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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48187017 | G | GTA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01167.hp2 others(19): Show |
a0002a0004a0005others(17): Show | a0002c0022a0004c0009a0005c0007others(18): Show | a0002c0022t0002a0004c0009t0001a0005c0007t0003others(18): Show | a0002c0022t0002g0124 a0004c0009t0001g0115 a0005c0007t0003g0121 others(19): Show |
22 | 132 | 0.1667 | 2 | c.70- others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48187019 | G | GTA | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA20129.hp1 others(1): Show |
a0001a0055a0068others(1): Show | a0001c0001a0055c0057a0068c0040others(1): Show | a0001c0001t0006a0055c0057t0001a0068c0040t0001others(1): Show | a0001c0001t0006g0178 a0055c0057t0001g0001 a0068c0040t0001g0009 others(1): Show |
4 | 85 | 0.0471 | 2 | c.70- others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48206787 | A | AGT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01192.hp1 others(26): Show |
a0001a0002a0005others(16): Show | a0001c0001a0002c0002a0002c0065others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(22): Show | a0001c0001t0001g0133 a0002c0002t0001g0131 a0002c0002t0004g0106 others(26): Show |
29 | 154 | 0.1883 | 2 | c.287 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | AAC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp1 others(18): Show |
a0001a0002a0004others(15): Show | a0001c0001a0002c0002a0004c0008others(17): Show | a0001c0001t0001a0002c0002t0002a0004c0008t0001others(17): Show | a0001c0001t0001g0133 a0002c0002t0002g0156 a0004c0008t0001g0148 others(18): Show |
21 | 54 | 0.3889 | 2 | c.439 others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48246350 | G | GTC | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(45): Show |
a0009a0010a0013others(29): Show | a0009c0017a0009c0044a0009c0046others(35): Show | a0009c0017t0002a0009c0017t0003a0009c0044t0001others(39): Show | a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 others(45): Show |
48 | 176 | 0.2727 | 2 | c.165 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 13/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48278070 | G | GTA | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(12): Show |
a0001a0003a0023others(3): Show | a0001c0001a0003c0003a0003c0004others(4): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0001others(7): Show | a0001c0001t0001g0042 a0003c0003t0004g0028 a0003c0003t0004g0029 others(12): Show |
15 | 174 | 0.0862 | 2 | c.690 others(15): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48281689 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(37): Show |
a0003a0009a0010others(18): Show | a0003c0003a0003c0004a0009c0017others(24): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(29): Show | a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(37): Show |
40 | 176 | 0.2273 | 2 | c.883 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCC | intron_variant | MODIFIER | HG00408.hp1 HG02083.hp2 HG02615.hp2 others(11): Show |
a0001a0007a0008others(5): Show | a0001c0001a0007c0011a0008c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0007c0011t0003others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0063 others(11): Show |
14 | 102 | 0.1373 | 2 | c.895 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48297940 | A | ATT | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG03471.hp1 others(3): Show |
a0014a0059a0072others(1): Show | a0014c0025a0014c0076a0059c0059others(2): Show | a0014c0025t0003a0014c0076t0001a0059c0059t0003others(2): Show | a0014c0025t0003g0024 a0014c0025t0003g0025 a0014c0076t0001g0021 others(3): Show |
6 | 104 | 0.0577 | 2 | c.920 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 22/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(37): Show |
a0001a0002a0005others(23): Show | a0001c0001a0002c0002a0002c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0133 a0001c0001t0002g0058 a0001c0001t0002g0066 others(37): Show |
40 | 52 | 0.7692 | 2 | c.932 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48314423 | A | AAT | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG02071.hp2 |
a0002a0022a0033 | a0002c0002a0022c0030a0033c0068 | a0002c0002t0001a0022c0030t0003a0033c0068t0002 | a0002c0002t0001g0131 a0022c0030t0003g0069 a0033c0068t0002g0061 |
3 | 176 | 0.0170 | 2 | c.985 others(17): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358204 | G | GAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(13): Show |
a0001a0003a0004others(9): Show | a0001c0010a0003c0003a0004c0008others(10): Show | a0001c0010t0001a0003c0003t0004a0004c0008t0004others(12): Show | a0001c0010t0001g0054 a0003c0003t0004g0028 a0004c0008t0004g0166 others(13): Show |
16 | 176 | 0.0909 | 2 | c.106 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358221 | G | GAA | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03195.hp2 |
a0001a0007a0025 | a0001c0001a0007c0011a0025c0085 | a0001c0001t0004a0007c0011t0007a0025c0085t0004 | a0001c0001t0004g0164 a0007c0011t0007g0165 a0025c0085t0004g0008 |
3 | 176 | 0.0170 | 2 | c.106 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | G | GTA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp2 others(16): Show |
a0001a0002a0008others(12): Show | a0001c0010a0002c0002a0002c0022others(13): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0004others(15): Show | a0001c0010t0002g0075 a0002c0002t0002g0156 a0002c0002t0002g0167 others(16): Show |
19 | 66 | 0.2879 | 2 | c.108 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368776 | T | TAC | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01192.hp1 others(11): Show |
a0001a0005a0007others(6): Show | a0001c0001a0005c0023a0007c0011others(6): Show | a0001c0001t0001a0005c0023t0003a0007c0011t0003others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0050 others(11): Show |
14 | 101 | 0.1386 | 2 | c.108 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48381370 | T | TAC | intron_variant | MODIFIER | HG01167.hp2 HG01952.hp2 HG02109.hp1 others(25): Show |
a0001a0006a0012others(10): Show | a0001c0001a0006c0005a0006c0024others(15): Show | a0001c0001t0001a0006c0005t0003a0006c0024t0001others(17): Show | a0001c0001t0001g0082 a0006c0005t0003g0087 a0006c0005t0003g0093 others(25): Show |
28 | 173 | 0.1619 | 2 | c.113 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AAC | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01433.hp2 others(26): Show |
a0001a0002a0005others(17): Show | a0001c0001a0001c0010a0001c0104others(21): Show | a0001c0001t0004a0001c0010t0001a0001c0104t0005others(24): Show | a0001c0001t0004g0164 a0001c0010t0001g0054 a0001c0104t0005g0044 others(26): Show |
29 | 104 | 0.2788 | 2 | c.118 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48409926 | C | CAA | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01070.hp2 others(17): Show |
a0001a0002a0003others(14): Show | a0001c0010a0002c0022a0003c0003others(14): Show | a0001c0010t0001a0002c0022t0002a0003c0003t0004others(14): Show | a0001c0010t0001g0067 a0002c0022t0002g0124 a0003c0003t0004g0029 others(17): Show |
20 | 114 | 0.1754 | 2 | c.120 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCC | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01070.hp2 others(8): Show |
a0001a0003a0005others(7): Show | a0001c0010a0003c0003a0005c0007others(7): Show | a0001c0010t0002a0003c0003t0004a0005c0007t0003others(7): Show | a0001c0010t0002g0075 a0003c0003t0004g0029 a0003c0003t0004g0034 others(8): Show |
11 | 147 | 0.0748 | 2 | c.122 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48420322 | C | CTT | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03540.hp1 |
a0005a0052a0053 | a0005c0063a0052c0106a0053c0091 | a0005c0063t0001a0052c0106t0005a0053c0091t0001 | a0005c0063t0001g0010 a0052c0106t0005g0006 a0053c0091t0001g0108 |
3 | 176 | 0.0170 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48422055 | C | CAA | intron_variant | MODIFIER | HG00738.hp2 HG02071.hp2 HG02145.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0002a0001c0010t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0085 a0001c0010t0001g0054 a0002c0002t0001g0131 others(3): Show |
6 | 23 | 0.2609 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48425721 | A | ATG | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03041.hp2 others(11): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0010a0003c0004others(8): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(11): Show |
14 | 176 | 0.0795 | 2 | c.124 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48426938 | G | GAC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(153): Show |
a0001a0002a0003others(76): Show | a0001c0001a0001c0010a0001c0103others(99): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0050 others(153): Show |
156 | 176 | 0.8864 | 2 | c.124 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48430672 | T | TAA | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(6): Show |
a0007a0012a0013others(6): Show | a0007c0102a0012c0012a0013c0006others(6): Show | a0007c0102t0001a0012c0012t0002a0013c0006t0001others(6): Show | a0007c0102t0001g0020 a0012c0012t0002g0073 a0013c0006t0001g0016 others(6): Show |
9 | 63 | 0.1429 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48445011 | C | CTT | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02280.hp2 others(2): Show |
a0006a0014a0023others(1): Show | a0006c0024a0014c0076a0023c0015others(1): Show | a0006c0024t0001a0006c0024t0003a0014c0076t0001others(2): Show | a0006c0024t0001g0019 a0006c0024t0003g0107 a0014c0076t0001g0021 others(2): Show |
5 | 64 | 0.0781 | 2 | c.125 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48450972 | C | CTT | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02886.hp1 others(3): Show |
a0007a0040a0052others(3): Show | a0007c0011a0040c0064a0052c0106others(3): Show | a0007c0011t0007a0040c0064t0001a0052c0106t0005others(3): Show | a0007c0011t0007g0165 a0040c0064t0001g0127 a0052c0106t0005g0006 others(3): Show |
6 | 62 | 0.0968 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48453235 | A | ATT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02523.hp2 others(11): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0010a0003c0004others(7): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(11): Show |
14 | 115 | 0.1217 | 2 | c.125 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48457275 | C | CTA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0001g0177 others(27): Show |
30 | 176 | 0.1705 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48461644 | C | CCT | intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 HG03486.hp2 |
a0014a0070 | a0014c0025a0070c0055 | a0014c0025t0003a0070c0055t0003 | a0014c0025t0003g0024 a0014c0025t0003g0025 a0070c0055t0003g0125 |
3 | 176 | 0.0170 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48462021 | A | ATC | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(24): Show | a0005c0007a0005c0023a0006c0005others(31): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(35): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(48): Show |
51 | 176 | 0.2898 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48465828 | T | TTA | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(24): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0022others(19): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(19): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(24): Show |
27 | 176 | 0.1534 | 2 | c.128 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48475458 | A | ATT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01993.hp1 others(4): Show |
a0009a0012a0021others(4): Show | a0009c0046a0012c0012a0021c0018others(4): Show | a0009c0046t0002a0012c0012t0002a0021c0018t0004others(4): Show | a0009c0046t0002g0090 a0012c0012t0002g0098 a0021c0018t0004g0095 others(4): Show |
7 | 107 | 0.0654 | 2 | c.129 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48496968 | G | GTT | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0046a0069others(2): Show | a0007c0011a0046c0067a0069c0086others(2): Show | a0007c0011t0007a0046c0067t0009a0069c0086t0009others(2): Show | a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show |
5 | 175 | 0.0286 | 2 | c.132 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 48/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48512760 | T | TCA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(156): Show |
a0001a0002a0003others(77): Show | a0001c0001a0001c0010a0001c0103others(100): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(121): Show | a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0050 others(156): Show |
159 | 176 | 0.9034 | 2 | c.136 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48525670 | C | CTT | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01167.hp1 others(20): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0002g0058 others(20): Show |
23 | 29 | 0.7931 | 2 | c.142 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48536259 | A | AAT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 2 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48551265 | A | ACT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 2 | c.143 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48570319 | C | CTT | intron_variant | MODIFIER | HG01192.hp1 HG01975.hp1 HG01993.hp2 others(37): Show |
a0001a0005a0006others(24): Show | a0001c0001a0005c0023a0005c0063others(27): Show | a0001c0001t0002a0005c0023t0003a0005c0063t0001others(29): Show | a0001c0001t0002g0066 a0005c0023t0003g0171 a0005c0063t0001g0010 others(37): Show |
40 | 130 | 0.3077 | 2 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48590272 | T | TAC | intron_variant | MODIFIER | HG02055.hp2 HG02523.hp2 HG03654.hp1 others(4): Show |
a0001a0008a0010others(3): Show | a0001c0001a0008c0013a0010c0016others(3): Show | a0001c0001t0001a0008c0013t0002a0010c0016t0001others(3): Show | a0001c0001t0001g0082 a0008c0013t0002g0089 a0010c0016t0001g0088 others(4): Show |
7 | 59 | 0.1186 | 2 | c.146 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48593242 | T | TTG | intron_variant | MODIFIER | NA18977.hp2 NA18987.hp2 NA19083.hp1 |
a0005a0006a0022 | a0005c0023a0006c0005a0022c0030 | a0005c0023t0003a0006c0005t0003a0022c0030t0003 | a0005c0023t0003g0138 a0006c0005t0003g0132 a0022c0030t0003g0038 |
3 | 155 | 0.0194 | 2 | c.146 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | A | AGT | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01192.hp1 others(11): Show |
a0001a0003a0005others(11): Show | a0001c0001a0003c0004a0005c0007others(11): Show | a0001c0001t0004a0003c0004t0001a0005c0007t0002others(11): Show | a0001c0001t0004g0049 a0003c0004t0001g0033 a0005c0007t0002g0129 others(11): Show |
14 | 105 | 0.1333 | 2 | c.148 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48629575 | C | CAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(27): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0010a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0064 a0001c0001t0002g0058 a0001c0001t0002g0066 others(27): Show |
30 | 87 | 0.3448 | 2 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48646525 | A | ATT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0103a0002c0065others(3): Show | a0001c0001t0006a0001c0103t0006a0002c0065t0006others(3): Show | a0001c0001t0006g0178 a0001c0103t0006g0059 a0002c0065t0006g0128 others(3): Show |
6 | 152 | 0.0395 | 2 | c.*10 others(13): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 62/62 | 1026 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104778099 | T | TCC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
a0002a0005a0012 | a0002c0037a0002c0078a0005c0070others(1): Show | a0002c0037t0001a0002c0078t0001a0005c0070t0001others(1): Show | a0002c0037t0001g0189 a0002c0078t0001g0271 a0005c0070t0001g0315 others(1): Show |
4 | 316 | 0.0127 | 2 | c.*62 others(13): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2906 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104779621 | G | GTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01257.hp2 others(30): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0032a0002c0059others(21): Show | a0001c0001t0001a0002c0032t0001a0002c0059t0001others(24): Show | a0001c0001t0001g0293 a0002c0032t0001g0316 a0002c0059t0001g0290 others(30): Show |
33 | 111 | 0.2973 | 2 | c.*46 others(13): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1384 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104790096 | C | CAA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01192.hp2 others(20): Show |
a0002a0004a0005others(2): Show | a0002c0015a0002c0017a0002c0025others(12): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(18): Show | a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0015t0013g0001 others(19): Show |
23 | 221 | 0.1041 | 2 | c.592 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 44/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104794512 | T | TAA | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01106.hp1 HG01192.hp2 others(21): Show |
a0002a0004a0005others(3): Show | a0002c0015a0002c0017a0002c0025others(14): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(19): Show | a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0015t0013g0001 others(20): Show |
24 | 46 | 0.5217 | 2 | c.538 others(15): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp2 others(82): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0002c0017others(36): Show | a0001c0001t0007a0001c0001t0052a0001c0005t0001others(55): Show | a0001c0001t0007g0238 a0001c0001t0052g0317 a0001c0005t0001g0047 others(82): Show |
85 | 96 | 0.8854 | 2 | c.494 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807885 | T | TTA | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02083.hp2 others(14): Show |
a0002a0005a0011others(7): Show | a0002c0031a0005c0014a0005c0026others(11): Show | a0002c0031t0001a0005c0014t0006a0005c0026t0024others(11): Show | a0002c0031t0001g0155 a0002c0031t0001g0192 a0005c0014t0006g0049 others(14): Show |
17 | 30 | 0.5667 | 2 | c.427 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | C | CAT | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01070.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0035others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0075 a0001c0001t0003g0087 a0001c0001t0004g0248 others(34): Show |
37 | 206 | 0.1796 | 2 | c.417 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar |