chr1:150547289 G 648563 1 150547289 G>>>A exon 648563 N N N N N N N 4 N N 1 ns:FLG-001_an:dbsnp130_ chr1:52116643 G 16825347 1 52116643 A>>>C exon 16825347 N N N N N N N 4 N N 1 ns:NRD1-001_ns:NRD1-002_ chr1:17143241 G 62488994 1 17143241 G>>>C exon 62488994 N N N N N N N 5 N N 1 ns:CROCC-001_an:nature08795_ chr1:177344039 S 70666987 1 177344039 G>>>C exon 70666987 N N N N N N N 6(16/39) N N 1 ns:ABL2-001_ns:ABL2-002_ns:ABL2-201_ns:ABL2-202_ chr1:16764804 G 79811696 1 16764804 C>>>T exon 79811696 N N N 229 50 N N 282 N N 3 ns:NBPF1-205_ chr1:16764808 G 79812631 1 16764808 T>>>C exon 79812631 N N N 215 48 N N 278 29 N 4 ns:NBPF1-205_ chr1:201044320 G 79819020 1 201044320 G>>>C exon 79819020 N N N 2 N 2 N 12 N N 3 ns:JARID1B-201_ chr1:870001 S 80291612 1 870001 A>>>C exon 80291612 N N N N N N N 6 N N 1 ns:NOC2L-001_ chr1:12777591 G 80292032 1 12777591 C>>>T exon 80292032 N N N N N N N 10 N N 1 ns:PRAMEF1-002_ns:PRAMEF1-202_ chr1:41008777 S 80292214 1 41008777 C>>>G exon 80292214 N N N N N N N 4 N N 1 ns:NFYC-201_ns:NFYC-004_ns:NFYC-007_ chr1:180635687 S 80296841 1 180635687 G>>>T exon 80296841 N N N N N N N 4 N N 1 ns:TEDDM1-001_ chr1:150547295 G 80296852 1 150547295 A>>>C exon 80296852 N N N N N N N 4 N N 1 ns:FLG-001_ chr1:151657322 S 80297090 1 151657322 G>>>C exon 80297090 N N N N N N N 4 N N 1 ns:S100A7A-003_ns:S100A7A-001_ns:S100A7A-002_ chr1:150547312 G 80297615 1 150547312 A>>>G exon 80297615 N N N N N N N 4 N N 1 ns:FLG-001_ chr1:150547309 G 80297620 1 150547309 C>>>A exon 80297620 N N N N N N N 4 N N 1 ns:FLG-001_ chr1:159962475 S 80297815 1 159962475 C>>>T exon 80297815 N N N N N N N 4 N N 1 ns:FCRLB-001_ns:FCRLB-003_ns:FCRLB-004_ns:FCRLB-005_ns:FCRLB-006_ns:FCRLB-201_ chr1:150547315 G 80298140 1 150547315 A>>>T exon 80298140 N N N N N N N 4 N N 1 ns:FLG-001_ns:FLG-203_ chr1:182152316 S 80298736 1 182152316 C>>>A exon 80298736 N N N N N N N 4 N N 1 ns:RGL1-201_ns:RGL1-001_ns:RGL1-002_ chr10:51031791 G 1343549 10 51031791 T>>>C exon 1343549 N N N 15 12 N N 4 N N 3 ns:PARG-203_ns:PARG-204_syn:PARG-202_an:dbsnp129_an:dbsnp130_ chr10:16983369 S 70670448 10 16983369 C>>>T exon 70670448 N N N N N N N 24(3/7) N N 1 ns:CUBN-001_ chr10:84579 G 79960496 10 84579 A>>>G exon 79960496 N N N N 4 N N 4 N N 2 ns:RP11-631M21.2-201_ns:RP11-631M21.2-004_syn:RP11-631M21.2-002_ chr10:123913440 S 80308770 10 123913440 C>>>A exon 80308770 N N N N N N N 4 N N 1 ns:TACC2-018_ns:TACC2-017_ns:TACC2-204_ chr11:69711723 G 77670356 11 69711723 G>>>T exon 77670356 N N N N N N N 7(6/16) N N 1 ns:ANO1-203_ns:ANO1-202_ns:ANO1-204_ chr11:1954123 G 80307134 11 1954123 T>>>A exon 80307134 N N N N N N N 7 N N 1 ns:AC051649.21-201_ chr11:11986581 G 80310087 11 11986581 T>>>G exon 80310087 N N N N N N N 4 N N 1 ns:DKK3-203_ns:DKK3-202_ chr11:60537970 G 80312808 11 60537970 T>>>C exon 80312808 N N N N N N N 8 N N 1 ns:CD6-201_ns:CD6-203_ chr11:47325994 S 80312952 11 47325994 A>>>G exon 80312952 N N N N N N N 4 N N 1 ns:MYBPC3-202_ns:MYBPC3-201_ chr11:72700188 G 80313729 11 72700188 T>>>C exon 80313729 N N N N N N N 4 N N 1 ns:ARHGEF17-201_ chr11:63875588 S 80313750 11 63875588 T>>>C exon 80313750 N N N N N N N 5 N N 1 syn:CCDC88B-202_ns:CCDC88B-203_ns:AP003774.2-001_ns:AP003774.2-005_ chr11:55517749 G 80313793 11 55517749 G>>>T exon 80313793 N N N N N N N 17 N N 1 ns:OR5F1-201_ chr11:89248614 G 80315545 11 89248614 A>>>C exon 80315545 N N N N N N N 4 N N 1 ns:AP005435.2-201_ chr11:106084598 S 80316379 11 106084598 C>>>A exon 80316379 N N N N N N N 4 N N 1 ns:GUCY1A2-202_ns:GUCY1A2-201_ chr12:11397967 G 49855257 12 11397967 G>>>A exon 49855257 N N N N N N N 7 N N 1 ns:PRB1-207_ns:PRB1-204_ns:PRB1-205_an:nature08795_ chr12:48560195 G 77070369 12 48560195 A>>>T exon 77070369 N N N N N N N 6 N N 1 ns:AC131157.4-201_ns:AC131157.4-202_ chr12:6804959 S 80318299 12 6804959 T>>>C exon 80318299 N N N N N N N 4 N N 1 ns:GPR162-201_ns:GPR162-202_ chr12:110232867 S 80323897 12 110232867 G>>>T exon 80323897 N N N N N N N 4 N N 1 ns:CUX2-201_ chr13:109235803 ? 71144881 13 109235803 A>>>C exon 71144881 N N N N N N N N(7/15) N 4 1 ns:IRS2-001_ chr13:36471379 G 77675729 13 36471379 A>>>G exon 77675729 N N N N N N N 4(5/21) N N 1 ns:ALG5-001_ chr13:66698590 G 79982438 13 66698590 T>>>G exon 79982438 N N N N 7 N N 11 N N 2 ns:PCDH9-002_ns:PCDH9-003_ns:PCDH9-001_ chr14:20967040 S 70691248 14 20967040 G>>>A exon 70691248 N N N N N N N 13(16/47) N N 1 ns:CHD8-201_ns:CHD8-202_ chr14:105378441 G 80333547 14 105378441 C>>>T exon 80333547 N N N N N N N 4 N N 1 ns:IGHD-201_syn:IGHD-202_ chr15:26240157 G 3797611 15 26240157 G>>>C exon 3797611 N N N N 23 N N 26 N 40 3 ns:HERC2-001_an:dbsnp130_ chr15:88143504 S 80336954 15 88143504 T>>>C exon 80336954 N N N N N N N 5 N N 1 ns:ANPEP-001_ chr15:98157740 G 80337042 15 98157740 T>>>C exon 80337042 N N N N N N N 4 N N 1 ns:C15orf51-202_ns:C15orf51-201_ chr16:15086000 G 4241378 16 15086000 G>>>A exon 4241378 11 N N N 14 N N 28 N N 3 ns:RRN3-001_an:dbsnp129_an:dbsnp130_ chr16:69512212 G 4522167 16 69512212 T>>>C exon 4522167 N N 5 N N N N 6 N N 2 ns:HYDIN-205_ns:HYDIN-208_ns:HYDIN-204_ns:HYDIN-203_an:dbsnp129_an:dbsnp130_ chr16:73547881 S 70699938 16 73547881 G>>>A exon 70699938 N N N N N N N 17(43/88) N N 1 ns:WDR59-202_ns:WDR59-201_ chr16:88508579 G 70701584 16 88508579 G>>>T exon 70701584 N N N N N N N(6/17) 4 N N 1 ns:AC092143.4-201_ chr16:777177 G 80338445 16 777177 G>>>C exon 80338445 N N N N N N N 4 N N 1 ns:RPUSD1-001_ chr16:21040911 S 80338903 16 21040911 C>>>A exon 80338903 N N N N N N N 18 N N 1 ns:DNAH3-001_ns:DNAH3-201_ chr16:30980467 S 80339744 16 30980467 A>>>G exon 80339744 N N N N N N N 4 N N 1 ns:ZNF668-002_ns:ZNF668-001_ chr16:2820260 S 80340075 16 2820260 A>>>C exon 80340075 N N N N N N N 4 N N 1 ns:AC005361.5-001_ chr16:16167036 S 80340394 16 16167036 G>>>T exon 80340394 N N N N N N N 5 N N 1 ns:ABCC6-001_ns:ABCC6-201_ chr16:79807482 S 80342486 16 79807482 A>>>T exon 80342486 N N N N N N N 4 N N 1 ns:PKD1L2-201_syn:PKD1L2-203_ns:PKD1L2-202_ chr17:36346261 G 4821680 17 36346261 C>>>A exon 4821680 N N N N N N 4 17(2/2) N N 2 ns:KRT23-001_an:dbsnp129_an:dbsnp130_ chr17:54188490 not in normal 4876947 17 54188490 T>>>C exon 4876947 N N N N N N N N(4/11) 5 N 1 ns:PPM1E-201_an:dbsnp129_an:dbsnp130_ chr17:7355987 G 19397742 17 7355987 T>>>G exon 19397742 N N N N N N N 4 N N 1 ns:POLR2A-201_ chr17:20101393 S 70700933 17 20101393 C>>>G exon 70700933 N N N N N N N 7(9/32) N N 1 ns:CYTSB-001_ns:CYTSB-201_ns:CYTSB-004_ns:CYTSB-202_ chr17:19259694 G 80344814 17 19259694 A>>>T exon 80344814 N N N N N N N 4 N N 1 ns:RNF112-201_ chr17:34127345 S 80347070 17 34127345 T>>>C exon 80347070 N N N N N N N 4 N N 1 ns:MLLT6-001_ chr18:3489390 G 80348190 18 3489390 C>>>A exon 80348190 N N N N N N N 4 N N 1 ns:DLGAP1-004_ns:DLGAP1-005_ns:DLGAP1-003_ns:DLGAP1-002_ns:DLGAP1-001_ chr19:45068515 G 21185166 19 45068515 G>>>A exon 21185166 N N N N 8 N N 5 N N 2 ns:FCGBP-201_ chr19:2764237 G 38950443 19 2764237 A>>>G exon 38950443 N N N N N N N 7 N N 1 ns:THOP1-201_ns:THOP1-202_ chr19:52196467 G 77693580 19 52196467 C>>>T exon 77693580 N N N N N N N 6(89/170) N N 1 ns:GRLF1-201_ chr19:1036842 S 80352444 19 1036842 G>>>C exon 80352444 N N N N N N N 4 N N 1 ns:HMHA1-201_ chr19:10532014 G 80353093 19 10532014 A>>>C exon 80353093 N N N N N N N 5 N N 1 ns:AC011461.6-004_ns:AC011461.6-002_ns:KRI1-201_ chr19:38954772 S 80354289 19 38954772 C>>>G exon 80354289 N N N N N N N 4 N N 1 ns:CHST8-201_ chr2:230974005 G 6612096 2 230974005 T>>>C exon 6612096 N N N N N N N 6 N N 1 ns:SP140L-202_ns:SP140L-201_an:dbsnp129_an:dbsnp130_ chr2:131236445 G 77700872 2 131236445 G>>>T exon 77700872 N N N N N N N 6(19/33) N N 1 ns:FAM123C-001_ chr2:33806214 S? 80357161 2 33806214 T>>>G exon 80357161 N N N N N N N 4 N N 1 ns:MYADML-201_ chr2:42524715 S 80360256 2 42524715 C>>>G exon 80360256 N N N N N N N 20 N N 1 ns:KCNG3-001_ns:KCNG3-002_ns:KCNG3-004_ns:KCNG3-003_ chr2:85742741 G 80360520 2 85742741 G>>>T exon 80360520 N N N N N N N 10 N N 1 ns:SFTPB-201_ns:SFTPB-003_ns:SFTPB-001_ chr2:227369180 S 80366559 2 227369180 T>>>G exon 80366559 N N N N N N N 4 N N 1 ns:IRS1-001_ chr2:239776608 G 80366617 2 239776608 A>>>G exon 80366617 N N N N N N N 5 N N 1 ns:HDAC4-001_ chr20:33530521 S 80368696 20 33530521 G>>>T exon 80368696 N N N N N N N 4 N N 1 ns:CEP250-202_ns:CEP250-201_ns:CEP250-001_ chr20:25703805 S 80368758 20 25703805 C>>>A exon 80368758 N N N N N N N 7 N N 1 ns:FAM182B-003_ns:FAM182B-201_ns:FAM182B-202_ chr20:28130182 G 80369809 20 28130182 G>>>A exon 80369809 N N N N N N N 24 N N 1 ns:AL121762.13-201_ chr21:39681640 S 80372960 21 39681640 C>>>G exon 80372960 N N N N N N N 5 N N 1 ns:WRB-201_ chr22:28528014 G 20113615 22 28528014 T>>>G exon 20113615 N N N N N N N 10 N N 1 ns:ASCC2-001_ns:ASCC2-002_ chr22:36294237 G 39139269 22 36294237 A>>>G exon 39139269 N N N N N N N 8(14/36) N N 1 ns:CDC42EP1-001_ chr22:22364579 S 70724810 22 22364579 G>>>T exon 70724810 N N N N N N N 5(23/46) N N 1 ns:RGL4-203_ns:AP000347.1-002_ns:RGL4-202_ chr22:27989886 G 70725036 22 27989886 G>>>A exon 70725036 N N N N N N N 7(15/36) N N 1 ns:RHBDD3-001_ chr22:28215562 G 80145970 22 28215562 G>>>A exon 80145970 N N N N N 11 N 4 N N 2 ns:NEFH-001_ns:NEFH-201_ chr22:25183925 S 80373436 22 25183925 G>>>T exon 80373436 N N N N N N N 4 N N 1 ns:HPS4-202_ns:HPS4-005_ns:HPS4-008_ns:HPS4-006_ chr22:27958316 S 80374257 22 27958316 G>>>T exon 80374257 N N N N N N N 5 N N 1 ns:EMID1-002_ns:EMID1-001_ns:EMID1-003_ chr22:29666818 S 80374495 22 29666818 G>>>T exon 80374495 N N N N N N N 6 N N 1 ns:MORC2-001_ns:MORC2-002_ chr22:35290532 G 80376340 22 35290532 T>>>G exon 80376340 N N N N N N N 4 N N 1 ns:CACNG2-001_ chr22:49068587 S 80376359 22 49068587 G>>>C exon 80376359 N N N N N N N 4 N N 1 ns:PLXNB2-202_ chr22:49028674 G 80376712 22 49028674 C>>>G exon 80376712 N N N N N N N 4 N N 1 ns:HDAC10-001_ns:HDAC10-008_ns:HDAC10-005_ns:HDAC10-201_ chr3:196999685 G 77812760 3 196999685 C>>>G exon 77812760 N N N N N N N 6 N(2/3) N 1 ns:MUC4-001_ chr3:14080939 G 80375202 3 14080939 T>>>C exon 80375202 N N N N N N N 4 N N 1 ns:TPRXL-201_ chr3:127701677 S 80383233 3 127701677 G>>>T exon 80383233 N N N N N N N 4 N N 1 ns:UROC1-201_ns:UROC1-202_ chr3:196938320 G 80387396 3 196938320 C>>>T exon 80387396 N N N N N N N 4 N N 1 ns:MUC20-202_ns:MUC20-201_ chr4:39124981 G 8523234 4 39124981 C>>>T exon 8523234 N N N N N N N 5 N N 1 ns:KLB-001_an:dbsnp129_an:dbsnp130_ chr4:1716269 S 80385856 4 1716269 A>>>G exon 80385856 N N N N N N N 5 N N 1 ns:TACC3-001_ chr4:7094201 S 80387451 4 7094201 C>>>A exon 80387451 N N N N N N N 5 N N 1 ns:AC097382.3-001_ chr4:105631973 G 80391938 4 105631973 C>>>G exon 80391938 N N N N N N N 4 N N 1 ns:CXXC4-001_ chr4:151724242 S 80394143 4 151724242 A>>>G exon 80394143 N N N N N N N 4 N N 1 ns:MAB21L2-201_ chr4:155463875 G 80394335 4 155463875 G>>>T exon 80394335 N N N N N N N 7 7 9 3 ns:DCHS2-201_ chr5:854252 G 80394862 5 854252 C>>>T exon 80394862 N N N N N N N 20 N N 1 ns:ZDHHC11-001_ chr5:161250616 S 80404161 5 161250616 C>>>A exon 80404161 N N N N N N N 24 N N 1 ns:GABRA1-201_ns:GABRA1-001_ chr5:148983846 S 80405672 5 148983846 C>>>A exon 80405672 N N N N N N N 4 N N 1 ns:AC022100.7-201_ chr6:32605939 G 10177639 6 32605939 T>>>A exon 10177639 N N N N N N N 5 N N 1 ns:HLA-DRB5-001_an:dbsnp130_ chr6:37720398 G 71670597 6 37720398 T>>>G exon 71670597 14 N N N N N N(13/64) N(8/33) N N 1 ns:MDGA1-201_ns:MDGA1-001_ chr6:31739699 G 74700423 6 31739699 T>>>C exon 74700423 N N N 4 N N N N(22/85) N(17/69) N 1 ns:BAT4-003_ns:BAT4-005_ns:BAT4-002_ns:BAT4-004_ns:BAT4-001_ chr6:97668834 S 77713596 6 97668834 G>>>T exon 77713596 N N N N N N N 5(6/10) N N 1 ns:KLHL32-001_ chr6:27942836 G 77715587 6 27942836 C>>>A exon 77715587 N N N N N N N 7(2/4) N N 1 ns:HIST1H1B-001_ chr6:30077698 G 80408143 6 30077698 T>>>C exon 80408143 N N N N N N N 6 N N 1 ns:C6orf12-201_ chr6:43508952 G 80408422 6 43508952 T>>>C exon 80408422 N N N N N N N 4 N N 1 ns:ABCC10-201_ns:ABCC10-002_syn:ABCC10-203_ chr6:32226606 G 80409047 6 32226606 A>>>G exon 80409047 N N N N N N N 4 N N 1 syn:PRRT1-002_ns:PRRT1-201_ chr6:82518607 s? 80410983 6 82518607 G>>>C exon 80410983 N N N N N N N 4 N N 1 ns:FAM46A-003_ns:FAM46A-005_ chr6:90030955 S 80411237 6 90030955 G>>>T exon 80411237 N N N N N N N 4 N N 1 ns:GABRR2-201_ns:GABRR2-001_ chr6:87922102 S 80411746 6 87922102 T>>>C exon 80411746 N N N N N N N 4 N N 1 ns:ZNF292-202_ chr6:152512312 G 80413018 6 152512312 C>>>G exon 80413018 N N N N N N N 13 N N 1 ns:SYNE1-202_ns:SYNE1-204_ns:SYNE1-208_ns:SYNE1-207_ns:SYNE1-201_ns:SYNE1-203_ns:SYNE1-004_ns:SYNE1-002_ns:SYNE1-015_ns:SYNE1-011_ns:SYNE1-001_ns:SYNE1-005_ chr6:167490423 G 80413191 6 167490423 A>>>C exon 80413191 N N N N N N N 7 N N 1 ns:GPR31-001_ chr7:44118698 G 70760567 7 44118698 G>>>A exon 70760567 N N N N N N N 4(112/228) N N 1 ns:AEBP1-001_ chr7:100646320 G 70764420 7 100646320 C>>>T exon 70764420 N N N N N N N 6(31/75) N N 1 ns:PLOD3-201_ chr7:104540715 S 70765048 7 104540715 C>>>A exon 70765048 N N N N N N N 4(46/102) N N 1 ns:MLL5-201_ns:MLL5-202_ns:MLL5-206_ns:MLL5-203_ chr7:97336356 G 80063831 7 97336356 G>>>A exon 80063831 N N N N 16 N N 15 N N 2 ns:ASNS-203_ns:ASNS-202_ns:ASNS-201_ chr7:97336347 G 80064199 7 97336347 T>>>A exon 80064199 N N N N 19 N N 20 N N 2 ns:ASNS-203_ns:ASNS-202_ns:ASNS-201_ chr7:100389095 S 80418719 7 100389095 G>>>T exon 80418719 N N N N N N N 6 N N 1 ns:MUC3B-202_ chr7:100389096 S 80419059 7 100389096 A>>>T exon 80419059 N N N N N N N 9 N N 1 ns:MUC3B-202_ chr7:100388572 G 80419801 7 100388572 C>>>T exon 80419801 N N N N N N N 10 N N 1 ns:MUC3B-202_ chr7:117218894 S 80421285 7 117218894 G>>>T exon 80421285 N N N N N N N 4 N N 1 ns:CTTNBP2-001_ chr8:12638627 S 70768347 8 12638627 C>>>G exon 70768347 N N N N N N N 22(12/14) N N 1 ns:LONRF1-201_ns:LONRF1-001_ chr8:97412443 S 70770536 8 97412443 G>>>A exon 70770536 N N N N N N N 12(70/156) N N 1 ns:PTDSS1-201_ chr8:41673375 S 80426014 8 41673375 G>>>T exon 80426014 N N N N N N N 4 N N 1 ns:ANK1-204_ns:ANK1-001_ns:ANK1-207_ns:ANK1-002_ns:ANK1-208_ns:ANK1-206_ns:ANK1-201_syn:ANK1-205_ chr8:102800945 S 80427064 8 102800945 C>>>A exon 80427064 N N N N N N N 4 N N 1 ns:NCALD-201_ns:NCALD-204_ns:NCALD-202_ns:NCALD-205_ns:NCALD-203_ chr8:145987971 S 80430560 8 145987971 C>>>T exon 80430560 N N N N N N N 4 N N 1 ns:AF235103.4-202_ns:AF235103.4-201_ chr9:41944665 G 12595878 9 41944665 C>>>A exon 12595878 N N N N N N N 5 N N 1 ns:BX664615.10-201_an:dbsnp129_an:dbsnp130_ chr9:140190737 G 13104578 9 140190737 G>>>A exon 13104578 N N N N N 13 N N(2/2) N N 1 ns:AL591424.12-201_an:dbsnp129_an:dbsnp130_ chr9:38058158 s? 80433366 9 38058158 T>>>G exon 80433366 N N N N N N N 4 N N 1 ns:SHB-202_ns:SHB-201_ns:SHB-001_ chr9:134535456 S 80434914 9 134535456 A>>>G exon 80434914 N N N N N N N 4 N N 1 ns:DDX31-002_ns:DDX31-202_ns:DDX31-001_ns:DDX31-003_ns:DDX31-201_ chr9:115396361 S 80435735 9 115396361 T>>>G exon 80435735 N N N N N N N 4 N N 1 ns:RGS3-008_ chr9:138248319 G 80441159 9 138248319 A>>>G exon 80441159 N N N N N N N 6 N N 1 ns:QSOX2-001_syn:QSOX2-201_ chrX:169493 G 13102221 X 169493 G>>>A exon 13102221 N N N N N N N 5(27/82) N N 1 ns:GTPBP6-201_an:dbsnp130_an:dbsnp130_ chrX:151143897 S 80444051 X 151143897 C>>>G exon 80444051 N N N N N N N 4 N N 1 ns:GABRA3-001_ns:GABRA3-002_ chrY:5028368 G 13649742 Y 5028368 G>>>T exon 13649742 N N N N N N N 5 N N 1 ns:PCDH11Y-002_syn:PCDH11Y-201_syn:PCDH11Y-202_ns:PCDH11Y-003_ns:PCDH11Y-203_an:dbsnp129_an:dbsnp130_