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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH6_chr2_47778145_47811953 | 47782984 | CGTGCCAG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 388 | 0.0026 | -27 | c.-24 others(36): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 160 | chr2 | TogoVar | |||||||
MSH6_chr2_47778145_47811953 | 47788900 | CTTCTTCC others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0015 | a0001c0001t0001a0001c0007t0001a0001c0015t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0203 others(7): Show |
12 | 357 | 0.0336 | -27 | c.261 others(44): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSL2_chr3_136143917_136201335 | 136157201 | TGATCACC others(20): Show |
T | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0118 | 1 | 306 | 0.0033 | -27 | c.143 others(44): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MSL2_chr3_136143917_136201335 | 136157256 | GATCACCT others(20): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01109.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(32): Show |
35 | 308 | 0.1136 | -27 | c.143 others(44): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767691 | TGGAGGGG others(20): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02258.hp2 HG02486.hp1 others(3): Show |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0022 a0006c0011t0001g0230 a0006c0011t0001g0231 others(2): Show |
6 | 386 | 0.0155 | -27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767882 | AGGAGGGG others(20): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 362 | 0.0028 | -27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10358565 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG00741.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 others(34): Show |
37 | 51 | 0.7255 | -27 | c.543 others(46): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSRB2_chr10_23090579_23127013 | 23109965 | ACCGACTT others(20): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 440 | 0.0023 | -27 | c.220 others(42): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
MSRB2_chr10_23090579_23127013 | 23111785 | CAATTTAA others(20): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 127 | 0.0079 | -27 | c.296 others(44): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566800 | AAGAAAGA others(20): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 426 | 0.0023 | -27 | c.32- others(40): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42586556 | AAACACAC others(20): Show |
A | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 309 | 0.0032 | -27 | c.190 others(44): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682247 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | NA18984.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0030 a0001c0001t0004g0308 |
2 | 364 | 0.0055 | -27 | c.484 others(44): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682249 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0303 | 1 | 366 | 0.0027 | -27 | c.484 others(44): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682258 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0132 | 1 | 357 | 0.0028 | -27 | c.484 others(44): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150916737 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00609.hp2 others(66): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0035 others(66): Show |
69 | 78 | 0.8846 | -27 | c.893 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397137 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 304 | 0.0033 | -27 | c.42- others(42): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFSD_chr16_86525186_86560235 | 86546078 | AAGTCTCG others(20): Show |
A | intron_variant | MODIFIER | HG02083.hp1 NA20300.hp1 |
a0004a0015 | a0004c0004a0015c0013 | a0004c0004t0001a0015c0013t0009 | a0004c0004t0001g0061 a0015c0013t0009g0118 |
2 | 406 | 0.0049 | -27 | c.442 others(42): Show |
MTHFSD | ENSG00000103248.19 | transcript | ENST00000360900.11 | protein_coding | 5/7 | chr16 | TogoVar | |||||||
MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | 22 | 0.0909 | -27 | c.148 others(48): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTSS2_chr16_70656204_70691053 | 70686141 | GGGCCGCG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01496.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0169 a0003c0005t0001g0168 |
2 | 396 | 0.0051 | -27 | c.-37 others(36): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 89 | chr16 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29068437 | ATATTTCT others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp2 others(25): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0043 a0001c0001t0002g0078 a0001c0001t0003g0038 others(25): Show |
28 | 90 | 0.3111 | -27 | c.244 others(48): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100971860 | AGGTGGCA others(20): Show |
A | intron_variant | MODIFIER | NA19057.hp2 | a0133 | a0133c0083 | a0133c0083t0001 | a0133c0083t0001g0134 | 1 | 340 | 0.0029 | -27 | c.67+ others(42): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MUC15_chr11_26554032_26577263 | 26556374 | CTCAATAC others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0008others(17): Show | a0001c0002t0003g0012 a0001c0002t0003g0030 a0001c0002t0003g0031 others(58): Show |
80 | 464 | 0.1724 | -27 | c.*46 others(38): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 2657 | chr11 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195745513 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0072a0101 | a0072c0122a0101c0114 | a0072c0122t0007a0101c0114t0007 | a0072c0122t0007g0186 a0101c0114t0007g0009 |
2 | 245 | 0.0082 | -27 | c.*16 others(38): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1257 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767359 | GCTACCAC others(20): Show |
G | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0055 | 1 | 248 | 0.0040 | -27 | c.135 others(46): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767529 | CGCCACCA others(20): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0075 | a0075c0113 | a0075c0113t0001 | a0075c0113t0001g0008 | 1 | 236 | 0.0042 | -27 | c.135 others(46): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1029721 | CCCCCTCC others(20): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0101 | a0001c0101t0002 | a0001c0101t0002g0210 | 1 | 403 | 0.0025 | -27 | c.101 others(44): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 8/32 | chr11 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109587400 | GTGCGATT others(20): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0142 | 1 | 380 | 0.0026 | -27 | c.677 others(42): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110215063 | ATGGAGTC others(20): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0303 | 1 | 370 | 0.0027 | -27 | c.274 others(44): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1355386 | CCCCCGAC others(20): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 336 | 0.0030 | -27 | c.376 others(40): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878635 | AAAAAAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0009 | 2 | 349 | 0.0057 | -27 | c.*41 others(38): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2201 | chr19 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878637 | AAAAAAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0027 | 1 | 368 | 0.0027 | -27 | c.*41 others(38): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2203 | chr19 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | CCTTCTTC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0006a0002c0002 | a0001c0005t0002a0001c0005t0005a0001c0006t0002others(1): Show | a0001c0005t0002g0020 a0001c0005t0005g0021 a0001c0006t0002g0023 others(3): Show |
6 | 121 | 0.0496 | -27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101681566 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0005 | 1 | 358 | 0.0028 | -27 | c.343 others(46): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101681572 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0007t0008 | a0001c0001t0008g0011 a0001c0007t0008g0042 a0001c0007t0008g0100 others(3): Show |
6 | 358 | 0.0168 | -27 | c.343 others(46): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50459507 | TGGGGGTG others(20): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 a0001c0001t0001g0316 |
2 | 390 | 0.0051 | -27 | c.279 others(44): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02976.hp2 |
a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0186 a0003c0011t0001g0203 |
2 | 198 | 0.0101 | -27 | c.*51 others(36): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50261247 | ACATCACC others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0099 | 1 | 296 | 0.0034 | -27 | c.242 others(44): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 20/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH6_chr14_23376987_23413273 | 23397929 | CTCCTCTT others(20): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0058 | a0002c0058t0002 | a0002c0058t0002g0041 | 1 | 353 | 0.0028 | -27 | c.189 others(44): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYH6_chr14_23376987_23413273 | 23397932 | CTCTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 |
a0002 | a0002c0019a0002c0025 | a0002c0019t0001a0002c0025t0001 | a0002c0019t0001g0136 a0002c0025t0001g0053 |
2 | 110 | 0.0182 | -27 | c.189 others(44): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16796299 | GAAGGAAA others(20): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(136): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0022others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(123): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0180 others(136): Show |
139 | 270 | 0.5148 | -27 | c.280 others(44): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | |||||||
MYO15B_chr17_75582800_75631849 | 75589320 | CAAGGGGC others(20): Show |
C | conservative_inframe_deletion | MODERATE | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0003a0013a0066others(1): Show | a0003c0008a0003c0024a0003c0025others(29): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(29): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(38): Show |
43 | 382 | 0.1126 | -27 | c.126 others(36): Show |
p.Lys others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1522/9914 | 1264/9291 | 422/3096 | chr17 | TogoVar | |||
MYO1F_chr19_8515778_8582442 | 8543849 | GTGGTGGT others(20): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0147 a0001c0011t0001g0149 |
2 | 300 | 0.0067 | -27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543870 | GTGGTGCT others(20): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0335 | 1 | 331 | 0.0030 | -27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543897 | CTGGTGGT others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0038 a0001c0001t0003g0264 a0001c0001t0003g0269 |
3 | 225 | 0.0133 | -27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543939 | CTGGTGGT others(20): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0266 a0001c0003t0003g0268 |
2 | 269 | 0.0074 | -27 | c.152 others(44): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49917462 | AAAACGTT others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0013others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(39): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0018 others(96): Show |
99 | 236 | 0.4195 | -27 | c.209 others(46): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 17/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49919269 | CAATGCAC others(20): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp2 others(26): Show |
a0002a0009a0015others(1): Show | a0002c0003a0002c0009a0002c0010others(7): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0020others(11): Show | a0002c0003t0002g0010 a0002c0003t0002g0107 a0002c0003t0002g0133 others(26): Show |
29 | 236 | 0.1229 | -27 | c.209 others(46): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 17/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp2 HG03831.hp2 others(2): Show |
a0002a0004a0008others(1): Show | a0002c0005a0002c0023a0004c0007others(2): Show | a0002c0005t0015a0002c0023t0003a0004c0007t0022others(2): Show | a0002c0005t0015g0177 a0002c0023t0003g0201 a0004c0007t0022g0193 others(2): Show |
5 | 215 | 0.0233 | -27 | c.28- others(44): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122637 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0197 | 1 | 233 | 0.0043 | -27 | c.28- others(44): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52285410 | TCCTCTCC others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00741.hp2 others(39): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0004a0001c0027others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0160 others(37): Show |
42 | 358 | 0.1173 | -27 | c.28- others(42): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar |