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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BARHL1_chr9_132577606_132595252 | 132581538 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00544.hp1 NA18960.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0002g0010 |
3 | 148 | 0.0203 | 6 | c.-12 others(17): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1067 | chr9 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90717524 | C | CAGGCGA | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0058 others(3): Show |
8 | 440 | 0.0182 | 6 | c.-33 others(15): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 223 | chr1 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18970.hp1 NA18970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0034 others(4): Show |
7 | 21 | 0.3333 | 6 | c.-23 others(17): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX2_chr11_129370848_129457279 | 129454425 | A | ACTTTGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(156): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(148): Show |
159 | 398 | 0.3995 | 6 | c.*30 others(17): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 2147 | chr11 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17212996 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0114 a0001c0001t0001g0187 others(20): Show |
24 | 127 | 0.1890 | 6 | c.-48 others(17): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 4634 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217065 | A | AGAGAGT | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03041.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0242 a0001c0001t0004g0023 a0001c0001t0010g0238 others(3): Show |
6 | 368 | 0.0163 | 6 | c.-75 others(15): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 565 | chr5 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01891.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0045 | a0001c0001t0003g0060 a0001c0001t0010g0053 a0001c0001t0010g0057 others(3): Show |
6 | 268 | 0.0224 | 6 | c.-74 others(15): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64987709 | T | TCACACA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0061 others(2): Show |
11 | 317 | 0.0347 | 6 | c.*14 others(17): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 235 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0078 others(1): Show |
6 | 77 | 0.0779 | 6 | c.*53 others(17): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212696423 | G | GGTGTGT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0075 others(3): Show |
8 | 267 | 0.0300 | 6 | c.195 others(21): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212699677 | T | TGCTGCG | conservative_inframe_insertion | MODERATE | HG02895.hp1 HG02897.hp1 HG03041.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0065 a0003c0004t0001g0202 |
3 | 460 | 0.0065 | 6 | c.80_ others(11): Show |
p.Pro others(11): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 1/3 | 163/836 | 85/384 | 29/127 | chr1 | TogoVar | |||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(77): Show |
105 | 138 | 0.7609 | 6 | c.169 others(23): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48953836 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00733.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(29): Show |
56 | 92 | 0.6087 | 6 | c.-10 others(17): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1038 | chr19 | TogoVar | |||||||
BAX_chr19_48949875_48966798 | 48954325 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0086 others(3): Show |
6 | 40 | 0.1500 | 6 | c.-60 others(15): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 549 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0001 a0001c0003t0005g0193 a0001c0003t0005g0369 others(7): Show |
10 | 101 | 0.0990 | 6 | c.183 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34786603 | G | GTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0005 | a0001c0002t0002g0063 a0001c0003t0005g0007 a0001c0003t0005g0013 others(5): Show |
8 | 157 | 0.0510 | 6 | c.151 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 12/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00642.hp2 others(75): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0105 others(75): Show |
78 | 227 | 0.3436 | 6 | c.112 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832191 | T | TACACAC | intron_variant | MODIFIER | HG02723.hp1 HG02897.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0333 |
3 | 228 | 0.0132 | 6 | c.393 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34839839 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0012others(1): Show | a0001c0003t0005a0001c0004t0004a0001c0012t0004others(1): Show | a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0007 others(45): Show |
48 | 204 | 0.2353 | 6 | c.393 others(25): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34872913 | T | TAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02135.hp1 HG03490.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 others(6): Show |
9 | 104 | 0.0865 | 6 | c.113 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34873589 | G | GCTGAGT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01106.hp2 others(18): Show |
a0001a0005 | a0001c0004a0005c0014 | a0001c0004t0004a0005c0014t0004 | a0001c0004t0004g0340 a0001c0004t0004g0341 a0001c0004t0004g0342 others(18): Show |
21 | 378 | 0.0556 | 6 | c.113 others(21): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0311 others(8): Show |
11 | 55 | 0.2000 | 6 | c.-21 others(17): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACAC | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01106.hp1 others(11): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0103 others(9): Show |
14 | 108 | 0.1296 | 6 | c.*97 others(15): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG02615.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0006a0006c0016 | a0001c0001t0001a0001c0001t0002a0006c0006t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0002g0148 a0006c0006t0001g0007 others(2): Show |
5 | 61 | 0.0820 | 6 | c.400 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159434151 | A | AATTATT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01192.hp1 others(8): Show |
a0003a0012 | a0003c0003a0003c0013a0012c0012 | a0003c0003t0001a0003c0003t0002a0003c0013t0006others(1): Show | a0003c0003t0001g0009 a0003c0003t0001g0014 a0003c0003t0001g0056 others(8): Show |
11 | 164 | 0.0671 | 6 | c.129 others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 8/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159542636 | C | CTAAAAA | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0162 a0001c0001t0005g0130 a0001c0001t0008g0131 others(1): Show |
4 | 214 | 0.0187 | 6 | c.-3+ others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159553392 | C | CAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG02717.hp2 HG03654.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0007a0006c0006others(1): Show | a0001c0001t0002a0002c0007t0002a0006c0006t0002others(1): Show | a0001c0001t0002g0134 a0001c0001t0002g0144 a0002c0007t0002g0135 others(2): Show |
5 | 71 | 0.0704 | 6 | c.-3+ others(21): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604932 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01168.hp2 others(25): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0101 others(25): Show |
28 | 143 | 0.1958 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604951 | T | TGTGCGC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(28): Show |
31 | 145 | 0.2138 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604951 | T | TGTGTGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0029others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0030 others(61): Show |
64 | 178 | 0.3596 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47217194 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02080.hp1 HG03471.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0087 a0001c0001t0001g0162 others(7): Show |
10 | 43 | 0.2326 | 6 | c.*46 others(17): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3629 | chr19 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47226327 | T | TCCCTGG | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 a0001c0001t0003g0168 |
4 | 410 | 0.0098 | 6 | c.465 others(21): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47231146 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0022 a0001c0001t0005g0023 others(29): Show |
53 | 406 | 0.1305 | 6 | c.-23 others(15): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2716 | chr19 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128155573 | G | GCCCCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(9): Show |
82 | 251 | 0.3267 | 6 | c.-48 others(17): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4691 | chr9 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128155578 | C | CCCCCCG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show |
63 | 355 | 0.1775 | 6 | c.-48 others(17): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4686 | chr9 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74028467 | T | TACACAC | intron_variant | MODIFIER | HG02486.hp2 HG03831.hp2 HG03942.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0005c0005t0016 | a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0170 others(1): Show |
4 | 167 | 0.0240 | 6 | c.286 others(21): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74042879 | G | GACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(37): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0004a0002c0002t0001a0003c0003t0001 | a0001c0004t0004g0002 a0001c0004t0004g0013 a0001c0004t0004g0014 others(35): Show |
40 | 139 | 0.2878 | 6 | c.576 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74070668 | T | TTGACGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(273): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(20): Show | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0022 others(254): Show |
276 | 384 | 0.7188 | 6 | c.*59 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4577 | chr14 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27038522 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(49): Show |
61 | 122 | 0.5000 | 6 | c.-28 others(17): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2292 | chr11 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27046439 | G | GACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 others(36): Show |
45 | 105 | 0.4286 | 6 | c.-39 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGC | intron_variant | MODIFIER | NA18949.hp2 NA18990.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 |
3 | 249 | 0.0120 | 6 | c.-38 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057064 | T | TAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(150): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 others(139): Show |
153 | 155 | 0.9871 | 6 | c.220 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27085555 | A | ATCTCTC | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01261.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0001g0070 others(10): Show |
17 | 106 | 0.1604 | 6 | c.335 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01069.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0026a0002c0002others(1): Show | a0001c0001t0001a0001c0026t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0026t0001g0066 others(4): Show |
16 | 83 | 0.1928 | 6 | c.-11 others(21): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56516993 | T | TTTATTA | intron_variant | MODIFIER | HG00544.hp1 HG02622.hp2 HG03098.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0001g0197 a0001c0001t0001g0198 others(7): Show |
10 | 393 | 0.0254 | 6 | c.118 others(23): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(108): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0172 a0001c0001t0001g0311 a0001c0001t0001g0312 others(107): Show |
111 | 128 | 0.8672 | 6 | c.24+ others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72689720 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(381): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(377): Show |
384 | 396 | 0.9697 | 6 | c.24+ others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01099.hp2 others(37): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0291 a0001c0001t0001g0292 others(37): Show |
40 | 58 | 0.6897 | 6 | c.77- others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72713314 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0314 a0001c0001t0001g0366 a0001c0001t0001g0367 others(72): Show |
77 | 250 | 0.3080 | 6 | c.220 others(23): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725038 | C | CTATATA | intron_variant | MODIFIER | HG01123.hp1 HG02080.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 a0001c0001t0002g0317 a0001c0001t0002g0325 |
3 | 260 | 0.0115 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |