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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9120886 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG02698.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0020 |
3 | 328 | 0.0091 | 9 | c.-50 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4968 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(85): Show |
a0002a0005 | a0002c0003a0002c0008a0005c0006 | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0011 others(80): Show |
88 | 205 | 0.4293 | 9 | c.-18 others(26): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722222 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02293.hp1 HG02735.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0013 | a0001c0001t0007a0001c0001t0016a0001c0001t0020others(3): Show | a0001c0001t0007g0062 a0001c0001t0016g0059 a0001c0001t0020g0029 others(10): Show |
13 | 336 | 0.0387 | 9 | c.-16 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0004a0001c0009t0001others(3): Show | a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(6): Show |
9 | 179 | 0.0503 | 9 | c.916 others(26): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02129.hp1 HG02132.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0068 others(3): Show |
10 | 170 | 0.0588 | 9 | c.*44 others(20): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69464194 | A | AAACAACA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02572.hp2 HG02970.hp2 |
a0001a0003a0004 | a0001c0001a0003c0020a0004c0013 | a0001c0001t0099a0003c0020t0079a0004c0013t0039 | a0001c0001t0099g0294 a0003c0020t0079g0105 a0004c0013t0039g0284 |
3 | 210 | 0.0143 | 9 | c.*11 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 11674 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69633217 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG02040.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0008t0130others(2): Show | a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0259 others(5): Show |
8 | 271 | 0.0295 | 9 | c.163 others(26): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0119a0001c0009t0120a0001c0011t0029 | a0001c0001t0119g0188 a0001c0009t0120g0179 a0001c0011t0029g0292 |
3 | 31 | 0.0968 | 9 | c.-82 others(18): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00741.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show |
42 | 57 | 0.7368 | 9 | c.-44 others(20): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(32): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 others(25): Show |
35 | 113 | 0.3097 | 9 | c.290 others(28): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01361.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0068 others(13): Show |
17 | 109 | 0.1560 | 9 | c.-16 others(26): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02258.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 others(2): Show |
5 | 110 | 0.0455 | 9 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(7): Show |
10 | 154 | 0.0649 | 9 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140854 | G | GCCGTGGG others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0010 a0003c0003t0002g0038 a0003c0007t0001g0116 others(1): Show |
6 | 365 | 0.0164 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141531 | G | GGCCACAG others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
a0007a0012a0016others(1): Show | a0007c0071a0012c0016a0016c0022others(1): Show | a0007c0071t0001a0012c0016t0001a0016c0022t0009others(1): Show | a0007c0071t0001g0201 a0012c0016t0001g0179 a0016c0022t0009g0240 others(2): Show |
5 | 366 | 0.0137 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141928 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(54): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0011a0001c0066others(28): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0001t0001g0141 others(49): Show |
57 | 364 | 0.1566 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0070 others(62): Show |
65 | 112 | 0.5804 | 9 | c.317 others(26): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210081 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01243.hp2 others(19): Show |
a0001a0004a0010others(1): Show | a0001c0001a0004c0004a0010c0018others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0082 others(19): Show |
22 | 200 | 0.1100 | 9 | c.100 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210842 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02630.hp1 others(6): Show |
a0005a0006 | a0005c0005a0006c0007 | a0005c0005t0004a0006c0007t0004 | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(6): Show |
9 | 329 | 0.0274 | 9 | c.100 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01517.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0023others(3): Show | a0001c0002t0001a0001c0002t0011a0001c0003t0001others(4): Show | a0001c0002t0001g0028 a0001c0002t0001g0061 a0001c0002t0001g0151 others(6): Show |
9 | 102 | 0.0882 | 9 | c.457 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02293.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006a0001c0011 | a0001c0004t0001a0001c0004t0010a0001c0006t0002others(1): Show | a0001c0004t0001g0040 a0001c0004t0010g0198 a0001c0006t0002g0171 others(2): Show |
5 | 23 | 0.2174 | 9 | c.178 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215062684 | C | CGGCATGC others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01070.hp2 others(68): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(38): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0116 others(68): Show |
71 | 196 | 0.3622 | 9 | c.317 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTCATTAT others(2): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0003a0004 | a0003c0065a0004c0061 | a0003c0065t0001a0004c0061t0015 | a0003c0065t0001g0104 a0004c0061t0015g0181 |
2 | 4 | 0.5000 | 9 | c.164 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02922.hp2 others(2): Show |
a0001a0006 | a0001c0003a0001c0010a0001c0012others(2): Show | a0001c0003t0001a0001c0010t0009a0001c0012t0004others(2): Show | a0001c0003t0001g0043 a0001c0010t0009g0001 a0001c0012t0004g0064 others(2): Show |
5 | 7 | 0.7143 | 9 | c.164 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48231656 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02723.hp2 HG06807.hp1 others(1): Show |
a0010a0021a0056others(1): Show | a0010c0045a0021c0018a0056c0035others(1): Show | a0010c0045t0002a0021c0018t0004a0056c0035t0002others(1): Show | a0010c0045t0002g0076 a0021c0018t0004g0095 a0056c0035t0002g0157 others(1): Show |
4 | 142 | 0.0282 | 9 | c.763 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01243.hp1 HG02615.hp2 others(6): Show |
a0007a0012a0017others(5): Show | a0007c0101a0012c0107a0017c0094others(6): Show | a0007c0101t0003a0012c0107t0001a0017c0094t0002others(6): Show | a0007c0101t0003g0141 a0012c0107t0001g0111 a0017c0094t0002g0079 others(6): Show |
9 | 11 | 0.8182 | 9 | c.764 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00741.hp1 others(17): Show |
a0001a0002a0003others(10): Show | a0001c0010a0002c0022a0003c0003others(11): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(13): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0029 others(17): Show |
20 | 126 | 0.1587 | 9 | c.120 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48431342 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03471.hp2 HG03579.hp1 others(1): Show |
a0007a0020a0072others(1): Show | a0007c0011a0020c0020a0072c0074others(1): Show | a0007c0011t0007a0020c0020t0001a0072c0074t0001others(1): Show | a0007c0011t0007g0165 a0020c0020t0001g0007 a0072c0074t0001g0022 others(1): Show |
4 | 35 | 0.1143 | 9 | c.125 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624532 | C | CGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(142): Show |
a0001a0002a0003others(74): Show | a0001c0001a0001c0010a0001c0103others(97): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(112): Show | a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0177 others(142): Show |
145 | 176 | 0.8239 | 9 | c.148 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104928903 | G | GAAACAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(65): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(46): Show | a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(65): Show |
68 | 316 | 0.2152 | 9 | c.-10 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 749 | chr9 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 others(3): Show |
6 | 25 | 0.2400 | 9 | c.259 others(26): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(3): Show | a0001c0002t0001g0003 a0001c0002t0001g0086 a0001c0002t0001g0121 others(6): Show |
10 | 164 | 0.0610 | 9 | c.931 others(24): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(5): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0003c0009others(2): Show | a0002c0002t0002a0003c0003t0001a0003c0009t0001others(2): Show | a0002c0002t0002g0185 a0003c0003t0001g0267 a0003c0003t0001g0268 others(5): Show |
8 | 50 | 0.1600 | 9 | c.274 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003a0006 | a0003c0009a0006c0007a0006c0010 | a0003c0009t0001a0006c0007t0001a0006c0010t0001 | a0003c0009t0001g0258 a0006c0007t0001g0008 a0006c0007t0001g0023 others(5): Show |
12 | 26 | 0.4615 | 9 | c.461 others(24): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18983.hp1 NA19066.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0009a0003c0004others(3): Show | a0001c0001t0003a0002c0009t0001a0003c0004t0001others(3): Show | a0001c0001t0003g0018 a0002c0009t0001g0008 a0003c0004t0001g0023 others(3): Show |
6 | 9 | 0.6667 | 9 | c.255 others(26): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958575 | A | ATAATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG02896.hp1 HG02965.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0006a0003c0008others(2): Show | a0001c0001t0001a0002c0006t0001a0003c0008t0001others(2): Show | a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0236 others(7): Show |
10 | 135 | 0.0741 | 9 | c.-35 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3184 | chr17 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502546 | A | ATTATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03453.hp1 HG03516.hp1 |
a0001a0014 | a0001c0001a0001c0003a0014c0019 | a0001c0001t0009a0001c0003t0009a0014c0019t0009 | a0001c0001t0009g0267 a0001c0003t0009g0113 a0014c0019t0009g0237 |
3 | 348 | 0.0086 | 9 | c.*16 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 470 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20661534 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01071.hp2 others(16): Show |
a0002a0007a0011others(7): Show | a0002c0012a0007c0011a0011c0013others(8): Show | a0002c0012t0001a0007c0011t0001a0007c0011t0004others(11): Show | a0002c0012t0001g0082 a0007c0011t0001g0086 a0007c0011t0001g0088 others(16): Show |
19 | 336 | 0.0565 | 9 | c.170 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20679471 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0002c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(52): Show | a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0138 others(112): Show |
115 | 131 | 0.8779 | 9 | c.170 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02109.hp1 HG02615.hp1 others(10): Show |
a0001a0004a0007others(6): Show | a0001c0001a0001c0064a0004c0004others(8): Show | a0001c0001t0001a0001c0064t0001a0004c0004t0001others(9): Show | a0001c0001t0001g0290 a0001c0064t0001g0213 a0004c0004t0001g0134 others(10): Show |
13 | 55 | 0.2364 | 9 | c.233 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0028 others(24): Show |
28 | 49 | 0.5714 | 9 | c.334 others(26): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15949611 | G | GCGCCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0020others(10): Show | a0001c0001t0004g0106 a0001c0001t0005g0094 a0001c0001t0005g0099 others(14): Show |
17 | 67 | 0.2537 | 9 | c.-14 others(18): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0069 a0001c0001t0004g0118 a0001c0002t0001g0080 others(7): Show |
10 | 43 | 0.2326 | 9 | c.351 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16034023 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 HG03139.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0027 | a0001c0001t0004a0001c0001t0005a0009c0027t0001 | a0001c0001t0004g0106 a0001c0001t0005g0024 a0001c0001t0005g0025 others(2): Show |
5 | 50 | 0.1000 | 9 | c.677 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839089 | G | GGGGGGCA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01516.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0246 others(6): Show |
9 | 334 | 0.0269 | 9 | c.361 others(28): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | chr10 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0307 others(12): Show |
15 | 191 | 0.0785 | 9 | c.46- others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95151608 | G | GAGAAGGA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0024others(10): Show | a0001c0002t0005a0001c0009t0001a0001c0024t0006others(10): Show | a0001c0002t0005g0027 a0001c0009t0001g0046 a0001c0024t0006g0031 others(10): Show |
13 | 246 | 0.0528 | 9 | c.245 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244620 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0126 a0001c0001t0001g0185 a0001c0001t0001g0191 others(2): Show |
5 | 235 | 0.0213 | 9 | c.306 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0192 others(21): Show |
24 | 252 | 0.0952 | 9 | c.266 others(28): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17439908 | T | TTCTGGGG others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG02896.hp1 others(3): Show |
a0001a0007 | a0001c0004a0001c0010a0001c0022others(1): Show | a0001c0004t0001a0001c0010t0001a0001c0022t0001others(1): Show | a0001c0004t0001g0293 a0001c0010t0001g0298 a0001c0022t0001g0292 others(3): Show |
6 | 328 | 0.0183 | 9 | c.163 others(28): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar |