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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MON1A_chr3_49903873_49934811 | 49911205 | G | GATAGATA others(36): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01175.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0005 | a0001c0002t0001a0001c0006t0001a0002c0005t0001 | a0001c0002t0001g0032a0001c0002t0001g0155a0001c0006t0001g0091others(1): Show | 5 | 262 | 0.0191 | 43 | c.613 others(58): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911209 | G | GATAGATA others(36): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03490.hp1 HG03927.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0037a0001c0002t0001g0138others(2): Show | 7 | 262 | 0.0267 | 43 | c.613 others(58): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911217 | G | GATAGATA others(36): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 262 | 0.0038 | 43 | c.613 others(58): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MORC1_chr3_108953248_109123134 | 109040403 | A | AAAGAAAG others(36): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 294 | 0.0034 | 43 | c.133 others(62): Show |
MORC1 | ENSG00000114487.10 | transcript | ENST00000232603.10 | protein_coding | 14/27 | chr3 | TogoVar | ||||||
MPDZ_chr9_13100707_13284692 | 13136325 | C | CTTTTTTT others(36): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0116 | 1 | 302 | 0.0033 | 43 | c.429 others(60): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 30/46 | chr9 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AGAAAGGG others(36): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG01361.hp1 others(9): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0096a0001c0002t0001g0104others(9): Show | 12 | 250 | 0.0480 | 43 | c.225 others(60): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPZ_chr1_161299735_161314968 | 161309552 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 444 | 0.0023 | 43 | c.67+ others(56): Show |
MPZ | ENSG00000158887.19 | transcript | ENST00000533357.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
MPZ_chr1_161299735_161314968 | 161309552 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 444 | 0.0045 | 43 | c.67+ others(56): Show |
MPZ | ENSG00000158887.19 | transcript | ENST00000533357.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3216895 | G | GCTTTCTT others(36): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03139.hp1 NA18906.hp2 |
a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0000 | 3 | 426 | 0.0070 | 43 | c.*10 others(54): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1048 | chr11 | TogoVar | ||||||
MRM3_chr17_777353_797509 | 790546 | A | ACCCGCTG others(36): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG01243.hp1 others(14): Show |
a0001a0004a0009 | a0001c0010a0004c0004a0009c0014 | a0001c0010t0001a0004c0004t0002a0009c0014t0001 | a0001c0010t0001g0042a0004c0004t0002g0012a0004c0004t0002g0023others(5): Show | 17 | 440 | 0.0386 | 43 | c.728 others(58): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRM3_chr17_777353_797509 | 795597 | T | TTAGCCCC others(36): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 440 | 0.0023 | 43 | c.*35 others(54): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3089 | chr17 | TogoVar | ||||||
MROH9_chr1_170930534_171069765 | 170933538 | A | AAAGAAAG others(36): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01256.hp2 |
a0002a0003 | a0002c0002a0003c0027 | a0002c0002t0001a0003c0027t0001 | a0002c0002t0001g0149a0003c0027t0001g0148 | 2 | 226 | 0.0089 | 43 | c.-20 others(54): Show |
MROH9 | ENSG00000117501.15 | transcript | ENST00000367759.9 | protein_coding | 1995 | chr1 | TogoVar | ||||||
MRO_chr18_50790130_50825016 | 50795335 | T | TTTTATAA others(36): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0004 | a0004c0009 | a0004c0009t0055 | a0004c0009t0055g0208 | 1 | 430 | 0.0023 | 43 | c.*39 others(54): Show |
MRO | ENSG00000134042.14 | transcript | ENST00000398439.8 | protein_coding | 8/8 | 4001 | chr18 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 362821 | C | CCTGGGCG others(36): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01256.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0112a0001c0002t0001g0001a0001c0002t0001g0098others(1): Show | 8 | 394 | 0.0203 | 43 | c.*48 others(54): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 4147 | chr16 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 362821 | C | CCTGGGTG others(36): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(9): Show | 14 | 394 | 0.0355 | 43 | c.*48 others(54): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 4147 | chr16 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 362973 | C | CGCGGCTG others(36): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 394 | 0.0025 | 43 | c.*47 others(54): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 3995 | chr16 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 362975 | C | CGGCTGCT others(36): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 394 | 0.0025 | 43 | c.*46 others(54): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 3993 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767502 | G | GGGGGGGC others(36): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0278 | 1 | 388 | 0.0026 | 43 | c.159 others(58): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767711 | G | GGGCGCAT others(36): Show |
intron_variant | MODIFIER | HG01256.hp2 NA18971.hp1 |
a0001a0012 | a0001c0001a0012c0018 | a0001c0001t0001a0012c0018t0001 | a0001c0001t0001g0110a0012c0018t0001g0078 | 2 | 388 | 0.0052 | 43 | c.159 others(60): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65396700 | A | AAGAAAGA others(36): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0300 | 1 | 312 | 0.0032 | 43 | c.292 others(62): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566819 | A | AAGAAGGA others(36): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0387 | 1 | 428 | 0.0023 | 43 | c.32- others(56): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42613063 | T | TTGTTGTT others(36): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 312 | 0.0032 | 43 | c.317 others(60): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(36): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03098.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087 | 3 | 348 | 0.0086 | 43 | c.-81 others(62): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTIF3_chr13_27430643_27455564 | 27449604 | A | ACTGAGCT others(36): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 414 | 0.0024 | 43 | c.-71 others(58): Show |
MTIF3 | ENSG00000122033.15 | transcript | ENST00000381120.8 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29375570 | T | TAATATAT others(36): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 92 | 0.0109 | 43 | c.311 others(64): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195776280 | C | CCATACCT others(36): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0064 | a0064c0195 | a0064c0195t0003 | a0064c0195t0003g0207 | 1 | 249 | 0.0040 | 43 | c.129 others(64): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(36): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 326 | 0.0031 | 43 | c.628 others(60): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0310 | 1 | 372 | 0.0027 | 43 | c.274 others(60): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATAGATGA others(36): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02922.hp2 HG03139.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0034 | a0001c0001t0001a0003c0003t0001a0003c0034t0001 | a0001c0001t0001g0070a0001c0001t0001g0071a0003c0003t0001g0207others(5): Show | 8 | 284 | 0.0282 | 43 | c.657 others(62): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATGAAATA others(36): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01256.hp1 HG01891.hp1 others(10): Show |
a0001a0003a0014 | a0001c0001a0003c0003a0003c0014others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0014t0001others(1): Show | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0169others(9): Show | 13 | 284 | 0.0458 | 43 | c.657 others(62): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663176 | C | CACAGCCT others(36): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0213a0001c0006t0001g0146 | 2 | 410 | 0.0049 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663221 | C | CACAGCCT others(36): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 410 | 0.0024 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663370 | T | TCTCCCCA others(36): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 410 | 0.0024 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663519 | A | ATCCTCAT others(36): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 410 | 0.0024 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663531 | C | CACAGCCT others(36): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0224 | 2 | 410 | 0.0049 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663565 | C | CCCTCATT others(36): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0004 | a0001c0001t0001g0155a0002c0002t0003g0077a0002c0002t0003g0091others(2): Show | 5 | 410 | 0.0122 | 43 | c.287 others(60): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36384609 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0223 | 1 | 242 | 0.0041 | 43 | c.-20 others(60): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770567 | C | CGTAAATA others(36): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0002g0042a0001c0001t0014g0040a0001c0001t0016g0015others(1): Show | 4 | 350 | 0.0114 | 43 | c.-29 others(54): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2828 | chr3 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282916 | G | GGGAGGGG others(36): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0027a0001c0004t0019 | a0001c0001t0001g0030a0001c0003t0027g0007a0001c0004t0019g0064 | 3 | 226 | 0.0133 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282927 | G | GGGAGGGG others(36): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0035 | a0001c0001t0001g0069a0001c0002t0003g0085a0001c0002t0035g0111 | 3 | 226 | 0.0133 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(36): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19062.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005 | a0001c0002t0004g0205a0001c0002t0005g0076 | 2 | 226 | 0.0089 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(36): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0083 | 1 | 226 | 0.0044 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(36): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18946.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0007t0042 | a0001c0001t0001g0216a0001c0001t0004g0051a0001c0007t0042g0089 | 3 | 226 | 0.0133 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGAGGGGG others(36): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 226 | 0.0044 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282928 | G | GGGAGGGG others(36): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0214 | 1 | 226 | 0.0044 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59282955 | G | GGGGGAGG others(36): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 226 | 0.0044 | 43 | c.4-1 others(58): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77210223 | A | AGGGGGGA others(36): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 356 | 0.0028 | 43 | c.605 others(60): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 44/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AAAGAAAG others(36): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01496.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0076others(13): Show | 16 | 240 | 0.0667 | 43 | c.88+ others(58): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAGAAAG others(36): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02897.hp1 HG02976.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0002t0001g0002others(4): Show | 7 | 240 | 0.0292 | 43 | c.88+ others(58): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119134256 | A | AGATAGAT others(36): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0252 | 1 | 394 | 0.0025 | 43 | c.-17 others(54): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1575 | chr4 | TogoVar |