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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYLK_chr3_123605049_123889332 | 123884356 | A | AGGGCGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 NA20300.hp2 |
a0001a0007 | a0001c0001a0007c0080 | a0001c0001t0036a0007c0080t0008 | a0001c0001t0036g0076a0007c0080t0008g0077 | 2 | 156 | 0.0128 | 20 | c.-33 others(29): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 25 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16679524 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0023 | a0008c0023t0032 | a0008c0023t0032g0243 | 1 | 272 | 0.0037 | 20 | c.454 others(37): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 33/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16777839 | C | CCTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0003 | 1 | 272 | 0.0037 | 20 | c.930 others(37): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 9/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16796442 | C | CAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0038 | a0001c0038t0025 | a0001c0038t0025g0034 | 1 | 272 | 0.0037 | 20 | c.280 others(37): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16823468 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0042 | a0001c0001t0042a0001c0042t0153 | a0001c0001t0042g0003a0001c0042t0153g0261 | 2 | 272 | 0.0074 | 20 | c.121 others(37): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16830679 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(110): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0015others(36): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(100): Show | a0001c0001t0001g0071a0001c0001t0001g0105a0001c0001t0001g0108others(110): Show | 113 | 272 | 0.4154 | 20 | c.121 others(39): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16848155 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0022a0002c0002others(3): Show | a0001c0001t0078a0001c0001t0100a0001c0022t0046others(6): Show | a0001c0001t0078g0075a0001c0001t0100g0155a0001c0022t0046g0242others(6): Show | 9 | 272 | 0.0331 | 20 | c.120 others(39): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16860760 | G | GTGGAGGG others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02280.hp2 others(5): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0034a0001c0043others(4): Show | a0001c0001t0018a0001c0001t0020a0001c0034t0036others(5): Show | a0001c0001t0018g0244a0001c0001t0020g0215a0001c0034t0036g0013others(5): Show | 8 | 272 | 0.0294 | 20 | c.120 others(39): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16936304 | C | CGCCCCGC others(13): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01361.hp1 HG01981.hp2 others(12): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0015a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0108a0001c0001t0114others(12): Show | a0001c0001t0001g0108a0001c0001t0108g0088a0001c0001t0114g0038others(12): Show | 15 | 272 | 0.0552 | 20 | c.-49 others(29): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 17 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16936342 | C | CCGGCCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0061 | a0004c0061t0036 | a0004c0061t0036g0035 | 1 | 272 | 0.0037 | 20 | c.-53 others(29): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 55 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108677335 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0041 | 1 | 152 | 0.0066 | 20 | c.292 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108805925 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01978.hp1 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0010a0002c0001others(11): Show | a0001c0002t0021a0001c0010t0001a0002c0001t0002others(11): Show | a0001c0002t0021g0032a0001c0010t0001g0129a0001c0010t0001g0130others(14): Show | 17 | 152 | 0.1118 | 20 | c.742 others(35): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0013 | a0010c0012t0013g0013 | 1 | 152 | 0.0066 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG02895.hp2 others(2): Show |
a0002a0003a0005others(1): Show | a0002c0001a0003c0004a0003c0019others(2): Show | a0002c0001t0002a0003c0004t0002a0003c0019t0002others(2): Show | a0002c0001t0002g0131a0003c0004t0002g0098a0003c0019t0002g0099others(2): Show | 5 | 152 | 0.0329 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 NA19057.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0004a0002c0001t0002 | a0001c0002t0004g0048a0002c0001t0002g0005a0002c0001t0002g0143 | 3 | 152 | 0.0197 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18950.hp1 NA18969.hp2 |
a0002a0015a0025 | a0002c0001a0015c0011a0025c0043 | a0002c0001t0001a0015c0011t0001a0025c0043t0005 | a0002c0001t0001g0096a0015c0011t0001g0104a0025c0043t0005g0078 | 3 | 152 | 0.0197 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0144 | 1 | 152 | 0.0066 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02523.hp1 HG02647.hp1 others(1): Show |
a0001a0003a0004 | a0001c0002a0001c0005a0003c0044others(1): Show | a0001c0002t0002a0001c0005t0001a0003c0044t0002others(1): Show | a0001c0002t0002g0090a0001c0005t0001g0110a0003c0044t0002g0148others(1): Show | 4 | 152 | 0.0263 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03654.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0004 | a0001c0002t0002g0002a0002c0001t0004g0017 | 2 | 152 | 0.0132 | 20 | c.236 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108997408 | G | GAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 HG03195.hp2 others(2): Show |
a0001a0013 | a0001c0002a0001c0022a0013c0018 | a0001c0002t0001a0001c0002t0002a0001c0022t0003others(1): Show | a0001c0002t0001g0034a0001c0002t0002g0002a0001c0022t0003g0064others(2): Show | 5 | 152 | 0.0329 | 20 | c.244 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CACAGAGA others(13): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18995.hp2 |
a0002a0004 | a0002c0001a0004c0003 | a0002c0001t0013a0004c0003t0002 | a0002c0001t0013g0136a0004c0003t0002g0109 | 2 | 152 | 0.0132 | 20 | c.279 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01192.hp1 HG01243.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0001a0002c0009others(3): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(4): Show | a0001c0002t0001g0142a0002c0001t0001g0053a0002c0001t0002g0102others(4): Show | 7 | 152 | 0.0461 | 20 | c.279 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109107810 | C | CATATTAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(16): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0007a0001c0016others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0043a0001c0002t0002g0002a0001c0002t0004g0033others(16): Show | 19 | 152 | 0.1250 | 20 | c.343 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109176577 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03669.hp1 NA18950.hp1 others(1): Show |
a0001a0002a0006 | a0001c0002a0001c0007a0002c0001others(1): Show | a0001c0002t0003a0001c0007t0001a0002c0001t0001others(1): Show | a0001c0002t0003g0028a0001c0007t0001g0010a0002c0001t0001g0096others(1): Show | 4 | 152 | 0.0263 | 20 | c.532 others(39): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18A_chr17_29066122_29185398 | 29083506 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0207 | 1 | 306 | 0.0033 | 20 | c.589 others(39): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 40/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG01891.hp2 others(13): Show |
a0001a0006a0017 | a0001c0003a0001c0007a0006c0034others(1): Show | a0001c0003t0001a0001c0007t0003a0001c0007t0017others(3): Show | a0001c0003t0001g0149a0001c0003t0001g0154a0001c0003t0001g0157others(13): Show | 16 | 306 | 0.0523 | 20 | c.203 others(37): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18974.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0039 | a0001c0003t0001g0169a0001c0003t0039g0039 | 2 | 306 | 0.0065 | 20 | c.999 others(39): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(36): Show |
a0001a0005 | a0001c0003a0005c0016 | a0001c0003t0001a0001c0003t0003a0001c0003t0025others(3): Show | a0001c0003t0001g0009a0001c0003t0001g0040a0001c0003t0001g0043others(36): Show | 39 | 306 | 0.1275 | 20 | c.999 others(39): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25899799 | A | AGAGTGAC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(77): Show | a0001c0001a0001c0005a0001c0006others(140): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(143): Show | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0186others(189): Show | 192 | 228 | 0.8421 | 20 | c.482 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945703 | T | TCTCCCCT others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0012 | 1 | 228 | 0.0044 | 20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945732 | G | GCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0064 | a0064c0050 | a0064c0050t0002 | a0064c0050t0002g0081 | 1 | 228 | 0.0044 | 20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945857 | G | GCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02818.hp1 |
a0004a0011a0056 | a0004c0053a0011c0072a0056c0042 | a0004c0053t0001a0011c0072t0001a0056c0042t0002 | a0004c0053t0001g0101a0011c0072t0001g0006a0056c0042t0002g0068 | 3 | 228 | 0.0132 | 20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945857 | G | GCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(22): Show |
a0001a0002a0003others(16): Show | a0001c0021a0002c0002a0003c0139others(21): Show | a0001c0021t0001a0002c0002t0001a0003c0139t0001others(21): Show | a0001c0021t0001g0216a0001c0021t0001g0217a0002c0002t0001g0042others(22): Show | 25 | 228 | 0.1097 | 20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945911 | A | ACCCTCCC others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp1 others(5): Show |
a0003a0004a0008others(4): Show | a0003c0014a0004c0007a0004c0085others(5): Show | a0003c0014t0001a0004c0007t0001a0004c0085t0001others(5): Show | a0003c0014t0001g0055a0004c0007t0001g0086a0004c0085t0001g0108others(5): Show | 8 | 228 | 0.0351 | 20 | c.551 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948455 | C | CTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0053 | a0004c0053t0001 | a0004c0053t0001g0101 | 1 | 228 | 0.0044 | 20 | c.574 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948523 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18942.hp1 |
a0001a0009 | a0001c0005a0009c0058 | a0001c0005t0001a0009c0058t0002 | a0001c0005t0001g0181a0009c0058t0002g0111 | 2 | 228 | 0.0088 | 20 | c.574 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948527 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01257.hp2 others(14): Show |
a0001a0003a0004others(10): Show | a0001c0005a0001c0021a0003c0139others(13): Show | a0001c0005t0001a0001c0021t0001a0003c0139t0001others(13): Show | a0001c0005t0001g0191a0001c0021t0001g0216a0001c0021t0001g0217others(14): Show | 17 | 228 | 0.0746 | 20 | c.574 others(37): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25950518 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(47): Show |
a0001a0002a0003others(27): Show | a0001c0005a0001c0021a0001c0038others(42): Show | a0001c0005t0001a0001c0021t0001a0001c0038t0001others(42): Show | a0001c0005t0001g0181a0001c0021t0001g0216a0001c0021t0001g0217others(47): Show | 50 | 228 | 0.2193 | 20 | c.583 others(35): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 37/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25950518 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02602.hp1 NA20129.hp1 |
a0012a0059 | a0012c0015a0059c0077 | a0012c0015t0001a0059c0077t0002 | a0012c0015t0001g0199a0059c0077t0002g0168 | 2 | 228 | 0.0088 | 20 | c.583 others(36): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 37/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25997304 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0066 | 1 | 228 | 0.0044 | 20 | c.628 others(39): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | chr22 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191260254 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 170 | 0.0059 | 20 | c.-10 others(39): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO1D_chr17_32487522_32882124 | 32560556 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0192 | 1 | 244 | 0.0041 | 20 | c.286 others(41): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32818125 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01978.hp2 HG01993.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0106a0001c0001t0002g0034a0001c0001t0002g0069others(9): Show | 12 | 244 | 0.0492 | 20 | c.96- others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32864007 | C | CTTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0015 | a0004c0015t0003 | a0004c0015t0003g0112 | 1 | 244 | 0.0041 | 20 | c.95+ others(37): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59191332 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03130.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0011 | a0001c0002t0001a0001c0004t0007a0001c0004t0024others(1): Show | a0001c0002t0001g0212a0001c0004t0007g0147a0001c0004t0024g0148others(1): Show | 4 | 226 | 0.0177 | 20 | c.180 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 17/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59205509 | G | GAATTTCA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01346.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0045others(14): Show | a0001c0001t0001g0024a0001c0001t0001g0045a0001c0001t0001g0172others(29): Show | 32 | 226 | 0.1416 | 20 | c.153 others(35): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 14/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216594 | G | GTATCTAT others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0031 | a0001c0011t0031g0012 | 1 | 226 | 0.0044 | 20 | c.110 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216643 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0018a0001c0002t0001a0001c0004t0021 | a0001c0001t0018g0061a0001c0002t0001g0153a0001c0004t0021g0087 | 3 | 226 | 0.0133 | 20 | c.110 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18961.hp1 NA19001.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0125a0001c0002t0002g0044a0001c0002t0003g0176others(1): Show | 4 | 226 | 0.0177 | 20 | c.110 others(39): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59268720 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00609.hp2 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0045a0001c0001t0001g0204a0001c0001t0003g0043others(33): Show | 36 | 226 | 0.1593 | 20 | c.147 others(37): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 2/27 | chr15 | TogoVar |