regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123911861 | T | TTTGTCCT others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0086 | 1 | 170 | 0.0059 | 13 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21574913 | C | CTCAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0150 | a0150c0129 | a0150c0129t0002 | a0150c0129t0002g0074 | 1 | 298 | 0.0034 | 13 | c.159 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 8/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726891 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0132 | a0132c0073 | a0132c0073t0010 | a0132c0073t0010g0292 | 1 | 298 | 0.0034 | 13 | c.744 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01070.hp2 others(25): Show |
a0002a0003a0004others(24): Show | a0002c0091a0003c0010a0004c0009others(25): Show | a0002c0091t0002a0003c0010t0001a0004c0009t0002others(25): Show | a0002c0091t0002g0015a0003c0010t0001g0062a0004c0009t0002g0038others(25): Show | 28 | 298 | 0.0940 | 13 | c.744 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21763353 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(47): Show |
a0001a0002a0011others(38): Show | a0001c0001a0001c0002a0001c0051others(43): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(43): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(47): Show | 50 | 298 | 0.1678 | 13 | c.894 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 54/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03834.hp2 HG04184.hp1 others(1): Show |
a0017a0051a0139others(1): Show | a0017c0016a0051c0077a0139c0130others(1): Show | a0017c0016t0003a0051c0077t0002a0139c0130t0002others(1): Show | a0017c0016t0003g0173a0051c0077t0002g0046a0139c0130t0002g0017others(1): Show | 4 | 298 | 0.0134 | 13 | c.100 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21872123 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00642.hp2 others(18): Show |
a0001a0014a0019others(15): Show | a0001c0001a0001c0002a0014c0055others(17): Show | a0001c0001t0004a0001c0002t0004a0014c0055t0003others(17): Show | a0001c0001t0004g0253a0001c0002t0004g0297a0014c0055t0003g0234others(18): Show | 21 | 298 | 0.0705 | 13 | c.119 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18949.hp2 NA18961.hp1 others(1): Show |
a0001 | a0001c0001a0001c0087a0001c0088 | a0001c0001t0001a0001c0087t0001a0001c0088t0001 | a0001c0001t0001g0196a0001c0001t0001g0225a0001c0087t0001g0248others(1): Show | 4 | 266 | 0.0150 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 |
a0007a0017 | a0007c0017a0017c0069 | a0007c0017t0001a0017c0069t0001 | a0007c0017t0001g0104a0017c0069t0001g0264 | 2 | 266 | 0.0075 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 266 | 0.0038 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0044 | a0003c0044t0001 | a0003c0044t0001g0008 | 1 | 266 | 0.0038 | 13 | c.997 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(21): Show |
a0003a0004a0010others(8): Show | a0003c0003a0004c0004a0010c0015others(8): Show | a0003c0003t0001a0004c0004t0001a0010c0015t0001others(8): Show | a0003c0003t0001g0007a0003c0003t0001g0013a0003c0003t0001g0018others(21): Show | 24 | 266 | 0.0902 | 13 | c.875 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371965 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011a0003c0003t0001g0017 | 2 | 266 | 0.0075 | 13 | c.875 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390420 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0109 | 1 | 266 | 0.0038 | 13 | c.730 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0108 | 1 | 266 | 0.0038 | 13 | c.730 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57421902 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01261.hp2 others(13): Show |
a0002a0003a0006others(4): Show | a0002c0002a0003c0003a0003c0044others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0044t0001others(5): Show | a0002c0002t0001g0216a0003c0003t0001g0018a0003c0003t0001g0027others(13): Show | 16 | 266 | 0.0602 | 13 | c.537 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGATG others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG02647.hp1 others(4): Show |
a0007a0011a0014others(2): Show | a0007c0016a0011c0018a0014c0014others(2): Show | a0007c0016t0001a0011c0018t0001a0014c0014t0001others(2): Show | a0007c0016t0001g0041a0007c0016t0001g0045a0011c0018t0001g0010others(4): Show | 7 | 266 | 0.0263 | 13 | c.525 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499645 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0073 | a0073c0053 | a0073c0053t0001 | a0073c0053t0001g0075 | 1 | 266 | 0.0038 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0037 | a0037c0049 | a0037c0049t0001 | a0037c0049t0001g0054 | 1 | 266 | 0.0038 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
a0003a0006a0021 | a0003c0003a0006c0006a0021c0022 | a0003c0003t0001a0006c0006t0001a0021c0022t0001 | a0003c0003t0001g0055a0006c0006t0001g0050a0021c0022t0001g0176others(1): Show | 4 | 266 | 0.0150 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224991084 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03669.hp1 |
a0021a0036 | a0021c0034a0036c0120 | a0021c0034t0001a0036c0120t0001 | a0021c0034t0001g0090a0036c0120t0001g0088 | 2 | 240 | 0.0083 | 13 | c.831 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02451.hp2 NA18984.hp2 |
a0042a0056a0061 | a0042c0046a0056c0059a0061c0052 | a0042c0046t0001a0056c0059t0001a0061c0052t0001 | a0042c0046t0001g0229a0056c0059t0001g0223a0061c0052t0001g0230 | 3 | 240 | 0.0125 | 13 | c.801 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78431245 | T | TCTCTGTC others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0144 | a0144c0030 | a0144c0030t0001 | a0144c0030t0001g0051 | 1 | 252 | 0.0040 | 13 | c.122 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78432902 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0094 | a0002c0094t0001 | a0002c0094t0001g0173 | 1 | 252 | 0.0040 | 13 | c.122 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78492855 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01175.hp2 others(8): Show |
a0001a0029a0034others(4): Show | a0001c0001a0001c0002a0001c0063others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0159a0001c0001t0001g0236a0001c0001t0003g0249others(8): Show | 11 | 252 | 0.0437 | 13 | c.640 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 41/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541000 | A | ATGGGTGG others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 NA21309.hp1 |
a0025a0094a0101 | a0025c0017a0094c0093a0101c0211 | a0025c0017t0001a0094c0093t0001a0101c0211t0001 | a0025c0017t0001g0078a0094c0093t0001g0089a0101c0211t0001g0135 | 3 | 252 | 0.0119 | 13 | c.253 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02896.hp2 |
a0013a0019 | a0013c0012a0019c0080 | a0013c0012t0002a0019c0080t0001 | a0013c0012t0002g0222a0019c0080t0001g0112 | 2 | 252 | 0.0079 | 13 | c.239 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78548202 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03471.hp2 |
a0004a0027 | a0004c0103a0004c0199a0027c0028 | a0004c0103t0001a0004c0199t0002a0027c0028t0001 | a0004c0103t0001g0111a0004c0199t0002g0141a0027c0028t0001g0116 | 3 | 252 | 0.0119 | 13 | c.239 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553283 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02071.hp2 |
a0007a0126 | a0007c0004a0126c0152 | a0007c0004t0001a0126c0152t0001 | a0007c0004t0001g0203a0126c0152t0001g0030 | 2 | 252 | 0.0079 | 13 | c.217 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78557636 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02056.hp1 others(3): Show |
a0007a0020a0031others(2): Show | a0007c0004a0020c0013a0031c0163others(2): Show | a0007c0004t0001a0020c0013t0001a0031c0163t0001others(2): Show | a0007c0004t0001g0185a0007c0004t0001g0204a0020c0013t0001g0167others(3): Show | 6 | 252 | 0.0238 | 13 | c.217 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7714166 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0043 | a0043c0088 | a0043c0088t0002 | a0043c0088t0002g0034 | 1 | 316 | 0.0032 | 13 | c.-46 others(24): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3577 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20957808 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 234 | 0.0043 | 13 | c.106 others(34): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0060 | a0005c0060t0001 | a0005c0060t0001g0121 | 1 | 234 | 0.0043 | 13 | c.832 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG02155.hp1 others(6): Show |
a0004a0024a0048 | a0004c0007a0004c0081a0024c0045others(1): Show | a0004c0007t0001a0004c0081t0001a0024c0045t0001others(1): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(6): Show | 9 | 234 | 0.0385 | 13 | c.755 others(32): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21018441 | T | TCTTACTT others(6): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 234 | 0.0043 | 13 | c.588 others(32): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020398 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0055 | a0055c0096 | a0055c0096t0001 | a0055c0096t0001g0074 | 1 | 234 | 0.0043 | 13 | c.563 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21139320 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18968.hp1 NA18968.hp2 |
a0001a0013 | a0001c0001a0001c0002a0013c0036 | a0001c0001t0001a0001c0002t0001a0013c0036t0001 | a0001c0001t0001g0207a0001c0002t0001g0231a0013c0036t0001g0050 | 3 | 234 | 0.0128 | 13 | c.609 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 6/61 | chr16 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02886.hp2 |
a0001a0009 | a0001c0001a0009c0018 | a0001c0001t0001a0009c0018t0002 | a0001c0001t0001g0045a0009c0018t0002g0093 | 2 | 116 | 0.0172 | 13 | c.160 others(28): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84663490 | G | GAGAGATT others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA18906.hp2 others(1): Show |
a0008a0020 | a0008c0011a0020c0041 | a0008c0011t0001a0020c0041t0001 | a0008c0011t0001g0048a0008c0011t0001g0064a0008c0011t0001g0072others(1): Show | 4 | 116 | 0.0345 | 13 | c.608 others(32): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84753755 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0016 | 1 | 116 | 0.0086 | 13 | c.105 others(34): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 63/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 256 | 0.0039 | 13 | c.114 others(34): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195906423 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0047 | a0047c0029 | a0047c0029t0003 | a0047c0029t0003g0022 | 1 | 256 | 0.0039 | 13 | c.433 others(30): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 27/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195950868 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0005a0009 | a0005c0007a0005c0062a0009c0010 | a0005c0007t0006a0005c0062t0005a0009c0010t0005 | a0005c0007t0006g0254a0005c0007t0006g0256a0005c0062t0005g0240others(2): Show | 5 | 256 | 0.0195 | 13 | c.307 others(32): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 19/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18956.hp1 |
a0005a0069 | a0005c0003a0069c0062 | a0005c0003t0002a0069c0062t0001 | a0005c0003t0002g0034a0069c0062t0001g0007 | 2 | 284 | 0.0070 | 13 | c.-35 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02976.hp1 NA18942.hp1 |
a0006a0046a0062 | a0006c0023a0046c0104a0062c0120 | a0006c0023t0001a0046c0104t0001a0062c0120t0001 | a0006c0023t0001g0213a0046c0104t0001g0013a0062c0120t0001g0025 | 3 | 284 | 0.0106 | 13 | c.-35 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38772971 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp2 HG04199.hp2 |
a0011a0041a0062 | a0011c0119a0041c0083a0062c0120 | a0011c0119t0001a0041c0083t0001a0062c0120t0001 | a0011c0119t0001g0249a0041c0083t0001g0158a0062c0120t0001g0025 | 3 | 284 | 0.0106 | 13 | c.176 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01109.hp2 others(16): Show |
a0001a0004a0006others(6): Show | a0001c0035a0004c0006a0004c0015others(10): Show | a0001c0035t0001a0004c0006t0001a0004c0015t0001others(10): Show | a0001c0035t0001g0166a0004c0006t0001g0035a0004c0006t0001g0106others(16): Show | 19 | 284 | 0.0669 | 13 | c.352 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 HG03486.hp1 others(5): Show |
a0006a0009a0018others(1): Show | a0006c0005a0006c0023a0006c0058others(3): Show | a0006c0005t0001a0006c0023t0001a0006c0058t0001others(4): Show | a0006c0005t0001g0203a0006c0023t0001g0144a0006c0058t0001g0165others(5): Show | 8 | 284 | 0.0282 | 13 | c.408 others(30): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932183 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0017 | a0017c0025 | a0017c0025t0002 | a0017c0025t0002g0111 | 1 | 284 | 0.0035 | 13 | c.114 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38932217 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0050 | 1 | 284 | 0.0035 | 13 | c.114 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | chr6 | TogoVar |