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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO5B_chr18_49817789_50200147 | 50122439 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18980.hp2 NA19009.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0189 a0002c0003t0002g0165 a0002c0003t0002g0186 others(1): Show |
4 | 238 | 0.0168 | 15 | c.28- others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122632 | G | GAGAGAAA others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 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 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0002a0002c0009t0002 | a0001c0002t0002g0211 a0002c0009t0002g0114 |
2 | 238 | 0.0084 | 15 | c.27+ others(32): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52291737 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG06807.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0007a0001c0007t0009 | a0001c0003t0007g0108 a0001c0007t0009g0107 |
2 | 360 | 0.0056 | 15 | c.27+ others(30): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77190578 | T | TGCTGGGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(221): Show |
a0001a0003a0004others(28): Show | a0001c0003a0001c0005a0001c0018others(91): Show | a0001c0003t0001a0001c0005t0001a0001c0018t0001others(92): Show | a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0045 others(212): Show |
224 | 356 | 0.6292 | 15 | c.375 others(32): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 29/48 | chr11 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71860969 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01123.hp2 others(21): Show |
a0001a0008a0012others(3): Show | a0001c0002a0008c0009a0012c0014others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0038others(7): Show | a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 others(21): Show |
24 | 308 | 0.0779 | 15 | c.609 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 33/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0035 | a0001c0035t0014 | a0001c0035t0014g0146 | 1 | 308 | 0.0033 | 15 | c.268 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0025 | a0025c0031 | a0025c0031t0021 | a0025c0031t0021g0017 | 1 | 308 | 0.0033 | 15 | c.268 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0079 | 1 | 308 | 0.0033 | 15 | c.256 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71953873 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18966.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 |
3 | 308 | 0.0097 | 15 | c.218 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | AATTATAT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG02074.hp1 others(8): Show |
a0001a0027 | a0001c0001a0027c0032 | a0001c0001t0001a0001c0001t0026a0027c0032t0033 | a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0143 others(8): Show |
11 | 308 | 0.0357 | 15 | c.218 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72052967 | A | AAAGTATC others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01891.hp1 others(43): Show |
a0002a0003a0008others(1): Show | a0002c0003a0003c0004a0008c0009others(2): Show | a0002c0003t0003a0002c0003t0009a0002c0003t0010others(11): Show | a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0241 others(43): Show |
46 | 308 | 0.1494 | 15 | c.-71 others(32): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72103411 | A | AAGCAGCA others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0120 others(6): Show |
9 | 308 | 0.0292 | 15 | c.-72 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17094015 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 262 | 0.0038 | 15 | c.-58 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17123424 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 262 | 0.0038 | 15 | c.840 others(34): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | chr19 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17194172 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp1 HG01515.hp1 others(5): Show |
a0001a0020 | a0001c0001a0001c0010a0001c0019others(1): Show | a0001c0001t0001a0001c0010t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0120 a0001c0001t0001g0214 others(5): Show |
8 | 262 | 0.0305 | 15 | c.312 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17197395 | G | GGATAGAT others(8): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0061 | a0007c0061t0001 | a0007c0061t0001g0046 | 1 | 262 | 0.0038 | 15 | c.404 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12663526 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0337 | 1 | 346 | 0.0029 | 15 | c.-26 others(26): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 2363 | chr17 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12693625 | G | GAATAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0062a0001c0001t0126others(2): Show | a0001c0001t0001g0176 a0001c0001t0062g0316 a0001c0001t0126g0341 others(2): Show |
5 | 346 | 0.0145 | 15 | c.56- others(32): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18964.hp1 NA18987.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0002a0001c0001t0011a0001c0001t0027others(4): Show | a0001c0001t0002g0244 a0001c0001t0011g0235 a0001c0001t0027g0245 others(4): Show |
7 | 346 | 0.0202 | 15 | c.56- others(30): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12700399 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0322 | 1 | 346 | 0.0029 | 15 | c.56- others(30): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12719174 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0194 | 1 | 346 | 0.0029 | 15 | c.253 others(32): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOCOS_chr1_171617243_171631888 | 171624435 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02165.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0033 |
5 | 412 | 0.0121 | 15 | c.95+ others(28): Show |
MYOCOS | ENSG00000283683.2 | transcript | ENST00000637642.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93354702 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG06807.hp1 |
a0001a0027 | a0001c0002a0027c0060 | a0001c0002t0001a0027c0060t0001 | a0001c0002t0001g0007 a0027c0060t0001g0081 |
2 | 240 | 0.0083 | 15 | c.340 others(32): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0173 | 1 | 240 | 0.0042 | 15 | c.258 others(32): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93370314 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
a0001a0019 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0003t0002a0001c0004t0003others(1): Show | a0001c0001t0005g0013 a0001c0003t0002g0207 a0001c0004t0003g0230 others(4): Show |
7 | 240 | 0.0292 | 15 | c.245 others(32): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 24/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93394448 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0003t0001a0002c0011t0001 | a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0152 others(2): Show |
5 | 240 | 0.0208 | 15 | c.141 others(34): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 16/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93461093 | T | TAAGAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0037 |
2 | 240 | 0.0083 | 15 | c.89- others(30): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0042 | 1 | 240 | 0.0042 | 15 | c.88+ others(30): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482849 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01256.hp2 |
a0009a0012 | a0009c0019a0012c0022 | a0009c0019t0001a0012c0022t0001 | a0009c0019t0001g0058 a0012c0022t0001g0053 |
2 | 240 | 0.0083 | 15 | c.-65 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 516 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTTATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0184 | a0004c0184t0001 | a0004c0184t0001g0032 | 1 | 330 | 0.0030 | 15 | c.*27 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072350 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01167.hp2 others(3): Show |
a0002a0007a0010others(3): Show | a0002c0114a0007c0151a0010c0162others(3): Show | a0002c0114t0003a0007c0151t0001a0010c0162t0003others(3): Show | a0002c0114t0003g0218 a0007c0151t0001g0079 a0010c0162t0003g0171 others(3): Show |
6 | 330 | 0.0182 | 15 | c.470 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072370 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01934.hp2 others(30): Show |
a0001a0002a0003others(11): Show | a0001c0080a0002c0047a0002c0108others(24): Show | a0001c0080t0003a0002c0047t0003a0002c0108t0001others(26): Show | a0001c0080t0003g0232 a0002c0047t0003g0248 a0002c0108t0001g0033 others(30): Show |
33 | 330 | 0.1000 | 15 | c.470 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127305 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0044 | a0044c0077 | a0044c0077t0003 | a0044c0077t0003g0237 | 1 | 330 | 0.0030 | 15 | c.279 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127305 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0038 | a0038c0089 | a0038c0089t0002 | a0038c0089t0002g0109 | 1 | 330 | 0.0030 | 15 | c.279 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127305 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03834.hp2 HG04184.hp1 others(1): Show |
a0003a0009 | a0003c0007a0003c0078a0009c0010 | a0003c0007t0006a0003c0078t0002a0009c0010t0002others(1): Show | a0003c0007t0006g0246 a0003c0078t0002g0141 a0009c0010t0002g0047 others(1): Show |
4 | 330 | 0.0121 | 15 | c.279 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127305 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0009 | a0009c0010 | a0009c0010t0010 | a0009c0010t0010g0046 | 1 | 330 | 0.0030 | 15 | c.279 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127306 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0003 | a0003c0032 | a0003c0032t0003 | a0003c0032t0003g0231 | 1 | 330 | 0.0030 | 15 | c.279 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3177445 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 330 | 0.0030 | 15 | c.930 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01993.hp2 others(9): Show |
a0001a0003a0012others(6): Show | a0001c0002a0001c0009a0003c0004others(7): Show | a0001c0002t0001a0001c0009t0001a0003c0004t0001others(7): Show | a0001c0002t0001g0220 a0001c0009t0001g0204 a0003c0004t0001g0325 others(9): Show |
12 | 403 | 0.0298 | 15 | c.345 others(34): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24068200 | G | GGGCGAGG others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG02055.hp2 others(9): Show |
a0001a0005a0008others(4): Show | a0001c0071a0005c0013a0008c0082others(4): Show | a0001c0071t0001a0005c0013t0005a0008c0082t0001others(4): Show | a0001c0071t0001g0344 a0005c0013t0005g0001 a0005c0013t0005g0023 others(8): Show |
12 | 364 | 0.0330 | 15 | c.329 others(29): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 26/36 | chr1 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24075076 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02717.hp1 |
a0011a0021a0065 | a0011c0042a0021c0028a0065c0090 | a0011c0042t0001a0021c0028t0001a0065c0090t0001 | a0011c0042t0001g0155 a0021c0028t0001g0059 a0065c0090t0001g0010 |
3 | 364 | 0.0082 | 15 | c.285 others(32): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 22/36 | chr1 | TogoVar | |||||||
MYOT_chr5_137862860_137892851 | 137863804 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 352 | 0.0028 | 15 | c.-43 others(26): Show |
MYOT | ENSG00000120729.10 | transcript | ENST00000239926.9 | protein_coding | 4055 | chr5 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134260 | A | AGATAGAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02486.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 |
3 | 394 | 0.0076 | 15 | c.-17 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1571 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134268 | A | AGATAGAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01074.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0186 others(15): Show |
26 | 394 | 0.0660 | 15 | c.-17 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1563 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134272 | A | AGATAGAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 394 | 0.0025 | 15 | c.-17 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1559 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134280 | A | AGATAGAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0299 | 1 | 394 | 0.0025 | 15 | c.-17 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1551 | chr4 | TogoVar | |||||||
MYOZ3_chr5_150656251_150684368 | 150683500 | A | AAAAAGAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG02809.hp2 HG03017.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0007 a0001c0003t0004g0030 a0001c0003t0004g0047 others(7): Show |
15 | 394 | 0.0381 | 15 | c.*66 others(26): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4133 | chr5 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69877024 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02074.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0209 a0001c0001t0003g0180 a0001c0003t0001g0201 others(1): Show |
4 | 322 | 0.0124 | 15 | c.138 others(32): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39984193 | G | GTTTATTT others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02683.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0167 others(9): Show |
12 | 170 | 0.0706 | 15 | c.111 others(34): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |