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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC20_chr10_70293975_70387625 | 70367958 | C | CTATGTTA others(90): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0043 | a0001c0001t0014g0230 a0001c0001t0043g0200 |
2 | 32 | 0.0625 | 97 | c.82+ others(112): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
LRRC74A_chr14_76821408_76875304 | 76821718 | G | GGCCAGCC others(90): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0305 | 1 | 268 | 0.0037 | 97 | c.-49 others(108): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 4689 | chr14 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85192542 | T | TATATATA others(90): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(20): Show |
a0001a0004a0013others(1): Show | a0001c0001a0001c0013a0001c0016others(3): Show | a0001c0001t0001a0001c0013t0001a0001c0016t0003others(3): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(20): Show |
23 | 223 | 0.1031 | 97 | c.482 others(118): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRIQ1_chr12_85031351_85250105 | 85192542 | T | TATATATA others(90): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0095 | 1 | 201 | 0.0050 | 97 | c.482 others(118): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRIQ1_chr12_85031351_85250105 | 85192852 | T | TATATATA others(90): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0143 others(2): Show |
5 | 226 | 0.0221 | 97 | c.482 others(118): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LTBP2_chr14_74493183_74617237 | 74564065 | A | ATATATAT others(90): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0087 a0001c0002t0003g0207 |
2 | 271 | 0.0074 | 97 | c.831 others(114): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LYG2_chr2_99237246_99260666 | 99239790 | G | GCCCCCCC others(90): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 424 | 0.0024 | 97 | c.*25 others(108): Show |
LYG2 | ENSG00000185674.10 | transcript | ENST00000333017.7 | protein_coding | 2455 | chr2 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930037 | T | TCCCCCTC others(90): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 240 | 0.0042 | 97 | c.180 others(116): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1330323 | T | TCTCTCTC others(90): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0245 a0001c0001t0004g0287 |
2 | 334 | 0.0060 | 97 | c.657 others(114): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MALL_chr2_110078870_110120822 | 110115479 | T | TCTCGGTC others(90): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0277 | 1 | 195 | 0.0051 | 97 | c.105 others(112): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110115479 | T | TCTCGGTC others(90): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(67): Show |
78 | 272 | 0.2868 | 97 | c.105 others(112): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110115479 | T | TCTCGGTC others(90): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0030 | a0001c0001t0008g0173 a0001c0001t0030g0174 |
2 | 196 | 0.0102 | 97 | c.105 others(112): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110115531 | G | GGTCTCCC others(90): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0052 a0001c0001t0006g0053 |
2 | 334 | 0.0060 | 97 | c.105 others(112): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110115544 | C | CCCTCTCT others(90): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0051 a0001c0001t0006g0050 |
2 | 323 | 0.0062 | 97 | c.105 others(112): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140104395 | T | TTATATAA others(90): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 116 | 0.0086 | 97 | c.468 others(116): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6611558 | A | ATCTTTTC others(90): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0007 | a0003c0007t0009 | a0003c0007t0009g0007 | 2 | 353 | 0.0057 | 97 | c.256 others(114): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478108 | A | AGAGGGGG others(90): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0154 a0002c0003t0009g0155 |
2 | 138 | 0.0145 | 97 | c.525 others(114): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19514736 | T | TAGGAGGG others(90): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03239.hp1 NA19091.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0021 | a0001c0001t0006g0152 a0001c0001t0006g0153 a0002c0002t0021g0163 |
3 | 105 | 0.0286 | 97 | c.361 others(112): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 1/28 | chrX | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(90): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0137 a0001c0001t0002g0132 a0001c0001t0002g0135 others(6): Show |
9 | 210 | 0.0429 | 97 | c.-28 others(116): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTATAT others(90): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03516.hp1 HG03540.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0005a0004c0005t0010 | a0004c0005t0005g0024 a0004c0005t0005g0025 a0004c0005t0005g0082 others(1): Show |
5 | 240 | 0.0208 | 97 | c.-12 others(108): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274663 | T | TCCCCCAG others(90): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 356 | 0.0028 | 97 | c.-43 others(108): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4284 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274682 | A | AACCCCCC others(90): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0127 | 1 | 426 | 0.0023 | 97 | c.-43 others(108): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4303 | chr22 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975154 | C | CCTTTTCT others(90): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 257 | 0.0039 | 97 | c.*52 others(108): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3678 | chr18 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94953882 | C | CATATATA others(90): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03704.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0006 | a0001c0002t0001g0063 a0001c0004t0006g0019 |
2 | 98 | 0.0204 | 97 | c.839 others(112): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MCUB_chr4_109555246_109693719 | 109597453 | C | CGGGGGGC others(90): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 258 | 0.0039 | 97 | c.99+ others(114): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109597513 | C | CCCCCCCA others(90): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02486.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0069 a0004c0004t0001g0014 a0004c0004t0001g0029 others(6): Show |
