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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(58): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(44): Show |
61 | 153 | 0.3987 | 8 | c.-16 others(25): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001395 | A | AGGAGGGA others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18906.hp1 NA18940.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0148 a0001c0001t0002g0113 a0001c0001t0002g0114 others(3): Show |
6 | 193 | 0.0311 | 8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0170 others(12): Show |
15 | 130 | 0.1154 | 8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0020 a0001c0001t0001g0086 a0001c0001t0001g0161 others(8): Show |
11 | 126 | 0.0873 | 8 | c.139 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02895.hp1 others(5): Show |
a0001a0005a0006 | a0001c0001a0005c0010a0006c0006 | a0001c0001t0001a0001c0001t0003a0005c0010t0001others(1): Show | a0001c0001t0001g0108 a0001c0001t0003g0075 a0001c0001t0003g0076 others(5): Show |
8 | 108 | 0.0741 | 8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051693 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0007 others(2): Show |
6 | 199 | 0.0302 | 8 | c.162 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37058143 | G | GTATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0049 a0001c0002t0002g0132 a0001c0002t0002g0138 |
3 | 244 | 0.0123 | 8 | c.*14 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1273 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37058147 | G | GTATGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0202 others(8): Show |
11 | 167 | 0.0659 | 8 | c.*14 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1277 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37058147 | G | GTATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00621.hp1 others(68): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0032 others(68): Show |
71 | 227 | 0.3128 | 8 | c.*14 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1277 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156303 | C | CTATTTTA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(73): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0011others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0237 a0001c0001t0001g0250 others(70): Show |
76 | 366 | 0.2077 | 8 | c.55+ others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02074.hp1 HG02132.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0002a0001c0003t0003a0002c0002t0002others(8): Show | a0001c0001t0002g0065 a0001c0001t0002g0354 a0001c0003t0003g0153 others(11): Show |
14 | 131 | 0.1069 | 8 | c.-13 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682186 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01255.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(7): Show | a0001c0001t0001g0221 a0001c0001t0001g0313 a0001c0001t0002g0220 others(10): Show |
13 | 218 | 0.0596 | 8 | c.-42 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8687465 | G | GCAATGAG others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0002g0027 others(21): Show |
24 | 360 | 0.0667 | 8 | c.-42 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8709350 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 HG03516.hp1 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(1): Show | a0002c0002t0001g0266 a0002c0002t0006g0332 a0002c0002t0010g0302 others(1): Show |
4 | 84 | 0.0476 | 8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710694 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03831.hp2 NA18998.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0012 | a0001c0001t0023a0001c0003t0003a0002c0012t0002 | a0001c0001t0023g0205 a0001c0003t0003g0359 a0002c0012t0002g0341 |
3 | 45 | 0.0667 | 8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711786 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0003a0003c0010t0010 | a0001c0001t0003g0353 a0003c0010t0010g0338 a0003c0010t0010g0339 |
3 | 291 | 0.0103 | 8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0119 others(42): Show |
45 | 146 | 0.3082 | 8 | c.-41 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737941 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0145 a0001c0003t0003g0271 a0001c0003t0003g0272 |
3 | 357 | 0.0084 | 8 | c.70+ others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(91): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0101 others(91): Show |
94 | 141 | 0.6667 | 8 | c.317 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01516.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0221 a0001c0001t0002g0347 a0001c0001t0003g0253 others(21): Show |
24 | 51 | 0.4706 | 8 | c.954 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8775267 | C | CTTTTCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0060 others(178): Show |
181 | 360 | 0.5028 | 8 | c.112 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69143833 | G | GTAGATAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(78): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0002g0004 a0001c0001t0002g0030 a0001c0001t0002g0109 others(78): Show |
81 | 152 | 0.5329 | 8 | c.*49 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69154324 | C | CACCTGGA others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(32): Show |
36 | 346 | 0.1040 | 8 | c.369 others(19): Show |
p.Glu others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | 4252/6008 | 3696/4632 | 1232/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69184849 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0028 | a0001c0001t0006a0003c0028t0006 | a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 others(3): Show |
6 | 187 | 0.0321 | 8 | c.249 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214931084 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02155.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0009a0001c0010others(15): Show | a0001c0004t0003a0001c0009t0008a0001c0010t0004others(17): Show | a0001c0004t0003g0062 a0001c0009t0008g0188 a0001c0009t0008g0189 others(20): Show |
23 | 86 | 0.2674 | 8 | c.*15 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 457 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214949375 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
a0001a0002a0003 | a0001c0032a0002c0057a0003c0014others(1): Show | a0001c0032t0006a0002c0057t0006a0003c0014t0002others(2): Show | a0001c0032t0006g0042 a0002c0057t0006g0177 a0003c0014t0002g0101 others(3): Show |
6 | 164 | 0.0366 | 8 | c.685 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01928.hp1 HG01943.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0011a0001c0016others(5): Show | a0001c0002t0001a0001c0011t0001a0001c0016t0002others(5): Show | a0001c0002t0001g0151 a0001c0011t0001g0125 a0001c0016t0002g0086 others(7): Show |
10 | 28 | 0.3571 | 8 | c.178 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01934.hp1 others(4): Show |
a0001a0020 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(3): Show | a0001c0001t0002g0035 a0001c0001t0002g0131 a0001c0002t0001g0060 others(4): Show |
7 | 9 | 0.7778 | 8 | c.507 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02622.hp1 HG03017.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0006t0005others(5): Show | a0001c0001t0002g0066 a0001c0003t0001g0033 a0001c0003t0001g0038 others(8): Show |
11 | 24 | 0.4583 | 8 | c.164 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105597 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG03195.hp2 |
a0002 | a0002c0027a0002c0058 | a0002c0027t0003a0002c0058t0002 | a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0058t0002g0072 |
3 | 195 | 0.0154 | 8 | c.163 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48187017 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02976.hp2 HG03139.hp1 |
a0023a0024 | a0023c0015a0024c0014 | a0023c0015t0004a0024c0014t0010 | a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0010g0174 |
3 | 113 | 0.0265 | 8 | c.70- others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225109 | G | GTGCCTGC others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG02976.hp2 others(3): Show |
a0023a0024a0064others(2): Show | a0023c0015a0024c0014a0064c0105others(2): Show | a0023c0015t0004a0024c0014t0010a0064c0105t0005others(2): Show | a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0010g0174 others(3): Show |
6 | 85 | 0.0706 | 8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225109 | G | GTGCGTGC others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 NA20300.hp2 |
a0014a0087 | a0014c0025a0087c0075 | a0014c0025t0003a0087c0075t0005 | a0014c0025t0003g0024 a0014c0025t0003g0025 a0087c0075t0005g0023 |
3 | 82 | 0.0366 | 8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | G | GCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01074.hp1 others(30): Show |
a0001a0002a0005others(22): Show | a0001c0001a0002c0002a0005c0007others(25): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(26): Show | a0001c0001t0001g0064 a0001c0001t0001g0177 a0001c0001t0002g0066 others(30): Show |
33 | 81 | 0.4074 | 8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01070.hp2 others(23): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0022others(15): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(16): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0050 others(23): Show |
26 | 38 | 0.6842 | 8 | c.932 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330485 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp2 others(32): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0010a0002c0002others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(26): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0133 others(32): Show |
35 | 110 | 0.3182 | 8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330737 | A | ACATCCAT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01123.hp2 others(26): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0103a0002c0002others(20): Show | a0001c0001t0001a0001c0103t0006a0002c0002t0001others(21): Show | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0050 others(26): Show |
29 | 103 | 0.2816 | 8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358212 | A | AGGAAGGG others(1): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19083.hp1 |
a0005a0009 | a0005c0023a0009c0017 | a0005c0023t0003a0009c0017t0002 | a0005c0023t0003g0138 a0009c0017t0002g0052 |
2 | 176 | 0.0114 | 8 | c.106 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48368687 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 HG06807.hp2 |
a0015a0075 | a0015c0019a0075c0048 | a0015c0019t0002a0075c0048t0004 | a0015c0019t0002g0136 a0015c0019t0002g0175 a0075c0048t0004g0159 |
3 | 50 | 0.0600 | 8 | c.108 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
a0052a0064a0066others(1): Show | a0052c0106a0064c0105a0066c0071others(1): Show | a0052c0106t0005a0064c0105t0005a0066c0071t0005others(1): Show | a0052c0106t0005g0006 a0064c0105t0005g0037 a0066c0071t0005g0105 others(1): Show |
4 | 79 | 0.0506 | 8 | c.118 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01952.hp2 others(10): Show |
a0003a0006a0008others(7): Show | a0003c0003a0006c0005a0008c0013others(7): Show | a0003c0003t0004a0006c0005t0003a0008c0013t0001others(8): Show | a0003c0003t0004g0028 a0006c0005t0003g0087 a0006c0005t0003g0093 others(10): Show |
13 | 119 | 0.1092 | 8 | c.120 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02071.hp1 HG02622.hp1 others(10): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0010a0001c0103others(9): Show | a0001c0001t0001a0001c0010t0001a0001c0103t0006others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0010t0001g0054 others(10): Show |
13 | 98 | 0.1327 | 8 | c.122 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48438884 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02523.hp2 HG02572.hp1 others(13): Show |
a0001a0007a0008others(8): Show | a0001c0001a0001c0010a0007c0102others(10): Show | a0001c0001t0001a0001c0010t0001a0007c0102t0001others(11): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0082 others(13): Show |
16 | 133 | 0.1203 | 8 | c.125 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48438884 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(23): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0022others(18): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(18): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(23): Show |
26 | 143 | 0.1818 | 8 | c.125 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48454770 | G | GCTCTAAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02258.hp1 others(14): Show |
a0013a0020a0024others(9): Show | a0013c0006a0020c0020a0024c0014others(9): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(11): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(14): Show |
17 | 176 | 0.0966 | 8 | c.125 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48478310 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(12): Show |
a0005a0007a0009others(7): Show | a0005c0007a0007c0101a0009c0017others(8): Show | a0005c0007t0002a0005c0007t0003a0007c0101t0003others(10): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0007c0101t0003g0141 others(12): Show |
15 | 147 | 0.1020 | 8 | c.129 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633935 | G | GATAGATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG00741.hp1 others(35): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0010a0002c0002others(26): Show | a0001c0001t0002a0001c0001t0004a0001c0010t0002others(28): Show | a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0085 others(35): Show |
38 | 175 | 0.2171 | 8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02615.hp1 HG02717.hp2 others(6): Show |
a0004a0005a0014others(5): Show | a0004c0008a0005c0063a0014c0076others(5): Show | a0004c0008t0004a0005c0063t0001a0014c0076t0001others(5): Show | a0004c0008t0004g0166 a0005c0063t0001g0010 a0014c0076t0001g0021 others(6): Show |
9 | 61 | 0.1475 | 8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48651589 | A | ATTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03139.hp1 HG06807.hp1 others(1): Show |
a0007a0024a0074others(1): Show | a0007c0011a0024c0014a0074c0036others(1): Show | a0007c0011t0007a0024c0014t0010a0074c0036t0007others(1): Show | a0007c0011t0007g0165 a0024c0014t0010g0174 a0074c0036t0007g0083 others(1): Show |
4 | 174 | 0.0230 | 8 | c.*60 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4093 | chr7 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0035a0001c0092others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0083 others(49): Show |
52 | 63 | 0.8254 | 8 | c.494 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar |