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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAGAB_chr15_67195667_67259661 | 67234086 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(102): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0020a0002c0002t0001others(3): Show | a0001c0001t0006g0236a0001c0001t0006g0237a0001c0001t0006g0238others(100): Show | 105 | 380 | 0.2763 | 2 | c.451 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TAC | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 HG03471.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0356a0003c0005t0004g0357a0003c0005t0004g0358 | 3 | 380 | 0.0079 | 2 | c.74- others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67246391 | C | CAA | intron_variant | MODIFIER | HG02165.hp1 HG02738.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0346others(4): Show | 7 | 380 | 0.0184 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67251232 | G | GTC | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0006g0236others(2): Show | 5 | 380 | 0.0132 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67251236 | C | CTG | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01109.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0009a0003c0005t0004 | a0001c0001t0001g0273a0001c0001t0001g0360a0001c0001t0009g0006others(3): Show | 7 | 380 | 0.0184 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69456268 | C | CTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0014others(36): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(61): Show | 64 | 298 | 0.2148 | 2 | c.*19 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 1728 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69458707 | G | GCA | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0073a0001c0001t0078a0001c0001t0099others(9): Show | a0001c0001t0073g0052a0001c0001t0078g0055a0001c0001t0099g0161others(13): Show | 16 | 298 | 0.0537 | 2 | c.*17 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 17161 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69488149 | C | CGT | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0116others(8): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0007g0081others(10): Show | 13 | 298 | 0.0436 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 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 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 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 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69492518 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0144a0001c0004t0002a0001c0004t0010others(48): Show | a0001c0001t0144g0232a0001c0004t0002g0137a0001c0004t0010g0127others(85): Show | 88 | 298 | 0.2953 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69496273 | G | GTT | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0063a0001c0001t0105a0001c0001t0140others(5): Show | a0001c0001t0063g0288a0001c0001t0105g0108a0001c0001t0140g0269others(6): Show | 9 | 298 | 0.0302 | 2 | c.227 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69497295 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(37): Show | a0001c0001t0004g0233a0001c0001t0004g0254a0001c0001t0011g0201others(47): Show | 50 | 298 | 0.1678 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AAT | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0002g0157a0001c0001t0002g0158a0001c0001t0007g0027others(5): Show | 8 | 298 | 0.0269 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500696 | T | TAC | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0108a0001c0011t0029a0001c0011t0079 | a0001c0003t0108g0138a0001c0011t0029g0293a0001c0011t0029g0294others(1): Show | 4 | 298 | 0.0134 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0021a0001c0001t0056others(5): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0021g0278others(6): Show | 9 | 298 | 0.0302 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69504397 | C | CAA | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0105a0001c0007t0021a0001c0007t0034others(5): Show | a0001c0001t0105g0108a0001c0007t0021g0276a0001c0007t0021g0279others(6): Show | 9 | 298 | 0.0302 | 2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69506868 | C | CTG | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01884.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0020others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0113others(5): Show | a0001c0001t0002g0125a0001c0001t0007g0081a0001c0001t0113g0178others(6): Show | 9 | 298 | 0.0302 | 2 | c.216 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69520358 | C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG03041.hp2 HG03540.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0078a0001c0003t0012a0001c0003t0022others(5): Show | a0001c0001t0078g0055a0001c0003t0012g0096a0001c0003t0022g0010others(6): Show | 9 | 298 | 0.0302 | 2 | c.121 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 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 | c.105 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69540121 | C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02257.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0078others(16): Show | a0001c0001t0008g0012a0001c0001t0014g0059a0001c0001t0014g0060others(20): Show | 23 | 298 | 0.0772 | 2 | c.534 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69553437 | G | GTT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(8): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(9): Show | 12 | 298 | 0.0403 | 2 | c.282 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69558339 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0063a0001c0001t0140a0001c0003t0022others(5): Show | a0001c0001t0063g0288a0001c0001t0140g0269a0001c0003t0022g0010others(6): Show | 9 | 298 | 0.0302 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559249 | A | ATC | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0020 | a0001c0001t0011a0001c0001t0101a0001c0006t0028others(3): Show | a0001c0001t0011g0195a0001c0001t0101g0118a0001c0006t0028g0126others(3): Show | 6 | 298 | 0.0201 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559262 | T | TCA | intron_variant | MODIFIER | HG01167.hp2 HG01975.hp2 NA18953.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0027a0002c0002t0003 | a0001c0001t0002g0130a0001c0001t0002g0155a0001c0001t0027g0128others(1): Show | 4 | 298 | 0.0134 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69574377 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(37): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(62): Show | 65 | 298 | 0.2181 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69587475 | A | ATT | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0007a0001c0009 | a0001c0007t0021a0001c0007t0034a0001c0007t0148others(2): Show | a0001c0007t0021g0276a0001c0007t0021g0279a0001c0007t0034g0270others(3): Show | 6 | 298 | 0.0201 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69591517 | C | CTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(28): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(55): Show | 58 | 298 | 0.1946 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69599379 | T | TAA | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02486.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0007a0001c0001t0045a0001c0001t0057others(8): Show | a0001c0001t0007g0065a0001c0001t0045g0287a0001c0001t0057g0291others(9): Show | 12 | 298 | 0.0403 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69610050 | C | CAA | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0007t0021a0001c0007t0034others(2): Show | a0001c0001t0021g0278a0001c0007t0021g0276a0001c0007t0021g0279others(3): Show | 6 | 298 | 0.0201 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69622982 | A | AAG | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(55): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(92): Show | 95 | 298 | 0.3188 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626508 | A | ATT | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0007a0001c0001t0014a0001c0006t0016others(2): Show | a0001c0001t0007g0065a0001c0001t0014g0060a0001c0001t0014g0066others(5): Show | 8 | 298 | 0.0269 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626663 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01891.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0021others(18): Show | a0001c0001t0004g0261a0001c0001t0014g0059a0001c0001t0021g0278others(21): Show | 24 | 298 | 0.0805 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69627296 | G | GAA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0045a0001c0001t0063a0001c0001t0104others(5): Show | a0001c0001t0045g0287a0001c0001t0063g0288a0001c0001t0104g0292others(7): Show | 10 | 298 | 0.0336 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69628284 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(7): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(9): Show | 12 | 298 | 0.0403 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69630338 | G | GGC | intron_variant | MODIFIER | HG01981.hp2 HG02293.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0020others(1): Show | a0001c0001t0004g0206a0001c0001t0004g0258a0001c0001t0006g0205others(3): Show | 6 | 298 | 0.0201 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69630340 | T | TGG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(43): Show | a0001c0001t0002g0149a0001c0001t0007g0049a0001c0001t0007g0065others(64): Show | 67 | 298 | 0.2248 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69634709 | G | GAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0056others(58): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0008g0022others(101): Show | 104 | 298 | 0.3490 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640014 | A | AAC | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01358.hp1 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(18): Show | a0001c0001t0002g0120a0001c0001t0002g0125a0001c0001t0004g0254others(23): Show | 26 | 298 | 0.0873 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640049 | A | ACT | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 NA18612.hp2 others(2): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0008a0001c0003t0022a0001c0003t0064others(2): Show | a0001c0001t0008g0084a0001c0003t0022g0010a0001c0003t0064g0085others(2): Show | 5 | 298 | 0.0168 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640051 | A | ACT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0024 | a0001c0001t0007a0001c0001t0056a0001c0001t0074others(23): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0056g0058others(37): Show | 40 | 298 | 0.1342 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69643085 | A | ATT | 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 | 0.3222 | 2 | c.-47 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TCC | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01981.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0002g0130a0001c0001t0002g0155a0001c0001t0008g0069others(15): Show | 18 | 298 | 0.0604 | 2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTC | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0001t0037a0001c0001t0140others(4): Show | a0001c0001t0021g0278a0001c0001t0037g0009a0001c0001t0140g0269others(5): Show | 8 | 298 | 0.0269 | 2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77822414 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(74): Show | 79 | 382 | 0.2068 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77823214 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01175.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0100a0001c0001t0001g0114a0001c0001t0001g0115others(31): Show | 34 | 382 | 0.0890 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77823621 | C | CAA | intron_variant | MODIFIER | HG01074.hp2 HG01358.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0001g0288others(11): Show | 14 | 382 | 0.0367 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0300a0001c0002t0002g0109a0001c0002t0002g0207others(9): Show | 12 | 382 | 0.0314 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77832951 | A | ATG | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01517.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291a0001c0001t0001g0304a0001c0001t0001g0328others(7): Show | 10 | 382 | 0.0262 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77834441 | G | GTT | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG02027.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0127a0001c0001t0001g0146others(7): Show | 10 | 382 | 0.0262 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |