regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAR3_chr1_93556741_93686837 | 93643545 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 202 | 0.0050 | -12 | c.318 others(29): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 202 | 0.0050 | -12 | c.-11 others(27): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53954294 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0312 | 1 | 364 | 0.0028 | -12 | c.155 others(29): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53954324 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0041 | a0001c0001t0030g0247a0001c0001t0041g0052 | 2 | 364 | 0.0055 | -12 | c.155 others(29): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54053442 | CTCTCACA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 |
a0001a0013 | a0001c0017a0013c0013 | a0001c0017t0012a0013c0013t0002 | a0001c0017t0012g0207a0013c0013t0002g0155 | 2 | 364 | 0.0055 | -12 | c.142 others(29): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54065113 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01943.hp2 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0006 | a0002c0002t0001g0134a0002c0002t0001g0147a0002c0002t0001g0215others(3): Show | 6 | 364 | 0.0165 | -12 | c.-6+ others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114568755 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002 | a0001c0001t0002g0053a0001c0001t0002g0206a0001c0001t0002g0207others(8): Show | 13 | 414 | 0.0314 | -12 | c.552 others(27): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676637 | TTATGTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02897.hp1 HG02970.hp2 NA19240.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0006 | a0001c0002t0001a0001c0008t0002a0002c0006t0002 | a0001c0002t0001g0060a0001c0002t0001g0067a0001c0008t0002g0062others(1): Show | 4 | 74 | 0.0541 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1213 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676673 | GTATGTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02145.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0001a0001c0002t0002a0003c0001t0001 | a0001c0002t0001g0059a0001c0002t0002g0057a0001c0002t0002g0069others(2): Show | 5 | 74 | 0.0676 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1177 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676677 | GTATGTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0002a0003c0001t0002 | a0001c0002t0002g0053a0003c0001t0002g0022 | 2 | 74 | 0.0270 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1173 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676681 | GTATCTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0011 | 1 | 74 | 0.0135 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1169 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60683505 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0018a0002c0005t0001g0019 | 2 | 74 | 0.0270 | -12 | c.84- others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60736912 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(13): Show | 16 | 74 | 0.2162 | -12 | c.322 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001 | a0001c0004t0001g0043a0001c0004t0001g0047a0001c0004t0001g0049others(1): Show | 4 | 74 | 0.0541 | -12 | c.403 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60757394 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 74 | 0.0135 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0008a0002c0003a0002c0005 | a0001c0008t0002a0002c0003t0001a0002c0005t0001 | a0001c0008t0002g0062a0002c0003t0001g0038a0002c0005t0001g0019others(1): Show | 4 | 74 | 0.0541 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60770834 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0007others(1): Show | a0001c0002t0002a0001c0004t0001a0002c0007t0001others(1): Show | a0001c0002t0002g0054a0001c0004t0001g0047a0002c0007t0001g0004others(1): Show | 4 | 74 | 0.0541 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60847189 | TATTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG01952.hp1 others(27): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0004t0001g0034a0001c0004t0001g0043a0001c0004t0001g0045others(27): Show | 30 | 74 | 0.4054 | -12 | c.477 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60920870 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02897.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0003 | a0001c0002t0001a0001c0008t0002a0002c0003t0002 | a0001c0002t0001g0059a0001c0002t0001g0063a0001c0002t0001g0065others(4): Show | 7 | 74 | 0.0946 | -12 | c.994 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60921612 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0043a0001c0004t0001g0045a0001c0004t0001g0047others(2): Show | 5 | 74 | 0.0676 | -12 | c.994 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61059063 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 74 | 0.0135 | -12 | c.203 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61089509 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0002t0001g0060a0001c0004t0002g0035a0001c0004t0002g0050others(7): Show | 10 | 74 | 0.1351 | -12 | 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 | 61166387 | CTCTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0074 | 1 | 74 | 0.0135 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61271589 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02818.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056a0001c0002t0001g0066a0001c0002t0002g0070others(5): Show | 8 | 74 | 0.1081 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61287727 | AAAAACAA others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 | 1 | 74 | 0.0135 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61367798 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA18906.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0071a0001c0004t0001g0046 | 2 | 74 | 0.0270 | -12 | 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 | 61388959 | ATCATTCA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 HG03225.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0004t0001g0046others(4): Show | 7 | 74 | 0.0946 | -12 | c.259 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796485 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 270 | 0.0037 | -12 | c.90+ others(27): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50872232 | CCAGCCTG others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp1 NA18965.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027a0002c0002t0001g0037 | 2 | 270 | 0.0074 | -12 | c.400 others(29): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24823218 | ATTTGTTT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(63): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(167): Show | 170 | 322 | 0.5280 | -12 | c.112 others(31): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24829019 | GTAAATAA others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0041a0001c0001t0103 | a0001c0001t0015g0026a0001c0001t0015g0027a0001c0001t0015g0028others(3): Show | 6 | 322 | 0.0186 | -12 | c.111 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24835551 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01993.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0116 | a0001c0001t0054g0174a0001c0001t0116g0114 | 2 | 322 | 0.0062 | -12 | c.903 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836896 | AGAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0097a0001c0001t0120 | a0001c0001t0097g0073a0001c0001t0120g0152 | 2 | 322 | 0.0062 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836908 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0096 | a0001c0001t0014g0084a0001c0001t0096g0124 | 2 | 322 | 0.0062 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836949 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0280 | 1 | 322 | 0.0031 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24910378 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0047others(144): Show | 147 | 322 | 0.4565 | -12 | c.7-8 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 322 | 0.0031 | -12 | c.7-1 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0115a0001c0001t0001g0210others(37): Show | 40 | 322 | 0.1242 | -12 | c.6+2 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24947167 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02572.hp1 HG02602.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0060a0001c0001t0003g0048a0001c0001t0003g0052others(10): Show | 13 | 322 | 0.0404 | -12 | c.6+1 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48809066 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 408 | 0.0025 | -12 | c.24+ others(27): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125832800 | ATCTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp2 others(39): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0023others(12): Show | 42 | 446 | 0.0942 | -12 | c.600 others(27): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BCDIN3D_chr12_49831043_49848106 | 49837270 | GTTGTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025 | a0001c0001t0024g0051a0001c0001t0025g0028 | 2 | 420 | 0.0048 | -12 | c.*10 others(23): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 2/2 | 1089 | chr12 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80101811 | TAAATAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0135 | 1 | 294 | 0.0034 | -12 | c.-48 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4859 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80128872 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0114a0001c0003t0003g0095 | 2 | 294 | 0.0068 | -12 | c.275 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80230026 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0103a0001c0001t0014g0104a0001c0001t0014g0105 | 3 | 294 | 0.0102 | -12 | c.951 others(31): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80322889 | CTTTTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0092 | 1 | 294 | 0.0034 | -12 | c.103 others(33): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDK_chr16_31103386_31117791 | 31103564 | ACTCTCCC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02135.hp1 HG02165.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 3 | 300 | 0.0100 | -12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4821 | chr16 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31103595 | CTCTCCGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02647.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0002a0004c0006t0001g0004 | 2 | 300 | 0.0067 | -12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4790 | chr16 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467239 | GATGGTGG others(5): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0083 | 1 | 262 | 0.0038 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467390 | GTGGTGAT others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01169.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0043a0001c0001t0001g0046others(24): Show | 27 | 262 | 0.1031 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar |