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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTUS1_chr8_17638802_17806094 | 17742269 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0004 | a0004c0027 | a0004c0027t0025 | a0004c0027t0025g0219 | 1 | 303 | 0.0033 | -23 | c.228 others(42): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1039994 | CGGCCAGC others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00738.hp1 others(12): Show |
a0001a0003a0006 | a0001c0034a0003c0002a0003c0156others(4): Show | a0001c0034t0002a0003c0002t0001a0003c0156t0001others(4): Show | a0001c0034t0002g0043 a0003c0002t0001g0002 a0003c0156t0001g0092 others(7): Show |
15 | 404 | 0.0371 | -23 | c.-33 others(34): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 3277 | chr11 | TogoVar | |||||||
MUCL3_chr6_30935973_30959221 | 30952788 | CAAGGAGA others(16): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 440 | 0.0023 | -23 | c.403 others(40): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110226897 | TGAGGGAG others(16): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0136 | 1 | 370 | 0.0027 | -23 | c.275 others(40): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76704626 | AATACAAA others(16): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 414 | 0.0024 | -23 | c.342 others(40): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878633 | AAAAAAAA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 351 | 0.0028 | -23 | c.*41 others(34): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2199 | chr19 | TogoVar | |||||||
MYBL1_chr8_66557175_66618218 | 66602713 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02647.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 |
3 | 234 | 0.0128 | -23 | c.21- others(36): Show |
MYBL1 | ENSG00000185697.17 | transcript | ENST00000522677.8 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101681578 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0233 | 1 | 346 | 0.0029 | -23 | c.343 others(42): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50459581 | TGGTGGGA others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(8): Show |
a0001a0016 | a0001c0001a0016c0039 | a0001c0001t0001a0016c0039t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 others(8): Show |
11 | 394 | 0.0279 | -23 | c.279 others(40): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77043072 | TAAGTCAA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 332 | 0.0030 | -23 | c.*22 others(34): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1584 | chr13 | TogoVar | |||||||
MYCN_chr2_15935550_15952004 | 15951078 | TGTTCTAA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(151): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(21): Show |
154 | 434 | 0.3548 | -23 | c.*49 others(34): Show |
MYCN | ENSG00000134323.13 | transcript | ENST00000281043.4 | protein_coding | 4075 | chr2 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8524449 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0063 | 1 | 3 | 0.3333 | -23 | c.195 others(42): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 17/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15832943 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0183 | 1 | 30 | 0.0333 | -23 | c.345 others(40): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 2/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10323779 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0009 | a0009c0093 | a0009c0093t0001 | a0009c0093t0001g0259 | 1 | 310 | 0.0032 | -23 | c.293 others(40): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384610 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 219 | 0.0046 | -23 | c.-20 others(40): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607485 | AATATATA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(21): Show |
a0001a0003a0004others(12): Show | a0001c0021a0003c0018a0003c0026others(16): Show | a0001c0021t0005a0003c0018t0020a0003c0026t0002others(19): Show | a0001c0021t0005g0016 a0003c0018t0020g0044 a0003c0018t0020g0047 others(21): Show |
24 | 150 | 0.1600 | -23 | c.*65 others(34): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2563 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607493 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02004.hp2 HG04204.hp2 others(5): Show |
a0001a0002a0043others(1): Show | a0001c0001a0001c0024a0001c0073others(3): Show | a0001c0001t0022a0001c0024t0009a0001c0073t0009others(5): Show | a0001c0001t0022g0135 a0001c0024t0009g0020 a0001c0073t0009g0040 others(5): Show |
8 | 148 | 0.0541 | -23 | c.*65 others(34): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2555 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607918 | TATATATA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0002 | 1 | 152 | 0.0066 | -23 | c.*61 others(34): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2130 | chr3 | TogoVar | |||||||
MYMK_chr9_133509586_133529959 | 133519313 | TCCCAGTG others(16): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114 | 1 | 454 | 0.0022 | -23 | c.251 others(38): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770632 | ATATAAAA others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 336 | 0.0030 | -23 | c.-28 others(34): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2763 | chr3 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16747924 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG03579.hp1 |
a0001a0020a0026 | a0001c0001a0020c0048a0026c0060 | a0001c0001t0050a0020c0048t0094a0026c0060t0093 | a0001c0001t0050g0085 a0020c0048t0094g0143 a0026c0060t0093g0256 |
3 | 270 | 0.0111 | -23 | c.192 others(42): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 19/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16841156 | AAAAAGGA others(16): Show |
A | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0008 | a0002c0008t0052 | a0002c0008t0052g0160 | 1 | 270 | 0.0037 | -23 | c.121 others(42): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108735463 | AGTATTCC others(16): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0100 | 1 | 67 | 0.0149 | -23 | c.507 others(40): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109046007 | GCTCGCCC others(16): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0147 | 1 | 149 | 0.0067 | -23 | c.279 others(40): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(24): Show |
a0004a0006a0007others(13): Show | a0004c0073a0004c0079a0004c0085others(21): Show | a0004c0073t0001a0004c0079t0001a0004c0085t0001others(21): Show | a0004c0073t0001g0226 a0004c0079t0001g0095 a0004c0085t0001g0109 others(24): Show |
27 | 28 | 0.9643 | -23 | c.252 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25990704 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01192.hp1 others(21): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0005a0001c0020others(20): Show | a0001c0001t0001a0001c0005t0001a0001c0020t0001others(20): Show | a0001c0001t0001g0219 a0001c0005t0001g0181 a0001c0020t0001g0183 others(21): Show |
24 | 226 | 0.1062 | -23 | c.615 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25999526 | CCCCCTCC others(16): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0173 | 1 | 226 | 0.0044 | -23 | c.628 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518489 | GAAAAAAA others(16): Show |
G | intron_variant | MODIFIER | NA18941.hp2 NA18993.hp2 NA19006.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0072 |
3 | 188 | 0.0160 | -23 | c.415 others(40): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO19_chr17_36490636_36539868 | 36518506 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0016 | a0016c0027 | a0016c0027t0001 | a0016c0027t0001g0057 | 1 | 372 | 0.0027 | -23 | c.415 others(40): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO1B_chr2_191240404_191430386 | 191260759 | TATCTTTA others(16): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02055.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(6): Show | a0001c0001t0002g0158 a0001c0001t0007g0143 a0001c0001t0007g0145 others(20): Show |
24 | 168 | 0.1429 | -23 | c.-10 others(42): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32504423 | AGGATGAC others(16): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG03453.hp1 HG06807.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0007c0008t0018 | a0001c0001t0002g0011 a0001c0001t0002g0016 a0007c0008t0018g0135 |
3 | 242 | 0.0124 | -23 | c.286 others(42): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32580289 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 31 | 0.0323 | -23 | c.286 others(44): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282906 | GGGGGAGG others(16): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 220 | 0.0045 | -23 | c.4-1 others(38): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543857 | GCTGGTGG others(16): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 340 | 0.0029 | -23 | c.152 others(40): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO3A_chr10_25929229_26217532 | 26019244 | TTTATTTA others(16): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01168.hp1 others(5): Show |
a0006a0028 | a0006c0006a0028c0037 | a0006c0006t0001a0028c0037t0001 | a0006c0006t0001g0014 a0006c0006t0001g0015 a0006c0006t0001g0016 others(5): Show |
8 | 278 | 0.0288 | -23 | c.586 others(40): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170512789 | TCATGTAA others(16): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0006 | 1 | 172 | 0.0058 | -23 | c.337 others(42): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170618802 | AACATTTG others(16): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0006 | a0006c0036 | a0006c0036t0012 | a0006c0036t0012g0087 | 1 | 172 | 0.0058 | -23 | c.373 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49894560 | CCAGAAGC others(16): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 NA21309.hp1 |
a0002 | a0002c0003a0002c0010 | a0002c0003t0001a0002c0010t0012 | a0002c0003t0001g0161 a0002c0010t0012g0125 a0002c0010t0012g0140 |
3 | 236 | 0.0127 | -23 | c.304 others(40): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 22/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(59): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(13): Show | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0222 others(59): Show |
62 | 64 | 0.9688 | -23 | c.*31 others(34): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71850765 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0081 | 1 | 17 | 0.0588 | -23 | c.658 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 37/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72080263 | AAATCAAC others(16): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0047a0001c0001t0048 | a0001c0001t0046g0004 a0001c0001t0047g0005 a0001c0001t0048g0006 |
3 | 306 | 0.0098 | -23 | c.-71 others(42): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72116563 | CGAAGCAT others(16): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0009 | a0009c0010 | a0009c0010t0030 | a0009c0010t0030g0226 | 1 | 306 | 0.0033 | -23 | c.-72 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17145933 | GGGATGGA others(16): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03540.hp2 NA20300.hp2 |
a0001a0006a0032 | a0001c0065a0006c0061a0032c0038 | a0001c0065t0001a0006c0061t0001a0032c0038t0010 | a0001c0065t0001g0047 a0006c0061t0001g0046 a0032c0038t0010g0096 |
3 | 260 | 0.0115 | -23 | c.935 others(38): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12716985 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 20 | 0.0500 | -23 | c.178 others(38): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93303545 | CTTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0133 |
2 | 10 | 0.2000 | -23 | c.*33 others(34): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 2883 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482863 | ATATATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(36): Show |
39 | 223 | 0.1749 | -23 | c.-69 others(32): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 530 | chr10 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2054990 | GACGAAGT others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(191): Show |
a0001a0002a0003others(49): Show | a0001c0002a0001c0003a0001c0009others(100): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(114): Show | a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0284 others(190): Show |
194 | 400 | 0.4850 | -23 | c.264 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2054993 | GAAGTACC others(16): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0143 | 1 | 396 | 0.0025 | -23 | c.264 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085544 | CCCACTGT others(16): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 NA18972.hp2 others(2): Show |
a0001a0040a0043others(1): Show | a0001c0003a0040c0052a0043c0154others(1): Show | a0001c0003t0002a0040c0052t0002a0043c0154t0001others(1): Show | a0001c0003t0002g0368 a0040c0052t0002g0063 a0040c0052t0002g0064 others(2): Show |
5 | 340 | 0.0147 | -23 | c.164 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085569 | CCCACTGT others(16): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02895.hp1 others(4): Show |
a0001a0002a0029others(1): Show | a0001c0003a0001c0022a0001c0095others(3): Show | a0001c0003t0001a0001c0022t0001a0001c0095t0001others(3): Show | a0001c0003t0001g0348 a0001c0022t0001g0393 a0001c0095t0001g0031 others(4): Show |
7 | 401 | 0.0175 | -23 | c.164 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |