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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02165.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0064 a0001c0001t0001g0291 a0001c0001t0003g0025 others(22): Show |
25 | 89 | 0.2809 | 9 | c.675 others(26): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0091 others(42): Show |
45 | 207 | 0.2174 | 9 | c.280 others(26): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0165 a0001c0001t0001g0221 a0001c0001t0001g0248 others(49): Show |
52 | 74 | 0.7027 | 9 | c.78+ others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48793958 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18979.hp2 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0077 others(1): Show |
5 | 396 | 0.0126 | 9 | c.*14 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1105 | chr19 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0095 a0001c0001t0001g0192 others(2): Show |
9 | 112 | 0.0804 | 9 | c.-48 others(18): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80120312 | C | CATGTGTG others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 others(16): Show |
19 | 292 | 0.0651 | 9 | c.197 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467777 | G | GTGGTAGT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0047 others(24): Show |
27 | 252 | 0.1071 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467842 | G | GGTGGTGG others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0047 others(14): Show |
17 | 172 | 0.0988 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467912 | G | GTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 others(74): Show |
77 | 256 | 0.3008 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60477600 | T | TGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03490.hp1 HG03669.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0135 a0001c0001t0006g0235 a0001c0002t0001g0052 |
3 | 130 | 0.0231 | 9 | c.386 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAGA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01071.hp1 HG01515.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 others(12): Show |
15 | 74 | 0.2027 | 9 | c.-24 others(18): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99187778 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(264): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0163 others(262): Show |
267 | 348 | 0.7672 | 9 | c.641 others(28): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99271298 | G | GCGCCGCT others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0002g0064 a0001c0001t0005g0002 a0001c0001t0005g0293 others(39): Show |
43 | 344 | 0.1250 | 9 | c.-89 others(16): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | ||||||
BCL2A1_chr15_79955892_79976196 | 79959784 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG02622.hp2 others(7): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0001a0004c0004t0001a0005c0005t0001 | a0003c0003t0001g0016 a0004c0004t0001g0021 a0004c0004t0001g0045 others(4): Show |
10 | 349 | 0.0287 | 9 | c.*12 others(20): Show |
BCL2A1 | ENSG00000140379.9 | transcript | ENST00000267953.4 | protein_coding | 1107 | chr15 | TogoVar | |||||||
BCL2L11_chr2_111115914_111173444 | 111120979 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00741.hp2 HG02602.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0004g0124 |
3 | 47 | 0.0638 | 9 | c.-18 others(18): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 1/4 | 2724 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG03098.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0023others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0039 a0001c0001t0003g0146 others(9): Show |
18 | 81 | 0.2222 | 9 | c.*64 others(20): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0004g0164 others(7): Show |
10 | 90 | 0.1111 | 9 | c.-51 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17680215 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0002g0004 a0001c0001t0002g0100 a0001c0001t0002g0114 others(137): Show |
141 | 217 | 0.6498 | 9 | c.122 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0008g0227 a0001c0001t0008g0230 a0001c0001t0010g0235 others(8): Show |
11 | 98 | 0.1122 | 9 | c.229 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63324508 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01978.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0030others(2): Show | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0017 others(6): Show |
9 | 59 | 0.1525 | 9 | c.-56 others(20): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4740 | chr18 | TogoVar | |||||||
BCL6B_chr17_7018050_7034644 | 7024700 | C | CCAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG02965.hp1 HG03195.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 3 | 125 | 0.0240 | 9 | c.723 others(16): Show |
p.Ser others(13): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 4/9 | 794/3527 | 732/1440 | 244/479 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BCL7B_chr7_73531356_73562690 | 73561529 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(42): Show |
89 | 136 | 0.6544 | 9 | c.-39 others(20): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3840 | chr7 | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19951595 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0045 a0001c0001t0007g0009 a0001c0001t0007g0010 others(8): Show |
11 | 130 | 0.0846 | 9 | c.163 others(26): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 7/11 | chrX | TogoVar | |||||||
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0005a0010others(2): Show | a0001c0001a0005c0004a0010c0023others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(55): Show |
61 | 75 | 0.8133 | 9 | c.294 others(24): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130011571 | G | GACTTTCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp1 others(131): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(129): Show |
134 | 200 | 0.6700 | 9 | c.87- others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | chrX | TogoVar | |||||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01928.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0083 others(3): Show |
6 | 151 | 0.0397 | 9 | c.484 others(28): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23219904 | C | CCTGCACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(171): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(137): Show | a0001c0001t0005g0240 a0001c0001t0006g0223 a0001c0001t0015g0243 others(167): Show |
174 | 294 | 0.5918 | 9 | c.128 others(30): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510681 | T | TGTGTGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp1 HG01358.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0006 a0001c0001t0013g0180 |
3 | 271 | 0.0111 | 9 | c.*12 others(20): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1213 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 NA18977.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0023 a0001c0001t0002g0167 a0001c0001t0012g0007 |
3 | 188 | 0.0160 | 9 | c.*12 others(20): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96200430 | A | AGCTCCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00735.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(69): Show |
75 | 434 | 0.1728 | 9 | c.-45 others(20): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 4408 | chr14 | TogoVar | |||||||
BDKRB2_chr14_96199839_96249164 | 96209997 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0168 others(24): Show |
30 | 131 | 0.2290 | 9 | c.-40 others(26): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01255.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 others(10): Show |
13 | 17 | 0.7647 | 9 | c.-22 others(26): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71572301 | C | CCCCTTTG others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02976.hp1 HG03098.hp1 others(3): Show |
a0009 | a0009c0008 | a0009c0008t0002a0009c0008t0007 | a0009c0008t0002g0008 a0009c0008t0002g0095 a0009c0008t0007g0100 others(3): Show |
6 | 324 | 0.0185 | 9 | c.*74 others(20): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4482 | chr5 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100583692 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(70): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0133 a0001c0001t0001g0139 others(68): Show |
73 | 177 | 0.4124 | 9 | c.42+ others(24): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123696 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0017a0002c0002t0030 | a0001c0001t0016g0123 a0001c0001t0016g0133 a0002c0002t0017g0024 others(1): Show |
5 | 224 | 0.0223 | 9 | c.114 others(28): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61958127 | A | ATCCTCCT others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show |
395 | 408 | 0.9681 | 9 | c.715 others(21): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BFAR_chr16_14627951_14674236 | 14670131 | A | ACATCTAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0034 others(1): Show |
5 | 316 | 0.0158 | 9 | c.*23 others(20): Show |
BFAR | ENSG00000103429.11 | transcript | ENST00000261658.7 | protein_coding | 896 | chr16 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(38): Show |
43 | 84 | 0.5119 | 9 | c.892 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGLAP_chr1_156237184_156248317 | 156240585 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp2 others(98): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(4): Show |
101 | 286 | 0.3531 | 9 | c.-16 others(20): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 1598 | chr1 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02080.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0034others(4): Show | a0001c0001t0004g0139 a0001c0001t0004g0287 a0001c0001t0006g0159 others(6): Show |
9 | 58 | 0.1552 | 9 | c.-19 others(20): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32182278 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0004g0130 a0001c0001t0007g0249 a0001c0001t0008g0108 others(20): Show |
23 | 120 | 0.1917 | 9 | c.214 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32233322 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0194 a0001c0001t0003g0202 a0001c0001t0003g0237 others(15): Show |
18 | 148 | 0.1216 | 9 | c.426 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0283 a0001c0001t0003g0070 others(14): Show |
17 | 106 | 0.1604 | 9 | c.426 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32261995 | T | TGACAGGG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(14): Show | a0001c0001t0004g0019 a0001c0001t0004g0151 a0001c0001t0006g0034 others(25): Show |
28 | 288 | 0.0972 | 9 | c.427 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA19030.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030 | a0001c0001t0010g0003 a0001c0001t0010g0018 a0001c0001t0030g0030 |
3 | 109 | 0.0275 | 9 | c.*69 others(20): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02004.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0001g0191 a0001c0001t0008g0126 a0001c0001t0011g0264 others(4): Show |
7 | 113 | 0.0619 | 9 | c.*69 others(20): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD2_chr9_92706363_92769833 | 92764801 | A | AGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 others(7): Show |
10 | 246 | 0.0407 | 9 | c.-66 others(16): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/7 | 58 | chr9 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 119989462 | G | GGCAGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00738.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(70): Show |
74 | 94 | 0.7872 | 9 | c.-39 others(18): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/10 | 389 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 119989474 | A | AGCAGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02027.hp1 HG02135.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 a0001c0001t0006g0136 a0001c0001t0006g0146 others(5): Show |
9 | 291 | 0.0309 | 9 | c.-39 others(18): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/10 | 389 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120045917 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02523.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0018 | a0001c0001t0002g0197 a0001c0001t0005g0141 a0001c0001t0005g0170 others(12): Show |
15 | 150 | 0.1000 | 9 | c.646 others(28): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |