| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AKAP12_chr6_151234967_151363559 | 151351677 | G | A | missense_variant | MODERATE | HG00673.hp2 HG01928.hp2 HG02004.hp1 others(28): Show |
a0003a0025a0027others(1): Show | a0003c0004a0003c0008a0003c0031others(3): Show | a0003c0004t0003a0003c0004t0007a0003c0004t0042others(6): Show | a0003c0004t0003g0006a0003c0004t0003g0007a0003c0004t0003g0008others(28): Show | 31 | 316 | 0.0981 | 0 | c.328 others(4): Show |
p.Val others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 3558/8466 | 3286/5349 | 1096/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151351935 | G | A | missense_variant | MODERATE | HG01256.hp2 HG01258.hp2 HG03942.hp2 |
a0012 | a0012c0018 | a0012c0018t0004 | a0012c0018t0004g0128a0012c0018t0004g0303a0012c0018t0004g0304 | 3 | 316 | 0.0095 | 0 | c.354 others(4): Show |
p.Ala others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 3816/8466 | 3544/5349 | 1182/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352044 | A | T | missense_variant | MODERATE | HG00597.hp1 HG00621.hp2 NA18975.hp1 |
a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0067a0013c0015t0002g0146a0013c0015t0002g0271 | 3 | 316 | 0.0095 | 0 | c.365 others(4): Show |
p.Lys others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 3925/8466 | 3653/5349 | 1218/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352131 | A | G | missense_variant | MODERATE | HG02602.hp1 | a0038 | a0038c0038 | a0038c0038t0002 | a0038c0038t0002g0046 | 1 | 316 | 0.0032 | 0 | c.374 others(4): Show |
p.Asp others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4012/8466 | 3740/5349 | 1247/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352247 | G | A | missense_variant | MODERATE | HG02622.hp1 NA19240.hp1 |
a0018 | a0018c0024 | a0018c0024t0006 | a0018c0024t0006g0206a0018c0024t0006g0247 | 2 | 316 | 0.0063 | 0 | c.385 others(4): Show |
p.Gly others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4128/8466 | 3856/5349 | 1286/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352278 | G | T | missense_variant | MODERATE | HG01981.hp1 | a0028 | a0028c0068 | a0028c0068t0001 | a0028c0068t0001g0316 | 1 | 316 | 0.0032 | 0 | c.388 others(4): Show |
p.Arg others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4159/8466 | 3887/5349 | 1296/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352454 | G | A | missense_variant | MODERATE | HG01099.hp1 HG01123.hp2 HG01169.hp2 others(28): Show |
a0004a0012a0016others(7): Show | a0004c0007a0004c0013a0004c0056others(10): Show | a0004c0007t0004a0004c0013t0004a0004c0013t0030others(13): Show | a0004c0007t0004g0091a0004c0007t0004g0098a0004c0007t0004g0099others(28): Show | 31 | 316 | 0.0981 | 0 | c.406 others(4): Show |
p.Glu others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4335/8466 | 4063/5349 | 1355/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151352736 | G | A | missense_variant | MODERATE | HG02109.hp1 HG02451.hp1 HG02896.hp2 others(8): Show |
a0011a0014a0020others(1): Show | a0011c0021a0011c0030a0014c0014others(3): Show | a0011c0021t0022a0011c0021t0049a0011c0030t0016others(6): Show | a0011c0021t0022g0024a0011c0021t0049g0019a0011c0030t0016g0017others(8): Show | 11 | 316 | 0.0348 | 0 | c.434 others(4): Show |
p.Ala others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4617/8466 | 4345/5349 | 1449/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151353061 | C | G | missense_variant | MODERATE | NA21309.hp1 | a0037 | a0037c0037 | a0037c0037t0002 | a0037c0037t0002g0032 | 1 | 316 | 0.0032 | 0 | c.467 others(4): Show |
p.Ala others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4942/8466 | 4670/5349 | 1557/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151353135 | G | A | missense_variant | MODERATE | HG01099.hp1 HG01123.hp2 HG01169.hp2 others(19): Show |
a0004a0012a0021others(2): Show | a0004c0007a0004c0013a0004c0056others(5): Show | a0004c0007t0004a0004c0013t0004a0004c0013t0030others(6): Show | a0004c0007t0004g0091a0004c0007t0004g0098a0004c0007t0004g0099others(19): Show | 22 | 316 | 0.0696 | 0 | c.474 others(4): Show |
p.Val others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 5016/8466 | 4744/5349 | 1582/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151353191 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
a0001a0005a0009others(7): Show | a0001c0002a0001c0003a0001c0011others(18): Show | a0001c0002t0001a0001c0002t0014a0001c0002t0015others(29): Show | a0001c0002t0001g0021a0001c0002t0001g0027a0001c0002t0001g0050others(121): Show | 124 | 316 | 0.3924 | 0 | c.480 others(4): Show |
p.Glu others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 5072/8466 | 4800/5349 | 1600/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151353458 | G | T | missense_variant | MODERATE | HG00423.hp1 HG00673.hp2 HG01928.hp2 others(62): Show |
a0003a0006a0007others(10): Show | a0003c0004a0003c0008a0003c0031others(18): Show | a0003c0004t0003a0003c0004t0007a0003c0004t0042others(30): Show | a0003c0004t0003g0006a0003c0004t0003g0007a0003c0004t0003g0008others(62): Show | 65 | 316 | 0.2057 | 0 | c.506 others(4): Show |
p.Glu others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 5339/8466 | 5067/5349 | 1689/1782 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151353589 | C | A | missense_variant | MODERATE | HG04228.hp2 | a0029 | a0029c0054 | a0029c0054t0001 | a0029c0054t0001g0195 | 1 | 316 | 0.0032 | 0 | c.519 others(4): Show |
p.Pro others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 5470/8466 | 5198/5349 | 1733/1782 | chr6 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85533655 | G | T | missense_variant | MODERATE | HG00609.hp1 | a0043 | a0043c0069 | a0043c0069t0002 | a0043c0069t0002g0253 | 1 | 314 | 0.0032 | 0 | c.253 others(3): Show |
p.Ala others(5): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 4/37 | 460/13327 | 253/8442 | 85/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85533842 | C | T | missense_variant | MODERATE | NA19091.hp2 | a0021 | a0021c0068 | a0021c0068t0081 | a0021c0068t0081g0205 | 1 | 314 | 0.0032 | 0 | c.440 others(3): Show |
p.Thr others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 4/37 | 647/13327 | 440/8442 | 147/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85533866 | A | G | missense_variant | MODERATE | HG01891.hp1 NA21309.hp1 |
a0041a0042 | a0041c0066a0042c0067 | a0041c0066t0029a0042c0067t0029 | a0041c0066t0029g0237a0042c0067t0029g0236 | 2 | 314 | 0.0064 | 0 | c.464 others(3): Show |
p.Asp others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 4/37 | 671/13327 | 464/8442 | 155/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85543861 | C | T | missense_variant | MODERATE | HG00423.hp1 NA18990.hp1 NA19056.hp2 |
a0022a0023a0024 | a0022c0064a0023c0063a0024c0065 | a0022c0064t0005a0023c0063t0003a0024c0065t0004 | a0022c0064t0005g0165a0023c0063t0003g0163a0024c0065t0004g0178 | 3 | 314 | 0.0096 | 0 | c.568 others(3): Show |
p.Arg others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/37 | 775/13327 | 568/8442 | 190/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85543864 | G | A | missense_variant | MODERATE | HG01175.hp2 HG02004.hp2 |
a0020 | a0020c0029a0020c0030 | a0020c0029t0001a0020c0030t0001 | a0020c0029t0001g0015a0020c0030t0001g0289 | 2 | 314 | 0.0064 | 0 | c.571 others(3): Show |
p.Gly others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/37 | 778/13327 | 571/8442 | 191/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85543868 | C | T | missense_variant | MODERATE | NA18906.hp1 | a0040 | a0040c0062 | a0040c0062t0013 | a0040c0062t0013g0074 | 1 | 314 | 0.0032 | 0 | c.575 others(3): Show |
p.Ala others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/37 | 782/13327 | 575/8442 | 192/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85575294 | A | G | missense_variant | MODERATE | NA18994.hp1 | a0039 | a0039c0061 | a0039c0061t0002 | a0039c0061t0002g0255 | 1 | 314 | 0.0032 | 0 | c.826 others(3): Show |
p.Ile others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 6/37 | 1033/13327 | 826/8442 | 276/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579054 | G | A | missense_variant | MODERATE | NA19067.hp2 | a0025 | a0025c0031 | a0025c0031t0001 | a0025c0031t0001g0200 | 1 | 314 | 0.0032 | 0 | c.986 others(3): Show |
p.Arg others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1193/13327 | 986/8442 | 329/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579060 | C | T | missense_variant | MODERATE | HG02647.hp1 | a0026 | a0026c0060 | a0026c0060t0011 | a0026c0060t0011g0206 | 1 | 314 | 0.0032 | 0 | c.992 others(3): Show |
p.Ser others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1199/13327 | 992/8442 | 331/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579068 | G | A | missense_variant | MODERATE | HG02280.hp1 NA19240.hp2 |
a0019 | a0019c0020 | a0019c0020t0015 | a0019c0020t0015g0216a0019c0020t0015g0217 | 2 | 314 | 0.0064 | 0 | c.100 others(4): Show |
p.Glu others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1207/13327 | 1000/8442 | 334/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579083 | A | T | missense_variant | MODERATE | NA19091.hp2 | a0021 | a0021c0068 | a0021c0068t0081 | a0021c0068t0081g0205 | 1 | 314 | 0.0032 | 0 | c.101 others(4): Show |
p.Thr others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1222/13327 | 1015/8442 | 339/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579194 | G | A | missense_variant | MODERATE | NA21309.hp1 | a0041 | a0041c0066 | a0041c0066t0029 | a0041c0066t0029g0237 | 1 | 314 | 0.0032 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1333/13327 | 1126/8442 | 376/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579423 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.135 others(4): Show |
p.Met others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1562/13327 | 1355/8442 | 452/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579548 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(190): Show |
a0002a0003a0004others(27): Show | a0002c0001a0002c0017a0002c0028others(37): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(72): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(190): Show | 193 | 314 | 0.6147 | 0 | c.148 others(4): Show |
p.Trp others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1687/13327 | 1480/8442 | 494/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579644 | A | C | missense_variant | MODERATE | HG00323.hp1 HG00741.hp1 HG01175.hp1 others(2): Show |
a0010 | a0010c0014 | a0010c0014t0018a0010c0014t0059 | a0010c0014t0018g0264a0010c0014t0018g0299a0010c0014t0018g0302others(2): Show | 5 | 314 | 0.0159 | 0 | c.157 others(4): Show |
p.Lys others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1783/13327 | 1576/8442 | 526/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579788 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.172 others(4): Show |
p.Arg others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1927/13327 | 1720/8442 | 574/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579818 | C | A | missense_variant | MODERATE | NA18940.hp2 | a0031 | a0031c0034 | a0031c0034t0007 | a0031c0034t0007g0191 | 1 | 314 | 0.0032 | 0 | c.175 others(4): Show |
p.Gln others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1957/13327 | 1750/8442 | 584/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579854 | A | G | missense_variant | MODERATE | HG02280.hp2 HG02572.hp1 HG02717.hp1 others(5): Show |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0056a0007c0010t0066 | a0007c0010t0001g0078a0007c0010t0001g0091a0007c0010t0001g0092others(5): Show | 8 | 314 | 0.0255 | 0 | c.178 others(4): Show |
p.Lys others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 1993/13327 | 1786/8442 | 596/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85579939 | G | T | missense_variant | MODERATE | HG00099.hp2 HG00423.hp1 HG00642.hp2 others(17): Show |
a0005a0022a0023others(2): Show | a0005c0005a0005c0043a0022c0064others(3): Show | a0005c0005t0004a0005c0005t0032a0005c0005t0070others(7): Show | a0005c0005t0004g0012a0005c0005t0004g0114a0005c0005t0004g0115others(17): Show | 20 | 314 | 0.0637 | 0 | c.187 others(4): Show |
p.Gly others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2078/13327 | 1871/8442 | 624/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85580133 | G | A | missense_variant | MODERATE | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
a0008 | a0008c0009 | a0008c0009t0009 | a0008c0009t0009g0026a0008c0009t0009g0059a0008c0009t0009g0075others(5): Show | 8 | 314 | 0.0255 | 0 | c.206 others(4): Show |
p.Glu others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2272/13327 | 2065/8442 | 689/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85580578 | C | T | missense_variant | MODERATE | HG03704.hp2 | a0027 | a0027c0058 | a0027c0058t0006 | a0027c0058t0006g0010 | 1 | 314 | 0.0032 | 0 | c.251 others(4): Show |
p.Thr others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2717/13327 | 2510/8442 | 837/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85580602 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.253 others(4): Show |
p.Val others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2741/13327 | 2534/8442 | 845/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85580701 | C | T | missense_variant | MODERATE | NA18983.hp2 NA19002.hp1 |
a0016 | a0016c0024 | a0016c0024t0003 | a0016c0024t0003g0121a0016c0024t0003g0123 | 2 | 314 | 0.0064 | 0 | c.263 others(4): Show |
p.Pro others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2840/13327 | 2633/8442 | 878/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85580757 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 2896/13327 | 2689/8442 | 897/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85581252 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.318 others(4): Show |
p.Pro others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 3391/13327 | 3184/8442 | 1062/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85581324 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
a0002a0003a0004others(26): Show | a0002c0001a0002c0017a0002c0028others(36): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(70): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(185): Show | 188 | 314 | 0.5987 | 0 | c.325 others(4): Show |
p.Asp others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 3463/13327 | 3256/8442 | 1086/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85581385 | A | G | missense_variant | MODERATE | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(38): Show |
a0003a0016a0018others(2): Show | a0003c0003a0003c0016a0016c0024others(3): Show | a0003c0003t0003a0003c0003t0008a0003c0003t0024others(12): Show | a0003c0003t0003g0028a0003c0003t0003g0043a0003c0003t0003g0112others(38): Show | 41 | 314 | 0.1306 | 0 | c.331 others(4): Show |
p.Glu others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 3524/13327 | 3317/8442 | 1106/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85581481 | A | G | missense_variant | MODERATE | homoSapiens_chm13v2.hp1 | a0030 | a0030c0057 | a0030c0057t0054 | a0030c0057t0054g0142 | 1 | 314 | 0.0032 | 0 | c.341 others(4): Show |
p.Asp others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 3620/13327 | 3413/8442 | 1138/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85581715 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(186): Show |
a0002a0003a0004others(27): Show | a0002c0001a0002c0017a0002c0028others(37): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0011others(71): Show | a0002c0001t0002g0014a0002c0001t0002g0020a0002c0001t0002g0022others(186): Show | 189 | 314 | 0.6019 | 0 | c.364 others(4): Show |
p.Met others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 7/37 | 3854/13327 | 3647/8442 | 1216/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85655496 | C | T | missense_variant | MODERATE | NA18964.hp2 | a0036 | a0036c0042 | a0036c0042t0078 | a0036c0042t0078g0207 | 1 | 314 | 0.0032 | 0 | c.445 others(4): Show |
p.Ser others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 11/37 | 4661/13327 | 4454/8442 | 1485/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85655615 | A | G | missense_variant | MODERATE | HG02280.hp2 HG02572.hp1 HG02717.hp1 others(5): Show |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0056a0007c0010t0066 | a0007c0010t0001g0078a0007c0010t0001g0091a0007c0010t0001g0092others(5): Show | 8 | 314 | 0.0255 | 0 | c.457 others(4): Show |
p.Ser others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 11/37 | 4780/13327 | 4573/8442 | 1525/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85664694 | T | C | missense_variant | MODERATE | HG01496.hp1 HG02897.hp1 NA19043.hp2 |
a0014a0028 | a0014c0026a0028c0048 | a0014c0026t0026a0028c0048t0013 | a0014c0026t0026g0108a0014c0026t0026g0228a0028c0048t0013g0281 | 3 | 314 | 0.0096 | 0 | c.493 others(4): Show |
p.Val others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 13/37 | 5138/13327 | 4931/8442 | 1644/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85730514 | A | C | missense_variant others(1): Show |
MODERATE | HG03704.hp2 | a0027 | a0027c0058 | a0027c0058t0006 | a0027c0058t0006g0010 | 1 | 314 | 0.0032 | 0 | c.708 others(4): Show |
p.Glu others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 30/37 | 7296/13327 | 7089/8442 | 2363/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85730523 | C | A | missense_variant | MODERATE | HG02258.hp1 HG02897.hp1 NA19043.hp2 others(1): Show |
a0014a0034a0035 | a0014c0026a0034c0040a0035c0036 | a0014c0026t0026a0034c0040t0080a0035c0036t0034 | a0014c0026t0026g0108a0014c0026t0026g0228a0034c0040t0080g0230others(1): Show | 4 | 314 | 0.0127 | 0 | c.709 others(4): Show |
p.His others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 30/37 | 7305/13327 | 7098/8442 | 2366/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85730600 | C | G | missense_variant | MODERATE | HG02559.hp1 NA20300.hp1 |
a0017 | a0017c0022 | a0017c0022t0028 | a0017c0022t0028g0201a0017c0022t0028g0202 | 2 | 314 | 0.0064 | 0 | c.717 others(4): Show |
p.Pro others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 30/37 | 7382/13327 | 7175/8442 | 2392/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85735078 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00423.hp1 HG00642.hp2 others(21): Show |
a0005a0012a0015others(2): Show | a0005c0005a0005c0043a0012c0015others(4): Show | a0005c0005t0004a0005c0005t0032a0005c0005t0070others(8): Show | a0005c0005t0004g0012a0005c0005t0004g0114a0005c0005t0004g0115others(21): Show | 24 | 314 | 0.0764 | 0 | c.736 others(4): Show |
p.Gly others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 31/37 | 7576/13327 | 7369/8442 | 2457/2813 | chr15 | TogoVar | ||
| AKAP13_chr15_85375603_85754355 | 85735580 | G | A | missense_variant | MODERATE | HG02109.hp1 | a0033 | a0033c0037 | a0033c0037t0010 | a0033c0037t0010g0104 | 1 | 314 | 0.0032 | 0 | c.746 others(4): Show |
p.Asp others(7): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 32/37 | 7669/13327 | 7462/8442 | 2488/2813 | chr15 | TogoVar |