| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYCBPAP_chr17_50503439_50536501 | 50524737 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 HG02735.hp2 others(8): Show |
a0002a0018 | a0002c0003a0018c0020 | a0002c0003t0001a0018c0020t0001 | a0002c0003t0001g0117a0002c0003t0001g0294a0002c0003t0001g0295others(8): Show | 11 | 376 | 0.0293 | 18 | c.163 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MYCBPAP_chr17_50503439_50536501 | 50530497 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0177 | 1 | 376 | 0.0027 | 18 | c.272 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MYCT1_chr6_152692897_152729569 | 152697679 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(30): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0117others(17): Show | 33 | 444 | 0.0743 | 18 | c.-22 others(27): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 217 | chr6 | TogoVar | ||||||
| MYCT1_chr6_152692897_152729569 | 152697699 | C | CACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025 | a0001c0001t0017g0166a0001c0001t0025g0141 | 2 | 444 | 0.0045 | 18 | c.-20 others(27): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 197 | chr6 | TogoVar | ||||||
| MYCT1_chr6_152692897_152729569 | 152706847 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023 | a0001c0001t0017g0166a0001c0001t0023g0167 | 2 | 444 | 0.0045 | 18 | c.196 others(35): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYCT1_chr6_152692897_152729569 | 152706869 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0173 | 1 | 444 | 0.0023 | 18 | c.196 others(35): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYC_chr8_127731231_127747951 | 127747494 | A | AAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | 18 | c.*65 others(29): Show |
MYC | ENSG00000136997.22 | transcript | ENST00000621592.8 | protein_coding | 4544 | chr8 | TogoVar | ||||||
| MYDGF_chr19_4652545_4675342 | 4672159 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0070 | 1 | 410 | 0.0024 | 18 | c.-18 others(29): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1818 | chr19 | TogoVar | ||||||
| MYDGF_chr19_4652545_4675342 | 4672266 | T | TATATATT others(11): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 18 | c.-19 others(29): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1925 | chr19 | TogoVar | ||||||
| MYDGF_chr19_4652545_4675342 | 4672469 | A | ATATATTC others(11): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 410 | 0.0024 | 18 | c.-21 others(29): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 2128 | chr19 | TogoVar | ||||||
| MYEF2_chr15_48129632_48183295 | 48160486 | T | TACATACA others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0053 | 1 | 264 | 0.0038 | 18 | c.526 others(33): Show |
MYEF2 | ENSG00000104177.20 | transcript | ENST00000324324.12 | protein_coding | 5/16 | chr15 | TogoVar | ||||||
| MYH10_chr17_8469224_8635725 | 8489706 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01167.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0004g0248a0001c0002t0002g0048a0001c0002t0002g0095others(17): Show | 20 | 274 | 0.0730 | 18 | c.488 others(35): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 35/42 | chr17 | TogoVar | ||||||
| MYH10_chr17_8469224_8635725 | 8489708 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0107 | 1 | 274 | 0.0037 | 18 | c.488 others(35): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 35/42 | chr17 | TogoVar | ||||||
| MYH10_chr17_8469224_8635725 | 8585286 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01175.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0035others(25): Show | 28 | 274 | 0.1022 | 18 | c.530 others(35): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | ||||||
| MYH10_chr17_8469224_8635725 | 8592933 | C | CCATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(15): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0035a0001c0001t0001g0086others(15): Show | 18 | 274 | 0.0657 | 18 | c.503 others(35): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | ||||||
| MYH10_chr17_8469224_8635725 | 8601165 | T | TTGCCTGC others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 274 | 0.0037 | 18 | c.502 others(35): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | ||||||
| MYH11_chr16_15698135_15862028 | 15705984 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 NA19060.hp2 |
a0001 | a0001c0006a0001c0009a0001c0032 | a0001c0006t0001a0001c0009t0001a0001c0032t0001 | a0001c0006t0001g0136a0001c0009t0001g0225a0001c0032t0001g0179 | 3 | 297 | 0.0101 | 18 | c.578 others(37): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
| MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0013a0001c0018 | a0001c0013t0001a0001c0018t0001 | a0001c0013t0001g0159a0001c0018t0001g0144a0001c0018t0001g0145others(1): Show | 4 | 297 | 0.0135 | 18 | c.578 others(37): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
| MYH13_chr17_10295865_10378006 | 10306220 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0008 | a0008c0063 | a0008c0063t0001 | a0008c0063t0001g0298 | 1 | 382 | 0.0026 | 18 | c.546 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 37/40 | chr17 | TogoVar | ||||||
| MYH13_chr17_10295865_10378006 | 10323778 | A | AAAGAAGA others(11): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0170 | 1 | 382 | 0.0026 | 18 | c.293 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | ||||||
| MYH13_chr17_10295865_10378006 | 10326981 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0072 | 1 | 382 | 0.0026 | 18 | c.269 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 22/40 | chr17 | TogoVar | ||||||
| MYH13_chr17_10295865_10378006 | 10351220 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02257.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0119a0002c0011others(2): Show | a0001c0004t0001a0001c0119t0001a0002c0011t0001others(2): Show | a0001c0004t0001g0027a0001c0119t0001g0274a0002c0011t0001g0081others(3): Show | 6 | 382 | 0.0157 | 18 | c.100 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 11/40 | chr17 | TogoVar | ||||||
| MYH14_chr19_50198622_50315540 | 50207271 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01070.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(17): Show | a0001c0002t0002g0254a0001c0002t0003g0146a0001c0002t0004g0252others(17): Show | 20 | 298 | 0.0671 | 18 | c.-3- others(33): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYH14_chr19_50198622_50315540 | 50267623 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02280.hp2 HG02965.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0007a0001c0011others(10): Show | a0001c0003t0002a0001c0007t0004a0001c0011t0013others(10): Show | a0001c0003t0002g0232a0001c0007t0004g0139a0001c0011t0013g0072others(10): Show | 13 | 298 | 0.0436 | 18 | c.282 others(35): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 23/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MYH2_chr17_10516148_10554658 | 10546255 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02683.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059a0001c0003t0001g0060 | 2 | 352 | 0.0057 | 18 | c.349 others(33): Show |
MYH2 | ENSG00000125414.19 | transcript | ENST00000245503.10 | protein_coding | 4/39 | chr17 | TogoVar | ||||||
| MYH2_chr17_10516148_10554658 | 10546256 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0176a0001c0001t0001g0184a0001c0001t0001g0185others(16): Show | 25 | 352 | 0.0710 | 18 | c.349 others(33): Show |
MYH2 | ENSG00000125414.19 | transcript | ENST00000245503.10 | protein_coding | 4/39 | chr17 | TogoVar | ||||||
| MYH6_chr14_23376987_23413273 | 23390910 | C | CAGATACC others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0319 | 1 | 370 | 0.0027 | 18 | c.334 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 25/38 | chr14 | TogoVar | ||||||
| MYH6_chr14_23376987_23413273 | 23397929 | C | CTCTTCTT others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 370 | 0.0027 | 18 | c.189 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
| MYH6_chr14_23376987_23413273 | 23397932 | C | CTCTTCTT others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03710.hp2 NA18983.hp2 |
a0001a0002a0003 | a0001c0001a0002c0014a0003c0005 | a0001c0001t0001a0002c0014t0001a0003c0005t0001 | a0001c0001t0001g0234a0002c0014t0001g0135a0003c0005t0001g0134 | 3 | 370 | 0.0081 | 18 | c.189 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
| MYH6_chr14_23376987_23413273 | 23397946 | C | CTTCTTCT others(11): Show |
intron_variant | MODIFIER | HG02129.hp1 HG04204.hp1 |
a0004a0032 | a0004c0003a0032c0034 | a0004c0003t0001a0032c0034t0001 | a0004c0003t0001g0075a0032c0034t0001g0074 | 2 | 370 | 0.0054 | 18 | c.189 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
| MYH6_chr14_23376987_23413273 | 23397949 | C | CTTCTTCT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01928.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0070a0004c0003t0001g0071 | 2 | 370 | 0.0054 | 18 | c.189 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
| MYH7_chr14_23407740_23440660 | 23423436 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0207 | 1 | 346 | 0.0029 | 18 | c.309 others(34): Show |
MYH7 | ENSG00000092054.13 | transcript | ENST00000355349.4 | protein_coding | 24/39 | chr14 | TogoVar | ||||||
| MYH9_chr22_36276280_36392967 | 36312473 | G | GGTCTGAT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 242 | 0.0041 | 18 | c.155 others(35): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 13/40 | chr22 | TogoVar | ||||||
| MYH9_chr22_36276280_36392967 | 36354956 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01099.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0067a0001c0001t0003g0065a0001c0001t0003g0084others(2): Show | 5 | 242 | 0.0207 | 18 | c.-19 others(35): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
| MYH9_chr22_36276280_36392967 | 36360030 | A | ACACCACC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0058a0001c0001t0002g0078a0001c0001t0002g0086others(14): Show | 17 | 242 | 0.0703 | 18 | c.-19 others(37): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
| MYH9_chr22_36276280_36392967 | 36384611 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 242 | 0.0041 | 18 | c.-20 others(35): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
| MYL1_chr2_210285150_210320174 | 210308399 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 398 | 0.0025 | 18 | c.133 others(35): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
| MYLIP_chr6_16124086_16153248 | 16135748 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0010 | a0001c0001t0005g0016a0001c0001t0005g0137a0001c0001t0005g0155others(2): Show | 8 | 416 | 0.0192 | 18 | c.278 others(35): Show |
MYLIP | ENSG00000007944.15 | transcript | ENST00000356840.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MYLK3_chr16_46697282_46753344 | 46742445 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082 | 2 | 218 | 0.0092 | 18 | c.478 others(35): Show |
MYLK3 | ENSG00000140795.13 | transcript | ENST00000394809.9 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2683391 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 384 | 0.0052 | 18 | c.546 others(33): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2699287 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0078a0001c0001t0001g0155a0001c0001t0002g0041others(27): Show | 30 | 384 | 0.0781 | 18 | c.160 others(35): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2725577 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01074.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0368a0001c0001t0002g0140a0001c0001t0002g0143others(17): Show | 20 | 384 | 0.0521 | 18 | c.159 others(37): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123677884 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02818.hp2 |
a0003a0043 | a0003c0007a0043c0089 | a0003c0007t0012a0003c0007t0015a0043c0089t0038 | a0003c0007t0012g0122a0003c0007t0015g0152a0043c0089t0038g0110 | 3 | 156 | 0.0192 | 18 | c.365 others(37): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 20/33 | chr3 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123677918 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18998.hp1 NA19060.hp1 others(1): Show |
a0002a0029 | a0002c0002a0002c0003a0029c0044 | a0002c0002t0022a0002c0002t0031a0002c0003t0003others(1): Show | a0002c0002t0022g0133a0002c0002t0031g0100a0002c0003t0003g0132others(1): Show | 4 | 156 | 0.0256 | 18 | c.365 others(37): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 20/33 | chr3 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123677918 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 NA20300.hp1 |
a0002a0037 | a0002c0003a0037c0058 | a0002c0003t0007a0037c0058t0002 | a0002c0003t0007g0003a0037c0058t0002g0043 | 2 | 156 | 0.0128 | 18 | c.365 others(37): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 20/33 | chr3 | TogoVar | ||||||
| MYMK_chr9_133509586_133529959 | 133523682 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 456 | 0.0044 | 18 | c.135 others(35): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
| MYO10_chr5_16656907_16941288 | 16662316 | A | ATTTTTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG03491.hp1 HG03942.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0073a0001c0003t0069a0002c0002t0056others(1): Show | a0001c0001t0073g0077a0001c0003t0069g0135a0002c0002t0056g0121others(1): Show | 4 | 272 | 0.0147 | 18 | c.*43 others(29): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 4375 | chr5 | TogoVar | |||||
| MYO10_chr5_16656907_16941288 | 16757303 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19240.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0020a0005c0005t0020 | a0001c0001t0020g0215a0005c0005t0020g0182 | 2 | 272 | 0.0074 | 18 | c.184 others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 18/40 | chr5 | TogoVar | ||||||
| MYO10_chr5_16656907_16941288 | 16791547 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0111 | 1 | 272 | 0.0037 | 18 | c.467 others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 4/40 | chr5 | TogoVar | ||||||
| MYO10_chr5_16656907_16941288 | 16823446 | C | CGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02155.hp1 HG03654.hp2 others(3): Show |
a0002a0003a0005others(2): Show | a0002c0002a0003c0007a0005c0070others(2): Show | a0002c0002t0015a0002c0002t0071a0003c0007t0095others(3): Show | a0002c0002t0015g0162a0002c0002t0071g0206a0003c0007t0095g0123others(3): Show | 6 | 272 | 0.0221 | 18 | c.121 others(35): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar |