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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | 169 | 0.0118 | 37 | c.226 others(54): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 168 | 0.0060 | 37 | c.226 others(54): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 168 | 0.0060 | 37 | c.226 others(54): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 168 | 0.0060 | 37 | c.226 others(54): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
MORN3_chr12_121643742_121674654 | 121669813 | C | CATATATA others(30): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017 | 2 | 305 | 0.0066 | 37 | c.-33 others(46): Show |
MORN3 | ENSG00000139714.12 | transcript | ENST00000355329.7 | protein_coding | 160 | chr12 | TogoVar | |||||||
MPDZ_chr9_13100707_13284692 | 13136325 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0009 | a0009c0033 | a0009c0033t0003 | a0009c0033t0003g0137 | 1 | 114 | 0.0088 | 37 | c.429 others(54): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 30/46 | chr9 | TogoVar | |||||||
MPDZ_chr9_13100707_13284692 | 13279263 | A | ACCCCCAC others(30): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 229 | 0.0044 | 37 | c.-58 others(52): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 1/46 | chr9 | TogoVar | |||||||
MPEG1_chr11_59203510_59217927 | 59217919 | A | AGGAAGGA others(30): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(28): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 others(28): Show |
121 | 306 | 0.3954 | 37 | c.-50 others(48): Show |
MPEG1 | ENSG00000197629.6 | transcript | ENST00000361050.4 | protein_coding | 4993 | chr11 | TogoVar | |||||||
MPZ_chr1_161299735_161314968 | 161309552 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 85 | 0.0118 | 37 | c.67+ others(50): Show |
MPZ | ENSG00000158887.19 | transcript | ENST00000533357.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3216862 | C | CTCTTCTC others(30): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 287 | 0.0070 | 37 | c.*10 others(48): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1081 | chr11 | TogoVar | |||||||
MRI1_chr19_13759522_13779282 | 13767861 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 | 1 | 153 | 0.0065 | 37 | c.548 others(52): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144181294 | C | CCCGGTGA others(30): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002a0004 | a0002c0008a0004c0025 | a0002c0008t0001a0004c0025t0001 | a0002c0008t0001g0020 a0002c0008t0001g0036 a0002c0008t0001g0038 others(2): Show |
5 | 137 | 0.0365 | 37 | c.562 others(52): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233787819 | A | ACATATAT others(30): Show |
intron_variant | MODIFIER | HG02683.hp2 HG04115.hp1 NA18967.hp2 |
a0001a0005a0007 | a0001c0001a0005c0024a0007c0009 | a0001c0001t0001a0005c0024t0001a0007c0009t0001 | a0001c0001t0001g0268 a0005c0024t0001g0247 a0007c0009t0001g0194 |
3 | 151 | 0.0199 | 37 | c.277 others(54): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(30): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 110 | 0.0091 | 37 | c.48+ others(52): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(30): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 110 | 0.0091 | 37 | c.48+ others(52): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767806 | C | CGCGTGGA others(30): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0044 | 1 | 369 | 0.0027 | 37 | c.159 others(54): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(30): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 77 | 0.0130 | 37 | c.-10 others(48): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | |||||||
MTA3_chr2_42563632_42761946 | 42621826 | C | CGGGCAGA others(30): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0014 | a0001c0001t0002g0012 a0001c0001t0002g0281 a0001c0001t0009g0279 others(2): Show |
5 | 310 | 0.0161 | 37 | c.317 others(56): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42719471 | T | TTACTTAT others(30): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 | 1 | 310 | 0.0032 | 37 | c.161 others(54): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTCH2_chr11_47612317_47647559 | 47633526 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 328 | 0.0030 | 37 | c.369 others(54): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
MTCH2_chr11_47612317_47647559 | 47633527 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 291 | 0.0034 | 37 | c.369 others(54): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 177 | 0.0056 | 37 | c.104 others(56): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697150 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0011 | a0005c0011t0070 | a0005c0011t0070g0019 | 1 | 116 | 0.0086 | 37 | c.104 others(56): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250620 | G | GAAAAGAA others(30): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 203 | 0.0049 | 37 | c.677 others(52): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250694 | A | AGGAGGAG others(30): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 127 | 0.0079 | 37 | c.677 others(52): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTFP1_chr22_30420768_30434054 | 30432812 | C | CTCAGGGA others(30): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 442 | 0.0023 | 37 | c.*42 others(48): Show |
MTFP1 | ENSG00000242114.6 | transcript | ENST00000266263.10 | protein_coding | 3759 | chr22 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655951 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 215 | 0.0047 | 37 | c.-81 others(56): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(30): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 170 | 0.0059 | 37 | c.-81 others(56): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
MTHFD1_chr14_64383353_64465025 | 64430434 | G | GATTACAG others(30): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0013 a0003c0003t0002g0112 a0003c0003t0002g0126 others(1): Show |
4 | 340 | 0.0118 | 37 | c.131 others(54): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150583219 | A | ATTATATA others(30): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 275 | 0.0036 | 37 | c.-10 others(54): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(30): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0003 | a0002c0003t0040 | a0002c0003t0040g0069 | 1 | 238 | 0.0042 | 37 | c.371 others(54): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17767700 | T | TAAGAAAA others(30): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03041.hp1 |
a0006 | a0006c0019 | a0006c0019t0002a0006c0019t0013 | a0006c0019t0002g0039 a0006c0019t0013g0187 |
2 | 205 | 0.0098 | 37 | c.-15 others(58): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29170116 | A | AAAGACCC others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 others(78): Show |
81 | 90 | 0.9000 | 37 | c.264 others(58): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110755939 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 323 | 0.0031 | 37 | c.914 others(54): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350426 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 334 | 0.0030 | 37 | c.*31 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2264 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350481 | G | GGGGCAGG others(30): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 2 | 335 | 0.0060 | 37 | c.*31 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2209 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350521 | G | GGGGCAGG others(30): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 332 | 0.0030 | 37 | c.*30 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2169 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350546 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 336 | 0.0030 | 37 | c.*30 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2144 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350626 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0052 | 1 | 336 | 0.0030 | 37 | c.*29 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2064 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350666 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0024 | 1 | 336 | 0.0030 | 37 | c.*29 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2024 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350706 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 336 | 0.0030 | 37 | c.*28 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1984 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350746 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0012 | a0002c0003t0004g0005 a0002c0003t0012g0025 |
2 | 336 | 0.0060 | 37 | c.*28 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1944 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350786 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02559.hp1 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0012 | a0002c0003t0004g0005 a0002c0003t0012g0025 |
2 | 333 | 0.0060 | 37 | c.*28 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1904 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350786 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 332 | 0.0030 | 37 | c.*28 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1904 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350826 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0052 | 1 | 336 | 0.0030 | 37 | c.*27 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1864 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350866 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 336 | 0.0030 | 37 | c.*27 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1824 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351426 | G | GGAGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG03041.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0009 a0001c0001t0005g0018 a0001c0001t0008g0026 others(4): Show |
12 | 323 | 0.0372 | 37 | c.*21 others(48): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1264 | chr1 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53870355 | C | CGAGGGAG others(30): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 330 | 0.0030 | 37 | c.-3+ others(50): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591770 | C | CTCTTCTT others(30): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 NA19043.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0002a0002c0002t0001 | a0001c0005t0002g0001 a0002c0002t0001g0016 |
2 | 351 | 0.0057 | 37 | c.-33 others(48): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3200 | chr12 | TogoVar | |||||||
MYBPC2_chr19_50427892_50471321 | 50434981 | T | TTGGGTCT others(30): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02257.hp2 HG02723.hp1 |
a0001a0003a0022 | a0001c0002a0003c0004a0022c0032 | a0001c0002t0001a0003c0004t0001a0022c0032t0001 | a0001c0002t0001g0019 a0003c0004t0001g0214 a0022c0032t0001g0204 |
3 | 320 | 0.0094 | 37 | c.20- others(49): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |