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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8841013 | CGGAAGGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 others(307): Show |
318 | 343 | 0.9271 | -8 | c.108 others(25): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9100427 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA18953.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0212 |
3 | 326 | 0.0092 | -8 | c.155 others(25): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0004 | a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 others(7): Show |
10 | 21 | 0.4762 | -8 | c.-18 others(27): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42710697 | GAAATAAA others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02735.hp1 HG04184.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 others(6): Show |
9 | 123 | 0.0732 | -8 | c.-18 others(29): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722222 | CATTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0003 | a0001c0002t0003a0001c0009t0013a0002c0003t0001 | a0001c0002t0003g0072 a0001c0009t0013g0383 a0002c0003t0001g0384 others(4): Show |
7 | 330 | 0.0212 | -8 | c.-16 others(19): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(65): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0191 a0001c0001t0001g0279 others(65): Show |
68 | 133 | 0.5113 | -8 | c.-26 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0070 others(80): Show |
83 | 91 | 0.9121 | -8 | c.570 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0088 others(37): Show |
40 | 53 | 0.7547 | -8 | c.915 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761176 | TATATATG others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0002 a0001c0001t0006g0009 a0001c0001t0006g0032 others(7): Show |
18 | 426 | 0.0423 | -8 | c.*35 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3583 | chr3 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12645245 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02056.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0261 others(5): Show |
10 | 228 | 0.0439 | -8 | c.168 others(23): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658108 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(45): Show |
60 | 203 | 0.2956 | -8 | c.386 others(25): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(46): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(39): Show |
49 | 326 | 0.1503 | -8 | c.535 others(25): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0019others(5): Show | a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 others(67): Show |
78 | 205 | 0.3805 | -8 | c.74- others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02818.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0033others(1): Show | a0001c0001t0002g0101 a0001c0001t0022g0010 a0001c0001t0033g0007 others(1): Show |
4 | 180 | 0.0222 | -8 | c.227 others(27): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640047 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02145.hp2 HG02723.hp1 others(8): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0033a0001c0003t0076a0001c0004t0017others(6): Show | a0001c0001t0033g0007 a0001c0003t0076g0074 a0001c0004t0017g0064 others(8): Show |
11 | 294 | 0.0374 | -8 | c.163 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69647388 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 NA18612.hp1 NA19068.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0096a0001c0003t0103a0002c0002t0004others(1): Show | a0001c0001t0096g0115 a0001c0003t0103g0136 a0002c0002t0004g0224 others(1): Show |
4 | 77 | 0.0519 | -8 | c.-40 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02055.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0112 a0001c0002t0002g0205 others(15): Show |
19 | 323 | 0.0588 | -8 | c.-18 others(25): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0102 others(117): Show |
123 | 251 | 0.4900 | -8 | c.-18 others(25): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02922.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0002t0007g0149 others(1): Show |
4 | 151 | 0.0265 | -8 | c.-37 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36234545 | GTCGAATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0047 |
4 | 296 | 0.0135 | -8 | c.-20 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1932 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36258860 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(19): Show |
25 | 295 | 0.0847 | -8 | c.*31 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1928 | chr20 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965117 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02027.hp1 HG02559.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0104 others(3): Show |
6 | 26 | 0.2308 | -8 | c.-68 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 664 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967269 | ATATTATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0072 |
3 | 321 | 0.0093 | -8 | c.-28 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2816 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967277 | TAATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03490.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(1): Show |
4 | 319 | 0.0125 | -8 | c.-28 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2824 | chr17 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122139948 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 a0001c0001t0003g0296 a0001c0001t0003g0308 |
3 | 99 | 0.0303 | -8 | c.-16 others(25): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(127): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(110): Show |
130 | 204 | 0.6373 | -8 | c.-16 others(25): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0003t0001a0003c0007t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0003t0001g0034 others(2): Show |
5 | 120 | 0.0417 | -8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37007359 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show |
7 | 160 | 0.0438 | -8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37022145 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02135.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 others(5): Show |
8 | 244 | 0.0328 | -8 | c.154 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 others(5): Show |
8 | 108 | 0.0741 | -8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37052041 | GCTGCTCC others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 others(3): Show |
6 | 244 | 0.0246 | -8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37058958 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01884.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 others(23): Show |
26 | 239 | 0.1088 | -8 | c.*22 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 2088 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140792 | GCCGTGAG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG02895.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(3): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(3): Show | a0001c0001t0001g0316 a0001c0011t0001g0263 a0001c0011t0001g0265 others(15): Show |
18 | 366 | 0.0492 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140916 | GCCGTGGG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0002c0064others(12): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(12): Show | a0001c0001t0001g0264 a0001c0001t0001g0316 a0001c0011t0001g0263 others(28): Show |
33 | 366 | 0.0902 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141917 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02809.hp1 HG02895.hp1 |
a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0016c0022t0009 | a0001c0001t0001g0027 a0016c0022t0009g0240 a0016c0022t0009g0262 |
3 | 268 | 0.0112 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141953 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(99): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0040others(17): Show | a0001c0001t0001a0001c0004t0002a0001c0040t0001others(21): Show | a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0210 others(95): Show |
102 | 366 | 0.2787 | -8 | c.56- others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8724738 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01099.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0145 others(32): Show |
35 | 360 | 0.0972 | -8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(14): Show | a0001c0001t0002g0146 a0002c0002t0001g0039 a0002c0002t0003g0239 others(19): Show |
22 | 66 | 0.3333 | -8 | c.71- others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0002g0347 others(5): Show |
8 | 50 | 0.1600 | -8 | c.199 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754661 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006a0002c0002t0007others(1): Show | a0001c0001t0001g0240 a0002c0002t0006g0346 a0002c0002t0007g0270 others(1): Show |
4 | 356 | 0.0112 | -8 | c.317 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0002g0065 a0001c0001t0002g0096 a0001c0001t0003g0032 others(9): Show |
12 | 27 | 0.4444 | -8 | c.817 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008others(1): Show | a0001c0001t0002a0001c0001t0037a0002c0006t0002others(2): Show | a0001c0001t0002g0354 a0001c0001t0037g0286 a0002c0006t0002g0343 others(2): Show |
5 | 32 | 0.1563 | -8 | c.954 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773141 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG02055.hp2 |
a0002 | a0002c0002a0002c0006a0002c0017 | a0002c0002t0032a0002c0006t0003a0002c0017t0002 | a0002c0002t0032g0149 a0002c0006t0003g0022 a0002c0017t0002g0038 |
3 | 358 | 0.0084 | -8 | c.954 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8789444 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(30): Show | a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 others(98): Show |
101 | 136 | 0.7426 | -8 | c.*80 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4875 | chr16 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69143833 | GTAGATAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp2 HG03471.hp1 HG03834.hp2 others(3): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0008 | a0001c0001t0002a0001c0001t0008a0004c0004t0003others(1): Show | a0001c0001t0002g0033 a0001c0001t0002g0161 a0001c0001t0008g0325 others(3): Show |
6 | 77 | 0.0779 | -8 | c.*49 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184916 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp2 others(25): Show |
a0005a0006a0010 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(3): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(25): Show |
28 | 241 | 0.1162 | -8 | c.249 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG03471.hp2 HG03834.hp1 others(6): Show |
a0001a0004a0013 | a0001c0001a0001c0034a0004c0006others(1): Show | a0001c0001t0006a0001c0034t0002a0004c0006t0003others(1): Show | a0001c0001t0006g0012 a0001c0034t0002g0112 a0004c0006t0003g0036 others(6): Show |
9 | 251 | 0.0359 | -8 | c.100 others(27): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950382 | ATCTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(36): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(13): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(36): Show |
39 | 177 | 0.2203 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp1 HG03516.hp2 others(2): Show |
a0001a0004 | a0001c0015a0004c0018a0004c0059 | a0001c0015t0007a0001c0015t0009a0004c0018t0021others(1): Show | a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 others(2): Show |
5 | 82 | 0.0610 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950414 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 NA20129.hp1 |
a0009a0014 | a0009c0028a0014c0048 | a0009c0028t0003a0014c0048t0003 | a0009c0028t0003g0081 a0009c0028t0003g0083 a0014c0048t0003g0052 |
3 | 196 | 0.0153 | -8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar |