regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MON2_chr12_62461826_62605476 | 62534542 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0310 | 1 | 368 | 0.0027 | 51 | c.163 others(68): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | chr12 | TogoVar | ||||||
MON2_chr12_62461826_62605476 | 62534549 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0072 | 1 | 368 | 0.0027 | 51 | c.163 others(68): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MON2_chr12_62461826_62605476 | 62534549 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00639.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0078a0001c0003t0005g0080 | 2 | 368 | 0.0054 | 51 | c.163 others(68): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MON2_chr12_62461826_62605476 | 62534551 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055a0001c0003t0002g0071a0001c0003t0002g0082others(2): Show | 5 | 368 | 0.0136 | 51 | c.163 others(68): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2331983 | C | CCTGCGCC others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 80 | 0.0125 | 51 | c.125 others(70): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
MPI_chr15_74885042_74907219 | 74894107 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 422 | 0.0024 | 51 | c.670 others(66): Show |
MPI | ENSG00000178802.18 | transcript | ENST00000352410.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432589 | G | GGGAGGAG others(44): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0241 | 1 | 250 | 0.0040 | 51 | c.225 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432756 | A | AGAGAGAT others(44): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 250 | 0.0040 | 51 | c.225 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432775 | A | AGAGAGAG others(44): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0111 | 1 | 250 | 0.0040 | 51 | c.225 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43495763 | G | GGTGGAGG others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 250 | 0.0040 | 51 | c.633 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43495857 | G | GTGGAGAT others(44): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19000.hp2 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0146a0001c0001t0001g0154others(1): Show | 4 | 250 | 0.0160 | 51 | c.633 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43496121 | G | GTGGTGGT others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0115others(35): Show | 38 | 250 | 0.1520 | 51 | c.633 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43499704 | A | ATGATGGT others(44): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0119a0001c0001t0001g0135others(13): Show | 16 | 250 | 0.0640 | 51 | c.748 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500182 | T | TGGTGATG others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03209.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008a0001c0003t0010 | a0001c0003t0002g0168a0001c0003t0008g0037a0001c0003t0008g0194others(1): Show | 4 | 250 | 0.0160 | 51 | c.748 others(68): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MRGPRG_chr11_3212944_3223813 | 3216168 | T | TCTGAGCC others(44): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01074.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0000a0004c0004t0000 | a0001c0001t0000g0000a0004c0004t0000g0000 | 14 | 426 | 0.0329 | 51 | c.*17 others(62): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1775 | chr11 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216225 | C | CCCCCCAG others(44): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 426 | 0.0047 | 51 | c.*17 others(62): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1718 | chr11 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216895 | G | GCTTTCTT others(44): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0000 | 1 | 426 | 0.0024 | 51 | c.*10 others(62): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1048 | chr11 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218681 | C | CCCTCCCC others(44): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 140 | 0.0071 | 51 | c.114 others(70): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787914 | A | ATATATAC others(44): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0124 | a0124c0060 | a0124c0060t0001 | a0124c0060t0001g0015 | 1 | 378 | 0.0027 | 51 | c.277 others(68): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(44): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0274 | 1 | 390 | 0.0026 | 51 | c.261 others(68): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767761 | G | GGGGGCAC others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01192.hp1 HG01256.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018a0002c0002t0002g0326a0002c0002t0002g0327 | 4 | 388 | 0.0103 | 51 | c.159 others(68): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767850 | A | AGGGGGGC others(44): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02109.hp2 HG02559.hp2 others(4): Show |
a0003a0018 | a0003c0004a0018c0027 | a0003c0004t0003a0018c0027t0003 | a0003c0004t0003g0015a0003c0004t0003g0016a0003c0004t0003g0272others(3): Show | 7 | 388 | 0.0180 | 51 | c.159 others(68): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767988 | G | GGGGGCAC others(44): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0338 | 1 | 388 | 0.0026 | 51 | c.159 others(68): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189612 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0054 | 1 | 330 | 0.0030 | 51 | c.-5+ others(66): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0251 | 1 | 370 | 0.0027 | 51 | c.104 others(70): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTERF3_chr8_96234402_96266610 | 96250696 | G | GGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02976.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0075 | 3 | 294 | 0.0102 | 51 | c.677 others(66): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0234a0001c0001t0001g0289others(2): Show | 5 | 348 | 0.0144 | 51 | c.-81 others(70): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 348 | 0.0029 | 51 | c.-81 others(70): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 348 | 0.0029 | 51 | c.-81 others(70): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(44): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 348 | 0.0029 | 51 | c.-81 others(70): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994089 | G | GAAAGAAA others(44): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 226 | 0.0044 | 51 | c.212 others(72): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFS_chr15_79838547_79902014 | 79839494 | C | CTTTACTT others(44): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0215 | 1 | 394 | 0.0025 | 51 | c.*57 others(62): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 4052 | chr15 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767585 | T | TCACCACC others(44): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0087 | a0087c0184 | a0087c0184t0003 | a0087c0184t0003g0215 | 1 | 249 | 0.0040 | 51 | c.135 others(70): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATAAATAG others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0014 | a0014c0015 | a0014c0015t0006 | a0014c0015t0006g0172 | 1 | 284 | 0.0035 | 51 | c.657 others(70): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATAGATAG others(44): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(52): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0038a0003c0003others(9): Show | a0001c0001t0001a0001c0038t0001a0003c0003t0001others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0015others(51): Show | 55 | 284 | 0.1937 | 51 | c.657 others(70): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1361878 | T | TCCAGTCA others(44): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 51 | c.-33 others(62): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 3324 | chr1 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663465 | C | CTCCACCC others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 410 | 0.0024 | 51 | c.287 others(68): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663639 | C | CCCCACCC others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 410 | 0.0024 | 51 | c.287 others(68): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4670512 | T | TGCCGAGG others(44): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 51 | c.-17 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 171 | chr19 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607726 | T | TATATATT others(44): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0009 | a0006c0009t0049 | a0006c0009t0049g0129 | 1 | 156 | 0.0064 | 51 | c.*63 others(62): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2322 | chr3 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282897 | G | GGGGGGAG others(44): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0020 | 1 | 226 | 0.0044 | 51 | c.4-1 others(66): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282897 | G | GGGGGGAG others(44): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0032a0001c0011t0031 | a0001c0002t0032g0011a0001c0011t0031g0012 | 2 | 226 | 0.0089 | 51 | c.4-1 others(66): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282911 | A | AGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0129 | 1 | 226 | 0.0044 | 51 | c.4-1 others(66): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(44): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0186 | 1 | 226 | 0.0044 | 51 | c.4-1 others(66): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543681 | G | GTGGTGGT others(44): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0157 | 1 | 342 | 0.0029 | 51 | c.152 others(68): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77193031 | T | TTGGTGAC others(44): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0114 | a0008c0114t0001 | a0008c0114t0001g0273 | 1 | 356 | 0.0028 | 51 | c.415 others(68): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77193031 | T | TTGGTGAT others(44): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0014 | 2 | 356 | 0.0056 | 51 | c.415 others(68): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77193477 | A | ATGATGGT others(44): Show |
intron_variant | MODIFIER | HG01257.hp1 HG04115.hp2 |
a0004 | a0004c0037 | a0004c0037t0001 | a0004c0037t0001g0010 | 2 | 356 | 0.0056 | 51 | c.415 others(68): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AAAGAAAG others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01256.hp1 others(11): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0035a0001c0051others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0035t0001others(8): Show | a0001c0001t0001g0056a0001c0001t0005g0013a0001c0035t0001g0054others(11): Show | 14 | 240 | 0.0583 | 51 | c.88+ others(66): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAGAAAG others(44): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0093 | 1 | 240 | 0.0042 | 51 | c.88+ others(66): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar |