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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1D_chr17_32487522_32882124 | 32673090 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 244 | 0.0041 | 17 | c.212 others(38): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59217519 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0060 | 1 | 226 | 0.0044 | 17 | c.110 others(34): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59319550 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0064 | 1 | 226 | 0.0044 | 17 | c.4-4 others(32): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553923 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 342 | 0.0029 | 17 | c.327 others(32): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8568422 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0278 | 1 | 342 | 0.0029 | 17 | c.3+8 others(30): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8574577 | T | TTCTTTCT others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0106 | 1 | 342 | 0.0029 | 17 | c.3+2 others(30): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8581130 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0304 others(4): Show |
7 | 342 | 0.0205 | 17 | c.-38 others(28): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 3689 | chr19 | TogoVar | |||||||
MYO1G_chr7_44957662_44984015 | 44983744 | T | TAAGGTGA others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(104): Show |
337 | 378 | 0.8915 | 17 | c.-47 others(28): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 4730 | chr7 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0177 | 1 | 312 | 0.0032 | 17 | c.194 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0252 | 1 | 312 | 0.0032 | 17 | c.194 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0082 | 1 | 312 | 0.0032 | 17 | c.194 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | chr12 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109438086 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0265 | 1 | 312 | 0.0032 | 17 | c.221 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26062530 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01081.hp2 others(5): Show |
a0004 | a0004c0005a0004c0008 | a0004c0005t0002a0004c0005t0006a0004c0008t0007others(1): Show | a0004c0005t0002g0173 a0004c0005t0002g0174 a0004c0005t0002g0175 others(5): Show |
8 | 280 | 0.0286 | 17 | c.954 others(34): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26077233 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0029 | a0029c0037 | a0029c0037t0001 | a0029c0037t0001g0018 | 1 | 280 | 0.0036 | 17 | c.135 others(36): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26081133 | T | TCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0099 | 1 | 280 | 0.0036 | 17 | c.136 others(36): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26199451 | G | GCTAAGGT others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0168 a0009c0021t0002g0169 |
2 | 280 | 0.0071 | 17 | c.454 others(36): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170401796 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0006a0022 | a0006c0021a0022c0035 | a0006c0021t0025a0022c0035t0008 | a0006c0021t0025g0082 a0022c0035t0008g0085 |
2 | 174 | 0.0115 | 17 | c.212 others(34): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170537448 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18939.hp1 |
a0001a0007 | a0001c0005a0007c0009 | a0001c0005t0001a0007c0009t0005 | a0001c0005t0001g0056 a0007c0009t0005g0045 |
2 | 174 | 0.0115 | 17 | c.357 others(36): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170551343 | A | AATTTATT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00733.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(13): Show | a0001c0001t0001g0041 a0001c0001t0003g0029 a0001c0002t0004g0153 others(14): Show |
17 | 174 | 0.0977 | 17 | 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 | 52329905 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0110 a0002c0002t0006g0115 |
2 | 302 | 0.0066 | 17 | c.455 others(34): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 35/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0123 a0002c0002t0006g0130 |
2 | 302 | 0.0066 | 17 | c.220 others(36): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52450848 | T | TTGTTTTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(93): Show |
a0001a0005a0012 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(29): Show | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 others(93): Show |
96 | 302 | 0.3179 | 17 | c.28- others(34): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52450848 | T | TTGTTTTT others(10): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0254 a0001c0006t0014g0255 a0001c0006t0014g0256 others(1): Show |
4 | 302 | 0.0133 | 17 | c.28- others(34): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02922.hp1 others(3): Show |
a0001a0010 | a0001c0006a0010c0019 | a0001c0006t0010a0001c0006t0012a0001c0006t0026others(2): Show | a0001c0006t0010g0074 a0001c0006t0012g0072 a0001c0006t0012g0073 others(3): Show |
6 | 360 | 0.0167 | 17 | c.27+ others(32): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75787693 | T | TATGGGGG others(10): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 358 | 0.0028 | 17 | c.-47 others(36): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | chr6 | TogoVar | |||||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19056.hp1 |
a0001a0002 | a0001c0004a0002c0012 | a0001c0004t0001a0002c0012t0001 | a0001c0004t0001g0219 a0002c0012t0001g0169 |
2 | 282 | 0.0071 | 17 | c.592 others(34): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71860969 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02056.hp1 HG04184.hp1 others(4): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0002a0001c0002t0006a0006c0007t0015 | a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0039 others(4): Show |
7 | 308 | 0.0227 | 17 | c.609 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 33/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 HG02896.hp1 others(1): Show |
a0008 | a0008c0008 | a0008c0008t0005a0008c0008t0049 | a0008c0008t0005g0205 a0008c0008t0005g0206 a0008c0008t0005g0207 others(1): Show |
4 | 308 | 0.0130 | 17 | c.268 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0094 | 1 | 308 | 0.0033 | 17 | c.256 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0047 | a0001c0001t0005g0218 a0001c0002t0047g0083 |
2 | 308 | 0.0065 | 17 | c.256 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0134 | 1 | 308 | 0.0033 | 17 | c.256 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | AATTATAT others(10): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0020 | a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0179 others(4): Show |
7 | 308 | 0.0227 | 17 | c.218 others(36): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02300.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0151a0001c0002t0004a0001c0004t0001 | a0001c0001t0151g0247 a0001c0002t0004g0240 a0001c0004t0001g0100 |
3 | 346 | 0.0087 | 17 | c.56- others(32): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12714362 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0193 | 1 | 346 | 0.0029 | 17 | c.122 others(34): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12719174 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0196 | a0001c0002t0196g0112 | 1 | 346 | 0.0029 | 17 | c.253 others(34): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93370314 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0002a0001c0051 | a0001c0002t0001a0001c0051t0003 | a0001c0002t0001g0038 a0001c0051t0003g0227 |
2 | 240 | 0.0083 | 17 | c.245 others(34): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 24/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93394448 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0142 | 1 | 240 | 0.0042 | 17 | c.141 others(36): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 16/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482845 | T | TTATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0069 | 1 | 240 | 0.0042 | 17 | c.-65 others(26): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 512 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0115 | a0002c0115t0003 | a0002c0115t0003g0218 | 1 | 330 | 0.0030 | 17 | c.*27 others(28): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072350 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0002a0011 | a0002c0044a0011c0138 | a0002c0044t0003a0011c0138t0001 | a0002c0044t0003g0206 a0011c0138t0001g0145 |
2 | 330 | 0.0061 | 17 | c.470 others(34): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072370 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19077.hp2 |
a0003a0005 | a0003c0020a0005c0018 | a0003c0020t0004a0005c0018t0001 | a0003c0020t0004g0303 a0005c0018t0001g0042 |
2 | 330 | 0.0061 | 17 | c.470 others(34): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127306 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02622.hp2 |
a0004a0037 | a0004c0045a0037c0183 | a0004c0045t0001a0037c0183t0001 | a0004c0045t0001g0031 a0037c0183t0001g0016 |
2 | 330 | 0.0061 | 17 | c.279 others(34): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18962.hp2 NA18973.hp1 others(1): Show |
a0001a0003a0008 | a0001c0002a0001c0003a0003c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0003c0004t0001others(1): Show | a0001c0002t0001g0303 a0001c0003t0001g0198 a0003c0004t0001g0327 others(1): Show |
4 | 403 | 0.0099 | 17 | c.345 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120689 | A | AATATATA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18968.hp2 |
a0004a0011 | a0004c0007a0011c0031 | a0004c0007t0002a0011c0031t0001 | a0004c0007t0002g0264 a0011c0031t0001g0376 |
2 | 403 | 0.0050 | 17 | c.345 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2134577 | G | GGGTAGAG others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp1 others(92): Show |
a0001a0002a0003others(34): Show | a0001c0002a0001c0003a0001c0009others(62): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(64): Show | a0001c0002t0001g0220 a0001c0002t0001g0282 a0001c0002t0001g0303 others(92): Show |
95 | 403 | 0.2357 | 17 | c.380 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | chr8 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69878242 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0296 |
2 | 322 | 0.0062 | 17 | c.138 others(32): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69953761 | C | CCACCCCC others(10): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0019 | a0019c0021 | a0019c0021t0002 | a0019c0021t0002g0084 | 1 | 322 | 0.0031 | 17 | c.237 others(34): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40218618 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0004 | a0002c0010t0004g0039 | 1 | 170 | 0.0059 | 17 | c.190 others(36): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0057 | a0001c0001t0036g0044 a0001c0001t0057g0042 |
2 | 410 | 0.0049 | 17 | c.68+ others(32): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64201884 | C | CTGTCGGG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(23): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0071 a0001c0001t0001g0175 a0001c0001t0002g0142 others(23): Show |
26 | 223 | 0.1166 | 17 | c.86+ others(32): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |