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 | 32777285 | GAATCCTA others(8): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0035 | a0035c0029 | a0035c0029t0001 | a0035c0029t0001g0071 | 1 | 126 | 0.0079 | -15 | c.649 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32925145 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02723.hp1 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0027a0003c0008t0012a0003c0008t0015 | a0003c0003t0027g0091a0003c0008t0012g0117a0003c0008t0015g0123 | 3 | 126 | 0.0238 | -15 | c.94- others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79031099 | CGGGCAGC others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00733.hp1 others(99): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0004a0002c0009others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0009t0001others(7): Show | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0021others(89): Show | 102 | 372 | 0.2742 | -15 | c.151 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 9/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79046056 | GTGTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(77): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0028others(68): Show | 80 | 372 | 0.2151 | -15 | c.746 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79050262 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018a0002c0004t0001g0240a0002c0004t0001g0241others(1): Show | 5 | 372 | 0.0134 | -15 | c.745 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79050264 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0001 | a0001c0001t0003g0330a0002c0004t0001g0246 | 2 | 372 | 0.0054 | -15 | c.745 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79050266 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18522.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0184 | 2 | 372 | 0.0054 | -15 | c.745 others(32): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMKN_chr19_35492220_35518649 | 35498352 | ATGGTTTG others(8): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 442 | 0.0023 | -15 | c.143 others(32): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
DMKN_chr19_35492220_35518649 | 35511495 | ACTGCTGC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG02895.hp1 | a0028 | a0028c0050 | a0028c0050t0001 | a0028c0050t0001g0267 | 1 | 442 | 0.0023 | -15 | c.819 others(22): Show |
p.Ser others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1007/1924 | 819/1431 | 273/476 | chr19 | TogoVar | ||
DMKN_chr19_35492220_35518649 | 35511504 | GCCACTGC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG02074.hp1 HG02572.hp2 others(9): Show |
a0014a0017a0034 | a0014c0013a0017c0015a0034c0039 | a0014c0013t0001a0017c0015t0001a0034c0039t0004 | a0014c0013t0001g0019a0014c0013t0001g0089a0014c0013t0001g0118others(7): Show | 12 | 442 | 0.0272 | -15 | c.810 others(22): Show |
p.Gly others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 998/1924 | 810/1431 | 270/476 | chr19 | TogoVar | ||
DMP1_chr4_87645280_87669357 | 87658625 | TTCCATAG others(8): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0077 | 1 | 430 | 0.0023 | -15 | c.103 others(30): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMP1_chr4_87645280_87669357 | 87667357 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0167 | 1 | 430 | 0.0023 | -15 | c.*40 others(26): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 3001 | chr4 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG02280.hp2 NA18946.hp2 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0021a0002c0002t0008 | a0001c0003t0021g0047a0002c0002t0008g0018a0002c0002t0008g0026others(2): Show | 10 | 416 | 0.0240 | -15 | c.*26 others(24): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 269 | chr19 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858863 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286a0001c0001t0001g0287 | 2 | 306 | 0.0065 | -15 | c.538 others(34): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858865 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0297 | 1 | 306 | 0.0033 | -15 | c.538 others(34): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0126a0001c0001t0001g0264a0001c0001t0001g0294others(1): Show | 4 | 306 | 0.0131 | -15 | c.823 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 948903 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 306 | 0.0033 | -15 | c.968 others(34): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72840183 | AAAAGCAA others(8): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG02015.hp1 HG03130.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0003g0009a0001c0001t0008g0006a0001c0001t0009g0011others(4): Show | 7 | 26 | 0.2692 | -15 | c.-94 others(32): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72880587 | GTTTGCTT others(8): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG03471.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0016a0001c0001t0007g0035a0001c0001t0019g0024 | 3 | 54 | 0.0556 | -15 | c.-94 others(32): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843063 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006 | 6 | 402 | 0.0149 | -15 | c.-20 others(26): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1978 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843064 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01109.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0002t0001g0002others(9): Show | 26 | 402 | 0.0647 | -15 | c.-20 others(26): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1977 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843906 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19064.hp2 NA19070.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0012 | 2 | 402 | 0.0050 | -15 | c.-11 others(26): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1135 | chr19 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22056868 | CAGGGTGG others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02602.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0189a0001c0001t0012g0211 | 2 | 324 | 0.0062 | -15 | c.-42 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/16 | 9982 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
DMWD_chr19_45777947_45797845 | 45794413 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 440 | 0.0023 | -15 | c.-16 others(26): Show |
DMWD | ENSG00000185800.12 | transcript | ENST00000270223.7 | protein_coding | 1569 | chr19 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089275 | TACATATA others(8): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0081 | 1 | 238 | 0.0042 | -15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG03098.hp1 |
a0001a0007 | a0001c0008a0007c0012 | a0001c0008t0001a0007c0012t0001 | a0001c0008t0001g0078a0007c0012t0001g0039 | 2 | 238 | 0.0084 | -15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123321 | GGGGAGAG others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162 | 3 | 238 | 0.0126 | -15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123384 | AGGAGGGA others(8): Show |
A | intron_variant | MODIFIER | HG03688.hp1 HG03834.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0020a0001c0006t0002g0022 | 2 | 238 | 0.0084 | -15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123399 | GGGAGGGA others(8): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 238 | 0.0042 | -15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51521455 | AGTAGTAG others(8): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0050 | 1 | 346 | 0.0029 | -15 | c.243 others(34): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51560504 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0311 | 1 | 346 | 0.0029 | -15 | c.567 others(32): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51566233 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0272 | 1 | 346 | 0.0029 | -15 | c.286 others(32): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51583103 | CTTCTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19055.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0209 | 1 | 346 | 0.0029 | -15 | c.88- others(30): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0133 | 1 | 346 | 0.0029 | -15 | c.87+ others(32): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01123.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0051others(18): Show | 24 | 432 | 0.0556 | -15 | c.*42 others(26): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674046 | AAGGAGCA others(8): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01167.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0240a0001c0001t0001g0241a0002c0002t0001g0043others(5): Show | 8 | 276 | 0.0290 | -15 | c.10+ others(30): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(17): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0002 | a0002c0003t0001a0002c0006t0001a0003c0002t0001 | a0002c0003t0001g0010a0002c0003t0001g0012a0002c0003t0001g0041others(5): Show | 20 | 398 | 0.0503 | -15 | c.323 others(30): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 735452 | TGGTGTAG others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0002 | a0002c0017a0002c0025 | a0002c0017t0001a0002c0025t0001 | a0002c0017t0001g0304a0002c0025t0001g0314 | 2 | 378 | 0.0053 | -15 | c.781 others(32): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3247159 | TAAAAAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0311a0001c0001t0007g0312a0001c0001t0007g0313others(2): Show | 5 | 362 | 0.0138 | -15 | c.*53 others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 2146 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02976.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0023 | a0001c0002t0002g0146a0001c0006t0023g0004 | 2 | 362 | 0.0055 | -15 | c.178 others(34): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3319262 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(38): Show |
a0001 | a0001c0004a0001c0018 | a0001c0004t0003a0001c0004t0018a0001c0004t0019others(3): Show | a0001c0004t0003g0069a0001c0004t0003g0074a0001c0004t0003g0078others(38): Show | 41 | 362 | 0.1133 | -15 | c.135 others(32): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3344086 | GACCAATC others(8): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 362 | 0.0028 | -15 | c.790 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911427 | GGGGGGGG others(8): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0065 | a0005c0065t0001 | a0005c0065t0001g0042 | 1 | 170 | 0.0059 | -15 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02148.hp2 HG02683.hp1 others(1): Show |
a0006a0129a0157others(1): Show | a0006c0155a0129c0066a0157c0179others(1): Show | a0006c0155t0003a0129c0066t0003a0157c0179t0001others(1): Show | a0006c0155t0003g0022a0129c0066t0003g0090a0157c0179t0001g0125others(1): Show | 4 | 298 | 0.0134 | -15 | c.744 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21814341 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA18979.hp1 |
a0002a0156 | a0002c0091a0156c0177 | a0002c0091t0002a0156c0177t0002 | a0002c0091t0002g0015a0156c0177t0002g0123 | 2 | 298 | 0.0067 | -15 | c.103 others(36): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 63/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21904784 | GGCCAGAG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(42): Show |
a0007a0008a0009others(36): Show | a0007c0112a0007c0151a0008c0214others(39): Show | a0007c0112t0006a0007c0151t0006a0008c0214t0006others(39): Show | a0007c0112t0006g0094a0007c0151t0006g0025a0008c0214t0006g0175others(42): Show | 45 | 298 | 0.1510 | -15 | c.*35 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2946 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180a0026c0020t0004g0219 | 2 | 266 | 0.0075 | -15 | c.279 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57541571 | GCTCAGAC others(8): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0220 | 1 | 266 | 0.0038 | -15 | c.170 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/73 | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0049a0104 | a0049c0217a0104c0072 | a0049c0217t0001a0104c0072t0001 | a0049c0217t0001g0237a0104c0072t0001g0132 | 2 | 252 | 0.0079 | -15 | c.129 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01258.hp1 HG01261.hp2 others(6): Show |
a0001a0004a0005others(6): Show | a0001c0113a0004c0081a0005c0226others(6): Show | a0001c0113t0001a0004c0081t0001a0005c0226t0002others(6): Show | a0001c0113t0001g0098a0004c0081t0001g0024a0005c0226t0002g0079others(6): Show | 9 | 252 | 0.0357 | -15 | c.775 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar |