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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYBPC2_chr19_50427892_50471321 | 50441859 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0273 | 1 | 396 | 0.0025 | -15 | c.770 others(30): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47345916 | TGTGGCTG others(8): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 374 | 0.0027 | -15 | c.109 others(32): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 12/34 | chr11 | TogoVar | |||||||
MYB_chr6_135176308_135224172 | 135180403 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02040.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(16): Show |
27 | 400 | 0.0675 | -15 | c.-11 others(26): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 904 | chr6 | TogoVar | |||||||
MYB_chr6_135176308_135224172 | 135212224 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243 a0001c0001t0002g0165 a0001c0001t0002g0217 |
3 | 400 | 0.0075 | -15 | c.217 others(34): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77285857 | GGGAAAGG others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(120): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0043 others(120): Show |
123 | 334 | 0.3683 | -15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77285884 | GAAAGGAA others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0031 a0001c0008t0001g0263 a0001c0008t0001g0296 others(6): Show |
9 | 334 | 0.0270 | -15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286755 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02080.hp1 others(6): Show |
a0001a0004 | a0001c0004a0001c0043a0004c0011 | a0001c0004t0001a0001c0043t0001a0004c0011t0001 | a0001c0004t0001g0088 a0001c0004t0001g0151 a0001c0004t0001g0154 others(6): Show |
9 | 334 | 0.0270 | -15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286776 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 334 | 0.0030 | -15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286790 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 334 | 0.0030 | -15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77317938 | AAACATAA others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02004.hp2 HG02451.hp1 others(4): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0211 a0001c0002t0001g0124 a0001c0003t0001g0289 others(4): Show |
7 | 334 | 0.0210 | -15 | c.302 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1/82 | chr13 | TogoVar | |||||||
MYCBP_chr1_38857493_38878348 | 38870799 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0018 a0001c0001t0002g0027 others(4): Show |
10 | 434 | 0.0230 | -15 | c.88+ others(30): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
MYCT1_chr6_152692897_152729569 | 152703940 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01070.hp2 others(49): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0001g0130 others(21): Show |
52 | 444 | 0.1171 | -15 | c.196 others(32): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144853 | AAAAAAAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0011g0010 |
3 | 408 | 0.0074 | -15 | c.*35 others(26): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1832 | chr3 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144855 | AAAAATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 408 | 0.0049 | -15 | c.*35 others(26): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1834 | chr3 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4665820 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA18974.hp1 NA19059.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0280 a0002c0002t0002g0114 a0002c0002t0008g0115 |
3 | 410 | 0.0073 | -15 | c.226 others(30): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8476504 | GTGAGGAG others(8): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0001 a0001c0001t0004g0248 a0001c0001t0006g0006 others(5): Show |
8 | 274 | 0.0292 | -15 | c.587 others(32): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 42/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8486543 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(236): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(236): Show |
239 | 274 | 0.8723 | -15 | c.504 others(32): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 36/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8626578 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 274 | 0.0037 | -15 | c.-31 others(32): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 1/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15806279 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0193 | 1 | 297 | 0.0034 | -15 | c.503 others(32): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15861477 | AAATAATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001a0004 | a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0003t0001a0001c0004t0003a0001c0006t0001others(4): Show | a0001c0003t0001g0082 a0001c0004t0003g0080 a0001c0004t0003g0083 others(6): Show |
9 | 297 | 0.0303 | -15 | c.-45 others(26): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4450 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0275 | 1 | 382 | 0.0026 | -15 | c.*53 others(24): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10323778 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01496.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0001a0002c0009t0001 | a0001c0003t0001g0008 a0001c0003t0001g0043 a0001c0003t0001g0044 others(2): Show |
5 | 382 | 0.0131 | -15 | c.293 others(32): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10323787 | AAAGAAGA others(8): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0009 | a0009c0063 | a0009c0063t0001 | a0009c0063t0001g0298 | 1 | 382 | 0.0026 | -15 | c.293 others(32): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10326981 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001a0005a0008 | a0001c0006a0001c0014a0005c0016others(1): Show | a0001c0006t0001a0001c0014t0001a0005c0016t0001others(1): Show | a0001c0006t0001g0268 a0001c0014t0001g0375 a0005c0016t0001g0068 others(1): Show |
4 | 382 | 0.0105 | -15 | c.269 others(32): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 22/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10355828 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01123.hp1 others(62): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0007others(24): Show | a0001c0003t0001a0001c0004t0001a0001c0007t0001others(24): Show | a0001c0003t0001g0049 a0001c0003t0001g0203 a0001c0003t0001g0204 others(61): Show |
65 | 382 | 0.1702 | -15 | c.739 others(30): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 8/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10377392 | TAAGGCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0005 | a0005c0047 | a0005c0047t0001 | a0005c0047t0001g0099 | 1 | 382 | 0.0026 | -15 | c.-44 others(26): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 4387 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50220350 | TTTTATTT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG04115.hp1 |
a0001 | a0001c0037a0001c0041 | a0001c0037t0003a0001c0041t0002 | a0001c0037t0003g0235 a0001c0041t0002g0136 |
2 | 298 | 0.0067 | -15 | c.562 others(32): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 3/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108410060 | CTTATCAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(92): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0018a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0114 others(90): Show |
95 | 306 | 0.3105 | -15 | c.449 others(32): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 31/40 | chr3 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108427602 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02559.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 others(2): Show |
5 | 306 | 0.0163 | -15 | c.370 others(32): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 27/40 | chr3 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108507227 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0266 | 1 | 306 | 0.0033 | -15 | c.89- others(30): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 1/40 | chr3 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23397929 | CTCCTCTT others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0083 | a0002c0083t0001 | a0002c0083t0001g0200 | 1 | 370 | 0.0027 | -15 | c.189 others(32): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23397932 | CTCTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(13): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0132 others(10): Show |
16 | 370 | 0.0432 | -15 | c.189 others(32): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36360030 | ACACCACC others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 242 | 0.0041 | -15 | c.-19 others(34): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384602 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 242 | 0.0041 | -15 | c.-20 others(32): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384610 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01952.hp2 HG02273.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0002g0241 |
3 | 242 | 0.0124 | -15 | c.-20 others(32): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110913471 | CACTGAGC others(8): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 368 | 0.0027 | -15 | c.275 others(30): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4/6 | chr12 | TogoVar | |||||||
MYL4_chr17_47204348_47228679 | 47216695 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 414 | 0.0024 | -15 | c.163 others(32): Show |
MYL4 | ENSG00000198336.9 | transcript | ENST00000393450.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYL6B_chr12_56147587_56162982 | 56151220 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 360 | 0.0028 | -15 | c.-14 others(26): Show |
MYL6B | ENSG00000196465.11 | transcript | ENST00000695999.1 | protein_coding | 1366 | chr12 | TogoVar | |||||||
MYL7_chr7_44133864_44146332 | 44136633 | AACACACA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 440 | 0.0046 | -15 | c.*22 others(26): Show |
MYL7 | ENSG00000106631.8 | transcript | ENST00000223364.7 | protein_coding | 2230 | chr7 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694578 | CTGGTGGT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 384 | 0.0026 | -15 | c.160 others(32): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607926 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0010 | a0003c0010t0011 | a0003c0010t0011g0075 | 1 | 156 | 0.0064 | -15 | c.*61 others(26): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2122 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607931 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 NA18522.hp1 |
a0003a0014 | a0003c0088a0014c0049 | a0003c0088t0024a0014c0049t0041 | a0003c0088t0024g0010 a0014c0049t0041g0151 |
2 | 156 | 0.0128 | -15 | c.*61 others(26): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2117 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123717839 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(109): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0005others(58): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(92): Show | a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0084 others(109): Show |
112 | 156 | 0.7180 | -15 | c.180 others(34): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 13/33 | chr3 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16663328 | GTTTTTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG02040.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0046others(11): Show | a0001c0001t0009a0001c0001t0102a0001c0001t0122others(20): Show | a0001c0001t0009g0248 a0001c0001t0102g0218 a0001c0001t0122g0109 others(21): Show |
24 | 272 | 0.0882 | -15 | c.*33 others(26): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 3349 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16769922 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0015 | a0001c0015t0111 | a0001c0015t0111g0009 | 1 | 272 | 0.0037 | -15 | c.931 others(30): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 9/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16771547 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG02630.hp2 HG03209.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0012a0001c0001t0020a0001c0001t0143others(2): Show | a0001c0001t0012g0198 a0001c0001t0020g0215 a0001c0001t0143g0178 others(2): Show |
5 | 272 | 0.0184 | -15 | c.931 others(32): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 9/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16852050 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0009 | a0009c0010 | a0009c0010t0110 | a0009c0010t0110g0068 | 1 | 272 | 0.0037 | -15 | c.120 others(34): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO15A_chr17_18103756_18184800 | 18111341 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(165): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0019a0001c0022others(46): Show | a0001c0001t0001a0001c0019t0008a0001c0022t0001others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0064 others(164): Show |
168 | 328 | 0.5122 | -15 | c.-22 others(34): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108636346 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp2 HG03669.hp1 |
a0001a0002 | a0001c0007a0002c0009 | a0001c0007t0001a0002c0009t0003 | a0001c0007t0001g0010 a0002c0009t0003g0003 |
2 | 152 | 0.0132 | -15 | c.28+ others(30): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108644401 | TATCTATC others(8): Show |
T | intron_variant | MODIFIER | NA18969.hp1 | a0015 | a0015c0056 | a0015c0056t0001 | a0015c0056t0001g0057 | 1 | 152 | 0.0066 | -15 | c.28+ others(32): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |