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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTERF3_chr8_96234402_96266610 | 96250615 | C | CAGAAGAA others(26): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 185 | 0.0054 | 33 | c.677 others(48): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250629 | G | GAAGAAGA others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 287 | 0.0035 | 33 | c.677 others(48): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250639 | A | AAGGAGGA others(26): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 279 | 0.0036 | 33 | c.677 others(48): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250682 | A | AGAAGAAG others(26): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0095 others(7): Show |
19 | 248 | 0.0766 | 33 | c.677 others(48): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTF1_chr1_37804574_37864592 | 37838797 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18951.hp2 NA18965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0248 a0001c0001t0002g0280 a0001c0001t0011g0226 others(3): Show |
6 | 164 | 0.0366 | 33 | c.648 others(46): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655968 | A | ATGTATAT others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 265 | 0.0038 | 33 | c.-81 others(52): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(26): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 170 | 0.0059 | 33 | c.-81 others(52): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150932812 | G | GAAGGAGG others(26): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 174 | 0.0057 | 33 | c.125 others(52): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79840086 | G | GGGGGGTG others(26): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 392 | 0.0026 | 33 | c.*51 others(44): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3460 | chr15 | TogoVar | |||||||
MTMR10_chr15_30933941_30996628 | 30937891 | A | AAAAGTAG others(26): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 276 | 0.0036 | 33 | c.*35 others(44): Show |
MTMR10 | ENSG00000166912.17 | transcript | ENST00000435680.6 | protein_coding | 1049 | chr15 | TogoVar | |||||||
MTMR12_chr5_32222007_32317939 | 32228534 | G | GATATATA others(26): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG02683.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0049 a0001c0001t0010g0058 a0001c0001t0010g0102 others(1): Show |
4 | 355 | 0.0113 | 33 | c.*12 others(44): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 16/16 | 1243 | chr5 | TogoVar | ||||||
MTMR2_chr11_95827880_95929107 | 95873111 | C | CAGGATGA others(26): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 336 | 0.0030 | 33 | c.187 others(50): Show |
MTMR2 | ENSG00000087053.20 | transcript | ENST00000346299.10 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(26): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0129 | 1 | 33 | 0.0303 | 33 | c.*40 others(44): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816740 | C | CTTCTCCT others(26): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03540.hp2 |
a0016a0070 | a0016c0152a0016c0153a0070c0155 | a0016c0152t0004a0016c0153t0005a0070c0155t0004 | a0016c0152t0004g0241 a0016c0153t0005g0242 a0070c0155t0004g0243 |
3 | 238 | 0.0126 | 33 | c.-49 others(44): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4812 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1164829 | T | TGGGCCCC others(26): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02622.hp2 others(8): Show |
a0001a0003a0046 | a0001c0013a0001c0093a0003c0006others(1): Show | a0001c0013t0001a0001c0093t0001a0003c0006t0001others(1): Show | a0001c0013t0001g0019 a0001c0093t0001g0019 a0003c0006t0001g0004 others(3): Show |
11 | 290 | 0.0379 | 33 | c.112 others(50): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1164962 | G | GCCCCTGA others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01099.hp2 others(9): Show |
a0008a0012a0015others(3): Show | a0008c0019a0008c0082a0012c0020others(4): Show | a0008c0019t0002a0008c0082t0002a0012c0020t0002others(4): Show | a0008c0019t0002g0008 a0008c0082t0002g0042 a0012c0020t0002g0009 others(5): Show |
12 | 290 | 0.0414 | 33 | c.113 others(50): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681080 | T | TAATATAT others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0013 a0001c0001t0003g0012 a0001c0001t0009g0009 others(4): Show |
7 | 319 | 0.0219 | 33 | c.80- others(48): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(26): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 260 | 0.0038 | 33 | c.628 others(50): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0211 | 1 | 5 | 0.2000 | 33 | c.274 others(50): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(26): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 116 | 0.0086 | 33 | c.-32 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(26): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0134 | 1 | 116 | 0.0086 | 33 | c.-32 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101674862 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0229 | 1 | 88 | 0.0114 | 33 | c.281 others(50): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 18 | 0.0556 | 33 | c.655 others(48): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 362 | 0.0028 | 33 | c.655 others(48): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286788 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 329 | 0.0030 | 33 | c.594 others(50): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0049 | 1 | 86 | 0.0116 | 33 | c.125 others(50): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152697700 | A | ACACACAC others(26): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0003 | 1 | 440 | 0.0023 | 33 | c.-20 others(42): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 196 | chr6 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8592971 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 261 | 0.0038 | 33 | c.503 others(50): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 NA18959.hp2 |
a0001a0002a0016 | a0001c0024a0002c0001a0016c0036 | a0001c0024t0001a0002c0001t0001a0016c0036t0001 | a0001c0024t0001g0170 a0002c0001t0001g0015 a0016c0036t0001g0236 |
3 | 102 | 0.0294 | 33 | c.578 others(52): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10296996 | A | AAGGGAGG others(26): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0014 | a0014c0059 | a0014c0059t0001 | a0014c0059t0001g0044 | 1 | 380 | 0.0026 | 33 | c.*39 others(44): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 3868 | chr17 | TogoVar | |||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02293.hp2 HG02523.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0130 others(2): Show |
8 | 44 | 0.1818 | 33 | c.516 others(50): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771429 | T | TTATGTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02129.hp2 NA18949.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0008 others(2): Show |
8 | 162 | 0.0494 | 33 | c.-20 others(44): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 1966 | chr3 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16823467 | G | GGGGGGGG others(26): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0126 | 1 | 261 | 0.0038 | 33 | c.121 others(50): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16848682 | G | GGACGGCA others(26): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0058 | a0005c0058t0150 | a0005c0058t0150g0028 | 1 | 270 | 0.0037 | 33 | c.120 others(52): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25841608 | G | GATGCTAA others(26): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0054 | a0054c0101 | a0054c0101t0001 | a0054c0101t0001g0100 | 1 | 226 | 0.0044 | 33 | c.320 others(52): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543678 | G | GTGGTGGT others(26): Show |
intron_variant | MODIFIER | HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0154 a0001c0001t0002g0299 |
2 | 334 | 0.0060 | 33 | c.152 others(50): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543825 | G | GTGCTGGT others(26): Show |
intron_variant | MODIFIER | HG01167.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0231 a0001c0001t0003g0222 |
2 | 319 | 0.0063 | 33 | c.152 others(50): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543942 | G | GTGCTGGT others(26): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 328 | 0.0030 | 33 | c.152 others(50): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543957 | G | GTGGTGGT others(26): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02015.hp2 HG02074.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0286 a0001c0001t0002g0289 a0001c0001t0003g0185 others(3): Show |
6 | 305 | 0.0197 | 33 | c.152 others(50): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18954.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0127 a0002c0001t0001g0183 |
2 | 73 | 0.0274 | 33 | c.194 others(50): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0083 | 1 | 72 | 0.0139 | 33 | c.194 others(50): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | chr12 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109444583 | A | AAGGCCGA others(26): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0096 | 1 | 310 | 0.0032 | 33 | c.299 others(48): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0187 a0001c0001t0016g0252 |
2 | 32 | 0.0625 | 33 | c.220 others(52): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 153 | 0.0065 | 33 | c.268 others(52): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 104 | 0.0096 | 33 | c.256 others(52): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00642.hp2 HG04184.hp2 NA18941.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0154 a0001c0001t0001g0162 others(1): Show |
4 | 107 | 0.0374 | 33 | c.256 others(52): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | AATTATAT others(26): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 122 | 0.0082 | 33 | c.218 others(52): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0233 a0001c0004t0003g0238 |
2 | 38 | 0.0526 | 33 | c.258 others(50): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0016 | a0016c0036 | a0016c0036t0002 | a0016c0036t0002g0207 | 1 | 14 | 0.0714 | 33 | c.730 others(50): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AGAAAGAA others(26): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 75 | 0.0133 | 33 | c.88+ others(48): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar |