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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAG4_chr8_38171855_38218301 | 38201867 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0022a0001c0002t0001others(1): Show | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0210others(4): Show | 7 | 306 | 0.0229 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38201869 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0170a0001c0001t0001g0179a0001c0001t0001g0183others(4): Show | 7 | 306 | 0.0229 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38201871 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02273.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0227a0001c0001t0003g0158a0001c0001t0003g0188 | 3 | 306 | 0.0098 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81391086 | GGGGCGCA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02257.hp1 HG02818.hp2 others(2): Show |
a0001a0002a0052 | a0001c0007a0001c0012a0002c0001others(1): Show | a0001c0007t0015a0001c0007t0033a0001c0012t0002others(2): Show | a0001c0007t0015g0275a0001c0007t0033g0135a0001c0012t0002g0133others(2): Show | 5 | 332 | 0.0151 | -9 | c.-47 others(20): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 4370 | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81398772 | CGGGCCTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(172): Show |
a0001a0002a0003others(29): Show | a0001c0003a0001c0007a0001c0009others(59): Show | a0001c0003t0003a0001c0007t0015a0001c0009t0004others(71): Show | a0001c0003t0003g0044a0001c0003t0003g0046a0001c0003t0003g0047others(169): Show | 175 | 332 | 0.5271 | -9 | c.-20 others(26): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98384693 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0017a0001c0003t0008 | a0001c0001t0004g0089a0001c0001t0004g0090a0001c0001t0004g0091others(37): Show | 40 | 298 | 0.1342 | -9 | c.51+ others(26): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81099429 | GGGCTGAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0037others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0073others(83): Show | 86 | 376 | 0.2287 | -9 | c.490 others(24): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP3_chr16_1328645_1354439 | 1344740 | AGCCAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(185): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(93): Show | 188 | 358 | 0.5251 | -9 | c.175 others(24): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 19/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101839936 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp1 others(2): Show |
a0001a0011 | a0001c0002a0011c0020 | a0001c0002t0001a0001c0002t0003a0011c0020t0004 | a0001c0002t0001g0168a0001c0002t0001g0170a0001c0002t0003g0050others(2): Show | 5 | 284 | 0.0176 | -9 | c.469 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87967254 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(50): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0008others(6): Show | a0001c0004t0004a0001c0004t0012a0001c0007t0005others(7): Show | a0001c0004t0004g0060a0001c0004t0004g0061a0001c0004t0004g0062others(50): Show | 53 | 352 | 0.1506 | -9 | c.-68 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88081403 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp1 others(53): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0014others(1): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(5): Show | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0009others(53): Show | 56 | 352 | 0.1591 | -9 | c.*47 others(20): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4088 | chr16 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751138 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA18939.hp1 NA18995.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0011 | a0002c0001t0001g0162a0002c0001t0001g0168a0002c0001t0011g0171 | 3 | 362 | 0.0083 | -9 | c.167 others(28): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0094a0001c0001t0002g0011 | 9 | 446 | 0.0202 | -9 | c.-23 others(20): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG02071.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0058a0001c0002t0002g0083a0001c0002t0002g0086others(10): Show | 13 | 380 | 0.0342 | -9 | c.183 others(26): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0004a0001c0003t0005others(1): Show | a0001c0001t0001g0023a0001c0002t0004g0364a0001c0002t0004g0365others(16): Show | 19 | 380 | 0.0500 | -9 | c.-21 others(20): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73512028 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0183a0001c0001t0003g0184a0001c0001t0003g0185others(8): Show | 11 | 200 | 0.0550 | -9 | c.108 others(26): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159368858 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0019others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0022others(108): Show | 111 | 216 | 0.5139 | -9 | c.421 others(28): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 27/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159541259 | CTTATTAT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0102 | 2 | 216 | 0.0093 | -9 | c.-3+ others(26): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159553392 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01169.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0101a0001c0001t0001g0102others(9): Show | 12 | 216 | 0.0556 | -9 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128159754 | TCCCCCCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(178): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(27): Show | 181 | 396 | 0.4571 | -9 | c.-65 others(18): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 510 | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74046402 | CATCCAGG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0000a0001a0004others(3): Show | a0000c0018a0001c0001a0004c0007others(4): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(11): Show | a0000c0018t0003g0175a0001c0001t0002g0003a0001c0001t0002g0292others(132): Show | 136 | 386 | 0.3523 | -9 | c.647 others(24): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27066630 | CCATGGAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(114): Show | 126 | 318 | 0.3962 | -9 | c.334 others(26): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00733.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0024a0001c0001t0045others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0143others(8): Show | 18 | 398 | 0.0452 | -9 | c.386 others(26): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121868684 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0008others(55): Show | 82 | 374 | 0.2193 | -9 | c.37- others(22): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107583950 | TTATATTA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0075a0001c0001t0003g0082others(5): Show | 8 | 222 | 0.0360 | -9 | c.-84 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107583990 | ATTATTAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01070.hp1 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(17): Show | a0001c0001t0002g0006a0001c0001t0002g0009a0001c0001t0002g0013others(30): Show | 33 | 222 | 0.1487 | -9 | c.-84 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01175.hp1 HG01255.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0093a0001c0001t0001g0168a0001c0001t0001g0206others(10): Show | 13 | 222 | 0.0586 | -9 | c.-83 others(28): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107700411 | CATCATTA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01256.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0059others(3): Show | a0001c0001t0001g0020a0001c0001t0004g0178a0001c0001t0059g0012others(7): Show | 10 | 222 | 0.0451 | -9 | c.-9- others(26): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107700414 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01346.hp2 others(24): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0018a0001c0001t0002g0031a0001c0001t0002g0048others(24): Show | 27 | 222 | 0.1216 | -9 | c.-9- others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAR1_chr16_75223181_75256624 | 75245964 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02129.hp1 others(8): Show |
a0002a0011 | a0002c0002a0002c0004a0002c0005others(1): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0026others(1): Show | a0002c0002t0001g0010a0002c0002t0001g0238a0002c0002t0001g0241others(6): Show | 11 | 392 | 0.0281 | -9 | c.13- others(24): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93564290 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0025others(8): Show | 11 | 202 | 0.0545 | -9 | c.230 others(28): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 11/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02683.hp2 others(8): Show |
a0001a0002a0009 | a0001c0001a0002c0006a0009c0015 | a0001c0001t0001a0002c0006t0001a0009c0015t0001 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0023others(8): Show | 11 | 202 | 0.0545 | -9 | c.-11 others(24): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53950140 | CACAGCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0035others(11): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(28): Show | a0001c0001t0002g0253a0001c0001t0002g0254a0001c0001t0011g0025others(69): Show | 72 | 364 | 0.1978 | -9 | c.181 others(28): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53950147 | CGTACAGC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(141): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0017others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0175a0001c0001t0001g0223a0001c0001t0001g0224others(138): Show | 144 | 364 | 0.3956 | -9 | c.181 others(28): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60782561 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0002a0003 | a0002c0005a0003c0001 | a0002c0005t0001a0003c0001t0001a0003c0001t0002 | a0002c0005t0001g0018a0002c0005t0001g0020a0003c0001t0001g0028others(1): Show | 4 | 74 | 0.0541 | -9 | c.404 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60920870 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001 | a0001c0004t0001g0058a0002c0003t0001g0041 | 2 | 74 | 0.0270 | -9 | c.994 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61059063 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp2 NA18906.hp1 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0006 | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0002g0057a0001c0004t0001g0046a0001c0004t0002g0044others(1): Show | 4 | 74 | 0.0541 | -9 | c.203 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61156020 | AAAGTGAC others(2): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0003a0002c0005 | a0001c0008t0002a0002c0003t0001a0002c0005t0001 | a0001c0008t0002g0062a0002c0003t0001g0015a0002c0003t0001g0016others(2): Show | 5 | 74 | 0.0676 | -9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61272636 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 HG03139.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0009 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0042a0001c0002t0002g0001a0002c0005t0001g0020others(1): Show | 4 | 74 | 0.0541 | -9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG01891.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(15): Show | a0001c0001t0001g0064a0001c0001t0002g0252a0001c0001t0002g0259others(24): Show | 27 | 322 | 0.0839 | -9 | c.6+2 others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48791917 | GATTCAAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG01258.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0035others(21): Show | 31 | 408 | 0.0760 | -9 | c.*35 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3146 | chr19 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80177225 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(129): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(129): Show | 132 | 294 | 0.4490 | -9 | c.742 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60467147 | ATGGTGGT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0001c0001t0016a0001c0001t0018others(1): Show | a0001c0001t0003g0168a0001c0001t0016g0254a0001c0001t0018g0209others(1): Show | 4 | 262 | 0.0153 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467213 | GTACTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02300.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012 | a0001c0001t0003g0153a0001c0001t0009g0204a0001c0001t0009g0205others(1): Show | 4 | 262 | 0.0153 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467275 | GGTGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0054 | a0001c0001t0001g0020a0001c0001t0005g0233a0001c0001t0054g0194 | 3 | 262 | 0.0115 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467306 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02897.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0099a0001c0001t0007g0112a0001c0001t0007g0113others(2): Show | 5 | 262 | 0.0191 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467323 | GGTGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0045a0001c0002t0001 | a0001c0001t0012g0213a0001c0001t0045g0114a0001c0002t0001g0061 | 3 | 262 | 0.0115 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467405 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02723.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0001t0063a0001c0002t0001 | a0001c0001t0045g0114a0001c0001t0063g0234a0001c0002t0001g0061 | 3 | 262 | 0.0115 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467533 | GGTGATGG others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0032a0001c0001t0064others(1): Show | a0001c0001t0021g0093a0001c0001t0032g0037a0001c0001t0064g0247others(1): Show | 4 | 262 | 0.0153 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467534 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0020a0001c0001t0001g0036a0001c0001t0001g0065others(17): Show | 20 | 262 | 0.0763 | -9 | c.487 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar |