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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOF_chr10_93301429_93487334 | 93431025 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00741.hp1 others(23): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0015 a0001c0001t0002g0168 a0001c0001t0002g0191 others(23): Show |
26 | 238 | 0.1092 | 9 | c.345 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 4/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01975.hp1 others(16): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0045 others(16): Show |
19 | 34 | 0.5588 | 9 | c.-11 others(20): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | |||||||
MYOG_chr1_203078129_203091012 | 203088081 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG03098.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0001 others(8): Show |
13 | 37 | 0.3514 | 9 | c.-21 others(20): Show |
MYOG | ENSG00000122180.5 | transcript | ENST00000241651.5 | protein_coding | 2070 | chr1 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072350 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01123.hp1 others(21): Show |
a0001a0002a0007others(10): Show | a0001c0001a0001c0033a0002c0015others(16): Show | a0001c0001t0003a0001c0033t0003a0002c0015t0001others(17): Show | a0001c0001t0003g0235 a0001c0033t0003g0257 a0002c0015t0001g0179 others(21): Show |
24 | 202 | 0.1188 | 9 | c.470 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127306 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02647.hp2 others(1): Show |
a0002a0011a0021others(1): Show | a0002c0147a0011c0138a0021c0156others(1): Show | a0002c0147t0001a0011c0138t0001a0021c0156t0001others(1): Show | a0002c0147t0001g0135 a0011c0138t0001g0145 a0021c0156t0001g0026 others(1): Show |
4 | 253 | 0.0158 | 9 | c.279 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3177445 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0011others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(31): Show | a0001c0001t0001g0052 a0001c0001t0003g0234 a0001c0001t0003g0235 others(46): Show |
49 | 157 | 0.3121 | 9 | c.930 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3188461 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01081.hp2 others(29): Show |
a0002a0009a0015others(13): Show | a0002c0107a0002c0108a0002c0112others(25): Show | a0002c0107t0001a0002c0108t0001a0002c0112t0001others(25): Show | a0002c0107t0001g0034 a0002c0108t0001g0033 a0002c0112t0001g0153 others(29): Show |
32 | 324 | 0.0988 | 9 | c.771 others(24): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 4/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01433.hp2 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0065others(20): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(21): Show | a0001c0002t0001g0323 a0001c0002t0001g0383 a0001c0002t0003g0096 others(27): Show |
30 | 126 | 0.2381 | 9 | c.345 others(28): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2142762 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01346.hp1 HG01928.hp2 others(5): Show |
a0021a0041a0049others(3): Show | a0021c0043a0021c0066a0041c0212others(4): Show | a0021c0043t0001a0021c0066t0005a0041c0212t0001others(4): Show | a0021c0043t0001g0241 a0021c0043t0001g0382 a0021c0066t0005g0276 others(5): Show |
8 | 396 | 0.0202 | 9 | c.402 others(26): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119168683 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 a0001c0001t0007g0282 |
4 | 279 | 0.0143 | 9 | c.560 others(26): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150683500 | A | AAAAGAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(49): Show |
79 | 337 | 0.2344 | 9 | c.*66 others(20): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4133 | chr5 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69880951 | G | GGTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(73): Show |
76 | 81 | 0.9383 | 9 | c.556 others(24): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69962053 | C | CAACAACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(91): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0003a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(91): Show |
94 | 320 | 0.2938 | 9 | c.*35 others(20): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2957 | chr12 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 39917527 | G | GTGACTGT others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0001 | a0001c0001t0009g0160 a0001c0004t0001g0025 |
2 | 168 | 0.0119 | 9 | c.110 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39917731 | C | CCAGATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(89): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(89): Show |
92 | 168 | 0.5476 | 9 | c.110 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40000843 | C | CACTTGTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02615.hp2 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0009a0001c0004t0001a0002c0005t0004 | a0001c0001t0009g0160 a0001c0004t0001g0025 a0002c0005t0004g0168 others(2): Show |
5 | 168 | 0.0298 | 9 | c.111 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40061039 | T | TCTAAAAG others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | 168 | 0.0119 | 9 | c.332 others(28): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1792871 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG02135.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(25): Show | a0001c0001t0003g0011 a0001c0001t0008g0009 a0001c0002t0001g0046 others(32): Show |
35 | 70 | 0.5000 | 9 | c.327 others(26): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 23/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1858365 | A | ATCCGACT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0007g0031 a0001c0002t0001g0046 a0001c0002t0001g0060 others(27): Show |
30 | 102 | 0.2941 | 9 | c.271 others(28): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1957779 | T | TCCTCAGA others(2): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18945.hp2 NA19055.hp1 |
a0001 | a0001c0021a0001c0022a0001c0023 | a0001c0021t0002a0001c0022t0014a0001c0023t0002 | a0001c0021t0002g0028 a0001c0022t0014g0012 a0001c0023t0002g0055 |
3 | 102 | 0.0294 | 9 | c.153 others(28): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2134729 | C | CAGAACTG others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0009a0001c0003t0009a0001c0004t0011others(1): Show | a0001c0001t0009g0021 a0001c0003t0009g0096 a0001c0004t0011g0066 others(1): Show |
4 | 102 | 0.0392 | 9 | c.-30 others(30): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 3/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2185687 | G | GCCGGGCC others(2): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0011 | a0001c0002t0001g0072 a0001c0004t0011g0066 |
2 | 102 | 0.0196 | 9 | c.-42 others(30): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2186095 | A | AGGCCTTC others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0006 | a0001c0001t0001g0034 a0002c0010t0006g0013 |
2 | 102 | 0.0196 | 9 | c.-42 others(30): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57590867 | A | AAGGACCA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(161): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(159): Show |
164 | 350 | 0.4686 | 9 | c.-11 others(20): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1036 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57629971 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0240 a0001c0001t0007g0325 a0001c0001t0008g0328 others(3): Show |
6 | 194 | 0.0309 | 9 | c.678 others(24): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57654002 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0002 | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0265 others(4): Show |
7 | 34 | 0.2059 | 9 | c.112 others(28): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57688282 | A | AATATAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002 | a0001c0003t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0082 others(1): Show |
4 | 342 | 0.0117 | 9 | c.*37 others(20): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2919 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688339 | T | TTATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02809.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0002 | a0001c0001t0002g0313 a0001c0003t0002g0055 a0002c0002t0002g0059 others(2): Show |
5 | 314 | 0.0159 | 9 | c.*38 others(20): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2976 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688471 | T | TATTATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 NA18906.hp1 NA19030.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0004a0006c0006t0002 | a0001c0001t0004g0241 a0001c0001t0004g0244 a0006c0006t0002g0120 |
3 | 350 | 0.0086 | 9 | c.*39 others(20): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3108 | chr15 | TogoVar | |||||||
MZT2A_chr2_131478960_131497397 | 131492494 | G | GGGAGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(173): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(41): Show |
176 | 385 | 0.4571 | 9 | c.-11 others(18): Show |
MZT2A | ENSG00000173272.16 | transcript | ENST00000309451.7 | protein_coding | 98 | chr2 | TogoVar | |||||||
MZT2A_chr2_131478960_131497397 | 131494392 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(131): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(26): Show |
134 | 355 | 0.3775 | 9 | c.-20 others(20): Show |
MZT2A | ENSG00000173272.16 | transcript | ENST00000309451.7 | protein_coding | 1996 | chr2 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48552699 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02083.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0123 a0001c0001t0002g0129 others(4): Show |
8 | 69 | 0.1159 | 9 | c.202 others(26): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
N4BP2L2_chr13_32505292_32543795 | 32523580 | G | GCTACAGT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02280.hp2 others(21): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0006others(1): Show | a0002c0002t0009a0002c0002t0010a0002c0002t0013others(6): Show | a0002c0002t0009g0038 a0002c0002t0009g0269 a0002c0002t0009g0278 others(19): Show |
24 | 392 | 0.0612 | 9 | c.138 others(28): Show |
N4BP2L2 | ENSG00000244754.9 | transcript | ENST00000267068.6 | protein_coding | 3/5 | chr13 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40090952 | A | AAAAAGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(96): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0010others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(25): Show | a0001c0001t0002g0305 a0001c0001t0002g0311 a0001c0001t0002g0312 others(91): Show |
99 | 132 | 0.7500 | 9 | c.-11 others(28): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
N6AMT1_chr21_28867191_28890367 | 28877212 | A | AGAAAGGA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0028 | a0001c0001t0020g0085 a0001c0001t0020g0086 a0001c0001t0028g0093 |
3 | 420 | 0.0071 | 9 | c.539 others(24): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
N6AMT1_chr21_28867191_28890367 | 28877410 | G | GAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0028 | a0001c0001t0020g0085 a0001c0001t0020g0086 a0001c0001t0028g0093 |
3 | 134 | 0.0224 | 9 | c.538 others(24): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
NAA16_chr13_41306267_41382030 | 41379475 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0003g0126 a0001c0001t0006g0025 a0001c0001t0006g0026 others(6): Show |
9 | 243 | 0.0370 | 9 | c.*38 others(20): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 2446 | chr13 | TogoVar | |||||||
NAA35_chr9_85936146_86030462 | 85945591 | T | TCTCGGCT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01168.hp1 HG01884.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(6): Show | a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0029 others(34): Show |
38 | 286 | 0.1329 | 9 | c.124 others(26): Show |
NAA35 | ENSG00000135040.16 | transcript | ENST00000361671.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3462086 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0028a0001c0001t0031others(4): Show | a0001c0001t0008g0075 a0001c0001t0028g0301 a0001c0001t0031g0280 others(9): Show |
12 | 176 | 0.0682 | 9 | c.-7+ others(26): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3478064 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0004others(2): Show | a0001c0001t0003g0010 a0001c0001t0003g0045 a0001c0001t0003g0292 others(10): Show |
15 | 260 | 0.0577 | 9 | c.111 others(26): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3478088 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01515.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0014 | a0001c0002t0007g0014 a0001c0002t0007g0109 a0001c0002t0007g0110 others(14): Show |
18 | 374 | 0.0481 | 9 | c.111 others(26): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA80_chr3_50291402_50304405 | 50304274 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 296 | 0.0338 | 9 | c.-52 others(20): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4870 | chr3 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90144740 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(35): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0006a0002c0003others(3): Show | a0001c0002t0004a0001c0006t0001a0001c0006t0005others(8): Show | a0001c0002t0004g0306 a0001c0006t0001g0300 a0001c0006t0001g0301 others(33): Show |
38 | 183 | 0.2077 | 9 | c.195 others(26): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175120068 | G | GTATTTAG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01109.hp1 others(35): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0013a0002c0003others(16): Show | a0001c0001t0027a0001c0001t0033a0001c0013t0006others(35): Show | a0001c0001t0027g0030 a0001c0001t0033g0038 a0001c0013t0006g0021 others(35): Show |
38 | 64 | 0.5938 | 9 | c.545 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175148085 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02300.hp1 |
a0004a0006 | a0004c0008a0006c0009 | a0004c0008t0002a0006c0009t0010 | a0004c0008t0002g0062 a0006c0009t0010g0061 |
2 | 43 | 0.0465 | 9 | c.545 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175148091 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp2 |
a0003a0004 | a0003c0005a0004c0002 | a0003c0005t0005a0004c0002t0002 | a0003c0005t0005g0009 a0004c0002t0002g0048 |
2 | 36 | 0.0556 | 9 | c.545 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175160000 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01261.hp2 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0002a0003c0004t0012a0003c0005t0007others(1): Show | a0001c0001t0002g0012 a0003c0004t0012g0058 a0003c0005t0007g0019 others(1): Show |
4 | 42 | 0.0952 | 9 | c.545 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175330967 | T | TTACAACT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG03209.hp2 others(2): Show |
a0002a0004a0006 | a0002c0003a0004c0002a0004c0008others(1): Show | a0002c0003t0001a0004c0002t0008a0004c0008t0011others(2): Show | a0002c0003t0001g0060 a0004c0002t0008g0039 a0004c0008t0011g0036 others(2): Show |
5 | 64 | 0.0781 | 9 | c.109 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175356576 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02615.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0006a0002c0003t0005a0003c0004t0029others(3): Show | a0001c0001t0006g0026 a0002c0003t0005g0014 a0003c0004t0029g0022 others(3): Show |
6 | 26 | 0.2308 | 9 | c.109 others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175412891 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01884.hp1 others(11): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0013a0003c0005others(9): Show | a0001c0001t0007a0001c0013t0006a0003c0005t0005others(11): Show | a0001c0001t0007g0031 a0001c0013t0006g0021 a0003c0005t0005g0009 others(11): Show |
14 | 18 | 0.7778 | 9 | c.109 others(30): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |