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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO16_chr13_108624611_109213005 | 108874693 | CATCATTA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01978.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0017a0001c0022a0002c0001others(2): Show | a0001c0017t0020a0001c0022t0001a0002c0001t0002others(2): Show | a0001c0017t0020g0117 a0001c0022t0001g0072 a0002c0001t0002g0005 others(2): Show |
5 | 152 | 0.0329 | -15 | c.142 others(34): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108874696 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0004a0001c0005t0001 | a0001c0002t0004g0033 a0001c0005t0001g0110 |
2 | 152 | 0.0132 | -15 | c.142 others(34): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25780590 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(85): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0020a0001c0021others(55): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(56): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0061 others(85): Show |
88 | 228 | 0.3860 | -15 | c.221 others(32): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01993.hp2 others(14): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0006a0002c0011others(9): Show | a0001c0005t0001a0001c0006t0001a0002c0011t0001others(9): Show | a0001c0005t0001g0053 a0001c0006t0001g0036 a0001c0006t0001g0037 others(14): Show |
17 | 228 | 0.0746 | -15 | c.252 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25836964 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(105): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0005a0001c0006others(69): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(71): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0061 others(105): Show |
108 | 228 | 0.4737 | -15 | c.320 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25999531 | TCCTCCCC others(8): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 HG03486.hp2 others(2): Show |
a0004a0006a0011others(2): Show | a0004c0090a0006c0017a0011c0138others(2): Show | a0004c0090t0001a0006c0017t0001a0011c0138t0001others(2): Show | a0004c0090t0001g0018 a0006c0017t0001g0043 a0011c0138t0001g0013 others(2): Show |
5 | 228 | 0.0219 | -15 | c.628 others(34): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36513330 | TCCTCAGG others(8): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 373 | 0.0027 | -15 | c.894 others(28): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 11/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG03239.hp1 NA18974.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0278 others(4): Show |
7 | 373 | 0.0188 | -15 | c.415 others(32): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518514 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00621.hp2 others(14): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0002t0004a0002c0021t0001 | a0002c0002t0001g0013 a0002c0002t0001g0279 a0002c0002t0001g0292 others(13): Show |
17 | 373 | 0.0456 | -15 | c.415 others(32): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518516 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 NA19055.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0280 a0002c0002t0001g0312 a0002c0002t0001g0324 others(2): Show |
5 | 373 | 0.0134 | -15 | c.415 others(32): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518518 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01255.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 a0002c0002t0001g0267 a0002c0002t0001g0307 others(4): Show |
8 | 373 | 0.0215 | -15 | c.415 others(32): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO1C_chr17_1459186_1497686 | 1464482 | GGCGCTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03490.hp2 HG04184.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0015 | a0001c0001t0015g0101 a0001c0003t0015g0121 |
2 | 430 | 0.0047 | -15 | c.*12 others(26): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 32/32 | 1229 | chr17 | TogoVar | ||||||
MYO1C_chr17_1459186_1497686 | 1484445 | GGGGCCTG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(115): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0028 a0001c0001t0001g0068 a0001c0001t0001g0080 others(114): Show |
118 | 430 | 0.2744 | -15 | c.76- others(28): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 1/31 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32514239 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0104 | 1 | 244 | 0.0041 | -15 | c.286 others(36): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32580289 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0169 | 1 | 244 | 0.0041 | -15 | c.286 others(36): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32673090 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0002g0046 a0001c0001t0003g0125 a0001c0001t0010g0045 others(3): Show |
6 | 244 | 0.0246 | -15 | c.212 others(36): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32864007 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0033 | a0001c0001t0012g0091 a0001c0001t0033g0090 |
2 | 244 | 0.0082 | -15 | c.95+ others(32): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59170159 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0001 | 1 | 226 | 0.0044 | -15 | c.248 others(34): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 22/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59209815 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0064 | 1 | 226 | 0.0044 | -15 | c.136 others(32): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 13/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59213136 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 226 | 0.0044 | -15 | c.127 others(34): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282952 | GGAGAGGG others(8): Show |
G | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 226 | 0.0044 | -15 | c.4-1 others(30): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8532900 | AAATACAC others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 342 | 0.0029 | -15 | c.204 others(34): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 19/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543729 | GTGGTGCT others(8): Show |
G | intron_variant | MODIFIER | NA18972.hp1 NA18998.hp1 NA19005.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0006a0002c0004t0002 | a0001c0001t0002g0167 a0001c0001t0006g0296 a0002c0004t0002g0222 |
3 | 342 | 0.0088 | -15 | c.152 others(32): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543933 | GTGGTGCT others(8): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 342 | 0.0029 | -15 | c.152 others(32): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8555376 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01070.hp1 others(3): Show |
a0001a0006 | a0001c0009a0001c0010a0006c0024 | a0001c0009t0001a0001c0010t0001a0001c0010t0003others(2): Show | a0001c0009t0001g0049 a0001c0009t0001g0051 a0001c0010t0001g0156 others(3): Show |
6 | 342 | 0.0175 | -15 | c.141 others(30): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 2/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8565106 | GTCTGTAA others(8): Show |
G | intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0023 | 1 | 342 | 0.0029 | -15 | c.4-9 others(28): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8581130 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0123 a0001c0001t0001g0137 others(9): Show |
12 | 342 | 0.0351 | -15 | c.-38 others(26): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | |||||||
MYO1G_chr7_44957662_44984015 | 44961720 | AGCTGAGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -15 | c.*10 others(26): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 941 | chr7 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109409237 | CTTCTTCT others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01517.hp1 HG03490.hp2 others(6): Show |
a0001a0003a0005 | a0001c0005a0003c0002a0005c0007 | a0001c0005t0003a0003c0002t0002a0005c0007t0001 | a0001c0005t0003g0098 a0001c0005t0003g0196 a0003c0002t0002g0005 others(6): Show |
9 | 312 | 0.0289 | -15 | c.115 others(32): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109415906 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0002a0001c0016t0002 | a0001c0004t0002g0207 a0001c0016t0002g0071 |
2 | 312 | 0.0064 | -15 | c.159 others(32): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427896 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0223 | 1 | 312 | 0.0032 | -15 | c.194 others(32): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427898 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0233 | 1 | 312 | 0.0032 | -15 | c.194 others(32): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26010462 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0038 | a0002c0038t0017 | a0002c0038t0017g0185 | 1 | 280 | 0.0036 | -15 | c.509 others(32): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26049661 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG06807.hp1 |
a0016a0024 | a0016c0039a0024c0043 | a0016c0039t0015a0024c0043t0007 | a0016c0039t0015g0265 a0024c0043t0007g0183 |
2 | 280 | 0.0071 | -15 | c.954 others(34): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170372118 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG03098.hp2 others(2): Show |
a0001a0004a0011others(2): Show | a0001c0004a0004c0013a0011c0055others(2): Show | a0001c0004t0002a0004c0013t0001a0011c0055t0004others(2): Show | a0001c0004t0002g0149 a0004c0013t0001g0004 a0011c0055t0004g0127 others(2): Show |
5 | 174 | 0.0287 | -15 | c.971 others(32): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170554479 | ACAGATGT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0155 a0001c0002t0004g0143 |
2 | 174 | 0.0115 | -15 | c.373 others(36): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0243 | 1 | 302 | 0.0033 | -15 | c.471 others(32): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52329905 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02630.hp2 others(2): Show |
a0003a0004 | a0003c0014a0004c0007 | a0003c0014t0008a0004c0007t0008 | a0003c0014t0008g0052 a0004c0007t0008g0047 a0004c0007t0008g0048 others(2): Show |
5 | 302 | 0.0166 | -15 | c.455 others(32): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 35/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52371878 | GTAATAAT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0004a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(43): Show | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 others(125): Show |
128 | 302 | 0.4238 | -15 | c.281 others(32): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 21/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49997267 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 238 | 0.0042 | -15 | c.612 others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 5/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50030876 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01099.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0006a0001c0001t0017a0001c0001t0032others(14): Show | a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0221 others(19): Show |
22 | 238 | 0.0924 | -15 | c.455 others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 4/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0011 | 1 | 238 | 0.0042 | -15 | c.28- others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03490.hp1 NA18955.hp1 |
a0002a0003a0014 | a0002c0021a0003c0004a0014c0043 | a0002c0021t0005a0003c0004t0003a0014c0043t0004 | a0002c0021t0005g0068 a0003c0004t0003g0112 a0014c0043t0004g0079 |
3 | 238 | 0.0126 | -15 | c.27+ others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02717.hp2 NA19043.hp2 |
a0002a0004a0008 | a0002c0002a0004c0012a0008c0010 | a0002c0002t0035a0004c0012t0004a0008c0010t0022 | a0002c0002t0035g0105 a0004c0012t0004g0326 a0008c0010t0022g0340 |
3 | 360 | 0.0083 | -15 | c.*31 others(26): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52195962 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0018 | a0018c0034 | a0018c0034t0033 | a0018c0034t0033g0346 | 1 | 360 | 0.0028 | -15 | c.499 others(32): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 39/40 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52232107 | AAGAAAAG others(8): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0341 | 1 | 360 | 0.0028 | -15 | c.302 others(32): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75768326 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0070 others(41): Show |
44 | 358 | 0.1229 | -15 | c.-48 others(34): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75784776 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0009a0001c0001t0018a0001c0001t0028others(16): Show | a0001c0001t0009g0319 a0001c0001t0009g0321 a0001c0001t0009g0322 others(33): Show |
36 | 358 | 0.1006 | -15 | c.-47 others(34): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75794734 | AAAAAATA others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02293.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0024a0001c0001t0081a0001c0001t0130others(5): Show | a0001c0001t0024g0135 a0001c0001t0081g0218 a0001c0001t0130g0158 others(7): Show |
10 | 358 | 0.0279 | -15 | c.-47 others(34): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75916811 | CATATTTA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0075 | a0001c0002t0075g0251 | 1 | 358 | 0.0028 | -15 | c.*18 others(26): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 35/35 | 1801 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |