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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS4_chr15_72681207_72743473 | 72702802 | CTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG01891.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0358a0001c0001t0001g0360a0001c0001t0001g0361others(39): Show | 43 | 398 | 0.1080 | -5 | c.77- others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725599 | AAAAAC | A | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 HG03516.hp2 others(2): Show |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0003a0004c0006t0001 | a0003c0005t0003g0350a0003c0005t0003g0351a0003c0005t0003g0353others(2): Show | 5 | 398 | 0.0126 | -5 | c.587 others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169480670 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00735.hp2 others(35): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0003g0002a0001c0001t0003g0037a0001c0001t0003g0038others(23): Show | 38 | 398 | 0.0955 | -5 | c.59+ others(20): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG02135.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(2): Show | a0001c0001t0001g0140a0001c0001t0002g0010a0001c0001t0002g0035others(10): Show | 19 | 398 | 0.0477 | -5 | c.386 others(22): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121841903 | TAATAC | T | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271a0001c0001t0007g0272a0001c0001t0007g0273 | 3 | 374 | 0.0080 | -5 | c.130 others(24): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 12/18 | chr4 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121874159 | AAGAAG | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0025a0001c0001t0003g0030others(13): Show | 22 | 374 | 0.0588 | -5 | c.-38 others(16): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 3686 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33134215 | ATTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 NA18956.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0191a0001c0001t0002g0190a0001c0001t0013g0041others(2): Show | 5 | 268 | 0.0187 | -5 | c.-12 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33139266 | AAAAAC | A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0019 | a0001c0001t0013g0041a0001c0001t0013g0042a0002c0002t0019g0043 | 3 | 268 | 0.0112 | -5 | c.-11 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33182086 | CAAACA | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(33): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0020others(33): Show | 36 | 268 | 0.1343 | -5 | c.442 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33247938 | CTTATA | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(27): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0027a0001c0001t0004g0014others(27): Show | 30 | 268 | 0.1119 | -5 | c.443 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33256482 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0012 | a0001c0001t0008g0209a0001c0001t0008g0210a0001c0001t0008g0232others(6): Show | 9 | 268 | 0.0336 | -5 | c.443 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33276113 | ATAATT | A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(2): Show | 5 | 268 | 0.0187 | -5 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565839 | ACTGCT | A | intron_variant | MODIFIER | HG02602.hp2 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0126others(3): Show | 6 | 268 | 0.0224 | -5 | c.252 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107530384 | CCAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02615.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0016a0003c0003t0032a0003c0003t0033others(1): Show | a0001c0001t0016g0210a0001c0001t0016g0211a0003c0003t0032g0016others(2): Show | 5 | 222 | 0.0225 | -5 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107583973 | TTATTA | T | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0032a0003c0003t0033a0005c0006t0048 | a0003c0003t0032g0016a0003c0003t0033g0005a0005c0006t0048g0004 | 3 | 222 | 0.0135 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107584106 | ATATAT | A | intron_variant | MODIFIER | HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0217a0001c0001t0004g0218a0001c0001t0021g0101others(1): Show | 4 | 222 | 0.0180 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107584672 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0104a0001c0001t0001g0165a0001c0001t0002g0138others(24): Show | 27 | 222 | 0.1216 | -5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107602947 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0072a0001c0001t0001g0140a0001c0001t0002g0065others(40): Show | 43 | 222 | 0.1937 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01891.hp1 HG02280.hp2 others(7): Show |
a0001a0003a0008 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(7): Show | a0001c0001t0001g0114a0001c0001t0004g0071a0001c0001t0020g0023others(7): Show | 10 | 222 | 0.0451 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107625946 | CATATA | C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0210a0001c0001t0016g0211 | 2 | 222 | 0.0090 | -5 | c.-83 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107721359 | TTTTTG | T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0052others(2): Show | a0001c0001t0002g0214a0001c0001t0002g0216a0001c0001t0006g0046others(5): Show | 8 | 222 | 0.0360 | -5 | c.405 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107759387 | ATTCAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0064a0004c0005t0002g0161 | 2 | 222 | 0.0090 | -5 | c.906 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156640414 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01516.hp2 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0273a0001c0001t0002g0034a0001c0001t0002g0192others(3): Show | 6 | 420 | 0.0143 | -5 | c.-18 others(16): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1702 | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156662397 | CGAAAG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0289a0001c0001t0002g0004a0001c0001t0002g0017others(72): Show | 102 | 420 | 0.2429 | -5 | c.*32 others(16): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2870 | chr1 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107596572 | TAACTA | T | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | 398 | 0.0075 | -5 | c.480 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599305 | AATTTT | A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0327a0001c0001t0007g0328a0001c0001t0007g0329others(4): Show | 7 | 398 | 0.0176 | -5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107607511 | TATATC | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0327a0001c0001t0007g0328a0001c0001t0007g0329others(4): Show | 7 | 398 | 0.0176 | -5 | c.590 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP31_chrX_153695492_153729387 | 153712410 | ATAAAT | A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 267 | 0.0038 | -5 | c.341 others(22): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4/7 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153712431 | TAAATA | T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 267 | 0.0038 | -5 | c.341 others(22): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4/7 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153716578 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 267 | 0.0038 | -5 | c.194 others(20): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 3/7 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153720910 | AAGAAG | A | frameshift_variant | HIGH | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 267 | 0.0038 | -5 | c.150 others(12): Show |
p.Phe others(4): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 3/8 | 252/1284 | 150/741 | 50/246 | chrX | TogoVar | ||
BCAP31_chrX_153695492_153729387 | 153724491 | GCTTCC | G | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 267 | 0.0038 | -5 | c.-20 others(14): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 105 | chrX | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75232159 | AATTTT | A | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0110a0001c0003t0001g0271a0001c0003t0001g0272others(2): Show | 5 | 392 | 0.0128 | -5 | c.210 others(24): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75253777 | TGGCCG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show |
a0001a0003a0009others(7): Show | a0001c0001a0001c0003a0001c0033others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0150a0001c0001t0001g0177a0001c0001t0001g0208others(92): Show | 131 | 392 | 0.3342 | -5 | c.-23 others(16): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2154 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93556785 | TTTAAA | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0040a0003c0004t0001g0088a0003c0004t0001g0089others(2): Show | 5 | 202 | 0.0248 | -5 | c.*54 others(16): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 4955 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93568199 | TAAATA | T | intron_variant | MODIFIER | HG01891.hp1 HG01928.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009a0001c0019 | a0001c0001t0001a0001c0009t0001a0001c0019t0001 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(12): Show | 15 | 202 | 0.0743 | -5 | c.197 others(22): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAA | C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03516.hp2 others(2): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0004a0012c0020others(1): Show | a0001c0001t0001a0003c0004t0001a0012c0020t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0073a0003c0004t0001g0088others(2): Show | 5 | 202 | 0.0248 | -5 | c.-11 others(20): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53946717 | TGTATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0030others(14): Show | a0001c0001t0009g0188a0001c0001t0009g0200a0001c0001t0009g0230others(27): Show | 30 | 364 | 0.0824 | -5 | c.181 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53952503 | GTTAAA | G | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG01192.hp2 others(4): Show |
a0002a0031 | a0002c0002a0031c0045 | a0002c0002t0002a0002c0002t0037a0002c0002t0042others(3): Show | a0002c0002t0002g0107a0002c0002t0037g0004a0002c0002t0042g0053others(3): Show | 7 | 364 | 0.0192 | -5 | c.181 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53960492 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02723.hp2 others(8): Show |
a0003a0007a0010others(2): Show | a0003c0003a0007c0008a0010c0011others(2): Show | a0003c0003t0024a0007c0008t0010a0007c0008t0020others(5): Show | a0003c0003t0024g0237a0007c0008t0010g0185a0007c0008t0010g0205others(8): Show | 11 | 364 | 0.0302 | -5 | c.148 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53996461 | TAAAAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01978.hp1 others(15): Show |
a0007a0012a0014others(2): Show | a0007c0008a0012c0016a0012c0031others(3): Show | a0007c0008t0008a0007c0008t0009a0007c0008t0010others(9): Show | a0007c0008t0008g0179a0007c0008t0008g0181a0007c0008t0009g0246others(15): Show | 18 | 364 | 0.0495 | -5 | c.724 others(20): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54008700 | TCATAC | T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(2): Show |
a0001a0003a0007others(1): Show | a0001c0017a0003c0003a0007c0008others(1): Show | a0001c0017t0012a0003c0003t0024a0007c0008t0020others(1): Show | a0001c0017t0012g0207a0003c0003t0024g0237a0007c0008t0020g0183others(2): Show | 5 | 364 | 0.0137 | -5 | c.724 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54013266 | ACAACT | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001a0007a0017 | a0001c0017a0007c0008a0017c0024 | a0001c0017t0012a0007c0008t0020a0017c0024t0010 | a0001c0017t0012g0207a0007c0008t0020g0183a0017c0024t0010g0236others(1): Show | 4 | 364 | 0.0110 | -5 | c.723 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54021903 | TTAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(6): Show | a0001c0001t0001g0245a0001c0001t0002g0253a0001c0001t0002g0254others(10): Show | 14 | 364 | 0.0385 | -5 | c.723 others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114563962 | TTACTA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(93): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0008others(39): Show | 96 | 414 | 0.2319 | -5 | c.*41 others(16): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3594 | chr1 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60673210 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03195.hp1 others(3): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0005t0001 | a0002c0003t0001g0037a0002c0003t0001g0038a0002c0003t0001g0041others(3): Show | 6 | 74 | 0.0811 | -5 | c.-47 others(16): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4640 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60706470 | CTTTAT | C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(28): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(28): Show | 31 | 74 | 0.4189 | -5 | c.215 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60782812 | TCTTGA | T | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0002 | a0003c0001t0001g0028a0003c0001t0002g0022 | 2 | 74 | 0.0270 | -5 | c.404 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60792966 | TATCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01952.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(4): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(8): Show | 11 | 74 | 0.1487 | -5 | c.404 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60831856 | TGTAAA | T | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0002a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0004t0002g0035a0001c0004t0002g0050a0001c0004t0002g0072others(15): Show | 18 | 74 | 0.2432 | -5 | c.476 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |