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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO1_chr16_81233689_81296142 | 81235201 | A | AATAAATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0004others(3): Show | a0001c0001t0001a0001c0011t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0226 a0001c0011t0001g0081 a0002c0004t0001g0033 others(12): Show |
15 | 402 | 0.0373 | 10 | c.-37 others(21): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3487 | chr16 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0001a0002c0004t0001 | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0005t0001g0012 others(3): Show |
6 | 402 | 0.0149 | 10 | c.193 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81248405 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0027 a0001c0005t0001g0031 |
2 | 402 | 0.0050 | 10 | c.193 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81251872 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 402 | 0.0025 | 10 | c.193 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81251874 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0001a0001c0007t0001 | a0001c0005t0001g0027 a0001c0007t0001g0201 |
2 | 402 | 0.0050 | 10 | c.193 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270692 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(92): Show |
a0001a0003a0009others(4): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0178 a0001c0001t0001g0179 others(90): Show |
95 | 402 | 0.2363 | 10 | c.110 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270692 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0318 a0001c0002t0001g0015 a0001c0002t0001g0056 others(28): Show |
32 | 402 | 0.0796 | 10 | c.110 others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81292236 | T | TTTTTCTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG01943.hp2 HG02074.hp1 others(6): Show |
a0001a0003a0010 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0005t0001g0091 others(6): Show |
9 | 402 | 0.0224 | 10 | c.*16 others(21): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1095 | chr16 | TogoVar | |||||||
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01109.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0007t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0044 others(36): Show |
42 | 380 | 0.1105 | 10 | c.294 others(25): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112196915 | T | TCCTTCCC others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01257.hp2 HG02258.hp2 others(4): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0013 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show |
7 | 380 | 0.0184 | 10 | c.736 others(27): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112211352 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01496.hp2 HG02109.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0271 others(4): Show |
7 | 380 | 0.0184 | 10 | c.119 others(29): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
BCO2_chr11_112170512_112223946 | 112213131 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 380 | 0.0026 | 10 | c.119 others(27): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130000894 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02615.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0092 |
3 | 203 | 0.0148 | 10 | c.-44 others(27): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130003374 | C | CTTCTTCT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
a0001a0006 | a0001c0003a0001c0006a0006c0021 | a0001c0003t0002a0001c0006t0002a0006c0021t0002 | a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 others(8): Show |
11 | 203 | 0.0542 | 10 | c.-44 others(27): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043746 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03486.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0181 others(1): Show |
4 | 203 | 0.0197 | 10 | c.484 others(29): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043778 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 203 | 0.0049 | 10 | c.484 others(29): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 203 | 0.0049 | 10 | c.484 others(29): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046522 | T | TTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 257 | 0.0039 | 10 | c.*55 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046574 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 NA18990.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0114 a0001c0001t0001g0220 |
3 | 257 | 0.0117 | 10 | c.*55 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4676 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046594 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 257 | 0.0039 | 10 | c.*55 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4656 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046596 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0159 | 1 | 257 | 0.0039 | 10 | c.*55 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4654 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23202721 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01928.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0023others(21): Show | a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0023g0237 others(24): Show |
28 | 296 | 0.0946 | 10 | c.127 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23211655 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0109a0001c0005t0026a0001c0005t0107others(1): Show | a0001c0004t0109g0273 a0001c0005t0026g0278 a0001c0005t0107g0274 others(1): Show |
4 | 296 | 0.0135 | 10 | c.127 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23231506 | C | CATAAAAT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0059a0001c0001t0062a0001c0001t0063others(85): Show | a0001c0001t0059g0166 a0001c0001t0062g0142 a0001c0001t0063g0141 others(102): Show |
106 | 296 | 0.3581 | 10 | c.128 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23231508 | T | TAAAATAA others(3): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0096 | 1 | 296 | 0.0034 | 10 | c.128 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23297207 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0007 | a0007c0026 | a0007c0026t0190 | a0007c0026t0190g0080 | 1 | 296 | 0.0034 | 10 | c.301 others(29): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510597 | G | GGTGTGTG others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0210 | a0001c0001t0210g0168 | 1 | 319 | 0.0031 | 10 | c.*12 others(21): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1297 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(3): Show |
3_prime_UTR_variant | MODIFIER | HG03834.hp1 HG03834.hp2 HG03942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0088a0001c0001t0166a0001c0001t0185others(3): Show | a0001c0001t0088g0250 a0001c0001t0166g0120 a0001c0001t0185g0097 others(3): Show |
6 | 319 | 0.0188 | 10 | c.*12 others(21): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197542521 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03130.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0087a0001c0001t0092 | a0001c0001t0040g0009 a0001c0001t0087g0305 a0001c0001t0092g0306 |
3 | 319 | 0.0094 | 10 | c.83+ others(25): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3/7 | chr3 | TogoVar | |||||||
BDKRB2_chr14_96199839_96249164 | 96213495 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0051others(1): Show | a0001c0001t0001g0078 a0001c0001t0018g0017 a0001c0001t0018g0077 others(2): Show |
6 | 436 | 0.0138 | 10 | c.-40 others(27): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96227703 | A | ACACACAA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0063 | 1 | 436 | 0.0023 | 10 | c.-39 others(27): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27659629 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0271 | 1 | 360 | 0.0028 | 10 | c.-21 others(27): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697158 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02071.hp1 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0122 others(2): Show |
5 | 360 | 0.0139 | 10 | c.-22 others(27): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697160 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 360 | 0.0028 | 10 | c.-22 others(27): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697162 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0198 | 1 | 360 | 0.0028 | 10 | c.-22 others(27): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27698226 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00738.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 a0002c0002t0002g0231 a0002c0002t0002g0232 others(7): Show |
11 | 360 | 0.0306 | 10 | c.-22 others(27): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71506758 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0005 | 1 | 325 | 0.0031 | 10 | c.237 others(29): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71506786 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02976.hp1 HG04199.hp1 others(1): Show |
a0004a0009 | a0004c0004a0009c0008 | a0004c0004t0004a0004c0004t0010a0009c0008t0007 | a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0010g0322 others(1): Show |
4 | 325 | 0.0123 | 10 | c.237 others(29): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71506823 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG03669.hp2 HG03710.hp2 NA18982.hp2 others(1): Show |
a0001a0004a0035others(1): Show | a0001c0001a0004c0004a0035c0028others(1): Show | a0001c0001t0002a0004c0004t0004a0035c0028t0004others(1): Show | a0001c0001t0002g0085 a0004c0004t0004g0315 a0035c0028t0004g0317 others(1): Show |
4 | 325 | 0.0123 | 10 | c.237 others(29): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71516218 | G | GCAAGGAT others(3): Show |
frameshift_variant | HIGH | NA19091.hp1 | a0047 | a0047c0048 | a0047c0048t0002 | a0047c0048t0002g0066 | 1 | 325 | 0.0031 | 10 | c.480 others(19): Show |
p.Glu others(6): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 21/39 | 5035/11037 | 4808/7875 | 1603/2624 | chr5 | TogoVar | |||
BEAN1_chr16_66422295_66487833 | 66427218 | G | GCTCGCCT others(3): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 298 | 0.0034 | 10 | c.-29 others(19): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 76 | chr16 | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66461569 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0209 others(8): Show |
14 | 298 | 0.0470 | 10 | c.26- others(25): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474603 | A | AGGAAGGA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 a0001c0001t0003g0150 a0001c0001t0003g0177 others(1): Show |
4 | 298 | 0.0134 | 10 | c.290 others(27): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100583692 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0003others(1): Show | a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0224 others(8): Show |
11 | 326 | 0.0337 | 10 | c.42+ others(25): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18190766 | T | TCTCACAC others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18988.hp1 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0282 |
3 | 295 | 0.0102 | 10 | c.128 others(27): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18190766 | T | TCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0005 | a0003c0005t0017 | a0003c0005t0017g0208 | 1 | 295 | 0.0034 | 10 | c.128 others(27): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18193329 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02451.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0222 a0001c0001t0002g0042 a0001c0001t0002g0210 others(2): Show |
5 | 295 | 0.0170 | 10 | c.118 others(29): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18194972 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 a0002c0002t0001g0194 |
2 | 295 | 0.0068 | 10 | c.118 others(27): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01975.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0003g0308 others(8): Show |
11 | 368 | 0.0299 | 10 | c.-12 others(27): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762614 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0139 | 1 | 342 | 0.0029 | 10 | c.227 others(27): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar |