regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRD1_chr22_49768283_49832873 | 49827360 | A | AGCCGCCG others(8): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18943.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214a0001c0002t0001g0215 | 2 | 258 | 0.0078 | 15 | c.-15 others(30): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 1/12 | chr22 | TogoVar | ||||||
BRD3OS_chr9_134020481_134036587 | 134025002 | C | CCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0001 | 1 | 334 | 0.0030 | 15 | c.-13 others(26): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 478 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134051878 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0219 | 1 | 334 | 0.0030 | 15 | c.352 others(30): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15243145 | G | GGCGGCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0011 | a0011c0027 | a0011c0027t0005 | a0011c0027t0005g0056 | 1 | 208 | 0.0048 | 15 | c.290 others(24): Show |
p.Leu others(13): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 14/20 | 3207/7231 | 2923/4089 | 975/1362 | chr19 | TogoVar | ||
BRDT_chr1_91944401_92019421 | 91945300 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 318 | 0.0031 | 15 | c.-44 others(26): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4100 | chr1 | TogoVar | ||||||
BRF2_chr8_37838268_37854861 | 37841672 | G | GAGGGGCC others(8): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | 15 | c.*28 others(26): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 1595 | chr8 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124990211 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0361 | 1 | 410 | 0.0024 | 15 | c.-35 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 3433 | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124991694 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0395 | 1 | 410 | 0.0024 | 15 | c.-20 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1950 | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125016825 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0003g0150a0002c0002t0001g0219a0002c0002t0003g0216others(3): Show | 6 | 410 | 0.0146 | 15 | c.316 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125019634 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 HG01952.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0040g0093a0002c0002t0003g0187a0002c0002t0003g0188others(4): Show | 7 | 410 | 0.0171 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125022518 | A | ATTATTTA others(8): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0312 | 1 | 410 | 0.0024 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0237 | 1 | 410 | 0.0024 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02970.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0012a0001c0001t0032others(4): Show | a0001c0001t0010g0401a0001c0001t0012g0153a0001c0001t0032g0067others(4): Show | 7 | 410 | 0.0171 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0032a0002c0002t0010 | a0001c0001t0010g0402a0001c0001t0032g0125a0002c0002t0010g0245 | 3 | 410 | 0.0073 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125023300 | C | CTTCCCTG others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0096a0001c0001t0002g0003a0001c0001t0002g0009others(207): Show | 211 | 410 | 0.5146 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3_chr7_98276686_98296545 | 98280243 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1442 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02451.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0019others(6): Show | 10 | 414 | 0.0242 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119237346 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0184others(48): Show | 51 | 236 | 0.2161 | 15 | c.685 others(32): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190261443 | A | ACTATAAA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 240 | 0.0042 | 15 | c.618 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190277118 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 240 | 0.0042 | 15 | c.427 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405450 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083 | 2 | 240 | 0.0083 | 15 | c.236 others(34): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 240 | 0.0042 | 15 | c.236 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190457460 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01081.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0196a0001c0001t0001g0197others(43): Show | 46 | 240 | 0.1917 | 15 | c.-50 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61689026 | C | CTGTTATG others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00639.hp1 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0032a0001c0001t0001g0073a0001c0001t0002g0052others(30): Show | 33 | 266 | 0.1241 | 15 | c.257 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765423 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 | 1 | 266 | 0.0038 | 15 | c.209 others(36): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61791488 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0260 | 1 | 266 | 0.0038 | 15 | c.147 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 322 | 0.0031 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(72): Show |
a0002a0004a0006others(3): Show | a0002c0002a0002c0003a0004c0005others(4): Show | a0002c0002t0002a0002c0002t0010a0002c0003t0002others(5): Show | a0002c0002t0002g0003a0002c0002t0002g0011a0002c0002t0002g0017others(52): Show | 75 | 322 | 0.2329 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0196 | 1 | 322 | 0.0031 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873784 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 374 | 0.0027 | 15 | c.*33 others(26): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1822 | chr14 | TogoVar | ||||||
BRPF1_chr3_9726735_9753015 | 9731752 | T | TCGCCGCC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02735.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0015a0001c0001t0003g0094a0001c0004t0003g0066 | 4 | 426 | 0.0094 | 15 | c.-38 others(24): Show |
BRPF1 | ENSG00000156983.17 | transcript | ENST00000383829.7 | protein_coding | 1/14 | 2361 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
BRSK2_chr11_1384934_1467689 | 1389917 | A | ACGGCTCG others(8): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0020 | a0002c0002t0002g0140a0002c0002t0020g0125 | 2 | 360 | 0.0056 | 15 | c.-36 others(24): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 16 | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1446061 | G | GGCTGGGC others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG04204.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008a0002c0002t0010others(1): Show | a0001c0001t0001g0141a0002c0002t0008g0116a0002c0002t0010g0246others(1): Show | 4 | 360 | 0.0111 | 15 | c.122 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGAGGGC others(8): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0039 | a0002c0002t0012g0349a0002c0002t0039g0344 | 2 | 360 | 0.0056 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGGGGGC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(36): Show | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0001t0001g0072others(122): Show | 126 | 360 | 0.3500 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGGGGGC others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 360 | 0.0028 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454161 | G | AGGGCTCA others(8): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0006 | 2 | 360 | 0.0056 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454161 | G | GGGGCTCA others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18993.hp1 NA19070.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0017 | a0002c0002t0002g0079a0002c0002t0007g0302a0002c0002t0007g0306others(1): Show | 4 | 360 | 0.0111 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1454176 | G | GGGGCTCA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0044others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0044others(18): Show | 21 | 360 | 0.0583 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39286016 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0327 | 1 | 338 | 0.0030 | 15 | c.832 others(32): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80751981 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0165 | 1 | 265 | 0.0038 | 15 | c.431 others(32): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809742 | G | GAGAGAGA others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0025a0001c0001t0026others(2): Show | a0001c0001t0013g0018a0001c0001t0013g0019a0001c0001t0013g0021others(6): Show | 9 | 265 | 0.0340 | 15 | c.-27 others(24): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 272 | chrX | TogoVar | |||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0034 | 1 | 330 | 0.0030 | 15 | c.487 others(32): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570588 | T | TGGAGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0022a0001c0001t0003g0097a0001c0001t0003g0098others(7): Show | 11 | 306 | 0.0360 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2007 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570619 | C | CGGAGGGG others(8): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 306 | 0.0033 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1976 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570627 | C | CGGGTGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0007 | 1 | 306 | 0.0033 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1968 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570630 | G | GTGGGGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0003 | 1 | 306 | 0.0033 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1965 | chr19 | TogoVar |