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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18939.hp2 NA18970.hp2 others(3): Show |
a0001a0022a0050 | a0001c0001a0022c0028a0050c0090 | a0001c0001t0001a0022c0028t0001a0050c0090t0001 | a0001c0001t0001g0188a0001c0001t0001g0192a0001c0001t0001g0238others(3): Show | 6 | 266 | 0.0226 | 16 | c.133 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0087 | a0001c0087t0001 | a0001c0087t0001g0248 | 1 | 266 | 0.0038 | 16 | c.133 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0041 | a0041c0036 | a0041c0036t0001 | a0041c0036t0001g0087 | 1 | 266 | 0.0038 | 16 | c.133 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG02132.hp1 others(8): Show |
a0002a0012a0014others(5): Show | a0002c0003a0012c0024a0014c0013others(6): Show | a0002c0003t0001a0012c0024t0001a0014c0013t0001others(6): Show | a0002c0003t0001g0059a0012c0024t0001g0060a0012c0024t0001g0079others(8): Show | 11 | 240 | 0.0458 | 16 | c.135 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049773 | C | CCTATCTA others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 NA18999.hp2 |
a0003a0019 | a0003c0002a0019c0016 | a0003c0002t0001a0019c0016t0001 | a0003c0002t0001g0113a0019c0016t0001g0129a0019c0016t0001g0130 | 3 | 240 | 0.0125 | 16 | c.191 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225082171 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(41): Show |
a0001a0003a0005others(18): Show | a0001c0001a0003c0002a0005c0005others(19): Show | a0001c0001t0001a0003c0002t0001a0005c0005t0001others(19): Show | a0001c0001t0001g0132a0001c0001t0001g0147a0001c0001t0001g0149others(41): Show | 44 | 240 | 0.1833 | 16 | c.313 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 19/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225122041 | T | TTAATTAT others(9): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0012 | a0012c0024 | a0012c0024t0001 | a0012c0024t0001g0079 | 1 | 240 | 0.0042 | 16 | c.416 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 26/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225274197 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0024 | a0024c0054 | a0024c0054t0001 | a0024c0054t0001g0222 | 1 | 240 | 0.0042 | 16 | c.801 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335521 | A | ATATGTAC others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0009 | a0009c0126 | a0009c0126t0001 | a0009c0126t0001g0216 | 1 | 240 | 0.0042 | 16 | c.100 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225344691 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0119 | 1 | 240 | 0.0042 | 16 | c.106 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(33): Show |
a0000a0001a0002others(23): Show | a0000c0102a0001c0001a0001c0008others(25): Show | a0000c0102t0003a0001c0001t0001a0001c0008t0001others(25): Show | a0000c0102t0003g0177a0001c0001t0001g0234a0001c0008t0001g0202others(33): Show | 36 | 240 | 0.1500 | 16 | c.123 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374182 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0026 | a0026c0020 | a0026c0020t0001 | a0026c0020t0001g0009 | 1 | 240 | 0.0042 | 16 | c.123 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78540443 | A | ATGGATGG others(9): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0103 | a0103c0075 | a0103c0075t0001 | a0103c0075t0001g0011 | 1 | 252 | 0.0040 | 16 | c.253 others(33): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540447 | A | ATGGGTGG others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00639.hp1 others(63): Show |
a0001a0002a0003others(48): Show | a0001c0001a0001c0020a0001c0109others(60): Show | a0001c0001t0001a0001c0020t0001a0001c0109t0001others(60): Show | a0001c0001t0001g0055a0001c0001t0001g0236a0001c0020t0001g0081others(63): Show | 66 | 252 | 0.2619 | 16 | c.253 others(33): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541139 | G | GGGTGGGG others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003others(32): Show | a0001c0105a0002c0003a0002c0038others(42): Show | a0001c0105t0001a0002c0003t0001a0002c0038t0001others(42): Show | a0001c0105t0001g0053a0002c0003t0001g0221a0002c0038t0001g0213others(44): Show | 47 | 252 | 0.1865 | 16 | c.253 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541146 | G | GGGATGAG others(9): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02083.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0209a0006c0010t0001g0220 | 2 | 252 | 0.0079 | 16 | c.253 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78548202 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0131 | a0131c0159 | a0131c0159t0001 | a0131c0159t0001g0095 | 1 | 252 | 0.0040 | 16 | c.239 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7714124 | C | CGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01167.hp1 others(10): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0002a0001c0002t0002a0001c0009t0002others(8): Show | a0001c0001t0002g0038a0001c0002t0002g0012a0001c0002t0002g0013others(10): Show | 13 | 316 | 0.0411 | 16 | c.-46 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3619 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741236 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01981.hp2 |
a0001a0062 | a0001c0002a0062c0072 | a0001c0002t0004a0062c0072t0007 | a0001c0002t0004g0193a0062c0072t0007g0170 | 2 | 316 | 0.0063 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741293 | T | TCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 316 | 0.0032 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0009 | a0009c0124 | a0009c0124t0001 | a0009c0124t0001g0084 | 1 | 316 | 0.0032 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741303 | T | TTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01175.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0005a0002c0003a0003c0004others(5): Show | a0001c0005t0001a0002c0003t0001a0002c0003t0003others(7): Show | a0001c0005t0001g0093a0001c0005t0001g0133a0002c0003t0001g0104others(9): Show | 12 | 316 | 0.0380 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(9): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18747.hp1 NA18962.hp2 others(1): Show |
a0002a0003a0039others(1): Show | a0002c0007a0003c0004a0039c0092others(1): Show | a0002c0007t0003a0003c0004t0001a0039c0092t0001others(1): Show | a0002c0007t0003g0297a0003c0004t0001g0211a0039c0092t0001g0119others(1): Show | 4 | 316 | 0.0127 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02280.hp2 HG03688.hp2 others(4): Show |
a0001a0006a0020others(3): Show | a0001c0001a0006c0020a0020c0035others(3): Show | a0001c0001t0001a0006c0020t0002a0020c0035t0002others(3): Show | a0001c0001t0001g0226a0001c0001t0001g0227a0006c0020t0002g0039others(4): Show | 7 | 316 | 0.0222 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG00741.hp1 others(9): Show |
a0001a0004a0006others(4): Show | a0001c0001a0001c0009a0004c0025others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(7): Show | a0001c0001t0001g0113a0001c0001t0002g0053a0001c0009t0001g0169others(9): Show | 12 | 316 | 0.0380 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0003others(7): Show | a0001c0029a0002c0015a0003c0033others(7): Show | a0001c0029t0003a0002c0015t0003a0003c0033t0001others(7): Show | a0001c0029t0003g0301a0002c0015t0003g0298a0003c0033t0001g0243others(7): Show | 10 | 316 | 0.0317 | 16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7752160 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0047 | a0004c0047t0001 | a0004c0047t0001g0206 | 1 | 316 | 0.0032 | 16 | c.190 others(35): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7752160 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(86): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0006others(52): Show | a0001c0001t0001a0001c0005t0003a0001c0005t0004others(64): Show | a0001c0001t0001g0108a0001c0001t0001g0113a0001c0001t0001g0137others(86): Show | 89 | 316 | 0.2817 | 16 | c.190 others(35): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7793447 | T | TTCTTTTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02040.hp2 HG02698.hp2 others(4): Show |
a0002a0007a0023others(3): Show | a0002c0007a0002c0104a0007c0041others(4): Show | a0002c0007t0001a0002c0104t0002a0007c0041t0001others(4): Show | a0002c0007t0001g0139a0002c0104t0002g0014a0007c0041t0001g0105others(4): Show | 7 | 316 | 0.0222 | 16 | c.756 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19090.hp2 |
a0019a0054 | a0019c0023a0054c0101 | a0019c0023t0001a0054c0101t0001 | a0019c0023t0001g0146a0054c0101t0001g0058 | 2 | 234 | 0.0086 | 16 | c.755 others(35): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02155.hp1 HG02683.hp2 others(7): Show |
a0004a0006a0011others(3): Show | a0004c0007a0004c0081a0006c0008others(4): Show | a0004c0007t0001a0004c0081t0001a0006c0008t0001others(4): Show | a0004c0007t0001g0169a0004c0007t0001g0170a0004c0007t0001g0218others(7): Show | 10 | 234 | 0.0427 | 16 | c.563 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020375 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0146 | 1 | 234 | 0.0043 | 16 | c.563 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020398 | T | TAAAATCA others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0022 | 1 | 234 | 0.0043 | 16 | c.563 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21023784 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0132 | 1 | 234 | 0.0043 | 16 | c.550 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 39/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0028a0002c0004t0001g0032 | 2 | 234 | 0.0086 | 16 | c.450 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 |
a0001a0032 | a0001c0026a0032c0054 | a0001c0026t0001a0032c0054t0001 | a0001c0026t0001g0119a0032c0054t0001g0180 | 2 | 234 | 0.0086 | 16 | c.324 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21099233 | C | CATGGATG others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0105 | 1 | 234 | 0.0043 | 16 | c.222 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 16/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713197 | G | GTATATAC others(9): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0085 | a0085c0046 | a0085c0046t0003 | a0085c0046t0003g0235 | 1 | 252 | 0.0040 | 16 | c.131 others(37): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778539 | G | GAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02145.hp2 others(5): Show |
a0001a0016a0023others(4): Show | a0001c0006a0016c0200a0023c0022others(4): Show | a0001c0006t0002a0001c0006t0023a0016c0200t0016others(5): Show | a0001c0006t0002g0120a0001c0006t0023g0233a0016c0200t0016g0217others(5): Show | 8 | 252 | 0.0318 | 16 | c.895 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778594 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0128 | a0001c0128t0005 | a0001c0128t0005g0012 | 1 | 252 | 0.0040 | 16 | c.895 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18993.hp2 |
a0026a0078 | a0026c0005a0078c0104 | a0026c0005t0001a0078c0104t0002 | a0026c0005t0001g0022a0078c0104t0002g0031 | 2 | 252 | 0.0079 | 16 | c.895 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13825346 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(19): Show |
a0006a0008a0016others(14): Show | a0006c0003a0008c0026a0008c0056others(15): Show | a0006c0003t0002a0008c0026t0002a0008c0056t0003others(15): Show | a0006c0003t0002g0070a0006c0003t0002g0083a0008c0026t0002g0036others(19): Show | 22 | 252 | 0.0873 | 16 | c.644 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 38/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842423 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0092 | a0092c0114 | a0092c0114t0001 | a0092c0114t0001g0141 | 1 | 252 | 0.0040 | 16 | c.527 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02165.hp1 HG02523.hp1 others(3): Show |
a0008a0012a0013others(3): Show | a0008c0056a0012c0084a0013c0004others(3): Show | a0008c0056t0003a0012c0084t0001a0013c0004t0001others(3): Show | a0008c0056t0003g0250a0012c0084t0001g0059a0013c0004t0001g0090others(3): Show | 6 | 252 | 0.0238 | 16 | c.527 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02886.hp1 |
a0116a0142a0146 | a0116c0139a0142c0191a0146c0193 | a0116c0139t0002a0142c0191t0002a0146c0193t0001 | a0116c0139t0002g0199a0142c0191t0002g0186a0146c0193t0001g0193 | 3 | 252 | 0.0119 | 16 | c.459 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0101 | 1 | 116 | 0.0086 | 16 | c.-17 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 116 | 0.0086 | 16 | c.160 others(31): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84598127 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 NA18906.hp1 others(1): Show |
a0001a0007a0013 | a0001c0024a0007c0009a0007c0047others(1): Show | a0001c0024t0001a0007c0009t0001a0007c0047t0001others(1): Show | a0001c0024t0001g0030a0007c0009t0001g0037a0007c0047t0001g0036others(1): Show | 4 | 116 | 0.0345 | 16 | c.286 others(35): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTCTC others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0029a0001c0035others(7): Show | a0001c0001t0001a0001c0029t0001a0001c0035t0001others(7): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0056others(15): Show | 18 | 116 | 0.1552 | 16 | c.286 others(35): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84753755 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18954.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0004a0003c0002t0001g0008 | 2 | 116 | 0.0172 | 16 | c.105 others(37): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 63/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |