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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104892727 | GT | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0002a0008 | a0002c0017a0002c0024a0002c0031others(2): Show | a0002c0017t0026a0002c0024t0008a0002c0031t0001others(2): Show | a0002c0017t0026g0190 a0002c0024t0008g0004 a0002c0024t0008g0009 others(3): Show |
6 | 316 | 0.0190 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104893421 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0002c0011others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0089 a0001c0001t0001g0231 a0001c0001t0003g0090 others(35): Show |
38 | 150 | 0.2533 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104894128 | GC | G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0002c0011others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0083 a0001c0001t0003g0267 a0001c0001t0004g0021 others(43): Show |
47 | 316 | 0.1487 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CT | C | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 NA18967.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0005a0002c0032a0004c0008others(4): Show | a0001c0005t0002a0002c0032t0001a0004c0008t0016others(4): Show | a0001c0005t0002g0247 a0002c0032t0001g0316 a0004c0008t0016g0180 others(4): Show |
7 | 52 | 0.1346 | -1 | c.66+ others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104897128 | GA | G | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 HG03098.hp2 others(1): Show |
a0002a0017 | a0002c0032a0002c0037a0002c0046others(1): Show | a0002c0032t0001a0002c0037t0001a0002c0046t0002others(1): Show | a0002c0032t0001g0026 a0002c0037t0001g0189 a0002c0046t0002g0157 others(1): Show |
4 | 316 | 0.0127 | -1 | c.66+ others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104904564 | CA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(61): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0035others(29): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(48): Show | a0001c0001t0001g0056 a0001c0001t0006g0044 a0001c0001t0006g0051 others(61): Show |
64 | 293 | 0.2184 | -1 | c.-92 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104905965 | AG | A | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 NA18906.hp2 |
a0002a0011 | a0002c0017a0002c0085a0011c0041 | a0002c0017t0026a0002c0085t0008a0011c0041t0001 | a0002c0017t0026g0190 a0002c0085t0008g0145 a0011c0041t0001g0188 |
3 | 316 | 0.0095 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104906749 | TC | T | intron_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02257.hp2 others(6): Show |
a0002a0005a0008others(2): Show | a0002c0017a0002c0025a0002c0032others(5): Show | a0002c0017t0026a0002c0025t0008a0002c0025t0015others(6): Show | a0002c0017t0026g0190 a0002c0025t0008g0199 a0002c0025t0015g0197 others(6): Show |
9 | 314 | 0.0287 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104906750 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01109.hp1 others(25): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0005a0002c0015others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(22): Show | a0001c0001t0001g0231 a0001c0001t0001g0260 a0001c0001t0004g0248 others(25): Show |
28 | 275 | 0.1018 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104912833 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0002a0005a0008others(1): Show | a0002c0057a0005c0022a0008c0006others(1): Show | a0002c0057t0001a0005c0022t0002a0005c0022t0021others(2): Show | a0002c0057t0001g0151 a0005c0022t0002g0198 a0005c0022t0021g0144 others(3): Show |
6 | 316 | 0.0190 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104914500 | TA | T | intron_variant | MODIFIER | HG01496.hp2 HG02451.hp2 HG02897.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0024a0002c0059others(8): Show | a0001c0001t0006a0002c0024t0008a0002c0059t0001others(8): Show | a0001c0001t0006g0044 a0002c0024t0008g0004 a0002c0059t0001g0290 others(8): Show |
11 | 313 | 0.0351 | -1 | c.-92 others(10): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104926449 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(68): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0035others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(51): Show | a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(68): Show |
71 | 154 | 0.4610 | -1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104926483 | AC | A | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01433.hp1 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0005a0004c0096others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(5): Show | a0001c0001t0001g0017 a0001c0001t0004g0021 a0001c0005t0002g0018 others(8): Show |
11 | 316 | 0.0348 | -1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104927220 | AG | A | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01081.hp2 others(33): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0035others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0003g0087 others(33): Show |
36 | 316 | 0.1139 | -1 | c.-93 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104932825 | CA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0035a0002c0025others(13): Show | a0001c0001t0002a0001c0001t0043a0001c0035t0004others(16): Show | a0001c0001t0002g0139 a0001c0001t0043g0003 a0001c0035t0004g0012 others(17): Show |
20 | 125 | 0.1600 | -1 | c.-49 others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137003478 | TC | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0002a0001c0007t0004a0001c0014t0004 | a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0007t0004g0049 others(1): Show |
4 | 318 | 0.0126 | -1 | c.*44 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3755 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137003479 | CT | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02135.hp1 others(14): Show |
a0001 | a0001c0002a0001c0014a0001c0015others(9): Show | a0001c0002t0002a0001c0014t0003a0001c0015t0003others(10): Show | a0001c0002t0002g0001 a0001c0014t0003g0162 a0001c0014t0003g0170 others(13): Show |
17 | 106 | 0.1604 | -1 | c.*44 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3754 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137019424 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0009others(13): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(15): Show | a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0152 others(25): Show |
37 | 305 | 0.1213 | -1 | c.142 others(9): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 10/48 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137030054 | AC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(123): Show |
204 | 317 | 0.6435 | -1 | c.-19 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1818 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2279742 | AT | A | intron_variant | MODIFIER | HG01515.hp1 HG01928.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0055 a0001c0001t0002g0198 a0001c0001t0003g0011 others(12): Show |
15 | 241 | 0.0622 | -1 | c.436 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2293539 | GT | G | intron_variant | MODIFIER | HG00639.hp1 HG02895.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0011others(1): Show | a0001c0001t0001g0071 a0001c0001t0002g0192 a0001c0001t0002g0207 others(2): Show |
5 | 246 | 0.0203 | -1 | c.241 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2301230 | CA | C | intron_variant | MODIFIER | HG01255.hp1 HG02897.hp2 HG03017.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0198 a0001c0001t0003g0011 a0001c0001t0004g0006 others(3): Show |
6 | 246 | 0.0244 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2301552 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(3): Show |
6 | 250 | 0.0240 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2301713 | GA | G | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(17): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0071 a0001c0002t0001g0187 a0001c0003t0001g0148 others(17): Show |
20 | 245 | 0.0816 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2303264 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0146 others(7): Show |
10 | 247 | 0.0405 | -1 | c.146 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2304500 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp2 others(50): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 others(50): Show |
53 | 225 | 0.2356 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2304675 | AT | A | intron_variant | MODIFIER | HG01943.hp1 HG02155.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0090 others(2): Show |
5 | 248 | 0.0202 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2304725 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0096 others(46): Show |
50 | 250 | 0.2000 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2307016 | CA | C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0144 others(7): Show |
10 | 154 | 0.0649 | -1 | c.128 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2308196 | TG | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(30): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(30): Show |
33 | 250 | 0.1320 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2310249 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(44): Show |
48 | 250 | 0.1920 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2312531 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(85): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0146 others(84): Show |
88 | 247 | 0.3563 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2313552 | CA | C | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01884.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0072 a0001c0001t0001g0158 a0001c0001t0001g0176 others(9): Show |
12 | 195 | 0.0615 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2314257 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(85): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(84): Show |
88 | 250 | 0.3520 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2314872 | CT | C | intron_variant | MODIFIER | HG02148.hp2 HG02280.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0235 a0001c0001t0003g0020 a0001c0001t0003g0027 others(2): Show |
5 | 212 | 0.0236 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315052 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(53): Show |
a0001a0010a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(52): Show |
56 | 250 | 0.2240 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315839 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG02698.hp1 HG02895.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0021 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0002g0217 others(2): Show |
5 | 171 | 0.0292 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316140 | GA | G | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0090 a0001c0001t0001g0238 a0001c0001t0003g0015 others(5): Show |
8 | 192 | 0.0417 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316308 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
a0001a0010a0012 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0130 a0001c0001t0002g0220 a0001c0002t0001g0001 others(49): Show |
53 | 248 | 0.2137 | -1 | c.111 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CA | C | intron_variant | MODIFIER | HG00735.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0002g0192 others(5): Show |
8 | 23 | 0.3478 | -1 | c.111 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2318956 | CT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(13): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0002g0192 others(13): Show |
16 | 250 | 0.0640 | -1 | c.873 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2328996 | CT | C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01071.hp1 others(34): Show |
a0001a0007a0008 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0002g0191 others(34): Show |
37 | 241 | 0.1535 | -1 | c.-33 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2330288 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(53): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0055 a0001c0001t0001g0143 a0001c0001t0001g0188 others(53): Show |
56 | 247 | 0.2267 | -1 | c.-53 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2330319 | AT | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp1 others(17): Show |
a0001a0006a0012 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(7): Show | a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0004g0006 others(17): Show |
20 | 209 | 0.0957 | -1 | c.-53 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2330697 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(222): Show |
227 | 238 | 0.9538 | -1 | c.-53 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2333602 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0001a0001c0005t0006a0001c0009t0001 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | 250 | 0.0200 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2333689 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(47): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0188 others(47): Show |
50 | 245 | 0.2041 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2334515 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00639.hp2 others(38): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0002g0191 others(38): Show |
41 | 247 | 0.1660 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2336431 | CT | C | intron_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0091 a0001c0001t0002g0198 a0001c0001t0005g0036 others(3): Show |
6 | 246 | 0.0244 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2336597 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 others(129): Show |
133 | 228 | 0.5833 | -1 | c.-53 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar |