| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1_chr2_69452997_69648739 | 69541471 | A | T | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 |
a0001a0002 | a0001c0004a0002c0019 | a0001c0004t0014a0002c0019t0065 | a0001c0004t0014g0063a0002c0019t0065g0062 | 2 | 298 | 0.0067 | 0 | c.534 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541704 | G | C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(5): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(6): Show | 9 | 298 | 0.0302 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541724 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(5): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(6): Show | 9 | 298 | 0.0302 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541755 | C | A | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0252 | 1 | 298 | 0.0034 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541825 | C | T | intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0151 | a0003c0021t0151g0282 | 1 | 298 | 0.0034 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541826 | G | A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0061 | 1 | 298 | 0.0034 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69541878 | T | C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0155 | a0002c0002t0155g0298 | 1 | 298 | 0.0034 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542162 | T | G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 | 1 | 298 | 0.0034 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542235 | C | T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0021a0001c0007t0034a0001c0007t0035others(1): Show | a0001c0007t0021g0276a0001c0007t0021g0279a0001c0007t0034g0270others(2): Show | 5 | 298 | 0.0168 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542385 | C | G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02572.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0014a0001c0007t0021a0001c0007t0034others(10): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(13): Show | 16 | 298 | 0.0537 | 0 | c.534 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542649 | G | A | synonymous_variant | LOW | HG06807.hp1 | a0001 | a0001c0026 | a0001c0026t0152 | a0001c0026t0152g0295 | 1 | 298 | 0.0034 | 0 | c.408 others(3): Show |
p.Asn others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/22 | 807/21157 | 408/2886 | 136/961 | chr2 | TogoVar | ||
| AAK1_chr2_69452997_69648739 | 69542731 | G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02280.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(13): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(16): Show | 19 | 298 | 0.0638 | 0 | c.392 others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542839 | T | C | intron_variant | MODIFIER | HG01099.hp2 NA18953.hp1 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0145 | a0002c0002t0005g0253a0002c0002t0145g0275 | 2 | 298 | 0.0067 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542845 | A | G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02818.hp1 others(2): Show |
a0001a0003 | a0001c0006a0003c0020 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(1): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(2): Show | 5 | 298 | 0.0168 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69542989 | G | A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0004 | a0001c0004t0146 | a0001c0004t0146g0273 | 1 | 298 | 0.0034 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543003 | A | G | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0063 | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0063g0288 | 3 | 298 | 0.0101 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543043 | C | T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0061 | 1 | 298 | 0.0034 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543061 | C | G | intron_variant | MODIFIER | HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012a0001c0001t0008g0013 | 2 | 298 | 0.0067 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543255 | T | C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 298 | 0.0034 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543467 | G | A | intron_variant | MODIFIER | HG01928.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
a0001a0002a0003 | a0001c0004a0002c0016a0002c0019others(1): Show | a0001c0004t0014a0002c0016t0103a0002c0019t0065others(1): Show | a0001c0004t0014g0063a0002c0016t0103g0106a0002c0019t0065g0062others(1): Show | 4 | 298 | 0.0134 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543524 | C | T | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0087 | 1 | 298 | 0.0034 | 0 | c.392 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543558 | C | A | intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0253 | 1 | 298 | 0.0034 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543610 | G | T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0009 | a0001c0009t0141 | a0001c0009t0141g0191 | 1 | 298 | 0.0034 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69543702 | G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02280.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(14): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(17): Show | 20 | 298 | 0.0671 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544026 | C | T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0287 | 1 | 298 | 0.0034 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544199 | T | G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0048 | 1 | 298 | 0.0034 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544265 | C | A | intron_variant | MODIFIER | NA18956.hp1 NA18963.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0138 | a0001c0001t0020g0193a0001c0001t0020g0202a0001c0001t0020g0208others(1): Show | 4 | 298 | 0.0134 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544266 | G | A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0021others(22): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0014g0059others(26): Show | 29 | 298 | 0.0973 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544332 | A | T | intron_variant | MODIFIER | HG01167.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0078a0001c0003t0081 | a0001c0001t0078g0055a0001c0003t0081g0080 | 2 | 298 | 0.0067 | 0 | c.391 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544352 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(116): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(205): Show | 208 | 298 | 0.6980 | 0 | c.391 others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69544478 | C | T | missense_variant | MODERATE | HG02132.hp2 NA19006.hp2 |
a0007 | a0007c0017a0007c0018 | a0007c0017t0066a0007c0018t0002 | a0007c0017t0066g0076a0007c0018t0002g0165 | 2 | 298 | 0.0067 | 0 | c.349 others(3): Show |
p.Gly others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/22 | 748/21157 | 349/2886 | 117/961 | chr2 | TogoVar | ||
| AAK1_chr2_69452997_69648739 | 69544893 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(4): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(5): Show | 8 | 298 | 0.0269 | 0 | c.283 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545171 | T | G | intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0151 | a0003c0021t0151g0282 | 1 | 298 | 0.0034 | 0 | c.283 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545236 | T | C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0089 | 1 | 298 | 0.0034 | 0 | c.283 others(7): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545607 | A | C | intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0151 | a0003c0021t0151g0282 | 1 | 298 | 0.0034 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545690 | T | C | intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0115 | a0002c0002t0115g0180 | 1 | 298 | 0.0034 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545783 | T | C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0087 | 1 | 298 | 0.0034 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545794 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0011a0001c0026others(1): Show | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(6): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(8): Show | 11 | 298 | 0.0369 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69545953 | G | A | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01891.hp2 others(28): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0037a0001c0001t0077a0001c0003t0012others(20): Show | a0001c0001t0037g0009a0001c0001t0077g0072a0001c0003t0012g0088others(28): Show | 31 | 298 | 0.1040 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69546110 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(78): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(122): Show | 125 | 298 | 0.4195 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69546148 | A | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(4): Show | 7 | 298 | 0.0235 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69546641 | C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(115): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(201): Show | 204 | 298 | 0.6846 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69546725 | C | A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(4): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(5): Show | 8 | 298 | 0.0269 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547109 | C | T | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0004 | a0004c0012 | a0004c0012t0036a0004c0012t0061 | a0004c0012t0036g0283a0004c0012t0061g0067 | 2 | 298 | 0.0067 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547177 | G | A | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0045a0004c0013t0043 | a0001c0001t0045g0287a0004c0013t0043g0284 | 2 | 298 | 0.0067 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547220 | T | C | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp1 |
a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0017a0001c0006t0016g0289 | 2 | 298 | 0.0067 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547221 | A | G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0011 | a0001c0011t0029a0001c0011t0079 | a0001c0011t0029g0293a0001c0011t0029g0294a0001c0011t0079g0290 | 3 | 298 | 0.0101 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547338 | A | G | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 |
a0001a0002 | a0001c0004a0002c0019 | a0001c0004t0014a0002c0019t0065 | a0001c0004t0014g0063a0002c0019t0065g0062 | 2 | 298 | 0.0067 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547370 | G | A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0058 | 1 | 298 | 0.0034 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69547430 | C | T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0142 | a0001c0003t0142g0214 | 1 | 298 | 0.0034 | 0 | c.283 others(8): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar |