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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP13_chr15_85375603_85754355 | 85641445 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01243.hp1 others(37): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0012a0001c0052others(14): Show | a0001c0002t0008a0001c0002t0010a0001c0012t0023others(19): Show | a0001c0002t0008g0034a0001c0002t0008g0180a0001c0002t0008g0284others(37): Show | 40 | 314 | 0.1274 | -16 | c.423 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85736421 | TTTTGTTT others(9): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 |
a0013 | a0013c0025 | a0013c0025t0005 | a0013c0025t0005g0089a0013c0025t0005g0212 | 2 | 314 | 0.0064 | -16 | c.755 others(33): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP14_chrX_119890893_119925716 | 119894011 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0210a0001c0001t0001g0211others(9): Show | 14 | 304 | 0.0461 | -16 | c.-20 others(27): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 1881 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1589071 | TCCCCTCC others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 151 | 0.0066 | -16 | c.-27 others(27): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2532 | chrX | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624315 | ACGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(101): Show |
a0001 | a0001c0001a0001c0006a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 104 | 418 | 0.2488 | -16 | c.240 others(35): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624316 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02818.hp1 others(1): Show |
a0001a0010 | a0001c0002a0010c0012 | a0001c0002t0001a0010c0012t0001 | a0001c0002t0001g0176a0001c0002t0001g0177a0010c0012t0001g0174others(1): Show | 4 | 418 | 0.0096 | -16 | c.240 others(35): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32453575 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02738.hp1 HG02886.hp1 others(5): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0019a0005c0011others(5): Show | a0001c0001t0001a0001c0019t0001a0005c0011t0013others(5): Show | a0001c0001t0001g0029a0001c0019t0001g0143a0005c0011t0013g0051others(5): Show | 8 | 154 | 0.0520 | -16 | c.324 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32454725 | TTCCCTCC others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0044others(8): Show | a0001c0001t0001a0001c0001t0048a0002c0002t0001others(12): Show | a0001c0001t0001g0063a0001c0001t0048g0128a0002c0002t0001g0056others(13): Show | 16 | 154 | 0.1039 | -16 | c.324 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32454753 | CTCCCTCC others(9): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0036 | 1 | 154 | 0.0065 | -16 | c.324 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32593011 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 |
a0016a0027 | a0016c0022a0027c0030 | a0016c0022t0013a0027c0030t0001 | a0016c0022t0013g0044a0027c0030t0001g0154 | 2 | 154 | 0.0130 | -16 | c.247 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32687426 | CTCTCTCT others(9): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0006a0004c0007others(4): Show | a0001c0001t0001a0001c0006t0015a0001c0006t0017others(5): Show | a0001c0001t0001g0029a0001c0006t0015g0135a0001c0006t0017g0079others(6): Show | 9 | 154 | 0.0584 | -16 | c.288 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32728200 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 HG06807.hp1 others(1): Show |
a0001a0005a0012others(1): Show | a0001c0004a0005c0059a0012c0052others(1): Show | a0001c0004t0050a0005c0059t0010a0012c0052t0012others(1): Show | a0001c0004t0050g0146a0005c0059t0010g0028a0012c0052t0012g0141others(1): Show | 4 | 154 | 0.0260 | -16 | c.300 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32818750 | GCCACTTG others(9): Show |
G | intron_variant | MODIFIER | HG02630.hp1 NA19043.hp1 NA21309.hp2 |
a0004a0007 | a0004c0007a0007c0053 | a0004c0007t0006a0007c0053t0019 | a0004c0007t0006g0072a0004c0007t0006g0101a0007c0053t0019g0071 | 3 | 154 | 0.0195 | -16 | c.358 others(35): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828525 | TCTCTCAC others(9): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01109.hp1 others(7): Show |
a0002a0017a0021 | a0002c0002a0002c0009a0002c0044others(3): Show | a0002c0002t0001a0002c0002t0042a0002c0009t0001others(4): Show | a0002c0002t0001g0010a0002c0002t0001g0046a0002c0002t0001g0052others(7): Show | 10 | 154 | 0.0649 | -16 | c.*43 others(33): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32829242 | TATGTACC others(9): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02602.hp1 HG02738.hp2 others(2): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0004c0013others(2): Show | a0001c0001t0017a0001c0006t0017a0004c0013t0008others(2): Show | a0001c0001t0017g0112a0001c0006t0017g0079a0004c0013t0008g0138others(2): Show | 5 | 154 | 0.0325 | -16 | c.*43 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131161644 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18970.hp1 NA18991.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0033a0001c0001t0004g0035a0001c0001t0006g0284 | 3 | 304 | 0.0099 | -16 | c.291 others(33): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(36): Show | 39 | 304 | 0.1283 | -16 | c.850 others(35): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131253659 | CTTATTTA others(9): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0162 | 1 | 304 | 0.0033 | -16 | c.851 others(35): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP8L_chr19_15375050_15423988 | 15400089 | CACAGCCT others(9): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 254 | 0.0039 | -16 | c.104 others(33): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15361410 | GTGCAATC others(9): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 286 | 0.0035 | -16 | c.139 others(33): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15364057 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0153others(1): Show | 4 | 286 | 0.0140 | -16 | c.116 others(35): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91963482 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0192 | 1 | 306 | 0.0033 | -16 | c.49- others(33): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91982166 | CGTATGTA others(9): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 306 | 0.0033 | -16 | c.351 others(33): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 3/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91998418 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0205 | 1 | 306 | 0.0033 | -16 | c.931 others(33): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 7/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92061584 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00597.hp2 NA18970.hp1 NA18984.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0071others(2): Show | 5 | 306 | 0.0163 | -16 | c.576 others(33): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 23/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIRIN1_chr1_38986276_39011059 | 38987489 | CTTATTTA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02717.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0008 | a0001c0001t0001g0023a0001c0001t0003g0072a0001c0002t0008g0010 | 8 | 426 | 0.0188 | -16 | c.-38 others(27): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3786 | chr1 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87677014 | TTGCAGTG others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0058 | 1 | 406 | 0.0025 | -16 | c.529 others(31): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87684076 | AAGAGGTA others(9): Show |
A | intron_variant | MODIFIER | HG02135.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0170 | 2 | 406 | 0.0049 | -16 | c.236 others(33): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114360656 | TCCTACCA others(9): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03579.hp2 NA19043.hp1 |
a0015 | a0015c0019 | a0015c0019t0006 | a0015c0019t0006g0006a0015c0019t0006g0028 | 3 | 388 | 0.0077 | -16 | c.212 others(33): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 9/21 | chr9 | TogoVar | ||||||
AKR1B15_chr7_134544110_134584869 | 134562832 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0051a0001c0001t0001g0104a0001c0001t0001g0220others(15): Show | 25 | 404 | 0.0619 | -16 | c.-22 others(33): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1C3_chr10_5089414_5112686 | 5107753 | AGTGTGTG others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(124): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0014a0002c0003others(3): Show | a0001c0001t0002a0001c0014t0002a0002c0003t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0016others(37): Show | 127 | 438 | 0.2900 | -16 | c.*25 others(25): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 68 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5180465 | AGCTCCAG others(9): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03471.hp1 |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0164a0004c0005t0004g0220 | 2 | 408 | 0.0049 | -16 | c.93+ others(31): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138101149 | TTCCCTCC others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02630.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0064 | a0001c0001t0002g0184a0001c0001t0015g0355a0001c0001t0015g0356others(3): Show | 6 | 426 | 0.0141 | -16 | c.456 others(33): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138101179 | CCCTCCCT others(9): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01167.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0003 | a0001c0001t0001a0007c0003t0001 | a0001c0001t0001g0035a0001c0001t0001g0249a0001c0001t0001g0281others(4): Show | 8 | 426 | 0.0188 | -16 | c.456 others(33): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138101183 | CCCTCCCT others(9): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02622.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0021a0001c0001t0042others(1): Show | a0001c0001t0002g0183a0001c0001t0021g0349a0001c0001t0021g0350others(3): Show | 6 | 426 | 0.0141 | -16 | c.456 others(33): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138101187 | CCCTCCCT others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0347 | 1 | 426 | 0.0024 | -16 | c.456 others(33): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138116053 | CTATAATC others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0308 | 1 | 426 | 0.0024 | -16 | c.939 others(31): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19299305 | GGGTGCCT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0061a0001c0001t0001g0150 | 12 | 460 | 0.0261 | -16 | c.*49 others(27): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4659 | chr1 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19316353 | TTGTGTGT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 4 | 460 | 0.0087 | -16 | c.-42 others(27): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 301 | 0.0033 | -16 | c.125 others(37): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0203a0001c0001t0001g0206 | 3 | 301 | 0.0100 | -16 | c.125 others(37): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527922 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01257.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0137a0001c0001t0001g0142others(15): Show | 18 | 301 | 0.0598 | -16 | c.125 others(37): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243649313 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02129.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0042a0001c0001t0001g0129a0001c0001t0030g0152 | 3 | 301 | 0.0100 | -16 | c.285 others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 301 | 0.0033 | -16 | c.172 others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693243 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0083a0001c0001t0001g0090others(6): Show | 9 | 301 | 0.0299 | -16 | c.172 others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243832120 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp1 HG01257.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0137others(25): Show | 28 | 301 | 0.0930 | -16 | c.46+ others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243853217 | GTTTTTTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0049 | a0001c0001t0015g0027a0001c0001t0049g0284 | 2 | 301 | 0.0066 | -16 | c.-33 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2975 | chr1 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52193983 | AAAAGAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024others(10): Show | 32 | 354 | 0.0904 | -16 | c.-44 others(27): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4176 | chr3 | TogoVar | ||||||
ALB_chr4_73399287_73426482 | 73400313 | ATGTCCAG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(189): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0042a0001c0001t0001g0044others(46): Show | 192 | 392 | 0.4898 | -16 | c.-40 others(27): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 3973 | chr4 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49460404 | GTTTTTGT others(9): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0032 | a0002c0032t0002 | a0002c0032t0002g0130 | 1 | 342 | 0.0029 | -16 | c.500 others(31): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |