397367 G/A chr9:g.131397367G>A . GT=0/1;AD=42:31;AB=0.42 GT=0/1;AD=28:28;AB=0.50 GT=0/0;AD=41:0;AB=0.00 MIR1268A,WDR34 NM_052844.3,NR_031672.1.4 splice_region_variant&intron_variant,intron_variant|- .,.|- c.981+4C>T,n.30-27026G>A|- 6/8,2/2|- False True no no rs375985561 1 15 29 2 0.0001 0.00013 0.00012 0.00006 2 0 .,Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly,_615633_(3),_Autosomal_recessive AR . . . . . . . . .,. .,-0.060 .,0.000 . . .
chr9:140328793 A/G chr9:g.140328793A>G . GT=0/1;AD=94:56;AB=0.37 GT=0/1;AD=57:41;AB=0.42 GT=0/0;AD=60:0;AB=0.00 NOXA1 NM_006647.1,NM_001256067.1,NM_001256068.1 missense_variant,missense_variant,missense_variant|-|- p.Gln478Arg,p.Gln471Arg,p.Gln422Arg|-|- c.1433A>G,c.1412A>G,c.1265A>G|-|- 14/14,14/14,12/12|-|- False True no no rs138695705 14 114 205 25 0.0011 0.00100 0.00087 0.00081 4 0 . . . . . . . 6.058 0.654,0.271,0.439 0.156 43,43,43 0.840 0.000 . . .
chr10:5437414 C/G chr10:g.5437414C>G . GT=0/1;AD=66:75;AB=0.53 GT=0/1;AD=36:47;AB=0.57 GT=0/0;AD=65:1;AB=0.01 TUBAL3 NM_024803.2,NM_001171864.1 missense_variant,missense_variant|- p.Arg91Pro,p.Arg51Pro|- c.272G>C,c.152G>C|- 3/4,3/4|- False True no no rs141364432 25 216 435 57 0.0019 0.00186 0.00192 0.00184 2 3 . . . . . . . 23.5 0.919,0.952 -0.239 103,103 -0.279 0.000 . . .
chr10:15902277 G/A chr10:g.15902277G>A . GT=0/1;AD=77:58;AB=0.43 GT=0/0;AD=70:0;AB=0.00 GT=0/1;AD=24:23;AB=0.49 FAM188A NM_024948.3,NM_001318330.1 synonymous_variant,5_prime_UTR_premature_start_codon_gain_variant|-|- p.Leu8Leu,.|-|- c.22C>T,c.-446C>T|-|- 1/15,1/14|-|- False True no no rs776033737 0 2 2 . 0.0000 0.00003 0.00001 0.00000 2 0 . . . . . . . . . . .,.,. 0.634 0.514 . . .
chr10:25313047 T/G chr10:g.25313047T>G . GT=0/1;AD=89:75;AB=0.46 GT=0/0;AD=95:0;AB=0.00 GT=0/1;AD=34:40;AB=0.54 ENKUR,THNSL1 NM_024838.4,NM_001270383.1 missense_variant,intron_variant|- p.Cys299Gly,.|- c.895T>G,c.38-28249A>C|- 3/3,2/5|- False True no no rs764852189 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 . . . . . . . 27.4 0.996 5.71 159,. 0.002,-0.432 0.000,0.000 . . .
chr10:29747416 C/G chr10:g.29747416C>G . GT=0/1;AD=78:57;AB=0.42 GT=0/0;AD=76:0;AB=0.00 GT=0/1;AD=26:29;AB=0.53 SVIL,SVIL-AS1 NM_021738.2,NM_003174.3,NM_001323600.1,NM_001323599.1,NR_110925.1,NR_110926.1,NR_110929.1,NR_110921.1,NR_110922.1,NR_110927.1,NR_110928.1,NR_110920.1 missense_variant,missense_variant,missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,non_coding_transcript_exon_variant|-|-|-|-|-|-|-|-|-|-|- p.Glu2169Gln,p.Glu1743Gln,p.Glu1775Gln,p.Glu1859Gln,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|- c.6505G>C,c.5227G>C,c.5323G>C,c.5575G>C,n.207-8753C>G,n.182-8753C>G,n.182-10433C>G,n.207-24346C>G,n.182-24346C>G,n.182-28668C>G,n.276-10433C>G,n.420C>G|-|-|-|-|-|-|-|-|-|-|- 37/38,35/36,36/37,38/39,2/2,2/2,2/2,2/2,2/2,2/2,2/2,3/4|-|-|-|-|-|-|-|-|-|-|- False True no yes . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . COSM7167939 24.4 0.857,0.364,0.757 4.39 29,29,29,29,.,.,.,.,.,.,.,. 0.974,. 0.000,. . . .
chr10:29815911 C/T chr10:g.29815911C>T . GT=0/1;AD=48:61;AB=0.56 GT=0/1;AD=37:35;AB=0.49 GT=0/0;AD=37:0;AB=0.00 SVIL NM_021738.2,NM_001323600.1,NM_001323599.1,NM_003174.3 missense_variant,missense_variant,missense_variant,intron_variant|-|-|- p.Arg774Lys,p.Arg380Lys,p.Arg464Lys,.|-|-|- c.2321G>A,c.1139G>A,c.1391G>A,c.1065-2267G>A|-|-|- 13/38,12/37,14/39,11/35|-|-|- False True no yes rs765406511 0 2 4 . 0.0000 0.00002 0.00002 0.00000 2 0 . . . . . . . 16.50 0.0 2.3 26,26,26,. 0.974 0.000 . . .
chr10:35897043 T/C chr10:g.35897043T>C . GT=0/1;AD=108:97;AB=0.47 GT=0/0;AD=108:1;AB=0.01 GT=0/1;AD=42:50;AB=0.54 GJD4 NM_153368.2 missense_variant p.Leu201Pro c.602T>C 2/2 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 12.72 0.997 3.25 98 -0.937 0.016 . . .
chr10:38121693 T/C chr10:g.38121693T>C . GT=0/1;AD=74:67;AB=0.47 GT=0/0;AD=86:0;AB=0.00 GT=0/1;AD=25:33;AB=0.57 ZNF248 NM_001267597.1,NM_021045.2,NM_001267607.1,NM_001267605.1,NM_001267606.1 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Asn197Ser,p.Asn197Ser,.,.,.|-|-|-|- c.590A>G,c.590A>G,c.330+260A>G,c.330+260A>G,c.330+260A>G|-|-|-|- 6/6,6/6,6/6,6/6,4/4|-|-|-|- False True no no rs146633481 22 172 316 46 0.0017 0.00143 0.00129 0.00149 3 0 . . . . . . . 1.252 0.003 2.4 46,46,.,.,. 0.587 0.373 . . .
chr10:44111828 A/G chr10:g.44111828A>G . GT=0/1;AD=83:61;AB=0.42 GT=0/1;AD=46:33;AB=0.42 GT=0/0;AD=38:0;AB=0.00 ZNF485 NM_001318140.1,NM_001318141.1,NM_001318142.1,NM_001318143.1,NM_145312.3 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Met113Val,p.Met113Val,p.Met22Val,p.Met22Val,p.Met113Val|-|-|-|- c.337A>G,c.337A>G,c.64A>G,c.64A>G,c.337A>G|-|-|-|- 5/5,5/5,4/4,3/3,5/5|-|-|-|- False True no no rs151057909 1 23 63 3 0.0001 0.00019 0.00026 0.00010 2 0 . . . . . . . 0.035 0.0 1.84 21,21,21,21,21 0.725 0.000 . . .
chr10:51592535 A/G chr10:g.51592535A>G . GT=0/1;AD=48:38;AB=0.44 GT=0/0;AD=48:0;AB=0.00 GT=0/1;AD=15:18;AB=0.55 TIMM23,TIMM23B NM_006327.3,NM_001290117.1,NM_001290118.1,NR_110767.1,NR_135475.1,NR_073029.1,NR_073030.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|-|- p.Met200Thr,.,.,.,.,.,.|-|-|-|-|-|- c.599T>C,c.515-140237A>G,c.371-140237A>G,n.801-140237A>G,n.677-140237A>G,n.895T>C,n.712T>C|-|-|-|-|-|- 7/7,6/6,4/4,7/7,6/7,8/8,6/6|-|-|-|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 15.41 0.072,0.167 5.41 81,.,.,.,.,.,. 0.819,0.515 0.139,0.125 . . .
chr10:61829930 G/A chr10:g.61829930G>A . GT=0/1;AD=69:91;AB=0.57 GT=0/1;AD=39:48;AB=0.55 GT=0/0;AD=86:0;AB=0.00 ANK3 NM_020987.4,NM_001149.3,NM_001320874.1,NM_001204404.1,NM_001204403.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Ala3570Val,.,.,.,.|-|-|-|- c.10709C>T,c.1808-2163C>T,c.4406-2163C>T,c.4409-2163C>T,c.4388-2163C>T|-|-|-|- 37/44,13/20,35/42,36/43,36/43|-|-|-|- False True no yes rs762671321 0 3 5 5 0.0000 0.00002 0.00002 0.00016 2 0 ?Mental_retardation,_autosomal_recessive,_37,_615493_(3),_Autosomal_recessive AR . . . . COSM6851720 24.4 0.918 4.87 64,.,.,.,. 3.163 1.000 . . .
chr10:61833723 T/C chr10:g.61833723T>C . GT=0/1;AD=74:75;AB=0.50 GT=0/1;AD=54:51;AB=0.49 GT=0/0;AD=46:0;AB=0.00 ANK3 NM_020987.4,NM_001149.3,NM_001320874.1,NM_001204404.1,NM_001204403.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Lys2306Glu,.,.,.,.|-|-|-|- c.6916A>G,c.1808-5956A>G,c.4406-5956A>G,c.4409-5956A>G,c.4388-5956A>G|-|-|-|- 37/44,13/20,35/42,36/43,36/43|-|-|-|- False True no yes rs144270555 3 28 44 4 0.0002 0.00023 0.00018 0.00013 2 0 ?Mental_retardation,_autosomal_recessive,_37,_615493_(3),_Autosomal_recessive AR . . . Uncertain_significance . 15.87 0.003 5.94 56,.,.,.,. 3.163 1.000 . . .
chr10:70992897 G/A chr10:g.70992897G>A . GT=0/1;AD=39:43;AB=0.52 GT=0/0;AD=44:0;AB=0.00 GT=0/1;AD=25:14;AB=0.36 HKDC1 NM_025130.3 splice_region_variant&intron_variant . c.495+8G>A 4/17 False True no no rs775860660 0 1 6 1 0.0000 0.00001 0.00002 0.00003 2 0 . . . . . . . . . . . -0.149 0.000 . . .
chr10:95076472 C/G chr10:g.95076472C>G . GT=0/1;AD=46:42;AB=0.48 GT=0/1;AD=26:19;AB=0.42 GT=0/0;AD=38:0;AB=0.00 MYOF NM_013451.3,NM_133337.2 missense_variant&splice_region_variant,missense_variant&splice_region_variant|- p.Leu1899Phe,p.Leu1886Phe|- c.5697G>C,c.5658G>C|- 50/54,49/53|- False True no no rs186936190 4 15 39 3 0.0003 0.00012 0.00016 0.00010 2 0 . . . . . . . 24.6 0.999,0.999 2.29 22,22 0.212 0.000 . . .
chr10:96493060 A/G chr10:g.96493060A>G . GT=0/1;AD=65:67;AB=0.51 GT=0/0;AD=81:0;AB=0.00 GT=0/1;AD=21:29;AB=0.58 CYP2C18 NM_000772.2,NM_001128925.1 missense_variant,missense_variant|- p.Thr386Ala,p.Thr327Ala|- c.1156A>G,c.979A>G|- 8/9,7/8|- False True no no rs771494275 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . COSM4440904 5.809 0.735,0.018 0.252 58,58 -0.848 0.000 . . .
chr10:97604351 G/C chr10:g.97604351G>C . GT=0/1;AD=69:61;AB=0.47 GT=0/0;AD=81:0;AB=0.00 GT=0/1;AD=22:31;AB=0.58 ENTPD1,ENTPD1-AS1 NM_001164178.1,NM_001098175.1,NM_001164181.1,NM_001312654.1,NM_001320916.1,NM_001164179.1,NM_001164182.1,NM_001164183.1,NM_001776.5,NR_038444.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,intron_variant|-|-|-|-|-|-|-|-|- p.Gly190Arg,p.Gly185Arg,p.Gly70Arg,p.Gly70Arg,p.Gly190Arg,p.Gly178Arg,p.Gly40Arg,p.Gly40Arg,p.Gly178Arg,.|-|-|-|-|-|-|-|-|- c.568G>C,c.553G>C,c.208G>C,c.208G>C,c.568G>C,c.532G>C,c.118G>C,c.118G>C,c.532G>C,n.533+2798C>G|-|-|-|-|-|-|-|-|- 5/10,5/10,4/9,5/10,5/10,5/10,4/9,3/8,5/10,4/5|-|-|-|-|-|-|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Spastic_paraplegia_64,_autosomal_recessive,_615683_(3),_Autosomal_recessive,. AR,. . . . . . 21.7 1.0,1.0,1.0,1.0,1.0 5.83 125,125,125,125,125,125,125,125,125,. 1.038,. 0.006,. . . .
chr10:98742225 C/T chr10:g.98742225C>T . GT=0/1;AD=65:64;AB=0.50 GT=0/0;AD=90:0;AB=0.00 GT=0/1;AD=35:31;AB=0.47 C10orf12 NM_015652.2 missense_variant p.Leu360Phe c.1078C>T 1/1 False True no no rs149255891 9 100 215 24 0.0007 0.00082 0.00087 0.00077 2 1 . . . . . . . 2.221 0.958,0.958 -0.461 22 1.553 1.000 . . .
chr10:102768462 C/T chr10:g.102768462C>T . GT=0/1;AD=88:88;AB=0.50 GT=0/0;AD=94:0;AB=0.00 GT=0/1;AD=37:34;AB=0.48 PDZD7 NM_001195263.1 missense_variant p.Arg955Gln c.2864G>A 17/17 False True no no rs980569540 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 Deafness,_autosomal_recessive_57,_618003_(3),_Autosomal_recessive|{Retinal_disease_in_Usher_syndrome_type_IIA,_modifier_of},_276901_(3),_Autosomal_recessive|Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic,_605472_(3),_Autosomal_recessive AR|AR|AR . . . . . 10.69 . -9.97 43 -0.343 0.000 . . .
chr10:124348579 G/A chr10:g.124348579G>A . GT=0/1;AD=167:131;AB=0.44 GT=0/1;AD=96:104;AB=0.52 GT=0/0;AD=73:0;AB=0.00 DMBT1 NM_007329.2,NM_001320644.1,NM_017579.2,NM_004406.2 missense_variant,missense_variant,missense_variant,intron_variant|-|-|- p.Asp635Asn,p.Asp635Asn,p.Asp625Asn,.|-|-|- c.1903G>A,c.1903G>A,c.1873G>A,c.1034-5433G>A|-|-|- 17/53,17/53,16/52,11/39|-|-|- False True no no rs186303194 8 100 224 7 0.0006 0.00084 0.00093 0.00023 2 1 . . . . . . . 16.04 0.983,0.983,0.987 4.19 23,23,23,. -2.070 0.000 . . .
chr10:134999607 G/A chr10:g.134999607G>A . GT=0/1;AD=77:87;AB=0.53 GT=0/0;AD=88:0;AB=0.00 GT=0/1;AD=37:36;AB=0.49 KNDC1 NM_152643.6 missense_variant p.Arg252Gln c.755G>A 6/30 False True no no rs201213037 41 359 863 164 0.0033 0.00507 0.00417 0.00533 4 1 . . . . . . . 0.809 0.006,0.964 -5.34 43 1.217 0.146 . . .
chr11:824129 C/A chr11:g.824129C>A . GT=0/1;AD=56:36;AB=0.39 GT=0/0;AD=58:2;AB=0.03 GT=0/1;AD=20:20;AB=0.50 PNPLA2 NM_020376.3 missense_variant&splice_region_variant p.Arg351Ser c.1051C>A 8/10 False True no no rs745382468 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 Neutral_lipid_storage_disease_with_myopathy,_610717_(3),_Autosomal_recessive AR . . . . . 15.59 1.0 3.25 110 0.174 0.004 . . .
chr11:1026001 G/A chr11:g.1026001G>A . GT=0/1;AD=129:114;AB=0.47 GT=0/0;AD=141:0;AB=0.00 GT=0/1;AD=57:51;AB=0.47 MUC6 NM_005961.2 missense_variant&splice_region_variant p.Thr896Met c.2687C>T 21/33 False True no no rs191759836 41 217 625 81 0.0033 0.00443 0.00312 0.00262 2 0 . . . . . . . 22.5 0.999 3.91 81 1.885 0.000 . . .
chr11:1258213 C/T chr11:g.1258213C>T . GT=0/1;AD=215:112;AB=0.34 GT=0/1;AD=138:69;AB=0.33 GT=0/0;AD=152:1;AB=0.01 MUC5B NM_002458.2 missense_variant p.Thr1039Met c.3116C>T 25/49 False True no yes rs61742791 28 52 113 58 0.0022 0.00050 0.00051 0.00188 2 1 {Pulmonary_fibrosis,_idiopathic,_susceptibility_to},_178500_(3),_Autosomal_dominant AD . . . . . 14.15 1.0,1.0,1.0 4.38 81 -1.829 1.000 . . .
chr11:1266412 C/T chr11:g.1266412C>T . GT=0/1;AD=30:24;AB=0.44 GT=0/1;AD=20:12;AB=0.38 GT=0/0;AD=25:0;AB=0.00 MUC5B NM_002458.2 missense_variant p.Arg2768Cys c.8302C>T 31/49 False True no yes rs377668969 18 31 119 66 0.0017 0.00139 0.00071 0.00236 2 0 {Pulmonary_fibrosis,_idiopathic,_susceptibility_to},_178500_(3),_Autosomal_dominant AD . . . . . 3.420 0.301,0.188 1.62 180 -1.829 1.000 . . .
chr11:1605957 C/CCTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT,T chr11:g.1605957_1605958insCTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT,chr11:g.1605957C>T Multiallelic GT=0/1;AD=49:21:0;AB=0.30:0.00 GT=0/0;AD=115:1:1;AB=0.01:0.01 GT=0/2;AD=30:0:32;AB=0.00:0.52 KRTAP5-1,KRTAP5-AS1 NM_001005922.1,NR_021489.1 missense_variant,intron_variant|conservative_inframe_insertion,intron_variant|-|- p.Gly175Arg,.|p.Lys174_Gly175insArgGlyCysGlySerCysGlyGlyCysLysGlyGlyCysGlySerCysGlyGlySerLys,.|-|- c.523G>A,n.328+11659C>T|c.522_523insAGGGGCTGTGGCTCCTGTGGAGGCTGCAAGGGGGGCTGCGGTTCTTGTGGGGGCTCCAAG,n.328+11680_328+11681insGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCTCTTGGAGCCCCCACAAGAACC|-|- 1/1,1/1|1/1,1/1|-|- False True yes no rs151275365 0,123 31,624 449,776 71,64 0.0000:0.0095 0.00026:0.00522 0.00185:0.00319 0.00244:0.00220 2:2 0:3 . . . . . . . 13.44 0.713 2.91 125,.,.,. -1.003,. 0.088,. . . .
chr11:3381989 C/T chr11:g.3381989C>T . GT=0/1;AD=62:59;AB=0.49 GT=0/1;AD=46:32;AB=0.41 GT=0/0;AD=57:0;AB=0.00 ZNF195 NM_001130520.2,NM_001242842.1,NM_001130519.2,NM_001242841.1,NM_001242843.1,NM_001256823.1,NM_001256824.1,NM_001256825.1,NM_007152.4,NR_040083.1,NR_046381.1,NR_046382.1 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|- p.Val135Met,p.Val90Met,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|- c.403G>A,c.268G>A,c.374-194G>A,c.386-194G>A,c.239-194G>A,c.*23-194G>A,c.332-194G>A,c.239-194G>A,c.227-194G>A,n.773-194G>A,n.693-194G>A,n.595-194G>A|-|-|-|-|-|-|-|-|-|-|- 5/6,5/6,4/4,5/5,4/4,5/5,5/5,4/4,3/3,5/5,6/6,4/4|-|-|-|-|-|-|-|-|-|-|- False True no no rs1484318346 . . 1 . 0.0000 0.00000 0.00001 0.00000 2 0 . . . . . . . 0.023 0.022 -0.602 21,21,.,.,.,.,.,.,.,.,.,. 1.313 0.003 . . .
chr11:5510709 CCTT/C chr11:g.5510710_5510712delCTT . GT=0/1;AD=66:50;AB=0.43 GT=0/0;AD=102:1;AB=0.01 GT=0/1;AD=31:17;AB=0.35 OR51B5,OR52D1 NM_001005163.2,NM_001005567.2,NR_038321.1 disruptive_inframe_deletion,intron_variant,intron_variant|-|- p.Phe260del,.,.|-|- c.779_781delTCT,c.-360+16087_-360+16089delAAG,n.84+16087_84+16089delAAG|-|- 1/1,1/4,1/4|-|- False True no no rs561821761 47 357 685 94 0.0038 0.00294 0.00278 0.00303 2 1 . . . . . . COSM5360427 . . . .,.,. -1.048,-0.906 0.000,0.001 . . .
chr11:6023744 A/T chr11:g.6023744A>T . GT=0/1;AD=73:99;AB=0.58 GT=0/0;AD=111:0;AB=0.00 GT=0/1;AD=39:42;AB=0.52 OR56A4 NM_001005179.2 missense_variant p.Leu212His c.635T>A 1/1 False True no no rs373579084 2 10 24 . 0.0002 0.00008 0.00010 0.00000 2 0 . . . . . . . 24.0 0.93 2.61 99 -0.428 0.009 . . .
chr11:6422859 C/T chr11:g.6422859C>T . GT=0/1;AD=60:50;AB=0.46 GT=0/0;AD=60:0;AB=0.00 GT=0/1;AD=28:27;AB=0.49 APBB1 NM_001164.4,NM_001257325.2,NM_001257319.2,NM_001257323.2,NM_001257321.2,NM_001257326.2,NM_001257320.2,NM_145689.2,NR_047512.2 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|-|-|-|-|-|- p.Arg483His,p.Arg248His,p.Arg263His,p.Arg261His,p.Arg224His,p.Arg224His,p.Arg224His,p.Arg481His,.|-|-|-|-|-|-|-|- c.1448G>A,c.743G>A,c.788G>A,c.782G>A,c.671G>A,c.671G>A,c.671G>A,c.1442G>A,n.1589G>A|-|-|-|-|-|-|-|- 9/14,8/13,8/13,8/13,9/14,8/13,8/13,9/14,9/14|-|-|-|-|-|-|-|- False True no no rs765361536 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . . 23.8 1.0,0.669,0.837,0.291 3.24 29,29,29,29,29,29,29,29,. 1.621 0.929 . . .
chr11:8117179 G/A chr11:g.8117179G>A . GT=0/1;AD=54:76;AB=0.58 GT=0/1;AD=35:47;AB=0.57 GT=0/0;AD=41:0;AB=0.00 TUB NM_003320.4,NM_177972.2 missense_variant,missense_variant|- p.Gly233Arg,p.Gly178Arg|- c.697G>A,c.532G>A|- 6/13,5/12|- False True no no rs779206090 0 0 1 . 0.0000 0.00000 0.00000 0.00000 2 0 ?Retinal_dystrophy_and_obesity,_616188_(3),_Autosomal_recessive AR . . . . . 22.1 0.032,0.032,0.043 2.0 125,125 0.470 0.002 . . .
chr11:8718154 C/T chr11:g.8718154C>T . GT=0/1;AD=72:74;AB=0.51 GT=0/1;AD=32:39;AB=0.55 GT=0/0;AD=49:0;AB=0.00 ST5 NM_005418.3,NM_213618.1,NM_139157.2 missense_variant,missense_variant,missense_variant|-|- p.Val1038Ile,p.Val1038Ile,p.Val618Ile|-|- c.3112G>A,c.3112G>A,c.1852G>A|-|- 21/23,18/20,17/19|-|- False True no no rs144416409 2 10 21 1 0.0002 0.00008 0.00009 0.00003 2 0 . . . . . . COSM1227675 16.80 0.027,0.112,0.104 1.36 29,29,29 1.950 1.000 . . .
chr11:9096036 C/T chr11:g.9096036C>T . GT=0/1;AD=54:50;AB=0.48 GT=0/0;AD=56:0;AB=0.00 GT=0/1;AD=24:25;AB=0.51 SCUBE2 NM_020974.2,NM_001170690.1 missense_variant,missense_variant|- p.Arg170His,p.Arg170His|- c.509G>A,c.509G>A|- 4/22,4/18|- False True no no rs754677544 0 2 4 1 0.0000 0.00002 0.00002 0.00003 2 0 . . . . . . . 23.5 0.177,0.277,0.167 3.18 29,29 1.064 0.000 . . .
chr11:10585799 C/T chr11:g.10585799C>T . GT=0/1;AD=81:77;AB=0.49 GT=0/1;AD=47:49;AB=0.51 GT=0/0;AD=62:2;AB=0.03 LYVE1,MRVI1-AS1 NM_006691.3,NR_046374.1,NR_034093.2,NR_034094.2,NR_046375.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|- p.Gly70Ser,.,.,.,.|-|-|-|- c.208G>A,n.308-21775C>T,n.307+22710C>T,n.307+22710C>T,n.307+22710C>T|-|-|-|- 2/6,1/4,1/2,1/2,1/3|-|-|-|- False True no no rs79541972 71 193 282 144 0.0055 0.00159 0.00115 0.00465 2 0 . . . . . . . 14.26 0.0 4.48 56,.,.,.,. 0.182,. 0.000,. . . .
chr11:34482910 G/A chr11:g.34482910G>A . GT=0/1;AD=53:58;AB=0.52 GT=0/0;AD=82:0;AB=0.00 GT=0/1;AD=35:27;AB=0.43 CAT NM_001752.3 missense_variant p.Gly390Asp c.1169G>A 9/13 False True no no rs144648293 9 116 257 16 0.0007 0.00096 0.00104 0.00052 3 0 Acatalasemia,_614097_(3) . . DM "Acatalasaemia" . . 31 0.999 4.99 94 0.045 0.000 . . .
chr11:35463230 T/C chr11:g.35463230T>C . GT=0/1;AD=52:60;AB=0.54 GT=0/1;AD=40:32;AB=0.44 GT=0/0;AD=54:0;AB=0.00 PAMR1 NM_015430.3,NM_001001991.2,NM_001282676.1,NM_001282675.1 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Arg295Gly,p.Arg278Gly,p.Arg167Gly,p.Arg238Gly|-|-|- c.883A>G,c.832A>G,c.499A>G,c.712A>G|-|-|- 8/12,7/11,5/9,9/13|-|-|- False True no no rs544392330 0 2 7 . 0.0000 0.00002 0.00003 0.00000 2 0 . . . . . . . 16.75 0.005,0.0,0.0 2.05 125,125,125,125 -0.381 0.000 . . .
chr11:47611877 A/AGCGTCG chr11:g.47611877_47611878insGCGTCG . GT=0/1;AD=47:51;AB=0.52 GT=0/1;AD=13:26;AB=0.67 GT=0/0;AD=48:1;AB=0.02 C1QTNF4 NM_031909.2 disruptive_inframe_insertion p.Ala162_Asp163insAspAla c.480_485dupCGACGC 2/2 False True no no rs932030824 . . 0 1 0.0000 0.00000 0.00000 0.00004 2 0 . . . . . . . . . . . 1.642 0.163 . . .
chr11:58967229 A/T chr11:g.58967229A>T . GT=0/1;AD=71:49;AB=0.41 GT=0/1;AD=27:35;AB=0.56 GT=0/0;AD=53:0;AB=0.00 DTX4 NM_015177.1,NM_001300727.1 missense_variant,missense_variant|- p.Ser537Cys,p.Ser431Cys|- c.1609A>T,c.1291A>T|- 8/9,8/9|- False True no no rs369145598 1 2 17 . 0.0001 0.00007 0.00010 0.00000 2 0 . . . . . . . 16.87 0.999 5.45 112,112 1.861 0.565 . . .
chr11:61547022 C/T chr11:g.61547022C>T . GT=0/1;AD=49:52;AB=0.52 GT=0/1;AD=34:29;AB=0.46 GT=0/0;AD=37:0;AB=0.00 MYRF NM_001127392.2,NM_013279.3 missense_variant,missense_variant|- p.Pro743Ser,p.Pro734Ser|- c.2227C>T,c.2200C>T|- 16/27,16/26|- False True no no rs764008852 0 6 14 1 0.0000 0.00024 0.00010 0.00003 2 1 Encephalitis/encephalopathy,_mild,_with_reversible_myelin_vacuolization,_618113_(3),_Autosomal_dominant AD . . . . . 21.2 0.319,0.974,0.063 3.72 74,74 3.444 1.000 . . .
chr11:63978229 C/T chr11:g.63978229C>T . GT=0/1;AD=98:90;AB=0.48 GT=0/0;AD=135:0;AB=0.00 GT=0/1;AD=47:25;AB=0.35 FERMT3 NM_178443.2,NM_031471.5 missense_variant,missense_variant|- p.Arg103Trp,p.Arg103Trp|- c.307C>T,c.307C>T|- 3/15,3/15|- False True no no rs572874105 0 4 10 1 0.0000 0.00003 0.00004 0.00003 2 0 Leukocyte_adhesion_deficiency,_type_III,_612840_(3),_Autosomal_recessive AR . . . . COSM5950085|COSM5950086 26.4 0.998,0.877 1.63 101,101 1.704 0.003 . . .
chr11:64004662 T/TA chr11:g.64004662_64004663insA . GT=0/1;AD=59:44;AB=0.43 GT=0/0;AD=60:2;AB=0.03 GT=0/1;AD=28:13;AB=0.32 VEGFB NM_003377.4,NM_001243733.1 frameshift_variant,frameshift_variant|- p.Asp130fs,p.Asp130fs|- c.386dupA,c.386dupA|- 5/7,5/7|- True True no no rs773485507 . . . 1 0.0000 0.00000 0.00000 0.00003 2 0 . . . . . . COSM4334224|COSM2163148 . . . .,. -0.684 0.000 . . .
chr11:64693258 G/C chr11:g.64693258G>C . GT=0/1;AD=70:9;AB=0.11 GT=0/0;AD=48:17;AB=0.26 GT=0/0;AD=21:6;AB=0.22 PPP2R5B NM_006244.3 missense_variant p.Gly18Arg c.52G>C 2/14 False True no no rs1369331128 . . 143 1 0.0000 0.00000 0.00091 0.00005 3 0 . . . . . . COSM6390146 23.7 0.0 3.46 125 2.570 0.985 . . .
chr11:65305309 G/T chr11:g.65305309G>T . GT=0/1;AD=49:71;AB=0.59 GT=0/0;AD=74:1;AB=0.01 GT=0/1;AD=22:31;AB=0.58 SCYL1 NM_020680.3,NM_001048218.1 missense_variant,missense_variant|- p.Gln663His,p.Gln646His|- c.1989G>T,c.1938G>T|- 15/18,15/18|- False True no no rs56076708 46 124 570 90 0.0037 0.00509 0.00318 0.00291 2 2 Spinocerebellar_ataxia,_autosomal_recessive_21,_616719_(3),_Autosomal_recessive AR . . . . . 13.33,13.33 0.0,0.0,0.001,0.0,0.0,. 4.3,4.3 24,24 1.446 0.000 . . .
chr11:65686479 GGCC/GGCCGCCGCC,G chr11:g.65686480_65686482delGCC,chr11:g.65686480_65686482delGCC Multiallelic GT=0/1;AD=27:28:3;AB=0.48:0.05 GT=0/1;AD=18:26:0;AB=0.59:0.00 GT=0/0;AD=44:0:0;AB=0.00:0.00 C11orf68 NM_001135635.1,NM_031450.3 conservative_inframe_insertion,conservative_inframe_insertion|-|-|- p.Ala6_Ala7dup,p.Ala6_Ala7dup|-|-|- c.15_20dupGGCGGC,c.15_20dupGGCGGC|-|-|- 1/2,1/2|-|-|- False True no no rs748792467 .,0 .,0 0,5 .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.01033 0.00000:0.00000 4:1 0:1 . . . . . . . . . . .,.,.,. 1.282 0.213 . . .
chr11:66083816 G/A chr11:g.66083816G>A . GT=0/1;AD=79:86;AB=0.52 GT=0/0;AD=125:1;AB=0.01 GT=0/1;AD=27:30;AB=0.53 CD248 NM_020404.2 missense_variant p.Pro228Leu c.683C>T 1/1 False True no no rs149949198 34 230 501 57 0.0026 0.00197 0.00207 0.00184 2 1 . . . . . . . 18.95 0.999 4.17 98 1.380 0.243 . . .
chr11:66258814 C/T chr11:g.66258814C>T . GT=0/1;AD=60:63;AB=0.51 GT=0/0;AD=76:0;AB=0.00 GT=0/1;AD=36:19;AB=0.34 DPP3 NM_005700.4,NM_001256670.1,NM_130443.3 missense_variant,missense_variant,missense_variant|-|- p.Pro253Leu,p.Pro223Leu,p.Pro253Leu|-|- c.758C>T,c.668C>T,c.758C>T|-|- 7/18,6/17,7/18|-|- False True no no rs142252193 5 14 39 4 0.0004 0.00012 0.00016 0.00013 2 0 . . . . . . . 17.98 0.509,0.216 4.43 98,98,98 1.261 0.000 . . .
chr11:66290983 T/C chr11:g.66290983T>C . GT=0/1;AD=40:52;AB=0.56 GT=0/0;AD=60:0;AB=0.00 GT=0/1;AD=18:18;AB=0.50 BBS1 NM_024649.4 missense_variant p.Ile296Thr c.887T>C 10/17 False True no no rs145094101 3 11 23 5 0.0002 0.00009 0.00009 0.00016 2 0 Bardet-Biedl_syndrome_1,_209900_(3),_Autosomal_recessive,_Digenic_recessive AR,DR . . . Uncertain_significance . 19.95 0.372,0.044,0.009,0.018 5.32 89 0.220 0.000 . . .
chr11:67205903 C/T chr11:g.67205903C>T . GT=0/1;AD=82:88;AB=0.52 GT=0/1;AD=49:61;AB=0.56 GT=0/0;AD=75:0;AB=0.00 CORO1B NM_001018070.2,NM_020441.2 missense_variant,missense_variant|- p.Asp472Asn,p.Asp472Asn|- c.1414G>A,c.1414G>A|- 12/12,11/11|- False True no no rs147206539 12 46 106 7 0.0009 0.00039 0.00044 0.00023 2 0 . . . . . . . 19.78 0.004 4.81 23,23 0.993 0.000 . . .
chr11:71189477 C/T chr11:g.71189477C>T . GT=0/1;AD=52:68;AB=0.57 GT=0/1;AD=41:50;AB=0.55 GT=0/0;AD=58:0;AB=0.00 NADSYN1 NM_018161.4 missense_variant p.Arg279Trp c.835C>T 10/21 False True no no rs147929525 18 85 173 30 0.0014 0.00104 0.00073 0.00097 2 1 . . . . . . . 22.3 0.398,0.435 -5.57 101 0.810 0.000 . . .
chr11:73686651 G/A chr11:g.73686651G>A . GT=0/1;AD=75:43;AB=0.36 GT=0/0;AD=81:0;AB=0.00 GT=0/0;AD=50:0;AB=0.00 UCP2 NM_003355.2 missense_variant p.Pro234Ser c.700C>T 7/8 False True yes no . . . . . 0.0000 0.00000 0.00000 0.00000 1 0 {Obesity,_susceptibility_to,_BMIQ4},_607447_(3) . . . . . . 30 1.0 5.95 74 0.003 0.000 . . .
chr11:76922181 GCTCTGT/G chr11:g.76922182_76922187delCTCTGT . GT=0/1;AD=38:35;AB=0.48 GT=0/1;AD=17:22;AB=0.56 GT=0/0;AD=40:0;AB=0.00 MYO7A NM_000260.3,NM_001127180.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.6052-10_6052-5delTCTCTG,c.5938-10_5938-5delTCTCTG|- 44/48,44/48|- False True no no rs768569493 0 1 1 . 0.0000 0.00006 0.00001 0.00000 2 0 Deafness,_autosomal_dominant_11,_601317_(3),_Autosomal_dominant|Deafness,_autosomal_recessive_2,_600060_(3),_Autosomal_recessive|Usher_syndrome,_type_1B,_276900_(3),_Autosomal_recessive AD|AR|AR . . . . . . . . .,. 1.433 0.000 . . .
chr11:86666063 C/A chr11:g.86666063C>A . GT=0/1;AD=98:69;AB=0.41 GT=0/1;AD=56:36;AB=0.39 GT=0/0;AD=63:0;AB=0.00 FZD4 NM_012193.3 missense_variant p.Gly22Val c.65G>T 1/2 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Exudative_vitreoretinopathy_1,_133780_(3),_Autosomal_dominant|Retinopathy_of_prematurity,_133780_(3),_Autosomal_dominant AD|AD . . . . . 17.04 0.949 2.13 109 0.798 0.994 . . .
chr11:92714765 G/A chr11:g.92714765G>A . GT=0/1;AD=84:92;AB=0.52 GT=0/1;AD=37:51;AB=0.58 GT=0/0;AD=63:0;AB=0.00 MTNR1B NM_005959.3 missense_variant p.Gly126Ser c.376G>A 2/2 False True no no rs370131617 1 2 3 2 0.0001 0.00002 0.00001 0.00006 2 0 {Diabetes_mellitus,_type_2,_susceptibility_to},_125853_(3),_Autosomal_dominant AD . . . . COSM1357845 23.2 0.919 0.962 56 -0.351 0.001 . . .
chr11:108170504 A/G chr11:g.108170504A>G . GT=0/1;AD=49:50;AB=0.51 GT=0/1;AD=36:45;AB=0.56 GT=0/0;AD=60:0;AB=0.00 ATM NM_000051.3 missense_variant p.His1690Arg c.5069A>G 34/63 False True no no rs863224574 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Ataxia-telangiectasia,_208900_(3),_Autosomal_recessive|{Breast_cancer,_susceptibility_to},_114480_(3),_Autosomal_dominant,_Somatic_mutation|Lymphoma,_B-cell_non-Hodgkin,_somatic_(3)|Lymphoma,_mantle_cell,_somatic_(3)|T-cell_prolymphocytic_leukemia,_somatic_(3) AR|AD,SMu|.|.|. . . . Uncertain_significance . 18.54 0.036 4.02 29 1.369 0.000 . . .
chr11:111784476 C/G chr11:g.111784476C>G . GT=0/1;AD=86:81;AB=0.48 GT=0/0;AD=99:0;AB=0.00 GT=0/1;AD=38:32;AB=0.46 HSPB2,HSPB2-C11orf52 NM_001541.3,NR_037651.1 missense_variant,intron_variant|- p.Leu136Val,.|- c.406C>G,n.188+829C>G|- 2/2,1/4|- False True no no rs782718651 0 2 3 . 0.0000 0.00002 0.00001 0.00000 2 0 . . . . . . . 17.26 1.0 5.22 32,. 0.564,. 0.000,. . . .
chr11:113934229 C/G chr11:g.113934229C>G . GT=0/1;AD=78:88;AB=0.53 GT=0/0;AD=101:0;AB=0.00 GT=0/1;AD=44:36;AB=0.45 ZBTB16 NM_001018011.1,NM_006006.4 missense_variant,missense_variant|- p.His69Gln,p.His69Gln|- c.207C>G,c.207C>G|- 2/7,2/7|- False True no no rs201372671 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 Leukemia,_acute_promyelocytic,_PL2F/RARA_type_(3)|Skeletal_defects,_genital_hypoplasia,_and_mental_retardation,_612447_(3),_Autosomal_recessive .|AR . . . . . 21.5 0.008,0.008 5.32 24,24 2.546 0.999 . . .
chr11:117089765 C/T chr11:g.117089765C>T . GT=0/1;AD=48:26;AB=0.35 GT=0/1;AD=17:20;AB=0.54 GT=0/0;AD=34:0;AB=0.00 PCSK7 NM_004716.3 splice_region_variant&intron_variant . c.1431+8G>A 11/16 False True no no rs79764478 17 80 158 31 0.0013 0.00075 0.00066 0.00100 2 0 . . . . . . . . . . . 1.508 0.004 . . .
chr11:117261548 G/C chr11:g.117261548G>C . GT=0/1;AD=51:52;AB=0.51 GT=0/0;AD=82:0;AB=0.00 GT=0/1;AD=36:34;AB=0.49 CEP164 NM_014956.4,NM_001271933.1 missense_variant,missense_variant|- p.Glu664Gln,p.Glu667Gln|- c.1990G>C,c.1999G>C|- 16/33,15/32|- False True no no rs769232987 0 4 4 1 0.0000 0.00003 0.00002 0.00003 2 0 Nephronophthisis_15,_614845_(3),_Autosomal_recessive AR . . . . . 25.6 0.997,0.996,0.982,0.998 4.31 29,29 0.390 0.000 . . .
chr11:120310856 G/A chr11:g.120310856G>A . GT=0/1;AD=48:45;AB=0.48 GT=0/1;AD=40:25;AB=0.39 GT=0/0;AD=53:0;AB=0.00 ARHGEF12 NM_015313.2,NM_001198665.1,NM_001301084.1 missense_variant,missense_variant,missense_variant|-|- p.Gly340Arg,p.Gly321Arg,p.Gly237Arg|-|- c.1018G>A,c.961G>A,c.709G>A|-|- 13/41,12/40,13/41|-|- False True no no rs769876465 0 2 5 . 0.0000 0.00002 0.00002 0.00000 2 0 . . . . . . COSM3444258 23.6 0.952,0.783,0.677 5.07 125,125,125 3.480 1.000 . . .
chr11:123493266 C/G chr11:g.123493266C>G . GT=0/1;AD=68:60;AB=0.47 GT=0/1;AD=40:37;AB=0.48 GT=0/0;AD=51:0;AB=0.00 GRAMD1B NM_001286563.1,NM_020716.2,NM_001286564.1 missense_variant,missense_variant,missense_variant|-|- p.Thr734Arg,p.Thr727Arg,p.Thr687Arg|-|- c.2201C>G,c.2180C>G,c.2060C>G|-|- 21/21,20/20,20/20|-|- False True no no rs368223750 1 23 100 12 0.0001 0.00098 0.00062 0.00039 2 1 . . . . . . COSM1973787|COSM1973788 21.2 0.355,0.028,0.192 3.43 71,71,71 3.469 1.000 . . .
chr11:125708294 G/A chr11:g.125708294G>A . GT=0/1;AD=63:66;AB=0.51 GT=0/1;AD=49:27;AB=0.35 GT=0/0;AD=48:0;AB=0.00 PATE4 NM_001144874.1 missense_variant p.Cys90Tyr c.269G>A 3/3 False True no no rs199545061 5 9 110 21 0.0011 0.00047 0.00075 0.00068 2 0 . . . . . . COSM4985880|COSM4985881 0.742 0.325 0.124 194 0.274 0.001 . . .
chr12:333237 C/T chr12:g.333237C>T . GT=0/1;AD=65:68;AB=0.51 GT=0/0;AD=81:0;AB=0.00 GT=0/1;AD=25:32;AB=0.56 SLC6A13 NM_016615.4,NM_001190997.2 missense_variant,missense_variant|- p.Arg411His,p.Arg319His|- c.1232G>A,c.956G>A|- 11/15,9/13|- False True no no rs772374178 0 2 7 3 0.0000 0.00002 0.00003 0.00010 2 0 . . . . . . COSM4041465 27.4 0.897,0.778,0.778 4.6 29,29 0.024 0.000 . . .
chr12:1748958 C/T chr12:g.1748958C>T . GT=0/1;AD=92:109;AB=0.54 GT=0/0;AD=123:0;AB=0.00 GT=0/1;AD=51:35;AB=0.41 WNT5B NM_030775.2,NM_032642.2 missense_variant,missense_variant|- p.Thr146Met,p.Thr146Met|- c.437C>T,c.437C>T|- 4/5,4/5|- False True no no rs375865925 0 4 10 1 0.0000 0.00004 0.00004 0.00003 2 0 . . . . . . COSM3935855 23.9 0.051 4.43 81,81 1.799 0.576 . . .
chr12:7254671 C/T chr12:g.7254671C>T . GT=0/1;AD=52:51;AB=0.49 GT=0/0;AD=83:0;AB=0.00 GT=0/1;AD=28:20;AB=0.42 C1RL NM_016546.3,NM_001297640.1,NM_001297642.1,NM_001297643.1 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Gly105Ser,p.Gly105Ser,p.Gly105Ser,p.Gly105Ser|-|-|- c.313G>A,c.313G>A,c.313G>A,c.313G>A|-|-|- 3/6,3/5,3/6,3/3|-|-|- False True no no rs141143315 13 119 260 18 0.0010 0.00099 0.00106 0.00058 2 0 . . . . . . . 19.82,19.82 1.0,1.0,1.0,. 2.87,2.87 56,56,56,56 0.985 0.000 . . .
chr12:8612294 G/C chr12:g.8612294G>C . GT=0/1;AD=58:64;AB=0.53 GT=0/1;AD=43:36;AB=0.46 GT=0/0;AD=57:0;AB=0.00 CLEC6A NM_001007033.1,NM_001317999.1 missense_variant&splice_region_variant,missense_variant&splice_region_variant|- p.Ala75Pro,p.Ala45Pro|- c.223G>C,c.133G>C|- 3/6,2/5|- False True no no rs150852294 36 157 308 77 0.0028 0.00129 0.00125 0.00249 2 0 . . . . . . . 10.37 0.875 2.63 27,27 -0.049 0.000 . . .
chr12:8800767 G/A chr12:g.8800767G>A . GT=0/1;AD=67:49;AB=0.42 GT=0/1;AD=31:40;AB=0.56 GT=0/0;AD=60:0;AB=0.00 MFAP5 NM_003480.3,NM_001297709.1,NM_001297710.1,NM_001297711.1,NM_001297712.1,NR_123733.1,NR_123734.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|-|- p.Pro148Ser,p.Pro138Ser,p.Pro126Ser,p.Pro123Ser,p.Pro84Ser,.,.|-|-|-|-|-|- c.442C>T,c.412C>T,c.376C>T,c.367C>T,c.250C>T,n.775C>T,n.745C>T|-|-|-|-|-|- 10/10,9/9,8/8,8/8,7/7,11/11,10/10|-|-|-|-|-|- False True no no rs148770543 2 50 91 8 0.0002 0.00041 0.00037 0.00026 4 0 Aortic_aneurysm,_familial_thoracic_9,_616166_(3),_Autosomal_dominant AD . . . . . 26.8 1.0,1.0,1.0 4.79 74,74,74,74,74,.,. 0.309 0.005 . . .
chr12:20893180 A/G chr12:g.20893180A>G . GT=0/1;AD=69:66;AB=0.49 GT=0/1;AD=51:45;AB=0.47 GT=0/0;AD=69:0;AB=0.00 SLCO1C1 NM_001145946.1,NM_001145945.1,NM_001145944.1,NM_017435.4 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Ile537Met,p.Ile488Met,p.Ile419Met,p.Ile537Met|-|-|- c.1611A>G,c.1464A>G,c.1257A>G,c.1611A>G|-|-|- 13/16,12/15,10/13,12/15|-|-|- False True no no rs867227703 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 13.87 0.002,0.001,0.001,0.003 0.535 10,10,10,10 -0.427 0.000 . . .
chr12:47630057 G/A chr12:g.47630057G>A . GT=0/1;AD=68:72;AB=0.51 GT=0/0;AD=94:0;AB=0.00 GT=0/1;AD=22:31;AB=0.58 PCED1B NM_001281429.1,NM_138371.2 missense_variant,missense_variant|- p.Arg404His,p.Arg404His|- c.1211G>A,c.1211G>A|- 3/3,4/4|- False True no no rs139764765 14 97 156 16 0.0011 0.00080 0.00063 0.00052 2 0 . . . . . . . 0.016,0.016 0.0,. -7.77,-7.77 29,29 0.890 . . . .
chr12:48107123 C/T chr12:g.48107123C>T . GT=0/1;AD=64:59;AB=0.48 GT=0/1;AD=33:36;AB=0.52 GT=0/0;AD=48:0;AB=0.00 ENDOU NM_001172439.1,NM_001172440.1,NM_006025.3 stop_gained,stop_gained,stop_gained|-|- p.Trp267*,p.Trp204*,p.Trp226*|-|- c.800G>A,c.611G>A,c.677G>A|-|- 7/10,5/8,6/9|-|- True True no no rs145676650 4 10 36 3 0.0003 0.00008 0.00015 0.00010 2 0 . . . . . . . 22.0 . 5.64 .,.,. 0.634 0.000 . . .
chr12:49726930 G/T chr12:g.49726930G>T . GT=0/1;AD=117:111;AB=0.49 GT=0/0;AD=125:0;AB=0.00 GT=0/1;AD=36:52;AB=0.59 C1QL4 NM_001008223.1 missense_variant p.Asp208Glu c.624C>A 2/2 False True no no rs143197428 2 24 66 6 0.0002 0.00020 0.00027 0.00019 2 0 . . . . . . . 15.86 1.0 -5.32 45 0.919 0.444 . . .
chr12:51236767 G/T chr12:g.51236767G>T . GT=0/1;AD=40:40;AB=0.50 GT=0/1;AD=22:23;AB=0.51 GT=0/0;AD=58:0;AB=0.00 TMPRSS12 NM_182559.2 missense_variant p.Ser7Ile c.20G>T 1/5 False True no no rs373083956 1 5 26 1 0.0001 0.00010 0.00012 0.00003 2 0 . . . . . . . 7.734 0.983,0.994 3.44 142 0.040 0.001 . . .
chr12:52215363 G/A chr12:g.52215363G>A . GT=0/1;AD=91:86;AB=0.49 GT=0/1;AD=66:44;AB=0.40 GT=0/0;AD=74:0;AB=0.00 FIGNL2 NM_001013690.4 missense_variant p.Arg279Cys c.835C>T 2/2 False True no no rs1195102260 . . 1 . 0.0000 0.00000 0.00001 0.00000 2 0 . . . . . . . . . . 180 . . . . .
chr12:56648445 G/A chr12:g.56648445G>A . GT=0/1;AD=80:84;AB=0.51 GT=0/1;AD=53:41;AB=0.44 GT=0/0;AD=75:0;AB=0.00 ANKRD52 NM_173595.3 missense_variant p.Arg204Cys c.610C>T 7/28 False True no no rs759571081 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . COSM6282444 34 0.997 4.85 180 4.624 1.000 . . .
chr12:66935707 C/T chr12:g.66935707C>T . GT=0/1;AD=74:58;AB=0.44 GT=0/1;AD=42:42;AB=0.50 GT=0/0;AD=38:0;AB=0.00 GRIP1 NM_021150.3,NM_001178074.1 missense_variant,missense_variant|- p.Val54Ile,p.Val54Ile|- c.160G>A,c.160G>A|- 3/24,3/23|- False True no no rs199768740 9 149 303 15 0.0007 0.00123 0.00123 0.00048 2 1 Fraser_syndrome_3,_617667_(3),_Autosomal_recessive AR . DM? "Autism" Likely_pathogenic COSM4962084|COSM4962085 23.3 0.977,1.0 5.36 29,29 1.776 0.583 . . .
chr12:72028607 TA/TAA,T chr12:g.72028608delA,chr12:g.72028608delA Multiallelic GT=0/1;AD=14:4:0;AB=0.22:0.00 GT=0/2;AD=15:0:7;AB=0.00:0.32 GT=0/2;AD=10:0:6;AB=0.00:0.38 ZFC3H1 NM_144982.4 splice_region_variant&intron_variant|splice_region_variant&intron_variant .|. c.2239-3delT|c.2239-4dupT 10/34|10/34 False True yes no rs34399921 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 3:49 0:84 . . . . . . .,COSM1606606 . . . .,. 2.366 1.000 . . .
chr12:72067966 A/AT,ATTTTT chr12:g.72067966_72067967insT,chr12:g.72067966_72067967insTTTTT Multiallelic GT=1/2;AD=3:10:9;AB=0.46:0.41 GT=0/1;AD=12:9:0;AB=0.43:0.00 GT=0/0;AD=9:3:3;AB=0.20:0.20 THAP2 NM_031435.3 splice_region_variant&intron_variant|splice_region_variant&intron_variant .|. c.72-4dupT|c.72-8_72-4dupTTTTT 1/2|1/2 False True no no rs5799053 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 39:1 53:0 . . . . . . . . . . .,. 0.261 0.000 . . .
chr12:75900396 CAA/CA,CAAA,CAAAAAAAAAA,C,CAAAAAAAAAAA chr12:g.75900397_75900398delAA,chr12:g.75900397_75900398delAA,chr12:g.75900397_75900398delAA,chr12:g.75900397_75900398delAA,chr12:g.75900397_75900398delAA Multiallelic GT=2/5;AD=1:0:4:0:0:4;AB=0.00:0.44:0.00:0.00:0.44 GT=0/4;AD=2:0:0:0:3:0;AB=0.00:0.00:0.00:0.60:0.00 GT=0/0;AD=7:9:9:9:9:9;AB=0.17:0.17:0.17:0.17:0.17 KRR1 NM_007043.6 -|intron_variant|-|intron_variant|intron_variant -|.|-|.|. -|c.394-9delT|-|c.394-17_394-10dupTTTTTTTT|c.394-18_394-10dupTTTTTTTTT -|3/9|-|3/9|3/9 False False no no rs768590124 .,.,.,.,. .,.,.,.,. .,.,.,.,. .,.,.,.,. 0.0000:0.0000:0.0000:0.0000:0.0000 0.00000:0.00000:0.00000:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000:0.00000 28:10:1:6:2 35:8:0:13:0 . . . . . . .,.,.,COSM7309447,. . . . .,.,.,.,. 0.547 0.018 . . .
chr12:98927192 T/C chr12:g.98927192T>C . GT=0/1;AD=49:40;AB=0.45 GT=0/1;AD=29:35;AB=0.55 GT=0/0;AD=40:0;AB=0.00 TMPO NM_003276.2,NM_001032283.2,NM_001032284.2,NM_001307975.1 missense_variant,intron_variant,intron_variant,intron_variant|-|-|- p.Val386Ala,.,.,.|-|-|- c.1157T>C,c.565+1576T>C,c.565+1576T>C,c.565+1576T>C|-|-|- 4/4,3/8,3/5,3/7|-|-|- False True no no rs747232440 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . . 24.2 0.005 2.92 64,.,.,. -0.543 0.000 . . .
chr12:109694014 C/T chr12:g.109694014C>T . GT=0/1;AD=46:44;AB=0.49 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=20:15;AB=0.43 ACACB NM_001093.3 missense_variant p.Ala2079Val c.6236C>T 44/52 False True no no rs763546332 0 3 5 2 0.0000 0.00002 0.00002 0.00006 2 0 . . . . . . . 34 1.0 5.09 64 1.749 0.000 . . .
chr12:113549959 C/T chr12:g.113549959C>T . GT=0/1;AD=86:77;AB=0.47 GT=0/0;AD=105:1;AB=0.01 GT=0/1;AD=36:40;AB=0.53 RASAL1 NM_001193520.1,NM_001301202.1,NM_001193521.1,NM_004658.2 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Ala436Thr,p.Ala436Thr,p.Ala436Thr,p.Ala436Thr|-|-|- c.1306G>A,c.1306G>A,c.1306G>A,c.1306G>A|-|-|- 14/22,13/21,13/21,14/22|-|-|- False True no no rs1049091761 . . 2 . 0.0000 0.00000 0.00012 0.00000 2 0 . . . . . . COSM1223194 22.5 0.056,0.03,0.046,0.121,0.012,0.015,0.046 3.44 58,58,58,58 0.739 0.000 . . .
chr12:117348793 G/C chr12:g.117348793G>C . GT=0/1;AD=21:24;AB=0.53 GT=0/0;AD=29:0;AB=0.00 GT=0/1;AD=9:15;AB=0.62 FBXW8 NM_153348.2,NM_012174.1 5_prime_UTR_premature_start_codon_gain_variant,5_prime_UTR_premature_start_codon_gain_variant|-|-|- .,.|-|-|- c.-50G>C,c.-50G>C|-|-|- 1/11,1/11|-|-|- False True no no rs572549228 0 6 12 26 0.0000 0.00175 0.00103 0.00084 2 0 . . . . . . . . . . .,.,.,. 0.049 0.000 . . .
chr12:122261237 A/C,AC chr12:g.122261237A>C,chr12:g.122261237_122261238insC Multiallelic GT=0/2;AD=86:18:27;AB=0.14:0.21 GT=0/0;AD=69:27:27;AB=0.22:0.22 GT=0/0;AD=45:16:16;AB=0.21:0.21 SETD1B NM_015048.1 -|synonymous_variant -|p.Pro1541Pro -|c.4623A>C -|12/17 False False no no rs763997493 .,0 .,9 91,234 19,1 0.0000:0.0000 0.00000:0.00000 0.00140:0.00361 0.00232:0.00012 3:5 0:0 . . . . . . COSM6287317|COSM6287318,. . . . .,. 4.943 1.000 . . .
chr12:123476320 G/A chr12:g.123476320G>A . GT=0/1;AD=73:101;AB=0.58 GT=0/0;AD=99:1;AB=0.01 GT=0/1;AD=39:38;AB=0.49 PITPNM2 NM_001300801.1,NM_020845.2 missense_variant,intron_variant|- p.Arg844Cys,.|- c.2530C>T,c.2404+726C>T|- 16/25,15/24|- False True no no rs537987158 0 51 50 16 0.0000 0.00056 0.00050 0.00052 2 0 . . . . . . . 21.8 0.987 4.29 180,. 4.336 1.000 . . .
chr12:125497128 G/A chr12:g.125497128G>A . GT=0/1;AD=47:44;AB=0.48 GT=0/1;AD=29:23;AB=0.44 GT=0/0;AD=45:0;AB=0.00 BRI3BP NM_080626.5 missense_variant p.Val88Met c.262G>A 2/3 False True no no rs139448345 2 12 44 3 0.0002 0.00010 0.00018 0.00010 2 0 . . . . . . . 1.869 0.028 -3.53 21 1.154 0.269 . . .
chr12:129299326 C/A chr12:g.129299326C>A . GT=0/1;AD=50:50;AB=0.50 GT=0/1;AD=38:32;AB=0.46 GT=0/0;AD=45:0;AB=0.00 SLC15A4 NM_145648.3 missense_variant p.Ser279Ile c.836G>T 2/8 False True no no rs35439692 37 104 149 57 0.0028 0.00086 0.00061 0.00184 2 0 . . . . . . . 11.57 0.014 0.0765 142 1.121 0.000 . . .
chr12:133146658 G/A chr12:g.133146658G>A . GT=0/1;AD=93:97;AB=0.51 GT=0/0;AD=131:0;AB=0.00 GT=0/1;AD=42:38;AB=0.47 FBRSL1 NM_001142641.1 missense_variant p.Gly280Ser c.838G>A 7/17 False True no no rs752450409 0 1 7 5 0.0000 0.00012 0.00008 0.00016 2 0 . . . . . . . 7.915 0.168 1.88 56 0.911 0.003 Imprinted_genes_predicted . .
chr13:21729292 G/GTTGCTGACATCTCGGATGTT,GTTGCTGACATCT,GTTGCTGA,GTTGCTGACATCTCGGATGTTCTGTC chr13:g.21729292_21729293insTTGCTGACATCTCGGATGTT,chr13:g.21729292_21729293insTTGCTGACATCT,chr13:g.21729292_21729293insTTGCTGA,chr13:g.21729292_21729293insTTGCTGACATCTCGGATGTTCTGTC Multiallelic GT=0/1;AD=117:26:0:0:0;AB=0.18:0.00:0.00:0.00 GT=0/0;AD=73:0:0:0:0;AB=0.00:0.00:0.00:0.00 GT=0/0;AD=55:0:0:0:0;AB=0.00:0.00:0.00:0.00 SKA3 NM_145061.5,NM_001166017.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|-|-|-|- .,.|-|-|-|-|-|-|- c.1239-4_1239-3insTCAGCAA,c.1120-4_1120-3insTCAGCAA|-|-|-|-|-|-|- 8/8,7/7|-|-|-|-|-|-|- False True yes yes rs760089135 0,0,0,0 10,56,81,63 20,1,2,47 1,0,0,5 0.0000:0.0000:0.0000:0.0000 0.00010:0.00054:0.00078:0.00061 0.00008:0.00000:0.00001:0.00020 0.00003:0.00000:0.00000:0.00016 2:2:0:0 2:0:1:2 . . . . . . . . . . .,.,.,.,.,.,.,. -0.008 0.000 . chr13:21729240:21750618:DUP .
chr13:21732267 A/ATGCTGTTCTTTGTAGATGGAAT,ATGCTGTTCT,ATGCTGTTCTTTGTAGATGGAATT chr13:g.21732267_21732268insTGCTGTTCTTTGTAGATGGAAT,chr13:g.21732267_21732268insTGCTGTTCT,chr13:g.21732267_21732268insTGCTGTTCTTTGTAGATGGAATT Multiallelic GT=0/3;AD=61:0:0:15;AB=0.00:0.00:0.20 GT=0/0;AD=47:0:0:0;AB=0.00:0.00:0.00 GT=0/3;AD=35:0:0:8;AB=0.00:0.00:0.19 SKA3 NM_145061.5,NM_001166017.1 -|-|splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- -|-|.,.|-|-|- -|-|c.916-4_916-3insAATTCCATCTACAAAGAACAGCA,c.916-4_916-3insAATTCCATCTACAAAGAACAGCA|-|-|- -|-|6/8,6/7|-|-|- False True no yes rs748913598 0,0,0 303,863,369 76,52,84 .,.,. 0.0000:0.0000:0.0000 0.00275:0.00783:0.00335 0.00032:0.00022:0.00035 0.00000:0.00000:0.00000 2:1:2 2:2:1 . . . . . . . . . . .,.,.,.,.,. -0.008 0.000 . chr13:21729240:21750618:DUP .
chr13:43872492 C/A chr13:g.43872492C>A . GT=0/1;AD=47:39;AB=0.45 GT=0/0;AD=70:11;AB=0.14 GT=0/1;AD=26:24;AB=0.48 ENOX1 NM_001127615.1,NM_001242863.1,NM_017993.3 missense_variant,missense_variant,missense_variant|-|- p.Gly479Val,p.Gly479Val,p.Gly479Val|-|- c.1436G>T,c.1436G>T,c.1436G>T|-|- 12/17,12/17,12/17|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 24.7 0.267 4.93 109,109,109 2.171 0.000 . . .
chr13:46541724 C/G chr13:g.46541724C>G . GT=0/1;AD=83:62;AB=0.43 GT=0/0;AD=101:0;AB=0.00 GT=0/1;AD=54:24;AB=0.31 ZC3H13 NM_015070.4 missense_variant p.Leu1412Phe c.4236G>C 15/17 False True no no rs146239696 2 35 64 1 0.0002 0.00029 0.00026 0.00003 2 0 . . . . . . . 17.97 0.002,0.003 2.72 22 1.949 1.000 . . .
chr13:53007886 GA/G chr13:g.53007887delA . GT=0/1;AD=55:8;AB=0.13 GT=0/0;AD=49:6;AB=0.11 GT=0/1;AD=24:3;AB=0.11 VPS36 NM_016075.3,NM_001282169.1,NM_001282168.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|- .,.,.|-|- c.442-4delT,c.268-4delT,c.415-4delT|-|- 5/13,5/13,5/13|-|- False True no no rs555586882;rs756726366 . . . 3 0.0000 0.00000 0.00000 0.00012 4 1 . . . . . . COSM1607158 . . . .,.,. 1.749 0.040 . . .
chr13:95727748 C/T chr13:g.95727748C>T . GT=0/1;AD=62:67;AB=0.52 GT=0/1;AD=47:40;AB=0.46 GT=0/0;AD=60:0;AB=0.00 ABCC4 NM_005845.4,NM_001301829.1 missense_variant,missense_variant|- p.Arg915Gln,p.Arg868Gln|- c.2744G>A,c.2603G>A|- 22/31,21/30|- False True no no rs775316511 . . 2 1 0.0000 0.00000 0.00001 0.00003 3 0 . . . . . . . 35 0.999,0.999 5.39 43,43 1.747 0.000 . . .
chr13:113741770 C/T chr13:g.113741770C>T . GT=0/1;AD=31:43;AB=0.58 GT=0/0;AD=47:0;AB=0.00 GT=0/1;AD=18:22;AB=0.55 MCF2L NM_001320815.1,NM_001112732.2,NM_001320816.1,NM_001320817.1,NM_024979.4 splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant|-|-|-|- p.Asn863Asn,p.Asn865Asn,p.Asn869Asn,p.Asn863Asn,p.Asn863Asn|-|-|-|- c.2589C>T,c.2595C>T,c.2607C>T,c.2589C>T,c.2589C>T|-|-|-|- 22/31,22/30,22/30,22/27,22/30|-|-|-|- False True no no rs150786675 44 369 740 72 0.0034 0.00460 0.00316 0.00233 2 1 . . . . . . COSM5033033|COSM5033032|COSM5033034|COSM5033031|COSM5033035 0.008,0.008 . -9.66,-9.66 .,.,.,.,. 1.939 0.000 . . .
chr14:19378348 C/T chr14:g.19378348C>T . GT=0/1;AD=79:11;AB=0.12 GT=0/0;AD=62:0;AB=0.00 GT=0/0;AD=50:5;AB=0.09 OR11H12 NM_001013354.1 missense_variant p.Ala252Val c.755C>T 1/1 False True no no rs200662012 . . 10 12 0.0000 0.00000 0.00014 0.00040 1 1 . . . . . . . 22.7 0.996 0.585 64 -4.154 . . . .
chr14:20181321 G/A chr14:g.20181321G>A . GT=0/1;AD=106:20;AB=0.16 GT=0/0;AD=67:0;AB=0.00 GT=0/1;AD=42:6;AB=0.12 OR11H2 NM_001197287.1 missense_variant p.Ala252Val c.755C>T 2/2 False True no no rs529867079 0 8 39 18 0.0000 0.00008 0.00017 0.00063 2 1 . . . . . . . . . . 64 . . . . .
chr14:23075365 AC/A chr14:g.23075366delC . GT=0/1;AD=68:36;AB=0.35 GT=0/0;AD=77:0;AB=0.00 GT=0/1;AD=19:28;AB=0.60 ABHD4 NM_022060.2 frameshift_variant p.Arg227fs c.679delC 5/7 True True no no rs565680365 15 92 172 17 0.0012 0.00088 0.00070 0.00055 2 0 . . . . . . . . . . . 0.745 0.000 . . .
chr14:23450907 C/G chr14:g.23450907C>G . GT=0/1;AD=100:104;AB=0.51 GT=0/1;AD=68:44;AB=0.39 GT=0/0;AD=97:0;AB=0.00 AJUBA NM_032876.5,NM_001289097.1 missense_variant,missense_variant|- p.Gly190Ala,p.Gly190Ala|- c.569G>C,c.569G>C|- 1/8,1/2|- False True no no rs1047027841 . . 4 2 0.0000 0.00000 0.00004 0.00006 2 0 . . . . . . . 10.58 0.0 2.71 60,60 2.427 0.817 . . .
chr14:23863383 C/T chr14:g.23863383C>T . GT=0/1;AD=113:106;AB=0.48 GT=0/1;AD=60:50;AB=0.46 GT=0/0;AD=91:0;AB=0.00 MYH6 NM_002471.3 missense_variant p.Arg860His c.2579G>A 21/39 False True no no rs115845031 75 202 326 148 0.0058 0.00166 0.00132 0.00478 2 0 Atrial_septal_defect_3,_614089_(3)|Cardiomyopathy,_dilated,_1EE,_613252_(3)|Cardiomyopathy,_hypertrophic,_14,_613251_(3),_Autosomal_dominant|{Sick_sinus_syndrome_3},_614090_(3) .|.|AD|. . . . Benign . 25.1 0.004 4.57 29 0.963 0.000 . . .
chr14:24522912 C/G chr14:g.24522912C>G . GT=0/1;AD=36:31;AB=0.46 GT=0/1;AD=18:19;AB=0.51 GT=0/0;AD=29:0;AB=0.00 CARMIL3 NM_138360.3 splice_region_variant&intron_variant . c.41-6C>G 1/39 False True no no rs142116505 33 172 367 45 0.0025 0.00150 0.00154 0.00145 2 0 . . . . . . . . . . . . . . . .
chr14:38092159 A/G chr14:g.38092159A>G . GT=0/1;AD=54:48;AB=0.47 GT=0/0;AD=69:0;AB=0.00 GT=0/1;AD=26:27;AB=0.51 TTC6 NM_001310135.1 missense_variant p.Lys313Arg c.938A>G 3/33 False True no no rs150824784 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 13.07 . -5.54 26 0.778 0.000 . . .
chr14:50605507 TA/T,TAA,TAAA chr14:g.50605508delA,chr14:g.50605508delA,chr14:g.50605508delA Multiallelic GT=0/3;AD=11:4:0:11;AB=0.15:0.00:0.42 GT=0/3;AD=5:2:0:3;AB=0.20:0.00:0.30 GT=0/0;AD=20:0:0:0;AB=0.00:0.00:0.00 SOS2 NM_006939.3 -|-|splice_region_variant&intron_variant -|-|. -|-|c.2786-8_2786-7dupTT -|-|17/22 False True no no rs762777753 .,.,. .,.,. .,.,. .,.,. 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 18:23:2 4:14:0 Noonan_syndrome_9,_616559_(3),_Autosomal_dominant AD . . . . . . . . .,.,. 2.681 1.000 . . .
chr14:58874191 G/A chr14:g.58874191G>A . GT=0/1;AD=37:46;AB=0.55 GT=0/1;AD=18:22;AB=0.55 GT=0/0;AD=28:0;AB=0.00 TOMM20L NM_207377.2 splice_region_variant&intron_variant . c.405+5G>A 4/4 False True no no rs750465345 0 8 28 . 0.0000 0.00007 0.00012 0.00000 2 0 . . . . . . . . . . . 0.837 0.000 . . .
chr14:59792768 A/G chr14:g.59792768A>G . GT=0/1;AD=67:77;AB=0.54 GT=0/1;AD=60:35;AB=0.37 GT=0/0;AD=63:0;AB=0.00 DAAM1 NM_014992.2,NM_001270520.1 missense_variant,missense_variant|- p.Ile383Val,p.Ile383Val|- c.1147A>G,c.1147A>G|- 9/25,10/25|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 18.32 0.0,0.0 5.53 29,29 1.991 0.999 . . .
chr14:59998590 C/G chr14:g.59998590C>G . GT=0/1;AD=65:32;AB=0.33 GT=0/1;AD=38:39;AB=0.51 GT=0/0;AD=63:0;AB=0.00 CCDC175 NM_001164399.1 missense_variant p.Lys554Asn c.1662G>C 14/20 False True no no rs891308278 . . 5 . 0.0000 0.00000 0.00004 0.00000 2 0 . . . . . . . 17.64 . -3.34 94 1.204 0.000 . . .
chr14:62567094 C/CT chr14:g.62567094_62567095insT . GT=0/1;AD=25:6;AB=0.19 GT=0/1;AD=20:3;AB=0.13 GT=0/0;AD=16:1;AB=0.06 SYT16 NM_031914.2 splice_region_variant&intron_variant . c.1625-8dupT 5/5 False True no no rs781383336 . . . . 0.0000 0.00000 0.00000 0.00000 4 0 . . . . . . . . . . . -0.020 0.000 . . .
chr14:64443258 CTTTT/CTTT,CTTTTT,CT,CTT,C chr14:g.64443259_64443262delTTTT,chr14:g.64443259_64443262delTTTT,chr14:g.64443259_64443262delTTTT,chr14:g.64443259_64443262delTTTT,chr14:g.64443259_64443262delTTTT Multiallelic GT=0/5;AD=5:0:0:0:0:4;AB=0.00:0.00:0.00:0.00:0.44 GT=0/0;AD=7:2:2:2:2:2;AB=0.12:0.12:0.12:0.12:0.12 GT=0/3;AD=1:0:0:2:0:0;AB=0.00:0.00:0.67:0.00:0.00 SYNE2 NM_182914.2,NM_015180.4 -|-|splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|-|- -|-|.,.|-|.,.|-|-|-|-|- -|-|c.1129-5_1129-4delTT,c.1129-5_1129-4delTT|-|c.1129-4dupT,c.1129-4dupT|-|-|-|-|- -|-|11/115,11/114|-|11/115,11/114|-|-|-|-|- False True no no rs772278584;rs115540047 NA,NA,NA,NA,0 24412,5411,7858,19133,360 38094,13236,12170,24196,607 .,.,.,.,. 0.0000:0.0000:0.0000:0.0000:0.0000 0.27156:0.06019:0.08741:0.21283:0.00400 0.25714:0.08934:0.08215:0.16333:0.00410 0.00000:0.00000:0.00000:0.00000:0.00000 11:1:10:8:3 36:7:21:43:1 Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant,_612999_(3),_Autosomal_dominant AD . . . .,.,.,.,Likely_benign . . . . .,.,.,.,.,.,.,.,.,. -0.877 0.000 . . .
chr14:69149627 CTTTTTTT/C,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTT chr14:g.69149628_69149634delTTTTTTT,chr14:g.69149628_69149634delTTTTTTT,chr14:g.69149628_69149634delTTTTTTT,chr14:g.69149628_69149634delTTTTTTT,chr14:g.69149628_69149634delTTTTTTT Multiallelic GT=0/3;AD=1:0:0:3:0:0;AB=0.00:0.00:0.75:0.00:0.00 GT=3/3;AD=0:0:0:1:0:0;AB=0.00:0.00:1.00:0.00:0.00 GT=0/0;AD=16:4:4:4:4:4;AB=0.11:0.11:0.11:0.11:0.11 RAD51B NM_001321818.1 -|-|splice_region_variant&intron_variant|-|- -|-|.|-|- -|-|c.1037-13_1037-7dupTTTTTTT|-|- -|-|10/10|-|- False True no no rs544661017;rs776485243 .,.,.,.,. .,.,.,.,. .,.,.,.,. 1931,.,.,.,. 0.0000:0.0000:0.0000:0.0000:0.0000 0.00000:0.00000:0.00000:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000:0.00000 0.14378:0.00000:0.00000:0.00000:0.00000 10:5:5:2:3 0:0:0:0:0 . . . . . . . . . . .,.,.,.,. 0.741 0.000 . . .
chr14:77275950 G/A chr14:g.77275950G>A . GT=0/1;AD=46:58;AB=0.56 GT=0/0;AD=52:1;AB=0.02 GT=0/1;AD=28:22;AB=0.44 ANGEL1 NM_015305.3 missense_variant p.Ala34Val c.101C>T 2/10 False True no no rs752001734 0 2 7 . 0.0000 0.00002 0.00003 0.00000 2 0 . . . . . . COSM1172230 27.2 1.0,1.0 5.35 64 1.021 0.000 . . .
chr14:100125935 C/A chr14:g.100125935C>A . GT=0/1;AD=71:75;AB=0.51 GT=0/0;AD=119:0;AB=0.00 GT=0/1;AD=34:50;AB=0.59 HHIPL1 NM_001127258.2,NM_001329411.1,NM_032425.5 missense_variant,missense_variant,missense_variant|-|- p.Pro406His,p.Pro341His,p.Pro406His|-|- c.1217C>A,c.1022C>A,c.1217C>A|-|- 4/9,5/9,4/8|-|- False True no no rs572979321 0 3 15 3 0.0000 0.00019 0.00010 0.00010 2 0 . . . . . . COSM4986545|COSM4986544 14.28 1.0,0.972 4.88 77,77,77 1.748 0.000 . . .
chr14:102551214 C/A chr14:g.102551214C>A . GT=0/1;AD=70:64;AB=0.48 GT=0/1;AD=46:39;AB=0.46 GT=0/0;AD=44:0;AB=0.00 HSP90AA1 NM_001017963.2,NM_005348.3 missense_variant,missense_variant|- p.Gly384Val,p.Gly262Val|- c.1151G>T,c.785G>T|- 6/12,5/11|- False True no no rs756186881 0 3 5 . 0.0000 0.00003 0.00002 0.00000 2 0 . . . . . . . 21.5 0.999,1.0,1.0 4.37 109,109 1.014 0.861 . . .
chr14:103958317 G/A chr14:g.103958317G>A . GT=0/1;AD=64:74;AB=0.54 GT=0/1;AD=40:36;AB=0.47 GT=0/0;AD=60:0;AB=0.00 MARK3 NM_001128918.2,NM_001128919.2,NM_001128920.2,NM_001128921.2,NM_002376.6 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Arg597Gln,p.Arg597Gln,p.Arg581Gln,p.Arg518Gln,p.Arg597Gln|-|-|-|- c.1790G>A,c.1790G>A,c.1742G>A,c.1553G>A,c.1790G>A|-|-|-|- 15/18,15/17,15/16,14/16,15/16|-|-|-|- False True no no rs185333227 0 85 261 3 0.0000 0.00071 0.00106 0.00010 2 0 . . . . . . . 26.8,26.8 .,0.956,0.999,0.358,0.999,0.425,0.842,0.99,0.879 4.97,4.97 43,43,43,43,43 1.562 0.000 . . .
chr14:105169564 G/A chr14:g.105169564G>A . GT=0/1;AD=58:58;AB=0.50 GT=0/0;AD=64:0;AB=0.00 GT=0/1;AD=27:23;AB=0.46 INF2 NM_022489.3,NM_032714.2,NM_001031714.3 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|- .,.,.|-|- c.507+7G>A,c.507+7G>A,c.507+7G>A|-|- 3/22,3/4,3/21|-|- False True no no rs201568246 19 111 219 21 0.0015 0.00093 0.00089 0.00068 2 0 Charcot-Marie-Tooth_disease,_dominant_intermediate_E,_614455_(3),_Autosomal_dominant|Glomerulosclerosis,_focal_segmental,_5,_613237_(3) AD|. . . . Benign/Likely_benign . . . . .,.,. 2.606 0.996 . . .
chr14:105415031 C/G chr14:g.105415031C>G . GT=0/1;AD=154:139;AB=0.47 GT=0/0;AD=168:1;AB=0.01 GT=0/1;AD=60:41;AB=0.41 AHNAK2 NM_138420.2 missense_variant p.Gly2253Arg c.6757G>C 7/7 False True no yes rs10145300 88 788 1574 175 0.0074 0.00654 0.00641 0.00574 4 1 . . . . . . COSM3753835 23.5 1.0 3.48 125 -11.283 0.003 . . .
chr14:105419807 G/T chr14:g.105419807G>T . GT=0/1;AD=97:106;AB=0.52 GT=0/0;AD=127:0;AB=0.00 GT=0/1;AD=48:47;AB=0.49 AHNAK2 NM_138420.2 missense_variant p.Gln661Lys c.1981C>A 7/7 False True no yes rs202107671 7 27 41 6 0.0006 0.00022 0.00017 0.00019 2 0 . . . . . . . 0.001 0.039 -4.65 53 -11.283 0.003 . . .
chr15:23052754 ACCTTTATTG/A chr15:g.23052755_23052763delCCTTTATTG . GT=0/1;AD=76:16;AB=0.17 GT=0/0;AD=55:1;AB=0.02 GT=0/0;AD=46:0;AB=0.00 NIPA1 NM_144599.4,NM_001142275.1 frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant,frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant|- p.Ser107fs,p.Ser32fs|- c.318-8_318delCAATAAAGG,c.93-8_93delCAATAAAGG|- 4/5,4/5|- True True yes yes rs1307637226 . . 0 0 0.0000 0.00000 0.00000 0.00000 5 0 Spastic_paraplegia_6,_autosomal_dominant,_600363_(3),_Autosomal_dominant AD . . . . . . . . .,. 2.006 0.032 . . .
chr15:23086230 C/T chr15:g.23086230C>T . GT=0/1;AD=23:26;AB=0.53 GT=0/1;AD=27:20;AB=0.43 GT=0/0;AD=27:0;AB=0.00 NIPA1 NM_144599.4,NM_001142275.1 splice_region_variant&intron_variant,intron_variant|- .,.|- c.178+4G>A,c.-48+590G>A|- 1/4,1/4|- False True no yes . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Spastic_paraplegia_6,_autosomal_dominant,_600363_(3),_Autosomal_dominant AD . . . . . . . . .,. 2.006 0.032 . . .
chr15:23572504 C/T chr15:g.23572504C>T . GT=0/1;AD=12:3;AB=0.20 GT=0/0;AD=90:3;AB=0.03 GT=0/1;AD=6:5;AB=0.46 GOLGA6L22 NM_001271664.2.2 missense_variant p.Glu504Lys c.1510G>A 8/12 False True no yes rs866856592 . . . 6 0.0000 0.00000 0.00000 0.00025 3 1 . . . . . . . . . . 56 . . . . .
chr15:23572666 C/A chr15:g.23572666C>A . GT=0/1;AD=15:3;AB=0.17 GT=0/0;AD=47:3;AB=0.06 GT=0/0;AD=11:1;AB=0.08 GOLGA6L22 NM_001271664.2.2 stop_gained p.Glu450* c.1348G>T 8/12 True True no yes rs1466502966 . . . 1 0.0000 0.00000 0.00000 0.00005 5 0 . . . . . . . . . . . . . . . .
chr15:25940058 C/T chr15:g.25940058C>T . GT=0/1;AD=78:63;AB=0.45 GT=0/1;AD=40:33;AB=0.45 GT=0/0;AD=66:0;AB=0.00 ATP10A NM_024490.3 missense_variant p.Arg999His c.2996G>A 14/21 False True no no rs77410940 41 397 898 73 0.0032 0.00328 0.00365 0.00236 2 1 . . . . . . COSM3420198 24.1 0.877 4.52 29 0.809 0.000 Imprinted_genes . .
chr15:30385099 C/T chr15:g.30385099C>T . GT=0/1;AD=50:9;AB=0.15 GT=0/1;AD=21:2;AB=0.09 GT=0/0;AD=15:2;AB=0.12 GOLGA8J NM_001282472.1 missense_variant p.Thr492Ile c.1475C>T 17/19 False True no no rs200523284 . . 61 98 0.0000 0.00000 0.00122 0.00415 3 1 . . . . . . . 8.629 . 1.48 89 -2.814 0.000 . . .
chr15:30927812 A/C chr15:g.30927812A>C . GT=1/1;AD=0:57;AB=1.00 GT=0/0;AD=29:0;AB=0.00 GT=0/1;AD=18:27;AB=0.60 ARHGAP11B NM_001039841.1 missense_variant p.Arg261Ser c.783A>C 6/7 False True no yes rs146907163 3 2 3 . 0.0002 0.00002 0.00001 0.00000 2 0 . . . . . . . 21.2 0.069 1.49 110 -0.215 0.000 . chr15:30919022:30927835:DEL .
chr15:33916136 G/A chr15:g.33916136G>A . GT=0/1;AD=76:61;AB=0.45 GT=0/1;AD=45:48;AB=0.52 GT=0/0;AD=72:0;AB=0.00 RYR3 NM_001036.4,NM_001243996.2 missense_variant,missense_variant|- p.Arg829His,p.Arg829His|- c.2486G>A,c.2486G>A|- 20/104,20/103|- False True no no rs199500216 12 141 283 29 0.0010 0.00117 0.00115 0.00094 2 0 . . . . . Likely_benign COSM960559 24.1 0.809,0.521 3.93 29,29 2.294 0.776 . . .
chr15:38228669 G/A chr15:g.38228669G>A . GT=0/1;AD=34:47;AB=0.58 GT=0/1;AD=23:16;AB=0.41 GT=0/0;AD=28:0;AB=0.00 TMCO5A NM_152453.3 splice_region_variant&intron_variant . c.140+5G>A 3/11 False True no no rs200052999 21 61 115 42 0.0016 0.00051 0.00048 0.00136 2 0 . . . . . . . . . . . 0.094 0.000 . . .
chr15:38776600 G/A chr15:g.38776600G>A . GT=0/1;AD=21:27;AB=0.56 GT=0/1;AD=15:19;AB=0.56 GT=0/0;AD=19:1;AB=0.05 FAM98B NM_173611.3 missense_variant p.Gly348Arg c.1042G>A 8/8 False True no no rs1369119001 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 16.05 0.015 1.71 125 0.412 0.008 . . .
chr15:40630758 A/G chr15:g.40630758A>G . GT=0/1;AD=53:64;AB=0.55 GT=0/0;AD=75:0;AB=0.00 GT=0/1;AD=23:19;AB=0.45 C15orf52 NM_207380.2 missense_variant p.Ile208Thr c.623T>C 5/11 False True no no rs1214083630 . . 1 1 0.0000 0.00000 0.00000 0.00003 2 0 . . . . . . . 6.926 0.03,0.002 -1.63 89 -0.585 0.000 . . .
chr15:40849439 A/G chr15:g.40849439A>G . GT=0/1;AD=62:61;AB=0.50 GT=0/1;AD=39:30;AB=0.43 GT=0/0;AD=55:0;AB=0.00 C15orf57 NM_001080791.2,NM_001289132.1,NM_001080792.2,NM_052849.3 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Val135Ala,p.Val126Ala,p.Val126Ala,p.Val126Ala|-|-|- c.404T>C,c.377T>C,c.377T>C,c.377T>C|-|-|- 3/4,3/4,3/4,3/4|-|-|- False True no no rs1435144346 . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.4 0.571,0.571,0.571 5.7 64,64,64,64 0.810 0.398 . . .
chr15:40914380 A/G chr15:g.40914380A>G . GT=0/1;AD=66:73;AB=0.53 GT=0/1;AD=49:47;AB=0.49 GT=0/0;AD=58:0;AB=0.00 KNL1 NM_170589.4,NM_144508.4 missense_variant,missense_variant|- p.Lys666Glu,p.Lys640Glu|- c.1996A>G,c.1918A>G|- 11/27,10/26|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Microcephaly_4,_primary,_autosomal_recessive,_604321_(3),_Autosomal_recessive AR . . . . . 9.661 0.969,0.969,0.982 3.44 56,56 . . . . .
chr15:45059669 G/A chr15:g.45059669G>A . GT=0/1;AD=116:89;AB=0.43 GT=0/0;AD=112:0;AB=0.00 GT=0/1;AD=31:43;AB=0.58 TRIM69 NM_182985.4,NM_001301144.1,NM_001301145.1,NM_001301146.1,NM_080745.4 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Arg401Gln,p.Arg197Gln,p.Arg180Gln,p.Arg164Gln,p.Arg242Gln|-|-|-|- c.1202G>A,c.590G>A,c.539G>A,c.491G>A,c.725G>A|-|-|-|- 7/7,6/6,6/6,5/5,6/6|-|-|-|- False True no no rs773433344 0 6 14 2 0.0000 0.00005 0.00006 0.00006 2 0 . . . . . . . 34 1.0,1.0,1.0 5.21 43,43,43,43,43 -0.306 0.000 . . .
chr15:55919290 A/G chr15:g.55919290A>G . GT=0/1;AD=69:80;AB=0.54 GT=0/0;AD=90:0;AB=0.00 GT=0/1;AD=20:26;AB=0.56 PRTG NM_173814.5 missense_variant p.Met948Thr c.2843T>C 17/20 False True no no rs779141948 0 2 5 . 0.0000 0.00002 0.00002 0.00000 2 0 . . . . . . . 23.5 0.998 5.17 81 0.453 0.000 . . .
chr15:59384832 G/A chr15:g.59384832G>A . GT=0/1;AD=44:49;AB=0.53 GT=0/1;AD=32:25;AB=0.44 GT=0/0;AD=44:0;AB=0.00 RNF111 NM_001270528.1,NM_001270529.1,NM_017610.7,NM_001270530.1 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Asp955Asn,p.Asp945Asn,p.Asp946Asn,p.Asp954Asn|-|-|- c.2863G>A,c.2833G>A,c.2836G>A,c.2860G>A|-|-|- 13/14,13/14,13/14,13/14|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 34 1.0,1.0,0.958 5.33 23,23,23,23 0.433 1.000 . . .
chr15:63942025 A/G chr15:g.63942025A>G . GT=0/1;AD=69:69;AB=0.50 GT=0/0;AD=85:0;AB=0.00 GT=0/1;AD=38:35;AB=0.48 HERC1 NM_003922.3 missense_variant p.Leu3549Ser c.10646T>C 54/78 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Macrocephaly,_dysmorphic_facies,_and_psychomotor_retardation,_617011_(3),_Autosomal_recessive AR . . . . . 21.6 0.0 4.73 145 5.450 1.000 . . .
chr15:65157251 C/G chr15:g.65157251C>G . GT=0/1;AD=76:97;AB=0.56 GT=0/0;AD=88:0;AB=0.00 GT=0/1;AD=38:32;AB=0.46 PLEKHO2 NM_025201.4,NM_001195059.1 missense_variant,missense_variant|- p.Pro213Ala,p.Pro163Ala|- c.637C>G,c.487C>G|- 6/6,5/5|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 8.360 0.037,0.022 2.79 27,27 0.238 0.106 . . .
chr15:67477061 G/A chr15:g.67477061G>A . GT=0/1;AD=42:49;AB=0.54 GT=0/1;AD=29:29;AB=0.50 GT=0/0;AD=40:0;AB=0.00 SMAD3 NM_005902.3,NM_001145102.1,NM_001145103.1,NM_001145104.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.872-4G>A,c.557-4G>A,c.740-4G>A,c.287-4G>A|-|-|- 6/8,6/8,6/8,4/6|-|-|- False True no no rs776577220 0 4 6 . 0.0000 0.00003 0.00002 0.00000 4 0 Loeys-Dietz_syndrome_3,_613795_(3),_Autosomal_dominant AD Marfan_syndrome,_Loeys-Dietz__syndromes,_and_familial_thoracic__aortic_aneurysms_and_dissections . . Conflicting_interpretations_of_pathogenicity . . . . .,.,.,. 3.470 0.839 . . .
chr15:77067396 T/C chr15:g.77067396T>C . GT=0/1;AD=83:87;AB=0.51 GT=0/0;AD=103:0;AB=0.00 GT=0/1;AD=42:43;AB=0.51 SCAPER NM_020843.2,NM_001145923.1 missense_variant,missense_variant|- p.Thr279Ala,p.Thr33Ala|- c.835A>G,c.97A>G|- 8/31,9/32|- False True no no rs142461932 12 214 409 36 0.0010 0.00178 0.00166 0.00116 4 0 Intellectual_developmental_disorder_and_retinitis_pigmentosa,_618195_(3),_Autosomal_recessive AR . . . . . 4.760 0.003,0.022,0.023 2.17 58,58 2.857 0.005 . . .
chr15:81188221 C/G chr15:g.81188221C>G . GT=0/1;AD=76:75;AB=0.50 GT=0/0;AD=87:0;AB=0.00 GT=0/1;AD=27:22;AB=0.45 CEMIP NM_001293298.1,NM_001293304.1,NM_018689.2 missense_variant,missense_variant,missense_variant|-|- p.Leu411Val,p.Leu411Val,p.Leu411Val|-|- c.1231C>G,c.1231C>G,c.1231C>G|-|- 12/30,12/30,11/29|-|- False True no no rs144349326 72 534 1160 120 0.0055 0.00440 0.00471 0.00387 2 2 . . . . . . . 22.3 0.893 5.2 32,32,32 . . . . .
chr15:84909539 G/A chr15:g.84909539G>A . GT=0/1;AD=35:9;AB=0.20 GT=0/1;AD=31:5;AB=0.14 GT=0/0;AD=14:0;AB=0.00 GOLGA6L4 NM_001267536.2 splice_region_variant&intron_variant . c.1428+5G>A 6/8 False True no no rs1453790776 . . 6 . 0.0000 0.00000 0.00012 0.00000 2 0 . . . . . . . . . . . -0.633 0.035 . . .
chr15:86807722 A/C chr15:g.86807722A>C . GT=0/1;AD=78:70;AB=0.47 GT=0/1;AD=48:47;AB=0.49 GT=0/0;AD=76:0;AB=0.00 AGBL1 NM_152336.3 missense_variant p.Gln440His c.1320A>C 11/25 False True no no rs202246257 4 12 25 1 0.0003 0.00010 0.00010 0.00003 2 0 Corneal_dystrophy,_Fuchs_endothelial,_8,_615523_(3),_Autosomal_dominant AD . . . . . 0.289 0.091,0.043,0.006 0.647 24 -2.190 0.000 . . .
chr16:231021 C/G chr16:g.231021C>G . GT=0/1;AD=93:85;AB=0.48 GT=0/0;AD=117:1;AB=0.01 GT=0/1;AD=33:41;AB=0.55 HBQ1 NM_005331.4 missense_variant p.Pro115Ala c.343C>G 3/3 False True no no rs144961211 96 717 1476 169 0.0074 0.00619 0.00604 0.00546 3 2 . . . . . . . 15.76 0.809 2.84 27 0.527 0.001 . . .
chr16:3333907 C/A chr16:g.3333907C>A . GT=0/1;AD=65:79;AB=0.55 GT=0/1;AD=55:36;AB=0.40 GT=0/0;AD=78:1;AB=0.01 ZNF263 NM_005741.4 missense_variant p.Pro30Gln c.89C>A 1/6 False True no no rs144448823 6 165 316 33 0.0005 0.00138 0.00129 0.00107 2 0 . . . . . . . 5.977 0.004,0.0 -0.269 76 -0.083 0.000 . . .
chr16:4700358 T/C chr16:g.4700358T>C . GT=0/1;AD=28:35;AB=0.56 GT=0/0;AD=48:0;AB=0.00 GT=0/1;AD=15:8;AB=0.35 MGRN1 NM_015246.3,NM_001142289.2,NM_001142290.2,NM_001142291.2,NR_102267.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|- .,.,.,.,.|-|-|-|- c.89-8T>C,c.89-8T>C,c.89-8T>C,c.89-8T>C,n.226-8T>C|-|-|-|- 1/16,1/15,1/16,1/15,1/14|-|-|-|- False True no no rs376676534 13 82 168 36 0.0011 0.00068 0.00074 0.00116 2 0 . . . . . . . . . . .,.,.,.,. -1.581 0.371 . . .
chr16:5077157 C/G chr16:g.5077157C>G . GT=0/1;AD=40:54;AB=0.57 GT=0/1;AD=23:25;AB=0.52 GT=0/0;AD=49:0;AB=0.00 NAGPA NM_016256.3 missense_variant p.Gly440Ala c.1319G>C 9/10 False True no no rs149923128 14 112 209 14 0.0011 0.00092 0.00085 0.00045 4 0 . . . . . . . 5.709 0.156 0.304 60 -1.247 0.000 . . .
chr16:5094401 G/T chr16:g.5094401G>T . GT=0/1;AD=62:58;AB=0.48 GT=0/1;AD=39:26;AB=0.40 GT=0/0;AD=63:0;AB=0.00 C16orf89 NM_001098514.2,NM_152459.4 missense_variant,3_prime_UTR_variant|- p.Pro345Gln,.|- c.1034C>A,c.*183C>A|- 8/8,8/8|- False True no no rs766056131 . . 5 . 0.0000 0.00000 0.00002 0.00000 2 0 . . . . . . . 3.030 0.986 1.05 76,. -1.563 0.000 . . .
chr16:11650390 G/A chr16:g.11650390G>A . GT=0/1;AD=44:32;AB=0.42 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=16:16;AB=0.50 LITAF NM_001136472.1,NM_004862.3,NM_001136473.1,NR_024320.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|- p.Ala66Val,p.Ala66Val,p.Ala66Val,.|-|-|- c.197C>T,c.197C>T,c.197C>T,n.331C>T|-|-|- 2/4,2/4,2/5,2/4|-|-|- False True no no rs140714668 3 4 3 3 0.0002 0.00003 0.00001 0.00010 2 0 Charcot-Marie-Tooth_disease,_type_1C,_601098_(3),_Autosomal_dominant AD . . . . COSM6358153|COSM6358152|COSM6358151 0.483 0.001,0.0,0.0 0.216 64,64,64,. 0.266 0.029 . . .
chr16:11773132 C/G chr16:g.11773132C>G . GT=0/1;AD=68:73;AB=0.52 GT=0/1;AD=50:37;AB=0.42 GT=0/0;AD=49:0;AB=0.00 TXNDC11 NM_001303447.1,NM_001324022.1,NM_001324024.1,NM_001324025.1,NM_015914.6,NR_136671.1,NR_136672.1,NR_136673.1,NR_136674.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|-|-|-|- p.Gln959His,p.Gln718His,p.Gln480His,p.Gln480His,p.Gln932His,.,.,.,.|-|-|-|-|-|-|-|- c.2877G>C,c.2154G>C,c.1440G>C,c.1440G>C,c.2796G>C,n.2151G>C,n.2038G>C,n.2021G>C,n.1908G>C|-|-|-|-|-|-|-|- 13/13,11/11,11/11,10/10,12/12,11/11,10/10,10/10,9/9|-|-|-|-|-|-|-|- False True no no rs143847447 36 262 499 45 0.0028 0.00218 0.00204 0.00145 4 1 . . . . . . . 0.624 0.41,0.0 -10.4 24,24,24,24,24,.,.,.,. -1.239 0.000 . . .
chr16:11931975 GA/G,AA chr16:g.11931976delA,chr16:g.11931976delA Multiallelic GT=0/2;AD=52:0:15;AB=0.00:0.22 GT=0/0;AD=44:7:7;AB=0.12:0.12 GT=0/0;AD=32:12:12;AB=0.21:0.21 RSL1D1 NM_015659.2 -|splice_region_variant&intron_variant -|. -|c.1147-6delT -|8/8 False True no no rs377189340;rs765358440 335,. 1071,. 889,33 365,8 0.0274:0.0000 0.00969:0.00000 0.00586:0.00022 0.01399:0.00031 0:2 1:0 . . . . . . COSM7279464,. . . . .,. -1.649 0.000 . . .
chr16:19718333 A/C chr16:g.19718333A>C . GT=0/1;AD=81:92;AB=0.53 GT=0/1;AD=50:51;AB=0.51 GT=0/0;AD=70:0;AB=0.00 KNOP1 NM_001012991.2 missense_variant p.Trp426Gly c.1276T>G 5/5 False True no no rs200976200 13 128 293 16 0.0011 0.00106 0.00119 0.00052 2 0 . . . . . . COSM1196739 19.11 1.0 3.18 184 0.108 0.000 . . .
chr16:23409367 G/A chr16:g.23409367G>A . GT=0/1;AD=35:42;AB=0.55 GT=0/0;AD=70:0;AB=0.00 GT=0/1;AD=23:19;AB=0.45 COG7 NM_153603.3 splice_region_variant&synonymous_variant p.Asn629Asn c.1887C>T 14/17 False True no no rs111413151 1 2 4 . 0.0001 0.00002 0.00002 0.00000 2 0 Congenital_disorder_of_glycosylation,_type_IIe,_608779_(3) . . . . Likely_benign COSM6229731 . . . . 0.887 0.000 . . .
chr16:29883587 A/G chr16:g.29883587A>G . GT=0/1;AD=90:61;AB=0.40 GT=0/1;AD=29:40;AB=0.58 GT=0/0;AD=52:0;AB=0.00 SEZ6L2 NM_001243332.1,NM_001114099.2,NM_001114100.2,NM_001243333.1,NM_012410.3,NM_201575.3 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|- p.Leu888Pro,p.Leu805Pro,p.Leu774Pro,p.Leu844Pro,p.Leu818Pro,p.Leu875Pro|-|-|-|-|- c.2663T>C,c.2414T>C,c.2321T>C,c.2531T>C,c.2453T>C,c.2624T>C|-|-|-|-|- 17/18,16/17,15/16,16/17,17/18,16/17|-|-|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 20.3 0.047,0.998,0.998,0.998,0.995,0.999 5.43 98,98,98,98,98,98 1.782 0.079 . . .
chr16:30675719 G/GC,GCC chr16:g.30675719_30675720insC,chr16:g.30675719_30675720insCC Multiallelic GT=0/2;AD=50:4:14;AB=0.06:0.21 GT=0/0;AD=40:1:1;AB=0.02:0.02 GT=0/0;AD=26:1:1;AB=0.04:0.04 FBRS NM_001105079.2 -|frameshift_variant -|p.Pro417fs -|c.1246_1247dupCC -|7/18 True True yes no rs769686240 0,. 6,. 257,4 67,19 0.0000:0.0000 0.00254:0.00000 0.00394:0.00006 0.00230:0.00065 9:1 0:0 . . . . . . . . . . .,. 0.897 1.000 . . .
chr16:49670325 G/A chr16:g.49670325G>A . GT=0/1;AD=93:79;AB=0.46 GT=0/0;AD=89:0;AB=0.00 GT=0/1;AD=27:32;AB=0.54 ZNF423 NM_015069.4,NM_001271620.2 missense_variant,missense_variant|- p.Pro913Leu,p.Pro853Leu|- c.2738C>T,c.2558C>T|- 4/8,4/8|- False True no no rs200585917 2 22 39 5 0.0002 0.00018 0.00016 0.00016 2 0 Joubert_syndrome_19,_614844_(3),_Autosomal_recessive,_Autosomal_dominant|Nephronophthisis_14,_614844_(3),_Autosomal_recessive,_Autosomal_dominant AR,AD|AR,AD . DM "Nephronophthisis-related_ciliopathy" Pathogenic . 24.6 1.0 4.81 98,98 2.503 1.000 . . .
chr16:57935275 T/A chr16:g.57935275T>A . GT=0/1;AD=58:56;AB=0.49 GT=0/1;AD=39:33;AB=0.46 GT=0/0;AD=49:0;AB=0.00 CNGB1 NM_001297.4,NM_001286130.1 missense_variant,missense_variant|- p.Asn986Ile,p.Asn980Ile|- c.2957A>T,c.2939A>T|- 29/33,29/33|- False True no no rs201162411 8 133 292 49 0.0006 0.00110 0.00119 0.00158 2 1 Retinitis_pigmentosa_45,_613767_(3),_Autosomal_recessive AR . DM "Retinitis_pigmentosa" Uncertain_significance . 28.3 0.208,0.983 5.2 149,149 -0.746 0.000 . . .
chr16:70925723 G/A chr16:g.70925723G>A . GT=0/1;AD=240:71;AB=0.23 GT=0/1;AD=129:48;AB=0.27 GT=0/0;AD=114:0;AB=0.00 HYDIN NM_001270974.2 missense_variant p.Ala3161Val c.9482C>T 57/86 False True no yes rs200297970 . . . 1 0.0000 0.00000 0.00000 0.00010 2 0 Ciliary_dyskinesia,_primary,_5,_608647_(3),_Autosomal_recessive AR . . . . . 1.963 0.01 2.62 64 1.307 0.000 . . .
chr16:70993592 G/A chr16:g.70993592G>A . GT=0/1;AD=236:81;AB=0.26 GT=0/1;AD=122:44;AB=0.27 GT=0/0;AD=139:0;AB=0.00 HYDIN NM_001270974.2 missense_variant p.Arg2034Trp c.6100C>T 39/86 False True no yes rs201606263 0 9 17 3 0.0000 0.00012 0.00009 0.00013 2 0 Ciliary_dyskinesia,_primary,_5,_608647_(3),_Autosomal_recessive AR . . . . . 33 1.0 3.63 101 1.307 0.000 . . .
chr16:81181753 C/G chr16:g.81181753C>G . GT=0/1;AD=47:45;AB=0.49 GT=0/1;AD=24:30;AB=0.56 GT=0/0;AD=48:0;AB=0.00 PKD1L2 NM_052892.3,NM_001278425.1,NR_126532.1 missense_variant,missense_variant,non_coding_transcript_exon_variant|-|- p.Val1655Leu,p.Val970Leu,.|-|- c.4963G>C,c.2908G>C,n.4963G>C|-|- 29/43,18/32,29/43|-|- False True no no rs200367796 0 5 6 . 0.0000 0.00009 0.00003 0.00000 2 0 . . . . . . . . . . 32,32,. -3.291 0.000 . . .
chr16:82660738 C/A chr16:g.82660738C>A . GT=0/1;AD=56:59;AB=0.51 GT=0/1;AD=26:31;AB=0.54 GT=0/0;AD=54:0;AB=0.00 CDH13 NM_001220488.1,NM_001220491.1,NM_001220492.1,NM_001220489.1,NM_001257.4,NM_001220490.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,5_prime_UTR_variant|-|-|-|-|- p.Pro26Thr,p.Ser14Tyr,p.Ser14Tyr,p.Ser14Tyr,p.Ser14Tyr,.|-|-|-|-|- c.76C>A,c.41C>A,c.41C>A,c.41C>A,c.41C>A,c.-513C>A|-|-|-|-|- 1/15,1/5,1/6,1/13,1/14,1/13|-|-|-|-|- False True no no rs753448816 0 7 13 2 0.0000 0.00011 0.00006 0.00006 2 0 . . . . . . . 22.2,22.2 1.0,0.995,0.998,0.995 5.53,5.53 38,144,144,144,144,. -0.516 0.001 . . .
chr16:84030864 G/A chr16:g.84030864G>A . GT=0/1;AD=67:57;AB=0.46 GT=0/1;AD=43:32;AB=0.43 GT=0/0;AD=56:0;AB=0.00 NECAB2 NM_019065.2,NM_001329749.1,NM_001329748.1 missense_variant,missense_variant,intron_variant|-|- p.Gly280Asp,p.Gly197Asp,.|-|- c.839G>A,c.590G>A,c.796-946G>A|-|- 9/13,8/12,8/11|-|- False True no no rs138651354 15 117 232 21 0.0012 0.00096 0.00094 0.00068 2 0 . . . . . . . 12.02 0.966 4.32 94,94,. -5.077 0.000 . . .
chr16:84212632 C/G chr16:g.84212632C>G . GT=0/1;AD=94:75;AB=0.44 GT=0/0;AD=119:0;AB=0.00 GT=0/1;AD=41:23;AB=0.36 TAF1C NM_005679.3,NM_001243156.1,NM_001243157.1,NM_001243158.1,NM_001243159.1,NM_001243160.1,NM_139353.2 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|- p.Ser842Thr,p.Ser816Thr,p.Ser510Thr,p.Ser510Thr,p.Ser433Thr,p.Ser365Thr,p.Ser748Thr|-|-|-|-|-|- c.2525G>C,c.2447G>C,c.1529G>C,c.1529G>C,c.1298G>C,c.1094G>C,c.2243G>C|-|-|-|-|-|- 14/14,15/15,12/12,11/11,14/14,12/12,15/15|-|-|-|-|-|- False True no no rs761325818 0 5 10 1 0.0000 0.00004 0.00004 0.00003 2 0 . . . . . . . 18.30 0.998,0.998,0.998,0.99 4.81 58,58,58,58,58,58,58 -2.298 0.000 . . .
chr16:88643999 G/T chr16:g.88643999G>T . GT=0/1;AD=74:68;AB=0.48 GT=0/1;AD=46:40;AB=0.47 GT=0/0;AD=48:0;AB=0.00 ZC3H18 NM_001294340.1,NM_144604.3 missense_variant,missense_variant|- p.Glu156Asp,p.Glu156Asp|- c.468G>T,c.468G>T|- 2/19,2/18|- False True no no rs780333803 0 1 4 . 0.0000 0.00001 0.00002 0.00000 2 0 . . . . . . . 7.472 0.001,0.001 0.0302 45,45 0.583 1.000 . . .
chr17:1371365 C/T chr17:g.1371365C>T . GT=0/1;AD=77:61;AB=0.44 GT=0/0;AD=97:0;AB=0.00 GT=0/1;AD=35:34;AB=0.49 MYO1C NM_001080779.1,NM_001080950.1,NM_033375.4 missense_variant,missense_variant,missense_variant|-|- p.Arg938Gln,p.Arg919Gln,p.Arg903Gln|-|- c.2813G>A,c.2756G>A,c.2708G>A|-|- 28/32,28/32,28/32|-|- False True no no rs775495196 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 . . . . . . COSM4263370|COSM2738079 18.89 1.0,1.0 5.7 43,43,43 -0.488 0.000 . . .
chr17:1494165 G/A chr17:g.1494165G>A . GT=0/1;AD=88:70;AB=0.44 GT=0/0;AD=106:0;AB=0.00 GT=0/1;AD=39:41;AB=0.51 SLC43A2 NM_001284498.1,NM_001284499.1,NM_001321365.1,NM_001321364.1,NM_152346.2 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Arg337Trp,p.Arg200Trp,p.Arg337Trp,p.Arg337Trp,p.Arg337Trp|-|-|-|- c.1009C>T,c.598C>T,c.1009C>T,c.1009C>T,c.1009C>T|-|-|-|- 9/15,5/10,9/15,9/15,9/14|-|-|-|- False True no no rs1263594674 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 17.84 1.0,1.0,0.989,0.986 3.66 101,101,101,101,101 1.944 0.005 . . .
chr17:2966003 G/A chr17:g.2966003G>A . GT=0/1;AD=87:11;AB=0.11 GT=0/1;AD=38:17;AB=0.31 GT=0/0;AD=35:0;AB=0.00 OR1D5 NM_014566.1 missense_variant p.Pro300Leu c.899C>T 1/1 False True no no rs372648123 90 629 522 95 0.0075 0.00628 0.00221 0.00321 2 2 . . . . . . . . . . 98 0.095 0.027 . . .
chr17:4794973 C/A chr17:g.4794973C>A . GT=0/1;AD=68:74;AB=0.52 GT=0/1;AD=44:44;AB=0.50 GT=0/0;AD=64:0;AB=0.00 MINK1 NM_153827.4,NM_001024937.3,NM_001321236.1,NM_015716.4,NM_170663.4 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|- p.Pro655Thr,p.Pro635Thr,p.Pro600Thr,p.Pro655Thr,p.Pro655Thr|-|-|-|- c.1963C>A,c.1903C>A,c.1798C>A,c.1963C>A,c.1963C>A|-|-|-|- 16/32,16/32,17/32,16/31,16/32|-|-|-|- False True no no rs199633382 0 28 87 14 0.0000 0.00041 0.00039 0.00045 2 0 . . . . . . . 21.6 0.103,0.103,0.063,0.103 4.06 38,38,38,38,38 4.383 1.000 . . .
chr17:7329685 T/TCGC chr17:g.7329685_7329686insCGC . GT=0/1;AD=47:63;AB=0.57 GT=0/1;AD=36:31;AB=0.46 GT=0/0;AD=53:0;AB=0.00 C17orf74 NM_175734.4 disruptive_inframe_insertion p.Arg130dup c.389_391dupGCC 3/3 False True no no rs773768189 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . . 0.002 0.000 . . .
chr17:7750474 A/G chr17:g.7750474A>G . GT=0/1;AD=70:64;AB=0.48 GT=0/1;AD=42:40;AB=0.49 GT=0/0;AD=66:0;AB=0.00 KDM6B NM_001080424.1 missense_variant p.Thr321Ala c.961A>G 10/22 False True no yes rs747888456 0 3 13 . 0.0000 0.00003 0.00005 0.00000 2 0 . . . . . . . 0.001 0.0 -10.7 58 1.637 1.000 . . .
chr17:7750532 G/C chr17:g.7750532G>C . GT=0/1;AD=84:12;AB=0.12 GT=0/0;AD=53:13;AB=0.20 GT=0/0;AD=30:8;AB=0.21 KDM6B NM_001080424.1 missense_variant p.Arg340Pro c.1019G>C 10/22 False True no yes rs775753332 0 225 1226 7 0.0000 0.00234 0.00781 0.00040 2 1 . . . . . . . 22.6 0.989 3.72 103 1.637 1.000 . . .
chr17:8134785 T/C chr17:g.8134785T>C . GT=0/1;AD=49:37;AB=0.43 GT=0/1;AD=33:20;AB=0.38 GT=0/0;AD=36:0;AB=0.00 CTC1 NM_025099.5,NR_046431.1 splice_region_variant&synonymous_variant,splice_region_variant&non_coding_transcript_exon_variant|- p.Thr826Thr,.|- c.2478A>G,n.2432A>G|- 15/23,15/22|- False True no no rs200643329 17 135 326 21 0.0014 0.00118 0.00136 0.00068 2 0 Cerebroretinal_microangiopathy_with_calcifications_and_cysts,_612199_(3),_Autosomal_recessive AR . . . Conflicting_interpretations_of_pathogenicity . . . . .,. 0.577 0.000 . . .
chr17:8706748 C/T chr17:g.8706748C>T . GT=0/1;AD=54:47;AB=0.47 GT=0/1;AD=24:30;AB=0.56 GT=0/0;AD=26:0;AB=0.00 PIK3R6 NM_001010855.3,NM_001290211.1,NR_110865.1 splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|- .,.,.|-|- c.2106-1G>A,c.1698-1G>A,n.2584-1G>A|-|- 19/19,19/19,19/19|-|- True True no no rs201062021 9 78 239 10 0.0007 0.00069 0.00104 0.00032 3 0 . . . . . . . . . . .,.,. 0.258 0.000 . . .
chr17:17786042 G/T chr17:g.17786042G>T . GT=0/1;AD=69:66;AB=0.49 GT=0/1;AD=47:40;AB=0.46 GT=0/0;AD=78:0;AB=0.00 TOM1L2 NM_001082968.1,NM_001033551.2,NM_001288787.1,NM_001288786.1,NM_001288788.1,NM_001288789.1 missense_variant,missense_variant,missense_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|- p.Pro213Thr,p.Pro163Thr,p.Pro168Thr,.,.,.|-|-|-|-|- c.637C>A,c.487C>A,c.502C>A,c.501+1906C>A,c.367-2985C>A,c.217-2985C>A|-|-|-|-|- 6/15,5/14,5/14,5/14,4/11,3/12|-|-|-|-|- False True no no rs146710625 11 30 47 26 0.0008 0.00025 0.00019 0.00084 2 0 . . . . . . . 22.5 0.104,0.934,0.081,0.326 4.73 38,38,38,.,.,. 0.747 0.001 . . .
chr17:18654286 G/T chr17:g.18654286G>T . GT=0/1;AD=58:58;AB=0.50 GT=0/0;AD=73:1;AB=0.01 GT=0/1;AD=24:17;AB=0.41 FBXW10 NM_001267585.1,NM_001267586.1,NR_051988.1 missense_variant,missense_variant,non_coding_transcript_exon_variant|-|- p.Val348Phe,p.Val348Phe,.|-|- c.1042G>T,c.1042G>T,n.1920G>T|-|- 5/14,5/13,5/14|-|- False True no no rs761931712 0 2 7 . 0.0000 0.00002 0.00003 0.00000 2 0 . . . . . . . 0.005 0.96,0.96,0.933,0.919 -4.19 50,50,. 1.226 0.000 . . .
chr17:19480780 G/T chr17:g.19480780G>T . GT=0/1;AD=79:66;AB=0.46 GT=0/1;AD=48:47;AB=0.49 GT=0/0;AD=66:0;AB=0.00 SLC47A1 NM_018242.2 missense_variant p.Val543Leu c.1627G>T 17/17 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 5.654 0.001,0.001,0.179,0.002 -0.776 32 -0.159 0.000 . . .
chr17:29761093 G/A chr17:g.29761093G>A . GT=0/1;AD=65:66;AB=0.50 GT=0/0;AD=80:0;AB=0.00 GT=0/1;AD=26:34;AB=0.57 RAB11FIP4 NM_032932.5 missense_variant p.Ala97Thr c.289G>A 3/15 False True no no rs142110971 4 11 28 4 0.0003 0.00019 0.00014 0.00013 2 0 . . . . . . . 0.246 0.001 1.24 58 2.591 0.994 . . .
chr17:37879585 A/G chr17:g.37879585A>G . GT=0/1;AD=45:37;AB=0.45 GT=0/0;AD=63:0;AB=0.00 GT=0/1;AD=19:17;AB=0.47 ERBB2 NM_004448.3,NM_001005862.2,NM_001289936.1,NM_001289937.1,NR_110535.1 missense_variant,missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|-|- p.Ile654Val,p.Ile624Val,p.Ile639Val,p.Ile654Val,.|-|-|-|- c.1960A>G,c.1870A>G,c.1915A>G,c.1960A>G,n.2284A>G|-|-|-|- 17/27,20/30,21/31,17/26,17/27|-|-|-|- False True no no rs1801201 92 583 1204 136 0.0071 0.00481 0.00489 0.00442 3 1 Adenocarcinoma_of_lung,_somatic,_211980_(3)|Gastric_cancer,_somatic,_613659_(3)|Glioblastoma,_somatic,_137800_(3)|Ovarian_cancer,_somatic_(3) .|.|.|. . . . Benign COSM6854579 22.4 0.196,0.124,0.303 4.97 29,29,29,29,. 3.287 0.002 . . .
chr17:38512383 C/T chr17:g.38512383C>T . GT=0/1;AD=51:56;AB=0.52 GT=0/1;AD=29:29;AB=0.50 GT=0/0;AD=56:4;AB=0.07 RARA NM_000964.3,NM_001145301.2,NM_001145302.2,NM_001024809.3 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Arg432Trp,p.Arg432Trp,p.Arg335Trp,p.Arg427Trp|-|-|- c.1294C>T,c.1294C>T,c.1003C>T,c.1279C>T|-|-|- 9/9,9/9,7/7,8/8|-|-|- False True no no rs1188389540 . . 1 1 0.0000 0.00000 0.00001 0.00005 2 0 Leukemia,_acute_promyelocytic,_612376_(1) . . . . . COSM6912291|COSM6912292 19.70 0.938,0.938,0.938 2.62 101,101,101,101 3.112 0.964 . . .
chr17:38911132 C/G chr17:g.38911132C>G . GT=0/1;AD=76:70;AB=0.48 GT=0/1;AD=37:43;AB=0.54 GT=0/0;AD=70:0;AB=0.00 KRT25 NM_181534.3 missense_variant p.Ser131Thr c.392G>C 1/8 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Woolly_hair,_autosomal_recessive_3,_616760_(3),_Autosomal_recessive AR . . . . . 23.7 0.34 4.95 58 0.127 0.000 . . .
chr17:39092486 C/T chr17:g.39092486C>T . GT=0/1;AD=72:73;AB=0.50 GT=0/0;AD=82:0;AB=0.00 GT=0/1;AD=22:32;AB=0.59 KRT23 NM_015515.4,NM_001282433.1 missense_variant,intron_variant|- p.Glu124Lys,.|- c.370G>A,c.-16+894G>A|- 2/9,1/7|- False True no no rs1237958319 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 14.92 0.276 4.75 56,. 0.254 0.000 . . .
chr17:39197463 C/T chr17:g.39197463C>T . GT=0/1;AD=127:169;AB=0.57 GT=0/0;AD=197:1;AB=0.01 GT=0/1;AD=60:67;AB=0.53 KRTAP1-1 NM_030967.2 missense_variant p.Gly63Ser c.187G>A 1/1 False True no no rs756291377 0 3 3 . 0.0000 0.00002 0.00001 0.00000 2 0 . . . . . . COSM3717342 2.656 0.0 -1.99 56 0.096 0.000 . . .
chr17:39973383 A/G chr17:g.39973383A>G . GT=0/1;AD=100:88;AB=0.47 GT=0/0;AD=106:0;AB=0.00 GT=0/1;AD=32:39;AB=0.55 FKBP10 NM_021939.3 missense_variant p.Met107Val c.319A>G 2/10 False True no no . . . 1 . 0.0000 0.00000 0.00000 0.00000 2 0 Bruck_syndrome_1,_259450_(3),_Autosomal_recessive|Osteogenesis_imperfecta,_type_XI,_610968_(3),_Autosomal_recessive AR|AR . . . . . 22.1 0.131 2.73 21 0.674 0.000 . . .
chr17:43012248 C/T chr17:g.43012248C>T . GT=0/1;AD=67:48;AB=0.42 GT=0/1;AD=33:26;AB=0.44 GT=0/0;AD=60:0;AB=0.00 KIF18B NM_001265577.1,NM_001264573.1 missense_variant,missense_variant|- p.Arg176His,p.Arg176His|- c.527G>A,c.527G>A|- 4/16,4/15|- False True no no rs150295111 38 30 122 105 0.0033 0.00151 0.00079 0.00340 2 1 . . . . . . . 33 1.0,1.0,1.0 4.74 29,29 1.218 0.002 . . .
chr17:44408334 G/C chr17:g.44408334G>C . GT=1/1;AD=0:80;AB=1.00 GT=1/1;AD=0:51;AB=1.00 GT=0/0;AD=0:0;AB=0.00 ARL17A,ARL17B,LRRC37A NM_014834.4,NM_016632.2,NM_001103154.1 missense_variant,intron_variant,intron_variant|-|- p.Val1231Leu,.,.|-|- c.3691G>C,c.259+21852C>G,c.259+21852C>G|-|- 9/14,3/4,3/3|-|- False True no yes rs138752722 29 68 134 62 0.0041 0.00126 0.00110 0.00437 2 1 . . . . . . . 0.038 0.002,0.001,0.262 -3.78 32,.,. .,0.868,1.263 .,0.336,0.049 . . .
chr17:45214727 C/CTCTGGAGGATTT,CTCTGGAGGA,CTCTGGAGGAT,CTGGCTGGCGAAT,CTCTGGCTGGCGAATTT chr17:g.45214727_45214728insTCTGGAGGATTT,chr17:g.45214727_45214728insTCTGGAGGA,chr17:g.45214727_45214728insTCTGGAGGAT,chr17:g.45214727_45214728insTGGCTGGCGAAT,chr17:g.45214727_45214728insTCTGGCTGGCGAATTT Multiallelic GT=0/2;AD=159:0:89:0:0:0;AB=0.00:0.36:0.00:0.00:0.00 GT=0/3;AD=133:0:0:49:0:0;AB=0.00:0.00:0.27:0.00:0.00 GT=0/0;AD=334:2:2:2:2:2;AB=0.01:0.01:0.01:0.01:0.01 CDC27 NM_001114091.2,NM_001256.4,NM_001293089.1,NM_001293091.1 -|splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant,splice_acceptor_variant&intron_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- -|.,.,.,.|.,.,.,.|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- -|c.1723-2_1723-1insATCCTCCAGA,c.1705-2_1705-1insATCCTCCAGA,c.1702-2_1702-1insATCCTCCAGA,c.1522-2_1522-1insATCCTCCAGA|c.1723-2_1723-1insAAATCCTCCAGA,c.1705-2_1705-1insAAATCCTCCAGA,c.1702-2_1702-1insAAATCCTCCAGA,c.1522-2_1522-1insAAATCCTCCAGA|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- -|13/18,13/18,13/18,12/17|13/18,13/18,13/18,12/17|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- True True yes yes rs749867179 .,.,.,.,. .,.,.,.,. 12,7,13,.,. .,.,.,.,. 0.0000:0.0000:0.0000:0.0000:0.0000 0.00000:0.00000:0.00000:0.00000:0.00000 0.00006:0.00003:0.00006:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000:0.00000 8:5:3:1:0 0:0:0:0:5 . . . . . . . . . . .,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,. 3.619 0.999 . . .
chr17:45219804 T/TCGGTTGTGGAGCTGTCACTAGTCAAGAGTCGTGAATTTCTTC chr17:g.45219804_45219805insCGGTTGTGGAGCTGTCACTAGTCAAGAGTCGTGAATTTCTTC . GT=0/1;AD=58:15;AB=0.20 GT=0/0;AD=42:0;AB=0.00 GT=0/0;AD=24:0;AB=0.00 CDC27 NM_001114091.2,NM_001256.4,NM_001293089.1,NM_001293091.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.1189-3_1189-2insGAAGAAATTCACGACTCTTGACTAGTGACAGCTCCACAACCG,c.1171-3_1171-2insGAAGAAATTCACGACTCTTGACTAGTGACAGCTCCACAACCG,c.1171-3_1171-2insGAAGAAATTCACGACTCTTGACTAGTGACAGCTCCACAACCG,c.988-3_988-2insGAAGAAATTCACGACTCTTGACTAGTGACAGCTCCACAACCG|-|-|- 10/18,10/18,10/18,9/17|-|-|- False True yes yes . . . . . 0.0000 0.00000 0.00000 0.00000 1 0 . . . . . . . . . . .,.,.,. 3.619 0.999 . chr17:45216103:45259005:DEL .
chr17:45425209 C/T chr17:g.45425209C>T . GT=0/1;AD=81:59;AB=0.42 GT=0/1;AD=44:39;AB=0.47 GT=0/0;AD=72:0;AB=0.00 EFCAB13 NM_152347.4,NM_001195192.1 stop_gained,intron_variant|- p.Arg185*,.|- c.553C>T,c.517+2745C>T|- 9/25,8/21|- True True no no rs201299500 4 34 53 11 0.0003 0.00028 0.00023 0.00036 2 0 . . . . . . . 18.98 . 2.55 .,. 1.079 0.000 . . .
chr17:46675198 C/G chr17:g.46675198C>G . GT=0/1;AD=115:105;AB=0.48 GT=0/1;AD=62:57;AB=0.48 GT=0/0;AD=100:0;AB=0.00 HOXB-AS3,HOXB6 NM_018952.4,NR_110331.1,NR_033202.2,NR_033201.2,NR_033203.1,NR_110329.1,NR_033204.2,NR_033205.1,NR_110330.1 missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|- p.Lys105Asn,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|- c.315G>C,n.171-2611C>G,n.171-2611C>G,n.171-6091C>G,n.74-2611C>G,n.74-4243C>G,n.73+5472C>G,n.166+1713C>G,n.166+1713C>G|-|-|-|-|-|-|-|- 3/4,1/3,1/2,1/2,1/2,1/1,1/2,1/2,1/1|-|-|-|-|-|-|-|- False True no no rs143197683 6 22 47 9 0.0005 0.00032 0.00021 0.00029 2 0 . . . . . . . 22.5 0.999,0.995 5.39 94,.,.,.,.,.,.,.,. .,0.182 .,0.001 . . .
chr17:56389364 G/A chr17:g.56389364G>A . GT=0/1;AD=93:95;AB=0.51 GT=0/1;AD=53:54;AB=0.51 GT=0/0;AD=103:0;AB=0.00 TSPOAP1 NM_004758.3,NM_001261835.1,NM_024418.2 missense_variant,missense_variant,missense_variant|-|- p.Pro940Ser,p.Pro940Ser,p.Pro880Ser|-|- c.2818C>T,c.2818C>T,c.2638C>T|-|- 17/32,17/32,16/31|-|- False True no no rs138562714 2 32 68 2 0.0002 0.00027 0.00028 0.00006 2 0 . . . . . . . 22.4 0.201,0.502,0.079 4.95 74,74,74 . . . . .
chr17:73316552 T/C chr17:g.73316552T>C . GT=0/1;AD=44:59;AB=0.57 GT=0/0;AD=72:0;AB=0.00 GT=0/1;AD=32:23;AB=0.42 GRB2 NM_002086.4,NM_203506.2 missense_variant,missense_variant|- p.His184Arg,p.His143Arg|- c.551A>G,c.428A>G|- 6/6,5/5|- False True no no rs772698801 0 1 1 . 0.0000 0.00001 0.00000 0.00000 2 0 . . . . . . . 22.3 0.001,0.587 5.45 29,29 2.929 0.942 . . .
chr17:73513151 G/T chr17:g.73513151G>T . GT=0/1;AD=107:97;AB=0.47 GT=0/1;AD=48:55;AB=0.53 GT=0/0;AD=76:0;AB=0.00 TSEN54 NM_207346.2 missense_variant&splice_region_variant p.Ala95Ser c.283G>T 3/11 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Pontocerebellar_hypoplasia_type_2A,_277470_(3),_Autosomal_recessive|Pontocerebellar_hypoplasia_type_4,_225753_(3),_Autosomal_recessive|?Pontocerebellar_hypoplasia_type_5,_610204_(3),_Autosomal_recessive AR|AR|AR . . . . . 22.0 1.0,1.0 4.27 99 0.028 0.000 . . .
chr17:73586331 G/A chr17:g.73586331G>A . GT=0/1;AD=57:66;AB=0.54 GT=0/1;AD=23:29;AB=0.56 GT=0/0;AD=48:0;AB=0.00 MYO15B NM_001309242.1 splice_region_variant&intron_variant . c.2186+7G>A 1/62 False True no yes rs1046878473 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . . 0.575 0.000 . . .
chr17:73617420 C/T chr17:g.73617420C>T . GT=0/1;AD=45:45;AB=0.50 GT=0/1;AD=22:29;AB=0.57 GT=0/0;AD=43:0;AB=0.00 MYO15B NM_001309242.1 splice_region_variant&intron_variant . c.7755-5C>T 49/62 False True no yes rs776715691 . . 5 2 0.0000 0.00000 0.00004 0.00006 2 0 . . . . . . . . . . . 0.575 0.000 . . .
chr17:73900799 G/A chr17:g.73900799G>A . GT=0/1;AD=43:54;AB=0.56 GT=0/0;AD=76:0;AB=0.00 GT=0/1;AD=23:30;AB=0.57 MRPL38 NM_032478.3 splice_region_variant&synonymous_variant p.Ala23Ala c.69C>T 2/9 False True no no rs371338042 3 17 50 . 0.0002 0.00028 0.00027 0.00000 2 0 . . . . . . . . . . . 0.357 0.000 . . .
chr17:74382067 G/C chr17:g.74382067G>C . GT=0/1;AD=74:82;AB=0.53 GT=0/1;AD=53:45;AB=0.46 GT=0/0;AD=71:0;AB=0.00 SPHK1 NM_182965.2,NM_001142601.1,NM_001142602.1,NM_021972.3 splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant,splice_region_variant&synonymous_variant,synonymous_variant|-|-|- p.Ala90Ala,p.Ala4Ala,p.Ala4Ala,p.Ala18Ala|-|-|- c.270G>C,c.12G>C,c.12G>C,c.54G>C|-|-|- 3/6,3/6,2/5,3/6|-|-|- False True no no rs200800534 34 126 216 126 0.0028 0.00199 0.00098 0.00408 2 0 . . . . . . . . . . .,.,.,. 0.645 0.000 . . .
chr18:11885755 C/T chr18:g.11885755C>T . GT=0/1;AD=75:87;AB=0.54 GT=0/1;AD=49:48;AB=0.49 GT=0/0;AD=83:0;AB=0.00 MPPE1 NM_023075.5,NM_001319154.1,NM_001242904.1,NR_040242.3,NR_040241.1,NR_040243.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant,non_coding_transcript_exon_variant|-|-|-|-|- p.Val310Met,p.Val247Met,p.Val247Met,.,.,.|-|-|-|-|- c.928G>A,c.739G>A,c.739G>A,n.1592G>A,n.1724G>A,n.1727G>A|-|-|-|-|- 10/11,8/9,7/8,11/13,10/12,10/12|-|-|-|-|- False True no no rs376272422 1 2 3 . 0.0001 0.00002 0.00001 0.00000 2 0 . . . . . . COSM6871969 16.18 0.98,0.999,0.999,0.774 4.77 21,21,21,.,.,. 0.299 0.000 . . .
chr18:13068108 C/T chr18:g.13068108C>T . GT=0/1;AD=71:56;AB=0.44 GT=0/1;AD=43:45;AB=0.51 GT=0/0;AD=62:0;AB=0.00 CEP192 NM_032142.3 missense_variant p.Arg1544Cys c.4630C>T 23/45 False True no no rs761281163 0 1 3 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . . 17.78 0.816,0.689 4.51 180 1.126 0.000 . . .
chr18:22807107 C/T chr18:g.22807107C>T . GT=0/1;AD=84:81;AB=0.49 GT=0/1;AD=57:44;AB=0.44 GT=0/0;AD=64:0;AB=0.00 ZNF521 NM_015461.2,NM_001308225.1 missense_variant,missense_variant|- p.Glu259Lys,p.Glu39Lys|- c.775G>A,c.115G>A|- 4/8,3/7|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 27.9 0.986 5.92 56,56 2.584 1.000 . . .
chr18:61465987 C/T chr18:g.61465987C>T . GT=0/1;AD=50:56;AB=0.53 GT=0/0;AD=67:0;AB=0.00 GT=0/1;AD=26:21;AB=0.45 SERPINB7 NM_001040147.2,NM_001261831.1,NM_003784.3,NM_001261830.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.597+7C>T,c.546+7C>T,c.597+7C>T,c.597+7C>T|-|-|- 6/7,5/6,6/7,6/7|-|-|- False True no no rs374887071 1 9 21 2 0.0001 0.00007 0.00009 0.00006 2 0 Palmoplantar_keratoderma,_Nagashima_type,_615598_(3),_Autosomal_recessive AR . . . . . . . . .,.,.,. -0.541 0.000 . . .
chr18:67696040 A/G chr18:g.67696040A>G . GT=0/1;AD=50:43;AB=0.46 GT=0/0;AD=74:0;AB=0.00 GT=0/1;AD=25:24;AB=0.49 RTTN NM_173630.3,NM_001318520.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.5746-3T>C,c.3010-3T>C|- 42/48,41/47|- False True no no rs370297567 1 10 20 . 0.0001 0.00009 0.00008 0.00000 2 0 Microcephaly,_short_stature,_and_polymicrogyria_with_seizures,_614833_(3),_Autosomal_recessive AR . . . . . . . . .,. 0.264 0.000 . . .
chr18:72997828 C/A chr18:g.72997828C>A . GT=0/1;AD=44:91;AB=0.67 GT=0/0;AD=65:0;AB=0.00 GT=0/1;AD=19:39;AB=0.67 TSHZ1 NM_001308210.1,NM_005786.5 missense_variant,missense_variant|- p.Pro156Thr,p.Pro111Thr|- c.466C>A,c.331C>A|- 2/2,2/2|- False True no no rs138506259 67 436 852 129 0.0052 0.00721 0.00453 0.00429 2 0 Aural_atresia,_congenital,_607842_(3),_Autosomal_dominant AD . . . Likely_benign . 0.903 0.01 3.61 38,38 1.351 0.998 . . .
chr18:77013504 C/T chr18:g.77013504C>T . GT=0/1;AD=81:58;AB=0.42 GT=0/1;AD=43:54;AB=0.56 GT=0/0;AD=68:0;AB=0.00 ATP9B NM_198531.4,NM_001306085.1 missense_variant,missense_variant|- p.Arg411Trp,p.Arg411Trp|- c.1231C>T,c.1231C>T|- 12/30,12/29|- False True no no rs200586133 0 6 12 1 0.0000 0.00005 0.00005 0.00003 2 0 . . . . . . COSM3147256 22.2 1.0,1.0 5.95 101,101 0.889 0.000 . . .
chr18:77798607 G/A chr18:g.77798607G>A . GT=0/1;AD=53:60;AB=0.53 GT=0/1;AD=29:39;AB=0.57 GT=0/0;AD=53:0;AB=0.00 RBFA NM_024805.2,NM_001171967.1 missense_variant,missense_variant|- p.Ala161Thr,p.Ala161Thr|- c.481G>A,c.481G>A|- 4/7,4/6|- False True no no rs139845183 1 4 7 1 0.0001 0.00003 0.00003 0.00003 2 0 . . . . . . . 7.090 0.891,0.354 1.56 58,58 -0.321 0.000 . . .
chr19:501762 A/AGGAGCCTCCCGACACCACCTCCCC,AGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCC chr19:g.501762_501763insGGAGCCTCCCGACACCACCTCCCC,chr19:g.501762_501763insGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCC Multiallelic GT=0/2;AD=31:3:9;AB=0.07:0.21 GT=0/0;AD=152:5:5;AB=0.03:0.03 GT=0/0;AD=92:0:0;AB=0.00:0.00 MADCAM1 NM_130760.2,NM_130762.2 -|disruptive_inframe_insertion,intron_variant|-|- -|p.Thr259_Asp266dup,.|-|- -|c.776_799dupCCACCTCCCCGGAGCCTCCCGACA,c.667+2952_668-2945dupCCACCTCCCCGGAGCCTCCCGACA|-|- -|4/5,3/3|-|- False True yes no rs753354169 .,. .,. .,. .,. 0.0000:0.0000 0.00000:0.00000 0.00000:0.00000 0.00000:0.00000 0:2 1:0 . . . . . . . . . . .,.,.,. 0.769 0.494 . . .
chr19:1251584 A/T chr19:g.1251584A>T . GT=0/1;AD=76:58;AB=0.43 GT=0/0;AD=61:1;AB=0.02 GT=0/1;AD=25:16;AB=0.39 MIDN NM_177401.4 missense_variant p.Gln86Leu c.257A>T 3/8 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 15.75 0.0 0.321 113 0.560 0.192 . . .
chr19:5844671 GC/G chr19:g.5844672delC . GT=0/1;AD=121:24;AB=0.17 GT=0/0;AD=136:0;AB=0.00 GT=0/0;AD=97:0;AB=0.00 FUT3 NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1 frameshift_variant,frameshift_variant,frameshift_variant,frameshift_variant|-|-|- p.Arg60fs,p.Arg60fs,p.Arg60fs,p.Arg60fs|-|-|- c.179delG,c.179delG,c.179delG,c.179delG|-|-|- 3/3,3/3,3/3,2/2|-|-|- True True yes no rs1381669468 . . 2 . 0.0000 0.00000 0.00001 0.00000 1 0 [Blood_group,_Lewis]_(3) . . . . . . . . . .,.,.,. -0.194 0.000 . . .
chr19:5978065 C/G chr19:g.5978065C>G . GT=0/1;AD=75:63;AB=0.46 GT=0/0;AD=93:0;AB=0.00 GT=0/1;AD=33:19;AB=0.36 RANBP3 NM_007322.2,NM_001300865.1,NM_003624.2,NM_007320.2 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.22+7G>C,c.22+7G>C,c.22+7G>C,c.22+7G>C|-|-|- 1/16,1/15,1/16,1/15|-|-|- False True no no rs374234873 1 33 43 1 0.0001 0.00028 0.00018 0.00003 2 0 . . . . . . . . . . .,.,.,. 1.823 1.000 . . .
chr19:6479063 G/A chr19:g.6479063G>A . GT=0/1;AD=60:71;AB=0.54 GT=0/1;AD=41:33;AB=0.45 GT=0/0;AD=67:0;AB=0.00 DENND1C NM_024898.3,NM_001290331.1 missense_variant,missense_variant|- p.Pro61Ser,p.Pro17Ser|- c.181C>T,c.49C>T|- 5/23,3/21|- False True no no rs141509845 20 60 110 55 0.0016 0.00050 0.00045 0.00178 2 0 . . . . . . . 16.37 0.004 1.72 74,74 0.840 0.000 . . .
chr19:10472598 C/T chr19:g.10472598C>T . GT=0/1;AD=76:78;AB=0.51 GT=0/1;AD=47:51;AB=0.52 GT=0/0;AD=60:0;AB=0.00 TYK2 NM_003331.4 missense_variant p.Val603Met c.1807G>A 13/25 False True no no rs140594440 4 34 74 6 0.0003 0.00028 0.00030 0.00019 2 0 Immunodeficiency_35,_611521_(3),_Autosomal_recessive AR . . . Uncertain_significance COSM4738524 24.0 1.0,0.996 1.27 21 1.766 0.000 . . .
chr19:11892255 G/C chr19:g.11892255G>C . GT=0/1;AD=102:78;AB=0.43 GT=0/0;AD=109:1;AB=0.01 GT=0/1;AD=38:32;AB=0.46 ZNF441 NM_152355.2 missense_variant p.Gly539Ala c.1616G>C 4/4 False True no no rs146452126 104 862 1637 256 0.0080 0.00711 0.00665 0.00833 5 0 . . . . . . . 0.001 0.0 -2.44 60 1.659 0.370 . . .
chr19:13941340 G/C chr19:g.13941340G>C . GT=0/1;AD=69:78;AB=0.53 GT=0/0;AD=105:0;AB=0.00 GT=0/1;AD=27:33;AB=0.55 ZSWIM4 NM_023072.2 missense_variant p.Gly816Arg c.2446G>C 13/13 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 18.46 1.0,1.0 4.15 125 2.328 0.000 . . .
chr19:17837935 G/GCAGCCCGCC chr19:g.17837935_17837936insCAGCCCGCC . GT=0/1;AD=67:49;AB=0.42 GT=0/1;AD=31:21;AB=0.40 GT=0/0;AD=82:0;AB=0.00 MAP1S NM_018174.5,NM_001308363.1 disruptive_inframe_insertion,disruptive_inframe_insertion|- p.Pro583_Ser585dup,p.Pro557_Ser559dup|- c.1748_1756dupCGCCCAGCC,c.1670_1678dupCGCCCAGCC|- 5/7,5/7|- False True no no rs747369067 0 2 20 6 0.0000 0.00004 0.00010 0.00019 2 0 . . . . . . . . . . .,. 0.755 0.369 . . .
chr19:17945708 C/G chr19:g.17945708C>G . GT=0/1;AD=70:84;AB=0.55 GT=0/1;AD=41:47;AB=0.53 GT=0/0;AD=65:0;AB=0.00 JAK3 NM_000215.3 missense_variant p.Val718Leu c.2152G>C 16/24 False True no no rs146837396 5 54 158 20 0.0004 0.00045 0.00064 0.00065 2 0 SCID,_autosomal_recessive,_T-negative/B-positive_type,_600802_(3),_Autosomal_recessive AR . . . Conflicting_interpretations_of_pathogenicity COSM5946070 13.10 0.028,0.016 3.79 32 3.163 0.000 . . .
chr19:18092944 C/T chr19:g.18092944C>T . GT=0/1;AD=38:35;AB=0.48 GT=0/1;AD=21:16;AB=0.43 GT=0/0;AD=29:0;AB=0.00 KCNN1 NM_002248.4 splice_region_variant&intron_variant . c.917+8C>T 5/10 False True no no rs369729099 48 45 188 129 0.0037 0.00180 0.00148 0.00420 2 0 . . . . . . COSM1611811|COSM1611810 . . . . 2.437 0.840 . . .
chr19:18546369 G/T chr19:g.18546369G>T . GT=0/1;AD=75:57;AB=0.43 GT=0/1;AD=30:38;AB=0.56 GT=0/0;AD=45:0;AB=0.00 ISYNA1 NM_016368.4,NM_001253389.1,NR_045574.1,NM_001170938.1,NR_045573.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|-|- .,.,.,.,.|-|-|-|- c.1254+4C>A,c.870+4C>A,n.1142+4C>A,c.1092+4C>A,n.1278+4C>A|-|-|-|- 9/10,6/7,6/7,8/9,8/9|-|-|-|- False True no no rs138475386 26 221 549 77 0.0020 0.00256 0.00242 0.00249 2 0 . . . . . . . . . . .,.,.,.,. 1.366 0.000 . . .
chr19:22498548 T/C chr19:g.22498548T>C . GT=0/1;AD=86:92;AB=0.52 GT=0/1;AD=64:56;AB=0.47 GT=0/0;AD=98:0;AB=0.00 ZNF729 NM_001242680.1 missense_variant p.Phe777Leu c.2329T>C 4/4 False True no no rs547521731 0 67 175 19 0.0000 0.00063 0.00074 0.00061 2 1 . . . . . . . 15.81 . -1.99 22 -1.371 0.400 . . .
chr19:23328669 A/G chr19:g.23328669A>G . GT=0/1;AD=78:66;AB=0.46 GT=0/1;AD=49:60;AB=0.55 GT=0/0;AD=77:0;AB=0.00 ZNF730 NM_001277403.1 missense_variant p.Lys275Glu c.823A>G 4/4 False True no no rs182304692 0 11 24 5 0.0000 0.00011 0.00010 0.00016 2 0 . . . . . . . 16.42 . -1.32 56 -0.873 0.000 . . .
chr19:33167775 C/CG chr19:g.33167775_33167776insG . GT=0/1;AD=71:79;AB=0.53 GT=0/1;AD=46:37;AB=0.45 GT=0/0;AD=78:1;AB=0.01 RGS9BP NM_207391.2 frameshift_variant p.Cys206fs c.614dupG 1/1 True True no no rs781614544 . . . 12 0.0000 0.00000 0.00000 0.00039 2 0 Bradyopsia,_608415_(3) . . DM "Retinal_dysfunction" . . . . . . 0.807 0.003 . . .
chr19:35551712 C/A chr19:g.35551712C>A . GT=0/1;AD=43:71;AB=0.62 GT=0/0;AD=62:0;AB=0.00 GT=0/1;AD=18:23;AB=0.56 HPN,HPN-AS1 NM_002151.2,NM_182983.2,NR_024562.1 missense_variant,missense_variant,intron_variant|-|- p.Pro268Thr,p.Pro268Thr,.|-|- c.802C>A,c.802C>A,n.405-1030G>T|-|- 10/14,9/13,3/3|-|- False True no no rs773491716 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 20.7 0.006,0.005,0.008 4.77 38,38,. 1.895,. 0.999,. . . .
chr19:36110511 A/C chr19:g.36110511A>C . GT=0/1;AD=79:10;AB=0.11 GT=0/0;AD=46:14;AB=0.23 GT=0/0;AD=44:4;AB=0.08 HAUS5 NM_015302.1 splice_region_variant&intron_variant . c.1261-4A>C 14/18 False True no no rs1320477626 . . 341 22 0.0000 0.00000 0.00214 0.00166 5 0 . . . . . . . . . . . 0.984 0.000 . . .
chr19:39281334 A/G chr19:g.39281334A>G . GT=0/1;AD=157:66;AB=0.30 GT=0/0;AD=113:0;AB=0.00 GT=0/1;AD=67:34;AB=0.34 LGALS7B NM_001042507.3 missense_variant p.His34Arg c.101A>G 3/4 False True no no rs757644052 0 2 2 . 0.0000 0.00002 0.00001 0.00000 2 0 . . . . . . . 5.791 . 2.15 29 1.142 0.179 . . .
chr19:40392559 G/A chr19:g.40392559G>A . GT=0/1;AD=287:44;AB=0.13 GT=0/1;AD=118:33;AB=0.22 GT=0/0;AD=114:0;AB=0.00 FCGBP NM_003890.2 missense_variant p.Pro2649Ser c.7945C>T 16/36 False True no yes rs146160718 13 52 55 12 0.0010 0.00043 0.00022 0.00039 2 1 . . . . . . . 0.003 0.012 -1.54 74 2.006 0.000 . . .
chr19:40392569 G/C chr19:g.40392569G>C . GT=0/1;AD=306:44;AB=0.13 GT=0/1;AD=129:33;AB=0.20 GT=0/0;AD=125:0;AB=0.00 FCGBP NM_003890.2 missense_variant p.Ser2645Arg c.7935C>G 16/36 False True no yes rs142183229 15 55 63 11 0.0012 0.00045 0.00026 0.00036 2 1 . . . . . . . 2.414 0.975 -3.28 110 2.006 0.000 . . .
chr19:41173888 GC/G chr19:g.41173889delC . GT=0/1;AD=120:128;AB=0.52 GT=0/1;AD=75:65;AB=0.46 GT=0/0;AD=115:0;AB=0.00 NUMBL NM_004756.4,NM_001289980.1,NM_001289979.1 frameshift_variant,frameshift_variant,frameshift_variant|-|- p.Gln438fs,p.Gln397fs,p.Gln397fs|-|- c.1314delG,c.1191delG,c.1191delG|-|- 10/10,9/9,9/9|-|- True True no yes rs778153169 0 9 27 98 0.0000 0.00048 0.00019 0.00541 2 0 . . . . . . . . . . .,.,. 3.184 0.999 . . .
chr19:41173890 TGC/T chr19:g.41173891_41173892delGC . GT=0/1;AD=124:128;AB=0.51 GT=0/1;AD=73:66;AB=0.47 GT=0/0;AD=112:0;AB=0.00 NUMBL NM_004756.4,NM_001289980.1,NM_001289979.1 frameshift_variant,frameshift_variant,frameshift_variant|-|- p.Gln438fs,p.Gln397fs,p.Gln397fs|-|- c.1311_1312delGC,c.1188_1189delGC,c.1188_1189delGC|-|- 10/10,9/9,9/9|-|- True True no yes rs757322799 0 9 29 98 0.0000 0.00069 0.00022 0.00606 2 0 . . . . . . . . . . .,.,. 3.184 0.999 . . .
chr19:42911346 A/G chr19:g.42911346A>G . GT=0/1;AD=58:54;AB=0.48 GT=0/0;AD=68:0;AB=0.00 GT=0/1;AD=20:25;AB=0.56 LIPE,LIPE-AS1,LOC101930071 NM_005357.3,NR_126041.1,NR_073180.1 missense_variant,intron_variant,intron_variant|-|- p.Ile706Thr,.,.|-|- c.2117T>C,n.98-1064A>G,n.77+9970A>G|-|- 6/10,1/1,1/2|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Lipodystrophy,_familial_partial,_type_6,_615980_(3),_Autosomal_recessive,.,. AR,.,. . . . . . 19.94 0.081 4.72 89,.,. 1.008,.,. 0.000,.,. . . .
chr19:43430844 G/A chr19:g.43430844G>A . GT=0/1;AD=96:67;AB=0.41 GT=0/1;AD=53:41;AB=0.44 GT=0/0;AD=75:1;AB=0.01 PSG7 NM_002783.2,NM_001206650.1,NM_001290042.1 missense_variant,missense_variant,missense_variant|-|- p.Thr245Ile,p.Thr123Ile,p.Thr64Ile|-|- c.734C>T,c.368C>T,c.191C>T|-|- 4/6,3/5,4/6|-|- False True no no rs144994700 56 140 196 140 0.0043 0.00116 0.00080 0.00455 2 1 . . . . . . . . . . 89,89,89 . . . . .
chr19:43772309 G/C chr19:g.43772309G>C . GT=0/1;AD=53:58;AB=0.52 GT=0/1;AD=42:25;AB=0.37 GT=0/0;AD=47:0;AB=0.00 PSG9 NM_002784.4,NM_001301707.1,NM_001301708.1,NM_001301709.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.65-8C>G,c.65-8C>G,c.65-8C>G,c.65-8C>G|-|-|- 1/5,1/4,1/4,1/3|-|-|- False True no no rs187187238 43 124 193 128 0.0033 0.00109 0.00087 0.00414 2 1 . . . . . . . . . . .,.,.,. -2.971 0.000 . . .
chr19:44117840 C/T chr19:g.44117840C>T . GT=0/1;AD=257:140;AB=0.35 GT=0/0;AD=166:0;AB=0.00 GT=0/1;AD=139:53;AB=0.28 SRRM5,ZNF428 NM_001145641.1,NM_182498.3 stop_gained,intron_variant|- p.Arg523*,.|- c.1567C>T,c.76+541G>A|- 1/1,2/2|- True True no no rs756714810 0 1 1 1 0.0000 0.00005 0.00001 0.00003 2 0 . . . . . . . 6.036 . 0.696 .,. 1.166,0.715 .,0.478 . . .
chr19:44570756 CATT/C chr19:g.44570757_44570759delATT . GT=0/1;AD=85:68;AB=0.44 GT=0/0;AD=80:0;AB=0.00 GT=0/1;AD=33:30;AB=0.48 ZNF223 NM_013361.5 conservative_inframe_deletion p.Tyr260del c.778_780delTAT 5/5 False True no no rs780795885 5 22 42 4 0.0004 0.00018 0.00017 0.00013 2 0 . . . . . . . . . . . 0.322 0.000 . . .
chr19:46526266 G/A chr19:g.46526266G>A . GT=0/1;AD=59:67;AB=0.53 GT=0/0;AD=95:0;AB=0.00 GT=0/1;AD=33:30;AB=0.48 PGLYRP1 NM_005091.2 missense_variant p.Ser5Phe c.14C>T 1/3 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 1.653 0.001 -4.88 155 0.467 0.000 . . .
chr19:50099793 G/A chr19:g.50099793G>A . GT=0/1;AD=67:59;AB=0.47 GT=0/1;AD=38:56;AB=0.60 GT=0/0;AD=70:0;AB=0.00 PRR12 NM_020719.2 missense_variant p.Arg734Gln c.2201G>A 4/14 False True no no rs368869078 1 21 40 7 0.0001 0.00022 0.00017 0.00023 2 0 . . . . . . . 22.5 0.992 3.56 43 3.368 1.000 . . .
chr19:50154216 CTCCTCTGCAT/C chr19:g.50154217_50154226delTCCTCTGCAT . GT=0/1;AD=84:13;AB=0.13 GT=0/1;AD=51:5;AB=0.09 GT=0/0;AD=47:0;AB=0.00 SCAF1 NM_021228.2 frameshift_variant p.Ser191fs c.571_580delTCCTCTGCAT 7/11 True True no no rs373203311 . . 11 1 0.0000 0.00000 0.00006 0.00003 5 0 . . . . . . . . . . . 1.591 0.998 . . .
chr19:51274722 A/T chr19:g.51274722A>T . GT=0/1;AD=174:23;AB=0.12 GT=0/0;AD=109:1;AB=0.01 GT=0/0;AD=78:7;AB=0.08 GPR32 NM_001506.2 missense_variant p.Ile289Phe c.865A>T 1/1 False True no no rs200540415 0 41 5 6 0.0000 0.00034 0.00002 0.00019 1 0 . . . . . . COSM1395555 0.378 0.0 -4.82 21 0.081 . . . .
chr19:51918674 T/C chr19:g.51918674T>C . GT=0/1;AD=82:94;AB=0.53 GT=0/0;AD=110:0;AB=0.00 GT=0/1;AD=34:49;AB=0.59 SIGLEC10 NM_033130.4,NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171161.1,NM_001322105.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|- p.Asn364Ser,p.Asn306Ser,p.Asn364Ser,p.Asn316Ser,p.Asn306Ser,p.Asn216Ser,p.Asn274Ser|-|-|-|-|-|- c.1091A>G,c.917A>G,c.1091A>G,c.947A>G,c.917A>G,c.647A>G,c.821A>G|-|-|-|-|-|- 7/11,7/11,7/10,7/10,7/10,6/9,6/9|-|-|-|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 4.017 0.998,0.942,0.972,0.974,0.966,0.966,0.799,0.991 2.39 46,46,46,46,46,46,46 1.090 0.000 . . .
chr19:52443568 A/G chr19:g.52443568A>G . GT=0/1;AD=49:50;AB=0.51 GT=0/0;AD=54:0;AB=0.00 GT=0/1;AD=18:13;AB=0.42 ZNF613 NM_001031721.3,NM_024840.3 missense_variant,missense_variant|- p.Tyr41Cys,p.Tyr5Cys|- c.122A>G,c.14A>G|- 4/6,4/6|- False True no no rs1468991599 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.9 1.0 2.29 194,194 0.383 0.001 . . .
chr19:53576679 G/A chr19:g.53576679G>A . GT=0/1;AD=93:70;AB=0.43 GT=0/1;AD=48:63;AB=0.57 GT=0/0;AD=94:0;AB=0.00 ZNF160 NM_001322125.1,NM_001322126.1,NM_001102603.1,NM_001322136.1,NM_001322128.1,NM_001322129.1,NM_001322130.1,NM_001322131.1,NM_001322132.1,NM_001322133.1,NM_001322134.1,NM_001322135.1,NM_001322137.1,NM_001322138.1,NM_001322139.1,NM_033288.3,NM_198893.2 missense_variant,missense_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant,intron_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- p.Arg119Cys,p.Arg119Cys,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- c.355C>T,c.355C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.271+714C>T,c.163+714C>T,c.163+714C>T,c.163+714C>T,c.271+714C>T,c.271+714C>T|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- 6/6,7/7,6/6,4/4,6/6,5/5,6/6,5/5,6/6,6/6,6/6,5/5,7/7,6/6,8/8,5/5,6/6|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- False True no no rs770832696 0 1 2 . 0.0000 0.00001 0.00001 0.00000 2 0 . . . . . . . 2.679 0.0 1.03 180,180,.,.,.,.,.,.,.,.,.,.,.,.,.,.,. 1.620 0.030 . . .
chr19:53854955 G/A chr19:g.53854955G>A . GT=0/1;AD=118:110;AB=0.48 GT=0/1;AD=76:70;AB=0.48 GT=0/0;AD=104:1;AB=0.01 ZNF845 NM_001321522.1,NM_001321523.1,NM_001321524.1,NM_138374.2 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Val343Met,p.Val343Met,p.Val343Met,p.Val343Met|-|-|- c.1027G>A,c.1027G>A,c.1027G>A,c.1027G>A|-|-|- 5/5,5/5,5/5,4/4|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 14.23 0.99 -3.99 21,21,21,21 0.048 0.001 . . .
chr19:55086410 C/T chr19:g.55086410C>T . GT=0/1;AD=160:127;AB=0.44 GT=0/1;AD=79:99;AB=0.56 GT=0/0;AD=116:0;AB=0.00 LILRA2 NM_001290271.1,NM_006866.3,NM_001130917.2,NM_001290270.1 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Arg189Cys,p.Arg189Cys,p.Arg189Cys,p.Arg177Cys|-|-|- c.565C>T,c.565C>T,c.565C>T,c.529C>T|-|-|- 5/9,5/8,4/8,3/6|-|-|- False True no no rs200966581 1 10 19 3 0.0001 0.00008 0.00008 0.00010 2 0 . . . . . . COSM4081331|COSM4081330 3.709 0.138,0.058,0.218,0.676 -0.702 180,180,180,180 -2.738 0.000 . chr19:55014133:55105745:DUP .
chr19:55316319 C/T chr19:g.55316319C>T . GT=0/1;AD=129:119;AB=0.48 GT=0/1;AD=61:63;AB=0.51 GT=0/0;AD=98:0;AB=0.00 KIR2DL4 NM_002255.5,NM_001080770.1,NM_001080772.1.2 missense_variant,missense_variant,missense_variant|-|- p.Arg50Trp,p.Arg50Trp,p.Arg50Trp|-|- c.148C>T,c.148C>T,c.148C>T|-|- 3/8,3/7,3/8|-|- False True no no rs372914780 2 3 18 . 0.0002 0.00003 0.00009 0.00000 2 0 . . . . . . COSM1001216|COSM1001215 1.102 0.047,0.038,0.058,0.056,0.104,0.015 -2.83 101,101,101 0.181 0.036 . . .
chr19:55497687 T/TG chr19:g.55497687_55497688insG . GT=0/1;AD=60:61;AB=0.50 GT=0/0;AD=77:0;AB=0.00 GT=0/1;AD=29:28;AB=0.49 NLRP2 NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3 splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant|-|-|- .,.,.,.|-|-|- c.2366+4_2366+5insG,c.2300+4_2300+5insG,c.2297+4_2297+5insG,c.2366+4_2366+5insG|-|-|- 8/12,7/11,9/13,8/12|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,.,.,. -2.404 0.000 Imprinted_genes . .
chr19:55703094 G/T chr19:g.55703094G>T . GT=0/1;AD=47:48;AB=0.51 GT=0/1;AD=23:24;AB=0.51 GT=0/0;AD=42:0;AB=0.00 PTPRH NM_002842.4,NM_001161440.2 missense_variant,missense_variant|- p.Ala758Asp,p.Ala580Asp|- c.2273C>A,c.1739C>A|- 11/20,9/18|- False True no no rs61734204 65 645 1422 190 0.0050 0.00534 0.00578 0.00614 2 3 . . . . . . . 22.9 0.483,0.728 3.37 126,126 -0.806 0.000 . . .
chr19:56029970 T/TTCC chr19:g.56029970_56029971insTCC . GT=0/1;AD=76:9;AB=0.11 GT=0/0;AD=39:2;AB=0.05 GT=0/0;AD=54:0;AB=0.00 SSC5D NM_001144950.1 disruptive_inframe_insertion p.Ser1443delinsPhePro c.4327_4328insTCC 14/14 False True yes no rs1323614552 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . 74 1.845 0.000 . . .
chr19:56153890 C/T chr19:g.56153890C>T . GT=0/1;AD=57:50;AB=0.47 GT=0/0;AD=70:1;AB=0.01 GT=0/1;AD=29:22;AB=0.43 ZNF580 NM_001163423.1,NM_207115.1,NM_016202.2 missense_variant,missense_variant,missense_variant|-|- p.Pro6Ser,p.Pro6Ser,p.Pro6Ser|-|- c.16C>T,c.16C>T,c.16C>T|-|- 2/2,2/2,1/1|-|- False True no no rs138742547 10 102 130 24 0.0009 0.00104 0.00111 0.00078 2 1 . . . . . . . 22.1 0.347 3.86 74,74,74 1.193 0.535 . . .
chr19:56244721 G/GT chr19:g.56244721_56244722insT . GT=0/1;AD=77:75;AB=0.49 GT=0/1;AD=57:43;AB=0.43 GT=0/0;AD=73:1;AB=0.01 NLRP9 NM_176820.3 frameshift_variant p.Thr159fs c.475dupA 2/9 True True no no rs778552951 0 2 7 . 0.0000 0.00002 0.00003 0.00000 2 0 . . . . . . . . . . . -0.606 0.000 . . .
chr19:58352469 A/G chr19:g.58352469A>G . GT=0/1;AD=89:54;AB=0.38 GT=0/0;AD=93:0;AB=0.00 GT=0/1;AD=26:20;AB=0.43 ZNF587B NM_001204818.1 missense_variant p.Ile143Val c.427A>G 3/4 False True no no rs573926313 0 20 38 4 0.0000 0.00017 0.00015 0.00013 2 1 . . . . . . . 1.231 0.046,0.006 -4.33 29 -0.361 0.000 . . .
chr19:59023213 A/C chr19:g.59023213A>C . GT=0/1;AD=54:69;AB=0.56 GT=0/1;AD=42:35;AB=0.46 GT=0/0;AD=46:0;AB=0.00 SLC27A5 NM_012254.2,NM_001321196.1 missense_variant,missense_variant|- p.Leu37Arg,p.Leu37Arg|- c.110T>G,c.110T>G|- 1/10,1/10|- False True no no rs146147877 53 49 183 137 0.0041 0.00260 0.00118 0.00444 2 0 . . . . . Benign . 14.08 0.983 4.31 102,102 0.450 0.000 . . .
chr20:30053322 T/G chr20:g.30053322T>G . GT=0/1;AD=54:57;AB=0.51 GT=0/1;AD=43:32;AB=0.43 GT=0/0;AD=57:1;AB=0.02 DEFB124 NM_001037500.1 missense_variant p.His68Pro c.203A>C 2/2 False True no no rs148140130 46 261 604 84 0.0035 0.00215 0.00246 0.00271 2 1 . . . . . . . 0.001 0.0 -7.75 77 0.468 0.106 . . .
chr20:31626754 C/T chr20:g.31626754C>T . GT=0/1;AD=47:48;AB=0.51 GT=0/1;AD=36:33;AB=0.48 GT=0/0;AD=56:0;AB=0.00 BPIFB6 NM_174897.2 missense_variant p.Arg296Cys c.886C>T 9/15 False True no no rs150580944 7 78 140 10 0.0005 0.00064 0.00057 0.00032 2 1 . . . . . . . 23.9 0.7 -3.18 180 -0.261 0.000 . . .
chr20:33880044 G/A chr20:g.33880044G>A . GT=0/1;AD=76:83;AB=0.52 GT=0/1;AD=50:41;AB=0.45 GT=0/0;AD=68:0;AB=0.00 FAM83C NM_178468.5 missense_variant p.Arg22Trp c.64C>T 1/4 False True no no rs377344891 2 2 10 1 0.0002 0.00006 0.00006 0.00003 2 0 . . . . . . . 17.94 1.0 2.63 101 -0.163 0.000 . . .
chr20:36641471 C/T chr20:g.36641471C>T . GT=0/1;AD=57:72;AB=0.56 GT=0/1;AD=50:31;AB=0.38 GT=0/0;AD=61:0;AB=0.00 TTI1 NM_001303457.1,NM_014657.2 missense_variant,missense_variant|- p.Glu250Lys,p.Glu250Lys|- c.748G>A,c.748G>A|- 2/8,3/9|- False True no no rs141259940 8 43 94 8 0.0006 0.00035 0.00038 0.00026 3 0 . . . DM? "Developmental_delay_infantile_spasms_abnormal_sulcation/gyration_cerebral_atrophy_hypotonia_&_facial_abnormalities" . . 23.1 0.029 5.45 56,56 0.326 0.000 . . .
chr20:37659414 C/T chr20:g.37659414C>T . GT=0/1;AD=65:82;AB=0.56 GT=0/0;AD=81:0;AB=0.00 GT=0/1;AD=28:26;AB=0.48 DHX35 NM_021931.3,NM_001190809.1,NR_033905.1 missense_variant,missense_variant,non_coding_transcript_exon_variant|-|- p.Arg651Cys,p.Arg620Cys,.|-|- c.1951C>T,c.1858C>T,n.2001C>T|-|- 20/22,19/21,20/22|-|- False True no no rs149376135 4 54 140 7 0.0003 0.00044 0.00057 0.00023 2 0 . . . . . . COSM6643571 35 0.958,0.996 5.76 180,180,. 0.567 0.000 . . .
chr20:42745034 G/A chr20:g.42745034G>A . GT=0/1;AD=43:37;AB=0.46 GT=0/0;AD=58:0;AB=0.00 GT=0/1;AD=26:23;AB=0.47 JPH2 NM_020433.4 splice_region_variant&intron_variant . c.1289-8C>T 3/5 False True no no rs1487982810 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 Cardiomyopathy,_hypertrophic,_17,_613873_(3),_Autosomal_dominant AD . . . . . . . . . 2.120 0.000 . . .
chr20:45179196 G/A chr20:g.45179196G>A . GT=0/1;AD=75:53;AB=0.41 GT=0/1;AD=39:38;AB=0.49 GT=0/0;AD=43:0;AB=0.00 OCSTAMP NM_080721.2 missense_variant p.Pro2Ser c.4C>T 1/3 False True no no rs536454073 . . 10 . 0.0000 0.00000 0.00007 0.00000 2 0 . . . . . . COSM4134601|COSM4134600 10.10 0.118 3.04 74 1.822 0.001 . . .
chr20:48808062 CCCGCCG/C chr20:g.48808063_48808068delCCGCCG . GT=0/1;AD=53:29;AB=0.35 GT=0/1;AD=31:25;AB=0.45 GT=0/0;AD=52:1;AB=0.02 CEBPB,CEBPB-AS1 NM_005194.3,NM_001285878.1,NM_001285879.1,NR_125739.1 disruptive_inframe_deletion,disruptive_inframe_deletion,5_prime_UTR_variant,intron_variant|-|-|- p.Pro169_Pro170del,p.Pro146_Pro147del,.,.|-|-|- c.504_509delGCCGCC,c.435_440delGCCGCC,c.-91_-86delGCCGCC,n.407-109_407-104delCGGCGG|-|-|- 1/1,1/1,1/1,1/6|-|-|- False True no no rs764528257 . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . . . . .,.,.,. 1.106,. 0.351,. . . .
chr20:62597996 T/C chr20:g.62597996T>C . GT=0/1;AD=73:100;AB=0.58 GT=0/0;AD=111:0;AB=0.00 GT=0/1;AD=29:34;AB=0.54 ZNF512B NM_020713.2 missense_variant p.Arg178Gly c.532A>G 5/17 False True no no rs150966051 69 615 1135 150 0.0053 0.00512 0.00462 0.00485 2 2 . . . . . . . 22.9 0.454 2.55 125 2.021 1.000 . . .
chr21:10933873 T/C chr21:g.10933873T>C . GT=0/1;AD=214:41;AB=0.16 GT=0/0;AD=205:0;AB=0.00 GT=0/1;AD=50:15;AB=0.23 TPTE NM_199261.3,NM_001290224.1,NM_199259.3,NM_199260.3 missense_variant,missense_variant,missense_variant,missense_variant|-|-|- p.Ile336Val,p.Ile198Val,p.Ile318Val,p.Ile298Val|-|-|- c.1006A>G,c.592A>G,c.952A>G,c.892A>G|-|-|- 17/24,12/19,16/23,15/22|-|-|- False True no yes rs751667955 0 2 0 . 0.0000 0.00002 0.00000 0.00000 2 0 . . . . . . . 9.002 0.24,0.389,0.206 -0.371 29,29,29,29 -0.690 0.000 . . .
chr21:10951419 C/T chr21:g.10951419C>T . GT=0/1;AD=151:59;AB=0.28 GT=0/1;AD=98:36;AB=0.27 GT=0/0;AD=99:0;AB=0.00 TPTE NM_199261.3,NM_199259.3,NM_199260.3,NM_001290224.1 missense_variant,missense_variant,missense_variant,5_prime_UTR_variant|-|-|- p.Gly98Glu,p.Gly80Glu,p.Gly60Glu,.|-|-|- c.293G>A,c.239G>A,c.179G>A,c.-122G>A|-|-|- 10/24,9/23,8/22,5/19|-|-|- False True no yes rs746535199;rs144392668 0 32 76 3 0.0000 0.00026 0.00031 0.00010 2 0 . . . . . . . 22.9 1.0,1.0,1.0 0.829 98,98,98,. -0.690 0.000 . . .
chr21:33732154 T/C chr21:g.33732154T>C . GT=0/1;AD=80:83;AB=0.51 GT=0/0;AD=87:0;AB=0.00 GT=0/1;AD=28:38;AB=0.58 URB1 NM_014825.2 missense_variant p.Lys607Arg c.1820A>G 14/39 False True no no rs1272098729 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 16.89 0.22 4.84 26 2.172 0.000 . . .
chr21:34837723 C/T chr21:g.34837723C>T . GT=0/1;AD=70:62;AB=0.47 GT=0/1;AD=32:36;AB=0.53 GT=0/0;AD=54:0;AB=0.00 TMEM50B NM_006134.6,NR_040016.1 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.213-7G>A,n.426-7G>A|- 3/6,3/8|- False True no no rs8130421 91 245 406 202 0.0070 0.00203 0.00168 0.00652 2 0 . . . . . . . . . . .,. 0.864 0.030 . . .
chr21:35742802 C/G chr21:g.35742802C>G . GT=0/1;AD=70:49;AB=0.41 GT=0/1;AD=41:36;AB=0.47 GT=0/0;AD=53:0;AB=0.00 KCNE2 NM_172201.1 missense_variant p.Gln9Glu c.25C>G 2/2 False True no no rs16991652 73 176 281 141 0.0056 0.00145 0.00114 0.00455 2 0 Atrial_fibrillation,_familial,_4,_611493_(3)|Long_QT_syndrome_6,_613693_(3),_Autosomal_dominant .|AD . DM "Cardiac_arrhythmia" Benign . 11.41 0.0 4.63 29 0.184 0.000 . . .
chr21:44182287 G/A chr21:g.44182287G>A . GT=0/1;AD=65:80;AB=0.55 GT=0/1;AD=30:34;AB=0.53 GT=0/0;AD=60:0;AB=0.00 PDE9A NM_002606.2,NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_001315533.1 missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant,missense_variant|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- p.Ala394Thr,p.Ala334Thr,p.Ala267Thr,p.Ala266Thr,p.Ala341Thr,p.Ala293Thr,p.Ala187Thr,p.Ala187Thr,p.Ala308Thr,p.Ala234Thr,p.Ala177Thr,p.Ala260Thr,p.Ala292Thr,p.Ala187Thr,p.Ala177Thr,p.Ala327Thr,p.Ala353Thr,p.Ala368Thr,p.Ala187Thr,p.Ala187Thr,p.Ala286Thr|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- c.1180G>A,c.1000G>A,c.799G>A,c.796G>A,c.1021G>A,c.877G>A,c.559G>A,c.559G>A,c.922G>A,c.700G>A,c.529G>A,c.778G>A,c.874G>A,c.559G>A,c.529G>A,c.979G>A,c.1057G>A,c.1102G>A,c.559G>A,c.559G>A,c.856G>A|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- 14/20,13/19,11/17,10/16,13/19,12/18,10/16,11/17,12/18,9/15,9/15,10/16,11/17,11/17,8/14,12/18,13/19,13/19,12/18,12/18,14/20|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|- False True no no rs140836666 21 118 245 72 0.0016 0.00097 0.00100 0.00233 2 0 . . . . . . . 12.17 0.003,0.101,0.003,0.001,0.003,0.025,0.039,0.003,0.003,0.003,0.001,0.025,0.118,0.003,0.003,0.004 1.91 58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58 1.165 0.003 . . .
chr22:19184171 G/C chr22:g.19184171G>C . GT=0/1;AD=47:35;AB=0.43 GT=0/0;AD=43:0;AB=0.00 GT=0/1;AD=19:23;AB=0.55 CLTCL1 NM_007098.3,NM_001835.3 splice_region_variant&intron_variant,splice_region_variant&intron_variant|- .,.|- c.3874-4C>G,c.3874-4C>G|- 24/32,24/31|- False True no no rs184612047 27 142 349 33 0.0021 0.00146 0.00146 0.00107 2 0 . . . . . Uncertain_significance . . . . .,. 0.947 0.000 . . .
chr22:24236971 C/T chr22:g.24236971C>T . GT=0/1;AD=83:82;AB=0.50 GT=0/0;AD=86:0;AB=0.00 GT=0/1;AD=38:31;AB=0.45 MIF,MIF-AS1 NM_002415.1,NR_038911.1 missense_variant,non_coding_transcript_exon_variant|- p.His41Tyr,.|- c.121C>T,n.1118G>A|- 2/3,3/3|- False True no no rs202066662 . . 0 . 0.0000 0.00000 0.00000 0.00000 2 0 {Rheumatoid_arthritis,_systemic_juvenile,_susceptibility_to},_604302_(3),. . . . . . . 22.2,22.2 .,0.996 4.83,4.83 83,. -0.168,. 0.012,. . . .
chr22:26423285 C/T chr22:g.26423285C>T . GT=0/1;AD=86:84;AB=0.49 GT=0/0;AD=119:0;AB=0.00 GT=0/1;AD=34:41;AB=0.55 MYO18B NM_001318245.1,NM_032608.6 missense_variant,missense_variant|- p.Arg2450Trp,p.Arg2449Trp|- c.7348C>T,c.7345C>T|- 43/44,43/44|- False True no no rs149103381 52 586 1134 136 0.0042 0.00485 0.00461 0.00439 2 0 Klippel-Feil_syndrome_4,_autosomal_recessive,_with_myopathy_and_facial_dysmorphism,_616549_(3),_Autosomal_recessive AR . . . Uncertain_significance COSM3552897 29.4 1.0,1.0,1.0,1.0,1.0 2.9 101,101 0.471 0.000 . . .
chr22:30518166 G/A chr22:g.30518166G>A . GT=0/1;AD=85:63;AB=0.43 GT=0/0;AD=89:0;AB=0.00 GT=0/1;AD=31:30;AB=0.49 HORMAD2 NM_001329457.1,NM_001329458.1,NM_152510.3 missense_variant,missense_variant,missense_variant|-|- p.Gly261Asp,p.Gly173Asp,p.Gly261Asp|-|- c.782G>A,c.518G>A,c.782G>A|-|- 11/12,9/10,10/11|-|- False True no no rs181903593 24 275 541 82 0.0020 0.00241 0.00221 0.00265 2 0 . . . . . . COSM3553247 24.0 1.0 4.95 94,94,94 0.724 0.001 . . .
chr22:31342360 G/A chr22:g.31342360G>A . GT=0/1;AD=59:57;AB=0.49 GT=0/0;AD=73:0;AB=0.00 GT=0/0;AD=45:0;AB=0.00 MORC2 NM_001303256.2,NM_001303257.2,NM_014941.3 missense_variant,missense_variant,missense_variant|-|- p.Arg132Cys,p.Arg132Cys,p.Arg70Cys|-|- c.394C>T,c.394C>T,c.208C>T|-|- 6/26,6/26,7/27|-|- False True yes no rs1064795559 . . . . 0.0000 0.00000 0.00000 0.00000 1 0 Charcot-Marie-Tooth_disease,_axonal,_type_2Z,_616688_(3),_Autosomal_dominant AD . . . Likely_pathogenic . 26.5 1.0 5.15 180,180,180 3.300 1.000 . . developmentalDisorder:1
chr22:37271714 C/T chr22:g.37271714C>T . GT=0/1;AD=78:71;AB=0.48 GT=0/0;AD=106:0;AB=0.00 GT=0/1;AD=30:30;AB=0.50 NCF4 NM_013416.3,NM_000631.4 missense_variant,missense_variant|- p.Thr216Met,p.Thr216Met|- c.647C>T,c.647C>T|- 8/9,8/10|- False True no no rs146911421 11 78 150 29 0.0008 0.00065 0.00061 0.00094 2 1 ?Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_III,_613960_(3),_Autosomal_recessive AR . . . Uncertain_significance . 29.1 0.999,0.998 3.42 81,81 -0.136 0.000 . . .
chr22:40391038 C/T chr22:g.40391038C>T . GT=0/1;AD=53:47;AB=0.47 GT=0/1;AD=24:31;AB=0.56 GT=0/0;AD=65:0;AB=0.00 FAM83F NM_138435.2 5_prime_UTR_premature_start_codon_gain_variant|- .|- c.-9C>T|- 1/5|- False True no no rs753832066 0 0 2 8 0.0000 0.00000 0.00284 0.00027 2 0 . . . . . . . . . . .,. 1.124 0.000 . . .
chr22:41574269 G/A chr22:g.41574269G>A . GT=0/1;AD=79:83;AB=0.51 GT=0/1;AD=43:60;AB=0.58 GT=0/0;AD=82:0;AB=0.00 EP300 NM_001429.3 missense_variant p.Arg2185Gln c.6554G>A 31/31 False True no no rs1413325383 . . 3 . 0.0000 0.00000 0.00001 0.00000 2 0 Colorectal_cancer,_somatic,_114500_(3)|Rubinstein-Taybi_syndrome_2,_613684_(3),_Autosomal_dominant .|AD . . . . . 13.43 0.002 2.64 43 2.224 1.000 . . .
chr22:42394796 A/G chr22:g.42394796A>G . GT=0/1;AD=32:44;AB=0.58 GT=0/1;AD=21:30;AB=0.59 GT=0/0;AD=29:0;AB=0.00 WBP2NL NM_152613.2 5_prime_UTR_premature_start_codon_gain_variant|- .|- c.-27A>G|- 1/6|- False True no no rs376478525 1 8 17 2 0.0001 0.00008 0.00007 0.00007 2 0 . . . . . . . . . . .,. 0.366 0.000 . . .
chr22:50301492 G/A chr22:g.50301492G>A . GT=0/1;AD=103:81;AB=0.44 GT=0/1;AD=48:51;AB=0.52 GT=0/0;AD=77:0;AB=0.00 ALG12 NM_024105.3 missense_variant p.Ala290Val c.869C>T 7/10 False True no no rs201508940 1 8 13 . 0.0001 0.00007 0.00005 0.00000 2 0 Congenital_disorder_of_glycosylation,_type_Ig,_607143_(3),_Autosomal_recessive AR . . . Uncertain_significance COSM5974431 5.378 0.001 -3.01 64 0.007 0.000 . . .
chr22:50616622 G/GC chr22:g.50616622_50616623insC . GT=0/1;AD=87:18;AB=0.17 GT=0/0;AD=84:3;AB=0.03 GT=0/0;AD=55:1;AB=0.02 PANX2 NM_052839.3,NM_001160300.1,NR_027691.1 frameshift_variant,frameshift_variant,non_coding_transcript_exon_variant|-|- p.Ala496fs,p.Ala496fs,.|-|- c.1485dupC,c.1485dupC,n.1536dupC|-|- 2/3,2/4,3/5|-|- True True yes yes . . . 131 . 0.0000 0.00000 0.00222 0.00000 1 0 . . . . . . . . . . .,.,. 3.548 0.000 . . .
chr22:50616633 G/T,C chr22:g.50616633G>T,chr22:g.50616633G>C Multiallelic GT=0/2;AD=94:0:13;AB=0.00:0.12 GT=0/0;AD=65:6:6;AB=0.08:0.08 GT=0/0;AD=44:2:0;AB=0.04:0.00 PANX2 NM_052839.3,NM_001160300.1,NR_027691.1 -|missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|-|- -|p.Ala498Ser,p.Ala498Ser,.|-|-|-|- -|c.1492G>T,c.1492G>T,n.1543G>T|-|-|-|- -|2/3,2/4,3/5|-|-|-|- False True no yes . .,. .,. 56,139 .,. 0.0000:0.0000 0.00000:0.00000 0.00142:0.00352 0.00000:0.00000 2:2 0:0 . . . . . . . 0.164,0.132 0.0,0.0,0.018,0.037 -2.6,-2.6 27,99,27,99,.,. 3.548 0.000 . . .
chrX:11157033 C/G chrX:g.11157033C>G . GT=0/1;AD=117:112;AB=0.49 GT=0/0;AD=57:0;AB=0.00 GT=0/1;AD=46:42;AB=0.48 ARHGAP6 NM_013427.2,NM_013423.2,NM_001287242.1,NR_109776.1 missense_variant,missense_variant,missense_variant,non_coding_transcript_exon_variant|-|-|- p.Glu959Gln,p.Glu756Gln,p.Glu779Gln,.|-|-|- c.2875G>C,c.2266G>C,c.2335G>C,n.3934G>C|-|-|- 13/13,13/13,13/13,15/15|-|-|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 22.6 0.615,0.441 5.51 29,29,29,. 1.998 0.999 . . .
chrX:24833074 GT/G,GTT,GTTTTTTTTTTTTTTTT chrX:g.24833075delT,chrX:g.24833075delT,chrX:g.24833075delT Multiallelic GT=0/3;AD=4:3:0:3;AB=0.30:0.00:0.30 GT=0/0;AD=0:0:0:0;AB=0.00:0.00:0.00 GT=0/0;AD=12:0:0:0;AB=0.00:0.00:0.00 POLA1 NM_016937.3 -|-|splice_region_variant&intron_variant -|-|. -|-|c.3279-19_3279-5dupTTTTTTTTTTTTTTT -|-|29/36 False True no no rs765229506;rs201295269 .,.,. .,.,. .,.,. 22,852,4 0.0000:0.0000:0.0000 0.00000:0.00000:0.00000 0.00000:0.00000:0.00000 0.00242:0.09376:0.00044 2:2:2 27:11:0 Pigmentary_disorder,_reticulate,_with_systemic_manifestations,_X-linked,_301220_(3),_X-linked_recessive XLR . . . . . . . . .,.,. 2.066 1.000 . . .
chrX:54473824 C/A chrX:g.54473824C>A . GT=0/1;AD=98:96;AB=0.49 GT=1/1;AD=0:36;AB=1.00 GT=0/0;AD=88:0;AB=0.00 FGD1 NM_004463.2 missense_variant p.Gly834Cys c.2500G>T 17/18 False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 Aarskog-Scott_syndrome,_305400_(3),_X-linked_recessive|Mental_retardation,_X-linked_syndromic_16,_305400_(3),_X-linked_recessive XLR|XLR . . . . . 22.4 0.998 5.33 159 3.533 0.999 . . .
chrX:106092450 ATTT/AT,ATT,ATTTTTTTTT,A chrX:g.106092451_106092453delTTT,chrX:g.106092451_106092453delTTT,chrX:g.106092451_106092453delTTT,chrX:g.106092451_106092453delTTT Multiallelic GT=0/3;AD=7:0:0:5:0;AB=0.00:0.00:0.42:0.00 GT=0/0;AD=3:3:3:3:3;AB=0.20:0.20:0.20:0.20 GT=0/2;AD=2:0:2:0:0;AB=0.00:0.50:0.00:0.00 TBC1D8B NM_198881.1,NM_017752.2 -|splice_region_variant&intron_variant,intron_variant|splice_region_variant&intron_variant,intron_variant|-|-|-|-|- -|.,.|.,.|-|-|-|-|- -|c.1838-5_1838-3delTTT,c.1838-785_1838-783delTTT|c.1838-4_1838-3delTT,c.1838-784_1838-783delTT|-|-|-|-|- -|11/11,11/20|11/11,11/20|-|-|-|-|- False True no no rs776611009;rs761948032 .,.,.,. .,.,.,. .,.,.,. 632,490,.,64 0.0000:0.0000:0.0000:0.0000 0.00000:0.00000:0.00000:0.00000 0.00000:0.00000:0.00000:0.00000 0.06262:0.04855:0.00000:0.00634 6:13:2:3 6:4:0:5 . . . . . . . . . . .,.,.,.,.,.,.,. 0.215 0.000 . . .
chrX:119500446 C/T chrX:g.119500446C>T . GT=0/1;AD=104:107;AB=0.51 GT=0/0;AD=65:0;AB=0.00 GT=0/1;AD=45:37;AB=0.45 ATP1B4 NM_001142447.2,NM_012069.4 missense_variant,missense_variant|- p.Arg44Trp,p.Arg44Trp|- c.130C>T,c.130C>T|- 2/8,2/8|- False True no no rs374060545 1 4 8 2 0.0001 0.00005 0.00005 0.00010 2 0 . . . . . . . 24.0 0.83,0.83,0.946,0.968 3.6 101,101 0.270 0.000 . . .
chrX:134186089 C/T chrX:g.134186089C>T . GT=0/1;AD=119:100;AB=0.46 GT=1/1;AD=0:52;AB=1.00 GT=0/0;AD=126:0;AB=0.00 FAM127B NM_001078172.1,NM_001134321.1 missense_variant,missense_variant|- p.Arg17Gln,p.Arg17Gln|- c.50G>A,c.50G>A|- 1/1,1/2|- False True no no . . . . . 0.0000 0.00000 0.00000 0.00000 2 0 . . . . . . . 10.98 0.951,0.272 1.5 43,43 0.001 0.451 . . .
chrX:153207399 T/C chrX:g.153207399T>C . GT=0/1;AD=79:14;AB=0.15 GT=0/0;AD=31:11;AB=0.26 GT=0/0;AD=24:16;AB=0.40 RENBP NM_002910.5 splice_region_variant&intron_variant . c.769+4A>G 7/10 False True no no . . . 44 4 0.0000 0.00000 0.00030 0.00044 5 0 . . . . . . COSM5965883|COSM5965882 . . . . 0.793 0.462 . . .