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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX1_chrX_103057651_103069171 | 103060016 | CTA | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(1): Show | 5 | 339 | 0.0148 | -2 | c.*28 others(13): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060132 | TTG | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017a0001c0001t0003g0025a0001c0001t0003g0036others(1): Show | 8 | 339 | 0.0236 | -2 | c.*27 others(13): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2518 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103062268 | TAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | -2 | c.*62 others(11): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 382 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103062274 | TAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | -2 | c.*62 others(11): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 376 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103062294 | CAT | C | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | -2 | c.*60 others(11): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 356 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103062312 | ATG | A | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | -2 | c.*58 others(11): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 338 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103063464 | CCG | C | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01192.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0039a0001c0001t0002g0007others(1): Show | 28 | 339 | 0.0826 | -2 | c.-6+ others(15): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066003 | ATG | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(5): Show | 21 | 339 | 0.0620 | -2 | c.-20 others(13): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1833 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103309240 | ATG | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00642.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0004others(3): Show | 36 | 308 | 0.1169 | -2 | c.*34 others(11): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 105 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103309252 | GTA | G | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02071.hp1 HG02109.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0001a0001c0001t0007g0013a0001c0001t0008g0014others(1): Show | 20 | 308 | 0.0649 | -2 | c.*33 others(11): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 93 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103314265 | GAA | G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(90): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0004g0007a0001c0001t0005g0009others(3): Show | 93 | 308 | 0.3020 | -2 | c.-34 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 3276 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103314916 | GAA | G | upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0033 | -2 | c.-41 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 3927 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315600 | AGT | A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -2 | c.-48 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4611 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315656 | GTT | G | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -2 | c.-48 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4667 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315678 | TGA | T | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -2 | c.-49 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4689 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315685 | TAA | T | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -2 | c.-49 others(13): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4696 | chrX | TogoVar | ||||||
BEX3_chrX_103371538_103383164 | 103375602 | CTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010 | 26 | 298 | 0.0873 | -2 | c.-11 others(13): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 935 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103212327 | CTT | C | upstream_gene_variant | MODIFIER | HG01975.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008 | 2 | 334 | 0.0060 | -2 | c.-29 others(13): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2780 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103212998 | CGT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(5): Show | 74 | 334 | 0.2216 | -2 | c.-23 others(13): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2109 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103217063 | ACT | A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02559.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0001a0001c0001t0004g0012a0001c0001t0009g0001 | 19 | 334 | 0.0569 | -2 | c.*55 others(11): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 3/3 | 552 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX4_chrX_103210108_103222246 | 103217133 | ATG | A | 3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 334 | 0.0030 | -2 | c.*62 others(11): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 3/3 | 629 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX4_chrX_103210108_103222246 | 103218320 | GCA | G | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 334 | 0.0030 | -2 | c.*18 others(13): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 1075 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103219881 | AAG | A | downstream_gene_variant | MODIFIER | HG02486.hp1 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0002 | 2 | 334 | 0.0060 | -2 | c.*33 others(13): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2636 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102153606 | CAT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01358.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0025others(3): Show | 11 | 324 | 0.0340 | -2 | c.*32 others(11): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | ||||||
BFAR_chr16_14627951_14674236 | 14632600 | CTG | C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 NA19030.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0010 | a0002c0002t0006g0252a0002c0002t0006g0254a0002c0002t0006g0255others(1): Show | 4 | 317 | 0.0126 | -2 | c.-49 others(11): Show |
BFAR | ENSG00000103429.11 | transcript | ENST00000261658.7 | protein_coding | 350 | chr16 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17495903 | AAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
a0001a0003a0008others(1): Show | a0001c0003a0003c0007a0008c0020others(1): Show | a0001c0003t0002a0003c0007t0002a0008c0020t0002others(1): Show | a0001c0003t0002g0038a0001c0003t0002g0073a0003c0007t0002g0013others(7): Show | 11 | 396 | 0.0278 | -2 | c.104 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 7/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17497579 | TAC | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01071.hp2 others(64): Show |
a0001a0004a0005others(2): Show | a0001c0003a0001c0015a0004c0010others(3): Show | a0001c0003t0001a0001c0015t0001a0004c0010t0001others(3): Show | a0001c0003t0001g0005a0001c0003t0001g0032a0001c0003t0001g0040others(63): Show | 67 | 396 | 0.1692 | -2 | c.957 others(17): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17499242 | ATT | A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00642.hp1 others(87): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(10): Show | a0001c0002t0001g0041a0001c0002t0001g0059a0001c0002t0001g0060others(86): Show | 90 | 396 | 0.2273 | -2 | c.736 others(17): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17507270 | TAG | T | intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 HG03654.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0003a0002c0001t0002 | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0205others(4): Show | 7 | 396 | 0.0177 | -2 | c.735 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17507272 | GGT | G | intron_variant | MODIFIER | HG00738.hp1 HG02083.hp2 HG02257.hp2 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0012others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(5): Show | a0001c0002t0001g0250a0001c0002t0001g0253a0001c0002t0001g0257others(16): Show | 20 | 396 | 0.0505 | -2 | c.735 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17511117 | CTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(156): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0002t0001g0007a0001c0002t0001g0027a0001c0002t0001g0060others(147): Show | 159 | 396 | 0.4015 | -2 | c.627 others(17): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 4/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17521021 | GGA | G | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0015t0001 | a0001c0003t0001g0286a0001c0015t0001g0285a0001c0015t0001g0287 | 3 | 396 | 0.0076 | -2 | c.438 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17526141 | CGG | C | intron_variant | MODIFIER | HG01169.hp2 HG02145.hp1 HG02257.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0004others(5): Show | a0001c0002t0001g0058a0001c0002t0001g0061a0001c0002t0001g0067others(16): Show | 22 | 396 | 0.0556 | -2 | c.378 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17527750 | AAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(190): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0002t0001g0027a0001c0002t0001g0041a0001c0002t0001g0058others(178): Show | 193 | 396 | 0.4874 | -2 | c.378 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17529064 | AGT | A | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0284a0001c0003t0001g0274a0001c0003t0001g0275others(1): Show | 4 | 396 | 0.0101 | -2 | c.377 others(19): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133396150 | TAA | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(8): Show | 13 | 276 | 0.0471 | -2 | c.-39 others(13): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3905 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133411180 | GAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(131): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 134 | 276 | 0.4855 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133414035 | CCT | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0024others(9): Show | 12 | 276 | 0.0435 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133414243 | CCT | C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0024others(7): Show | 10 | 276 | 0.0362 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133414786 | ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(197): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(192): Show | 200 | 276 | 0.7246 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133415703 | CCT | C | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0149 | 3 | 276 | 0.0109 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133416033 | CCT | C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(3): Show | 6 | 276 | 0.0217 | -2 | c.489 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425969 | ATG | A | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(73): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 76 | 276 | 0.2754 | -2 | c.490 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTA | T | intron_variant | MODIFIER | HG01106.hp1 HG01516.hp1 HG01517.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0149others(8): Show | 11 | 276 | 0.0399 | -2 | c.490 others(17): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133449961 | AAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0137others(2): Show | 5 | 276 | 0.0181 | -2 | c.730 others(17): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133467004 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(46): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0019others(46): Show | 49 | 276 | 0.1775 | -2 | c.102 others(17): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153499778 | TGG | T | intron_variant | MODIFIER | NA19075.hp1 | a0007 | a0007c0008 | a0007c0008t0034 | a0007c0008t0034g0176 | 1 | 321 | 0.0031 | -2 | c.-12 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153500729 | ATG | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00673.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0030others(44): Show | 57 | 321 | 0.1776 | -2 | c.-11 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153500768 | TGC | T | intron_variant | MODIFIER | HG02071.hp1 HG03927.hp1 NA18954.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0133a0001c0001t0001g0161others(4): Show | 10 | 321 | 0.0312 | -2 | c.-11 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153501196 | TTG | T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0065 | 1 | 321 | 0.0031 | -2 | c.-11 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |