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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110689131 | C | CATAAATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0012a0004c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0099 a0001c0002t0001g0122 a0001c0002t0002g0093 others(18): Show |
21 | 326 | 0.0644 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689674 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(75): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 others(73): Show |
78 | 326 | 0.2393 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689709 | A | ATATATTT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02976.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0165 |
3 | 326 | 0.0092 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110689717 | A | ATAGTTAT others(21): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 326 | 0.0031 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689720 | T | TAAATATA others(21): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0180 | 1 | 326 | 0.0031 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110689806 | A | ATAACTAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 others(41): Show |
44 | 326 | 0.1350 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690806 | T | TTAAATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0024 a0001c0001t0003g0022 a0001c0001t0003g0023 others(3): Show |
6 | 326 | 0.0184 | 28 | c.358 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701690 | C | CTATTTTA others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 326 | 0.0031 | 28 | c.628 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110755951 | C | CGTATATA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02451.hp2 HG02976.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0003a0002c0004t0005others(2): Show | a0001c0001t0002g0168 a0001c0002t0003g0294 a0002c0004t0005g0046 others(8): Show |
11 | 326 | 0.0337 | 28 | c.914 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110755979 | C | CGTATATA others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03130.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0169 a0001c0001t0015g0170 a0001c0001t0015g0171 |
3 | 326 | 0.0092 | 28 | c.914 others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02630.hp1 HG02647.hp2 others(8): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0002a0001c0002t0016a0004c0010t0002 | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0011 others(7): Show |
11 | 382 | 0.0288 | 28 | c.*43 others(39): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | |||||||
MVP_chr16_29815462_29853021 | 29843538 | A | AAGGGAGG others(21): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 230 | 0.0044 | 28 | c.163 others(45): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0005c0005t0001 | a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0176 others(3): Show |
6 | 230 | 0.0261 | 28 | c.163 others(45): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 230 | 0.0044 | 28 | c.163 others(45): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843554 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02056.hp2 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 |
3 | 230 | 0.0130 | 28 | c.163 others(45): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 372 | 0.0054 | 28 | c.274 others(45): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1362909 | C | CCGTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | 28 | c.-44 others(39): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 4355 | chr1 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591770 | C | CTCTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0005a0001c0005t0002 | a0001c0004t0005g0029 a0001c0005t0002g0022 a0001c0005t0002g0031 others(1): Show |
4 | 360 | 0.0111 | 28 | c.-33 others(39): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3200 | chr12 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02135.hp1 others(11): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0191 others(11): Show |
14 | 374 | 0.0374 | 28 | c.655 others(43): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294107 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 |
3 | 334 | 0.0090 | 28 | c.378 others(45): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294113 | T | TATACATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | 334 | 0.0060 | 28 | c.378 others(45): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATACATA others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0251 |
2 | 334 | 0.0060 | 28 | c.378 others(45): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00642.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0022 | a0001c0001t0001a0001c0004t0001a0007c0022t0005 | a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0093 others(5): Show |
8 | 334 | 0.0240 | 28 | c.378 others(45): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG02056.hp1 others(3): Show |
a0001a0013a0023 | a0001c0001a0013c0014a0023c0029 | a0001c0001t0001a0013c0014t0001a0023c0029t0001 | a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0071 others(3): Show |
6 | 376 | 0.0160 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG02257.hp1 others(13): Show |
a0001a0021 | a0001c0001a0021c0030 | a0001c0001t0001a0021c0030t0001 | a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0078 others(13): Show |
16 | 376 | 0.0426 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01109.hp2 others(11): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show |
14 | 376 | 0.0372 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19010.hp1 |
a0001a0022 | a0001c0001a0022c0037 | a0001c0001t0001a0022c0037t0001 | a0001c0001t0001g0031 a0022c0037t0001g0228 |
2 | 376 | 0.0053 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0129 others(1): Show |
5 | 376 | 0.0133 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0080 | 1 | 376 | 0.0027 | 28 | c.125 others(45): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152697679 | A | AACACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG03209.hp1 HG03486.hp2 others(4): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0004a0002c0002t0009a0002c0002t0010others(1): Show | a0002c0002t0004g0005 a0002c0002t0004g0022 a0002c0002t0004g0053 others(3): Show |
7 | 444 | 0.0158 | 28 | c.-22 others(37): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 217 | chr6 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38138849 | T | TGGCGGAG others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA18972.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001 | 1 | 408 | 0.0025 | 28 | c.151 others(35): Show |
p.Glu others(4): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1/5 | 219/2667 | 179/891 | 60/296 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MYDGF_chr19_4652545_4675342 | 4672112 | T | TATATATT others(21): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 410 | 0.0024 | 28 | c.-17 others(39): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1771 | chr19 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8489706 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19009.hp2 NA19056.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0007 | a0001c0002t0002g0224 a0001c0003t0007g0067 a0001c0003t0007g0166 |
3 | 274 | 0.0110 | 28 | c.488 others(45): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 35/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8585286 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 274 | 0.0037 | 28 | c.530 others(45): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8585288 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 274 | 0.0037 | 28 | c.530 others(45): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8592933 | C | CCATATAT others(21): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0118 a0001c0002t0002g0179 a0001c0002t0002g0234 others(1): Show |
4 | 274 | 0.0146 | 28 | c.503 others(45): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01433.hp1 others(18): Show |
a0001a0002 | a0001c0006a0001c0009a0001c0010others(4): Show | a0001c0006t0001a0001c0009t0001a0001c0010t0001others(4): Show | a0001c0006t0001g0068 a0001c0009t0001g0225 a0001c0010t0001g0010 others(18): Show |
21 | 297 | 0.0707 | 28 | c.578 others(47): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15788077 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0031 | 1 | 297 | 0.0034 | 28 | c.531 others(45): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0017 | a0017c0037 | a0017c0037t0001 | a0017c0037t0001g0294 | 1 | 297 | 0.0034 | 28 | c.531 others(45): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15833385 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 297 | 0.0034 | 28 | c.345 others(45): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 2/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15833389 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0003a0001c0006t0001 | a0001c0004t0003g0080 a0001c0004t0003g0083 a0001c0006t0001g0079 |
3 | 297 | 0.0101 | 28 | c.345 others(45): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 2/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10299896 | A | AGATATAT others(21): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0109 | 1 | 382 | 0.0026 | 28 | c.*10 others(39): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 968 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50207271 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18986.hp2 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0154 a0001c0002t0001g0094 a0001c0014t0001g0153 others(1): Show |
4 | 298 | 0.0134 | 28 | c.-3- others(43): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG02004.hp2 others(13): Show |
a0001a0002a0016 | a0001c0001a0001c0024a0001c0026others(3): Show | a0001c0001t0001a0001c0024t0001a0001c0026t0001others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0001g0125 others(11): Show |
16 | 360 | 0.0444 | 28 | c.516 others(45): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | |||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(21): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00738.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(11): Show |
28 | 430 | 0.0651 | 28 | c.*39 others(39): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | |||||||
MYLIP_chr6_16124086_16153248 | 16127999 | C | CAAATGTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 416 | 0.0024 | 28 | c.-13 others(39): Show |
MYLIP | ENSG00000007944.15 | transcript | ENST00000356840.8 | protein_coding | 1086 | chr6 | TogoVar | |||||||
MYLIP_chr6_16124086_16153248 | 16135748 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 416 | 0.0024 | 28 | c.278 others(45): Show |
MYLIP | ENSG00000007944.15 | transcript | ENST00000356840.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607726 | T | TATATTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0007 | a0007c0016 | a0007c0016t0051 | a0007c0016t0051g0112 | 1 | 156 | 0.0064 | 28 | c.*63 others(39): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2322 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123820611 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0013 | a0004c0013t0002 | a0004c0013t0002g0053 | 1 | 156 | 0.0064 | 28 | c.-4+ others(45): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 3/33 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771305 | A | AAAAAATT others(21): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 350 | 0.0029 | 28 | c.-21 others(39): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2090 | chr3 | TogoVar |