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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AK4_chr1_65143203_65237145 | 65152360 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA19076.hp2 NA19091.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0003 | a0001c0001t0013g0244 a0001c0002t0003g0267 |
2 | 221 | 0.0090 | 14 | c.145 others(31): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65152360 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0250 | 1 | 220 | 0.0045 | 14 | c.145 others(31): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172063 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0008others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0093 a0001c0001t0001g0107 others(7): Show |
10 | 68 | 0.1471 | 14 | c.146 others(33): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65215160 | T | TTTTCTTT others(7): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0254 | 1 | 293 | 0.0034 | 14 | c.266 others(31): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77324980 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19011.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0202 a0002c0002t0002g0206 |
2 | 155 | 0.0129 | 14 | c.700 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77355868 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0008 | a0001c0001t0004g0093 a0002c0002t0008g0109 |
2 | 28 | 0.0714 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77357992 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02129.hp2 HG02132.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0121 a0001c0001t0003g0149 a0001c0001t0003g0184 others(3): Show |
6 | 230 | 0.0261 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0106 | 1 | 75 | 0.0133 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18969.hp1 NA19060.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0002c0002t0002g0082 others(1): Show |
4 | 78 | 0.0513 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0013 | a0001c0003t0004g0254 a0002c0002t0013g0197 |
2 | 76 | 0.0263 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367579 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18522.hp1 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0102 a0001c0001t0001g0104 a0002c0002t0002g0270 |
3 | 157 | 0.0191 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367838 | T | TATATATT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01496.hp2 HG01978.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0074 others(14): Show |
17 | 225 | 0.0756 | 14 | c.891 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02602.hp2 HG02809.hp1 others(2): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0002t0011a0002c0002t0016others(1): Show | a0002c0002t0002g0054 a0002c0002t0011g0141 a0002c0002t0016g0126 others(2): Show |
5 | 179 | 0.0279 | 14 | c.892 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475195 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 243 | 0.0041 | 14 | c.106 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77477003 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0125 | 1 | 46 | 0.0217 | 14 | c.106 others(33): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 31 | 0.0323 | 14 | c.499 others(31): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96434422 | G | GTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0301 a0002c0002t0001g0167 |
2 | 63 | 0.0317 | 14 | c.610 others(31): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132765292 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 87 | 0.0115 | 14 | c.112 others(35): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109497362 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0285 | 1 | 164 | 0.0061 | 14 | c.531 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 38/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109500034 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02622.hp2 NA20300.hp1 |
a0001a0003a0004 | a0001c0006a0003c0001a0004c0005 | a0001c0006t0003a0003c0001t0001a0004c0005t0001 | a0001c0006t0003g0174 a0003c0001t0001g0289 a0004c0005t0001g0263 |
3 | 44 | 0.0682 | 14 | c.485 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 35/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109578847 | G | GTTTTGAG others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03041.hp2 |
a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0030 a0008c0013t0001g0089 a0008c0013t0001g0090 |
3 | 113 | 0.0265 | 14 | c.219 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109578847 | G | GTTTTGAG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0003a0004others(6): Show | a0001c0003a0001c0004a0001c0006others(14): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(15): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(257): Show |
263 | 373 | 0.7051 | 14 | c.219 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109623862 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03516.hp1 NA20300.hp1 |
a0001a0004 | a0001c0003a0001c0006a0004c0005 | a0001c0003t0001a0001c0006t0003a0004c0005t0001 | a0001c0003t0001g0021 a0001c0006t0003g0174 a0004c0005t0001g0278 |
3 | 119 | 0.0252 | 14 | c.125 others(33): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 12/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109636750 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00639.hp2 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0006a0001c0021others(6): Show | a0001c0003t0001a0001c0006t0003a0001c0021t0001others(6): Show | a0001c0003t0001g0020 a0001c0003t0001g0158 a0001c0003t0001g0159 others(42): Show |
45 | 102 | 0.4412 | 14 | c.934 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109679345 | T | TCCAACTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(107): Show |
a0002a0005a0006others(6): Show | a0002c0002a0002c0007a0002c0008others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0007t0002others(12): Show | a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 others(107): Show |
110 | 376 | 0.2926 | 14 | c.-11 others(31): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109695589 | C | CACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0284 a0004c0005t0001g0285 |
2 | 376 | 0.0053 | 14 | c.-44 others(25): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 4388 | chr6 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5192447 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 415 | 0.0024 | 14 | c.16+ others(29): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19914628 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18944.hp2 NA18957.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0008 | a0003c0003t0005g0242 a0003c0003t0005g0243 a0003c0003t0005g0244 others(6): Show |
9 | 162 | 0.0556 | 14 | c.183 others(33): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
AKAP11_chr13_42267152_42328261 | 42319906 | G | GGTGTGTG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01070.hp2 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0033a0001c0001t0063others(1): Show | a0001c0001t0014g0002 a0001c0001t0014g0013 a0001c0001t0014g0019 others(10): Show |
14 | 40 | 0.3500 | 14 | c.*70 others(23): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 13/13 | 723 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151256948 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02451.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0008others(2): Show | a0001c0002a0002c0039a0008c0016others(2): Show | a0001c0002t0001a0002c0039t0013a0008c0016t0009others(2): Show | a0001c0002t0001g0094 a0002c0039t0013g0089 a0008c0016t0009g0111 others(3): Show |
6 | 137 | 0.0438 | 14 | c.162 others(33): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151269748 | G | GTACAATT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0001 | 1 | 314 | 0.0032 | 14 | c.162 others(33): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151285384 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG04228.hp2 NA18953.hp1 others(2): Show |
a0001a0002a0018 | a0001c0002a0001c0003a0001c0054others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0054t0001others(2): Show | a0001c0002t0001g0164 a0001c0003t0001g0118 a0001c0054t0001g0195 others(2): Show |
5 | 18 | 0.2778 | 14 | c.163 others(33): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG03491.hp1 others(3): Show |
a0001a0004a0009others(1): Show | a0001c0002a0001c0003a0001c0011others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(3): Show | a0001c0002t0001g0205 a0001c0003t0001g0216 a0001c0011t0001g0267 others(3): Show |
6 | 23 | 0.2609 | 14 | c.163 others(31): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151345932 | T | TGTGAGAG others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0008 | a0008c0020 | a0008c0020t0009 | a0008c0020t0009g0030 | 1 | 211 | 0.0047 | 14 | c.320 others(31): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85380638 | G | GTGAAGCG others(7): Show |
5_prime_UTR_variant | MODIFIER | NA19091.hp2 | a0039 | a0039c0068 | a0039c0068t0081 | a0039c0068t0081g0205 | 1 | 312 | 0.0032 | 14 | c.-17 others(23): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/37 | 105067 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02148.hp1 HG02738.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0001a0004c0006others(1): Show | a0001c0004t0001a0002c0001t0002a0004c0006t0014others(1): Show | a0001c0004t0001g0193 a0002c0001t0002g0049 a0002c0001t0002g0168 others(2): Show |
5 | 15 | 0.3333 | 14 | c.34- others(31): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85546321 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG02257.hp1 |
a0005a0013 | a0005c0005a0013c0025 | a0005c0005t0004a0013c0025t0005 | a0005c0005t0004g0286 a0005c0005t0004g0287 a0013c0025t0005g0089 |
3 | 66 | 0.0455 | 14 | c.662 others(31): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85567941 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0124 | 1 | 51 | 0.0196 | 14 | c.663 others(31): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85601608 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02109.hp1 others(25): Show |
a0002a0004a0005others(8): Show | a0002c0001a0004c0013a0005c0005others(8): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(14): Show | a0002c0001t0002g0049 a0002c0001t0002g0185 a0002c0001t0002g0186 others(25): Show |
28 | 84 | 0.3333 | 14 | c.416 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85613691 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0036 | a0036c0064 | a0036c0064t0005 | a0036c0064t0005g0163 | 1 | 132 | 0.0076 | 14 | c.416 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85630234 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(30): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0019a0002c0001others(9): Show | a0001c0004t0001a0001c0004t0058a0001c0019t0069others(15): Show | a0001c0004t0001g0023 a0001c0004t0001g0172 a0001c0004t0001g0193 others(30): Show |
33 | 86 | 0.3837 | 14 | c.416 others(33): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85650755 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03688.hp2 HG04199.hp1 others(2): Show |
a0001a0005 | a0001c0004a0005c0005 | a0001c0004t0001a0001c0004t0064a0001c0004t0074others(2): Show | a0001c0004t0001g0044 a0001c0004t0064g0032 a0001c0004t0074g0170 others(2): Show |
5 | 27 | 0.1852 | 14 | c.437 others(33): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1588038 | T | TCTCCATC others(7): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 149 | 0.0067 | 14 | c.-37 others(25): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3565 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588233 | T | TCCTCCCT others(7): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0069 | 1 | 146 | 0.0068 | 14 | c.-35 others(25): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3370 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1589122 | C | CCCCTCCC others(7): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0054 | 1 | 149 | 0.0067 | 14 | c.-26 others(25): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2481 | chrX | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57083091 | A | AGAGAGAG others(7): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 93 | 0.0108 | 14 | c.-23 others(25): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 2154 | chr17 | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57083091 | A | AGAGAGAG others(7): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG03490.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0223 others(1): Show |
4 | 96 | 0.0417 | 14 | c.-23 others(25): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 2154 | chr17 | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57100428 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG06807.hp1 NA18953.hp1 others(2): Show |
a0003a0008a0011 | a0003c0008a0003c0013a0008c0020others(1): Show | a0003c0008t0005a0003c0013t0014a0008c0020t0036others(1): Show | a0003c0008t0005g0084 a0003c0013t0014g0082 a0003c0013t0014g0083 others(2): Show |
5 | 165 | 0.0303 | 14 | c.-24 others(31): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AKAP1_chr17_57080246_57126344 | 57119830 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19077.hp2 |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0001a0003c0013t0014 | a0001c0001t0001g0233 a0003c0013t0014g0082 |
2 | 126 | 0.0159 | 14 | c.263 others(31): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624809 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0071 | 1 | 206 | 0.0049 | 14 | c.240 others(33): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar |