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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33276113 | ATAATT | A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(2): Show |
5 | 266 | 0.0188 | -5 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565839 | ACTGCT | A | intron_variant | MODIFIER | HG02602.hp2 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0126 others(3): Show |
6 | 246 | 0.0244 | -5 | c.252 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107530384 | CCAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02615.hp2 others(2): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0006 | a0001c0001t0016a0003c0003t0030a0003c0003t0031others(1): Show | a0001c0001t0016g0210 a0001c0001t0016g0211 a0003c0003t0030g0016 others(2): Show |
5 | 169 | 0.0296 | -5 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107583973 | TTATTA | T | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0030a0003c0003t0031a0007c0006t0046 | a0003c0003t0030g0016 a0003c0003t0031g0005 a0007c0006t0046g0004 |
3 | 218 | 0.0138 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584106 | ATATAT | A | intron_variant | MODIFIER | HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0217 a0001c0001t0002g0102 a0001c0001t0002g0215 others(1): Show |
4 | 220 | 0.0182 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584672 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0105 a0001c0001t0001g0169 a0001c0001t0002g0141 others(24): Show |
27 | 47 | 0.5745 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107602947 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0143 a0001c0001t0002g0065 a0001c0001t0002g0076 others(39): Show |
42 | 216 | 0.1944 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01891.hp1 HG02280.hp2 others(7): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(7): Show | a0001c0001t0001g0115 a0001c0001t0004g0072 a0001c0001t0020g0023 others(7): Show |
10 | 35 | 0.2857 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107625946 | CATATA | C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0210 a0001c0001t0016g0211 |
2 | 220 | 0.0091 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107721359 | TTTTTG | T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0051others(2): Show | a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0046 others(5): Show |
8 | 220 | 0.0364 | -5 | c.405 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107759387 | ATTCAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0064 a0004c0005t0002g0165 |
2 | 220 | 0.0091 | -5 | c.906 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156640414 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01516.hp2 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0251 a0001c0001t0002g0039 a0001c0001t0002g0182 others(3): Show |
6 | 50 | 0.1200 | -5 | c.-18 others(16): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1702 | chr1 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156662397 | CGAAAG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0267 a0001c0001t0002g0001 a0001c0001t0002g0005 others(63): Show |
102 | 418 | 0.2440 | -5 | c.*32 others(16): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2870 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107596572 | TAACTA | T | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 |
3 | 396 | 0.0076 | -5 | c.480 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599305 | AATTTT | A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 others(4): Show |
7 | 396 | 0.0177 | -5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107607511 | TATATC | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 others(4): Show |
7 | 396 | 0.0177 | -5 | c.590 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75232159 | AATTTT | A | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0042 a0001c0003t0001g0155 a0001c0003t0001g0218 others(1): Show |
5 | 390 | 0.0128 | -5 | c.210 others(24): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75253777 | TGGCCG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0003a0001c0033others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0108 a0001c0001t0001g0142 a0001c0001t0001g0171 others(76): Show |
131 | 389 | 0.3368 | -5 | c.-23 others(16): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2154 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93556785 | TTTAAA | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0041 a0003c0004t0001g0089 a0003c0004t0001g0090 others(2): Show |
5 | 200 | 0.0250 | -5 | c.*54 others(16): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 4955 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93568199 | TAAATA | T | intron_variant | MODIFIER | HG01891.hp1 HG01928.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009a0001c0019 | a0001c0001t0001a0001c0009t0001a0001c0019t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(12): Show |
15 | 200 | 0.0750 | -5 | c.197 others(22): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAA | C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03516.hp2 others(2): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0004a0011c0020others(1): Show | a0001c0001t0001a0003c0004t0001a0011c0020t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0074 a0003c0004t0001g0089 others(2): Show |
5 | 83 | 0.0602 | -5 | c.-11 others(20): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53946717 | TGTATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0028others(14): Show | a0001c0001t0009g0183 a0001c0001t0009g0197 a0001c0001t0009g0228 others(27): Show |
30 | 362 | 0.0829 | -5 | c.181 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53952503 | GTTAAA | G | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG01192.hp2 others(4): Show |
a0002a0005 | a0002c0002a0005c0045 | a0002c0002t0001a0002c0002t0034a0002c0002t0040others(3): Show | a0002c0002t0001g0106 a0002c0002t0034g0006 a0002c0002t0040g0054 others(3): Show |
7 | 362 | 0.0193 | -5 | c.181 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53960492 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02723.hp2 others(8): Show |
a0003a0007a0011others(2): Show | a0003c0003a0007c0008a0011c0011others(2): Show | a0003c0003t0022a0007c0008t0001a0007c0008t0010others(4): Show | a0003c0003t0022g0239 a0007c0008t0001g0177 a0007c0008t0010g0179 others(8): Show |
11 | 357 | 0.0308 | -5 | c.148 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53996461 | TAAAAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01978.hp1 others(15): Show |
a0007a0013a0014others(2): Show | a0007c0008a0013c0016a0013c0031others(3): Show | a0007c0008t0001a0007c0008t0008a0007c0008t0009others(9): Show | a0007c0008t0001g0208 a0007c0008t0008g0180 a0007c0008t0008g0196 others(15): Show |
18 | 263 | 0.0684 | -5 | c.724 others(20): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54008700 | TCATAC | T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(2): Show |
a0001a0003a0007others(1): Show | a0001c0017a0003c0003a0007c0008others(1): Show | a0001c0017t0013a0003c0003t0022a0007c0008t0001others(1): Show | a0001c0017t0013g0205 a0003c0003t0022g0239 a0007c0008t0001g0177 others(2): Show |
5 | 362 | 0.0138 | -5 | c.724 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54013266 | ACAACT | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001a0007a0018 | a0001c0017a0007c0008a0018c0024 | a0001c0017t0013a0007c0008t0001a0018c0024t0010 | a0001c0017t0013g0205 a0007c0008t0001g0177 a0018c0024t0010g0238 others(1): Show |
4 | 362 | 0.0110 | -5 | c.723 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54021903 | TTAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(6): Show | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0243 others(10): Show |
14 | 362 | 0.0387 | -5 | c.723 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114563962 | TTACTA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(93): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(36): Show |
96 | 412 | 0.2330 | -5 | c.*41 others(16): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3594 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60673210 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03195.hp1 others(3): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0005t0001 | a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0041 others(3): Show |
6 | 74 | 0.0811 | -5 | c.-47 others(16): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4640 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60706470 | CTTTAT | C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(28): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(28): Show |
31 | 74 | 0.4189 | -5 | c.215 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60782812 | TCTTGA | T | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0002 | a0003c0001t0001g0028 a0003c0001t0002g0022 |
2 | 74 | 0.0270 | -5 | c.404 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60792966 | TATCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01952.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(4): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(8): Show |
11 | 74 | 0.1486 | -5 | c.404 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60831856 | TGTAAA | T | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0002a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0004t0002g0035 a0001c0004t0002g0050 a0001c0004t0002g0072 others(15): Show |
18 | 74 | 0.2432 | -5 | c.476 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60888837 | ATTTTC | A | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(8): Show |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0002a0003c0001t0001a0003c0001t0002 | a0001c0004t0002g0050 a0001c0004t0002g0072 a0003c0001t0001g0005 others(8): Show |
11 | 74 | 0.1486 | -5 | c.662 others(20): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61003372 | GCCCTC | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG01952.hp2 others(11): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(4): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0053 others(11): Show |
14 | 70 | 0.2000 | -5 | c.148 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61019474 | GAATAT | G | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 NA20129.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 a0001c0004t0001g0047 a0001c0004t0001g0049 |
3 | 74 | 0.0405 | -5 | c.163 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61083349 | GTATTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(11): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(39): Show |
42 | 74 | 0.5676 | -5 | c.232 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCT | C | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp1 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(2): Show | a0001c0004t0001g0045 a0001c0004t0002g0044 a0001c0004t0002g0072 others(4): Show |
7 | 43 | 0.1628 | -5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61191780 | AAAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 others(6): Show |
9 | 37 | 0.2432 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61193757 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0002c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(4): Show | a0001c0002t0001g0056 a0001c0002t0002g0054 a0001c0002t0002g0057 others(13): Show |
16 | 40 | 0.4000 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61216516 | GTTTAT | G | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0002a0001c0004t0001a0002c0005t0001 | a0001c0002t0002g0053 a0001c0004t0001g0058 a0002c0005t0001g0073 |
3 | 10 | 0.3000 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796478 | TATATA | T | intron_variant | MODIFIER | HG02083.hp2 NA18968.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0231 a0001c0001t0002g0208 a0001c0001t0003g0206 |
3 | 253 | 0.0119 | -5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50798407 | CTTACG | C | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02145.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0001t0002g0017 a0001c0003t0001g0001 a0001c0004t0001g0006 others(10): Show |
14 | 268 | 0.0522 | -5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50820054 | GCTGGT | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0075 a0001c0001t0001g0198 a0001c0001t0001g0199 others(75): Show |
78 | 268 | 0.2910 | -5 | c.162 others(22): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24808435 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(117): Show |
120 | 146 | 0.8219 | -5 | c.*95 others(16): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1588 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24829776 | AAAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02129.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0130 a0001c0001t0001g0165 others(2): Show |
5 | 320 | 0.0156 | -5 | c.111 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0167 a0001c0001t0002g0001 a0001c0001t0002g0004 others(10): Show |
13 | 108 | 0.1204 | -5 | c.7-1 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24933109 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(52): Show |
55 | 135 | 0.4074 | -5 | c.6+1 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48800976 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(148): Show |
289 | 406 | 0.7118 | -5 | c.301 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar |