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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO10_chr5_16656907_16941288 | 16796469 | A | AAAGAAAG | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01099.hp1 others(9): Show |
a0002a0004a0009others(2): Show | a0002c0002a0004c0004a0009c0010others(2): Show | a0002c0002t0059a0004c0004t0001a0004c0004t0004others(8): Show | a0002c0002t0059g0220 a0004c0004t0001g0166 a0004c0004t0001g0168 others(9): Show |
12 | 272 | 0.0441 | 7 | c.280 others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16823468 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01071.hp2 others(35): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0025others(16): Show | a0001c0001t0001a0001c0001t0135a0001c0003t0001others(32): Show | a0001c0001t0001g0180 a0001c0001t0135g0251 a0001c0003t0001g0122 others(35): Show |
38 | 272 | 0.1397 | 7 | c.121 others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16900744 | G | GTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0015a0001c0022others(8): Show | a0001c0001t0114a0001c0001t0161a0001c0015t0060others(10): Show | a0001c0001t0114g0038 a0001c0001t0161g0269 a0001c0015t0060g0032 others(11): Show |
14 | 272 | 0.0515 | 7 | c.22- others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108893250 | C | CCATAACA | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 |
a0002a0021 | a0002c0001a0021c0035 | a0002c0001t0003a0021c0035t0001 | a0002c0001t0003g0046 a0021c0035t0001g0146 |
2 | 152 | 0.0132 | 7 | c.166 others(26): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109049719 | A | ATAATTAT | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG03486.hp1 others(1): Show |
a0001a0015a0018 | a0001c0002a0001c0045a0015c0057others(1): Show | a0001c0002t0001a0001c0045t0007a0015c0057t0001others(1): Show | a0001c0002t0001g0007 a0001c0045t0007g0051 a0015c0057t0001g0023 others(1): Show |
4 | 152 | 0.0263 | 7 | c.287 others(26): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109154911 | G | GAAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG02647.hp1 NA19074.hp1 others(2): Show |
a0001a0003a0030 | a0001c0002a0003c0004a0003c0042others(1): Show | a0001c0002t0002a0003c0004t0001a0003c0004t0002others(2): Show | a0001c0002t0002g0090 a0003c0004t0001g0107 a0003c0004t0002g0098 others(2): Show |
5 | 152 | 0.0329 | 7 | c.516 others(26): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109201491 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 HG02257.hp2 others(4): Show |
a0001a0002a0010others(1): Show | a0001c0002a0001c0016a0002c0001others(4): Show | a0001c0002t0001a0001c0016t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0142 a0001c0016t0001g0061 a0002c0001t0001g0112 others(4): Show |
7 | 152 | 0.0461 | 7 | c.541 others(26): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25760434 | A | AAAAAAAC | intron_variant | MODIFIER | HG01109.hp1 HG02004.hp2 HG02056.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0002a0003c0004a0005c0010others(3): Show | a0002c0002t0001a0003c0004t0001a0005c0010t0001others(3): Show | a0002c0002t0001g0144 a0002c0002t0001g0146 a0003c0004t0001g0143 others(4): Show |
7 | 228 | 0.0307 | 7 | c.-10 others(24): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1/43 | chr22 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25997304 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG02622.hp1 HG03453.hp1 |
a0003a0004a0019 | a0003c0133a0004c0079a0019c0063 | a0003c0133t0001a0004c0079t0002a0019c0063t0002 | a0003c0133t0001g0130 a0004c0079t0002g0103 a0019c0063t0002g0221 |
3 | 228 | 0.0132 | 7 | c.628 others(26): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | chr22 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36499660 | G | GTTTCTTT | intron_variant | MODIFIER | HG00733.hp1 HG02145.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0009 | a0001c0005t0001g0033 a0001c0005t0001g0038 a0001c0005t0001g0039 others(1): Show |
4 | 373 | 0.0107 | 7 | c.237 others(24): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36499664 | C | CTTTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG02257.hp2 HG02273.hp1 others(7): Show |
a0001a0003a0016 | a0001c0001a0003c0003a0016c0027 | a0001c0001t0003a0003c0003t0001a0003c0003t0008others(1): Show | a0001c0001t0003g0254 a0003c0003t0001g0077 a0003c0003t0001g0078 others(7): Show |
10 | 373 | 0.0268 | 7 | c.237 others(24): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
MYO1B_chr2_191240404_191430386 | 191300639 | C | CTTTTTTT | intron_variant | MODIFIER | HG02040.hp1 HG02523.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0031 a0001c0002t0002g0039 a0001c0002t0002g0044 others(2): Show |
5 | 170 | 0.0294 | 7 | c.251 others(24): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191313192 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0006t0005others(1): Show | a0001c0001t0002g0032 a0001c0001t0003g0095 a0001c0001t0003g0117 others(2): Show |
5 | 170 | 0.0294 | 7 | c.252 others(26): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32673090 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01978.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0005 a0001c0001t0004g0177 a0001c0001t0004g0237 others(5): Show |
8 | 244 | 0.0328 | 7 | c.212 others(28): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59136750 | G | GCCCAGCC | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0025a0001c0004t0051 | a0001c0001t0009g0036 a0001c0001t0009g0135 a0001c0001t0009g0167 others(4): Show |
7 | 226 | 0.0310 | 7 | c.*62 others(16): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 28/28 | 629 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59147596 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(79): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0058 a0001c0001t0002g0184 a0001c0001t0003g0043 others(79): Show |
82 | 226 | 0.3628 | 7 | c.308 others(26): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 26/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59213136 | T | TTTATTTA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0044 | a0001c0003t0002g0042 a0001c0003t0002g0160 a0001c0003t0002g0182 others(1): Show |
4 | 226 | 0.0177 | 7 | c.127 others(26): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59216681 | T | TGTATGTG | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 a0001c0002t0001g0150 |
2 | 226 | 0.0089 | 7 | c.110 others(26): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59217519 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(60): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(60): Show |
63 | 226 | 0.2788 | 7 | c.110 others(24): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59268720 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0017others(2): Show | a0001c0002t0001g0071 a0001c0002t0002g0086 a0001c0002t0017g0006 others(2): Show |
5 | 226 | 0.0221 | 7 | c.147 others(24): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282960 | G | GAGGGGAA | intron_variant | MODIFIER | HG00099.hp1 HG02451.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0013 | a0001c0003t0012g0159 a0001c0003t0013g0210 a0001c0003t0013g0211 |
3 | 226 | 0.0133 | 7 | c.4-1 others(22): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59353369 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0009g0167 others(7): Show |
10 | 226 | 0.0443 | 7 | c.3+1 others(22): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8568422 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0024 others(86): Show |
89 | 342 | 0.2602 | 7 | c.3+8 others(20): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427555 | T | TACCGAAG | frameshift_variant | HIGH | NA18974.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0174 | 1 | 312 | 0.0032 | 7 | c.191 others(16): Show |
p.Lys others(5): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/32 | 1987/4375 | 1926/3117 | 642/1038 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
MYO3A_chr10_25929229_26217532 | 25937386 | G | GTTAATTA | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG03195.hp1 |
a0003a0028 | a0003c0022a0028c0040 | a0003c0022t0005a0028c0040t0013 | a0003c0022t0005g0277 a0003c0022t0005g0278 a0028c0040t0013g0267 |
3 | 280 | 0.0107 | 7 | c.-18 others(24): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26077233 | G | GTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG02280.hp1 others(2): Show |
a0002a0004 | a0002c0038a0004c0005a0004c0008 | a0002c0038t0017a0004c0005t0002a0004c0005t0006others(1): Show | a0002c0038t0017g0185 a0004c0005t0002g0172 a0004c0005t0002g0173 others(2): Show |
5 | 280 | 0.0179 | 7 | c.135 others(26): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26179089 | A | ATTTTTTT | intron_variant | MODIFIER | HG01952.hp2 HG02027.hp1 HG02055.hp1 others(5): Show |
a0002a0003a0010others(3): Show | a0002c0001a0003c0003a0010c0010others(3): Show | a0002c0001t0002a0003c0003t0002a0003c0003t0003others(4): Show | a0002c0001t0002g0117 a0002c0001t0002g0154 a0003c0003t0002g0038 others(5): Show |
8 | 280 | 0.0286 | 7 | c.443 others(26): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170230336 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01069.hp1 others(11): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0002others(10): Show | a0001c0001t0001g0041 a0001c0002t0001g0142 a0001c0007t0002g0050 others(11): Show |
14 | 174 | 0.0805 | 7 | c.604 others(24): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170357377 | G | GTATTATA | intron_variant | MODIFIER | HG00323.hp1 HG02135.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0005a0001c0002t0001a0001c0005t0001others(6): Show | a0001c0001t0005g0042 a0001c0002t0001g0152 a0001c0005t0001g0094 others(6): Show |
9 | 174 | 0.0517 | 7 | c.816 others(26): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170372118 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 HG03130.hp1 others(2): Show |
a0001a0006a0020 | a0001c0001a0001c0005a0001c0027others(2): Show | a0001c0001t0006a0001c0005t0004a0001c0027t0004others(2): Show | a0001c0001t0006g0134 a0001c0005t0004g0112 a0001c0027t0004g0116 others(2): Show |
5 | 174 | 0.0287 | 7 | c.971 others(24): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170399242 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 HG02083.hp2 others(5): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0001c0037others(5): Show | a0001c0001t0001a0001c0005t0002a0001c0037t0001others(5): Show | a0001c0001t0001g0030 a0001c0005t0002g0092 a0001c0037t0001g0144 others(5): Show |
8 | 174 | 0.0460 | 7 | c.179 others(24): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170494405 | C | CAGCAGGA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(18): Show |
a0002a0006a0008others(10): Show | a0002c0006a0006c0021a0006c0036others(15): Show | a0002c0006t0013a0006c0021t0001a0006c0021t0025others(18): Show | a0002c0006t0013g0006 a0006c0021t0001g0148 a0006c0021t0025g0082 others(18): Show |
21 | 174 | 0.1207 | 7 | c.301 others(26): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52458763 | T | TAAAAACA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(86): Show | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 others(268): Show |
272 | 302 | 0.9007 | 7 | c.28- others(24): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49830171 | A | ACACACAC | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 |
a0001a0008 | a0001c0001a0008c0024 | a0001c0001t0001a0008c0024t0001 | a0001c0001t0001g0113 a0008c0024t0001g0170 |
2 | 238 | 0.0084 | 7 | c.539 others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 39/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49882626 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0020others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0021 others(82): Show |
85 | 238 | 0.3571 | 7 | c.304 others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 22/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49957142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG02056.hp2 others(3): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0002c0051others(1): Show | a0001c0001t0007a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0007g0063 a0002c0003t0001g0161 a0002c0003t0002g0107 others(3): Show |
6 | 238 | 0.0252 | 7 | c.154 others(26): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 12/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50077168 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(16): Show | a0001c0001t0001g0021 a0001c0001t0001g0101 a0001c0001t0001g0103 others(30): Show |
33 | 238 | 0.1387 | 7 | c.28- others(24): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50105249 | A | AAATAAAT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(13): Show | a0001c0001t0001g0188 a0001c0001t0002g0019 a0001c0001t0025g0190 others(20): Show |
23 | 238 | 0.0966 | 7 | c.28- others(24): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122650 | A | AAGGGGGG | intron_variant | MODIFIER | HG00621.hp1 HG02135.hp2 |
a0004 | a0004c0006a0004c0022 | a0004c0006t0004a0004c0022t0004 | a0004c0006t0004g0043 a0004c0022t0004g0022 |
2 | 238 | 0.0084 | 7 | c.28- others(24): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52195962 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01106.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0005t0002others(3): Show | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0277 others(12): Show |
15 | 360 | 0.0417 | 7 | c.499 others(24): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 39/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75805019 | A | ATTTTTTT | intron_variant | MODIFIER | HG01975.hp2 HG02074.hp1 HG02083.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028a0001c0001t0044others(2): Show | a0001c0001t0009g0333 a0001c0001t0009g0339 a0001c0001t0028g0328 others(3): Show |
6 | 358 | 0.0168 | 7 | c.-47 others(26): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75905035 | C | CTTAGGGG | intron_variant | MODIFIER | HG00408.hp2 HG02083.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028a0001c0001t0043 | a0001c0001t0009g0330 a0001c0001t0009g0339 a0001c0001t0028g0332 others(1): Show |
4 | 358 | 0.0112 | 7 | c.317 others(26): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127617487 | G | GTTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01346.hp2 others(8): Show |
a0001a0002a0009others(1): Show | a0001c0005a0001c0059a0002c0011others(2): Show | a0001c0005t0002a0001c0059t0002a0002c0011t0002others(2): Show | a0001c0005t0002g0041 a0001c0005t0002g0047 a0001c0005t0002g0090 others(8): Show |
11 | 282 | 0.0390 | 7 | c.339 others(26): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | ATATATAT | intron_variant | MODIFIER | HG02135.hp1 NA18943.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0041 | a0001c0002t0002g0032 a0001c0002t0002g0052 a0001c0002t0002g0065 others(2): Show |
5 | 308 | 0.0162 | 7 | c.218 others(26): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | ATATATAT | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02970.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0002a0006c0007t0040a0006c0007t0046 | a0001c0002t0002g0041 a0001c0002t0002g0048 a0006c0007t0040g0088 others(1): Show |
4 | 308 | 0.0130 | 7 | c.218 others(26): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72003326 | A | AAAAAACT | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02970.hp2 others(4): Show |
a0007a0023 | a0007c0009a0007c0018a0023c0016 | a0007c0009t0018a0007c0009t0024a0007c0009t0050others(3): Show | a0007c0009t0018g0265 a0007c0009t0024g0269 a0007c0009t0024g0270 others(4): Show |
7 | 308 | 0.0227 | 7 | c.138 others(26): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 8/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72047774 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01346.hp2 others(16): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0002a0006c0007others(2): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0001t0005g0110 a0001c0002t0002g0022 a0001c0002t0002g0025 others(16): Show |
19 | 308 | 0.0617 | 7 | c.-71 others(24): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72094366 | A | ATTTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG01934.hp1 HG01952.hp2 others(6): Show |
a0005a0018 | a0005c0005a0018c0017 | a0005c0005t0008a0005c0005t0060a0018c0017t0061 | a0005c0005t0008g0300 a0005c0005t0008g0302 a0005c0005t0008g0303 others(6): Show |
9 | 308 | 0.0292 | 7 | c.-72 others(26): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17104735 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(131): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0004others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(37): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(131): Show |
134 | 262 | 0.5115 | 7 | c.840 others(24): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12700399 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01891.hp1 HG02055.hp1 others(19): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0025a0001c0001t0040others(17): Show | a0001c0001t0001g0027 a0001c0001t0001g0261 a0001c0001t0025g0297 others(19): Show |
22 | 346 | 0.0636 | 7 | c.56- others(22): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |