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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01106.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0187 a0001c0001t0003g0228 a0001c0001t0004g0073 others(19): Show |
22 | 118 | 0.1864 | 15 | c.312 others(32): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90065270 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0170 | 1 | 8 | 0.1250 | 15 | c.-13 others(34): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0030 | 1 | 53 | 0.0189 | 15 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0182 | 1 | 53 | 0.0189 | 15 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64271060 | G | GACCACAC others(8): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 374 | 0.0027 | 15 | c.378 others(30): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0117 a0001c0001t0003g0243 a0001c0001t0005g0236 others(1): Show |
4 | 221 | 0.0181 | 15 | c.181 others(32): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TTTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02630.hp2 HG03704.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0005c0006t0004 | a0001c0001t0004g0128 a0001c0001t0004g0247 a0001c0001t0004g0250 others(3): Show |
6 | 223 | 0.0269 | 15 | c.181 others(32): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38180522 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 154 | 0.0065 | 15 | c.270 others(32): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38189813 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0008g0279 others(7): Show |
10 | 208 | 0.0481 | 15 | c.271 others(32): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81407867 | A | ACAACTGG others(8): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 330 | 0.0030 | 15 | c.178 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425209 | T | TGGGTGAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0003others(50): Show | a0001c0001a0001c0016a0001c0051others(89): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(117): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0030 others(262): Show |
268 | 280 | 0.9571 | 15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0087 | 1 | 158 | 0.0063 | 15 | c.128 others(32): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0179 a0001c0001t0004g0193 a0001c0002t0002g0194 |
3 | 160 | 0.0188 | 15 | c.128 others(32): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98392886 | A | AACCTCCG others(8): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0136 | 1 | 296 | 0.0034 | 15 | c.51+ others(30): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98405330 | T | TTGCTTGC others(8): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0010 | 1 | 296 | 0.0034 | 15 | c.-44 others(26): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4241 | chr7 | TogoVar | |||||||
BAIAP2L2_chr22_38079900_38115684 | 38090118 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 8 | 0.1250 | 15 | c.613 others(30): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0371 | 1 | 257 | 0.0039 | 15 | c.130 others(32): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81057977 | C | CCCCCCCC others(8): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0236 | 1 | 374 | 0.0027 | 15 | c.217 others(28): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101819989 | A | ATTTACTA others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03225.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0243 a0001c0002t0003g0214 a0001c0002t0003g0245 |
3 | 282 | 0.0106 | 15 | c.71- others(30): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101828383 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0242 | 1 | 87 | 0.0115 | 15 | c.71- others(30): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | chr4 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87948974 | C | CAAACAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0085 | 1 | 83 | 0.0120 | 15 | c.-26 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2459 | chr16 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214771943 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 NA20129.hp2 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0008 a0001c0004t0027g0130 |
3 | 347 | 0.0086 | 15 | c.131 others(34): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0002g0005 others(6): Show |
10 | 24 | 0.4167 | 15 | c.-23 others(26): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX1_chr9_93946627_93960355 | 93950450 | A | ACCCCCCC others(8): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG03471.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0006 a0001c0002t0002g0002 a0001c0002t0002g0005 |
4 | 300 | 0.0133 | 15 | c.*17 others(26): Show |
BARX1 | ENSG00000131668.14 | transcript | ENST00000253968.11 | protein_coding | 1176 | chr9 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17212996 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0014 | 1 | 104 | 0.0096 | 15 | c.-48 others(26): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 4634 | chr5 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983560 | A | ATATTTTA others(8): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0017 |
2 | 295 | 0.0068 | 15 | c.*55 others(26): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4384 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 NA19055.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0037 |
3 | 74 | 0.0405 | 15 | c.*53 others(26): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687967 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0124 | 1 | 158 | 0.0063 | 15 | c.196 others(30): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75536722 | T | TTAAAATA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(211): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(170): Show |
214 | 253 | 0.8459 | 15 | c.169 others(32): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 a0001c0002t0001g0110 |
2 | 35 | 0.0571 | 15 | c.169 others(32): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48953836 | A | AAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01169.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show |
18 | 54 | 0.3333 | 15 | c.-10 others(26): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1038 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34751700 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 171 | 0.0058 | 15 | c.*18 others(26): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1030 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759183 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0172 | 1 | 378 | 0.0026 | 15 | c.424 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0140 a0001c0002t0003g0145 a0001c0002t0003g0147 others(7): Show |
10 | 277 | 0.0361 | 15 | c.424 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0174 | 1 | 104 | 0.0096 | 15 | c.114 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73436547 | G | GGCCCCCA others(8): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 198 | 0.0051 | 15 | c.*51 others(26): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 3858 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02486.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0034 others(7): Show |
10 | 136 | 0.0735 | 15 | c.571 others(32): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73524700 | C | CAACACAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 198 | 0.0051 | 15 | c.-27 others(26): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 2408 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01123.hp1 HG01358.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0002c0002others(3): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0020t0001g0046 others(8): Show |
11 | 73 | 0.1507 | 15 | c.-2- others(32): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159603197 | C | CTTTTAAA others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 214 | 0.0047 | 15 | c.-46 others(34): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128161087 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0044 |
7 | 42 | 0.1667 | 15 | c.79+ others(28): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0351 | 1 | 107 | 0.0093 | 15 | c.495 others(32): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0013a0001c0004t0001 | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0115 others(4): Show |
8 | 203 | 0.0394 | 15 | c.220 others(30): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03098.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0159 a0001c0001t0001g0196 |
3 | 271 | 0.0111 | 15 | c.*44 others(26): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 269 | 0.0037 | 15 | c.*44 others(26): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480354 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA18940.hp2 NA18941.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0084 others(2): Show |
11 | 375 | 0.0293 | 15 | c.*44 others(26): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4030 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480355 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0087 others(1): Show |
4 | 365 | 0.0110 | 15 | c.*44 others(26): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4029 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 others(8): Show |
11 | 24 | 0.4583 | 15 | c.24+ others(28): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 |
2 | 19 | 0.1053 | 15 | c.24+ others(30): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33218184 | A | AAAATTAC others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 266 | 0.0038 | 15 | c.443 others(34): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar |