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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGAT4C_chr12_85950667_86261391 | 86110296 | C | CTATATAT others(92): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0142 | 1 | 111 | 0.0090 | 99 | c.-56 others(118): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876697 | G | GGGTTATG others(92): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 266 | 0.0038 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876712 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0012 | a0012c0028 | a0012c0028t0003 | a0012c0028t0003g0234 | 1 | 270 | 0.0037 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876824 | G | GGTTATGG others(92): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03492.hp2 HG04204.hp2 |
a0002a0027 | a0002c0003a0027c0068 | a0002c0003t0001a0002c0003t0002a0027c0068t0002 | a0002c0003t0001g0067 a0002c0003t0002g0217 a0027c0068t0002g0064 |
3 | 254 | 0.0118 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876824 | G | GGTTATGG others(92): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0071 | 1 | 252 | 0.0040 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0137 | 1 | 181 | 0.0055 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876935 | T | TAGGGAGG others(92): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01884.hp2 |
a0001a0018 | a0001c0001a0018c0049 | a0001c0001t0004a0018c0049t0001 | a0001c0001t0004g0117 a0018c0049t0001g0089 |
2 | 226 | 0.0088 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876937 | G | GGGAAGTT others(92): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0262 | 1 | 210 | 0.0048 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876944 | T | TAGGGAAG others(92): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0033 | a0033c0036 | a0033c0036t0002 | a0033c0036t0002g0202 | 1 | 251 | 0.0040 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTG others(92): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0003 | 1 | 175 | 0.0057 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876991 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 175 | 0.0057 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877103 | G | GGTTATGG others(92): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0217 | 1 | 257 | 0.0039 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877198 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0024 | a0024c0039 | a0024c0039t0002 | a0024c0039t0002g0023 | 1 | 223 | 0.0045 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877207 | T | TGGAGGTT others(92): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0046 | a0001c0046t0018 | a0001c0046t0018g0174 | 1 | 165 | 0.0061 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877212 | G | GTTAGGGA others(92): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 266 | 0.0038 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877243 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0004 | a0004c0007 | a0004c0007t0026 | a0004c0007t0026g0132 | 1 | 213 | 0.0047 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877252 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0008 | a0008c0066 | a0008c0066t0002 | a0008c0066t0002g0106 | 1 | 179 | 0.0056 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877313 | T | TAGGGAGG others(92): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 |
a0002a0021 | a0002c0003a0021c0053 | a0002c0003t0004a0021c0053t0005 | a0002c0003t0004g0080 a0021c0053t0005g0079 |
2 | 265 | 0.0075 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(92): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01069.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0045a0001c0046others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0045t0001others(7): Show | a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0255 others(11): Show |
14 | 172 | 0.0814 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877385 | T | TAGGGAAG others(92): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0070 | 1 | 268 | 0.0037 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877439 | G | GAGGGAGG others(92): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001 | a0001c0001t0010g0152 a0001c0002t0001g0120 |
2 | 217 | 0.0092 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877558 | T | TGGAGGTT others(92): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 216 | 0.0046 | 99 | c.224 others(118): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MIGA1_chr1_77774649_77884540 | 77871125 | G | GGGAGAGG others(92): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0263 | 1 | 39 | 0.0256 | 99 | c.146 others(118): Show |
MIGA1 | ENSG00000180488.17 | transcript | ENST00000370791.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438393 | G | GTGTGGGT others(92): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0235 | 1 | 388 | 0.0026 | 99 | c.-51 others(116): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237542990 | G | GGGGACAG others(92): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0013 | a0013c0017 | a0013c0017t0010 | a0013c0017t0010g0250 | 1 | 270 | 0.0037 | 99 | c.153 others(116): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543409 | G | GGACAGTG others(92): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 264 | 0.0038 | 99 | c.153 others(116): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43496689 | T | TGGTGGTG others(92): Show |
intron_variant | MODIFIER | HG01943.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0038 a0001c0001t0029g0222 |
2 | 233 | 0.0086 | 99 | c.633 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496879 | G | GGTGGTGG others(92): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 229 | 0.0044 | 99 | c.633 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500182 | T | TGGTGGTG others(92): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0024 a0001c0001t0002g0175 a0001c0002t0002g0212 |
3 | 240 | 0.0125 | 99 | c.748 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537219 | A | ACCCCGTC others(92): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0079 others(120): Show |
123 | 232 | 0.5302 | 99 | c.241 others(118): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537219 | A | ACCCCGTC others(92): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0012t0001 | a0001c0002t0001g0011 a0001c0003t0001g0007 a0001c0003t0001g0008 others(8): Show |
11 | 120 | 0.0917 | 99 | c.241 others(118): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767852 | G | GGGGGCGC others(92): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 357 | 0.0028 | 99 | c.159 others(116): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767988 | G | GAGGGGCG others(92): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0256 | 1 | 224 | 0.0045 | 99 | c.159 others(116): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(92): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0052 | 1 | 167 | 0.0060 | 99 | c.212 others(120): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(92): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058 a0001c0002t0001g0053 |
2 | 168 | 0.0119 | 99 | c.212 others(120): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(92): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02055.hp1 NA19091.hp1 |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0003a0001c0002t0003a0008c0013t0001 | a0001c0001t0003g0188 a0001c0002t0003g0109 a0008c0013t0001g0084 |
3 | 169 | 0.0178 | 99 | c.212 others(120): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(92): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02602.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0004 a0001c0002t0004g0016 a0001c0002t0004g0064 |
3 | 169 | 0.0178 | 99 | c.212 others(120): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186547093 | C | CACACCAC others(92): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01258.hp2 NA18997.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0177 a0001c0001t0001g0180 others(2): Show |
6 | 96 | 0.0625 | 99 | c.184 others(116): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717411 | T | TCTTGAAC others(92): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0003t0004a0002c0002t0003others(1): Show | a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0003t0004g0281 others(2): Show |
5 | 237 | 0.0211 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717411 | T | TCTTGAAC others(92): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0002a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0003t0002g0157 a0001c0004t0001g0159 a0001c0006t0001g0080 others(2): Show |
5 | 237 | 0.0211 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717411 | T | TCTTGAAC others(92): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01169.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0147 others(14): Show |
17 | 249 | 0.0683 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717411 | T | TCTTGAAC others(92): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG03225.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0001g0120 others(10): Show |
13 | 245 | 0.0531 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717434 | G | GGCAGTGA others(92): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 95 | 0.0105 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124717439 | C | CGAGCCAA others(92): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 84 | 0.0119 | 99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195782364 | C | CGGCGTGG others(92): Show |
disruptive_inframe_insertion | MODERATE | HG03209.hp2 | a0088 | a0088c0111 | a0088c0111t0002 | a0088c0111t0002g0010 | 1 | 126 | 0.0079 | 99 | c.921 others(108): Show |
p.Pro others(114): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9327/16756 | 9215/16239 | 3072/5412 | chr3 | TogoVar | |||
MYBPC1_chr12_101589971_101691028 | 101591785 | T | TTTTCTTC others(92): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0338 | 1 | 352 | 0.0028 | 99 | c.-32 others(110): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3185 | chr12 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2138950 | T | TCCGACAC others(92): 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 | 89 | 0.0899 | 99 | c.380 others(118): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139385283 | A | AATATATA others(92): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 218 | 0.0046 | 99 | c.230 others(116): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139385289 | T | TATATATA others(92): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0308 | 1 | 332 | 0.0030 | 99 | c.230 others(116): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90187313 | C | CACATTTT others(92): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0319 | 1 | 362 | 0.0028 | 99 | c.203 others(118): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |