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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MMP17_chr12_131823393_131856771 | 131827365 | G | GGGGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0012 | a0012c0025 | a0012c0025t0003 | a0012c0025t0003g0003 | 1 | 398 | 0.0025 | 47 | c.-11 others(58): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1027 | chr12 | TogoVar | ||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 414 | 0.0024 | 47 | c.226 others(64): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
MOG_chr6_29652092_29677365 | 29665737 | G | GTAAAGGT others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG02055.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0031a0003c0003t0009others(2): Show | a0001c0001t0005g0044a0001c0001t0005g0145a0001c0001t0031g0144others(8): Show | 14 | 439 | 0.0319 | 47 | c.437 others(62): Show |
MOG | ENSG00000204655.12 | transcript | ENST00000376917.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
MOG_chr6_29652092_29677365 | 29665737 | G | GTAATGGT others(40): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0018a0003c0003t0024 | a0003c0003t0018g0050a0003c0003t0018g0180a0003c0003t0018g0181others(1): Show | 5 | 439 | 0.0114 | 47 | c.437 others(62): Show |
MOG | ENSG00000204655.12 | transcript | ENST00000376917.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911201 | G | GATAGATA others(40): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0153a0001c0002t0001g0164a0002c0005t0001g0018 | 4 | 262 | 0.0153 | 47 | c.614 others(62): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911205 | G | GATAGATA others(40): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18982.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033a0001c0002t0001g0133a0001c0002t0001g0140 | 4 | 262 | 0.0153 | 47 | c.613 others(62): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911209 | G | GATAGATA others(40): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02155.hp2 HG02647.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0142a0001c0002t0001g0152a0001c0003t0001g0063 | 3 | 262 | 0.0115 | 47 | c.613 others(62): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MON1A_chr3_49903873_49934811 | 49911217 | G | GATAGATA others(40): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 | 1 | 262 | 0.0038 | 47 | c.613 others(62): Show |
MON1A | ENSG00000164077.15 | transcript | ENST00000296473.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
MPI_chr15_74885042_74907219 | 74894107 | T | TGGTGTGT others(40): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0149 | 1 | 422 | 0.0024 | 47 | c.670 others(62): Show |
MPI | ENSG00000178802.18 | transcript | ENST00000352410.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AGAAAGGG others(40): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03654.hp2 HG04228.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0016others(2): Show | a0001c0001t0001g0046a0001c0002t0002g0100a0001c0002t0002g0211others(3): Show | 6 | 250 | 0.0240 | 47 | c.225 others(64): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787914 | A | ATATATAC others(40): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0149 | 1 | 378 | 0.0027 | 47 | c.277 others(64): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRO_chr18_50790130_50825016 | 50804097 | T | TGTGCTTT others(40): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0237 | 1 | 430 | 0.0023 | 47 | c.429 others(64): Show |
MRO | ENSG00000134042.14 | transcript | ENST00000398439.8 | protein_coding | 5/7 | chr18 | TogoVar | ||||||
MRPL41_chr9_137546879_137557555 | 137551734 | A | AGCCCCGC others(40): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 408 | 0.0025 | 47 | c.-25 others(56): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 144 | chr9 | TogoVar | ||||||
MRPL45_chr17_38292168_38328211 | 38313307 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180 | 1 | 287 | 0.0035 | 47 | c.462 others(64): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
MRPS18C_chr4_83451058_83467298 | 83465299 | C | CAAAAAAA others(40): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 394 | 0.0025 | 47 | c.*41 others(58): Show |
MRPS18C | ENSG00000163319.11 | transcript | ENST00000295491.9 | protein_coding | 3002 | chr4 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692509 | C | CATGTATA others(40): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02602.hp1 HG03239.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0007a0004c0005t0007 | a0001c0001t0007g0223a0001c0001t0007g0224a0004c0005t0007g0275others(1): Show | 4 | 362 | 0.0111 | 47 | c.134 others(68): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767614 | T | TGGAGGAG others(40): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20129.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0273a0003c0004t0003g0291 | 2 | 388 | 0.0052 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767667 | T | TGGAGGAG others(40): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 388 | 0.0026 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767760 | A | AGGGGGGC others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0014 | a0014c0024 | a0014c0024t0002 | a0014c0024t0002g0029 | 1 | 388 | 0.0026 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767865 | G | GGGCGTGG others(40): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 388 | 0.0026 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767881 | G | GGGGGAGC others(40): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 388 | 0.0026 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767882 | A | AGGGGCGC others(40): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0085 | 2 | 388 | 0.0052 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767961 | G | GGGGGGTG others(40): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG03471.hp1 others(1): Show |
a0007a0013 | a0007c0012a0013c0019 | a0007c0012t0001a0013c0019t0001 | a0007c0012t0001g0246a0013c0019t0001g0006 | 4 | 388 | 0.0103 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767962 | A | AGGGGGGG others(40): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0344 | 1 | 388 | 0.0026 | 47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16186741 | T | TCCCTTCA others(40): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 330 | 0.0030 | 47 | c.-5+ others(62): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566819 | A | AAGGAAGG others(40): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364a0001c0001t0001g0385 | 2 | 428 | 0.0047 | 47 | c.32- others(60): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTFR1_chr8_65639734_65715562 | 65655951 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 348 | 0.0029 | 47 | c.-81 others(66): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTMR9_chr8_11279816_11333146 | 11330110 | G | GTCAGCCC others(40): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01168.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0023others(10): Show | a0001c0001t0004g0001a0001c0001t0004g0013a0001c0001t0004g0014others(34): Show | 51 | 348 | 0.1466 | 47 | c.*73 others(58): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1965 | chr8 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236908753 | C | CCCCAAAT others(40): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 372 | 0.0027 | 47 | c.*11 others(60): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 4773 | chr1 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17767700 | T | TAAGAAAA others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 |
a0010 | a0010c0030a0010c0046 | a0010c0030t0013a0010c0046t0001 | a0010c0030t0013g0180a0010c0046t0001g0179 | 2 | 330 | 0.0061 | 47 | c.-15 others(68): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195784727 | C | CCTGTGGA others(40): Show |
frameshift_variant | HIGH | NA18955.hp1 | a0064 | a0064c0195 | a0064c0195t0003 | a0064c0195t0003g0207 | 1 | 249 | 0.0040 | 47 | c.685 others(56): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6964/16756 | 6852/16239 | 2284/5412 | chr3 | TogoVar | ||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATAGATAG others(40): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01167.hp1 others(15): Show |
a0001a0007a0010others(3): Show | a0001c0001a0007c0006a0010c0012others(3): Show | a0001c0001t0001a0001c0001t0005a0007c0006t0001others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0072a0001c0001t0001g0073others(15): Show | 18 | 284 | 0.0634 | 47 | c.657 others(66): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3315373 | A | ATAGATGA others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp1 others(31): Show |
a0001a0003a0009others(4): Show | a0001c0001a0003c0003a0009c0007others(4): Show | a0001c0001t0001a0003c0003t0001a0009c0007t0001others(4): Show | a0001c0001t0001g0241a0001c0001t0001g0244a0001c0001t0001g0245others(28): Show | 34 | 284 | 0.1197 | 47 | c.657 others(66): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MYBL2_chr20_43662114_43721482 | 43672229 | C | CTGTACAC others(40): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(166): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(160): Show | 169 | 274 | 0.6168 | 47 | c.21- others(62): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYBL2_chr20_43662114_43721482 | 43672229 | C | CTGTACTC others(40): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 274 | 0.0037 | 47 | c.21- others(62): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101591801 | C | CTTCTTCT others(40): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 360 | 0.0028 | 47 | c.-32 others(58): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3169 | chr12 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38147052 | G | GGGGGGGG others(40): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 47 | c.*57 others(58): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 4031 | chr3 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663771 | C | CCCACCCA others(40): Show |
intron_variant | MODIFIER | HG01069.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0206 | 2 | 410 | 0.0049 | 47 | c.287 others(64): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770629 | C | CATAAATA others(40): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG02451.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0009a0001c0001t0005g0012a0001c0001t0006g0037 | 3 | 350 | 0.0086 | 47 | c.-28 others(58): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2766 | chr3 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770629 | C | CGTAAATA others(40): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 4 | 350 | 0.0114 | 47 | c.-28 others(58): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2766 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16679524 | G | GTTTTTTT others(40): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0018 | a0018c0027 | a0018c0027t0109 | a0018c0027t0109g0170 | 1 | 272 | 0.0037 | 47 | c.454 others(64): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 33/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109075381 | C | CTTGTGAC others(40): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(62): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0005a0001c0007others(34): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(45): Show | a0001c0002t0001g0043a0001c0002t0002g0002a0001c0002t0002g0008others(62): Show | 65 | 152 | 0.4276 | 47 | c.333 others(68): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO1G_chr7_44957662_44984015 | 44960926 | A | AGGGCTAA others(40): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0016 | a0011c0016t0003 | a0011c0016t0003g0118 | 1 | 378 | 0.0027 | 47 | c.*18 others(58): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1735 | chr7 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961609 | A | AGGCTGAG others(40): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0016 | a0011c0016t0003 | a0011c0016t0003g0118 | 1 | 378 | 0.0027 | 47 | c.*11 others(58): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1052 | chr7 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649142 | A | AATATATT others(40): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03017.hp1 HG03491.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0015a0004c0022 | a0001c0001t0001a0003c0015t0001a0004c0022t0005 | a0001c0001t0001g0065a0001c0001t0001g0066a0003c0015t0001g0022others(1): Show | 4 | 174 | 0.0230 | 47 | c.373 others(66): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO5C_chr15_52187322_52300804 | 52286210 | C | CGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0014 | a0014c0015 | a0014c0015t0016 | a0014c0015t0016g0039 | 1 | 360 | 0.0028 | 47 | c.28- others(62): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0008 | a0007c0008t0022 | a0007c0008t0022g0112 | 1 | 308 | 0.0033 | 47 | c.218 others(66): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478832 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01167.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0003t0001g0061others(15): Show | 18 | 240 | 0.0750 | 47 | c.88+ others(62): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18977.hp2 NA19003.hp1 others(2): Show |
a0001a0008a0026 | a0001c0002a0001c0003a0008c0031others(1): Show | a0001c0002t0001a0001c0003t0001a0008c0031t0001others(1): Show | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0003t0001g0034others(2): Show | 5 | 240 | 0.0208 | 47 | c.88+ others(62): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2040161 | T | TGGTGAGT others(40): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0109 | 1 | 403 | 0.0025 | 47 | c.-50 others(58): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 4884 | chr8 | TogoVar |