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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MXRA8_chr1_1347691_1363555 | 1350086 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0018a0001c0001t0007g0008 | 2 | 338 | 0.0059 | 40 | c.*35 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2604 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350126 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 338 | 0.0030 | 40 | c.*34 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2564 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350254 | C | CGGGGGGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 2 | 338 | 0.0059 | 40 | c.*33 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2436 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350401 | C | CGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 338 | 0.0030 | 40 | c.*32 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2289 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350441 | C | CGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 338 | 0.0030 | 40 | c.*31 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2249 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350614 | C | CGGGGGGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 338 | 0.0059 | 40 | c.*29 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2076 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350654 | C | CGGGGGGA others(33): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 40 | c.*29 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2036 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350657 | G | GGGGAGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 NA18966.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0009a0001c0001t0008g0026 | 3 | 338 | 0.0089 | 40 | c.*29 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2033 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350694 | C | CGGGGGGA others(33): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG03490.hp2 HG03492.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0047 | 7 | 338 | 0.0207 | 40 | c.*29 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1996 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350774 | C | CGGGGGGA others(33): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 40 | c.*28 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1916 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350846 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 338 | 0.0030 | 40 | c.*27 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1844 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350886 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0025 | 1 | 338 | 0.0030 | 40 | c.*27 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1804 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350966 | A | AGGAGCGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 40 | c.*26 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1724 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351017 | G | GGGGAGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0012 | a0002c0003t0004g0005a0002c0003t0012g0025 | 2 | 338 | 0.0059 | 40 | c.*25 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1673 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351057 | G | GGGGAGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 338 | 0.0030 | 40 | c.*25 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1633 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351201 | G | GGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 NA19070.hp2 NA19089.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0004a0007c0009t0008 | a0001c0001t0004g0009a0007c0009t0008g0048 | 3 | 338 | 0.0089 | 40 | c.*24 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1489 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351281 | C | CGGGCAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0052 | 1 | 338 | 0.0030 | 40 | c.*23 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1409 | chr1 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591770 | C | CTCTTCTT others(33): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0028 | 1 | 360 | 0.0028 | 40 | c.-33 others(51): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3200 | chr12 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01074.hp1 others(16): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0029 | a0001c0001t0001a0001c0002t0001a0012c0029t0001 | a0001c0001t0001g0130a0001c0001t0001g0166a0001c0001t0001g0207others(15): Show | 19 | 374 | 0.0508 | 40 | c.655 others(55): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0283 | 2 | 334 | 0.0060 | 40 | c.378 others(57): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYL10_chr7_101608330_101634296 | 101609713 | C | CTGCCTCC others(33): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 398 | 0.0025 | 40 | c.*37 others(51): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3616 | chr7 | TogoVar | ||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(33): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 NA19004.hp2 NA19066.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 430 | 0.0116 | 40 | c.*39 others(51): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 681595 | C | CCGCCGCC others(33): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02451.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0031a0001c0001t0001g0064a0001c0001t0001g0142others(2): Show | 6 | 412 | 0.0146 | 40 | c.421 others(55): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYO10_chr5_16656907_16941288 | 16936304 | C | CGCCCCGC others(33): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02895.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0022a0002c0002others(4): Show | a0001c0001t0081a0001c0001t0161a0001c0022t0157others(6): Show | a0001c0001t0081g0246a0001c0001t0161g0269a0001c0022t0157g0265others(7): Show | 10 | 272 | 0.0368 | 40 | c.-49 others(49): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 17 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108860201 | T | TTCCTTCT others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG01952.hp1 others(9): Show |
a0002a0003a0005others(3): Show | a0002c0001a0002c0069a0003c0004others(5): Show | a0002c0001t0001a0002c0001t0003a0002c0069t0022others(7): Show | a0002c0001t0001g0060a0002c0001t0001g0096a0002c0001t0003g0105others(9): Show | 12 | 152 | 0.0790 | 40 | c.135 others(59): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109010957 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp1 HG03490.hp1 others(1): Show |
a0001a0007a0025 | a0001c0002a0001c0065a0007c0006others(1): Show | a0001c0002t0003a0001c0065t0007a0007c0006t0004others(1): Show | a0001c0002t0003g0028a0001c0065t0007g0071a0007c0006t0004g0138others(1): Show | 4 | 152 | 0.0263 | 40 | c.259 others(59): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(33): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0008 | a0002c0008t0033 | a0002c0008t0033g0209 | 1 | 306 | 0.0033 | 40 | c.203 others(57): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25945904 | C | CTCCCCTC others(33): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0065 | a0065c0081 | a0065c0081t0002 | a0065c0081t0002g0016 | 1 | 228 | 0.0044 | 40 | c.551 others(57): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948527 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19043.hp1 |
a0005a0070 | a0005c0031a0070c0100 | a0005c0031t0001a0070c0100t0001 | a0005c0031t0001g0142a0070c0100t0001g0001 | 2 | 228 | 0.0088 | 40 | c.574 others(57): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 26033801 | C | CTTCCTTT others(33): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0088 | a0011c0088t0001 | a0011c0088t0001g0220 | 1 | 228 | 0.0044 | 40 | c.*33 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 2757 | chr22 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32552401 | A | AATCCATC others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0036a0001c0001t0009g0044 | 2 | 244 | 0.0082 | 40 | c.286 others(61): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 226 | 0.0044 | 40 | c.110 others(59): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282916 | G | GGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 226 | 0.0044 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149a0001c0002t0001g0150 | 2 | 226 | 0.0089 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282929 | A | AGGGGGAG others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0009a0005c0009t0001 | a0001c0001t0009g0036a0001c0001t0009g0167a0001c0001t0009g0169others(1): Show | 4 | 226 | 0.0177 | 40 | c.4-1 others(55): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 342 | 0.0029 | 40 | c.327 others(55): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8561417 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02145.hp1 NA18957.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0126a0001c0001t0002g0293others(5): Show | 8 | 342 | 0.0234 | 40 | c.4-5 others(53): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0209 | 1 | 312 | 0.0032 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0276 | 1 | 312 | 0.0032 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0110 | 1 | 312 | 0.0032 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(33): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0117 | 1 | 312 | 0.0032 | 40 | c.194 others(57): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0171a0001c0001t0047g0180 | 2 | 302 | 0.0066 | 40 | c.220 others(59): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12693625 | G | GAATAAAA others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0115 | 1 | 346 | 0.0029 | 40 | c.56- others(57): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03225.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0017 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0101a0001c0002t0002g0214a0001c0003t0001g0061others(2): Show | 5 | 240 | 0.0208 | 40 | c.200 others(59): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01981.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0145a0001c0003t0001g0160a0001c0003t0002g0187others(5): Show | 8 | 240 | 0.0333 | 40 | c.730 others(57): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038a0001c0002t0001g0106 | 2 | 240 | 0.0083 | 40 | c.88+ others(55): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3193309 | T | TATATGTA others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0110 | a0004c0110t0001 | a0004c0110t0001g0001 | 1 | 330 | 0.0030 | 40 | c.431 others(55): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 3/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2072257 | G | GATGCTCT others(33): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0012 | 1 | 403 | 0.0025 | 40 | c.794 others(53): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100080 | T | TCTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03239.hp1 HG03490.hp1 others(6): Show |
a0002a0004a0009others(2): Show | a0002c0042a0002c0097a0004c0007others(5): Show | a0002c0042t0002a0002c0097t0006a0004c0007t0001others(5): Show | a0002c0042t0002g0135a0002c0097t0006g0050a0004c0007t0001g0236others(6): Show | 9 | 403 | 0.0223 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100117 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG02132.hp1 others(5): Show |
a0005a0007a0008others(4): Show | a0005c0005a0007c0010a0007c0089others(5): Show | a0005c0005t0001a0007c0010t0001a0007c0089t0001others(5): Show | a0005c0005t0001g0143a0007c0010t0001g0367a0007c0089t0001g0226others(5): Show | 8 | 403 | 0.0199 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |