| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00741.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0013others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0126a0001c0001t0001g0131a0001c0001t0001g0176others(6): Show | 9 | 360 | 0.0250 | 30 | c.516 others(47): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | ||||||
| MYH4_chr17_10438290_10474559 | 10470605 | A | AATTAATG others(23): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 338 | 0.0030 | 30 | c.-11 others(41): Show |
MYH4 | ENSG00000264424.1 | transcript | ENST00000255381.2 | protein_coding | 1047 | chr17 | TogoVar | ||||||
| MYH8_chr17_10385322_10426950 | 10414059 | G | GGAGAAAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 324 | 0.0031 | 30 | c.100 others(45): Show |
MYH8 | ENSG00000133020.4 | transcript | ENST00000403437.2 | protein_coding | 11/39 | chr17 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2725577 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02615.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0030a0001c0001t0037others(1): Show | a0001c0001t0023g0149a0001c0001t0030g0028a0001c0001t0037g0178others(1): Show | 4 | 384 | 0.0104 | 30 | c.159 others(49): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123607470 | T | TATAAAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02647.hp1 |
a0005a0006 | a0005c0016a0006c0009 | a0005c0016t0051a0006c0009t0049 | a0005c0016t0051g0112a0006c0009t0049g0129 | 2 | 156 | 0.0128 | 30 | c.*66 others(41): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2578 | chr3 | TogoVar | ||||||
| MYO10_chr5_16656907_16941288 | 16679524 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0026 | a0002c0026t0152 | a0002c0026t0152g0181 | 1 | 272 | 0.0037 | 30 | c.454 others(47): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 33/40 | chr5 | TogoVar | ||||||
| MYO16_chr13_108624611_109213005 | 108753370 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 152 | 0.0066 | 30 | c.507 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0129 | 1 | 152 | 0.0066 | 30 | c.236 others(49): 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(23): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02897.hp1 |
a0001a0007 | a0001c0010a0007c0006 | a0001c0010t0001a0007c0006t0004 | a0001c0010t0001g0130a0007c0006t0004g0015 | 2 | 152 | 0.0132 | 30 | c.236 others(49): 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(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0139 | 1 | 152 | 0.0066 | 30 | c.236 others(49): 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(23): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0025 | 1 | 152 | 0.0066 | 30 | c.236 others(49): 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(23): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0009 | a0009c0015 | a0009c0015t0005 | a0009c0015t0005g0079 | 1 | 152 | 0.0066 | 30 | c.236 others(49): 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(23): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010 | 1 | 152 | 0.0066 | 30 | c.236 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 108972351 | C | CATCTATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0033 | a0006c0033t0003 | a0006c0033t0003g0014 | 1 | 152 | 0.0066 | 30 | c.236 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109040385 | C | CACAGAGA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 152 | 0.0066 | 30 | c.279 others(49): 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(23): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0060 | 1 | 152 | 0.0066 | 30 | c.279 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109098040 | C | CATGAGCA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00621.hp1 others(109): Show |
a0001a0002a0003others(26): Show | a0001c0002a0001c0005a0001c0008others(55): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(79): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0012others(109): Show | 112 | 152 | 0.7368 | 30 | c.333 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109176577 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03139.hp2 |
a0001a0011 | a0001c0022a0011c0021 | a0001c0022t0001a0011c0021t0001 | a0001c0022t0001g0072a0011c0021t0001g0132 | 2 | 152 | 0.0132 | 30 | c.532 others(49): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0206a0002c0008t0003g0208 | 2 | 306 | 0.0065 | 30 | c.203 others(47): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | ||||||
| MYO18B_chr22_25737188_26036045 | 25945777 | G | GCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0012 | a0012c0138 | a0012c0138t0001 | a0012c0138t0001g0013 | 1 | 228 | 0.0044 | 30 | c.551 others(47): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYO1D_chr17_32487522_32882124 | 32818125 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 244 | 0.0041 | 30 | c.96- others(47): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59191332 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0051 | a0001c0004t0051g0025 | 1 | 226 | 0.0044 | 30 | c.180 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 17/27 | chr15 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02148.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0057a0001c0002t0008g0074 | 2 | 226 | 0.0089 | 30 | c.110 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0012 | a0001c0001t0009g0135a0001c0003t0012g0159 | 2 | 226 | 0.0089 | 30 | c.110 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp2 NA18952.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0002t0001a0001c0003t0002 | a0001c0001t0014g0192a0001c0002t0001g0155a0001c0003t0002g0138 | 3 | 226 | 0.0133 | 30 | c.110 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
| MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01884.hp2 others(14): Show |
a0001a0004 | a0001c0002a0004c0013 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0137a0001c0002t0002g0105a0001c0002t0003g0046others(14): Show | 17 | 226 | 0.0752 | 30 | c.110 others(49): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0314a0001c0001t0003g0315 | 2 | 342 | 0.0059 | 30 | c.327 others(45): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18941.hp2 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0330a0001c0001t0003g0175a0001c0001t0003g0189others(1): Show | 4 | 342 | 0.0117 | 30 | c.327 others(45): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0033 | 1 | 342 | 0.0029 | 30 | c.327 others(45): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar | ||||||
| MYO1H_chr12_109342900_109453379 | 109427907 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03834.hp2 |
a0002 | a0002c0001a0002c0027 | a0002c0001t0001a0002c0027t0001 | a0002c0001t0001g0153a0002c0027t0001g0062 | 2 | 312 | 0.0064 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02738.hp1 |
a0002a0004 | a0002c0001a0004c0009 | a0002c0001t0001a0004c0009t0001 | a0002c0001t0001g0028a0004c0009t0001g0240 | 2 | 312 | 0.0064 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19000.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0141a0002c0001t0001g0144 | 2 | 312 | 0.0064 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 NA18967.hp2 NA19082.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119a0002c0001t0001g0136a0002c0001t0001g0185 | 3 | 312 | 0.0096 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109427909 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18975.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0069a0002c0001t0001g0100 | 2 | 312 | 0.0064 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO1H_chr12_109342900_109453379 | 109427909 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0009 | 1 | 312 | 0.0032 | 30 | c.194 others(47): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170174301 | T | TGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 174 | 0.0058 | 30 | c.-39 others(41): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 3845 | chr2 | TogoVar | ||||||
| MYO3B_chr2_170173147_170660167 | 170230336 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0002 | 1 | 174 | 0.0058 | 30 | c.604 others(47): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170407581 | T | TGCTCTGG others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(25): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(20): Show | a0001c0001t0005g0042a0001c0002t0001g0152a0001c0002t0003g0159others(25): Show | 28 | 174 | 0.1609 | 30 | c.252 others(47): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19063.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0054a0001c0003t0003 | a0001c0001t0054g0287a0001c0003t0003g0266 | 2 | 302 | 0.0066 | 30 | c.220 others(49): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG02630.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0002c0028others(4): Show | a0001c0001t0001a0002c0009t0005a0002c0028t0005others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0189a0002c0009t0005g0131others(6): Show | 9 | 238 | 0.0378 | 30 | c.105 others(47): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52232190 | G | GGAAAAGA others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0341 | 1 | 360 | 0.0028 | 30 | c.302 others(47): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | ||||||
| MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0032 | a0001c0001t0004g0156a0001c0001t0004g0157a0001c0001t0004g0219others(1): Show | 4 | 360 | 0.0111 | 30 | c.139 others(45): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
| MYO7A_chr11_77123246_77220241 | 77193131 | A | ATGGTGTT others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01358.hp2 others(8): Show |
a0005a0006a0007 | a0005c0032a0006c0006a0007c0010 | a0005c0032t0001a0006c0006t0001a0007c0010t0001 | a0005c0032t0001g0005a0005c0032t0001g0222a0006c0006t0001g0005others(8): Show | 11 | 356 | 0.0309 | 30 | c.415 others(47): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02615.hp2 NA19060.hp1 |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0005a0009c0010t0001 | a0001c0001t0001g0179a0001c0001t0005g0216a0009c0010t0001g0134 | 3 | 308 | 0.0097 | 30 | c.268 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71928027 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01358.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0031a0001c0002t0004 | a0001c0001t0001g0221a0001c0001t0031g0111a0001c0002t0004g0082 | 3 | 308 | 0.0097 | 30 | c.256 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0127a0001c0001t0001g0164a0001c0001t0001g0177others(1): Show | 4 | 308 | 0.0130 | 30 | c.256 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 308 | 0.0033 | 30 | c.256 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0004 | 1 | 308 | 0.0033 | 30 | c.218 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108a0001c0001t0005g0110 | 2 | 308 | 0.0065 | 30 | c.218 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 71975390 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 NA18942.hp2 |
a0001a0008a0025 | a0001c0002a0008c0018a0025c0031 | a0001c0002t0007a0008c0018t0018a0025c0031t0021 | a0001c0002t0007g0003a0008c0018t0018g0266a0025c0031t0021g0017 | 3 | 308 | 0.0097 | 30 | c.184 others(49): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 12/41 | chr15 | TogoVar |