9 | 334 | 0.0269 | 97 | c.99+ others(114): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MED16_chr19_862963_898187 | 878248 | C | CCCCAGCA others(90): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 54 | 0.0185 | 97 | c.135 others(116): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090494 | C | CCACACAC others(90): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18966.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0004 | a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0011t0004g0106 |
3 | 353 | 0.0085 | 97 | c.557 others(114): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142067986 | A | ATATATAT others(90): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 154 | 0.0065 | 97 | c.500 others(114): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MICAL2_chr11_12105590_12268785 | 12185126 | T | TGGATGGA others(90): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02027.hp2 HG02258.hp2 others(2): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0007others(1): Show | a0001c0003t0001a0001c0004t0002a0001c0007t0001others(1): Show | a0001c0003t0001g0338 a0001c0004t0002g0231 a0001c0004t0002g0233 others(2): Show |
5 | 6 | 0.8333 | 97 | c.265 others(116): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MLF2_chr12_6742996_6758141 | 6752414 | C | CCCACTCA others(90): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 424 | 0.0024 | 97 | c.-28 others(110): Show |
MLF2 | ENSG00000089693.11 | transcript | ENST00000203630.10 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543426 | G | GGACAGTG others(90): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 239 | 0.0042 | 97 | c.153 others(114): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544562 | G | GGACAGTG others(90): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 a0002c0002t0001g0135 |
2 | 216 | 0.0093 | 97 | c.153 others(116): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL45_chr17_38292168_38328211 | 38313311 | A | AAATATAT others(90): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0131 | 1 | 259 | 0.0039 | 97 | c.462 others(114): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75886464 | A | ATATTATA others(90): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(11): Show |
14 | 270 | 0.0519 | 97 | c.210 others(116): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767988 | G | GAGGGGCG others(90): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02071.hp2 HG02080.hp2 others(8): Show |
a0004a0005a0016others(2): Show | a0004c0006a0004c0020a0005c0043others(3): Show | a0004c0006t0001a0004c0020t0001a0005c0043t0001others(3): Show | a0004c0006t0001g0179 a0004c0006t0001g0220 a0004c0006t0001g0245 others(8): Show |
11 | 234 | 0.0470 | 97 | c.159 others(114): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767988 | G | GAGGGGCG others(90): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 |
3 | 226 | 0.0133 | 97 | c.159 others(114): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783564 | A | AGGGATGG others(90): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG01978.hp2 HG03710.hp1 |
a0001a0051a0096 | a0001c0075a0051c0087a0096c0115 | a0001c0075t0001a0051c0087t0001a0096c0115t0001 | a0001c0075t0001g0109 a0051c0087t0001g0015 a0096c0115t0001g0140 |
3 | 132 | 0.0227 | 97 | c.801 others(106): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8127/16756 | 8015/16239 | 2672/5412 | chr3 | TogoVar | |||
MYBPC1_chr12_101589971_101691028 | 101591776 | T | TTCTTCTT others(90): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 353 | 0.0028 | 97 | c.-32 others(108): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3194 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591785 | T | TTTTCTTC others(90): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 352 | 0.0028 | 97 | c.-32 others(108): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3185 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591789 | C | CTTCTTCT others(90): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 305 | 0.0033 | 97 | c.-32 others(108): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3181 | chr12 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770903 | A | AATATATA others(90): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 162 | 0.0062 | 97 | c.-25 others(108): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2492 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770930 | A | AATATATA others(90): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 73 | 0.0274 | 97 | c.-25 others(108): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2465 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770930 | A | AATATATA others(90): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG01993.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(10): Show |
23 | 94 | 0.2447 | 97 | c.-25 others(108): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2465 | chr3 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTCTCTTT others(90): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0119 | 1 | 144 | 0.0069 | 97 | c.903 others(112): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174001 | C | CTAGTTGT others(90): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02922.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0022 | a0001c0001t0001g0088 a0001c0001t0003g0087 a0001c0003t0022g0115 |
3 | 73 | 0.0411 | 97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174001 | C | CTAGTTGT others(90): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0218 | 1 | 71 | 0.0141 | 97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174130 | C | CCTGCAGC others(90): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02602.hp2 HG04199.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0002a0001c0005t0003 | a0001c0001t0003g0175 a0001c0002t0002g0200 a0001c0005t0003g0198 |
3 | 205 | 0.0146 | 97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174295 | G | GTAGTTGT others(90): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0136 | 1 | 222 | 0.0045 | 97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174477 | C | CCTGTAGC others(90): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 210 | 0.0048 | 97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |