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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195767463 | TACCACCA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp1 |
a0079a0099 | a0079c0147a0099c0145 | a0079c0147t0004a0099c0145t0008 | a0079c0147t0004g0231 a0099c0145t0008g0055 |
2 | 249 | 0.0080 | -18 | c.135 others(37): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767805 | TCACCACC others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001a0080a0085others(3): Show | a0001c0018a0080c0149a0085c0146others(3): Show | a0001c0018t0010a0080c0149t0006a0085c0146t0004others(3): Show | a0001c0018t0010g0003 a0080c0149t0006g0079 a0085c0146t0004g0233 others(3): Show |
6 | 249 | 0.0241 | -18 | c.135 others(39): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110689856 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0006a0001c0001t0030a0001c0002t0001others(7): Show | a0001c0001t0006g0004 a0001c0001t0030g0091 a0001c0002t0001g0099 others(21): Show |
24 | 326 | 0.0736 | -18 | c.358 others(35): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689931 | TATATAAA others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG03669.hp1 |
a0001a0004 | a0001c0002a0004c0024 | a0001c0002t0003a0004c0024t0010 | a0001c0002t0003g0292 a0004c0024t0010g0042 |
2 | 326 | 0.0061 | -18 | c.358 others(35): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSTN1_chr3_52828121_52840019 | 52837984 | ATGTGTGT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
335 | 388 | 0.8634 | -18 | c.-30 others(29): Show |
MUSTN1 | ENSG00000272573.6 | transcript | ENST00000446157.3 | protein_coding | 2966 | chr3 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126420561 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0134 | 1 | 318 | 0.0031 | -18 | c.663 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MX1_chr21_41421239_41464212 | 41448930 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0003a0001c0008a0001c0017 | a0001c0003t0005a0001c0008t0002a0001c0008t0005others(2): Show | a0001c0003t0005g0190 a0001c0003t0005g0191 a0001c0008t0002g0212 others(7): Show |
11 | 408 | 0.0270 | -18 | c.127 others(35): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110260416 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 372 | 0.0027 | -18 | c.437 others(37): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYADML2_chr17_81934645_81952233 | 81950943 | AATGGGCA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0117 | 1 | 376 | 0.0027 | -18 | c.-40 others(29): Show |
MYADML2 | ENSG00000185105.5 | transcript | ENST00000409745.2 | protein_coding | 3711 | chr17 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878640 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 378 | 0.0027 | -18 | c.*41 others(29): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2206 | chr19 | TogoVar | |||||||
MYBL1_chr8_66557175_66618218 | 66602699 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 238 | 0.0042 | -18 | c.21- others(31): Show |
MYBL1 | ENSG00000185697.17 | transcript | ENST00000522677.8 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
MYBL1_chr8_66557175_66618218 | 66602717 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 238 | 0.0042 | -18 | c.21- others(31): Show |
MYBL1 | ENSG00000185697.17 | transcript | ENST00000522677.8 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
MYBL2_chr20_43662114_43721482 | 43698351 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(100): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0017a0002c0003others(5): Show | a0001c0001t0001a0001c0017t0002a0002c0003t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0048 others(95): Show |
103 | 274 | 0.3759 | -18 | c.664 others(35): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591771 | TCTTCTCC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 NA19001.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0076 a0001c0004t0005g0234 |
2 | 360 | 0.0056 | -18 | c.-32 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3199 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591837 | CCTTCTCC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0067 | 1 | 360 | 0.0028 | -18 | c.-32 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3133 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101666894 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0223 | 1 | 360 | 0.0028 | -18 | c.235 others(35): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101681578 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 360 | 0.0028 | -18 | c.343 others(37): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101686553 | CCTTTACT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0067 | 1 | 360 | 0.0028 | -18 | c.*99 others(28): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 526 | chr12 | TogoVar | |||||||
MYB_chr6_135176308_135224172 | 135180403 | ATTTTTTT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp1 NA18978.hp2 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0219 a0001c0001t0001g0268 |
4 | 400 | 0.0100 | -18 | c.-11 others(29): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 904 | chr6 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77056099 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0243 | 1 | 334 | 0.0030 | -18 | c.134 others(37): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 79/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286785 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0015 | a0015c0018 | a0015c0018t0003 | a0015c0018t0003g0004 | 1 | 334 | 0.0030 | -18 | c.594 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77326240 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 others(6): Show |
9 | 334 | 0.0270 | -18 | c.302 others(33): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1/82 | chr13 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144850 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 408 | 0.0025 | -18 | c.*35 others(29): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1829 | chr3 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144852 | AAAAAAAA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01433.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0001 a0001c0005t0003g0001 |
4 | 408 | 0.0098 | -18 | c.*35 others(29): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1831 | chr3 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672094 | CATATATT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 410 | 0.0024 | -18 | c.-17 others(29): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1753 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672150 | TATATATG others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 410 | 0.0024 | -18 | c.-18 others(29): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1809 | chr19 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8511047 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 274 | 0.0037 | -18 | c.295 others(37): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 24/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15766344 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0012 | a0012c0058 | a0012c0058t0001 | a0012c0058t0001g0190 | 1 | 297 | 0.0034 | -18 | c.103 others(37): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 9/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15806065 | TCAGGAGT others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0004 | a0001c0004a0001c0005a0001c0013others(3): Show | a0001c0004t0002a0001c0005t0001a0001c0013t0002others(3): Show | a0001c0004t0002g0175 a0001c0005t0001g0183 a0001c0013t0002g0162 others(3): Show |
6 | 297 | 0.0202 | -18 | c.503 others(35): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15806279 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 NA18981.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0019 a0002c0001t0001g0198 a0002c0001t0001g0247 |
3 | 297 | 0.0101 | -18 | c.503 others(35): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0340 | 1 | 382 | 0.0026 | -18 | c.*52 others(27): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10323781 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02965.hp2 others(1): Show |
a0001a0026 | a0001c0046a0001c0062a0026c0055 | a0001c0046t0001a0001c0062t0001a0026c0055t0001 | a0001c0046t0001g0265 a0001c0046t0001g0271 a0001c0062t0001g0262 others(1): Show |
4 | 382 | 0.0105 | -18 | c.293 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10326981 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19003.hp2 others(2): Show |
a0001a0005 | a0001c0012a0005c0016 | a0001c0012t0001a0005c0016t0001 | a0001c0012t0001g0267 a0001c0012t0001g0272 a0005c0016t0001g0035 others(2): Show |
5 | 382 | 0.0131 | -18 | c.269 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 22/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10355828 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0014a0001c0015a0001c0034others(5): Show | a0001c0014t0001a0001c0015t0001a0001c0034t0001others(5): Show | a0001c0014t0001g0010 a0001c0015t0001g0011 a0001c0015t0001g0014 others(13): Show |
16 | 382 | 0.0419 | -18 | c.739 others(33): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 8/40 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50207253 | GAGAAAGA others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00673.hp1 others(10): Show |
a0001a0002a0030 | a0001c0003a0001c0005a0001c0008others(8): Show | a0001c0003t0002a0001c0003t0003a0001c0005t0001others(9): Show | a0001c0003t0002g0037 a0001c0003t0003g0027 a0001c0005t0001g0049 others(10): Show |
13 | 298 | 0.0436 | -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 | 50289028 | CACTGATG others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0006a0001c0011a0001c0040others(2): Show | a0001c0006t0001a0001c0011t0001a0001c0040t0001others(2): Show | a0001c0006t0001g0201 a0001c0011t0001g0291 a0001c0040t0001g0052 others(2): Show |
5 | 298 | 0.0168 | -18 | c.475 others(35): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 34/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108400809 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0187 a0004c0004t0002g0188 |
2 | 306 | 0.0065 | -18 | c.473 others(37): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 33/40 | chr3 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108454671 | CCTCTGTT others(11): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0002 a0002c0002t0001g0026 a0002c0002t0001g0027 others(21): Show |
25 | 306 | 0.0817 | -18 | c.226 others(35): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 20/40 | chr3 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108471145 | GGAAAGGA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0189 | 1 | 306 | 0.0033 | -18 | c.123 others(35): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 12/40 | chr3 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108507226 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp1 HG02257.hp1 others(1): Show |
a0003a0006a0012 | a0003c0003a0003c0024a0006c0007others(1): Show | a0003c0003t0002a0003c0024t0002a0006c0007t0001others(1): Show | a0003c0003t0002g0268 a0003c0024t0002g0267 a0006c0007t0001g0173 others(1): Show |
4 | 306 | 0.0131 | -18 | c.89- others(33): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 1/40 | chr3 | TogoVar | |||||||
MYH2_chr17_10516148_10554658 | 10546256 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0004 | a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0245 others(1): Show |
4 | 352 | 0.0114 | -18 | c.349 others(33): Show |
MYH2 | ENSG00000125414.19 | transcript | ENST00000245503.10 | protein_coding | 4/39 | chr17 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23387008 | TATTCCCA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0319 | 1 | 370 | 0.0027 | -18 | c.465 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 32/38 | chr14 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23397929 | CTCCTCTT others(11): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0025a0002c0026 | a0002c0025t0001a0002c0026t0001 | a0002c0025t0001g0049 a0002c0026t0001g0034 |
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 | 23397932 | CTCTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01978.hp1 others(16): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0087 a0001c0001t0001g0151 a0001c0001t0001g0192 others(16): Show |
19 | 370 | 0.0514 | -18 | c.189 others(35): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYH7B_chr20_34950868_35007437 | 34997397 | CGAGGGCT others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02886.hp2 | a0020 | a0020c0049 | a0020c0049t0002 | a0020c0049t0002g0030 | 1 | 338 | 0.0030 | -18 | c.350 others(27): Show |
p.Gly others(15): Show |
MYH7B | ENSG00000078814.19 | transcript | ENST00000262873.13 | protein_coding | 32/45 | 3985/6551 | 3509/5826 | 1170/1941 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
MYH9_chr22_36276280_36392967 | 36354956 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 242 | 0.0041 | -18 | c.-19 others(35): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384603 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0056 a0001c0001t0004g0057 |
2 | 242 | 0.0083 | -18 | c.-20 others(35): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101608649 | TCCTGGTA others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 398 | 0.0025 | -18 | c.*48 others(29): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 4680 | chr7 | TogoVar | |||||||
MYL12B_chr18_3257133_3283461 | 3262401 | AGGGAGGA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(212): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(64): Show |
215 | 430 | 0.5000 | -18 | c.-16 others(33): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MYL1_chr2_210285150_210320174 | 210308399 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(124): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(39): Show |
127 | 398 | 0.3191 | -18 | c.133 others(35): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/6 | chr2 | TogoVar |