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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA2_chr9_137002234_137033237 | 137008900 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(199): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0007others(32): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(120): Show |
202 | 310 | 0.6516 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0110 others(12): Show |
17 | 317 | 0.0536 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0069 others(9): Show |
13 | 281 | 0.0463 | 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 | a0001c0006t0003g0179 a0001c0006t0003g0180 a0001c0006t0003g0181 others(27): Show |
36 | 318 | 0.1132 | 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 | a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 others(15): Show |
19 | 314 | 0.0605 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(151): Show |
239 | 318 | 0.7516 | 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 |
a0001a0009 | a0001c0001a0001c0002a0009c0016 | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0084 others(7): Show |
10 | 250 | 0.0400 | 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 |
a0001a0009 | a0001c0001a0001c0005a0009c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0235 others(6): Show |
9 | 235 | 0.0383 | 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 | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0100 others(3): Show |
6 | 248 | 0.0242 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 others(82): Show |
86 | 237 | 0.3629 | 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 | a0001c0002t0001g0131 a0001c0003t0001g0151 a0001c0003t0001g0152 others(4): Show |
7 | 250 | 0.0280 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0082 others(16): Show |
19 | 191 | 0.0995 | 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 |
a0001a0003 | a0001c0001a0001c0003a0003c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0154 others(9): Show |
12 | 156 | 0.0769 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0001g0092 others(20): Show |
24 | 207 | 0.1159 | 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(28): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(28): Show |
31 | 248 | 0.1250 | 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 |
a0001a0007a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(15): Show | a0001c0001t0001g0112 a0001c0001t0004g0008 a0001c0002t0001g0001 others(62): Show |
66 | 250 | 0.2640 | 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 |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 others(35): Show |
38 | 245 | 0.1551 | 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 |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(143): Show |
147 | 250 | 0.5880 | 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 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0071 others(17): Show |
20 | 186 | 0.1075 | 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 | a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0200 others(2): Show |
5 | 189 | 0.0265 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 others(31): Show |
34 | 49 | 0.6939 | 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 | a0001c0001t0001g0092 a0001c0001t0001g0154 a0001c0001t0001g0172 others(2): Show |
5 | 250 | 0.0200 | 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(181): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(179): Show |
184 | 247 | 0.7449 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0092 a0001c0001t0014g0249 a0001c0002t0001g0142 others(3): Show |
6 | 250 | 0.0240 | 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(180): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(29): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(178): Show |
183 | 240 | 0.7625 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 others(34): Show |
37 | 249 | 0.1486 | 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 |
a0001a0007a0008 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 others(37): Show |
41 | 250 | 0.1640 | 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 |
a0001a0007 | a0001c0001a0001c0003a0007c0022 | a0001c0001t0002a0001c0003t0002a0007c0022t0002 | a0001c0001t0002g0199 a0001c0003t0002g0190 a0001c0003t0002g0201 others(5): Show |
8 | 250 | 0.0320 | 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 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0033 others(2): Show |
5 | 200 | 0.0250 | 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(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(2): Show |
5 | 100 | 0.0500 | 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 |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 others(53): Show |
56 | 247 | 0.2267 | 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 |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052 a0001c0001t0001g0219 a0001c0001t0002g0191 others(37): Show |
40 | 228 | 0.1754 | 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 |
a0001a0006 | a0001c0004a0001c0005a0006c0012 | a0001c0004t0001a0001c0005t0001a0001c0005t0006others(1): Show | a0001c0004t0001g0040 a0001c0005t0001g0042 a0001c0005t0006g0038 others(2): Show |
5 | 250 | 0.0200 | 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 |
a0001a0012 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0006 others(6): Show |
9 | 250 | 0.0360 | 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 |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(13): Show | a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0086 others(34): Show |
38 | 124 | 0.3065 | 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 |
a0001a0019 | a0001c0001a0019c0025 | a0001c0001t0001a0019c0025t0001 | a0001c0001t0001g0254 a0019c0025t0001g0001 |
3 | 304 | 0.0099 | 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 |
a0001a0003a0007others(6): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0146 a0001c0001t0001g0191 a0001c0001t0001g0281 others(14): Show |
17 | 303 | 0.0561 | 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 | a0001c0001t0001g0281 a0001c0004t0001g0048 a0001c0004t0001g0187 others(19): Show |
22 | 291 | 0.0756 | 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 | a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 others(35): Show |
38 | 300 | 0.1267 | 1 | c.672 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 48/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998905 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01516.hp2 others(49): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0134 a0001c0003t0001g0159 a0001c0004t0001g0044 others(49): Show |
52 | 266 | 0.1955 | 1 | c.648 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94015448 | G | GA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(60): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0005others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(36): Show | a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0056 others(59): Show |
63 | 304 | 0.2072 | 1 | c.531 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 37/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94019019 | G | GT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(20): Show | a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0164 others(33): Show |
36 | 220 | 0.1636 | 1 | c.519 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94026217 | T | TC | intron_variant | MODIFIER | HG00280.hp2 HG01516.hp2 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0064a0003c0008others(2): Show | a0001c0001t0001a0001c0064t0001a0003c0008t0002others(2): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0223 others(5): Show |
8 | 304 | 0.0263 | 1 | c.454 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028906 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(81): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0009others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(23): Show | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0059 others(79): Show |
84 | 293 | 0.2867 | 1 | c.453 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94033423 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0004others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(37): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0030 others(93): Show |
98 | 300 | 0.3267 | 1 | c.386 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94033438 | G | GA | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02970.hp1 others(5): Show |
a0011a0035a0039others(3): Show | a0011c0018a0011c0079a0035c0070others(4): Show | a0011c0018t0001a0011c0079t0001a0035c0070t0001others(4): Show | a0011c0018t0001g0006 a0011c0018t0001g0110 a0011c0079t0001g0129 others(5): Show |
8 | 304 | 0.0263 | 1 | c.386 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94042098 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00642.hp1 others(58): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0006others(27): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(27): Show | a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0087 others(56): Show |
61 | 84 | 0.7262 | 1 | c.332 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94043771 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(180): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0004others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(66): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0052 others(178): Show |
183 | 303 | 0.6040 | 1 | c.305 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 20/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94045318 | C | CT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01169.hp2 others(9): Show |
a0001a0003a0017others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0257 a0001c0001t0002g0103 a0001c0003t0001g0247 others(9): Show |
12 | 243 | 0.0494 | 1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94050298 | G | GT | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0055others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0055t0005others(10): Show | a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0006t0001g0140 others(12): Show |
16 | 304 | 0.0526 | 1 | c.265 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 17/49 | chr1 | TogoVar |