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 | 69626663 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp1 HG01192.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(10): Show | a0001c0001t0001g0137 a0001c0001t0002g0021 a0001c0001t0002g0083 others(11): Show |
14 | 200 | 0.0700 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69628284 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(79): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(44): Show | a0001c0001t0002g0078 a0001c0001t0005g0197 a0001c0001t0005g0213 others(79): Show |
82 | 284 | 0.2887 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69630339 | G | GC | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01258.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(26): Show | a0001c0001t0005g0254 a0001c0001t0005g0259 a0001c0001t0005g0264 others(37): Show |
40 | 292 | 0.1370 | 1 | c.163 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69630340 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(52): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0137 others(77): Show |
80 | 127 | 0.6299 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633218 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(39): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(78): Show |
81 | 212 | 0.3821 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633599 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG02145.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0001a0001c0001t0033a0001c0001t0087others(4): Show | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0033g0007 others(5): Show |
8 | 101 | 0.0792 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69636201 | T | TA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0011others(4): Show | a0001c0001t0041a0001c0001t0054a0001c0001t0059others(8): Show | a0001c0001t0041g0287 a0001c0001t0054g0289 a0001c0001t0059g0288 others(10): Show |
13 | 295 | 0.0441 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69636705 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(40): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(70): Show |
73 | 295 | 0.2475 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640079 | T | TC | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02080.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0024a0001c0001t0053others(8): Show | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0024g0089 others(14): Show |
17 | 285 | 0.0596 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640481 | G | GT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(58): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(114): Show |
117 | 296 | 0.3953 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69643085 | A | AT | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(107): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0021others(60): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0021 others(107): Show |
110 | 176 | 0.6250 | 1 | c.-46 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00738.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0069others(11): Show | a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 others(22): Show |
25 | 53 | 0.4717 | 1 | c.-82 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77822414 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(119): Show |
127 | 270 | 0.4704 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77823214 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(236): Show |
254 | 267 | 0.9513 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77823621 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(136): Show |
149 | 269 | 0.5539 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77825698 | G | GT | intron_variant | MODIFIER | HG01074.hp2 NA18957.hp1 NA18963.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0336 others(4): Show |
7 | 379 | 0.0185 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77826361 | C | CA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0018 a0001c0002t0001g0067 a0001c0002t0001g0069 others(67): Show |
73 | 379 | 0.1926 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CA | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01256.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0214 others(24): Show |
28 | 119 | 0.2353 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77831694 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0136 a0001c0002t0001g0027 a0001c0002t0001g0028 others(55): Show |
61 | 355 | 0.1718 | 1 | c.-19 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77831862 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0102 others(34): Show |
39 | 229 | 0.1703 | 1 | c.-18 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77833010 | T | TA | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0001g0335 others(1): Show |
4 | 379 | 0.0106 | 1 | c.-18 others(18): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77834441 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(126): Show |
134 | 248 | 0.5403 | 1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77838615 | C | CT | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0106 a0001c0001t0001g0336 a0001c0002t0001g0014 others(4): Show |
7 | 292 | 0.0240 | 1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77845444 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(43): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0217 a0001c0002t0002g0222 others(42): Show |
46 | 380 | 0.1211 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850953 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0155 others(8): Show |
11 | 245 | 0.0449 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(73): Show |
84 | 87 | 0.9655 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77853993 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(209): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(196): Show |
212 | 299 | 0.7090 | 1 | c.132 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77855720 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(313): Show |
333 | 338 | 0.9852 | 1 | c.132 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77857699 | G | GT | intron_variant | MODIFIER | HG01256.hp1 HG02622.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0002t0002g0009 others(4): Show |
8 | 380 | 0.0211 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858194 | A | AT | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
7 | 88 | 0.0795 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0102 others(73): Show |
78 | 274 | 0.2847 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77863933 | C | CT | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0133 a0001c0001t0001g0293 a0001c0002t0001g0027 others(7): Show |
10 | 380 | 0.0263 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77868058 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00733.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0314 others(76): Show |
81 | 298 | 0.2718 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77868357 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0109 a0001c0001t0001g0160 others(77): Show |
85 | 374 | 0.2273 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77869307 | T | TC | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 a0001c0002t0002g0280 a0001c0002t0002g0341 |
3 | 380 | 0.0079 | 1 | c.133 others(16): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77869312 | C | CT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01074.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0105 a0001c0001t0001g0109 others(31): Show |
36 | 228 | 0.1579 | 1 | c.133 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77870329 | A | AT | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01167.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0174 others(26): Show |
29 | 282 | 0.1028 | 1 | c.228 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77874372 | C | CT | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02572.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0174 a0001c0001t0001g0212 a0001c0001t0001g0323 others(20): Show |
23 | 376 | 0.0612 | 1 | c.*20 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2021 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77875041 | C | CA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01243.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0167 a0001c0001t0001g0207 others(28): Show |
31 | 326 | 0.0951 | 1 | c.*27 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2690 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77875551 | G | GA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 |
3 | 380 | 0.0079 | 1 | c.*32 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3200 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77876402 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0290 a0001c0001t0001g0334 a0001c0001t0001g0335 others(74): Show |
80 | 373 | 0.2145 | 1 | c.*40 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4051 | chr11 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273445 | T | TG | upstream_gene_variant | MODIFIER | HG01255.hp2 HG03669.hp2 HG03942.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0005 | a0001c0001t0001a0001c0007t0001a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0007t0001g0031 others(1): Show |
6 | 398 | 0.0151 | 1 | c.-33 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3309 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273482 | T | TA | upstream_gene_variant | MODIFIER | HG00544.hp2 NA18951.hp1 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
6 | 398 | 0.0151 | 1 | c.-33 others(12): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3346 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273647 | A | AT | upstream_gene_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18963.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0026 others(1): Show |
7 | 261 | 0.0268 | 1 | c.-35 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3511 | chr2 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76464341 | T | TA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
118 | 411 | 0.2871 | 1 | c.-34 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 3261 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76464799 | A | AT | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
7 | 259 | 0.0270 | 1 | c.-30 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2803 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76465344 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(134): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(4): Show |
137 | 240 | 0.5708 | 1 | c.-24 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2258 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76470307 | T | TG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(112): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(8): Show |
115 | 387 | 0.2972 | 1 | c.*33 others(10): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 191 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76471301 | A | AC | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0014 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0005 a0003c0005t0001g0009 others(1): Show |
12 | 424 | 0.0283 | 1 | c.*13 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 1185 | chr17 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36238755 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG01257.hp1 HG02109.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0003t0001a0004c0008t0001 | a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
7 | 287 | 0.0244 | 1 | c.-48 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |