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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS2_chr1_114562557_114586615 | 114576247 | C | CTCTCTA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0203a0001c0001t0003g0024a0001c0001t0003g0100others(1): Show | 6 | 414 | 0.0145 | 6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114576431 | T | TTTATTA | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0191a0001c0001t0001g0192 | 5 | 414 | 0.0121 | 6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114583493 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0002g0034a0001c0001t0002g0105others(7): Show | 11 | 414 | 0.0266 | 6 | c.-19 others(17): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1879 | chr1 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60690921 | A | AAAAAAC | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0002t0001g0061others(12): Show | 15 | 74 | 0.2027 | 6 | c.214 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60754565 | A | AACTCAT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0002t0001g0056a0001c0002t0001g0059a0001c0002t0001g0060others(32): Show | 35 | 74 | 0.4730 | 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 | 60757392 | A | ATGTGTG | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0043a0001c0004t0001g0045a0001c0004t0001g0047others(2): Show | 5 | 74 | 0.0676 | 6 | 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 | 60757394 | A | ATGTGTG | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG02897.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0063a0001c0002t0001g0065a0001c0002t0001g0066others(10): Show | 13 | 74 | 0.1757 | 6 | 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 | 60761430 | T | TCAATTC | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(55): Show | 58 | 74 | 0.7838 | 6 | 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 | 60782561 | G | GTTATTA | intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056a0001c0002t0001g0061a0001c0002t0001g0067others(9): Show | 12 | 74 | 0.1622 | 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 | 60802371 | C | CATATAT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0002t0001g0061others(13): Show | 16 | 74 | 0.2162 | 6 | c.404 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60814300 | T | TGCGCGC | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0002c0005t0001 | a0001c0002t0001g0071a0001c0002t0002g0064a0002c0005t0001g0051 | 3 | 74 | 0.0405 | 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 | 60814300 | T | TGTGCGC | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0008t0002 | a0001c0002t0001g0059a0001c0002t0001g0063a0001c0002t0001g0065others(7): Show | 10 | 74 | 0.1351 | 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 | 60911123 | C | CTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0002t0001g0061others(14): Show | 17 | 74 | 0.2297 | 6 | c.993 others(21): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60967949 | T | TTTGTTG | intron_variant | MODIFIER | HG00639.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0010 | a0002c0003t0001a0002c0006t0002a0003c0010t0002 | a0002c0003t0001g0015a0002c0003t0001g0016a0002c0003t0001g0017others(3): Show | 6 | 74 | 0.0811 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60973585 | T | TTATATA | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03130.hp2 others(1): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001 | a0002c0005t0001g0018a0002c0005t0001g0019a0002c0005t0001g0020others(1): Show | 4 | 74 | 0.0541 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60976020 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(38): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0063others(38): Show | 41 | 74 | 0.5541 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60988186 | T | TAAATGA | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(12): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(43): Show | 46 | 74 | 0.6216 | 6 | c.122 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60991825 | G | GTTAAAT | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(12): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(43): Show | 46 | 74 | 0.6216 | 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 | 60992189 | T | TACACAC | intron_variant | MODIFIER | HG01256.hp2 HG02486.hp1 HG02559.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0002t0001g0060a0001c0004t0001g0034a0001c0004t0002g0050others(5): Show | 8 | 74 | 0.1081 | 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 | 60992189 | T | TCCACAC | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG03225.hp2 |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0001a0001c0002t0002a0004c0009t0001 | a0001c0002t0001g0056a0001c0002t0002g0053a0004c0009t0001g0055 | 3 | 74 | 0.0405 | 6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61042891 | C | CAAAAAA | intron_variant | MODIFIER | HG02083.hp2 HG02559.hp1 HG02897.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(2): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0004t0001g0045a0001c0004t0001g0046a0001c0004t0002g0044others(9): Show | 12 | 74 | 0.1622 | 6 | c.202 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTC | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02818.hp2 others(8): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0010 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0065others(8): Show | 11 | 74 | 0.1487 | 6 | c.202 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTATATA | intron_variant | MODIFIER | HG02083.hp1 HG03453.hp2 NA20129.hp2 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0034a0001c0004t0001g0043a0003c0001t0001g0009 | 3 | 74 | 0.0405 | 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 | A | AATATAT | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0002a0003c0001t0001 | a0002c0003t0002g0039a0003c0001t0001g0008 | 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 | 61095844 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0061a0001c0002t0001g0071a0001c0002t0002g0064others(3): Show | 6 | 74 | 0.0811 | 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 | 61109283 | T | TTGTGTG | intron_variant | MODIFIER | HG01952.hp1 HG02486.hp1 HG02818.hp1 others(7): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0004t0001g0034a0001c0004t0002g0035a0001c0004t0002g0072others(7): Show | 10 | 74 | 0.1351 | 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 | 61199721 | A | ATCATAG | intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040a0003c0001t0001g0011 | 2 | 74 | 0.0270 | 6 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61230142 | T | TACACAC | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02818.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0002t0002g0070a0001c0004t0002g0035a0002c0003t0001g0033others(3): Show | 6 | 74 | 0.0811 | 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 | A | AGTGTGT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02818.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0002t0001g0063a0001c0004t0002g0035a0001c0004t0002g0050others(5): Show | 8 | 74 | 0.1081 | 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 | 61285231 | T | TTGTGTG | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02886.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(4): Show | a0001c0002t0001g0071a0001c0002t0002g0053a0001c0004t0001g0045others(7): Show | 10 | 74 | 0.1351 | 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 | 61372901 | G | GATATAA | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0061a0001c0002t0001g0067a0002c0005t0001g0051 | 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 | |||||
BCAS3_chr17_60672851_61397831 | 61375218 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG02083.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0002t0001g0063a0001c0004t0001g0043a0002c0003t0001g0040others(6): Show | 9 | 74 | 0.1216 | 6 | c.259 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796452 | C | CATATAT | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0091others(2): Show | 5 | 270 | 0.0185 | 6 | c.90+ others(21): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50816791 | A | ATTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01943.hp2 HG01975.hp2 others(15): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0019a0002c0002t0001g0023a0002c0002t0001g0024others(15): Show | 18 | 270 | 0.0667 | 6 | c.91- others(21): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50855576 | T | TGGAAGG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0002a0001c0004t0002a0001c0004t0005others(1): Show | a0001c0001t0002g0074a0001c0001t0002g0165a0001c0001t0002g0211others(5): Show | 8 | 270 | 0.0296 | 6 | c.399 others(25): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50858925 | C | CTATTAT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01256.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0089others(46): Show | 49 | 270 | 0.1815 | 6 | c.399 others(25): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24833818 | C | CTTTTTT | intron_variant | MODIFIER | HG02630.hp2 HG02738.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0037a0001c0001t0130others(1): Show | a0001c0001t0003g0134a0001c0001t0003g0212a0001c0001t0037g0107others(2): Show | 5 | 322 | 0.0155 | 6 | c.904 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836908 | G | GAAAGAA | intron_variant | MODIFIER | HG00673.hp1 HG02976.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0035others(2): Show | a0001c0001t0001g0115a0001c0001t0010g0322a0001c0001t0035g0104others(2): Show | 5 | 322 | 0.0155 | 6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24852422 | G | GCTATCA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0291others(71): Show | 74 | 322 | 0.2298 | 6 | c.511 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887060 | C | CTAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0073a0001c0001t0087 | a0001c0001t0002g0259a0001c0001t0073g0156a0001c0001t0087g0023 | 3 | 322 | 0.0093 | 6 | c.280 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0210a0001c0001t0006g0232others(4): Show | 7 | 322 | 0.0217 | 6 | c.280 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTT | intron_variant | MODIFIER | HG01517.hp1 HG02523.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0017others(4): Show | a0001c0001t0009g0149a0001c0001t0014g0200a0001c0001t0017g0090others(5): Show | 8 | 322 | 0.0248 | 6 | c.78+ others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24928704 | T | TTTGTTG | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020a0001c0001t0030others(2): Show | a0001c0001t0016g0296a0001c0001t0020g0293a0001c0001t0020g0294others(3): Show | 6 | 322 | 0.0186 | 6 | c.6+2 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24936712 | A | ATCTCTC | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0047a0001c0001t0001g0067a0001c0001t0001g0068others(88): Show | 91 | 322 | 0.2826 | 6 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24943493 | G | GAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0218a0001c0001t0001g0248a0001c0001t0003g0025others(6): Show | 9 | 322 | 0.0280 | 6 | c.6+5 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24947167 | C | CCACACA | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0285a0001c0001t0002g0286a0001c0001t0003g0212others(4): Show | 7 | 322 | 0.0217 | 6 | c.6+1 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(9): Show | a0001c0001t0001g0037a0001c0001t0003g0048a0001c0001t0028g0021others(10): Show | 13 | 322 | 0.0404 | 6 | c.-26 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24953405 | G | GACACAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(258): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(258): Show | 261 | 322 | 0.8106 | 6 | c.-44 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 4305 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48793976 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0091a0001c0001t0001g0136others(2): Show | 5 | 408 | 0.0123 | 6 | c.*14 others(17): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1087 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48809066 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01069.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0060others(8): Show | 20 | 408 | 0.0490 | 6 | c.24+ others(21): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar |