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 | 123881617 | A | T | splice_region_variant others(1): Show |
LOW | HG04199.hp1 | a0018 | a0018c0015 | a0018c0015t0002 | a0018c0015t0002g0110 | 1 | 170 | 0.0059 | 0 | c.863 others(6): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 50/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123887137 | C | T | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG01074.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0046a0002c0004t0002g0048 | 2 | 170 | 0.0118 | 0 | c.882 others(6): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 51/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123915003 | T | C | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG00738.hp1 HG01071.hp2 others(63): Show |
a0001a0004a0005others(32): Show | a0001c0001a0001c0003a0001c0066others(39): Show | a0001c0001t0001a0001c0003t0002a0001c0066t0001others(39): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0003t0002g0049others(63): Show | 66 | 170 | 0.3882 | 0 | c.107 others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 62/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123928379 | C | T | splice_region_variant others(1): Show |
LOW | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 170 | 0.0059 | 0 | c.121 others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 69/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123928381 | G | A | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0002 | a0002c0089 | a0002c0089t0001 | a0002c0089t0001g0085 | 1 | 170 | 0.0059 | 0 | c.121 others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 69/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123931943 | C | T | splice_region_variant others(1): Show |
LOW | HG01175.hp2 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0160 | 1 | 170 | 0.0059 | 0 | c.131 others(5): Show |
p.Ala others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 76/79 | 13167/14039 | 13131/13770 | 4377/4589 | chr12 | TogoVar | ||
DNAH11_chr7_21538039_21906839 | 21571800 | A | T | splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0080 | a0080c0164 | a0080c0164t0005 | a0080c0164t0005g0013 | 1 | 298 | 0.0034 | 0 | c.142 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 7/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21588644 | G | C | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0202 | a0202c0241 | a0202c0241t0001 | a0202c0241t0001g0194 | 1 | 298 | 0.0034 | 0 | c.197 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 11/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21600669 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 | a0090 | a0090c0108 | a0090c0108t0004 | a0090c0108t0004g0068 | 1 | 298 | 0.0034 | 0 | c.300 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 15/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21707694 | C | G | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG02622.hp1 HG03195.hp2 |
a0121a0128a0185 | a0121c0059a0128c0063a0185c0245 | a0121c0059t0004a0128c0063t0001a0185c0245t0005 | a0121c0059t0004g0091a0128c0063t0001g0113a0185c0245t0005g0127 | 3 | 298 | 0.0101 | 0 | c.654 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 39/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21725806 | C | G | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0074 | a0074c0033 | a0074c0033t0001 | a0074c0033t0001g0244 | 1 | 298 | 0.0034 | 0 | c.726 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 44/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21765597 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG03490.hp2 |
a0063a0210 | a0063c0030a0210c0228 | a0063c0030t0004a0210c0228t0003 | a0063c0030t0004g0254a0210c0228t0003g0191 | 2 | 298 | 0.0067 | 0 | c.910 others(6): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21852629 | A | G | missense_variant others(1): Show |
MODERATE | HG01255.hp2 HG02559.hp2 HG02922.hp2 others(4): Show |
a0040a0080a0096others(3): Show | a0040c0018a0080c0164a0096c0071others(3): Show | a0040c0018t0001a0080c0164t0005a0096c0071t0001others(3): Show | a0040c0018t0001g0128a0040c0018t0001g0157a0080c0164t0005g0013others(4): Show | 7 | 298 | 0.0235 | 0 | c.110 others(5): Show |
p.Lys others(7): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 67/82 | 11266/14343 | 11059/13551 | 3687/4516 | chr7 | TogoVar | ||
DNAH11_chr7_21538039_21906839 | 21854453 | A | C | missense_variant others(1): Show |
MODERATE | HG02109.hp1 HG02818.hp2 HG03098.hp2 others(2): Show |
a0082a0124a0129others(2): Show | a0082c0157a0124c0065a0129c0066others(2): Show | a0082c0157t0002a0124c0065t0003a0129c0066t0003others(2): Show | a0082c0157t0002g0241a0124c0065t0003g0115a0129c0066t0003g0090others(2): Show | 5 | 298 | 0.0168 | 0 | c.112 others(5): Show |
p.Lys others(7): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 68/82 | 11407/14343 | 11200/13551 | 3734/4516 | chr7 | TogoVar | ||
DNAH11_chr7_21538039_21906839 | 21854462 | C | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG01884.hp1 others(59): Show |
a0002a0004a0005others(50): Show | a0002c0110a0004c0054a0004c0062others(57): Show | a0002c0110t0005a0004c0054t0002a0004c0062t0002others(57): Show | a0002c0110t0005g0245a0004c0054t0002g0063a0004c0062t0002g0281others(59): Show | 62 | 298 | 0.2081 | 0 | c.112 others(7): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 68/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21892426 | C | T | missense_variant others(1): Show |
MODERATE | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0001a0002a0004others(82): Show | a0001c0001a0001c0002a0001c0051others(103): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(106): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(111): Show | 114 | 298 | 0.3826 | 0 | c.125 others(5): Show |
p.Thr others(7): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 77/82 | 12716/14343 | 12509/13551 | 4170/4516 | chr7 | TogoVar | ||
DNAH11_chr7_21538039_21906839 | 21901008 | C | T | splice_region_variant others(1): Show |
LOW | NA18977.hp1 | a0036 | a0036c0229 | a0036c0229t0005 | a0036c0229t0005g0207 | 1 | 298 | 0.0034 | 0 | c.133 others(5): Show |
p.Gly others(7): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 13512/14343 | 13305/13551 | 4435/4516 | chr7 | TogoVar | ||
DNAH12_chr3_57288700_57549344 | 57387226 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(147): Show |
a0001a0002a0003others(38): Show | a0001c0026a0002c0002a0002c0023others(43): Show | a0001c0026t0001a0002c0002t0001a0002c0023t0001others(43): Show | a0001c0026t0001g0175a0001c0026t0001g0204a0002c0002t0001g0006others(147): Show | 150 | 266 | 0.5639 | 0 | c.730 others(6): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57394338 | A | T | splice_region_variant others(1): Show |
LOW | HG03834.hp2 | a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0220 | 1 | 266 | 0.0038 | 0 | c.694 others(6): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 43/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57405153 | G | A | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG03041.hp1 HG03139.hp1 |
a0024a0035 | a0024c0074a0024c0075a0035c0045 | a0024c0074t0002a0024c0075t0002a0035c0045t0002 | a0024c0074t0002g0257a0024c0075t0002g0256a0035c0045t0002g0012 | 3 | 266 | 0.0113 | 0 | c.657 others(6): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 41/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57446013 | ATAAATAA others(5): Show |
A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(87): Show |
a0001a0005a0008others(14): Show | a0001c0001a0001c0026a0001c0027others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(24): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(87): Show | 90 | 266 | 0.3384 | -12 | c.417 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 27/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57470644 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(154): Show |
a0001a0004a0005others(43): Show | a0001c0001a0001c0026a0001c0027others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(61): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(154): Show | 157 | 266 | 0.5902 | 0 | c.191 others(6): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 15/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57483370 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(153): Show |
a0001a0004a0005others(42): Show | a0001c0001a0001c0026a0001c0027others(58): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(60): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(153): Show | 156 | 266 | 0.5865 | 0 | c.165 others(6): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57483375 | C | CATAGTGA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18940.hp1 | a0048 | a0048c0052 | a0048c0052t0001 | a0048c0052t0001g0239 | 1 | 266 | 0.0038 | 11 | c.165 others(22): Show |
p.Glu others(5): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/74 | 1831/12145 | 1650/11883 | 550/3960 | chr3 | TogoVar | ||
DNAH12_chr3_57288700_57549344 | 57485474 | TACACCAC others(6439): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02257.hp1 | a0038 | a0038c0040 | a0038c0040t0001 | a0038c0040t0001g0014 | 1 | 266 | 0.0038 | -6446 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/74 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57542902 | C | T | splice_region_variant | LOW | HG02451.hp1 HG03579.hp1 |
a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180a0026c0020t0004g0219 | 2 | 266 | 0.0075 | 0 | c.-32 others(3): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/74 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224968755 | G | A | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(38): Show |
a0000a0001a0003others(11): Show | a0000c0102a0001c0001a0001c0008others(12): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(14): Show | a0000c0102t0003g0177a0001c0001t0001g0105a0001c0001t0001g0147others(38): Show | 41 | 240 | 0.1708 | 0 | c.652 others(5): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 6/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225085546 | G | T | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0000a0001a0003others(61): Show | a0000c0102a0001c0001a0001c0008others(69): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(71): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(143): Show | 146 | 240 | 0.6083 | 0 | c.333 others(4): Show |
p.Met others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/86 | 3524/14065 | 3330/13854 | 1110/4617 | chr1 | TogoVar | ||
DNAH14_chr1_224924675_225404286 | 225147097 | T | A | splice_region_variant others(1): Show |
LOW | HG02723.hp2 | a0045 | a0045c0076 | a0045c0076t0001 | a0045c0076t0001g0001 | 1 | 240 | 0.0042 | 0 | c.479 others(6): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 30/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225147098 | T | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(51): Show |
a0002a0004a0012others(20): Show | a0002c0003a0002c0025a0002c0073others(24): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(25): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(51): Show | 54 | 240 | 0.2250 | 0 | c.479 others(6): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 30/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225147099 | A | T | splice_region_variant others(1): Show |
LOW | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(18): Show |
a0007a0008a0015others(7): Show | a0007c0009a0007c0048a0008c0007others(8): Show | a0007c0009t0001a0007c0048t0001a0008c0007t0001others(8): Show | a0007c0009t0001g0004a0007c0009t0001g0005a0007c0009t0001g0006others(18): Show | 21 | 240 | 0.0875 | 0 | c.479 others(6): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 30/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225159309 | T | A | splice_region_variant others(1): Show |
LOW | NA19003.hp1 | a0102 | a0102c0092 | a0102c0092t0001 | a0102c0092t0001g0165 | 1 | 240 | 0.0042 | 0 | c.527 others(6): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 34/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225159314 | T | C | splice_region_variant others(1): Show |
LOW | NA19003.hp1 | a0102 | a0102c0092 | a0102c0092t0001 | a0102c0092t0001g0165 | 1 | 240 | 0.0042 | 0 | c.527 others(4): Show |
p.Cys others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 35/86 | 5468/14065 | 5274/13854 | 1758/4617 | chr1 | TogoVar | ||
DNAH14_chr1_224924675_225404286 | 225159315 | G | C | missense_variant others(1): Show |
MODERATE | NA19003.hp1 | a0102 | a0102c0092 | a0102c0092t0001 | a0102c0092t0001g0165 | 1 | 240 | 0.0042 | 0 | c.527 others(4): Show |
p.Asp others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 35/86 | 5469/14065 | 5275/13854 | 1759/4617 | chr1 | TogoVar | ||
DNAH14_chr1_224924675_225404286 | 225159485 | G | A | splice_region_variant others(1): Show |
LOW | NA19003.hp1 | a0102 | a0102c0092 | a0102c0092t0001 | a0102c0092t0001g0165 | 1 | 240 | 0.0042 | 0 | c.544 others(4): Show |
p.Glu others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 35/86 | 5639/14065 | 5445/13854 | 1815/4617 | chr1 | TogoVar | ||
DNAH14_chr1_224924675_225404286 | 225192696 | A | G | missense_variant others(1): Show |
MODERATE | HG02723.hp2 HG02818.hp1 |
a0044a0045 | a0044c0077a0045c0076 | a0044c0077t0001a0045c0076t0001 | a0044c0077t0001g0022a0045c0076t0001g0001 | 2 | 240 | 0.0083 | 0 | c.567 others(4): Show |
p.Ile others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 38/86 | 5865/14065 | 5671/13854 | 1891/4617 | chr1 | TogoVar | ||
DNAH14_chr1_224924675_225404286 | 225351886 | A | G | splice_region_variant others(1): Show |
LOW | HG02027.hp1 NA19010.hp1 |
a0038a0040 | a0038c0124a0040c0122 | a0038c0124t0001a0040c0122t0001 | a0038c0124t0001g0094a0040c0122t0001g0093 | 2 | 240 | 0.0083 | 0 | c.115 others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 72/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374683 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002a0003others(81): Show | a0001c0001a0001c0008a0002c0003others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(90): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(174): Show | 177 | 240 | 0.7375 | 0 | c.123 others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225377444 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02818.hp1 HG02895.hp1 others(1): Show |
a0044a0068a0071others(1): Show | a0044c0077a0068c0062a0071c0081others(1): Show | a0044c0077t0001a0068c0062t0001a0071c0081t0001others(1): Show | a0044c0077t0001g0022a0068c0062t0001g0231a0071c0081t0001g0220others(1): Show | 4 | 240 | 0.0167 | 0 | c.127 others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 79/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225399035 | A | AT | splice_region_variant others(1): Show |
LOW | HG02015.hp2 NA18612.hp2 NA18950.hp2 others(2): Show |
a0004a0027a0046 | a0004c0004a0027c0026a0046c0063 | a0004c0004t0001a0027c0026t0001a0046c0063t0001 | a0004c0004t0001g0049a0004c0004t0001g0078a0027c0026t0001g0082others(2): Show | 5 | 240 | 0.0208 | 1 | c.136 others(8): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 85/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225399050 | A | T | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG03239.hp1 |
a0006a0059 | a0006c0006a0059c0057 | a0006c0006t0001a0059c0057t0001 | a0006c0006t0001g0109a0059c0057t0001g0232 | 2 | 240 | 0.0083 | 0 | c.136 others(7): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 85/85 | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78426450 | C | A | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02886.hp2 HG03209.hp2 others(1): Show |
a0049a0053a0103others(1): Show | a0049c0217a0053c0046a0103c0075others(1): Show | a0049c0217t0001a0053c0046t0001a0103c0075t0001others(1): Show | a0049c0217t0001g0237a0053c0046t0001g0102a0103c0075t0001g0011others(1): Show | 4 | 252 | 0.0159 | 0 | c.129 others(7): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78434017 | ACAGCCCC others(121): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02976.hp2 | a0026 | a0026c0019 | a0026c0019t0001 | a0026c0019t0001g0127 | 1 | 252 | 0.0040 | -128 | c.121 others(14): Show |
p.Val others(15): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/81 | 12109/13389 | 4037/4462 | chr17 | TogoVar | |||
DNAH17_chr17_78418697_78582396 | 78439216 | T | C | splice_region_variant others(1): Show |
LOW | HG03669.hp2 | a0001 | a0001c0130 | a0001c0130t0001 | a0001c0130t0001g0175 | 1 | 252 | 0.0040 | 0 | c.116 others(5): Show |
p.Gly others(7): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/81 | 11806/13725 | 11679/13389 | 3893/4462 | chr17 | TogoVar | ||
DNAH17_chr17_78418697_78582396 | 78451679 | G | A | splice_region_variant others(1): Show |
LOW | HG03654.hp1 | a0129 | a0129c0149 | a0129c0149t0001 | a0129c0149t0001g0218 | 1 | 252 | 0.0040 | 0 | c.105 others(7): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 65/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78455839 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(234): Show |
a0001a0002a0003others(136): Show | a0001c0001a0001c0002a0001c0008others(214): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(216): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(234): Show | 237 | 252 | 0.9405 | 0 | c.997 others(6): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 62/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78458683 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 | a0010 | a0010c0091 | a0010c0091t0005 | a0010c0091t0005g0003 | 1 | 252 | 0.0040 | 0 | c.986 others(6): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 61/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78460265 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp2 | a0072 | a0072c0215 | a0072c0215t0001 | a0072c0215t0001g0100 | 1 | 252 | 0.0040 | 0 | c.934 others(6): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78468889 | C | T | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG02132.hp1 HG02886.hp2 others(2): Show |
a0002a0006a0103others(2): Show | a0002c0161a0006c0051a0103c0075others(2): Show | a0002c0161t0003a0006c0051t0001a0103c0075t0001others(2): Show | a0002c0161t0003g0246a0006c0051t0001g0182a0103c0075t0001g0011others(2): Show | 5 | 252 | 0.0198 | 0 | c.851 others(6): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78479116 | G | A | missense_variant others(1): Show |
MODERATE | HG01106.hp1 | a0044 | a0044c0037 | a0044c0037t0002 | a0044c0037t0002g0101 | 1 | 252 | 0.0040 | 0 | c.790 others(4): Show |
p.Ala others(7): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/81 | 8028/13725 | 7901/13389 | 2634/4462 | chr17 | TogoVar |