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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0233 | 1 | 118 | 0.0085 | 22 | c.-18 others(39): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703057 | C | CTCTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0389 | 1 | 317 | 0.0032 | 22 | c.-18 others(41): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0008others(1): Show | a0001c0001t0004a0002c0003t0001a0002c0008t0001others(1): Show | a0001c0001t0004g0382 a0002c0003t0001g0088 a0002c0003t0001g0254 others(4): Show |
7 | 18 | 0.3889 | 22 | c.-18 others(41): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0100 a0001c0002t0005g0101 |
2 | 122 | 0.0164 | 22 | c.-18 others(43): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0231 a0001c0002t0001g0227 |
2 | 268 | 0.0075 | 22 | c.386 others(39): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056457 | T | TATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 271 | 0.0037 | 22 | c.*44 others(33): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 244 | 0.0041 | 22 | c.535 others(39): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02132.hp1 HG04204.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0159 others(2): Show |
5 | 275 | 0.0182 | 22 | c.535 others(39): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02895.hp2 NA18612.hp2 others(5): Show |
a0001a0002a0006 | a0001c0003a0001c0004a0002c0002others(2): Show | a0001c0003t0008a0001c0003t0030a0001c0003t0104others(4): Show | a0001c0003t0008g0095 a0001c0003t0008g0097 a0001c0003t0030g0169 others(5): Show |
8 | 77 | 0.1039 | 22 | c.236 others(41): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18960.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0017a0002c0002t0004 | a0001c0004t0017g0064 a0002c0002t0004g0237 |
2 | 178 | 0.0112 | 22 | c.227 others(41): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500689 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0063 | 1 | 296 | 0.0034 | 22 | c.227 others(41): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp2 |
a0002 | a0002c0005 | a0002c0005t0118a0002c0005t0145 | a0002c0005t0118g0183 a0002c0005t0145g0281 |
2 | 97 | 0.0206 | 22 | c.227 others(41): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0126 | a0002c0002t0126g0203 | 1 | 96 | 0.0104 | 22 | c.227 others(41): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640049 | A | ACTCTCTC others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0146 | a0003c0021t0146g0282 | 1 | 263 | 0.0038 | 22 | c.163 others(39): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269322 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0343 a0002c0004t0001g0353 |
2 | 39 | 0.0513 | 22 | c.962 others(37): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 94 | 0.0106 | 22 | c.480 others(37): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289738 | A | ACCCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 220 | 0.0045 | 22 | c.-36 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 233 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289747 | C | CCGCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0106 others(1): Show |
4 | 345 | 0.0116 | 22 | c.-34 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 242 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCGCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0125 |
2 | 287 | 0.0070 | 22 | c.-35 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCGCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 286 | 0.0035 | 22 | c.-35 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289757 | G | GCCCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG01261.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0096 others(5): Show |
8 | 161 | 0.0497 | 22 | c.-35 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 252 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44302643 | C | CAAAACAC others(15): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0021 | a0001c0017t0021g0054 | 1 | 393 | 0.0025 | 22 | c.236 others(39): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01496.hp2 HG02027.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0114 a0002c0002t0001g0115 others(6): Show |
10 | 130 | 0.0769 | 22 | c.351 others(37): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0220 | 1 | 121 | 0.0083 | 22 | c.351 others(37): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 93 | 0.0108 | 22 | c.-16 others(39): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0246 | 1 | 102 | 0.0098 | 22 | c.-41 others(41): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01074.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0166 others(33): Show |
36 | 137 | 0.2628 | 22 | c.-41 others(41): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 HG01515.hp2 others(19): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0026 a0002c0002t0001g0266 a0002c0002t0001g0340 others(19): Show |
22 | 295 | 0.0746 | 22 | c.71- others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 99 | 0.0101 | 22 | c.71- others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01106.hp2 others(14): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(3): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0009others(9): Show | a0001c0003t0003g0357 a0002c0002t0001g0265 a0002c0002t0009g0087 others(14): Show |
17 | 115 | 0.1478 | 22 | c.71- others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0355 | 1 | 28 | 0.0357 | 22 | c.954 others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01069.hp2 others(26): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0003c0025others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(6): Show | a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0085 others(26): Show |
29 | 185 | 0.1568 | 22 | c.336 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162840 | T | TATACATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(10): Show |
a0002a0009a0014 | a0002c0002a0009c0010a0014c0020others(1): Show | a0002c0002t0001a0002c0002t0005a0009c0010t0006others(2): Show | a0002c0002t0001g0011 a0002c0002t0001g0050 a0002c0002t0001g0078 others(9): Show |
13 | 285 | 0.0456 | 22 | c.336 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0187 | 1 | 176 | 0.0057 | 22 | c.100 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0248 | 1 | 244 | 0.0041 | 22 | c.100 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19054.hp2 NA19081.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 |
3 | 206 | 0.0146 | 22 | c.-17 others(37): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(15): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0020 | a0020c0053 | a0020c0053t0002 | a0020c0053t0002g0129 | 1 | 25 | 0.0400 | 22 | c.382 others(39): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(12): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0001others(17): Show | a0001c0002t0001g0041 a0001c0002t0001g0061 a0001c0002t0001g0163 others(22): Show |
25 | 49 | 0.5102 | 22 | c.382 others(39): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134620 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02818.hp2 HG02886.hp1 others(10): Show |
a0001a0002a0019 | a0001c0004a0001c0009a0001c0015others(6): Show | a0001c0004t0010a0001c0009t0008a0001c0009t0010others(7): Show | a0001c0004t0010g0198 a0001c0009t0008g0188 a0001c0009t0008g0189 others(10): Show |
13 | 164 | 0.0793 | 22 | c.69+ others(37): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0024 | a0024c0014 | a0024c0014t0005 | a0024c0014t0005g0119 | 1 | 3 | 0.3333 | 22 | c.764 others(39): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG02895.hp2 others(4): Show |
a0008a0012a0026others(3): Show | a0008c0013a0012c0012a0026c0027others(3): Show | a0008c0013t0001a0012c0012t0002a0026c0027t0001others(4): Show | a0008c0013t0001g0110 a0012c0012t0002g0056 a0026c0027t0001g0161 others(4): Show |
7 | 82 | 0.0854 | 22 | c.118 others(43): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0067 | a0067c0053 | a0067c0053t0004 | a0067c0053t0004g0122 | 1 | 53 | 0.0189 | 22 | c.148 others(43): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01978.hp1 NA18990.hp2 |
a0001a0007 | a0001c0001a0007c0003 | a0001c0001t0001a0007c0003t0002a0007c0003t0035 | a0001c0001t0001g0121 a0007c0003t0002g0035 a0007c0003t0035g0061 |
3 | 23 | 0.1304 | 22 | c.421 others(38): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137010888 | C | CCCCCACC others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 314 | 0.0064 | 22 | c.605 others(37): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 39/48 | chr9 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0005 | a0001c0004t0003g0335 a0001c0004t0005g0324 |
2 | 18 | 0.1111 | 22 | c.331 others(41): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01123.hp1 others(39): Show |
a0002a0007a0009others(2): Show | a0002c0001a0007c0011a0009c0025others(2): Show | a0002c0001t0002a0002c0001t0031a0002c0001t0032others(4): Show | a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0215 others(39): Show |
42 | 278 | 0.1511 | 22 | c.126 others(39): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATACACA others(15): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 232 | 0.0043 | 22 | c.930 others(37): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18953.hp1 NA18989.hp1 others(1): Show |
a0002a0006 | a0002c0002a0002c0019a0006c0013 | a0002c0002t0002a0002c0019t0002a0006c0013t0001 | a0002c0002t0002g0195 a0002c0002t0002g0212 a0002c0019t0002g0186 others(1): Show |
4 | 47 | 0.0851 | 22 | c.393 others(39): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18960.hp2 NA18975.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0053 | a0001c0001t0001a0002c0053t0001 | a0001c0001t0001g0010 a0001c0001t0001g0213 a0001c0001t0001g0269 others(1): Show |
4 | 91 | 0.0440 | 22 | c.314 others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03490.hp2 |
a0001a0009 | a0001c0005a0009c0010 | a0001c0005t0001a0009c0010t0001 | a0001c0005t0001g0143 a0009c0010t0001g0122 |
2 | 27 | 0.0741 | 22 | c.466 others(39): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar |