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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRWD3_chrX_80664503_80814877 | 80809748 | G | GAGAGGAA others(1): Show |
5_prime_UTR_variant | MODIFIER | HG02683.hp1 NA18954.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0066 | a0001c0001t0029g0046a0001c0001t0029g0047a0001c0001t0066g0045 | 3 | 265 | 0.0113 | 8 | c.-27 others(17): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 278 | chrX | TogoVar | |||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01106.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0008 | a0001c0001t0001a0002c0003t0002a0004c0008t0001 | a0001c0001t0001g0024a0001c0001t0001g0043a0001c0001t0001g0089others(12): Show | 16 | 330 | 0.0485 | 8 | c.487 others(25): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTTTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp2 HG01891.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0190a0001c0002t0001g0066a0001c0002t0001g0073others(1): Show | 4 | 330 | 0.0121 | 8 | c.487 others(25): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32360845 | C | CATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(14): Show | 19 | 170 | 0.1118 | 8 | c.*57 others(19): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3787 | chr1 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570627 | C | CGGGTGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(85): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0096a0001c0001t0002g0002a0001c0001t0002g0046others(55): Show | 88 | 306 | 0.2876 | 8 | c.-20 others(19): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1968 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 572086 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02155.hp2 HG03239.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0005a0004c0009t0003a0004c0009t0022 | a0001c0001t0005g0005a0001c0001t0005g0080a0004c0009t0003g0092others(1): Show | 4 | 306 | 0.0131 | 8 | c.-54 others(17): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 509 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 576961 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(44): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(5): Show | a0001c0003t0001g0058a0001c0003t0001g0066a0001c0003t0001g0082others(25): Show | 47 | 306 | 0.1536 | 8 | c.68- others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0092a0002c0002t0096a0002c0002t0097 | a0002c0002t0092g0023a0002c0002t0096g0023a0002c0002t0097g0023 | 3 | 448 | 0.0067 | 8 | c.-23 others(19): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 55017722 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0138a0001c0001t0148others(1): Show | a0001c0001t0025g0028a0001c0001t0138g0129a0001c0001t0148g0108others(1): Show | 5 | 448 | 0.0112 | 8 | c.*90 others(19): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 551 | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49582952 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0017a0001c0027others(20): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(32): Show | a0001c0001t0002g0095a0001c0001t0002g0097a0001c0001t0002g0104others(87): Show | 90 | 186 | 0.4839 | 8 | c.224 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49586326 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01106.hp1 others(54): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0016a0002c0002others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(18): Show | a0001c0001t0002g0097a0001c0001t0002g0102a0001c0001t0002g0110others(54): Show | 57 | 186 | 0.3065 | 8 | c.224 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49589082 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01934.hp1 others(7): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0024 | a0002c0002t0001g0053a0002c0002t0001g0061a0002c0002t0001g0078others(7): Show | 10 | 186 | 0.0538 | 8 | c.224 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01516.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0147a0001c0001t0003g0123a0001c0001t0007g0006others(11): Show | 14 | 186 | 0.0753 | 8 | c.225 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01993.hp1 HG02451.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0117others(9): Show | 12 | 444 | 0.0270 | 8 | c.*3- others(23): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47974255 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0323a0001c0001t0003g0276a0001c0001t0003g0322others(7): Show | 10 | 444 | 0.0225 | 8 | c.*2+ others(23): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47978001 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01070.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0097a0001c0001t0001g0098others(27): Show | 31 | 444 | 0.0698 | 8 | c.125 others(23): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113352480 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01106.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0236a0001c0001t0002g0050a0001c0001t0004g0249others(52): Show | 64 | 448 | 0.1429 | 8 | c.202 others(25): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BSPRY_chr9_113344541_113376222 | 113362174 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG02559.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0002c0003t0002a0003c0004t0003 | a0001c0002t0001g0206a0002c0003t0002g0245a0003c0004t0003g0052 | 4 | 448 | 0.0089 | 8 | c.532 others(23): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15698713 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(89): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(80): Show | 92 | 442 | 0.2081 | 8 | c.-44 others(19): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4351 | chr4 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15707834 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01257.hp1 others(41): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0011others(4): Show | a0001c0001t0001g0298a0001c0001t0001g0326a0001c0001t0001g0327others(28): Show | 44 | 442 | 0.0996 | 8 | c.451 others(23): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15707855 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01261.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0004t0002a0004c0005t0001 | a0001c0001t0001g0053a0001c0004t0002g0152a0004c0005t0001g0005others(1): Show | 10 | 442 | 0.0226 | 8 | c.451 others(23): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15707855 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01192.hp2 others(13): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0008others(1): Show | a0001c0001t0001a0004c0005t0001a0005c0008t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0297a0001c0001t0001g0324others(10): Show | 16 | 442 | 0.0362 | 8 | c.451 others(23): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BST2_chr19_17397939_17410630 | 17405591 | A | AGCTGAAA others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(337): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0015others(26): Show | 340 | 412 | 0.8252 | 8 | c.-17 others(15): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 1/5 | 17 | chr19 | TogoVar | |||||
BST2_chr19_17397939_17410630 | 17410494 | C | CTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 4 | 412 | 0.0097 | 8 | c.-49 others(19): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4865 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410497 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0005 | 9 | 412 | 0.0218 | 8 | c.-49 others(19): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4868 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410500 | A | ATATGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | 8 | c.-49 others(19): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4871 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410539 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0018a0001c0001t0013g0028 | 3 | 412 | 0.0073 | 8 | c.-49 others(19): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4910 | chr19 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122975154 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG02258.hp2 HG03486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(5): Show | 8 | 422 | 0.0190 | 8 | c.*24 others(19): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 2415 | chr11 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122983410 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG03654.hp1 NA18963.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0017others(2): Show | 17 | 422 | 0.0403 | 8 | c.-17 others(19): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1577 | chr11 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91991265 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171a0001c0001t0002g0272a0001c0001t0002g0302 | 3 | 330 | 0.0091 | 8 | c.285 others(25): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 91991838 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326a0001c0001t0001g0327a0001c0001t0001g0328others(1): Show | 4 | 330 | 0.0121 | 8 | c.285 others(25): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 92012200 | C | CCTCCCCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01099.hp2 others(22): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0001t0012a0001c0006t0001others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0097a0001c0001t0001g0098others(21): Show | 25 | 330 | 0.0758 | 8 | c.431 others(25): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 92024731 | A | AGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0005a0005c0009others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0003g0153a0001c0001t0003g0161a0001c0001t0003g0177others(60): Show | 63 | 330 | 0.1909 | 8 | c.486 others(23): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 92032006 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165a0001c0001t0002g0167a0001c0001t0002g0172others(7): Show | 10 | 330 | 0.0303 | 8 | c.*30 others(19): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 570 | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92032009 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0122a0001c0001t0001g0124a0001c0001t0001g0128others(5): Show | 8 | 330 | 0.0242 | 8 | c.*30 others(19): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 573 | chr10 | TogoVar | ||||||
BTBD10_chr11_13383008_13468222 | 13430974 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0019others(78): Show | 99 | 356 | 0.2781 | 8 | c.102 others(25): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
BTBD10_chr11_13383008_13468222 | 13430974 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0011a0001c0001t0003g0046a0002c0004t0001g0070others(2): Show | 6 | 356 | 0.0169 | 8 | c.102 others(25): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
BTBD10_chr11_13383008_13468222 | 13431002 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0139others(7): Show | 10 | 356 | 0.0281 | 8 | c.102 others(25): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
BTBD16_chr10_122266296_122343159 | 122272678 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01993.hp2 HG03225.hp1 |
a0002a0003 | a0002c0034a0003c0003 | a0002c0034t0001a0003c0003t0001 | a0002c0034t0001g0067a0003c0003t0001g0027a0003c0003t0001g0028 | 3 | 382 | 0.0079 | 8 | c.-43 others(25): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD16_chr10_122266296_122343159 | 122273221 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0011a0006c0009t0001g0083a0006c0009t0001g0084others(1): Show | 5 | 382 | 0.0131 | 8 | c.-43 others(25): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD16_chr10_122266296_122343159 | 122279511 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00673.hp1 others(58): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(9): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0080a0001c0001t0001g0089a0001c0001t0001g0100others(49): Show | 61 | 382 | 0.1597 | 8 | c.167 others(25): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD17_chr17_74351416_74366868 | 74362963 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0027 | 6 | 444 | 0.0135 | 8 | c.-11 others(19): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1096 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74362965 | C | CGCGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG02040.hp1 others(15): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0041others(1): Show | 18 | 444 | 0.0405 | 8 | c.-11 others(19): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1098 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74362965 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(113): Show |
a0001a0005a0006 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0014others(15): Show | 116 | 444 | 0.2613 | 8 | c.-11 others(19): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1098 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74364473 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0036others(5): Show | 37 | 444 | 0.0833 | 8 | c.-26 others(19): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 2606 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74365044 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(37): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(8): Show | 40 | 444 | 0.0901 | 8 | c.-32 others(19): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 3177 | chr17 | TogoVar | ||||||
BTBD18_chr11_57738514_57756819 | 57756410 | C | CCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01255.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(4): Show | 13 | 354 | 0.0367 | 8 | c.-49 others(19): Show |
BTBD18 | ENSG00000233436.8 | transcript | ENST00000422652.6 | protein_coding | 4592 | chr11 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44814148 | C | CTCTTTCT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0033a0001c0001t0044others(3): Show | a0001c0001t0009g0002a0001c0001t0009g0003a0001c0001t0009g0004others(12): Show | 20 | 436 | 0.0459 | 8 | c.*43 others(17): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 442 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
BTBD19_chr1_44803523_44820585 | 44814156 | T | TTCTTTCT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG02074.hp1 HG02080.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0023 | a0001c0001t0013g0005a0001c0001t0013g0008a0001c0001t0013g0031others(3): Show | 11 | 436 | 0.0252 | 8 | c.*39 others(17): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 392 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
BTBD19_chr1_44803523_44820585 | 44814224 | C | CTTTCTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02055.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0136 | a0001c0001t0020g0007a0001c0001t0020g0093a0001c0001t0136g0007 | 5 | 436 | 0.0115 | 8 | c.*45 others(17): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 454 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |