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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP2_chr1_177165958_177287422 | 177177294 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0018 | 1 | 245 | 0.0041 | -12 | c.-77 others(29): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177200293 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0015 | a0001c0001t0001g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 others(1): Show |
4 | 43 | 0.0930 | -12 | c.-77 others(31): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177212066 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0018 | a0001c0001t0001g0171 a0002c0002t0018g0179 |
2 | 70 | 0.0286 | -12 | c.-76 others(31): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177287183 | TCTTCCTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0183 a0001c0001t0003g0093 |
2 | 89 | 0.0225 | -12 | c.*56 others(23): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 4762 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190148596 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0207 others(1): Show |
4 | 99 | 0.0404 | -12 | c.118 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190169116 | ACTAGCAG others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 | 1 | 238 | 0.0042 | -12 | c.962 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0027 others(13): Show |
16 | 20 | 0.8000 | -12 | c.961 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190259612 | CAAAAAAT others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | 238 | 0.0084 | -12 | c.618 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190259615 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show |
5 | 29 | 0.1724 | -12 | c.618 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190339005 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02723.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0197 others(3): Show |
6 | 120 | 0.0500 | -12 | c.237 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 49 | 0.0204 | -12 | c.236 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190405481 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02155.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(12): Show |
15 | 238 | 0.0630 | -12 | c.236 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 19 | 0.0526 | -12 | c.236 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(22): Show |
25 | 46 | 0.5435 | -12 | c.249 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765379 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0259 | 1 | 253 | 0.0040 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765417 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02293.hp2 HG03490.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0172 a0001c0001t0004g0210 a0001c0001t0024g0065 |
3 | 257 | 0.0117 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765419 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 234 | 0.0043 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02080.hp2 HG03017.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0003a0002c0002t0007others(1): Show | a0001c0001t0008g0192 a0002c0002t0003g0204 a0002c0002t0003g0211 others(6): Show |
9 | 72 | 0.1250 | -12 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772198 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG02080.hp1 NA18943.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0017a0002c0003t0005a0002c0003t0019others(1): Show | a0001c0001t0017g0144 a0002c0003t0005g0037 a0002c0003t0005g0057 others(5): Show |
8 | 264 | 0.0303 | -12 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804410 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00673.hp2 others(49): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(48): Show |
52 | 256 | 0.2031 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804436 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0009 | a0001c0009t0022 | a0001c0009t0022g0154 | 1 | 264 | 0.0038 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804954 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01257.hp1 others(12): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 others(12): Show |
15 | 38 | 0.3947 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61823757 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01109.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0035 a0001c0001t0001g0074 a0001c0001t0002g0051 others(28): Show |
31 | 137 | 0.2263 | -12 | c.628 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61838546 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0151 a0001c0001t0008g0245 a0001c0001t0008g0246 |
3 | 118 | 0.0254 | -12 | c.627 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34923804 | GAGATTGC others(5): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 438 | 0.0023 | -12 | c.663 others(27): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 8/9 | chr5 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35823940 | CTTTATTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 52 | 0.0192 | -12 | c.-25 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 2397 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35825599 | AGAGGGCG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0010 |
6 | 334 | 0.0180 | -12 | c.-91 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 738 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show |
4 | 28 | 0.1429 | -12 | c.*27 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873837 | ATTACTTA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0137 |
3 | 372 | 0.0081 | -12 | c.*33 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1875 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35875710 | ATTAAGGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0063 others(12): Show |
16 | 372 | 0.0430 | -12 | c.*52 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 3748 | chr14 | TogoVar | |||||||
BRPF1_chr3_9726735_9753015 | 9746786 | GGCATAAA others(5): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 424 | 0.0024 | -12 | c.347 others(29): Show |
BRPF1 | ENSG00000156983.17 | transcript | ENST00000383829.7 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
BRPF3_chr6_36191744_36237790 | 36194055 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 others(1): Show |
4 | 286 | 0.0140 | -12 | c.-29 others(23): Show |
BRPF3 | ENSG00000096070.19 | transcript | ENST00000357641.10 | protein_coding | 2688 | chr6 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55307747 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0006a0001c0014t0001 | a0001c0001t0001g0016 a0001c0001t0001g0169 a0001c0001t0006g0207 others(1): Show |
4 | 64 | 0.0625 | -12 | c.209 others(29): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394579 | CATGGAGA others(5): Show |
C | intron_variant | MODIFIER | NA18952.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0061 |
2 | 358 | 0.0056 | -12 | c.91+ others(27): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1403409 | TGCTGGGG others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0001g0052 a0001c0001t0014g0042 a0001c0001t0043g0054 others(2): Show |
5 | 358 | 0.0140 | -12 | c.91+ others(29): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1443701 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01891.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0010a0002c0002t0016others(2): Show | a0002c0002t0008g0115 a0002c0002t0010g0244 a0002c0002t0016g0254 others(2): Show |
5 | 358 | 0.0140 | -12 | c.780 others(25): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217024 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18967.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020 a0001c0001t0004g0265 |
2 | 278 | 0.0072 | -12 | c.365 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01358.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0003a0002c0002t0001a0003c0004t0005others(7): Show | a0001c0001t0003g0299 a0002c0002t0001g0182 a0003c0004t0005g0096 others(18): Show |
21 | 47 | 0.4468 | -12 | c.248 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0004 | a0004c0003 | a0004c0003t0072 | a0004c0003t0072g0251 | 1 | 72 | 0.0139 | -12 | c.248 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 12 | 0.0833 | -12 | c.235 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 NA19066.hp2 |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0009a0003c0014t0028 | a0001c0001t0009g0006 a0003c0014t0028g0016 |
2 | 146 | 0.0137 | -12 | c.234 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249915 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01928.hp1 others(22): Show |
a0004a0010 | a0004c0003a0004c0006a0004c0019others(1): Show | a0004c0003t0006a0004c0003t0039a0004c0003t0052others(8): Show | a0004c0003t0006g0143 a0004c0003t0006g0147 a0004c0003t0006g0148 others(22): Show |
25 | 224 | 0.1116 | -12 | c.234 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39313589 | GCGCCGCC others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02818.hp1 HG03540.hp1 |
a0004 | a0004c0003 | a0004c0003t0025a0004c0003t0026 | a0004c0003t0025g0002 a0004c0003t0026g0001 |
2 | 110 | 0.0182 | -12 | c.-11 others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1/41 | 99 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80788085 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02615.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0070 | a0001c0001t0004g0097 a0001c0001t0017g0104 a0001c0001t0017g0118 others(3): Show |
6 | 76 | 0.0789 | -12 | c.430 others(29): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809759 | AAGAGAGA others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0061 | a0001c0001t0006g0112 a0001c0001t0061g0141 |
2 | 50 | 0.0400 | -12 | c.-30 others(21): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32360845 | CATAGATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02683.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0002g0111 |
2 | 60 | 0.0333 | -12 | c.*57 others(23): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3787 | chr1 | TogoVar | |||||||
BSG_chr19_567596_588493 | 572934 | TCCGGCCT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(47): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0023a0001c0003t0001others(8): Show | a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0023g0068 others(29): Show |
50 | 304 | 0.1645 | -12 | c.67+ others(25): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 583671 | GAGGCTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0001 | 1 | 304 | 0.0033 | -12 | c.*92 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 179 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 55001201 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01081.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0008g0012 others(32): Show |
53 | 193 | 0.2746 | -12 | c.177 others(29): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49606240 | TGTATATA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0020 | a0002c0020t0024 | a0002c0020t0024g0165 | 1 | 162 | 0.0062 | -12 | c.225 others(31): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar |