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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 33010062 | A | ATATACAC others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 126 | 0.0079 | 22 | c.93+ others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33045315 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 NA20752.hp1 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0001a0003c0003t0002a0005c0007t0001 | a0003c0003t0001g0033a0003c0003t0002g0043a0005c0007t0001g0120 | 3 | 126 | 0.0238 | 22 | c.32- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87653407 | A | ATATATAA others(15): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0070 | 1 | 430 | 0.0023 | 22 | c.-22 others(39): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 NA18982.hp1 NA18983.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006a0002c0002t0003g0014a0002c0002t0003g0051 | 3 | 306 | 0.0098 | 22 | c.-11 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02809.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298a0001c0001t0001g0299a0001c0001t0001g0300others(2): Show | 5 | 306 | 0.0163 | 22 | c.354 others(35): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22054103 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0017a0002c0002t0006others(2): Show | a0001c0001t0001g0070a0001c0001t0017g0271a0002c0002t0006g0010others(5): Show | 9 | 324 | 0.0278 | 22 | c.-32 others(33): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 2710 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079269 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0031 | 1 | 324 | 0.0031 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079273 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0048 | 1 | 324 | 0.0031 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03486.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0119a0001c0001t0001g0185a0001c0001t0001g0210others(1): Show | 4 | 324 | 0.0124 | 22 | c.836 others(37): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119077830 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0226others(2): Show | 5 | 238 | 0.0210 | 22 | c.87+ others(37): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18522.hp2 |
a0001a0013 | a0001c0044a0013c0017 | a0001c0044t0002a0013c0017t0001 | a0001c0044t0002g0046a0013c0017t0001g0213 | 2 | 238 | 0.0084 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01167.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0163a0001c0002t0001g0176a0002c0003t0001g0064others(7): Show | 10 | 238 | 0.0420 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0002a0011c0018t0016 | a0001c0001t0002g0047a0011c0018t0016g0218 | 2 | 238 | 0.0084 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG03209.hp2 others(2): Show |
a0001a0026a0027 | a0001c0004a0026c0025a0027c0022 | a0001c0004t0003a0026c0025t0003a0027c0022t0003 | a0001c0004t0003g0009a0001c0004t0003g0010a0001c0004t0003g0012others(2): Show | 5 | 238 | 0.0210 | 22 | c.668 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119202887 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19030.hp1 |
a0011 | a0011c0018 | a0011c0018t0012a0011c0018t0016 | a0011c0018t0012g0217a0011c0018t0016g0218 | 2 | 238 | 0.0084 | 22 | c.774 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51502306 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0323 | 1 | 346 | 0.0029 | 22 | c.299 others(39): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 17/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG03516.hp2 NA20129.hp1 |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0158a0006c0012t0001g0159a0006c0012t0001g0160 | 3 | 346 | 0.0087 | 22 | c.88- others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68427650 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18747.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0045a0001c0003t0003g0085 | 2 | 326 | 0.0061 | 22 | c.220 others(41): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 14/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68130107 | G | GATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0049a0001c0001t0026g0050 | 2 | 432 | 0.0046 | 22 | c.*11 others(33): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1130 | chr2 | TogoVar | |||||
DNAAF11_chr8_132565416_132680545 | 132593332 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 276 | 0.0036 | 22 | c.114 others(41): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(5): Show | a0001c0001t0002g0185a0001c0001t0003g0011a0001c0001t0003g0175others(12): Show | 16 | 456 | 0.0351 | 22 | c.125 others(37): 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(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01256.hp2 HG01975.hp2 others(7): Show |
a0002a0007a0010others(2): Show | a0002c0002a0007c0010a0010c0013others(2): Show | a0002c0002t0001a0007c0010t0002a0010c0013t0001others(2): Show | a0002c0002t0001g0245a0002c0002t0001g0246a0002c0002t0001g0247others(6): Show | 10 | 456 | 0.0219 | 22 | c.125 others(37): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 456 | 0.0022 | 22 | c.103 others(41): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02698.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0057a0003c0003t0001g0066a0003c0003t0001g0069 | 3 | 352 | 0.0085 | 22 | c.186 others(41): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 398 | 0.0025 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 398 | 0.0025 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0056 | 1 | 398 | 0.0025 | 22 | c.-18 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp2 HG02572.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0017a0003c0002t0001g0002a0003c0002t0001g0006others(3): Show | 9 | 398 | 0.0226 | 22 | c.-43 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170872 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0066 | 1 | 398 | 0.0025 | 22 | c.-43 others(33): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4260 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55455387 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 1 | 338 | 0.0030 | 22 | c.638 others(39): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 781598 | C | CTCCCAGC others(15): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 2 | 378 | 0.0053 | 22 | c.243 others(41): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 781606 | G | GGTGCTCA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01934.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0206a0002c0002t0001g0222a0002c0002t0001g0223others(6): Show | 9 | 378 | 0.0238 | 22 | c.243 others(41): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0311 | 1 | 362 | 0.0028 | 22 | c.278 others(41): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0330 | 1 | 362 | 0.0028 | 22 | c.167 others(41): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0053 | a0053c0057 | a0053c0057t0002 | a0053c0057t0002g0133 | 1 | 170 | 0.0059 | 22 | c.928 others(41): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911342 | G | GGGGTCTG others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0036 | 1 | 170 | 0.0059 | 22 | c.101 others(41): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0062 | a0062c0064 | a0062c0064t0002 | a0062c0064t0002g0207 | 1 | 266 | 0.0038 | 22 | c.997 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACACTAT others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0045 | a0045c0038 | a0045c0038t0002 | a0045c0038t0002g0114 | 1 | 266 | 0.0038 | 22 | c.936 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(15): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0083 | 1 | 266 | 0.0038 | 22 | c.936 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 |
a0010a0018 | a0010c0015a0018c0011 | a0010c0015t0001a0018c0011t0001 | a0010c0015t0001g0153a0018c0011t0001g0071 | 2 | 266 | 0.0075 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0181 | 1 | 266 | 0.0038 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18944.hp1 NA18962.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0197a0005c0005t0001g0221a0005c0005t0001g0240 | 3 | 266 | 0.0113 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0085 | a0001c0085t0001 | a0001c0085t0001g0222 | 1 | 266 | 0.0038 | 22 | c.730 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499673 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0089 | 1 | 266 | 0.0038 | 22 | c.133 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499673 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180a0026c0020t0004g0219 | 2 | 266 | 0.0075 | 22 | c.133 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp2 others(1): Show |
a0002a0004a0053 | a0002c0003a0004c0004a0053c0064 | a0002c0003t0001a0004c0004t0001a0053c0064t0001 | a0002c0003t0001g0041a0004c0004t0001g0053a0004c0004t0001g0054others(1): Show | 4 | 240 | 0.0167 | 22 | c.135 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225075991 | A | AGCCTGGG others(15): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0081 | a0081c0114 | a0081c0114t0001 | a0081c0114t0001g0135 | 1 | 240 | 0.0042 | 22 | c.242 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225075991 | A | AGCCTGGG others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(140): Show |
a0000a0001a0003others(60): Show | a0000c0102a0001c0001a0001c0008others(68): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(70): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(140): Show | 143 | 240 | 0.5958 | 22 | c.242 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225082171 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02004.hp1 |
a0001a0016 | a0001c0001a0016c0018 | a0001c0001t0001a0016c0018t0001 | a0001c0001t0001g0172a0016c0018t0001g0173a0016c0018t0001g0174 | 3 | 240 | 0.0125 | 22 | c.313 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 19/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(8): Show |
a0002a0005a0013others(7): Show | a0002c0003a0005c0005a0013c0014others(7): Show | a0002c0003t0001a0005c0005t0001a0013c0014t0001others(7): Show | a0002c0003t0001g0041a0005c0005t0001g0133a0005c0005t0001g0205others(8): Show | 11 | 240 | 0.0458 | 22 | c.123 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |