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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCR_chr22_23175509_23323037 | 23211655 | T | TTTTTG | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01169.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0051a0001c0001t0082a0001c0001t0132others(11): Show | a0001c0001t0051g0259a0001c0001t0082g0124a0001c0001t0132g0276others(14): Show | 17 | 296 | 0.0574 | 5 | c.127 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23231506 | C | CATAAA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0017others(31): Show | a0001c0001t0008g0125a0001c0001t0009g0109a0001c0001t0009g0116others(35): Show | 39 | 296 | 0.1318 | 5 | c.128 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGT | 3_prime_UTR_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0038a0001c0001t0118others(2): Show | a0001c0001t0023g0025a0001c0001t0023g0174a0001c0001t0038g0151others(4): Show | 7 | 319 | 0.0219 | 5 | c.*12 others(16): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | |||||
BDH2_chr4_103072592_103104834 | 103102346 | T | TATATA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02293.hp2 HG03669.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0012a0002c0002t0003g0076a0002c0002t0003g0087others(2): Show | 6 | 382 | 0.0157 | 5 | c.-25 others(16): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2513 | chr4 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103104007 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0009t0018others(1): Show | a0001c0001t0001g0106a0001c0001t0002g0013a0001c0009t0018g0105others(1): Show | 7 | 382 | 0.0183 | 5 | c.-42 others(16): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 4174 | chr4 | TogoVar | ||||||
BDKRB1_chr14_96251210_96269763 | 96265206 | G | GTTTGC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0013others(24): Show | 49 | 444 | 0.1104 | 5 | c.*46 others(14): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 444 | chr14 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71496438 | A | ATTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG01261.hp2 others(9): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0006 | a0001c0001t0002a0001c0001t0019a0006c0007t0002others(1): Show | a0001c0001t0002g0014a0001c0001t0002g0048a0001c0001t0002g0080others(9): Show | 12 | 325 | 0.0369 | 5 | c.180 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 12/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71544904 | A | AAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp2 others(22): Show |
a0001a0007a0008 | a0001c0001a0007c0006a0008c0009 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0030a0001c0001t0002g0036others(22): Show | 25 | 325 | 0.0769 | 5 | c.656 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71557375 | A | ATTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02965.hp2 others(5): Show |
a0006a0022a0040 | a0006c0007a0006c0024a0006c0028others(2): Show | a0006c0007t0002a0006c0024t0002a0006c0028t0021others(2): Show | a0006c0007t0002g0103a0006c0007t0002g0105a0006c0007t0002g0106others(5): Show | 8 | 325 | 0.0246 | 5 | c.724 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEND2_chrX_18157931_18225886 | 18172912 | T | TTATAA | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 295 | 0.0034 | 5 | c.198 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 12/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18193329 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp1 others(61): Show |
a0001a0008 | a0001c0001a0001c0011a0008c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0027others(59): Show | 64 | 295 | 0.2170 | 5 | c.118 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18219905 | G | GAAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(12): Show | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0202others(82): Show | 87 | 295 | 0.2949 | 5 | c.25+ others(18): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 1/13 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAA | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0002t0001g0077a0001c0002t0006g0080a0001c0002t0006g0113others(3): Show | 6 | 368 | 0.0163 | 5 | c.-12 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42123694 | G | GAAAAA | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0014a0001c0001t0007g0046a0001c0001t0015g0096others(1): Show | 5 | 226 | 0.0221 | 5 | c.114 others(24): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48769570 | C | CACACA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0033a0001c0002t0001g0037a0001c0002t0001g0038others(5): Show | 8 | 342 | 0.0234 | 5 | c.226 others(22): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56975286 | A | ATCACT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0014others(53): Show | 67 | 204 | 0.3284 | 5 | c.-10 others(24): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND6_chr6_56950107_57032346 | 56978280 | C | CTAAAA | intron_variant | MODIFIER | HG02451.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121 | 2 | 204 | 0.0098 | 5 | c.-10 others(24): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND6_chr6_56950107_57032346 | 57028705 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02723.hp2 HG02818.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(11): Show | 15 | 204 | 0.0735 | 5 | c.*26 others(16): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1360 | chr6 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13447148 | T | TGCAGA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00741.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(66): Show | 76 | 300 | 0.2533 | 5 | c.123 others(22): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13499724 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(157): Show | 175 | 300 | 0.5833 | 5 | c.448 others(18): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69670764 | T | TTTTTG | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0006 | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0098others(9): Show | 15 | 366 | 0.0410 | 5 | c.110 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0280a0001c0001t0003g0187a0001c0001t0007g0236others(4): Show | 7 | 366 | 0.0191 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680311 | T | TTCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(112): Show |
a0001a0007a0009 | a0001c0001a0001c0010a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(92): Show | 115 | 366 | 0.3142 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69682081 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0032a0001c0001t0001g0198others(108): Show | 123 | 366 | 0.3361 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69684981 | G | GTTCTA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0029others(63): Show | 73 | 366 | 0.1995 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69686185 | G | GAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0031a0001c0001t0003g0185a0001c0001t0003g0186others(7): Show | 11 | 366 | 0.0301 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103063462 | G | GCCCCC | intron_variant | MODIFIER | HG02055.hp1 HG03942.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0040 | 3 | 339 | 0.0089 | 5 | c.-6+ others(18): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103064586 | C | CCCTCA | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 339 | 0.0030 | 5 | c.-58 others(14): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 416 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066059 | A | ATATAT | upstream_gene_variant | MODIFIER | HG02165.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0031 | 2 | 339 | 0.0059 | 5 | c.-20 others(16): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1889 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315567 | T | TTACCG | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | 5 | c.-47 others(16): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4578 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103212236 | C | CTATGG | upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 334 | 0.0030 | 5 | c.-30 others(16): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2871 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103213604 | A | AATCGG | upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 334 | 0.0030 | 5 | c.-17 others(16): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 1503 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17509146 | A | AGGTGG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(114): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0001g0029a0001c0002t0001g0058a0001c0002t0001g0059others(109): Show | 117 | 396 | 0.2955 | 5 | c.628 others(20): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 4/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133422105 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(20): Show | 23 | 276 | 0.0833 | 5 | c.489 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133424222 | T | TGTGTG | intron_variant | MODIFIER | HG04184.hp2 NA18964.hp2 NA18995.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0219a0001c0002t0001g0120a0001c0002t0001g0213 | 3 | 276 | 0.0109 | 5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133436325 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG02559.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0002t0001a0006c0009t0001 | a0001c0001t0001g0032a0001c0001t0001g0162a0001c0001t0001g0163others(6): Show | 9 | 276 | 0.0326 | 5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153496948 | G | GCCCAC | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 321 | 0.0031 | 5 | c.-12 others(22): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCGGG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01168.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(13): Show | 35 | 436 | 0.0803 | 5 | c.*46 others(16): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | ||||||
BHLHE41_chr12_26115030_26130037 | 26121063 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 NA18999.hp2 NA19002.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0010a0002c0002t0009 | a0001c0001t0009g0019a0001c0001t0010g0017a0002c0002t0009g0038 | 5 | 422 | 0.0119 | 5 | c.*99 others(15): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 5/5 | 1002 | chr12 | TogoVar | |||||
BHMT_chr5_79106809_79137288 | 79128528 | T | TAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG04115.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0201a0001c0001t0001g0202others(3): Show | 6 | 432 | 0.0139 | 5 | c.103 others(22): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58542169 | A | ACAAAC | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0040a0001c0001t0042a0002c0002t0013others(5): Show | a0001c0001t0040g0126a0001c0001t0042g0130a0002c0002t0013g0127others(8): Show | 11 | 132 | 0.0833 | 5 | c.190 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58555306 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01517.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0003a0001c0001t0003g0005a0001c0001t0003g0006others(2): Show | 5 | 132 | 0.0379 | 5 | c.190 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58621903 | T | TTAGAA | intron_variant | MODIFIER | HG01167.hp1 HG02040.hp2 HG02155.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0028others(5): Show | a0001c0001t0007g0080a0001c0001t0011g0077a0001c0001t0028g0048others(5): Show | 8 | 132 | 0.0606 | 5 | c.237 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58708002 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01081.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(5): Show | a0001c0001t0003g0024a0001c0001t0003g0059a0001c0001t0007g0095others(6): Show | 9 | 132 | 0.0682 | 5 | c.307 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00741.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0255a0001c0001t0004g0019a0001c0001t0004g0032others(20): Show | 23 | 290 | 0.0793 | 5 | c.-19 others(16): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32115386 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0194a0001c0001t0001g0208a0001c0001t0003g0234others(23): Show | 26 | 290 | 0.0897 | 5 | c.213 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32118060 | A | ATATTT | intron_variant | MODIFIER | HG01358.hp2 HG02723.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0032a0001c0001t0047others(2): Show | a0001c0001t0003g0246a0001c0001t0032g0033a0001c0001t0047g0247others(2): Show | 5 | 290 | 0.0172 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32119869 | T | TCAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(180): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0174a0001c0001t0001g0181a0001c0001t0001g0182others(180): Show | 183 | 290 | 0.6310 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32149263 | T | TGAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(237): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0049a0001c0001t0001g0174a0001c0001t0001g0181others(237): Show | 240 | 290 | 0.8276 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32157205 | A | ATTATT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0255a0001c0001t0004g0166a0001c0001t0004g0287others(13): Show | 16 | 290 | 0.0552 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |