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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP1_chr9_119161629_119374435 | 119180479 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0198 others(3): Show |
6 | 116 | 0.0517 | -10 | c.114 others(31): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119204457 | AATAAATT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG00741.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0130 others(25): Show |
28 | 234 | 0.1197 | -10 | c.114 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119219646 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0043 a0001c0001t0001g0193 a0001c0002t0001g0103 others(13): Show |
16 | 41 | 0.3902 | -10 | c.686 others(27): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119327676 | ATTAGCAA others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0081 | 1 | 234 | 0.0043 | -10 | c.-50 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119353061 | GCTCCAAT others(3): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 234 | 0.0043 | -10 | c.-51 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119366503 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0042 others(100): Show |
103 | 108 | 0.9537 | -10 | c.-51 others(27): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119373722 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01517.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0165 others(1): Show |
4 | 13 | 0.3077 | -10 | c.-47 others(21): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 4288 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190114526 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 131 | 0.0076 | -10 | c.118 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0069 others(2): Show |
5 | 9 | 0.5556 | -10 | c.961 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190229645 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 58 | 0.0172 | -10 | c.725 others(27): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190312036 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0136 a0001c0001t0002g0206 a0001c0001t0002g0208 others(3): Show |
6 | 45 | 0.1333 | -10 | c.237 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190327326 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(54): Show |
57 | 121 | 0.4711 | -10 | c.237 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190373898 | CTGTCTAT others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02970.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show |
4 | 238 | 0.0168 | -10 | c.236 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190405483 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0052 a0001c0001t0001g0165 a0001c0001t0002g0216 others(4): Show |
7 | 238 | 0.0294 | -10 | c.236 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190412451 | GTTTTGTT others(3): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 237 | 0.0042 | -10 | c.236 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151 a0001c0001t0002g0219 |
2 | 20 | 0.1000 | -10 | c.236 others(27): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01978.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0024 a0001c0001t0018g0119 |
2 | 23 | 0.0870 | -10 | c.249 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61709362 | GGGTGAAG others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00642.hp2 others(74): Show |
a0001a0005a0007others(3): Show | a0001c0001a0005c0008a0007c0014others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(14): Show | a0001c0001t0002g0004 a0001c0001t0002g0046 a0001c0001t0002g0051 others(74): Show |
77 | 264 | 0.2917 | -10 | c.249 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61727782 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0251 a0001c0001t0006g0259 |
2 | 264 | 0.0076 | -10 | c.238 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 16/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765423 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 77 | 0.0130 | -10 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01433.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0003others(4): Show | a0001c0001t0002g0096 a0001c0001t0006g0153 a0002c0002t0003g0184 others(7): Show |
10 | 73 | 0.1370 | -10 | c.209 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772200 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0005a0002c0003t0013others(1): Show | a0001c0001t0002g0061 a0002c0003t0005g0042 a0002c0003t0005g0076 others(5): Show |
8 | 264 | 0.0303 | -10 | c.209 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61786974 | TTATAAAT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(198): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0002g0004 others(197): Show |
201 | 264 | 0.7614 | -10 | c.147 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804410 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0020 | 1 | 205 | 0.0049 | -10 | c.919 others(27): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804954 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02602.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0005t0031others(1): Show | a0001c0001t0002g0053 a0001c0001t0008g0192 a0001c0005t0031g0145 others(1): Show |
4 | 27 | 0.1481 | -10 | c.919 others(27): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61823757 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG01934.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0013 | a0001c0001t0001a0001c0001t0025a0001c0001t0035others(2): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0072 others(6): Show |
9 | 115 | 0.0783 | -10 | c.628 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61863850 | TATCTTTA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0137 | 1 | 264 | 0.0038 | -10 | c.-60 others(19): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 323 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10131702 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 61 | 0.0164 | -10 | c.*54 others(21): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4513 | chr3 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13899590 | GAACTGAG others(3): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02004.hp1 NA18950.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0097 others(1): Show |
4 | 322 | 0.0124 | -10 | c.32- others(25): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01993.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0002g0055 others(2): Show |
5 | 29 | 0.1724 | -10 | c.*27 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1_chr11_66332339_66350104 | 66348690 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 151 | 0.0132 | -10 | c.-37 others(21): Show |
BRMS1 | ENSG00000174744.14 | transcript | ENST00000359957.8 | protein_coding | 3587 | chr11 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55307747 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01346.hp2 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0003a0002c0003t0010 | a0002c0003t0002g0008 a0002c0003t0002g0017 a0002c0003t0002g0122 others(6): Show |
11 | 71 | 0.1549 | -10 | c.209 others(27): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1460460 | CCTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0287 | 1 | 153 | 0.0065 | -10 | c.198 others(25): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 19/19 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39215994 | TCTCAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0076 | 1 | 336 | 0.0030 | -10 | c.366 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217026 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02145.hp2 HG02165.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0062others(1): Show | a0001c0001t0002g0063 a0001c0001t0004g0276 a0001c0001t0062g0278 others(1): Show |
4 | 336 | 0.0119 | -10 | c.365 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02074.hp1 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0003a0003c0004t0005a0003c0005t0007others(1): Show | a0001c0001t0003g0309 a0003c0004t0005g0129 a0003c0005t0007g0101 others(3): Show |
6 | 32 | 0.1875 | -10 | c.248 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02004.hp2 HG02083.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0023 | a0002c0002t0001g0218 a0002c0002t0001g0223 a0002c0002t0001g0231 others(1): Show |
4 | 15 | 0.2667 | -10 | c.235 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02622.hp1 HG02738.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0004a0004c0003t0006 | a0001c0001t0004g0253 a0001c0001t0004g0259 a0001c0001t0004g0286 others(3): Show |
6 | 150 | 0.0400 | -10 | c.234 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249915 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02293.hp1 HG03669.hp2 others(1): Show |
a0004 | a0004c0003a0004c0006 | a0004c0003t0006a0004c0003t0057a0004c0006t0006 | a0004c0003t0006g0142 a0004c0003t0006g0153 a0004c0003t0057g0151 others(1): Show |
4 | 203 | 0.0197 | -10 | c.234 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39284501 | TACTGTTT others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03130.hp1 |
a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0076 a0003c0004t0019g0077 |
2 | 335 | 0.0060 | -10 | c.832 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39292116 | GGGGGGTG others(3): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0319 | 1 | 336 | 0.0030 | -10 | c.831 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39303519 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 75 | 0.0133 | -10 | c.199 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39304298 | CAATTATG others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0032 | a0003c0004t0032g0100 | 1 | 336 | 0.0030 | -10 | c.199 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80696519 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0011g0074 |
3 | 27 | 0.1111 | -10 | c.306 others(27): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 26/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80740730 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0141 | 1 | 260 | 0.0038 | -10 | c.813 others(27): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 8/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809754 | GGAAAAAG others(3): Show |
G | 5_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 147 | 0.0068 | -10 | c.-29 others(19): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 284 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | AAGAGAGA others(3): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01261.hp1 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0087 | a0001c0001t0004g0092 a0001c0001t0087g0197 |
2 | 50 | 0.0400 | -10 | c.-29 others(19): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62686383 | GAATCATA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 328 | 0.0030 | -10 | c.*39 others(21): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3891 | chr11 | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62694195 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01496.hp2 others(18): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0010 a0002c0003t0002g0021 a0002c0003t0002g0029 others(15): Show |
21 | 35 | 0.6000 | -10 | c.630 others(25): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 4/10 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 585754 | GCTGGGCT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 304 | 0.0033 | -10 | c.*30 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2262 | chr19 | TogoVar |