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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69508097 | T | C | intron_variant | MODIFIER | HG01243.hp1 HG06807.hp1 NA18906.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0026 | a0001c0001t0014a0009c0026t0152 | a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0014g0066 others(1): Show |
4 | 298 | 0.0134 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69508549 | A | G | intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0020 | a0003c0020t0084 | a0003c0020t0084g0105 | 1 | 298 | 0.0034 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69508611 | C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003 | a0002c0002a0002c0015a0002c0024others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show |
88 | 298 | 0.2953 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69508620 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003 | a0002c0002a0002c0015a0002c0024others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show |
88 | 298 | 0.2953 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69508804 | A | G | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0004 | a0004c0012 | a0004c0012t0036a0004c0012t0061 | a0004c0012t0036g0283 a0004c0012t0061g0067 |
2 | 298 | 0.0067 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69508914 | C | T | intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0151 | a0003c0021t0151g0281 | 1 | 298 | 0.0034 | 0 | c.200 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69509429 | A | G | missense_variant | MODERATE | HG01106.hp1 HG01952.hp2 HG01981.hp1 |
a0005 | a0005c0010 | a0005c0010t0010 | a0005c0010t0010g0123 a0005c0010t0010g0142 a0005c0010t0010g0153 |
3 | 298 | 0.0101 | 0 | c.180 others(4): Show |
p.Val others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/22 | 2207/21157 | 1808/2886 | 603/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69509655 | T | A | intron_variant | MODIFIER | NA18956.hp1 NA18963.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0138 | a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0138g0209 |
3 | 298 | 0.0101 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69509841 | T | C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0005a0002c0016 | a0002c0005t0018a0002c0005t0100a0002c0016t0103 | a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 others(2): Show |
5 | 298 | 0.0168 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69509922 | A | G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510034 | G | A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0108 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510071 | T | C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0124 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510247 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0015others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(99): Show |
102 | 298 | 0.3423 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510816 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003 | a0002c0002a0002c0015a0002c0024others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show |
88 | 298 | 0.2953 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510842 | G | T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0135 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69510961 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003 | a0002c0002a0002c0015a0002c0024others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show |
88 | 298 | 0.2953 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511380 | A | T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511479 | C | T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0278 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511498 | T | C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0186 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511641 | T | C | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0004 | a0004c0012 | a0004c0012t0036a0004c0012t0061 | a0004c0012t0036g0283 a0004c0012t0061g0067 |
2 | 298 | 0.0067 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511658 | T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(104): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(61): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(104): Show |
107 | 298 | 0.3591 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511857 | A | G | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126 a0001c0006t0028g0134 a0001c0006t0041g0008 others(1): Show |
4 | 298 | 0.0134 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511900 | A | G | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0005a0002c0016 | a0002c0005t0018a0002c0005t0100a0002c0016t0103 | a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 others(2): Show |
5 | 298 | 0.0168 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69511988 | G | C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0073 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512033 | A | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(55): Show |
a0001a0009a0010 | a0001c0001a0009c0026a0010c0027 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(24): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(55): Show |
58 | 298 | 0.1946 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512039 | A | T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0015 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512287 | A | G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02572.hp1 others(5): Show |
a0002a0003 | a0002c0005a0002c0016a0002c0019others(1): Show | a0002c0005t0040a0002c0005t0122a0002c0005t0123others(4): Show | a0002c0005t0040g0006 a0002c0005t0122g0182 a0002c0005t0123g0183 others(5): Show |
8 | 298 | 0.0269 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512543 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004 | a0002c0002a0002c0005a0002c0015others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(101): Show |
104 | 298 | 0.3490 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512582 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(38): Show |
a0001a0005a0006 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(26): Show | a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(38): Show |
41 | 298 | 0.1376 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512596 | T | C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0058 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512690 | C | T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0188 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512725 | A | G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0078 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512805 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0070a0001c0008t0097 | a0001c0004t0070g0071 a0001c0008t0097g0131 |
2 | 298 | 0.0067 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69512959 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(117): Show | a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(208): Show |
211 | 298 | 0.7081 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513095 | G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004 | a0002c0002a0002c0005a0002c0015others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(101): Show |
104 | 298 | 0.3490 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513147 | T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0015others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(99): Show |
102 | 298 | 0.3423 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513191 | A | G | intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0020 | a0003c0020t0084 | a0003c0020t0084g0105 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513234 | C | T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02572.hp1 others(5): Show |
a0002a0003 | a0002c0005a0002c0016a0002c0019others(1): Show | a0002c0005t0040a0002c0005t0122a0002c0005t0123others(4): Show | a0002c0005t0040g0006 a0002c0005t0122g0182 a0002c0005t0123g0183 others(5): Show |
8 | 298 | 0.0269 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513260 | T | C | intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 298 | 0.0034 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513279 | T | C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02572.hp1 others(5): Show |
a0002a0003 | a0002c0005a0002c0016a0002c0019others(1): Show | a0002c0005t0040a0002c0005t0122a0002c0005t0123others(4): Show | a0002c0005t0040g0006 a0002c0005t0122g0182 a0002c0005t0123g0183 others(5): Show |
8 | 298 | 0.0269 | 0 | c.177 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513477 | G | A | intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0013 | a0004c0013t0107 | a0004c0013t0107g0107 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513516 | G | A | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0105a0001c0007t0021a0001c0007t0034others(5): Show | a0001c0001t0105g0108 a0001c0007t0021g0276 a0001c0007t0021g0279 others(6): Show |
9 | 298 | 0.0302 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513575 | G | A | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0004 | a0004c0012 | a0004c0012t0036a0004c0012t0061 | a0004c0012t0036g0283 a0004c0012t0061g0067 |
2 | 298 | 0.0067 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513633 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004 | a0002c0002a0002c0005a0002c0015others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(101): Show |
104 | 298 | 0.3490 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69513845 | C | T | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0012 | a0004c0012t0036 | a0004c0012t0036g0283 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69514072 | A | C | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0054 | a0002c0002t0054g0030 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69514144 | C | T | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0251 | 1 | 298 | 0.0034 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69514334 | G | A | intron_variant | MODIFIER | HG01167.hp1 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0078a0004c0013t0107 | a0001c0001t0078g0055 a0004c0013t0107g0107 |
2 | 298 | 0.0067 | 0 | c.177 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69514477 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003 | a0002c0002a0002c0015a0002c0024others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show |
88 | 298 | 0.2953 | 0 | c.177 others(4): Show |
p.Glu others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 2169/21157 | 1770/2886 | 590/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69514503 | C | T | missense_variant | MODERATE | HG03540.hp1 | a0008 | a0008c0023 | a0008c0023t0008 | a0008c0023t0008g0083 | 1 | 298 | 0.0034 | 0 | c.174 others(4): Show |
p.Ala others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 2143/21157 | 1744/2886 | 582/961 | chr2 | TogoVar |