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 | 57361444 | C | CACTATAT others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0007 | a0007c0008a0007c0016 | a0007c0008t0002a0007c0016t0001 | a0007c0008t0002g0081a0007c0016t0001g0045 | 2 | 266 | 0.0075 | 24 | c.936 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0243 | 1 | 266 | 0.0038 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 266 | 0.0038 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18992.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0224a0005c0005t0001g0227 | 2 | 266 | 0.0075 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02083.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0229a0005c0005t0001g0233 | 2 | 266 | 0.0075 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57422588 | A | AGGACCAG others(17): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0050 | a0050c0090 | a0050c0090t0001 | a0050c0090t0001g0182 | 1 | 266 | 0.0038 | 24 | c.537 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0255 | 2 | 266 | 0.0075 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0235 | 2 | 266 | 0.0075 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0086 | a0001c0086t0001 | a0001c0086t0001g0249 | 1 | 266 | 0.0038 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0048 | 1 | 266 | 0.0038 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03704.hp1 NA18950.hp2 |
a0004a0013a0052 | a0004c0004a0013c0014a0052c0065 | a0004c0004t0001a0013c0014t0001a0052c0065t0001 | a0004c0004t0001g0049a0013c0014t0001g0081a0052c0065t0001g0055 | 3 | 240 | 0.0125 | 24 | c.135 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225075989 | C | CTGCGGCC others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03834.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0150a0005c0005t0001g0238 | 2 | 240 | 0.0083 | 24 | c.242 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335545 | G | GTATATAC others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02818.hp1 others(2): Show |
a0004a0044a0103 | a0004c0004a0004c0083a0044c0077others(1): Show | a0004c0004t0001a0004c0083t0001a0044c0077t0001others(1): Show | a0004c0004t0001g0053a0004c0004t0001g0054a0004c0083t0001g0023others(2): Show | 5 | 240 | 0.0208 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335545 | G | GTATGTAC others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01496.hp2 others(12): Show |
a0002a0004a0012others(3): Show | a0002c0003a0002c0073a0004c0004others(4): Show | a0002c0003t0001a0002c0073t0001a0004c0004t0001others(4): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(12): Show | 15 | 240 | 0.0625 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335767 | G | GCATATAT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18974.hp2 NA19091.hp1 |
a0006a0082a0109 | a0006c0006a0082c0093a0109c0044 | a0006c0006t0001a0082c0093t0001a0109c0044t0001 | a0006c0006t0001g0137a0082c0093t0001g0188a0109c0044t0001g0058 | 3 | 240 | 0.0125 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335800 | T | TATATGTA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0073 | a0073c0118 | a0073c0118t0001 | a0073c0118t0001g0192 | 1 | 240 | 0.0042 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335874 | T | TATGTACA others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0104 | a0104c0039 | a0104c0039t0001 | a0104c0039t0001g0103 | 1 | 240 | 0.0042 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18612.hp1 NA18951.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0164a0001c0001t0001g0182a0001c0008t0001g0152others(5): Show | 8 | 240 | 0.0333 | 24 | c.123 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(63): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0008others(58): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(59): Show | a0001c0001t0001g0178a0001c0001t0001g0236a0001c0001t0003g0249others(63): Show | 66 | 252 | 0.2619 | 24 | c.122 others(42): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03540.hp1 |
a0033a0090 | a0033c0074a0090c0095 | a0033c0074t0001a0090c0095t0001 | a0033c0074t0001g0005a0090c0095t0001g0084 | 2 | 252 | 0.0079 | 24 | c.239 others(41): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02004.hp1 HG02148.hp2 |
a0001a0004a0049 | a0001c0002a0004c0047a0049c0085 | a0001c0002t0004a0004c0047t0001a0049c0085t0004 | a0001c0002t0004g0193a0004c0047t0001g0206a0049c0085t0004g0199 | 3 | 316 | 0.0095 | 24 | c.229 others(41): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741232 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0008 | a0008c0138 | a0008c0138t0001 | a0008c0138t0001g0218 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0007 | a0007c0019 | a0007c0019t0003 | a0007c0019t0003g0313 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0028 | a0001c0028t0004 | a0001c0028t0004g0233 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18960.hp1 NA19057.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0147a0003c0004t0001g0209a0003c0004t0001g0210 | 3 | 316 | 0.0095 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18943.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0125a0003c0004t0001g0146 | 2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0116 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 |
a0003a0016 | a0003c0004a0016c0043 | a0003c0004t0003a0016c0043t0002 | a0003c0004t0003g0278a0016c0043t0002g0081 | 2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18956.hp1 |
a0001a0041 | a0001c0001a0041c0089 | a0001c0001t0002a0041c0089t0002 | a0001c0001t0002g0048a0041c0089t0002g0006 | 2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001a0004 | a0001c0063a0004c0025 | a0001c0063t0001a0004c0025t0002 | a0001c0063t0001g0249a0004c0025t0002g0019 | 2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0153 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG04115.hp1 NA18612.hp1 others(4): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0007a0006c0020others(4): Show | a0001c0001t0002a0002c0007t0001a0006c0020t0002others(4): Show | a0001c0001t0002g0038a0002c0007t0001g0139a0006c0020t0002g0039others(4): Show | 7 | 316 | 0.0222 | 24 | c.190 others(43): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20980241 | A | ATATAATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0040 | a0040c0084 | a0040c0084t0001 | a0040c0084t0001g0178 | 1 | 234 | 0.0043 | 24 | c.772 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0146 | 1 | 234 | 0.0043 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(7): Show |
a0001a0003a0050 | a0001c0002a0003c0005a0050c0075 | a0001c0002t0001a0003c0005t0001a0050c0075t0001 | a0001c0002t0001g0172a0001c0002t0001g0192a0001c0002t0001g0193others(7): Show | 10 | 234 | 0.0427 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0003 | 1 | 234 | 0.0043 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21023784 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0151 | 1 | 234 | 0.0043 | 24 | c.550 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 39/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18962.hp2 NA19002.hp2 others(2): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0174a0002c0006t0001g0064a0002c0006t0001g0066others(2): Show | 5 | 234 | 0.0214 | 24 | c.324 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21072828 | T | TTATTATT others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0119 | 1 | 234 | 0.0043 | 24 | c.294 others(43): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 21/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778539 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02300.hp2 HG02896.hp2 |
a0013a0022a0105 | a0013c0004a0022c0020a0105c0064 | a0013c0004t0001a0022c0020t0001a0105c0064t0001 | a0013c0004t0001g0111a0022c0020t0001g0067a0105c0064t0001g0021 | 3 | 252 | 0.0119 | 24 | c.895 others(43): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0113 | a0113c0133 | a0113c0133t0007 | a0113c0133t0007g0010 | 1 | 252 | 0.0040 | 24 | c.895 others(43): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842423 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0134 | a0134c0158 | a0134c0158t0001 | a0134c0158t0001g0197 | 1 | 252 | 0.0040 | 24 | c.527 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 NA18522.hp1 |
a0014a0051a0109 | a0014c0131a0051c0203a0109c0124 | a0014c0131t0005a0051c0203t0002a0109c0124t0005 | a0014c0131t0005g0011a0051c0203t0002g0230a0109c0124t0005g0009 | 3 | 252 | 0.0119 | 24 | c.527 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18522.hp1 |
a0108a0109 | a0108c0042a0109c0124 | a0108c0042t0001a0109c0124t0005 | a0108c0042t0001g0069a0109c0124t0005g0009 | 2 | 252 | 0.0079 | 24 | c.459 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0104 | 1 | 116 | 0.0086 | 24 | c.-17 others(35): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84598127 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0070 | 1 | 116 | 0.0086 | 24 | c.286 others(43): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02886.hp1 HG03041.hp2 |
a0001a0010 | a0001c0034a0001c0036a0010c0016 | a0001c0034t0004a0001c0036t0003a0010c0016t0001 | a0001c0034t0004g0047a0001c0036t0003g0060a0010c0016t0001g0084 | 3 | 116 | 0.0259 | 24 | c.286 others(43): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03704.hp2 NA18998.hp1 others(3): Show |
a0001a0015 | a0001c0001a0015c0014 | a0001c0001t0002a0015c0014t0002 | a0001c0001t0002g0168a0001c0001t0002g0195a0001c0001t0002g0197others(3): Show | 6 | 256 | 0.0234 | 24 | c.114 others(45): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778677 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01261.hp2 others(7): Show |
a0006a0007a0013others(2): Show | a0006c0005a0007c0008a0013c0016others(2): Show | a0006c0005t0007a0007c0008t0001a0013c0016t0001others(2): Show | a0006c0005t0007g0008a0006c0005t0007g0009a0006c0005t0007g0010others(7): Show | 10 | 256 | 0.0391 | 24 | c.108 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01981.hp2 others(8): Show |
a0001a0025 | a0001c0001a0001c0006a0025c0042 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0233a0001c0001t0002g0161a0001c0001t0002g0162others(8): Show | 11 | 256 | 0.0430 | 24 | c.183 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar |