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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BARD1_chr2_214720646_214814683 | 214751117 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0111 | 1 | 306 | 0.0033 | 12 | c.167 others(31): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214751151 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0037 | 1 | 39 | 0.0256 | 12 | c.167 others(31): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BARHL1_chr9_132577606_132595252 | 132582673 | C | CCAAGGTC others(5): Show |
5_prime_UTR_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 470 | 0.0021 | 12 | c.-11 others(21): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1/3 | 118 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BARHL1_chr9_132577606_132595252 | 132584121 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18960.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083 a0001c0001t0002g0034 a0001c0001t0002g0047 |
4 | 196 | 0.0204 | 12 | c.466 others(27): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BARHL1_chr9_132577606_132595252 | 132584121 | A | AGAATGAA others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0110 | 1 | 193 | 0.0052 | 12 | c.466 others(27): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90709236 | G | GAAGAAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01952.hp2 others(19): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0007 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(13): Show |
22 | 103 | 0.2136 | 12 | c.*30 others(23): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2302 | chr1 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90709261 | A | AAGAAAGA others(5): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 443 | 0.0023 | 12 | c.*30 others(23): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2277 | chr1 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(2): Show |
6 | 20 | 0.3000 | 12 | c.-23 others(23): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX1_chr9_93946627_93960355 | 93950450 | A | ACCCCCCC others(5): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0006 a0001c0002t0002g0002 |
9 | 305 | 0.0295 | 12 | c.*17 others(23): Show |
BARX1 | ENSG00000131668.14 | transcript | ENST00000253968.11 | protein_coding | 1176 | chr9 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217053 | G | GGAGAGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0081 a0001c0001t0030g0125 |
2 | 363 | 0.0055 | 12 | c.-76 others(21): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 577 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01070.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 others(7): Show |
11 | 273 | 0.0403 | 12 | c.-74 others(21): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217097 | T | TGAGAGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019 | a0001c0001t0018g0194 a0001c0001t0019g0013 |
3 | 271 | 0.0111 | 12 | c.-72 others(21): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 533 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17240133 | G | GATAAATA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0044 | 1 | 150 | 0.0067 | 12 | c.-10 others(31): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64998973 | T | TTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 302 | 0.0033 | 12 | c.-20 others(23): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 2003 | chr11 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 65000934 | C | CTCTTTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02615.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0005c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(7): Show |
12 | 195 | 0.0615 | 12 | c.-40 others(23): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 3964 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 72 | 0.0139 | 12 | c.*53 others(23): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687967 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(39): Show |
89 | 246 | 0.3618 | 12 | c.196 others(28): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687996 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03491.hp2 HG03492.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0203 a0001c0003t0001g0204 a0002c0002t0001g0220 |
3 | 347 | 0.0086 | 12 | c.196 others(29): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687996 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18989.hp2 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0108 |
4 | 348 | 0.0115 | 12 | c.196 others(29): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02886.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0116 a0001c0002t0001g0114 a0001c0002t0001g0115 |
3 | 36 | 0.0833 | 12 | c.169 others(29): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75544068 | T | TGCCAGGC others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 374 | 0.0027 | 12 | c.169 others(29): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75550066 | T | TTTTCTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01106.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(29): Show |
33 | 171 | 0.1930 | 12 | c.*33 others(23): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3075 | chr14 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75550100 | T | TTCTTTCT others(5): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | 12 | c.*34 others(23): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3109 | chr14 | TogoVar | |||||||
BAX_chr19_48949875_48966798 | 48953836 | A | AAATAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(43): Show |
67 | 103 | 0.6505 | 12 | c.-10 others(23): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1038 | chr19 | TogoVar | |||||||
BAX_chr19_48949875_48966798 | 48954325 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0017 others(4): Show |
9 | 43 | 0.2093 | 12 | c.-60 others(21): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 549 | chr19 | TogoVar | |||||||
BAX_chr19_48949875_48966798 | 48959992 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01433.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0059 others(9): Show |
16 | 53 | 0.3019 | 12 | c.370 others(27): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34751700 | T | TAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01257.hp2 others(17): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0005 | a0001c0002t0002g0059 a0001c0002t0002g0070 a0001c0002t0002g0074 others(17): Show |
20 | 190 | 0.1053 | 12 | c.*18 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1030 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTTTTG others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0004a0001c0012t0004 | a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0033 others(5): Show |
8 | 275 | 0.0291 | 12 | c.424 others(29): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0018 | 1 | 268 | 0.0037 | 12 | c.424 others(29): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34787363 | A | AAAAAAAG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(98): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0105 a0001c0002t0002g0104 a0001c0002t0002g0120 others(98): Show |
101 | 265 | 0.3811 | 12 | c.151 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 12/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0003a0001c0003t0005a0002c0006t0002others(1): Show | a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0162 others(10): Show |
13 | 162 | 0.0802 | 12 | c.112 others(29): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34825447 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0006 | 1 | 101 | 0.0099 | 12 | c.536 others(27): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832205 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0153 | 1 | 374 | 0.0027 | 12 | c.393 others(29): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34839839 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03710.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0054 a0002c0006t0002g0055 |
2 | 158 | 0.0127 | 12 | c.393 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0003others(3): Show | a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0010g0158 others(18): Show |
21 | 124 | 0.1694 | 12 | c.114 others(29): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73454133 | T | TATAAATA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0006 | a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 others(1): Show |
4 | 132 | 0.0303 | 12 | c.343 others(31): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73484292 | A | AAGATAGA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0041 |
2 | 165 | 0.0121 | 12 | c.891 others(29): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 6/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0003g0187 others(4): Show |
7 | 133 | 0.0526 | 12 | c.571 others(29): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73526868 | A | AAAATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 146 | 0.0068 | 12 | c.-49 others(23): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4576 | chr7 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCACACAC others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(130): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(99): Show |
133 | 138 | 0.9638 | 12 | c.*10 others(23): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCACACGC others(5): Show |
3_prime_UTR_variant | MODIFIER | NA18960.hp1 NA18981.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085 a0001c0001t0013g0138 a0001c0001t0013g0171 |
3 | 8 | 0.3750 | 12 | c.*10 others(23): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCGCACAC others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0023 | 2 | 7 | 0.2857 | 12 | c.*10 others(23): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCGCGCAC others(5): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0079 | 1 | 6 | 0.1667 | 12 | c.*10 others(23): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 95 | 0.0105 | 12 | c.*96 others(21): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56620563 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp1 others(17): Show |
a0001a0010 | a0001c0003a0010c0015 | a0001c0003t0002a0001c0003t0007a0001c0003t0009others(4): Show | a0001c0003t0002g0025 a0001c0003t0002g0183 a0001c0003t0002g0197 others(13): Show |
20 | 199 | 0.1005 | 12 | c.-2- others(27): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325117 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 |
3 | 142 | 0.0211 | 12 | c.621 others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 57 | 0.0175 | 12 | c.400 others(31): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159423314 | T | TAAACAAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0104 a0001c0020t0001g0046 a0002c0002t0001g0048 others(4): Show |
7 | 146 | 0.0479 | 12 | c.246 others(31): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 13/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00741.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0002others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0105 others(10): Show |
13 | 75 | 0.1733 | 12 | c.-2- others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0181 | 1 | 48 | 0.0208 | 12 | c.-3+ others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar |