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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAHCC1_chr17_81390457_81471331 | 81391086 | GGGGCGCA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02257.hp1 HG02818.hp2 others(2): Show |
a0001a0002a0020 | a0001c0001a0002c0010a0002c0012others(1): Show | a0001c0001t0001a0002c0010t0015a0002c0010t0033others(2): Show | a0001c0001t0001g0157 a0002c0010t0015g0275 a0002c0010t0033g0135 others(2): Show |
5 | 330 | 0.0152 | -9 | c.-47 others(20): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 4370 | chr17 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81398772 | CGGGCCTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(172): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0016a0001c0051others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(71): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0033 others(169): Show |
175 | 330 | 0.5303 | -9 | c.-20 others(26): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98384693 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 others(37): Show |
40 | 46 | 0.8696 | -9 | c.51+ others(26): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81099429 | GGGCTGAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0037others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0046 others(83): Show |
86 | 374 | 0.2299 | -9 | c.490 others(24): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1344740 | AGCCAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(91): Show |
187 | 356 | 0.5253 | -9 | c.175 others(24): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 19/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839936 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp1 others(2): Show |
a0001a0010 | a0001c0002a0010c0019 | a0001c0002t0001a0001c0002t0003a0010c0019t0004 | a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0003g0054 others(2): Show |
5 | 269 | 0.0186 | -9 | c.469 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | chr4 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87967254 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(50): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0008others(6): Show | a0001c0004t0004a0001c0004t0012a0001c0007t0005others(7): Show | a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(49): Show |
53 | 107 | 0.4953 | -9 | c.-68 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88081403 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp1 others(53): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0014others(1): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(5): Show | a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0015 others(53): Show |
56 | 160 | 0.3500 | -9 | c.*47 others(20): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4088 | chr16 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214751138 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA18939.hp1 NA18995.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0011 | a0002c0001t0001g0163 a0002c0001t0001g0169 a0002c0001t0011g0172 |
3 | 360 | 0.0083 | -9 | c.167 others(28): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0002g0011 |
9 | 23 | 0.3913 | -9 | c.-23 others(20): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG02071.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0058 a0001c0002t0002g0086 a0001c0002t0002g0089 others(10): Show |
13 | 104 | 0.1250 | -9 | c.183 others(26): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0004a0001c0003t0005others(1): Show | a0001c0001t0001g0023 a0001c0002t0004g0364 a0001c0002t0004g0365 others(16): Show |
19 | 63 | 0.3016 | -9 | c.-21 others(20): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73512028 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(8): Show |
11 | 112 | 0.0982 | -9 | c.108 others(26): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159368858 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0019others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 others(107): Show |
110 | 177 | 0.6215 | -9 | c.421 others(28): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 27/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159541259 | CTTATTAT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0102 |
2 | 83 | 0.0241 | -9 | c.-3+ others(26): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159553392 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01169.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 others(9): Show |
12 | 78 | 0.1538 | -9 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128159754 | TCCCCCCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(177): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(27): Show |
180 | 184 | 0.9783 | -9 | c.-65 others(18): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 510 | chr9 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74046402 | CATCCAGG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0001a0005a0009others(2): Show | a0001c0001a0001c0008a0005c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0022 others(125): Show |
136 | 384 | 0.3542 | -9 | c.647 others(24): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27066630 | CCATGGAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(105): Show |
126 | 316 | 0.3987 | -9 | c.334 others(26): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00733.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0023a0001c0001t0044others(1): Show | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0143 others(8): Show |
17 | 29 | 0.5862 | -9 | c.386 others(26): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121868684 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0008 others(55): Show |
82 | 120 | 0.6833 | -9 | c.37- others(22): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107583950 | TTATATTA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0074 a0001c0001t0003g0082 others(5): Show |
8 | 220 | 0.0364 | -9 | c.-84 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107583990 | ATTATTAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01070.hp1 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(17): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 others(30): Show |
33 | 219 | 0.1507 | -9 | c.-84 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01175.hp1 HG01255.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0093 a0001c0001t0001g0148 a0001c0001t0001g0172 others(10): Show |
13 | 38 | 0.3421 | -9 | c.-83 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107700411 | CATCATTA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01256.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0058others(3): Show | a0001c0001t0001g0020 a0001c0001t0004g0183 a0001c0001t0058g0014 others(7): Show |
10 | 157 | 0.0637 | -9 | c.-9- others(26): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107700414 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01346.hp2 others(24): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0001t0002g0048 others(24): Show |
27 | 182 | 0.1484 | -9 | c.-9- others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02129.hp1 others(8): Show |
a0002a0017 | a0002c0002a0002c0004a0002c0005others(1): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0026others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0023 others(6): Show |
11 | 30 | 0.3667 | -9 | c.13- others(24): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93564290 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(8): Show |
11 | 53 | 0.2075 | -9 | c.230 others(28): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02683.hp2 others(8): Show |
a0001a0002a0012 | a0001c0001a0002c0006a0012c0015 | a0001c0001t0001a0002c0006t0001a0012c0015t0001 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(8): Show |
11 | 89 | 0.1236 | -9 | c.-11 others(24): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53950140 | CACAGCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0035others(11): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(28): Show | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0012g0026 others(68): Show |
72 | 362 | 0.1989 | -9 | c.181 others(28): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53950147 | CGTACAGC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(141): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0017others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0069 a0001c0001t0002g0173 a0001c0001t0002g0221 others(137): Show |
144 | 362 | 0.3978 | -9 | c.181 others(28): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60782561 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0002a0003 | a0002c0005a0003c0001 | a0002c0005t0001a0003c0001t0001a0003c0001t0002 | a0002c0005t0001g0018 a0002c0005t0001g0020 a0003c0001t0001g0028 others(1): Show |
4 | 20 | 0.2000 | -9 | c.404 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60920870 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001 | a0001c0004t0001g0058 a0002c0003t0001g0041 |
2 | 5 | 0.4000 | -9 | c.994 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61059063 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp2 NA18906.hp1 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0006 | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0002g0057 a0001c0004t0001g0046 a0001c0004t0002g0044 others(1): Show |
4 | 9 | 0.4444 | -9 | c.203 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61156020 | AAAGTGAC others(2): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0003a0002c0005 | a0001c0008t0002a0002c0003t0001a0002c0005t0001 | a0001c0008t0002g0062 a0002c0003t0001g0015 a0002c0003t0001g0016 others(2): Show |
5 | 74 | 0.0676 | -9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61272636 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 HG03139.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0009 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0042 a0001c0002t0002g0001 a0002c0005t0001g0020 others(1): Show |
4 | 13 | 0.3077 | -9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG01891.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0064 a0001c0001t0002g0252 a0001c0001t0002g0259 others(24): Show |
27 | 149 | 0.1812 | -9 | c.6+2 others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48791917 | GATTCAAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG01258.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 others(20): Show |
31 | 406 | 0.0764 | -9 | c.*35 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3146 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80177225 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(129): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(129): Show |
132 | 180 | 0.7333 | -9 | c.742 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467147 | ATGGTGGT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0016a0001c0001t0018others(1): Show | a0001c0001t0003g0167 a0001c0001t0016g0253 a0001c0001t0018g0208 others(1): Show |
4 | 257 | 0.0156 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467213 | GTACTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02300.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012 | a0001c0001t0003g0152 a0001c0001t0009g0203 a0001c0001t0009g0204 others(1): Show |
4 | 260 | 0.0154 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467275 | GGTGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0054 | a0001c0001t0001g0021 a0001c0001t0005g0232 a0001c0001t0054g0193 |
3 | 254 | 0.0118 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467306 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02897.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0098 a0001c0001t0007g0109 a0001c0001t0007g0112 others(2): Show |
5 | 258 | 0.0194 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467323 | GGTGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0045a0001c0002t0001 | a0001c0001t0012g0212 a0001c0001t0045g0113 a0001c0002t0001g0060 |
3 | 260 | 0.0115 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467405 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02723.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0001t0063a0001c0002t0001 | a0001c0001t0045g0113 a0001c0001t0063g0233 a0001c0002t0001g0060 |
3 | 259 | 0.0116 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467533 | GGTGATGG others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0032a0001c0001t0064others(1): Show | a0001c0001t0021g0092 a0001c0001t0032g0037 a0001c0001t0064g0246 others(1): Show |
4 | 251 | 0.0159 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467534 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0064 others(17): Show |
20 | 250 | 0.0800 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99198686 | TGCACCTT others(2): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0005g0339 others(4): Show |
7 | 348 | 0.0201 | -9 | c.641 others(28): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99269875 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG00741.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0064 others(6): Show |
9 | 63 | 0.1429 | -9 | c.58+ others(24): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99276108 | AAAGAAGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 NA18522.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0017 | a0001c0001t0002g0065 a0001c0001t0010g0067 a0001c0002t0017g0066 |
3 | 189 | 0.0159 | -9 | c.-48 others(20): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3912 | chr14 | TogoVar |