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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0246 | 1 | 100 | 0.0100 | 34 | c.578 others(53): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10376233 | A | ATTAGCTA others(27): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 NA18944.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0014a0001c0015others(6): Show | a0001c0004t0001a0001c0014t0001a0001c0015t0001others(6): Show | a0001c0004t0001g0314 a0001c0014t0001g0010 a0001c0015t0001g0011 others(15): Show |
18 | 380 | 0.0474 | 34 | c.-33 others(45): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 3228 | chr17 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108507264 | T | TTCACATA others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 227 | 0.0044 | 34 | c.89- others(49): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 1/40 | chr3 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101617828 | A | ATCTGTGC others(27): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01123.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0181 others(8): Show |
28 | 396 | 0.0707 | 34 | c.455 others(51): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16848704 | T | TGCTCAAC others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0039 | a0001c0039t0154 | a0001c0039t0154g0263 | 1 | 270 | 0.0037 | 34 | c.120 others(53): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108793347 | G | GGAAATAG others(27): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 NA18906.hp1 |
a0001a0005a0014 | a0001c0005a0005c0037a0014c0054 | a0001c0005t0001a0005c0037t0016a0014c0054t0001 | a0001c0005t0001g0069 a0005c0037t0016g0133 a0014c0054t0001g0017 |
3 | 150 | 0.0200 | 34 | c.617 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTAT others(27): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0069 | a0002c0069t0022 | a0002c0069t0022g0074 | 1 | 20 | 0.0500 | 34 | c.236 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0020 | a0020c0062 | a0020c0062t0014 | a0020c0062t0014g0131 | 1 | 20 | 0.0500 | 34 | c.236 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0016 | 1 | 98 | 0.0102 | 34 | c.259 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109022469 | T | TATGTATA others(27): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0040 | 1 | 150 | 0.0067 | 34 | c.279 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023670 | A | AATATATG others(27): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001a0023 | a0001c0005a0023c0063 | a0001c0005t0001a0023c0063t0003 | a0001c0005t0001g0015 a0001c0005t0001g0069 a0001c0005t0001g0098 others(1): Show |
4 | 150 | 0.0267 | 34 | c.279 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CACAGAGA others(27): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0140 | 1 | 42 | 0.0238 | 34 | c.279 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109199196 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0015 | a0015c0056 | a0015c0056t0001 | a0015c0056t0001g0057 | 1 | 147 | 0.0068 | 34 | c.541 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191292718 | C | CTAGGAGG others(27): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0006g0157 |
3 | 168 | 0.0179 | 34 | c.136 others(51): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0055 | a0001c0001t0004g0194 a0001c0002t0055g0223 |
2 | 141 | 0.0142 | 34 | c.110 others(53): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0078 a0001c0002t0003g0119 |
2 | 141 | 0.0142 | 34 | c.110 others(53): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282911 | A | AGGGGGAG others(27): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0012 | a0001c0012t0058 | a0001c0012t0058g0226 | 1 | 140 | 0.0071 | 34 | c.4-1 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 79 | 0.0127 | 34 | c.327 others(49): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18960.hp2 NA19055.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0021a0002c0004t0003 | a0001c0001t0002g0298 a0001c0001t0021g0066 a0002c0004t0003g0037 |
3 | 81 | 0.0370 | 34 | c.327 others(49): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 79 | 0.0127 | 34 | c.327 others(49): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0075 |
2 | 80 | 0.0250 | 34 | c.327 others(49): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03225.hp2 |
a0001 | a0001c0008a0001c0023 | a0001c0008t0005a0001c0023t0005 | a0001c0008t0005g0241 a0001c0023t0005g0118 |
2 | 80 | 0.0250 | 34 | c.327 others(49): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0279 | 1 | 72 | 0.0139 | 34 | c.194 others(51): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0168 | 1 | 72 | 0.0139 | 34 | c.194 others(51): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109443045 | T | TGTATACA others(27): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0248 | 1 | 287 | 0.0035 | 34 | c.268 others(51): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26075696 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0041 | a0009c0041t0005 | a0009c0041t0005g0259 | 1 | 265 | 0.0038 | 34 | c.135 others(53): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170520466 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0025 | a0025c0031 | a0025c0031t0008 | a0025c0031t0008g0160 | 1 | 141 | 0.0071 | 34 | c.357 others(51): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18969.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0007 | a0001c0001t0001g0183 a0003c0005t0007g0073 |
2 | 32 | 0.0625 | 34 | c.220 others(53): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(27): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0010a0002c0011 | a0001c0002t0001a0002c0010t0012a0002c0011t0010 | a0001c0002t0001g0204 a0002c0010t0012g0125 a0002c0010t0012g0140 others(1): Show |
4 | 13 | 0.3077 | 34 | c.105 others(51): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50043382 | A | ATTAAATA others(27): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0003 | 1 | 229 | 0.0044 | 34 | c.139 others(51): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71860969 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0098 | 1 | 73 | 0.0137 | 34 | c.609 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 33/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 153 | 0.0065 | 34 | c.268 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 |
a0007 | a0007c0009 | a0007c0009t0015a0007c0009t0022 | a0007c0009t0015g0266 a0007c0009t0022g0267 |
2 | 154 | 0.0130 | 34 | c.268 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 104 | 0.0096 | 34 | c.256 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAATATA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0018 | a0007c0018t0015 | a0007c0018t0015g0265 | 1 | 67 | 0.0149 | 34 | c.218 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71975390 | C | CGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19080.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0006a0001c0011t0006 | a0001c0002t0006g0009 a0001c0011t0006g0012 |
2 | 17 | 0.1176 | 34 | c.184 others(53): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 12/41 | chr15 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93354666 | A | ACTCTCTC others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | 103 | 0.0194 | 34 | c.340 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03209.hp1 HG03486.hp1 others(10): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(5): Show | a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0146 others(10): Show |
13 | 46 | 0.2826 | 34 | c.200 others(53): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02132.hp1 HG02630.hp2 |
a0001a0005 | a0001c0001a0001c0015a0005c0030 | a0001c0001t0002a0001c0015t0001a0005c0030t0002 | a0001c0001t0002g0173 a0001c0015t0001g0109 a0005c0030t0002g0170 |
3 | 36 | 0.0833 | 34 | c.200 others(53): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0051 | 1 | 34 | 0.0294 | 34 | c.200 others(53): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(12): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0154 others(12): Show |
15 | 28 | 0.5357 | 34 | c.730 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG02602.hp2 |
a0001a0002 | a0001c0003a0001c0012a0002c0011 | a0001c0003t0002a0001c0012t0001a0002c0011t0001 | a0001c0003t0002g0209 a0001c0012t0001g0075 a0002c0011t0001g0156 |
3 | 16 | 0.1875 | 34 | c.730 others(51): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAGAAAGA others(27): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 75 | 0.0133 | 34 | c.88+ others(49): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0009 | a0009c0173 | a0009c0173t0001 | a0009c0173t0001g0124 | 1 | 176 | 0.0057 | 34 | c.*27 others(45): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3147125 | T | TATATTAT others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp1 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0181a0002c0003a0002c0114others(12): Show | a0001c0181t0002a0002c0003t0002a0002c0114t0003others(13): Show | a0001c0181t0002g0019 a0002c0003t0002g0087 a0002c0003t0002g0088 others(14): Show |
17 | 326 | 0.0521 | 34 | c.190 others(53): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 13/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3147137 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0011 | a0011c0148 | a0011c0148t0007 | a0011c0148t0007g0154 | 1 | 327 | 0.0031 | 34 | c.190 others(53): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 13/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3193351 | T | TGTATATG others(27): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0080 | a0001c0080t0003 | a0001c0080t0003g0232 | 1 | 328 | 0.0030 | 34 | c.431 others(49): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 3/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0095others(11): Show | a0001c0002t0002a0001c0003t0001a0001c0095t0001others(11): Show | a0001c0002t0002g0001 a0001c0002t0002g0021 a0001c0002t0002g0202 others(16): Show |
20 | 342 | 0.0585 | 34 | c.345 others(53): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03471.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0044 a0002c0006t0001g0078 |
2 | 324 | 0.0062 | 34 | c.345 others(53): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24067354 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01346.hp2 others(20): Show |
a0002a0003a0028others(3): Show | a0002c0001a0002c0050a0003c0003others(5): Show | a0002c0001t0001a0002c0050t0001a0003c0003t0001others(5): Show | a0002c0001t0001g0006 a0002c0001t0001g0102 a0002c0001t0001g0116 others(20): Show |
23 | 292 | 0.0788 | 34 | c.335 others(51): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar |