view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO16_chr13_108624611_109213005 | 109022291 | A | AATATACA others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0100 | 1 | 37 | 0.0270 | 25 | c.279 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023709 | A | ATACATAT others(18): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0088 | 1 | 89 | 0.0112 | 25 | c.279 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109040416 | A | AGAGAGAG others(18): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19057.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0109 a0002c0001t0002g0143 |
2 | 150 | 0.0133 | 25 | c.279 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | chr13 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109107810 | C | CATATTAT others(18): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0090 | 1 | 38 | 0.0263 | 25 | c.343 others(44): 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(18): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03195.hp1 |
a0011a0026 | a0011c0018a0026c0039 | a0011c0018t0001a0026c0039t0001 | a0011c0018t0001g0134 a0026c0039t0001g0138 |
2 | 29 | 0.0690 | 25 | c.532 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25944352 | C | CAGGGGCT others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0037 | 1 | 226 | 0.0044 | 25 | c.551 others(44): 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(18): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0015 | a0015c0126 | a0015c0126t0001 | a0015c0126t0001g0165 | 1 | 216 | 0.0046 | 25 | c.551 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25945762 | G | GCCTCCCC others(18): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0085 | 1 | 187 | 0.0053 | 25 | c.551 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1B_chr2_191240404_191430386 | 191260254 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03831.hp1 NA18941.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0004t0001g0069 others(2): Show |
5 | 65 | 0.0769 | 25 | c.-10 others(44): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32818125 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01433.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0033others(1): Show | a0001c0001t0001g0064 a0001c0001t0003g0092 a0001c0001t0033g0090 others(1): Show |
4 | 71 | 0.0563 | 25 | c.96- others(42): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59193064 | A | ACAGTCTA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0038 others(124): Show |
127 | 224 | 0.5670 | 25 | c.180 others(44): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 17/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59241921 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0019 | a0001c0002t0015a0001c0004t0002a0001c0004t0006others(3): Show | a0001c0002t0015g0151 a0001c0004t0002g0152 a0001c0004t0006g0171 others(3): Show |
6 | 212 | 0.0283 | 25 | c.333 others(42): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 4/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59255416 | A | ATGGAGTC others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 224 | 0.0045 | 25 | c.332 others(40): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 4/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59257521 | C | CTTACTTA others(18): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0133 | 1 | 224 | 0.0045 | 25 | c.238 others(42): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59268720 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0076 | 1 | 22 | 0.0455 | 25 | c.147 others(42): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59319550 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19003.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0056 | a0001c0001t0001g0102 a0001c0006t0056g0224 |
2 | 26 | 0.0769 | 25 | c.4-4 others(40): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59353369 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20805.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0004t0007 | a0001c0002t0004g0035 a0001c0004t0007g0034 |
2 | 31 | 0.0645 | 25 | c.3+1 others(40): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01358.hp2 NA19084.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0160 a0002c0001t0001g0227 |
2 | 73 | 0.0274 | 25 | c.194 others(42): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427909 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 NA18952.hp2 |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0001a0003c0002t0002 | a0002c0001t0001g0129 a0002c0001t0001g0130 a0003c0002t0002g0080 |
3 | 74 | 0.0405 | 25 | c.194 others(42): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | chr12 | TogoVar | |||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01516.hp1 HG02280.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0013 | a0001c0001t0023a0001c0001t0024a0001c0001t0058others(2): Show | a0001c0001t0023g0281 a0001c0001t0024g0231 a0001c0001t0058g0192 others(2): Show |
5 | 35 | 0.1429 | 25 | c.220 others(44): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50043416 | T | TTAAATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 183 | 0.0055 | 25 | c.139 others(42): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02258.hp1 HG02895.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0003t0007a0001c0004t0001others(1): Show | a0001c0001t0003g0146 a0001c0003t0007g0319 a0001c0004t0001g0147 others(1): Show |
4 | 128 | 0.0313 | 25 | c.27+ others(40): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75787685 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0028 |
2 | 356 | 0.0056 | 25 | c.-47 others(44): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | chr6 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG03098.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0228 |
2 | 154 | 0.0130 | 25 | c.268 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01167.hp2 others(8): Show |
a0001a0028 | a0001c0001a0028c0025 | a0001c0001t0001a0028c0025t0028 | a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0138 others(8): Show |
11 | 163 | 0.0675 | 25 | c.268 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02004.hp2 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0179 a0001c0002t0004g0069 |
2 | 105 | 0.0190 | 25 | c.256 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 104 | 0.0096 | 25 | c.256 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0038 | a0001c0001t0033g0117 a0001c0002t0038g0070 |
2 | 105 | 0.0190 | 25 | c.256 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 104 | 0.0096 | 25 | c.256 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 others(1): Show |
4 | 70 | 0.0571 | 25 | c.218 others(44): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12693625 | G | GAATAAAA others(18): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 91 | 0.0110 | 25 | c.56- others(42): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93354702 | T | TCTCTCTC others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 NA18995.hp2 |
a0001 | a0001c0003a0001c0051 | a0001c0003t0001a0001c0051t0001 | a0001c0003t0001g0135 a0001c0051t0001g0059 |
2 | 232 | 0.0086 | 25 | c.340 others(42): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTTATATA others(18): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03579.hp2 |
a0002a0015 | a0002c0049a0015c0069 | a0002c0049t0001a0015c0069t0001 | a0002c0049t0001g0007 a0015c0069t0001g0162 |
2 | 177 | 0.0113 | 25 | c.*27 others(36): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085518 | C | CCACTGTC others(18): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18970.hp2 NA19085.hp2 |
a0002a0006a0092 | a0002c0088a0006c0191a0092c0081 | a0002c0088t0002a0006c0191t0001a0092c0081t0001 | a0002c0088t0002g0023 a0006c0191t0001g0169 a0092c0081t0001g0317 |
3 | 397 | 0.0076 | 25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085698 | C | CCCCCACT others(18): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0017 | a0017c0077 | a0017c0077t0001 | a0017c0077t0001g0305 | 1 | 381 | 0.0026 | 25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085801 | G | GTGGCCCC others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0263 | 1 | 397 | 0.0025 | 25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18747.hp2 |
a0001a0008 | a0001c0022a0008c0008 | a0001c0022t0001a0008c0008t0001 | a0001c0022t0001g0083 a0008c0008t0001g0247 |
2 | 98 | 0.0204 | 25 | c.345 others(44): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24067394 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0130 | 1 | 353 | 0.0028 | 25 | c.335 others(42): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24075076 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG06807.hp2 |
a0008a0022a0036 | a0008c0082a0022c0028a0036c0086 | a0008c0082t0001a0022c0028t0001a0036c0086t0011 | a0008c0082t0001g0317 a0022c0028t0001g0016 a0036c0086t0011g0066 |
3 | 214 | 0.0140 | 25 | c.285 others(42): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 22/36 | chr1 | TogoVar | |||||||
MYOZ3_chr5_150656251_150684368 | 150683495 | A | AAAAAGAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0063 | 1 | 385 | 0.0026 | 25 | c.*66 others(36): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4128 | chr5 | TogoVar | |||||||
MYPN_chr10_68104488_68217017 | 68169181 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0008 | a0007c0008t0018 | a0007c0008t0018g0172 | 1 | 81 | 0.0123 | 25 | c.197 others(44): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69945986 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 37 | 0.0270 | 25 | c.222 others(44): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192309 | C | CATATATA others(18): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0063 a0001c0002t0016g0054 |
2 | 164 | 0.0122 | 25 | c.166 others(44): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02738.hp2 HG03490.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0127 a0001c0001t0001g0134 others(9): Show |
13 | 48 | 0.2708 | 25 | c.68+ others(40): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG02155.hp2 others(15): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0032 others(13): Show |
18 | 53 | 0.3396 | 25 | c.68+ others(40): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0026 others(23): Show |
36 | 71 | 0.5070 | 25 | c.68+ others(40): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0009 a0001c0001t0009g0313 |
2 | 37 | 0.0541 | 25 | c.68+ others(40): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 36 | 0.0278 | 25 | c.68+ others(40): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64212236 | T | TGGGGGCC others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0008 | a0002c0008t0020 | a0002c0008t0020g0132 | 1 | 216 | 0.0046 | 25 | c.151 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64212236 | T | TGGGGGCC others(18): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0080 | 1 | 216 | 0.0046 | 25 | c.151 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |