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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104926016 | T | TA | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01070.hp2 others(81): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0005a0002c0011others(45): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(65): Show | a0001c0001t0001g0016a0001c0001t0001g0082a0001c0001t0001g0088others(81): Show | 84 | 318 | 0.2642 | 1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104926470 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG01257.hp1 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0003a0001c0001t0023a0001c0005t0002others(26): Show | a0001c0001t0003g0297a0001c0001t0023g0295a0001c0001t0023g0296others(29): Show | 32 | 318 | 0.1006 | 1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104926635 | C | CG | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01070.hp1 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0035others(15): Show | a0001c0001t0001a0001c0005t0002a0001c0035t0004others(17): Show | a0001c0001t0001g0121a0001c0005t0002g0123a0001c0005t0002g0129others(24): Show | 27 | 318 | 0.0849 | 1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104927212 | G | GA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(59): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(44): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0001g0082others(59): Show | 62 | 318 | 0.1950 | 1 | c.-93 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104927534 | A | AC | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0035others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0043others(20): Show | a0001c0001t0001g0016a0001c0001t0004g0021a0001c0001t0043g0002others(27): Show | 30 | 318 | 0.0943 | 1 | c.-93 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104929134 | C | CA | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01168.hp1 others(37): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0011a0002c0015others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(34): Show | a0001c0001t0001g0088a0001c0001t0003g0086a0001c0001t0003g0089others(37): Show | 40 | 318 | 0.1258 | 1 | c.-12 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 980 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104930919 | T | TC | upstream_gene_variant | MODIFIER | HG03453.hp1 NA19030.hp1 NA19043.hp1 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0077a0004c0066others(1): Show | a0001c0001t0043a0003c0077t0005a0004c0066t0008others(1): Show | a0001c0001t0043g0002a0003c0077t0005g0312a0004c0066t0008g0007others(1): Show | 4 | 318 | 0.0126 | 1 | c.-30 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2765 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932448 | G | GA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0035others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(46): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0001g0082others(66): Show | 69 | 318 | 0.2170 | 1 | c.-46 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4294 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932825 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01070.hp1 others(27): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0015a0002c0032others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(22): Show | a0001c0001t0001g0077a0001c0001t0001g0196a0001c0001t0006g0054others(27): Show | 30 | 318 | 0.0943 | 1 | c.-49 others(12): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137003474 | T | TG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(169): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(111): Show | 172 | 320 | 0.5375 | 1 | c.*44 others(12): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3759 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137004683 | T | TC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG03471.hp1 HG03486.hp2 |
a0001 | a0001c0023a0001c0049a0001c0054 | a0001c0023t0005a0001c0049t0005a0001c0054t0002 | a0001c0023t0005g0156a0001c0049t0005g0148a0001c0054t0002g0154 | 3 | 320 | 0.0094 | 1 | c.*32 others(12): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2550 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137008900 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(200): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0007others(32): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(124): Show | 203 | 320 | 0.6344 | 1 | c.693 others(8): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 46/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137011397 | A | AC | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0120others(12): Show | 17 | 320 | 0.0531 | 1 | c.579 others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 37/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137019424 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01433.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0017t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0059a0001c0001t0001g0070others(9): Show | 13 | 320 | 0.0406 | 1 | c.142 others(9): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 10/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137019901 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(33): Show |
a0001a0002a0003 | a0001c0006a0001c0009a0001c0014others(10): Show | a0001c0006t0003a0001c0009t0001a0001c0014t0003others(12): Show | a0001c0006t0003g0171a0001c0006t0003g0172a0001c0006t0003g0173others(27): Show | 36 | 320 | 0.1125 | 1 | c.142 others(9): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 10/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137024797 | C | CT | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01496.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0002others(7): Show | a0001c0001t0001g0060a0001c0001t0001g0066a0001c0001t0001g0067others(15): Show | 19 | 320 | 0.0594 | 1 | c.67- others(7): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137029055 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(154): Show | 239 | 320 | 0.7469 | 1 | c.-91 others(10): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 819 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2271188 | A | AG | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02056.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0016 | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0073a0001c0001t0001g0084others(7): Show | 10 | 252 | 0.0397 | 1 | c.*54 others(12): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 4692 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2279742 | A | AT | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG02809.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0133a0001c0001t0001g0146a0001c0001t0001g0235others(6): Show | 9 | 252 | 0.0357 | 1 | c.436 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2281806 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01258.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0027 | a0001c0001t0001a0001c0002t0001a0010c0027t0003 | a0001c0001t0001g0070a0001c0001t0001g0078a0001c0001t0001g0100others(3): Show | 6 | 252 | 0.0238 | 1 | c.403 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2293367 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(83): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0056others(82): Show | 86 | 252 | 0.3413 | 1 | c.241 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2298606 | A | AC | intron_variant | MODIFIER | HG01433.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0010 | a0001c0002t0001a0001c0003t0001a0001c0003t0012others(1): Show | a0001c0002t0001g0131a0001c0003t0001g0151a0001c0003t0001g0152others(4): Show | 7 | 252 | 0.0278 | 1 | c.174 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2304500 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(16): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0070a0001c0001t0001g0074a0001c0001t0001g0082others(16): Show | 19 | 252 | 0.0754 | 1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2307016 | C | CA | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02055.hp2 others(9): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0071a0001c0001t0001g0154others(9): Show | 12 | 252 | 0.0476 | 1 | c.128 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2313552 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00642.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0034a0001c0001t0001g0071a0001c0001t0001g0092others(20): Show | 24 | 252 | 0.0952 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2313891 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(29): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0146a0001c0001t0001g0189a0001c0001t0002g0215others(29): Show | 32 | 252 | 0.1270 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2314580 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(63): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(15): Show | a0001c0001t0001g0112a0001c0001t0004g0008a0001c0002t0001g0001others(62): Show | 66 | 252 | 0.2619 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2314872 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp1 others(35): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0062others(35): Show | 38 | 252 | 0.1508 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315574 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(144): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0052others(143): Show | 147 | 252 | 0.5833 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315839 | C | CT | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG01516.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0071others(17): Show | 20 | 252 | 0.0794 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316140 | G | GA | intron_variant | MODIFIER | HG00544.hp1 HG01952.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0092a0001c0001t0002g0200others(2): Show | 5 | 252 | 0.0198 | 1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(31): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0054a0001c0001t0001g0055others(31): Show | 34 | 252 | 0.1349 | 1 | c.111 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2319329 | C | CA | intron_variant | MODIFIER | HG01192.hp2 HG02602.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0092a0001c0001t0001g0154a0001c0001t0001g0172others(2): Show | 5 | 252 | 0.0198 | 1 | c.873 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2319484 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0052others(180): Show | 185 | 252 | 0.7341 | 1 | c.873 others(7): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2320397 | C | CT | intron_variant | MODIFIER | HG01192.hp1 HG02040.hp1 HG02280.hp1 others(3): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0092a0001c0001t0014g0249a0001c0002t0001g0142others(3): Show | 6 | 252 | 0.0238 | 1 | c.614 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2320985 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(181): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(29): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0052others(179): Show | 184 | 252 | 0.7302 | 1 | c.614 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2322530 | G | GC | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(34): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0084others(34): Show | 37 | 252 | 0.1468 | 1 | c.613 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2328124 | G | GA | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(38): Show |
a0001a0006a0009 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0188a0001c0001t0002g0191a0001c0001t0002g0192others(37): Show | 41 | 252 | 0.1627 | 1 | c.-27 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2331217 | C | CT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0022 | a0001c0001t0002a0001c0003t0002a0006c0022t0002 | a0001c0001t0002g0199a0001c0003t0002g0190a0001c0003t0002g0201others(5): Show | 8 | 252 | 0.0318 | 1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2333689 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG01255.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0100a0001c0001t0003g0033others(2): Show | 5 | 252 | 0.0198 | 1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2336597 | A | AT | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0001a0001c0004t0001a0001c0011t0001 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0094others(3): Show | 6 | 252 | 0.0238 | 1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2337548 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01192.hp2 others(53): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0058others(53): Show | 56 | 252 | 0.2222 | 1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2338751 | C | CT | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01106.hp1 others(37): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052a0001c0001t0001g0219a0001c0001t0002g0191others(37): Show | 40 | 252 | 0.1587 | 1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2340424 | C | CG | intron_variant | MODIFIER | HG02258.hp2 HG02300.hp2 HG02809.hp1 others(2): Show |
a0001a0012 | a0001c0004a0001c0005a0012c0012 | a0001c0004t0001a0001c0005t0001a0001c0005t0006others(1): Show | a0001c0004t0001g0040a0001c0005t0001g0042a0001c0005t0006g0038others(2): Show | 5 | 252 | 0.0198 | 1 | c.-53 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2342658 | A | AG | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0004g0006others(6): Show | 9 | 252 | 0.0357 | 1 | c.-26 others(12): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1931 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93988609 | T | TG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(35): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(13): Show | a0001c0001t0001g0057a0001c0001t0001g0083a0001c0001t0001g0092others(35): Show | 38 | 306 | 0.1242 | 1 | c.*46 others(12): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4224 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93988614 | G | GA | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03490.hp2 HG03492.hp2 |
a0001a0018 | a0001c0001a0018c0025 | a0001c0001t0001a0018c0025t0001 | a0001c0001t0001g0256a0018c0025t0001g0002 | 3 | 306 | 0.0098 | 1 | c.*46 others(12): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 4219 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93989387 | T | TG | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02257.hp1 others(14): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0169a0001c0001t0001g0196a0001c0001t0001g0284others(14): Show | 17 | 306 | 0.0556 | 1 | c.*38 others(12): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 3446 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93990873 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG02723.hp1 HG02809.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0284a0001c0004t0001g0091a0001c0004t0001g0195others(19): Show | 22 | 306 | 0.0719 | 1 | c.*23 others(12): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1960 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93997432 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0003others(11): Show | a0001c0007a0001c0108a0002c0098others(19): Show | a0001c0007t0001a0001c0108t0001a0002c0098t0001others(19): Show | a0001c0007t0001g0037a0001c0007t0001g0064a0001c0007t0001g0089others(35): Show | 38 | 306 | 0.1242 | 1 | c.672 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 48/49 | chr1 | TogoVar |