view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO1_chr16_81233689_81296142 | 81243454 | A | ATCATTCA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0021 a0001c0005t0001g0022 |
2 | 241 | 0.0083 | 16 | c.65- others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00741.hp2 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0004a0005c0010others(1): Show | a0001c0002t0001a0002c0004t0001a0005c0010t0001others(1): Show | a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0043 others(23): Show |
26 | 250 | 0.1040 | 16 | c.193 others(33): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81251872 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 a0002c0004t0001g0012 |
2 | 387 | 0.0052 | 16 | c.193 others(33): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270692 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02015.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0003others(1): Show | a0001c0002t0001a0002c0004t0001a0003c0003t0001others(1): Show | a0001c0002t0001g0084 a0001c0002t0001g0108 a0002c0004t0001g0104 others(4): Show |
7 | 18 | 0.3889 | 16 | c.110 others(33): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112192943 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0015 | a0015c0021 | a0015c0021t0002 | a0015c0021t0002g0122 | 1 | 376 | 0.0027 | 16 | c.294 others(31): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046552 | A | ATATATGT others(9): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 238 | 0.0042 | 16 | c.*55 others(27): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4698 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23202721 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01358.hp2 HG02132.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0185a0001c0001t0200a0001c0004t0068others(4): Show | a0001c0001t0185g0213 a0001c0001t0200g0197 a0001c0004t0068g0084 others(4): Show |
7 | 112 | 0.0625 | 16 | c.127 others(37): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510597 | G | GGTGTGTG others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 316 | 0.0032 | 16 | c.*12 others(27): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1297 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG02523.hp1 NA18942.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(7): Show |
10 | 190 | 0.0526 | 16 | c.*12 others(27): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103102328 | C | CATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 307 | 0.0033 | 16 | c.-25 others(27): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2495 | chr4 | TogoVar | |||||||
BDKRB1_chr14_96251210_96269763 | 96267598 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069 | 1 | 442 | 0.0023 | 16 | c.*28 others(27): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 2836 | chr14 | TogoVar | |||||||
BDKRB2_chr14_96199839_96249164 | 96216720 | A | AAGGAGGA others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0134 others(24): Show |
27 | 432 | 0.0625 | 16 | c.-40 others(35): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27697164 | C | CAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0046 | 2 | 69 | 0.0290 | 16 | c.-22 others(33): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71506786 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03486.hp1 |
a0004 | a0004c0004 | a0004c0004t0004a0004c0004t0010 | a0004c0004t0004g0310 a0004c0004t0010g0320 |
2 | 171 | 0.0117 | 16 | c.237 others(35): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66461569 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 24 | 0.0417 | 16 | c.26- others(31): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474557 | A | AGAGGGAG others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 286 | 0.0035 | 16 | c.290 others(33): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474561 | G | GGAGGGAG others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 294 | 0.0034 | 16 | c.290 others(33): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474602 | G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18968.hp2 NA18998.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0142 a0001c0001t0003g0147 others(2): Show |
6 | 268 | 0.0224 | 16 | c.290 others(33): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474605 | A | AGAGGGAG others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 194 | 0.0052 | 16 | c.290 others(33): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG03669.hp1 NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0002g0099 |
3 | 34 | 0.0882 | 16 | c.290 others(33): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073201 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18948.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0015 | a0001c0001t0003g0170 a0001c0003t0015g0068 |
2 | 224 | 0.0089 | 16 | c.241 others(33): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0306 | 1 | 223 | 0.0045 | 16 | c.241 others(33): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 25 | 0.0400 | 16 | c.-12 others(33): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123702 | A | AACAAAAA others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00738.hp1 others(49): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0002g0002 others(32): Show |
52 | 224 | 0.2321 | 16 | c.114 others(35): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13528412 | C | CCGCGGGC others(9): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18997.hp1 NA18999.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0040 others(3): Show |
8 | 298 | 0.0268 | 16 | c.61+ others(27): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61951197 | A | ATTATTTA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0068 | 1 | 369 | 0.0027 | 16 | c.-36 others(31): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61953886 | A | AAAACAAA others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 2 | 139 | 0.0144 | 16 | c.153 others(33): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61957972 | T | TCAAACAA others(9): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 71 | 0.0141 | 16 | c.715 others(31): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69686771 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0282 others(63): Show |
74 | 345 | 0.2145 | 16 | c.481 others(33): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686771 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 272 | 0.0037 | 16 | c.481 others(33): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686779 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0097 others(19): Show |
26 | 206 | 0.1262 | 16 | c.481 others(33): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTATAT others(9): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 240 | 0.0042 | 16 | c.*28 others(27): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTCTCT others(9): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 240 | 0.0042 | 16 | c.*28 others(27): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 23 | 0.0435 | 16 | c.*32 others(25): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17489135 | T | TGGGGAGT others(9): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 NA18979.hp2 NA19082.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0344 a0001c0002t0001g0352 a0002c0001t0002g0337 |
3 | 394 | 0.0076 | 16 | c.*49 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 4769 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0004 | a0001c0003t0001g0042 a0001c0003t0001g0299 a0001c0005t0004g0292 others(6): Show |
9 | 160 | 0.0563 | 16 | c.377 others(33): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529090 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 |
a0005a0011 | a0005c0009a0011c0018 | a0005c0009t0001a0011c0018t0001 | a0005c0009t0001g0023 a0011c0018t0001g0024 |
2 | 373 | 0.0054 | 16 | c.377 others(33): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133424216 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 others(5): Show |
8 | 231 | 0.0346 | 16 | c.490 others(35): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425225 | G | GGGGGGGG others(9): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 274 | 0.0036 | 16 | c.490 others(35): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01943.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0076 others(14): Show |
17 | 84 | 0.2024 | 16 | c.730 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133450016 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02055.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0161 a0001c0001t0001g0163 others(2): Show |
5 | 188 | 0.0266 | 16 | c.730 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01952.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0266 a0001c0002t0001g0049 others(7): Show |
10 | 51 | 0.1961 | 16 | c.892 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGLAP_chr1_156237184_156248317 | 156237590 | G | GCATGAGC others(9): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 |
6 | 398 | 0.0151 | 16 | c.-46 others(27): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 4593 | chr1 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1266337 | C | CCAGAAAG others(9): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 440 | 0.0023 | 16 | c.-42 others(27): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4106 | chr17 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4983829 | G | GGTGTGTG others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0035 | 1 | 109 | 0.0092 | 16 | c.*14 others(25): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 59 | 0.0169 | 16 | c.101 others(35): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTGTGCAT others(9): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 59 | 0.0169 | 16 | c.101 others(35): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TAATATAT others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01109.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0089 others(13): Show |
16 | 32 | 0.5000 | 16 | c.191 others(35): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58607317 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0065 | 1 | 22 | 0.0455 | 16 | c.191 others(35): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58718742 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0118 | 1 | 47 | 0.0213 | 16 | c.307 others(35): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |