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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAR1_chr16_75223181_75256624 | 75234160 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG02683.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0008a0001c0022others(1): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0004others(2): Show | a0001c0003t0003g0005 a0001c0008t0003g0012 a0001c0008t0004g0089 others(2): Show |
5 | 267 | 0.0187 | 8 | c.201 others(25): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(33): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0008a0001c0018others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0008t0003others(6): Show | a0001c0003t0002g0002 a0001c0003t0002g0010 a0001c0003t0002g0011 others(19): Show |
36 | 55 | 0.6545 | 8 | c.13- others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93645638 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01516.hp2 others(25): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(22): Show |
28 | 164 | 0.1707 | 8 | c.318 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93660053 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03225.hp1 HG03834.hp1 others(19): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0015 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(17): Show |
22 | 159 | 0.1384 | 8 | c.317 others(27): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 NA18969.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0019 a0001c0002t0001g0003 a0001c0002t0001g0062 others(1): Show |
5 | 83 | 0.0602 | 8 | c.-11 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53946505 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp1 others(20): Show |
a0005a0006a0015others(5): Show | a0005c0005a0006c0006a0015c0019others(5): Show | a0005c0005t0049a0006c0006t0013a0006c0006t0017others(11): Show | a0005c0005t0049g0266 a0006c0006t0013g0068 a0006c0006t0013g0176 others(20): Show |
23 | 166 | 0.1386 | 8 | c.181 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53952992 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00735.hp1 others(45): Show |
a0004a0009a0012others(9): Show | a0004c0004a0009c0009a0012c0013others(9): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(19): Show | a0004c0004t0001g0291 a0004c0004t0002g0286 a0004c0004t0003g0079 others(45): Show |
48 | 361 | 0.1330 | 8 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01074.hp1 others(24): Show |
a0004a0005a0009others(8): Show | a0004c0004a0005c0005a0009c0009others(8): Show | a0004c0004t0002a0004c0004t0003a0004c0004t0006others(13): Show | a0004c0004t0002g0178 a0004c0004t0003g0083 a0004c0004t0003g0086 others(24): Show |
27 | 53 | 0.5094 | 8 | c.155 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02080.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0007a0001c0001t0015a0001c0001t0048others(10): Show | a0001c0001t0007g0021 a0001c0001t0007g0029 a0001c0001t0007g0030 others(14): Show |
17 | 175 | 0.0971 | 8 | c.927 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54012847 | T | TAGAGTTG others(1): Show |
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 | 8 | c.723 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54041852 | T | TTGTGCCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0007a0001c0017others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0151 a0001c0001t0001g0167 a0001c0001t0001g0168 others(178): Show |
184 | 362 | 0.5083 | 8 | c.143 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54044837 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(6): Show | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0243 others(9): Show |
13 | 262 | 0.0496 | 8 | c.142 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54060569 | G | GCCTTGGC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(48): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0002g0255 a0001c0001t0004g0312 a0001c0001t0004g0327 others(48): Show |
51 | 362 | 0.1409 | 8 | c.-5- others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54065113 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(40): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0001g0151 a0001c0001t0003g0163 a0001c0001t0005g0020 others(40): Show |
43 | 173 | 0.2486 | 8 | c.-6+ others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60753383 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02083.hp1 HG02145.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0065 a0001c0002t0002g0057 others(7): Show |
10 | 36 | 0.2778 | 8 | c.403 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60757363 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02615.hp1 others(8): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0004t0001g0034 others(8): Show |
11 | 33 | 0.3333 | 8 | c.403 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60814294 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040 a0003c0001t0001g0011 |
2 | 74 | 0.0270 | 8 | c.476 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60841546 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(1): Show | a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0063 others(6): Show |
9 | 22 | 0.4091 | 8 | c.477 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60938711 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02145.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0061 others(7): Show |
10 | 42 | 0.2381 | 8 | c.108 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 NA19030.hp1 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0002a0003c0001t0001 | a0001c0004t0002g0035 a0003c0001t0001g0007 a0003c0001t0001g0025 |
3 | 26 | 0.1154 | 8 | c.148 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TCCACACA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0042 a0001c0004t0001g0058 a0002c0005t0001g0073 others(1): Show |
4 | 27 | 0.1481 | 8 | c.148 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03471.hp2 NA19030.hp1 |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0001 | a0002c0005t0001g0051 a0002c0006t0002g0027 a0003c0001t0001g0025 |
3 | 43 | 0.0698 | 8 | c.202 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 NA19043.hp1 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0005 a0003c0001t0001g0031 |
2 | 20 | 0.1000 | 8 | c.203 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070366 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02922.hp2 others(3): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001a0003c0001t0002 | a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 others(3): Show |
6 | 7 | 0.8571 | 8 | c.203 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61095844 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(1): Show |
4 | 52 | 0.0769 | 8 | 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 | 61109283 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 HG03098.hp2 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0026 a0003c0001t0001g0031 |
2 | 43 | 0.0465 | 8 | 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 | 61172987 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01256.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(5): Show | a0001c0002t0001g0056 a0001c0002t0002g0054 a0001c0002t0002g0057 others(17): Show |
20 | 58 | 0.3448 | 8 | 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 | 61220296 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(70): Show |
73 | 74 | 0.9865 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61230142 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001a0002c0005t0002 | a0001c0002t0001g0065 a0002c0005t0001g0020 a0002c0005t0002g0074 |
3 | 10 | 0.3000 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61246792 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 NA20129.hp1 |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0002 | a0002c0005t0001g0073 a0002c0006t0002g0030 a0003c0001t0002g0022 |
3 | 19 | 0.1579 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61271589 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0002 | a0001c0002t0002g0053 a0001c0008t0002g0062 |
2 | 12 | 0.1667 | 8 | 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 | 61350414 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02818.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0004t0001a0002c0003t0001 | a0001c0002t0001g0056 a0001c0004t0001g0047 a0002c0003t0001g0033 |
3 | 39 | 0.0769 | 8 | 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 | 61375218 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG02083.hp1 others(4): Show |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0001others(1): Show | a0002c0005t0001g0019 a0002c0006t0002g0030 a0003c0001t0001g0003 others(4): Show |
7 | 34 | 0.2059 | 8 | c.259 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24824231 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(106): Show |
109 | 188 | 0.5798 | 8 | c.111 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24837096 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(94): Show |
97 | 315 | 0.3079 | 8 | c.818 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01168.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0094 a0001c0001t0003g0034 a0001c0001t0003g0048 others(21): Show |
24 | 88 | 0.2727 | 8 | c.675 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0001g0093 a0001c0001t0001g0205 a0001c0001t0007g0244 others(5): Show |
8 | 170 | 0.0471 | 8 | c.280 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01074.hp1 others(36): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0047 a0001c0001t0001g0093 a0001c0001t0001g0130 others(36): Show |
39 | 61 | 0.6393 | 8 | c.78+ others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24947167 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02572.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0024others(1): Show | a0001c0001t0007g0017 a0001c0001t0009g0287 a0001c0001t0024g0018 others(1): Show |
4 | 66 | 0.0606 | 8 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48793976 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0122 a0001c0001t0001g0162 others(1): Show |
4 | 127 | 0.0315 | 8 | c.*14 others(19): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1087 | chr19 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48804156 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(275): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(141): Show |
278 | 394 | 0.7056 | 8 | c.300 others(25): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(33): Show |
56 | 159 | 0.3522 | 8 | c.-48 others(17): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41429825 | G | GTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(182): Show |
235 | 365 | 0.6438 | 8 | c.*52 others(19): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4824 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80101783 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01109.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0116 others(69): Show |
73 | 240 | 0.3042 | 8 | c.-49 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4887 | chr6 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80107423 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0038 | a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0109 others(1): Show |
4 | 183 | 0.0219 | 8 | c.196 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80134743 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0004g0104 others(42): Show |
46 | 274 | 0.1679 | 8 | c.343 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80197934 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0141 a0001c0001t0004g0104 a0001c0001t0004g0109 others(20): Show |
23 | 139 | 0.1655 | 8 | c.743 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80248902 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 a0001c0001t0005g0174 |
3 | 33 | 0.0909 | 8 | c.952 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31117369 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 |
24 | 176 | 0.1364 | 8 | c.*51 others(19): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4579 | chr16 | TogoVar | |||||||
BCL10_chr1_85260776_85281632 | 85266909 | A | AAAAATAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0026 | a0001c0001t0011g0036 a0001c0001t0011g0063 a0001c0001t0026g0070 |
4 | 444 | 0.0090 | 8 | c.*71 others(17): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 3/3 | 717 | chr1 | TogoVar |