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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP6_chr14_32324298_32842684 | 32372770 | C | CTGTGTG | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 |
a0001a0013 | a0001c0004a0013c0048 | a0001c0004t0007a0013c0048t0034 | a0001c0004t0007g0020 a0013c0048t0034g0118 |
2 | 9 | 0.2222 | 6 | c.-35 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32398821 | C | CCTCTCT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02630.hp2 others(3): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0004a0005c0011others(3): Show | a0001c0001t0001a0001c0004t0006a0005c0011t0009others(3): Show | a0001c0001t0001g0040 a0001c0004t0006g0119 a0005c0011t0009g0153 others(3): Show |
6 | 151 | 0.0397 | 6 | c.-34 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATATAT | intron_variant | MODIFIER | HG02132.hp2 HG02165.hp2 |
a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0082 a0003c0002t0003g0086 |
2 | 14 | 0.1429 | 6 | c.-34 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32420909 | T | TTGTGTG | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01993.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0002c0005others(9): Show | a0001c0001t0001a0001c0004t0007a0002c0005t0001others(10): Show | a0001c0001t0001g0049 a0001c0004t0007g0109 a0002c0005t0001g0066 others(10): Show |
13 | 18 | 0.7222 | 6 | c.-34 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32469522 | T | TTTACAG | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 |
a0004a0013 | a0004c0027a0013c0048 | a0004c0027t0004a0013c0048t0034 | a0004c0027t0004g0107 a0013c0048t0034g0118 |
2 | 152 | 0.0132 | 6 | c.324 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32483001 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01175.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0038a0001c0001t0047others(21): Show | a0001c0001t0001g0125 a0001c0001t0038g0039 a0001c0001t0047g0128 others(26): Show |
29 | 77 | 0.3766 | 6 | c.324 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32483003 | A | ATGTGTG | intron_variant | MODIFIER | HG01071.hp1 HG01978.hp1 HG02074.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0005a0003c0002others(6): Show | a0001c0001t0001a0001c0001t0048a0002c0005t0001others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0087 others(12): Show |
15 | 45 | 0.3333 | 6 | c.324 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32509120 | C | CTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01243.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0017others(4): Show | a0001c0001t0001a0001c0001t0047a0002c0003t0002others(5): Show | a0001c0001t0001g0134 a0001c0001t0047g0128 a0002c0003t0002g0074 others(5): Show |
8 | 26 | 0.3077 | 6 | c.325 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32593011 | A | AACACAC | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02280.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0007a0001c0006t0007others(4): Show | a0001c0001t0001g0040 a0001c0004t0007g0020 a0001c0006t0007g0099 others(4): Show |
7 | 17 | 0.4118 | 6 | c.247 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32608297 | G | GAGTTCA | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 HG03516.hp2 others(1): Show |
a0001a0018 | a0001c0001a0001c0006a0001c0019others(1): Show | a0001c0001t0008a0001c0006t0007a0001c0019t0001others(1): Show | a0001c0001t0008g0129 a0001c0006t0007g0099 a0001c0019t0001g0002 others(1): Show |
4 | 152 | 0.0263 | 6 | c.273 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32690076 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG01978.hp2 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0004t0007a0001c0006t0007others(15): Show | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0004t0007g0020 others(16): Show |
19 | 40 | 0.4750 | 6 | c.288 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32723551 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01261.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0003a0002c0005others(3): Show | a0001c0006t0032a0002c0003t0002a0002c0005t0002others(3): Show | a0001c0006t0032g0120 a0002c0003t0002g0149 a0002c0005t0002g0122 others(3): Show |
6 | 101 | 0.0594 | 6 | c.300 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32724990 | T | TAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02615.hp1 others(7): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0006a0004c0021others(5): Show | a0001c0001t0001a0001c0001t0030a0001c0006t0010others(7): Show | a0001c0001t0001g0029 a0001c0001t0030g0016 a0001c0006t0010g0144 others(7): Show |
10 | 43 | 0.2326 | 6 | c.300 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32764695 | T | TACACAC | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 HG06807.hp1 |
a0004a0005a0010 | a0004c0018a0005c0059a0010c0012 | a0004c0018t0004a0005c0059t0010a0010c0012t0037 | a0004c0018t0004g0065 a0005c0059t0010g0028 a0010c0012t0037g0123 |
3 | 44 | 0.0682 | 6 | c.337 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32841991 | T | TCCCCTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0006others(39): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(69): Show | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0087 others(94): Show |
97 | 118 | 0.8220 | 6 | c.*12 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 4308 | chr14 | TogoVar | |||||||
AKAP7_chr6_131130467_131288532 | 131241569 | T | TTATATA | intron_variant | MODIFIER | HG00323.hp1 HG01981.hp2 HG03490.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0003g0049 others(1): Show |
4 | 282 | 0.0142 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131241577 | A | ATGTGTG | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0088 others(4): Show |
7 | 217 | 0.0323 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131247269 | G | GTATATA | intron_variant | MODIFIER | HG00140.hp1 NA18963.hp2 NA18989.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0031 a0001c0001t0002g0248 a0001c0001t0004g0196 others(1): Show |
4 | 40 | 0.1000 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP8L_chr19_15375050_15423988 | 15395983 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0215 a0001c0001t0001g0216 others(2): Show |
5 | 28 | 0.1786 | 6 | c.153 others(25): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 12/13 | chr19 | TogoVar | |||||||
AKAP8L_chr19_15375050_15423988 | 15406362 | G | GGAGAGA | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01496.hp2 others(19): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 others(19): Show |
22 | 82 | 0.2683 | 6 | c.89- others(21): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 2/13 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15353320 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(41): Show |
49 | 109 | 0.4495 | 6 | c.*15 others(17): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 64 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15353345 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02738.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0127 others(3): Show |
6 | 264 | 0.0227 | 6 | c.*15 others(17): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 39 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15364108 | C | CAAAAAA | intron_variant | MODIFIER | HG02040.hp1 HG02451.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(13): Show |
16 | 48 | 0.3333 | 6 | c.116 others(25): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15380497 | G | GGCGCCT | upstream_gene_variant | MODIFIER | HG02523.hp1 NA19004.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0002g0153 |
3 | 284 | 0.0106 | 6 | c.-76 others(15): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 711 | chr19 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 91941882 | T | TTGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG01243.hp2 others(15): Show |
a0001a0003a0010 | a0001c0001a0001c0008a0003c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(15): Show |
18 | 99 | 0.1818 | 6 | c.48+ others(19): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91963482 | T | TCACACA | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG02027.hp2 others(17): Show |
a0001a0002a0019 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0001g0104 others(17): Show |
20 | 56 | 0.3571 | 6 | c.49- others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91963482 | T | TCTCACA | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01168.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 others(11): Show |
14 | 50 | 0.2800 | 6 | c.49- others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91980495 | C | CTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01261.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0019a0002c0002others(4): Show | a0001c0001t0001a0001c0019t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0024 others(29): Show |
32 | 158 | 0.2025 | 6 | c.351 others(21): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 3/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92018395 | A | AACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01192.hp2 others(6): Show |
a0001a0004a0016others(1): Show | a0001c0001a0004c0005a0016c0024others(1): Show | a0001c0001t0001a0004c0005t0001a0016c0024t0001others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0145 others(6): Show |
9 | 163 | 0.0552 | 6 | c.383 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 12/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92024439 | G | GTATATA | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 NA18979.hp2 |
a0002 | a0002c0002a0002c0034 | a0002c0002t0002a0002c0034t0002 | a0002c0002t0002g0256 a0002c0002t0002g0300 a0002c0034t0002g0277 |
3 | 231 | 0.0130 | 6 | c.414 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 14/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92061584 | C | CTATATA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01256.hp2 others(14): Show |
a0001a0015 | a0001c0001a0015c0026 | a0001c0001t0001a0015c0026t0001 | a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0088 others(14): Show |
17 | 54 | 0.3148 | 6 | c.576 others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 23/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92102448 | T | TTACTAC | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG03471.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0023a0002c0013others(2): Show | a0001c0001t0001a0001c0023t0001a0002c0013t0002others(2): Show | a0001c0001t0001g0135 a0001c0001t0001g0180 a0001c0023t0001g0131 others(3): Show |
6 | 78 | 0.0769 | 6 | c.110 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIP1_chr11_8906189_8925079 | 8910709 | A | AGTGTGT | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18983.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 |
3 | 271 | 0.0111 | 6 | c.-52 others(15): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 479 | chr11 | TogoVar | |||||||
AKIP1_chr11_8906189_8925079 | 8912871 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(30): Show |
87 | 117 | 0.7436 | 6 | c.303 others(21): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 39001870 | T | TATTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 others(217): Show |
391 | 424 | 0.9222 | 6 | c.496 others(21): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87676596 | A | AACACAC | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01255.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0031 | a0001c0001t0003g0006 a0001c0001t0003g0244 a0001c0001t0003g0245 others(12): Show |
19 | 54 | 0.3519 | 6 | c.530 others(21): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
AKIRIN2_chr6_87669860_87707233 | 87687439 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0236 others(88): Show |
124 | 245 | 0.5061 | 6 | c.236 others(23): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108856721 | C | CACATAA | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02976.hp1 others(1): Show |
a0009 | a0009c0014 | a0009c0014t0005 | a0009c0014t0005g0044 a0009c0014t0005g0045 a0009c0014t0005g0046 others(1): Show |
4 | 396 | 0.0101 | 6 | c.-10 others(23): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114372964 | C | CGGGGGG | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(22): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(8): Show | a0001c0001t0002g0143 a0001c0001t0003g0033 a0001c0001t0003g0061 others(21): Show |
25 | 53 | 0.4717 | 6 | c.141 others(25): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4/21 | chr9 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114392104 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0035a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0064 others(73): Show |
81 | 268 | 0.3022 | 6 | c.-43 others(17): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4123 | chr9 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45547055 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02027.hp2 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0077 a0001c0001t0002g0109 |
8 | 74 | 0.1081 | 6 | c.-41 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 3770 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01099.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0164 others(17): Show |
29 | 38 | 0.7632 | 6 | c.-21 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549863 | A | ATATCTG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(176): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0222 a0001c0001t0002g0001 a0001c0001t0002g0003 others(96): Show |
179 | 350 | 0.5114 | 6 | c.-12 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 962 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45556226 | G | GATAATT | intron_variant | MODIFIER | NA18940.hp2 NA18944.hp1 NA18968.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0132 others(6): Show |
15 | 350 | 0.0429 | 6 | c.-7+ others(21): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKR1B15_chr7_134544110_134584869 | 134583222 | C | CAAAACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0098 a0001c0002t0001g0006 a0001c0002t0001g0008 others(76): Show |
116 | 402 | 0.2886 | 6 | c.*36 others(17): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 3354 | chr7 | TogoVar | |||||||
AKR1B1_chr7_134437356_134464100 | 134461142 | A | AACACAC | upstream_gene_variant | MODIFIER | HG01978.hp2 HG03017.hp2 NA18992.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0079 others(2): Show |
5 | 100 | 0.0500 | 6 | c.-20 others(17): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | |||||||
AKR1C2_chr10_4982775_5008857 | 4996546 | T | TTATATA | intron_variant | MODIFIER | HG02080.hp2 NA18942.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0104 |
3 | 410 | 0.0073 | 6 | c.571 others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
AKR1C2_chr10_4982775_5008857 | 4996547 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(50): Show |
150 | 370 | 0.4054 | 6 | c.571 others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5106753 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(181): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0009others(1): Show | a0001c0001t0001a0003c0004t0001a0006c0009t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(51): Show |
184 | 425 | 0.4329 | 6 | c.930 others(21): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5107903 | A | AGAGAAG | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02055.hp2 others(6): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0012 a0002c0006t0001g0116 a0002c0006t0001g0117 |
9 | 436 | 0.0206 | 6 | c.*40 others(15): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 218 | chr10 | TogoVar |