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 | 42722157 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(36): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 others(35): Show |
39 | 100 | 0.3900 | -9 | c.-15 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02083.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0002t0005a0002c0008t0001 | a0001c0001t0002g0002 a0001c0001t0002g0104 a0001c0001t0002g0110 others(9): Show |
12 | 75 | 0.1600 | -9 | c.-16 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
AADACL3_chr1_12711110_12733760 | 12722341 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01243.hp1 others(20): Show |
a0002a0005a0007 | a0002c0019a0005c0006a0005c0014others(3): Show | a0002c0019t0017a0005c0006t0006a0005c0006t0017others(5): Show | a0002c0019t0017g0007 a0005c0006t0006g0007 a0005c0006t0017g0048 others(7): Show |
23 | 430 | 0.0535 | -9 | c.449 others(26): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67196162 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 others(27): Show |
36 | 49 | 0.7347 | -9 | c.*66 others(20): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4504 | chr15 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01070.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 others(6): Show |
11 | 117 | 0.0940 | -9 | c.-49 others(26): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258859 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(68): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(40): Show |
71 | 296 | 0.2399 | -9 | c.*31 others(20): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1927 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70248771 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0338 others(19): Show |
22 | 202 | 0.1089 | -9 | c.*39 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3526 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70287367 | GCAGCGAG others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show |
25 | 360 | 0.0694 | -9 | c.-22 others(26): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44299035 | CCTATCCC others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp2 others(2): Show |
a0001a0012 | a0001c0002a0012c0015 | a0001c0002t0007a0012c0015t0007 | a0001c0002t0007g0014 a0012c0015t0007g0079 |
5 | 394 | 0.0127 | -9 | c.*15 others(20): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 1503 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42946345 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03139.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 3 | 319 | 0.0094 | -9 | c.*42 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4180 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965117 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(168): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(72): Show |
171 | 191 | 0.8953 | -9 | c.-68 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 664 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967411 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp1 NA19010.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0079 |
3 | 317 | 0.0095 | -9 | c.-29 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2958 | chr17 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(100): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(86): Show |
103 | 177 | 0.5819 | -9 | c.-16 others(26): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001447 | GGAAGGAA others(2): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG02486.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0005c0010t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0002g0107 others(1): Show |
4 | 244 | 0.0164 | -9 | c.139 others(30): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37014267 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(9): Show |
12 | 156 | 0.0769 | -9 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37020406 | TAACAATT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0031 others(13): Show |
16 | 244 | 0.0656 | -9 | c.146 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81125038 | GGCAGGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(82): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(307): Show |
329 | 366 | 0.8989 | -9 | c.756 others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8724737 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01081.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0119 others(43): Show |
46 | 360 | 0.1278 | -9 | c.-41 others(28): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69230497 | CTTTACAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02630.hp1 others(8): Show |
a0003a0005a0006others(2): Show | a0003c0003a0005c0005a0006c0016others(2): Show | a0003c0003t0001a0005c0005t0004a0006c0016t0004others(2): Show | a0003c0003t0001g0261 a0005c0005t0004g0185 a0005c0005t0004g0220 others(8): Show |
11 | 346 | 0.0318 | -9 | c.-22 others(20): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1674 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01943.hp1 others(5): Show |
a0001a0002a0005 | a0001c0005a0001c0009a0001c0016others(2): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(4): Show | a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 others(5): Show |
8 | 101 | 0.0792 | -9 | c.457 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0011 | a0001c0001t0002g0130 a0001c0002t0001g0027 a0001c0002t0001g0051 others(2): Show |
5 | 23 | 0.2174 | -9 | c.178 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215040822 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01975.hp2 others(26): Show |
a0002a0008a0015 | a0002c0007a0002c0008a0002c0013others(8): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(16): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(26): Show |
29 | 196 | 0.1480 | -9 | c.873 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02572.hp1 others(10): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0007others(6): Show | a0001c0001t0013a0001c0002t0024a0002c0007t0002others(7): Show | a0001c0001t0013g0044 a0001c0002t0024g0178 a0002c0007t0002g0105 others(10): Show |
13 | 15 | 0.8667 | -9 | c.164 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02293.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0011a0001c0045a0002c0007others(3): Show | a0001c0011t0001a0001c0045t0004a0002c0007t0003others(4): Show | a0001c0011t0001g0085 a0001c0045t0004g0067 a0002c0007t0003g0069 others(6): Show |
9 | 38 | 0.2368 | -9 | c.69+ others(24): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48178975 | CTAATAAT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00738.hp2 others(25): Show |
a0001a0002a0004others(19): Show | a0001c0001a0002c0002a0002c0022others(22): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(25): Show | a0001c0001t0001g0133 a0001c0001t0004g0164 a0002c0002t0002g0156 others(25): Show |
28 | 92 | 0.3043 | -9 | c.69+ others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48422055 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02055.hp2 HG02572.hp1 others(10): Show |
a0003a0007a0008others(8): Show | a0003c0003a0007c0102a0008c0013others(8): Show | a0003c0003t0004a0007c0102t0001a0008c0013t0001others(9): Show | a0003c0003t0004g0029 a0007c0102t0001g0020 a0008c0013t0001g0110 others(10): Show |
13 | 30 | 0.4333 | -9 | c.124 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48531731 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0005a0006a0007others(8): Show | a0005c0063a0006c0024a0007c0102others(8): Show | a0005c0063t0001a0006c0024t0001a0007c0102t0001others(9): Show | a0005c0063t0001g0010 a0006c0024t0001g0019 a0007c0102t0001g0020 others(11): Show |
14 | 42 | 0.3333 | -9 | c.143 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48554822 | TTTATTAT others(2): Show |
T | 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 | 153 | 0.2353 | -9 | c.143 others(32): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104893421 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02559.hp1 HG02723.hp1 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0015a0003c0038a0004c0043others(1): Show | a0002c0015t0002a0002c0015t0013a0003c0038t0005others(2): Show | a0002c0015t0002g0314 a0002c0015t0013g0001 a0003c0038t0005g0306 others(3): Show |
7 | 119 | 0.0588 | -9 | c.67- others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2307016 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(46): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0002t0001g0001 others(45): Show |
49 | 193 | 0.2539 | -9 | c.128 others(28): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94113676 | AATGACTG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00733.hp1 others(40): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0193 others(40): Show |
43 | 304 | 0.1414 | -9 | c.67- others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94122525 | TTGATGAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02486.hp2 HG02647.hp1 others(6): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0031a0003c0067others(6): Show | a0001c0001t0001a0003c0031t0004a0003c0067t0001others(6): Show | a0001c0001t0001g0127 a0003c0031t0004g0131 a0003c0067t0001g0125 others(6): Show |
9 | 125 | 0.0720 | -9 | c.-14 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1378 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124141 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02257.hp1 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0004a0001c0005a0001c0006others(24): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(24): Show | a0001c0004t0001g0044 a0001c0004t0001g0234 a0001c0005t0001g0167 others(29): Show |
32 | 230 | 0.1391 | -9 | c.-31 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2994 | chr1 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904291 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0203 a0001c0002t0001g0243 |
3 | 135 | 0.0222 | -9 | c.239 others(26): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958822 | ATATTATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01258.hp1 HG01516.hp1 |
a0001 | a0001c0001a0001c0004a0001c0044 | a0001c0001t0001a0001c0004t0001a0001c0044t0001 | a0001c0001t0001g0231 a0001c0004t0001g0195 a0001c0044t0001g0212 |
3 | 129 | 0.0233 | -9 | c.-37 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3431 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958834 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02615.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0004t0001a0002c0006t0001 | a0001c0001t0001g0229 a0001c0004t0001g0189 a0002c0006t0001g0164 |
3 | 272 | 0.0110 | -9 | c.-37 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3443 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229557228 | TCACAGGC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(106): Show |
113 | 282 | 0.4007 | -9 | c.517 others(24): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169029724 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(15): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(53): Show |
58 | 186 | 0.3118 | -9 | c.-28 others(26): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502505 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0009others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(6): Show | a0001c0001t0001g0068 a0001c0001t0001g0265 a0001c0001t0001g0286 others(20): Show |
23 | 349 | 0.0659 | -9 | c.*17 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 511 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502523 | TATAAAAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02886.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0011a0001c0005t0016a0002c0002t0002others(1): Show | a0001c0001t0011g0249 a0001c0005t0016g0096 a0002c0002t0002g0175 others(2): Show |
5 | 348 | 0.0144 | -9 | c.*17 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 493 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20630844 | ATTCTAAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp2 others(112): Show |
a0002a0005a0007others(30): Show | a0002c0003a0002c0012a0002c0014others(44): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(59): Show | a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 others(112): Show |
115 | 358 | 0.3212 | -9 | c.260 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20656906 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00609.hp1 others(73): Show |
a0002a0007a0010others(15): Show | a0002c0003a0002c0012a0002c0014others(26): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0007others(37): Show | a0002c0003t0001g0347 a0002c0003t0003g0004 a0002c0003t0003g0006 others(73): Show |
76 | 320 | 0.2375 | -9 | c.153 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691168 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02647.hp2 others(3): Show |
a0005a0007a0012others(2): Show | a0005c0015a0007c0011a0012c0026others(3): Show | a0005c0015t0004a0007c0011t0004a0012c0026t0006others(3): Show | a0005c0015t0004g0215 a0007c0011t0004g0073 a0012c0026t0006g0072 others(3): Show |
6 | 33 | 0.1818 | -9 | c.201 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20758300 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(81): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0002c0003others(41): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(46): Show | a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 others(81): Show |
84 | 334 | 0.2515 | -9 | c.*26 others(20): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1293 | chr7 | TogoVar | |||||||
ABCB8_chr7_151023450_151052782 | 151029499 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp2 others(23): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0004 | a0002c0003t0004g0007 a0002c0003t0004g0008 a0002c0003t0004g0011 others(6): Show |
26 | 398 | 0.0653 | -9 | c.95+ others(22): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43429354 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0002c0003t0001g0046 |
3 | 340 | 0.0088 | -9 | c.161 others(26): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944841 | GTTATTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02886.hp2 others(7): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0005others(7): Show | a0001c0001t0003g0008 a0001c0001t0004g0118 a0001c0002t0005g0117 others(7): Show |
10 | 80 | 0.1250 | -9 | c.-49 others(20): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4774 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15992495 | GTTCCAGC others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00642.hp1 others(23): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(19): Show | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0008g0246 others(23): Show |
26 | 248 | 0.1048 | -9 | c.49- others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16006912 | ATGATGGT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(66): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0069 others(66): Show |
69 | 248 | 0.2782 | -9 | c.49- others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16108273 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0017 a0001c0001t0001g0248 a0001c0001t0003g0061 others(63): Show |
66 | 119 | 0.5546 | -9 | c.287 others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |