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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAHCC1_chr17_81390457_81471331 | 81418810 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(3): Show |
a0004a0026a0031 | a0004c0004a0004c0035a0026c0041others(1): Show | a0004c0004t0002a0004c0004t0014a0004c0035t0002others(2): Show | a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0014g0190 others(3): Show |
6 | 47 | 0.1277 | 14 | c.179 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425404 | G | GGTGATGT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(87): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0043a0001c0062others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0043t0001others(53): Show | a0001c0001t0001g0109 a0001c0001t0001g0274 a0001c0001t0001g0276 others(85): Show |
90 | 330 | 0.2727 | 14 | c.179 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81439943 | G | GGCCTGCA others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03486.hp1 |
a0002 | a0002c0010 | a0002c0010t0009a0002c0010t0016 | a0002c0010t0009g0014 a0002c0010t0016g0161 |
2 | 330 | 0.0061 | 14 | c.481 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98364986 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0122 | 1 | 18 | 0.0556 | 14 | c.52- others(29): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98392870 | G | GCAACCTC others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(68): Show |
a0001a0003a0004others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0015others(10): Show | a0001c0003t0003g0084 a0001c0003t0003g0094 a0001c0003t0003g0096 others(67): Show |
71 | 296 | 0.2399 | 14 | c.51+ others(29): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98393175 | A | ATACACAC others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0135 | 1 | 225 | 0.0044 | 14 | c.51+ others(29): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98393175 | A | ATACACAC others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(60): Show |
a0001a0003a0004others(1): Show | a0001c0003a0001c0004a0001c0007others(3): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0015others(8): Show | a0001c0003t0003g0084 a0001c0003t0003g0094 a0001c0003t0003g0096 others(59): Show |
63 | 287 | 0.2195 | 14 | c.51+ others(29): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02451.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0007g0366 others(6): Show |
9 | 265 | 0.0340 | 14 | c.130 others(31): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG02738.hp2 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0001c0001t0037a0002c0012t0002 | a0001c0001t0001g0364 a0001c0001t0037g0360 a0002c0012t0002g0359 |
3 | 259 | 0.0116 | 14 | c.130 others(31): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81119217 | C | CGGGAAGG others(7): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0329 | 1 | 310 | 0.0032 | 14 | c.*33 others(25): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 1784 | chr17 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101922009 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18952.hp1 NA19056.hp2 |
a0002a0007 | a0002c0003a0007c0008 | a0002c0003t0002a0007c0008t0002 | a0002c0003t0002g0184 a0007c0008t0002g0009 a0007c0008t0002g0274 |
3 | 58 | 0.0517 | 14 | c.120 others(33): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101947309 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 NA21309.hp2 |
a0001a0005 | a0001c0010a0005c0006 | a0001c0010t0002a0005c0006t0004 | a0001c0010t0002g0059 a0005c0006t0004g0122 |
2 | 178 | 0.0112 | 14 | c.120 others(35): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986897 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18949.hp1 NA18965.hp2 others(2): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0003a0005c0006t0003 | a0001c0002t0003g0001 a0001c0002t0003g0047 a0001c0002t0003g0115 others(1): Show |
5 | 179 | 0.0279 | 14 | c.120 others(35): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986899 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03130.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0112 a0001c0002t0004g0126 a0001c0002t0004g0131 |
3 | 68 | 0.0441 | 14 | c.120 others(35): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986899 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02630.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0003 | a0001c0001t0001g0034 a0001c0001t0001g0091 a0005c0006t0003g0278 |
3 | 68 | 0.0441 | 14 | c.120 others(35): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87971256 | G | GCCTTGCA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(45): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(6): Show | a0001c0004t0004a0001c0004t0012a0001c0008t0004others(8): Show | a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(45): Show |
48 | 350 | 0.1371 | 14 | c.-68 others(31): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87987712 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0128 a0001c0004t0004g0156 |
2 | 92 | 0.0217 | 14 | c.362 others(31): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751117 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0109 | 1 | 306 | 0.0033 | 14 | c.167 others(33): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214771943 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0014a0001c0004t0027 | a0001c0004t0008g0108 a0001c0004t0014g0038 a0001c0004t0027g0129 |
3 | 347 | 0.0086 | 14 | c.131 others(33): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01928.hp2 HG01975.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0072 others(3): Show |
11 | 25 | 0.4400 | 14 | c.-23 others(25): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX1_chr9_93946627_93960355 | 93950450 | A | ACCCCCCC others(7): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0006 a0001c0002t0002g0005 |
2 | 298 | 0.0067 | 14 | c.*17 others(25): Show |
BARX1 | ENSG00000131668.14 | transcript | ENST00000253968.11 | protein_coding | 1176 | chr9 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGAG others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0041 | a0001c0001t0024g0024 a0001c0001t0024g0025 a0001c0001t0024g0026 others(1): Show |
4 | 266 | 0.0150 | 14 | c.-74 others(23): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17275944 | C | CCTCTCTC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053 | a0001c0001t0052g0237 a0001c0001t0053g0245 |
2 | 84 | 0.0238 | 14 | c.*57 others(21): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 2/2 | 71 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BATF2_chr11_64982945_65001971 | 64983548 | A | ATATTTTT others(7): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0052 | 1 | 402 | 0.0025 | 14 | c.*55 others(25): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4396 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 72 | 0.0139 | 14 | c.*53 others(25): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 34 | 0.0294 | 14 | c.169 others(31): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34751700 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 171 | 0.0058 | 14 | c.*18 others(25): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1030 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759171 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01069.hp1 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 others(14): Show |
17 | 157 | 0.1083 | 14 | c.424 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759174 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 a0001c0002t0003g0178 |
2 | 378 | 0.0053 | 14 | c.424 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTGTTT others(7): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0187 | 1 | 268 | 0.0037 | 14 | c.424 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(35): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0003a0001c0004t0004a0001c0005t0006others(2): Show | a0001c0002t0003g0001 a0001c0002t0003g0142 a0001c0002t0003g0143 others(35): Show |
38 | 305 | 0.1246 | 14 | c.424 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34787363 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01069.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0005 | a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0127 others(16): Show |
19 | 183 | 0.1038 | 14 | c.151 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 12/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02280.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152 a0001c0002t0003g0156 a0001c0002t0003g0167 others(1): Show |
4 | 153 | 0.0261 | 14 | c.112 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832199 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0181 | 1 | 377 | 0.0027 | 14 | c.393 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832205 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0155 | 1 | 374 | 0.0027 | 14 | c.393 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832209 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 341 | 0.0029 | 14 | c.393 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 174 | 0.0057 | 14 | c.393 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866499 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0171 | 1 | 378 | 0.0026 | 14 | c.114 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp1 others(50): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 others(50): Show |
53 | 156 | 0.3397 | 14 | c.114 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0023 a0001c0007t0002g0063 |
2 | 128 | 0.0156 | 14 | c.571 others(31): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG01884.hp1 others(11): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0005a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0005g0022 a0001c0001t0005g0062 a0001c0001t0005g0087 others(10): Show |
14 | 19 | 0.7368 | 14 | c.*10 others(25): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG03041.hp1 NA19030.hp1 |
a0001a0008 | a0001c0001a0001c0002a0008c0014 | a0001c0001t0004a0001c0002t0024a0008c0014t0004 | a0001c0001t0004g0195 a0001c0002t0024g0188 a0008c0014t0004g0211 |
3 | 97 | 0.0309 | 14 | c.*96 others(23): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0182 | 1 | 57 | 0.0175 | 14 | c.400 others(33): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0002g0148 others(24): Show |
27 | 89 | 0.3034 | 14 | c.-2- others(31): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128161087 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG06807.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0002g0022 |
9 | 44 | 0.2045 | 14 | c.79+ others(27): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054205 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 72 | 0.0139 | 14 | c.-38 others(31): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 247 | 0.0040 | 14 | c.-38 others(31): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01069.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0008t0001 | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 others(6): Show |
12 | 258 | 0.0465 | 14 | c.-38 others(31): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 196 | 0.0051 | 14 | c.220 others(29): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0062 | 1 | 68 | 0.0147 | 14 | c.-11 others(29): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |