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 | 122141658 | CAAAAAA | C | intron_variant | MODIFIER | HG02165.hp2 NA18955.hp2 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 a0001c0001t0004g0041 a0001c0001t0004g0042 others(2): Show |
6 | 80 | 0.0750 | -6 | c.-16 others(23): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp2 HG02293.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0008 | a0001c0001t0001a0002c0004t0001a0004c0008t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(5): Show |
8 | 170 | 0.0471 | -6 | c.832 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37014267 | GTAATAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 others(6): Show |
9 | 153 | 0.0588 | -6 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81114136 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0024a0025others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0233 a0009c0019t0004g0234 a0009c0019t0004g0235 others(7): Show |
10 | 248 | 0.0403 | -6 | c.*42 others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3158 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8672553 | ACCACAC | A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0001t0001g0011 a0002c0002t0001g0009 a0002c0002t0001g0340 others(2): Show |
5 | 360 | 0.0139 | -6 | c.-21 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2063 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682222 | CACACAG | C | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02165.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0003t0003others(3): Show | a0001c0001t0001g0148 a0001c0001t0022g0030 a0001c0003t0003g0147 others(3): Show |
6 | 360 | 0.0167 | -6 | c.-42 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8719754 | AAGGAGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0002g0255 others(6): Show |
9 | 359 | 0.0251 | -6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724740 | AAAAAAC | A | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0003others(4): Show | a0001c0003t0001g0099 a0001c0003t0003g0123 a0002c0002t0003g0076 others(5): Show |
8 | 360 | 0.0222 | -6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8728068 | CAGAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(151): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0060 others(151): Show |
154 | 360 | 0.4278 | -6 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8733814 | AGAGAGG | A | intron_variant | MODIFIER | HG02965.hp2 HG03540.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0003a0002c0002t0026a0002c0006t0002 | a0001c0001t0003g0032 a0002c0002t0026g0327 a0002c0006t0002g0343 |
3 | 360 | 0.0083 | -6 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(219): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0060 others(219): Show |
222 | 266 | 0.8346 | -6 | c.71- others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01243.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0042 a0001c0001t0002g0255 a0001c0001t0002g0273 others(15): Show |
18 | 33 | 0.5455 | -6 | c.817 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACAC | T | intron_variant | MODIFIER | HG02572.hp2 NA18945.hp2 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0002 | a0001c0001t0004a0001c0022t0002a0002c0002t0003others(1): Show | a0001c0001t0004g0325 a0001c0022t0002g0257 a0002c0002t0003g0264 others(1): Show |
4 | 31 | 0.1290 | -6 | c.954 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69177955 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(4): Show |
8 | 250 | 0.0320 | -6 | c.277 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184849 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(12): Show |
a0002a0003a0020others(1): Show | a0002c0002a0003c0003a0003c0025others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0016others(3): Show | a0002c0002t0001g0184 a0003c0003t0001g0059 a0003c0003t0001g0074 others(12): Show |
15 | 196 | 0.0765 | -6 | c.249 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69201779 | CATTTAT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show |
9 | 346 | 0.0260 | -6 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | CTTTTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(4): Show |
8 | 183 | 0.0437 | -6 | c.100 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATAT | G | intron_variant | MODIFIER | HG01346.hp2 HG02015.hp2 HG02055.hp2 others(17): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0004a0004c0006others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(5): Show | a0001c0001t0002g0015 a0001c0001t0002g0162 a0001c0001t0002g0168 others(16): Show |
20 | 262 | 0.0763 | -6 | c.100 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214937189 | GTTTGTT | G | intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0003 | a0003c0020a0003c0065 | a0003c0020t0003a0003c0065t0001 | a0003c0020t0003g0108 a0003c0065t0001g0104 |
2 | 196 | 0.0102 | -6 | c.754 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTG | C | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp2 |
a0003a0006 | a0003c0020a0006c0063 | a0003c0020t0001a0006c0063t0003 | a0003c0020t0001g0106 a0006c0063t0003g0079 |
2 | 79 | 0.0253 | -6 | c.685 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | TTTATTA | T | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02886.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0006a0002c0008others(2): Show | a0001c0003t0006a0001c0006t0005a0002c0008t0004others(4): Show | a0001c0003t0006g0048 a0001c0006t0005g0152 a0002c0008t0004g0021 others(8): Show |
11 | 104 | 0.1058 | -6 | c.457 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215006867 | CTTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp2 others(50): Show |
a0001a0002a0004others(5): Show | a0001c0005a0001c0009a0001c0010others(17): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(34): Show | a0001c0005t0001g0124 a0001c0005t0001g0145 a0001c0005t0003g0077 others(50): Show |
53 | 157 | 0.3376 | -6 | c.259 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 19/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215050328 | ATCTAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
a0003a0004a0006others(2): Show | a0003c0014a0003c0020a0003c0065others(11): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(16): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(21): Show |
24 | 196 | 0.1224 | -6 | c.508 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | AGTGTGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0007a0002c0008others(17): Show | a0001c0001t0012a0002c0007t0002a0002c0007t0006others(25): Show | a0001c0001t0012g0192 a0002c0007t0002g0105 a0002c0007t0006g0175 others(35): Show |
38 | 40 | 0.9500 | -6 | c.507 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215064688 | TACACGC | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02886.hp2 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0042a0004c0018a0007c0019others(1): Show | a0001c0042t0013a0004c0018t0008a0004c0018t0021others(2): Show | a0001c0042t0013g0045 a0004c0018t0008g0196 a0004c0018t0021g0082 others(3): Show |
6 | 186 | 0.0323 | -6 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215113732 | CTTGTTA | C | intron_variant | MODIFIER | HG01243.hp2 HG03490.hp1 NA18962.hp2 others(6): Show |
a0001a0012a0015others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(5): Show | a0001c0001t0012g0191 a0001c0004t0010g0198 a0001c0009t0008g0188 others(6): Show |
9 | 196 | 0.0459 | -6 | c.70- others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134577 | ATCTCTC | A | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0005a0003c0014 | a0001c0005t0005a0003c0014t0006 | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(1): Show |
4 | 172 | 0.0233 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134614 | TATAGAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0051a0002c0007others(1): Show | a0001c0005t0003a0001c0005t0005a0001c0051t0004others(2): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0051t0004g0076 others(3): Show |
6 | 171 | 0.0351 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134616 | TAGAGAG | T | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG03195.hp2 others(1): Show |
a0002a0017 | a0002c0027a0002c0058a0017c0049 | a0002c0027t0003a0002c0058t0002a0017c0049t0001 | a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0058t0002g0072 others(1): Show |
4 | 145 | 0.0276 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134646 | CAGAGAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0011a0001c0012others(14): Show | a0001c0004t0001a0001c0011t0001a0001c0011t0005others(17): Show | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0011t0001g0085 others(25): Show |
28 | 147 | 0.1905 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48175882 | TAACAAC | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(21): Show |
24 | 176 | 0.1364 | -6 | c.69+ others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48178975 | CTAATAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01952.hp2 others(30): Show |
a0001a0003a0004others(22): Show | a0001c0001a0003c0003a0003c0004others(24): Show | a0001c0001t0001a0001c0001t0006a0003c0003t0004others(26): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0006g0178 others(30): Show |
33 | 97 | 0.3402 | -6 | c.69+ others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01243.hp1 others(26): Show |
a0001a0006a0007others(13): Show | a0001c0001a0001c0010a0001c0103others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0050 others(26): Show |
29 | 62 | 0.4677 | -6 | c.439 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | ATTTTTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(15): Show |
a0009a0010a0012others(9): Show | a0009c0017a0009c0044a0009c0046others(13): Show | a0009c0017t0002a0009c0017t0003a0009c0044t0001others(14): Show | a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 others(15): Show |
18 | 20 | 0.9000 | -6 | c.764 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48313977 | GTGTGTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
a0001a0002a0005others(45): Show | a0001c0001a0001c0010a0001c0103others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(75): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(103): Show |
106 | 176 | 0.6023 | -6 | c.968 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48326683 | TTAACTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02895.hp1 others(3): Show |
a0026a0040a0047others(2): Show | a0026c0027a0040c0064a0047c0066others(2): Show | a0026c0027t0001a0026c0027t0006a0040c0064t0001others(3): Show | a0026c0027t0001g0161 a0026c0027t0006g0162 a0040c0064t0001g0127 others(3): Show |
6 | 176 | 0.0341 | -6 | c.100 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATATA | G | intron_variant | MODIFIER | HG02897.hp2 NA18977.hp2 |
a0006a0060 | a0006c0005a0060c0111 | a0006c0005t0003a0060c0111t0006 | a0006c0005t0003g0132 a0060c0111t0006g0031 |
2 | 49 | 0.0408 | -6 | c.108 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411043 | CTTTCTT | C | intron_variant | MODIFIER | HG01993.hp1 HG02109.hp1 HG02809.hp2 others(7): Show |
a0001a0006a0014others(4): Show | a0001c0010a0006c0005a0006c0024others(5): Show | a0001c0010t0001a0006c0005t0003a0006c0024t0001others(5): Show | a0001c0010t0001g0067 a0006c0005t0003g0087 a0006c0005t0003g0094 others(7): Show |
10 | 176 | 0.0568 | -6 | c.122 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411143 | CTTTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(37): Show |
40 | 176 | 0.2273 | -6 | c.122 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48431342 | AAACAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0010a0001c0104others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0002g0058 others(56): Show |
59 | 90 | 0.6556 | -6 | 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 | 48563794 | TTGTGTG | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG00738.hp1 others(44): Show |
a0001a0002a0004others(26): Show | a0001c0001a0001c0103a0002c0065others(33): Show | a0001c0001t0002a0001c0103t0006a0002c0065t0006others(35): Show | a0001c0001t0002g0066 a0001c0103t0006g0059 a0002c0065t0006g0128 others(44): Show |
47 | 58 | 0.8103 | -6 | c.143 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGTGT | A | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 |
a0002a0025 | a0002c0002a0025c0089 | a0002c0002t0004a0025c0089t0012 | a0002c0002t0004g0106 a0025c0089t0012g0154 |
2 | 93 | 0.0215 | -6 | c.148 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(23): Show |
a0002a0004a0005others(5): Show | a0002c0015a0002c0017a0002c0058others(15): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(21): Show | a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0015t0013g0001 others(22): Show |
26 | 97 | 0.2680 | -6 | c.427 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807871 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
a0002a0004 | a0002c0017a0004c0107 | a0002c0017t0002a0002c0017t0026a0004c0107t0002 | a0002c0017t0002g0185 a0002c0017t0026g0190 a0002c0017t0026g0209 others(1): Show |
4 | 316 | 0.0127 | -6 | c.427 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATATAT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02280.hp2 others(13): Show |
a0002a0004a0005others(5): Show | a0002c0033a0002c0058a0002c0078others(9): Show | a0002c0033t0002a0002c0033t0032a0002c0058t0007others(12): Show | a0002c0033t0002g0302 a0002c0033t0032g0025 a0002c0058t0007g0146 others(13): Show |
16 | 185 | 0.0865 | -6 | c.417 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(58): Show |
a0002a0003a0011others(5): Show | a0002c0011a0002c0015a0002c0032others(22): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(40): Show | a0002c0011t0004g0113 a0002c0011t0004g0177 a0002c0011t0004g0269 others(58): Show |
61 | 155 | 0.3935 | -6 | c.189 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104841441 | AAAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(122): Show |
a0001a0002a0003others(19): Show | a0001c0092a0002c0017a0002c0025others(47): Show | a0001c0092t0012a0002c0017t0015a0002c0017t0026others(89): Show | a0001c0092t0012g0275 a0002c0017t0015g0104 a0002c0017t0026g0190 others(122): Show |
125 | 316 | 0.3956 | -6 | c.814 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862071 | CACACAT | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00673.hp1 others(39): Show |
a0002a0003a0006others(8): Show | a0002c0011a0003c0002a0003c0009others(12): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(25): Show | a0002c0011t0004g0177 a0002c0011t0007g0119 a0002c0011t0007g0159 others(39): Show |
42 | 316 | 0.1329 | -6 | c.422 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 HG03516.hp1 others(6): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0002a0004c0099others(6): Show | a0001c0001t0006a0003c0002t0002a0004c0099t0001others(6): Show | a0001c0001t0006g0258 a0003c0002t0002g0261 a0004c0099t0001g0111 others(6): Show |
9 | 29 | 0.3103 | -6 | c.421 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTT | C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02630.hp2 others(3): Show |
a0004a0008a0026others(1): Show | a0004c0042a0004c0044a0004c0107others(3): Show | a0004c0042t0008a0004c0044t0007a0004c0107t0002others(3): Show | a0004c0042t0008g0084 a0004c0044t0007g0303 a0004c0107t0002g0291 others(3): Show |
6 | 51 | 0.1176 | -6 | c.66+ others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar |