| geneid | 22848 |
|---|---|
| ensemblid | ENSG00000115977.21 |
| hgncid | 19679 |
| symbol | AAK1 |
| name | AP2 associated kinase 1 |
| refseq_nuc | NM_014911.5 |
| refseq_prot | NP_055726.4 |
| ensembl_nuc | ENST00000409085.9 |
| ensembl_prot | ENSP00000386456.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 69457997 |
| end | 69643739 |
| strand | - |
| ver | v1.2 |
| region | chr2:69457997-69643739 |
| region5000 | chr2:69452997-69648739 |
| regionname0 | AAK1_chr2_69457997_69643739 |
| regionname5000 | AAK1_chr2_69452997_69648739 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514621
|
CTGT | C | 0.3456 | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(100): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(52): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(100): Show | 103 | 298 | -3 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1623_1625delACA | p.Gln542del | 2024/21157 | 1623/2886 | 541/961 | ||
|
chr2:69514722
|
T | G | 0.9966 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1525A>C | p.Lys509Gln | 1924/21157 | 1525/2886 | 509/961 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514477
|
C | T | 0.2953 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1770G>A | p.Glu590Glu | 2169/21157 | 1770/2886 | 590/961 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69461499
|
CA | C | 0.0235 | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02109.hp1 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0045a0001c0001t0091a0002c0002t0130others(4): Show | a0001c0001t0045g0287a0001c0001t0091g0117a0002c0002t0130g0243others(4): Show | 7 | 298 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*14369delT | 14369 | |||||
|
chr2:69468869
|
G | A | 0.7383 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(124): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*7000C>T | 7000 | |||||
|
chr2:69471026
|
G | A | 0.7383 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(124): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*4843C>T | 4843 | |||||
|
chr2:69475496
|
C | T | 0.2819 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(81): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0015others(1): Show | a0001c0001t0013a0001c0001t0037a0001c0001t0126others(38): Show | a0001c0001t0013g0151a0001c0001t0037g0009a0001c0001t0126g0219others(81): Show | 84 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | c.*373G>A | 373 | |||||
|
chr2:69643085
|
A | ATT | 0.3222 | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(93): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(39): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(93): Show | 96 | 298 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | c.-47_-46dupAA | 46 | |||||
|
chr2:69643169
|
C | A | 0.3524 | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(102): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(49): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(102): Show | 105 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | c.-129G>T | 129 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69477204
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(218): Show | 221 | 298 | 0.7416 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | c.2681-215dupT | ||||||
|
chr2:69478545
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0024others(3): Show | a0001c0001t0013a0001c0001t0126a0001c0001t0144others(42): Show | a0001c0001t0013g0151a0001c0001t0126g0219a0001c0001t0144g0232others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | c.2680+406C>T | ||||||
|
chr2:69485735
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(220): Show | 223 | 298 | 0.7483 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-2924delA | ||||||
|
chr2:69487585
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0024others(2): Show | a0001c0001t0013a0001c0001t0144a0002c0002t0001others(40): Show | a0001c0001t0013g0151a0001c0001t0144g0232a0002c0002t0001g0019others(83): Show | 86 | 298 | 0.2886 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-4773G>A | ||||||
|
chr2:69487787
|
C | CT | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01175.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0073a0001c0006t0016a0002c0002t0001others(3): Show | a0001c0001t0073g0052a0001c0006t0016g0289a0002c0002t0001g0046others(3): Show | 6 | 298 | 0.0201 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-4976dupA | ||||||
|
chr2:69488149
|
C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG02572.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0013 | a0001c0001t0013a0001c0001t0149a0002c0002t0001others(6): Show | a0001c0001t0013g0151a0001c0001t0149g0280a0002c0002t0001g0040others(7): Show | 10 | 298 | 0.0336 | 8 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5345_2366-5338dupACACACAC | ||||||
|
chr2:69488713
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-5901A>G | ||||||
|
chr2:69489012
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0024others(4): Show | a0001c0001t0013a0001c0001t0144a0002c0002t0001others(41): Show | a0001c0001t0013g0151a0001c0001t0144g0232a0002c0002t0001g0019others(84): Show | 87 | 298 | 0.2920 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2366-6201dupA | ||||||
|
chr2:69489450
|
C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(132): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(62): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(132): Show | 135 | 298 | 0.4530 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+6533_2365+6534dupTT | ||||||
|
chr2:69490923
|
C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0037others(54): Show | a0001c0001t0002g0132a0001c0001t0002g0150a0001c0001t0002g0157others(98): Show | 101 | 298 | 0.3389 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+5060_2365+5061dupTG | ||||||
|
chr2:69492045
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(219): Show | 222 | 298 | 0.7450 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3940T>G | ||||||
|
chr2:69492372
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0024others(4): Show | a0001c0001t0013a0001c0001t0144a0002c0002t0001others(42): Show | a0001c0001t0013g0151a0001c0001t0144g0232a0002c0002t0001g0019others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3613G>T | ||||||
|
chr2:69492518
|
C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01361.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0013a0001c0004t0010a0001c0004t0072others(15): Show | a0001c0001t0013g0151a0001c0004t0010g0156a0001c0004t0072g0093others(19): Show | 22 | 298 | 0.0738 | 3 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3464_2365+3466dupAAA | ||||||
|
chr2:69492724
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3261C>T | ||||||
|
chr2:69492890
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+3095A>G | ||||||
|
chr2:69493158
|
C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG02293.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0014a0002c0002t0003a0002c0002t0005others(2): Show | a0001c0004t0014g0063a0002c0002t0003g0245a0002c0002t0005g0239others(4): Show | 7 | 298 | 0.0235 | 5 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+2822_2365+2826dupTTTTT | ||||||
|
chr2:69494983
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(119): Show | a0001c0001t0002g0132a0001c0001t0004g0206a0001c0001t0004g0216others(212): Show | 215 | 298 | 0.7215 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | c.2365+1002C>T | ||||||
|
chr2:69496273
|
G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(24): Show | a0001c0001t0002g0125a0001c0001t0002g0132a0001c0001t0002g0149others(31): Show | 34 | 298 | 0.1141 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-194dupA | ||||||
|
chr2:69498908
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(131): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-2828A>G | ||||||
|
chr2:69498929
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0024others(3): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(44): Show | a0001c0001t0007g0049a0001c0001t0008g0069a0001c0001t0013g0151others(87): Show | 90 | 298 | 0.3020 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-2849A>G | ||||||
|
chr2:69499022
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0024others(3): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(45): Show | a0001c0001t0007g0049a0001c0001t0008g0069a0001c0001t0013g0151others(89): Show | 92 | 298 | 0.3087 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-2942A>G | ||||||
|
chr2:69499702
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(84): Show |
a0002a0006a0009 | a0002c0002a0002c0024a0006c0015others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(39): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(84): Show | 87 | 298 | 0.2920 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-3622A>T | ||||||
|
chr2:69500698
|
T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18961.hp1 NA18970.hp1 others(6): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0041a0002c0002t0001a0002c0002t0005others(6): Show | a0001c0006t0041g0008a0002c0002t0001g0044a0002c0002t0005g0240others(6): Show | 9 | 298 | 0.0302 | 14 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2270-4619_2270-4618insGTATATATATATAT | ||||||
|
chr2:69501020
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(93): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0016others(6): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(46): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(93): Show | 96 | 298 | 0.3222 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+4549G>A | ||||||
|
chr2:69501023
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(131): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(227): Show | 230 | 298 | 0.7718 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+4546T>C | ||||||
|
chr2:69503998
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(8): Show | a0001c0001t0088a0002c0002t0001a0002c0002t0003others(49): Show | a0001c0001t0088g0146a0002c0002t0001g0019a0002c0002t0001g0025others(94): Show | 97 | 298 | 0.3255 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+1570dupT | ||||||
|
chr2:69504397
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0037others(91): Show | a0001c0001t0002g0120a0001c0001t0014g0059a0001c0001t0014g0060others(153): Show | 156 | 298 | 0.5235 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+1171delT | ||||||
|
chr2:69505122
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(93): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0016others(6): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(46): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(93): Show | 96 | 298 | 0.3222 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+447A>G | ||||||
|
chr2:69505135
|
CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0012a0001c0003t0022a0001c0003t0026others(83): Show | a0001c0003t0012g0088a0001c0003t0012g0091a0001c0003t0012g0095others(145): Show | 148 | 298 | 0.4966 | -2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | c.2269+432_2269+433delTG | ||||||
|
chr2:69506868
|
CTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(84): Show |
a0002a0006a0009 | a0002c0002a0002c0024a0006c0015others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(39): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(84): Show | 87 | 298 | 0.2920 | -4 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | c.2164+549_2164+552delCACA | ||||||
|
chr2:69508611
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | c.2006+620G>T | ||||||
|
chr2:69508620
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 14/21 | c.2006+611C>T | ||||||
|
chr2:69510247
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(99): Show | 102 | 298 | 0.3423 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-787G>A | ||||||
|
chr2:69510816
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-1356C>T | ||||||
|
chr2:69510961
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0.2953 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1777-1501G>A | ||||||
|
chr2:69512543
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0016others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(101): Show | 104 | 298 | 0.3490 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1928G>A | ||||||
|
chr2:69512610
|
AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0.2953 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1860delC | ||||||
|
chr2:69512959
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(117): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(208): Show | 211 | 298 | 0.7081 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1512G>A | ||||||
|
chr2:69513095
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0016others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(101): Show | 104 | 298 | 0.3490 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1376C>G | ||||||
|
chr2:69513147
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(99): Show | 102 | 298 | 0.3423 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+1324A>C | ||||||
|
chr2:69513633
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0016others(8): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(53): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(101): Show | 104 | 298 | 0.3490 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/21 | c.1776+838G>A | ||||||
|
chr2:69514935
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(51): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(99): Show | 102 | 298 | 0.3423 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-186A>T | ||||||
|
chr2:69514958
|
C | A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0128a0002c0002t0130 | a0002c0002t0003g0227a0002c0002t0003g0244a0002c0002t0003g0245others(5): Show | 8 | 298 | 0.0269 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-209G>T | ||||||
|
chr2:69515352
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-603A>G | ||||||
|
chr2:69515592
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0004g0206others(246): Show | 249 | 298 | 0.8356 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-843T>C | ||||||
|
chr2:69515838
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0026a0002c0002others(5): Show | a0001c0004t0067a0001c0026t0152a0002c0002t0001others(44): Show | a0001c0004t0067g0077a0001c0026t0152g0295a0002c0002t0001g0019others(88): Show | 91 | 298 | 0.3054 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-1090delT | ||||||
|
chr2:69516134
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(129): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(225): Show | 228 | 298 | 0.7651 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1498-1385A>T | ||||||
|
chr2:69517668
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+1286G>A | ||||||
|
chr2:69518420
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(135): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(241): Show | 244 | 298 | 0.8188 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+534A>C | ||||||
|
chr2:69518481
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(220): Show | 223 | 298 | 0.7483 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 12/21 | c.1497+473T>C | ||||||
|
chr2:69520685
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | c.1210+149C>G | ||||||
|
chr2:69522981
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(141): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(64): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(141): Show | 144 | 298 | 0.4832 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1056-1993G>A | ||||||
|
chr2:69524071
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+962G>A | ||||||
|
chr2:69524412
|
TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(117): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(206): Show | 209 | 298 | 0.7013 | -5 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+616_1055+620delCAAAA | ||||||
|
chr2:69524617
|
T | TAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0.9966 | 2 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | c.1055+414_1055+415dupCT | ||||||
|
chr2:69528960
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(81): Show |
a0002a0006 | a0002c0002a0002c0024a0006c0015 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(37): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(81): Show | 84 | 298 | 0.2819 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 8/21 | c.871+1047delT | ||||||
|
chr2:69531795
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(144): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(66): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(144): Show | 147 | 298 | 0.4933 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 6/21 | c.656+246G>A | ||||||
|
chr2:69532283
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(218): Show | 221 | 298 | 0.7416 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-121C>T | ||||||
|
chr2:69534697
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(123): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-2535G>T | ||||||
|
chr2:69535406
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(81): Show |
a0002a0006 | a0002c0002a0002c0024a0006c0015 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(37): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(81): Show | 84 | 298 | 0.2819 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.535-3245delT | ||||||
|
chr2:69538856
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(80): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0024others(1): Show | a0001c0001t0004a0001c0001t0056a0002c0002t0001others(39): Show | a0001c0001t0004g0258a0001c0001t0056g0058a0002c0002t0001g0019others(80): Show | 83 | 298 | 0.2785 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3667A>G | ||||||
|
chr2:69539175
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(93): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(177): Show | 180 | 298 | 0.6040 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3348C>A | ||||||
|
chr2:69539176
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(93): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(177): Show | 180 | 298 | 0.6040 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3347T>A | ||||||
|
chr2:69539245
|
G | A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0115a0002c0002t0128others(1): Show | a0002c0002t0003g0227a0002c0002t0003g0244a0002c0002t0003g0245others(6): Show | 9 | 298 | 0.0302 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+3278C>T | ||||||
|
chr2:69539897
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0004a0001c0001t0056a0002c0002t0001others(41): Show | a0001c0001t0004g0258a0001c0001t0056g0058a0002c0002t0001g0019others(83): Show | 86 | 298 | 0.2886 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2626G>A | ||||||
|
chr2:69540115
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+2408T>G | ||||||
|
chr2:69540671
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1852T>C | ||||||
|
chr2:69541104
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | c.534+1419G>C | ||||||
|
chr2:69544352
|
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 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 4/21 | c.391+84G>A | ||||||
|
chr2:69546641
|
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 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-2097G>C | ||||||
|
chr2:69547972
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(120): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(208): Show | 211 | 298 | 0.7081 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-3428G>T | ||||||
|
chr2:69548328
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(121): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(209): Show | 212 | 298 | 0.7114 | 1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-3785dupT | ||||||
|
chr2:69548341
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T | C | 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 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-3797A>G | ||||||
|
chr2:69548690
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(216): Show | 219 | 298 | 0.7349 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-4146A>G | ||||||
|
chr2:69549598
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(93): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(175): Show | 178 | 298 | 0.5973 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-5054G>A | ||||||
|
chr2:69549933
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(114): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(200): Show | 203 | 298 | 0.6812 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.283-5389G>T | ||||||
|
chr2:69551426
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(82): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0056others(42): Show | a0001c0001t0004g0258a0001c0001t0007g0065a0001c0001t0056g0058others(82): Show | 85 | 298 | 0.2852 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+5434G>A | ||||||
|
chr2:69552831
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+4029G>T | ||||||
|
chr2:69553437
|
GT | G | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01928.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(16): Show | a0001c0001t0004g0206a0001c0001t0004g0261a0001c0001t0004g0265others(26): Show | 29 | 298 | 0.0973 | -1 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+3422delA | ||||||
|
chr2:69553505
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(91): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(172): Show | 175 | 298 | 0.5873 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+3355C>T | ||||||
|
chr2:69553630
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+3230G>A | ||||||
|
chr2:69554398
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(126): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(215): Show | 218 | 298 | 0.7315 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+2462G>T | ||||||
|
chr2:69554865
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(129): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0004g0206others(221): Show | 224 | 298 | 0.7517 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+1995G>C | ||||||
|
chr2:69556663
|
G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 3 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | c.282+196_282+197insGAG | ||||||
|
chr2:69557123
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(80): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0024others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0056others(42): Show | a0001c0001t0004g0258a0001c0001t0007g0049a0001c0001t0056g0058others(80): Show | 83 | 298 | 0.2785 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-145G>A | ||||||
|
chr2:69557146
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | c.164-168A>G | ||||||
|
chr2:69558339
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(114): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(202): Show |