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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAP29_chr7_107575246_107625478 | 107603935 | ATTCAGT | A | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 |
3 | 396 | 0.0076 | -6 | c.589 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107612391 | TTATATA | T | intron_variant | MODIFIER | HG02083.hp1 NA18962.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0002g0291 a0001c0001t0002g0301 |
3 | 111 | 0.0270 | -6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75234160 | GACAGAC | G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02717.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0002c0020others(3): Show | a0001c0001t0002a0002c0005t0001a0002c0020t0001others(4): Show | a0001c0001t0002g0020 a0002c0005t0001g0156 a0002c0020t0001g0045 others(5): Show |
13 | 275 | 0.0473 | -6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75234164 | GACACAC | G | intron_variant | MODIFIER | HG02922.hp1 HG03486.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 a0001c0003t0001g0155 a0001c0003t0001g0174 |
3 | 226 | 0.0133 | -6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93593728 | AAACAAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01516.hp2 others(28): Show |
a0001a0008a0013 | a0001c0001a0001c0002a0008c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0008c0011t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(25): Show |
31 | 165 | 0.1879 | -6 | c.358 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93621862 | GTTTTGT | G | intron_variant | MODIFIER | HG01361.hp2 HG01952.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0160 a0001c0001t0001g0162 others(2): Show |
5 | 200 | 0.0250 | -6 | c.357 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0067 others(5): Show |
8 | 86 | 0.0930 | -6 | c.-11 others(21): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53946516 | TATATAC | 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 | -6 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954294 | GGAGAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0017a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(22): Show | a0001c0001t0001g0184 a0001c0001t0003g0163 a0001c0001t0009g0257 others(27): Show |
30 | 56 | 0.5357 | -6 | c.155 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53960491 | AAAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01167.hp2 others(18): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0008others(5): Show | a0001c0001t0001a0002c0002t0016a0007c0008t0001others(10): Show | a0001c0001t0001g0184 a0002c0002t0016g0283 a0007c0008t0001g0150 others(18): Show |
21 | 362 | 0.0580 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53960493 | AAAAGAG | A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01069.hp2 others(37): Show |
a0004a0009a0012others(7): Show | a0004c0004a0009c0009a0012c0013others(7): Show | a0004c0004t0002a0004c0004t0003a0004c0004t0006others(16): Show | a0004c0004t0002g0178 a0004c0004t0002g0286 a0004c0004t0003g0079 others(37): Show |
40 | 362 | 0.1105 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53962653 | AATATGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0017a0002c0002others(9): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0037others(16): Show | a0001c0001t0009g0257 a0001c0001t0010g0076 a0001c0001t0037g0356 others(23): Show |
26 | 362 | 0.0718 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54043325 | TGATGAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG03209.hp2 others(1): Show |
a0001a0002a0025 | a0001c0001a0002c0002a0025c0037 | a0001c0001t0009a0001c0001t0010a0002c0002t0010others(1): Show | a0001c0001t0009g0257 a0001c0001t0010g0076 a0002c0002t0010g0242 others(1): Show |
4 | 362 | 0.0110 | -6 | c.143 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114576431 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(93): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(36): Show |
96 | 387 | 0.2481 | -6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60752155 | GGTGTGT | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(12): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(12): Show |
15 | 48 | 0.3125 | -6 | c.403 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACAC | T | intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0001a0002c0006t0002 | a0001c0004t0001g0058 a0002c0006t0002g0030 |
2 | 24 | 0.0833 | -6 | c.403 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60782561 | GTTATTA | G | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(5): Show | a0001c0004t0001g0045 a0001c0004t0001g0058 a0001c0004t0002g0050 others(15): Show |
18 | 34 | 0.5294 | -6 | c.404 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60803046 | AGTGCCC | A | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0002 | a0003c0001t0001g0028 a0003c0001t0002g0022 |
2 | 74 | 0.0270 | -6 | c.404 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60814269 | TTGTGTG | T | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03130.hp2 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001 | a0002c0005t0001g0018 a0002c0005t0001g0020 a0002c0007t0001g0004 |
3 | 68 | 0.0441 | -6 | c.476 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60920870 | AAACAAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02886.hp1 others(3): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(1): Show | a0002c0003t0001g0015 a0002c0003t0001g0037 a0002c0003t0002g0036 others(3): Show |
6 | 9 | 0.6667 | -6 | c.994 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | TACACAC | T | intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038 a0002c0003t0001g0041 |
2 | 25 | 0.0800 | -6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61018290 | GTTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02083.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0053 others(14): Show |
17 | 39 | 0.4359 | -6 | c.163 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067271 | GTGTATA | G | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 NA20129.hp1 |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0002 | a0002c0005t0001g0020 a0002c0005t0001g0073 a0002c0006t0002g0030 |
3 | 60 | 0.0500 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067720 | AACAAAC | A | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 others(11): Show |
14 | 66 | 0.2121 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070366 | AATATAT | A | intron_variant | MODIFIER | HG02083.hp2 HG02559.hp1 HG02922.hp1 others(6): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0004t0001g0045 a0001c0004t0002g0044 a0002c0003t0001g0038 others(6): Show |
9 | 10 | 0.9000 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070938 | AAACAAC | A | intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040 a0003c0001t0001g0011 |
2 | 74 | 0.0270 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61089509 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(3): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(3): Show | a0001c0002t0001g0071 a0001c0004t0001g0058 a0002c0005t0001g0051 others(3): Show |
6 | 11 | 0.5455 | -6 | c.242 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0053 others(22): Show |
25 | 61 | 0.4098 | -6 | c.242 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61193757 | CAAAAAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02897.hp1 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0008t0002others(2): Show | a0001c0002t0001g0042 a0001c0004t0001g0049 a0001c0008t0002g0062 others(4): Show |
7 | 31 | 0.2258 | -6 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61246792 | AGTGTGT | A | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0003t0003others(1): Show | a0001c0002t0002g0064 a0001c0004t0002g0044 a0002c0003t0003g0013 others(2): Show |
5 | 21 | 0.2381 | -6 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61361201 | AAAAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0006t0002others(1): Show | a0001c0002t0001g0056 a0001c0004t0001g0047 a0002c0006t0002g0030 others(1): Show |
4 | 74 | 0.0541 | -6 | c.242 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61371322 | TGTAACA | T | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0061 a0001c0002t0001g0067 a0002c0005t0001g0051 |
3 | 74 | 0.0405 | -6 | c.259 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24827905 | CTTTTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0017others(12): Show | a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 others(29): Show |
32 | 320 | 0.1000 | -6 | c.111 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836906 | GAGAGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00735.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0004 others(31): Show |
34 | 254 | 0.1339 | -6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836955 | AAAAGAG | A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0025g0282 |
3 | 292 | 0.0103 | -6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24857478 | TTATCTA | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(51): Show |
54 | 305 | 0.1770 | -6 | c.511 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0189 others(22): Show |
25 | 120 | 0.2083 | -6 | c.7-1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0037 a0001c0001t0001g0180 a0001c0001t0001g0189 others(17): Show |
20 | 142 | 0.1408 | -6 | c.6+2 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24933109 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(101): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0060 others(101): Show |
104 | 184 | 0.5652 | -6 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24947167 | CCACACA | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0060others(3): Show | a0001c0001t0001g0019 a0001c0001t0002g0020 a0001c0001t0060g0097 others(3): Show |
6 | 68 | 0.0882 | -6 | c.6+1 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24951590 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0252 a0001c0001t0006g0237 a0001c0001t0007g0230 others(6): Show |
9 | 10 | 0.9000 | -6 | c.-26 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48793976 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG03491.hp1 NA18994.hp2 NA18995.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0002c0002t0001g0007 |
4 | 127 | 0.0315 | -6 | c.*14 others(17): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1087 | chr19 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165821916 | TGGTGAA | T | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0235 others(11): Show |
17 | 302 | 0.0563 | -6 | c.151 others(25): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80128872 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0004g0104 others(50): Show |
54 | 102 | 0.5294 | -6 | c.275 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80205831 | TGTGTAG | T | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01081.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 others(7): Show |
10 | 292 | 0.0342 | -6 | c.951 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31103564 | ACTCTCC | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01496.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 |
10 | 261 | 0.0383 | -6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4821 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103595 | CTCTCCG | C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(1): Show |
25 | 160 | 0.1563 | -6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4790 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467201 | ATGGCGG | A | intron_variant | MODIFIER | HG00099.hp1 NA19065.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0051a0001c0001t0052 | a0001c0001t0010g0056 a0001c0001t0051g0157 a0001c0001t0052g0165 |
3 | 253 | 0.0119 | -6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467246 | GTGGTAA | G | intron_variant | MODIFIER | HG00099.hp1 NA19065.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0051a0001c0001t0052 | a0001c0001t0010g0056 a0001c0001t0051g0157 a0001c0001t0052g0165 |
3 | 260 | 0.0115 | -6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467282 | GTAGTGA | G | intron_variant | MODIFIER | HG00733.hp1 HG02615.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0010 | a0001c0001t0007g0098 a0001c0001t0007g0109 a0001c0001t0007g0112 others(3): Show |
6 | 260 | 0.0231 | -6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar |