| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYO1F_chr19_8515778_8582442 | 8553880 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 342 | 0.0029 | -18 | c.327 others(33): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8574559 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 342 | 0.0029 | -18 | c.3+2 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8574577 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0015 | 1 | 342 | 0.0029 | -18 | c.3+2 others(31): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44961985 | GGGGGCTG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01993.hp2 HG03710.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0005a0001c0003t0001g0003 | 3 | 378 | 0.0079 | -18 | c.*73 others(27): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 676 | chr7 | TogoVar | ||||||
| MYO1H_chr12_109342900_109453379 | 109386995 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(23): Show |
a0001 | a0001c0003a0001c0006a0001c0018others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0005others(2): Show | a0001c0003t0001g0254a0001c0003t0001g0259a0001c0003t0001g0260others(23): Show | 26 | 312 | 0.0833 | -18 | c.13- others(33): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109406467 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0305 | 1 | 312 | 0.0032 | -18 | c.964 others(33): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109443186 | GTGTACGT others(11): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0003 | a0003c0002 | a0003c0002t0010 | a0003c0002t0010g0049 | 1 | 312 | 0.0032 | -18 | c.268 others(35): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170234180 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03579.hp1 NA20300.hp1 |
a0001a0002a0014 | a0001c0007a0002c0010a0014c0049 | a0001c0007t0007a0002c0010t0015a0014c0049t0019 | a0001c0007t0007g0133a0002c0010t0015g0136a0014c0049t0019g0003 | 3 | 174 | 0.0172 | -18 | c.604 others(35): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170343030 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp2 HG02523.hp2 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0030a0001c0002t0001g0152a0001c0005t0001g0094others(5): Show | 8 | 174 | 0.0460 | -18 | c.815 others(35): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170453437 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03453.hp1 HG03486.hp1 others(1): Show |
a0009a0026a0027others(1): Show | a0009c0020a0026c0029a0027c0068others(1): Show | a0009c0020t0006a0026c0029t0002a0027c0068t0017others(1): Show | a0009c0020t0006g0080a0026c0029t0002g0071a0027c0068t0017g0115others(1): Show | 4 | 174 | 0.0230 | -18 | c.273 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 23/34 | chr2 | TogoVar | ||||||
| MYO3B_chr2_170173147_170660167 | 170474743 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02615.hp1 HG02976.hp2 others(2): Show |
a0001a0004 | a0001c0007a0001c0014a0004c0013 | a0001c0007t0003a0001c0007t0007a0001c0014t0002others(2): Show | a0001c0007t0003g0124a0001c0007t0007g0133a0001c0014t0002g0014others(2): Show | 5 | 174 | 0.0287 | -18 | c.301 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170478522 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG03579.hp2 |
a0001a0004 | a0001c0002a0001c0004a0004c0022 | a0001c0002t0001a0001c0004t0004a0004c0022t0002 | a0001c0002t0001g0070a0001c0004t0004g0011a0004c0022t0002g0009 | 3 | 174 | 0.0172 | -18 | c.301 others(39): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170551538 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA20129.hp2 |
a0004a0008 | a0004c0013a0008c0076 | a0004c0013t0001a0008c0076t0002 | a0004c0013t0001g0004a0008c0076t0002g0135 | 2 | 174 | 0.0115 | -18 | c.373 others(37): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0042 | a0002c0002t0006g0127a0002c0002t0042g0125 | 2 | 302 | 0.0066 | -18 | c.471 others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | ||||||
| MYO5A_chr15_52302283_52533880 | 52371878 | GTAATAAT others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0006a0003c0005a0003c0011others(4): Show | a0001c0006t0011a0003c0005t0007a0003c0005t0020others(12): Show | a0001c0006t0011g0059a0001c0006t0011g0258a0001c0006t0011g0259others(27): Show | 31 | 302 | 0.1027 | -18 | c.281 others(35): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 21/41 | chr15 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 49927427 | AAAAACAA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp2 others(29): Show |
a0002a0005a0013others(3): Show | a0002c0003a0002c0010a0002c0035others(8): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0020others(12): Show | a0002c0003t0002g0010a0002c0003t0002g0107a0002c0003t0002g0133others(29): Show | 32 | 238 | 0.1345 | -18 | c.209 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 17/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 49949323 | GAAAACTG others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00639.hp1 others(47): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0020others(20): Show | a0001c0001t0006a0001c0001t0026a0001c0001t0032others(29): Show | a0001c0001t0006g0226a0001c0001t0026g0017a0001c0001t0032g0216others(47): Show | 50 | 238 | 0.2101 | -18 | c.175 others(37): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 14/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50122634 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | NA18959.hp2 NA19076.hp1 NA19076.hp2 |
a0002a0003a0004 | a0002c0021a0003c0006a0004c0007 | a0002c0021t0005a0003c0006t0003a0004c0007t0004 | a0002c0021t0005g0082a0003c0006t0003g0065a0004c0007t0004g0013 | 3 | 238 | 0.0126 | -18 | c.28- others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02965.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0006a0001c0002t0011a0003c0012t0003 | a0001c0001t0006g0223a0001c0001t0006g0225a0001c0001t0006g0226others(2): Show | 5 | 238 | 0.0210 | -18 | c.27+ others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50183306 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0100 | 1 | 238 | 0.0042 | -18 | c.27+ others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 50183321 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0110 | 1 | 238 | 0.0042 | -18 | c.27+ others(35): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(130): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(35): Show | a0001c0001t0002g0106a0001c0001t0002g0128a0001c0001t0002g0160others(130): Show | 133 | 360 | 0.3694 | -18 | c.*31 others(29): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52255151 | TACATACA others(11): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 360 | 0.0028 | -18 | c.139 others(37): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
| MYO6_chr6_75744239_75924537 | 75787676 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02615.hp2 HG03098.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0016others(4): Show | a0001c0001t0005g0271a0001c0001t0005g0284a0001c0001t0005g0288others(8): Show | 11 | 358 | 0.0307 | -18 | c.-47 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYO6_chr6_75744239_75924537 | 75787714 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0318 | 1 | 358 | 0.0028 | -18 | c.-47 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYO6_chr6_75744239_75924537 | 75787718 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG04204.hp1 NA19005.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0112a0001c0002t0002 | a0001c0001t0019g0163a0001c0001t0112g0260a0001c0002t0002g0239 | 3 | 358 | 0.0084 | -18 | c.-47 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYO6_chr6_75744239_75924537 | 75787720 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0173 | 1 | 358 | 0.0028 | -18 | c.-47 others(37): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYO7B_chr2_127530683_127642726 | 127619226 | GTGGTTGG others(11): Show |
G | intron_variant | MODIFIER | HG03195.hp2 HG06807.hp2 |
a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0083a0007c0024t0001g0261 | 2 | 282 | 0.0071 | -18 | c.339 others(37): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO7B_chr2_127530683_127642726 | 127619365 | AGCTGAGT others(11): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03041.hp1 HG03225.hp2 others(1): Show |
a0010a0023 | a0010c0016a0023c0048 | a0010c0016t0001a0023c0048t0001 | a0010c0016t0001g0005a0010c0016t0001g0138a0023c0048t0001g0129 | 4 | 282 | 0.0142 | -18 | c.339 others(35): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO9A_chr15_71817291_72123150 | 71850765 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0015 | a0015c0017 | a0015c0017t0061 | a0015c0017t0061g0308 | 1 | 308 | 0.0033 | -18 | c.658 others(35): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 37/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71867798 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01192.hp2 HG02083.hp1 others(8): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0002t0042a0001c0011t0007others(1): Show | a0001c0002t0007g0003a0001c0002t0007g0007a0001c0002t0007g0008others(8): Show | 11 | 308 | 0.0357 | -18 | c.598 others(37): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 32/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71925307 | GTATATAC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(113): Show |
a0001a0005a0009others(7): Show | a0001c0001a0001c0002a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(22): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0114others(113): Show | 116 | 308 | 0.3766 | -18 | c.256 others(37): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71928044 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0008 | a0008c0009 | a0008c0009t0051 | a0008c0009t0051g0263 | 1 | 308 | 0.0033 | -18 | c.256 others(37): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO9B_chr19_17070777_17218286 | 17086913 | GTCTGTCC others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0004t0001g0193 | 3 | 262 | 0.0115 | -18 | c.-59 others(37): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | chr19 | TogoVar | ||||||
| MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0002others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(9): Show | 12 | 262 | 0.0458 | -18 | c.-58 others(37): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYOF_chr10_93301429_93487334 | 93303545 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01928.hp1 others(4): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0004c0006t0002others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0152a0001c0003t0001g0115others(4): Show | 7 | 240 | 0.0292 | -18 | c.*34 others(29): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 2883 | chr10 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93336865 | AAAGAAAG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(95): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(28): Show | a0001c0001t0001g0019a0001c0001t0001g0047a0001c0001t0001g0056others(95): Show | 98 | 240 | 0.4083 | -18 | c.443 others(35): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 40/53 | chr10 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93401814 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(13): Show |
a0001a0004a0005others(2): Show | a0001c0004a0001c0009a0004c0038others(3): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(6): Show | a0001c0004t0001g0009a0001c0004t0001g0026a0001c0004t0001g0040others(13): Show | 16 | 240 | 0.0667 | -18 | c.991 others(33): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 11/53 | chr10 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93428566 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0023 | a0003c0023t0004 | a0003c0023t0004g0044 | 1 | 240 | 0.0042 | -18 | c.346 others(35): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 4/53 | chr10 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93441997 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0008 | 1 | 240 | 0.0042 | -18 | c.236 others(37): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 3/53 | chr10 | TogoVar | ||||||
| MYOM1_chr18_3061807_3224968 | 3113210 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA18961.hp2 |
a0005a0010 | a0005c0008a0010c0174 | a0005c0008t0011a0010c0174t0001 | a0005c0008t0011g0271a0010c0174t0001g0117 | 2 | 330 | 0.0061 | -18 | c.330 others(35): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 21/37 | chr18 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2041511 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0027 | 1 | 403 | 0.0025 | -18 | c.-36 others(29): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3534 | chr8 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2057998 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG02135.hp1 HG02148.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0091a0001c0117others(11): Show | a0001c0002t0001a0001c0002t0003a0001c0091t0001others(14): Show | a0001c0002t0001g0282a0001c0002t0003g0308a0001c0091t0001g0328others(17): Show | 20 | 403 | 0.0496 | -18 | c.560 others(33): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM3_chr1_24051041_24117135 | 24113266 | TTCTTTCT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG03130.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0005a0004c0004a0006c0006others(1): Show | a0001c0005t0002a0004c0004t0001a0006c0006t0001others(1): Show | a0001c0005t0002g0198a0004c0004t0001g0192a0006c0006t0001g0053others(1): Show | 4 | 364 | 0.0110 | -18 | c.-12 others(29): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1132 | chr1 | TogoVar | ||||||
| MYOZ3_chr5_150656251_150684368 | 150656742 | ACCGCCCC others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 394 | 0.0025 | -18 | c.-46 others(29): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4508 | chr5 | TogoVar | ||||||
| MYRFL_chr12_69820227_69964097 | 69854346 | GGAGGGAG others(11): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0300 | 1 | 322 | 0.0031 | -18 | c.47- others(31): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYRFL_chr12_69820227_69964097 | 69864652 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 NA18612.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0002a0004c0007t0002 | a0001c0001t0001g0297a0001c0001t0001g0298a0002c0002t0002g0299others(1): Show | 4 | 322 | 0.0124 | -18 | c.137 others(35): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 39870343 | GTTCCAAT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0031others(91): Show | 94 | 170 | 0.5529 | -18 | c.-30 others(37): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40156209 | ATGGCTAG others(11): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03688.hp2 |
a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0078a0005c0013t0010g0133 | 2 | 170 | 0.0118 | -18 | c.469 others(35): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40212161 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02572.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0131a0001c0002t0002g0144others(1): Show | 4 | 170 | 0.0235 | -18 | c.190 others(37): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | chr3 | TogoVar |