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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1H_chr12_109342900_109453379 | 109353393 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0234 | 1 | 312 | 0.0032 | 21 | c.12+ others(36): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170648633 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(33): Show | a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 others(49): Show |
52 | 174 | 0.2989 | 21 | c.373 others(40): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649262 | A | AATATATT others(14): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 174 | 0.0058 | 21 | c.373 others(40): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01169.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0046a0001c0003t0035 | a0001c0001t0046g0235 a0001c0003t0035g0275 |
2 | 302 | 0.0066 | 21 | c.220 others(40): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 HG03516.hp2 others(1): Show |
a0001a0002a0008 | a0001c0003a0001c0004a0002c0002others(1): Show | a0001c0003t0007a0001c0004t0045a0002c0002t0006others(1): Show | a0001c0003t0007g0320 a0001c0004t0045g0151 a0002c0002t0006g0153 others(1): Show |
4 | 360 | 0.0111 | 21 | c.27+ others(36): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75787689 | T | TATATATG others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0062others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0050 others(4): Show |
7 | 358 | 0.0196 | 21 | c.-47 others(40): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | chr6 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75924531 | A | AATTAATA others(14): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0048 a0001c0001t0021g0051 |
2 | 358 | 0.0056 | 21 | c.*95 others(32): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 4995 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77182389 | C | CCGCTCTG others(14): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001a0005a0011others(1): Show | a0001c0070a0005c0055a0011c0028others(1): Show | a0001c0070t0001a0005c0055t0001a0011c0028t0001others(1): Show | a0001c0070t0001g0340 a0005c0055t0001g0140 a0011c0028t0001g0319 others(1): Show |
4 | 356 | 0.0112 | 21 | c.310 others(36): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 24/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(99): Show |
a0001a0002a0004others(10): Show | a0001c0003a0001c0005a0002c0001others(25): Show | a0001c0003t0001a0001c0005t0001a0002c0001t0001others(25): Show | a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0045 others(95): Show |
102 | 356 | 0.2865 | 21 | c.415 others(38): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0145 | 1 | 282 | 0.0036 | 21 | c.592 others(38): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 HG02148.hp2 others(3): Show |
a0001a0002a0039others(1): Show | a0001c0004a0002c0001a0002c0011others(2): Show | a0001c0004t0001a0002c0001t0001a0002c0011t0002others(2): Show | a0001c0004t0001g0055 a0002c0001t0001g0198 a0002c0001t0001g0218 others(3): Show |
6 | 282 | 0.0213 | 21 | c.592 others(38): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127572468 | C | CTTTTCTC others(14): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02602.hp2 HG02970.hp2 others(2): Show |
a0003a0004a0009 | a0003c0003a0004c0007a0009c0014 | a0003c0003t0001a0004c0007t0003a0009c0014t0001 | a0003c0003t0001g0121 a0003c0003t0001g0123 a0004c0007t0003g0007 others(2): Show |
5 | 282 | 0.0177 | 21 | c.593 others(38): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71860969 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01346.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0016others(1): Show | a0001c0002t0002g0046 a0001c0002t0004g0091 a0001c0002t0004g0094 others(3): Show |
6 | 308 | 0.0195 | 21 | c.609 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 33/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 308 | 0.0033 | 21 | c.268 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18994.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0016 | a0001c0001t0001g0152 a0001c0002t0016g0072 |
2 | 308 | 0.0065 | 21 | c.256 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 |
a0001a0022 | a0001c0002a0022c0030 | a0001c0002t0004a0022c0030t0021 | a0001c0002t0004g0097 a0022c0030t0021g0017 |
2 | 308 | 0.0065 | 21 | c.256 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 308 | 0.0033 | 21 | c.256 others(40): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02293.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0073a0001c0001t0075others(1): Show | a0001c0001t0002g0242 a0001c0001t0073g0105 a0001c0001t0075g0106 others(1): Show |
4 | 346 | 0.0116 | 21 | c.56- others(36): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93354702 | T | TCTCTCTC others(14): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0055 | a0001c0001t0002a0001c0055t0001 | a0001c0001t0002g0201 a0001c0055t0001g0159 |
2 | 240 | 0.0083 | 21 | c.340 others(38): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93370314 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0031 | 1 | 240 | 0.0042 | 21 | c.245 others(38): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 24/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 240 | 0.0042 | 21 | c.-11 others(32): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTTATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0023 | a0023c0029 | a0023c0029t0001 | a0023c0029t0001g0003 a0023c0029t0001g0004 |
2 | 330 | 0.0061 | 21 | c.*27 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3127306 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18993.hp1 |
a0010a0034 | a0010c0058a0034c0166 | a0010c0058t0004a0034c0166t0003 | a0010c0058t0004g0285 a0034c0166t0003g0220 |
2 | 330 | 0.0061 | 21 | c.279 others(38): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 18/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085648 | C | CACTGTCG others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0053 | a0053c0198 | a0053c0198t0001 | a0053c0198t0001g0093 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085725 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0026 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085754 | C | CACTGTCG others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0053 | a0053c0198 | a0053c0198t0001 | a0053c0198t0001g0093 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085885 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0071 | a0002c0071t0001 | a0002c0071t0001g0176 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085887 | C | CACTGTCA others(14): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0108 | a0002c0108t0001 | a0002c0108t0001g0072 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086074 | C | CACTGTCA others(14): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0060 | a0060c0077 | a0060c0077t0001 | a0060c0077t0001g0011 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086099 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0108 | a0002c0108t0001 | a0002c0108t0001g0072 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086101 | C | CACTGTCA others(14): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0017 | a0017c0078 | a0017c0078t0001 | a0017c0078t0001g0304 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086305 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0121 | a0002c0121t0001 | a0002c0121t0001g0007 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086359 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0053 | a0053c0198 | a0053c0198t0001 | a0053c0198t0001g0093 | 1 | 403 | 0.0025 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086361 | C | CACTGTCA others(14): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 |
a0001a0044 | a0001c0009a0044c0151 | a0001c0009t0001a0044c0151t0001 | a0001c0009t0001g0365 a0001c0009t0001g0366 a0044c0151t0001g0195 |
3 | 403 | 0.0074 | 21 | c.164 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0323 | 1 | 403 | 0.0025 | 21 | c.345 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69945986 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0003a0006c0009t0003 | a0002c0002t0003g0316 a0006c0009t0003g0222 |
2 | 322 | 0.0062 | 21 | c.222 others(40): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0005 | a0002c0005t0079 | a0002c0005t0079g0263 | 1 | 410 | 0.0024 | 21 | c.68+ others(36): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0252 | 1 | 410 | 0.0024 | 21 | c.68+ others(36): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57616822 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 others(6): Show |
9 | 352 | 0.0256 | 21 | c.163 others(38): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57620039 | G | GCAGCTCA others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0244 a0001c0001t0020g0310 |
2 | 352 | 0.0057 | 21 | c.319 others(38): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57688435 | T | TCTATATG others(14): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0241 a0001c0003t0003g0126 |
2 | 352 | 0.0057 | 21 | c.*39 others(32): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3072 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57689151 | C | CATATATG others(14): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0001g0241 a0001c0001t0004g0007 a0001c0001t0004g0246 others(4): Show |
8 | 352 | 0.0227 | 21 | c.*46 others(32): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3788 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57689166 | T | TACACATA others(14): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0116 a0001c0003t0006g0117 a0001c0003t0006g0120 |
3 | 352 | 0.0085 | 21 | c.*46 others(32): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3803 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57689184 | A | ATATACAC others(14): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0160 | 1 | 352 | 0.0028 | 21 | c.*46 others(32): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3821 | chr15 | TogoVar | |||||||
MZF1_chr19_58556932_58578335 | 58557278 | A | ACCCCCAG others(14): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0119 | 1 | 414 | 0.0024 | 21 | c.*47 others(32): Show |
MZF1 | ENSG00000099326.9 | transcript | ENST00000215057.7 | protein_coding | 4653 | chr19 | TogoVar | |||||||
N4BP2L2_chr13_32505292_32543795 | 32540970 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00673.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 others(26): Show |
32 | 394 | 0.0812 | 21 | c.-23 others(32): Show |
N4BP2L2 | ENSG00000244754.9 | transcript | ENST00000267068.6 | protein_coding | 2176 | chr13 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40134931 | T | TATTTTAT others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 NA19074.hp1 NA19091.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0070a0005c0005t0007 | a0001c0001t0070g0315 a0005c0005t0007g0203 a0005c0005t0007g0205 |
3 | 366 | 0.0082 | 21 | c.464 others(40): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 13/17 | chr4 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112086102 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 342 | 0.0029 | 21 | c.402 others(38): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | |||||||
NAA30_chr14_57385586_57420906 | 57415302 | T | TCAACAAC others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0002 | 1 | 256 | 0.0039 | 21 | c.*57 others(32): Show |
NAA30 | ENSG00000139977.14 | transcript | ENST00000556492.6 | protein_coding | 5/5 | 5787 | chr14 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3478064 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03098.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010a0001c0002t0017others(1): Show | a0001c0002t0006g0080 a0001c0002t0010g0333 a0001c0002t0017g0025 others(1): Show |
4 | 376 | 0.0106 | 21 | c.111 others(38): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |