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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0027 others(66): Show |
80 | 129 | 0.6202 | -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 | a0002c0004t0001g0025 a0002c0004t0001g0232 a0002c0004t0001g0233 others(1): Show |
5 | 366 | 0.0137 | -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 | a0001c0001t0003g0034 a0002c0004t0001g0238 |
2 | 354 | 0.0056 | -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 | a0001c0001t0001g0023 a0001c0001t0001g0178 |
2 | 355 | 0.0056 | -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 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 440 | 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 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0247 | 1 | 440 | 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 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0001a0004c0010t0004 | a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0071 others(7): Show |
12 | 440 | 0.0273 | -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 | a0002c0001t0010g0078 | 1 | 428 | 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 | a0001c0003t0002g0168 | 1 | 426 | 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 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0006 a0002c0002t0001g0010 a0002c0002t0001g0013 others(1): Show |
10 | 15 | 0.6667 | -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 | a0001c0001t0001g0286 a0001c0001t0001g0287 |
2 | 226 | 0.0088 | -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 | 251 | 0.0040 | -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 | a0001c0001t0001g0126 a0001c0001t0001g0264 a0001c0001t0001g0294 others(1): Show |
4 | 19 | 0.2105 | -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 | 147 | 0.0068 | -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 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0004g0020 a0001c0001t0008g0018 a0001c0001t0010g0016 others(4): Show |
7 | 8 | 0.8750 | -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 | a0001c0001t0002a0001c0001t0007a0001c0001t0017 | a0001c0001t0002g0016 a0001c0001t0007g0035 a0001c0001t0017g0024 |
3 | 4 | 0.7500 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 |
6 | 339 | 0.0177 | -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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0002t0001g0002 others(8): Show |
26 | 399 | 0.0652 | -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 | a0001c0002t0001g0003 a0001c0002t0001g0012 |
2 | 173 | 0.0116 | -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 | a0001c0001t0012g0162 a0001c0001t0012g0167 |
2 | 322 | 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 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 52 | 0.0192 | -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 | a0001c0008t0001g0083 | 1 | 234 | 0.0043 | -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 |
a0001a0009 | a0001c0008a0009c0013 | a0001c0008t0001a0009c0013t0001 | a0001c0008t0001g0080 a0009c0013t0001g0040 |
2 | 8 | 0.2500 | -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 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 |
3 | 111 | 0.0270 | -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 | a0001c0006t0002g0021 a0001c0006t0002g0022 |
2 | 235 | 0.0085 | -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 | a0001c0001t0001g0199 | 1 | 142 | 0.0070 | -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 | a0002c0011t0002g0051 | 1 | 344 | 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 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0305 | 1 | 128 | 0.0078 | -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 | a0002c0008t0001g0266 | 1 | 344 | 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 | a0004c0005t0001g0203 | 1 | 344 | 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 | a0005c0015t0004g0129 | 1 | 166 | 0.0060 | -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 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0051 others(18): Show |
24 | 124 | 0.1935 | -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 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0002c0002t0001g0041 others(5): Show |
8 | 272 | 0.0294 | -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 | a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0038 others(5): Show |
20 | 140 | 0.1429 | -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 | a0002c0017t0001g0302 a0002c0025t0001g0312 |
2 | 376 | 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 | a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 others(2): Show |
5 | 104 | 0.0481 | -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 | a0001c0002t0002g0149 a0001c0006t0023g0005 |
2 | 88 | 0.0227 | -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 | a0001c0004t0003g0070 a0001c0004t0003g0075 a0001c0004t0003g0079 others(38): Show |
41 | 130 | 0.3154 | -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 | a0001c0002t0002g0166 | 1 | 360 | 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 | a0005c0065t0001g0043 | 1 | 168 | 0.0060 | -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 |
a0005a0107a0126others(1): Show | a0005c0155a0107c0179a0126c0232others(1): Show | a0005c0155t0003a0107c0179t0001a0126c0232t0003others(1): Show | a0005c0155t0003g0022 a0107c0179t0001g0125 a0126c0232t0003g0208 others(1): Show |
4 | 14 | 0.2857 | -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 |
a0001a0184 | a0001c0091a0184c0177 | a0001c0091t0002a0184c0177t0002 | a0001c0091t0002g0015 a0184c0177t0002g0123 |
2 | 296 | 0.0068 | -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 |
a0006a0007a0008others(36): Show | a0006c0214a0006c0266a0007c0270others(39): Show | a0006c0214t0006a0006c0266t0005a0007c0270t0006others(39): Show | a0006c0214t0006g0174 a0006c0266t0005g0137 a0007c0270t0006g0148 others(42): Show |
45 | 296 | 0.1520 | -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 |
a0020 | a0020c0020 | a0020c0020t0004 | a0020c0020t0004g0180 a0020c0020t0004g0219 |
2 | 23 | 0.0870 | -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 | a0012 | a0012c0024 | a0012c0024t0001 | a0012c0024t0001g0220 | 1 | 264 | 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 |
a0069a0099 | a0069c0217a0099c0072 | a0069c0217t0001a0099c0072t0001 | a0069c0217t0001g0237 a0099c0072t0001g0132 |
2 | 7 | 0.2857 | -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 |
a0001a0003a0005others(6): Show | a0001c0113a0003c0081a0005c0226others(6): Show | a0001c0113t0001a0003c0081t0001a0005c0226t0002others(6): Show | a0001c0113t0001g0098 a0003c0081t0001g0024 a0005c0226t0002g0079 others(6): Show |
9 | 38 | 0.2368 | -15 | c.775 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78503169 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0108 | a0108c0224 | a0108c0224t0001 | a0108c0224t0001g0120 | 1 | 7 | 0.1429 | -15 | c.495 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78553283 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0191 | 1 | 181 | 0.0055 | -15 | c.217 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78553305 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0178 | a0002c0178t0001 | a0002c0178t0001g0150 | 1 | 250 | 0.0040 | -15 | c.217 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar |