view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1238895 | G | GCCGTGTC others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 39 | 0.0256 | 25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1239341 | G | GGCCGTGT others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 15 | 0.0667 | 25 | c.74- others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 60 | 0.0167 | 25 | c.260 others(42): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02155.hp2 HG04115.hp1 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0011t0001 | a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0252 others(5): Show |
8 | 141 | 0.0567 | 25 | c.327 others(42): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31293214 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0058 | a0002c0058t0003 | a0002c0058t0003g0051 | 1 | 124 | 0.0081 | 25 | c.922 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31511235 | T | TATATAAT others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01433.hp1 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0021a0002c0009a0002c0016others(10): Show | a0001c0021t0001a0002c0009t0001a0002c0016t0005others(10): Show | a0001c0021t0001g0032 a0002c0009t0001g0077 a0002c0016t0005g0042 others(12): Show |
15 | 83 | 0.1807 | 25 | c.821 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31843843 | G | GATTGTAT others(18): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 NA19043.hp1 |
a0002a0014a0027 | a0002c0020a0014c0029a0027c0044 | a0002c0020t0019a0014c0029t0001a0027c0044t0003 | a0002c0020t0019g0006 a0014c0029t0001g0092 a0027c0044t0003g0122 |
3 | 103 | 0.0291 | 25 | c.709 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32050974 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0016 | a0002c0016t0005 | a0002c0016t0005g0042 | 1 | 86 | 0.0116 | 25 | c.643 others(46): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452439 | G | GGGAAAGG others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0087 | 1 | 100 | 0.0100 | 25 | c.360 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(18): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18955.hp1 |
a0004a0014 | a0004c0012a0014c0050 | a0004c0012t0001a0014c0050t0009 | a0004c0012t0001g0064 a0014c0050t0009g0123 |
2 | 5 | 0.4000 | 25 | c.649 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0018 | a0018c0039 | a0018c0039t0001 | a0018c0039t0001g0040 | 1 | 34 | 0.0294 | 25 | c.93+ others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79003968 | A | AAATAAAT others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 369 | 0.0027 | 25 | c.238 others(44): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 15/15 | chr5 | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87653407 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0096 | 1 | 422 | 0.0024 | 25 | c.-22 others(42): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0305 | 1 | 97 | 0.0103 | 25 | c.354 others(38): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72840183 | A | AAAAGCAA others(18): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0015 a0001c0001t0012g0017 |
2 | 3 | 0.6667 | 25 | c.-94 others(42): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72841439 | A | AGGAAGGG others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 7 | 0.1429 | 25 | c.-94 others(42): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02129.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0031 a0001c0001t0004g0018 a0001c0001t0006g0008 others(2): Show |
5 | 6 | 0.8333 | 25 | c.-94 others(42): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01074.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0143 |
2 | 146 | 0.0137 | 25 | c.836 others(40): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119123370 | A | AGAGGGAG others(18): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0086 | 1 | 217 | 0.0046 | 25 | c.110 others(44): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(18): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01517.hp2 |
a0001a0004 | a0001c0004a0004c0003 | a0001c0004t0001a0004c0003t0002 | a0001c0004t0001g0171 a0004c0003t0002g0172 |
2 | 79 | 0.0253 | 25 | c.125 others(40): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(18): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02809.hp2 HG03139.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0025 | a0001c0001t0002a0001c0004t0001a0003c0025t0001 | a0001c0001t0002g0199 a0001c0001t0002g0411 a0001c0004t0001g0032 others(2): Show |
5 | 82 | 0.0610 | 25 | c.125 others(40): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTTTTT others(18): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19005.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0206 a0003c0007t0002g0381 |
2 | 79 | 0.0253 | 25 | c.125 others(40): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(48): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(10): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(11): Show | a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0322 others(45): Show |
51 | 128 | 0.3984 | 25 | c.125 others(40): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170872 | C | CTCTCTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 340 | 0.0029 | 25 | c.-43 others(36): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4260 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170873 | T | TCTCTCTC others(18): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03471.hp1 HG03540.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0114 a0003c0002t0001g0002 a0003c0002t0001g0006 |
3 | 385 | 0.0078 | 25 | c.-43 others(36): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4261 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433813 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0300 | 1 | 336 | 0.0030 | 25 | c.104 others(44): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433950 | A | ATATTATA others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0123 a0004c0005t0001g0211 |
2 | 311 | 0.0064 | 25 | c.104 others(42): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433950 | A | ATATTTTA others(18): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(21): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(4): Show | a0004c0005t0001g0295 a0004c0005t0002g0273 a0004c0005t0002g0274 others(21): Show |
24 | 333 | 0.0721 | 25 | c.104 others(42): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3328187 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0021 | 1 | 350 | 0.0029 | 25 | c.110 others(44): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 12/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3374879 | A | AAGTCCCC others(18): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0009 | a0009c0023 | a0009c0023t0005 | a0009c0023t0005g0327 | 1 | 360 | 0.0028 | 25 | c.505 others(40): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 NA21309.hp2 |
a0050a0073 | a0050c0073a0073c0072 | a0050c0073t0002a0073c0072t0001 | a0050c0073t0002g0123 a0073c0072t0001g0122 |
2 | 32 | 0.0625 | 25 | c.842 others(40): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0015 | a0015c0169 | a0015c0169t0008 | a0015c0169t0008g0116 | 1 | 104 | 0.0096 | 25 | c.385 others(44): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18964.hp2 NA18985.hp2 |
a0129a0193a0201 | a0129c0183a0193c0148a0201c0073 | a0129c0183t0004a0193c0148t0003a0201c0073t0010 | a0129c0183t0004g0211 a0193c0148t0003g0105 a0201c0073t0010g0291 |
3 | 49 | 0.0612 | 25 | c.100 others(44): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789812 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0119 | a0119c0164 | a0119c0164t0005 | a0119c0164t0005g0013 | 1 | 235 | 0.0043 | 25 | c.100 others(44): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01515.hp2 HG02083.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0212 a0002c0002t0001g0006 a0002c0002t0001g0126 others(2): Show |
5 | 103 | 0.0485 | 25 | c.111 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02148.hp2 HG02293.hp1 others(5): Show |
a0002a0005a0010others(1): Show | a0002c0002a0005c0005a0010c0091others(1): Show | a0002c0002t0001a0005c0005t0001a0010c0091t0001others(1): Show | a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0129 others(5): Show |
8 | 106 | 0.0755 | 25 | c.111 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01934.hp2 HG02129.hp2 others(1): Show |
a0001a0010a0026 | a0001c0001a0001c0077a0010c0015others(1): Show | a0001c0001t0001a0001c0077t0001a0010c0015t0001others(1): Show | a0001c0001t0001g0223 a0001c0077t0001g0222 a0010c0015t0001g0243 others(1): Show |
4 | 102 | 0.0392 | 25 | c.111 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0206 |
2 | 83 | 0.0241 | 25 | c.730 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18950.hp2 NA18973.hp2 others(1): Show |
a0001a0005a0012 | a0001c0001a0005c0005a0012c0024 | a0001c0001t0001a0005c0005t0001a0012c0024t0001 | a0001c0001t0001g0226 a0005c0005t0001g0191 a0005c0005t0001g0228 others(1): Show |
4 | 62 | 0.0645 | 25 | c.133 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0010 | 1 | 59 | 0.0169 | 25 | c.133 others(44): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0019 | a0019c0014 | a0019c0014t0001 | a0019c0014t0001g0064 | 1 | 4 | 0.2500 | 25 | c.135 others(44): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225103928 | T | TTGAATAG others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(51): Show |
a0003a0005a0012others(18): Show | a0003c0003a0003c0026a0003c0072others(23): Show | a0003c0003t0001a0003c0026t0001a0003c0072t0001others(23): Show | a0003c0003t0001g0037 a0003c0003t0001g0043 a0003c0003t0001g0050 others(51): Show |
54 | 238 | 0.2269 | 25 | c.386 others(44): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 23/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(18): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 71 | 0.0141 | 25 | c.122 others(44): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78541188 | G | GGGGTGGG others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0056 | a0056c0096 | a0056c0096t0001 | a0056c0096t0001g0046 | 1 | 249 | 0.0040 | 25 | c.253 others(44): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02451.hp2 |
a0014a0072 | a0014c0039a0072c0216 | a0014c0039t0001a0072c0216t0001 | a0014c0039t0001g0211 a0072c0216t0001g0124 |
2 | 50 | 0.0400 | 25 | c.239 others(42): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78570208 | G | GAGGGGAG others(18): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0134 | a0134c0134 | a0134c0134t0001 | a0134c0134t0001g0181 | 1 | 250 | 0.0040 | 25 | c.104 others(40): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 7/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7733475 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0225 | 1 | 295 | 0.0034 | 25 | c.628 others(40): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 5/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7834636 | G | GGGCGGGG others(18): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01361.hp2 HG02145.hp1 |
a0002a0008 | a0002c0003a0002c0054a0008c0036 | a0002c0003t0004a0002c0054t0004a0008c0036t0002 | a0002c0003t0004g0200 a0002c0054t0004g0194 a0008c0036t0002g0074 |
3 | 270 | 0.0111 | 25 | c.*11 others(36): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 895 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0108 | 1 | 116 | 0.0086 | 25 | c.563 others(42): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GAGAGAGA others(18): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0070 | 1 | 35 | 0.0286 | 25 | c.324 others(42): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar |