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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL9_chr1_147536501_147631216 | 147577834 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01358.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0003g0024 others(15): Show |
19 | 116 | 0.1638 | 14 | c.-47 others(35): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCLAF1_chr6_136251627_136294846 | 136279026 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18947.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 a0001c0001t0008g0111 a0001c0001t0008g0112 |
3 | 295 | 0.0102 | 14 | c.105 others(29): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
BCLAF1_chr6_136251627_136294846 | 136284128 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0037 | a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0015g0030 others(1): Show |
5 | 278 | 0.0180 | 14 | c.-11 others(33): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
BCLAF1_chr6_136251627_136294846 | 136284130 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0028 a0001c0001t0020g0243 |
3 | 81 | 0.0370 | 14 | c.-11 others(33): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
BCLAF1_chr6_136251627_136294846 | 136284130 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 79 | 0.0127 | 14 | c.-11 others(33): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
BCLAF1_chr6_136251627_136294846 | 136284130 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0038others(1): Show | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0003g0095 others(2): Show |
5 | 83 | 0.0602 | 14 | c.-11 others(33): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01099.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0004a0003c0009others(2): Show | a0001c0005t0001a0002c0004t0001a0003c0009t0001others(2): Show | a0001c0005t0001g0092 a0002c0004t0001g0036 a0002c0004t0001g0045 others(14): Show |
17 | 241 | 0.0705 | 14 | c.193 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 NA19240.hp1 |
a0001a0006 | a0001c0005a0006c0016 | a0001c0005t0001a0006c0016t0001 | a0001c0005t0001g0013 a0001c0005t0001g0014 a0006c0016t0001g0011 |
3 | 388 | 0.0077 | 14 | c.193 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270686 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 393 | 0.0025 | 14 | c.110 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270692 | C | CTCTGTGT others(7): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0384 others(1): Show |
4 | 15 | 0.2667 | 14 | c.110 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81270692 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0004others(3): Show | a0001c0001t0001a0001c0018t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0324 others(33): Show |
38 | 49 | 0.7755 | 14 | c.110 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043746 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01978.hp1 HG02818.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0016 | a0001c0001t0001a0001c0001t0013a0003c0016t0001 | a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0165 others(4): Show |
7 | 154 | 0.0455 | 14 | c.484 others(33): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0141 | 1 | 136 | 0.0074 | 14 | c.484 others(33): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046544 | A | ATATATAT others(7): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 251 | 0.0040 | 14 | c.*55 others(25): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4706 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046568 | A | ATATATAT others(7): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 254 | 0.0039 | 14 | c.*55 others(25): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4682 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23202721 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01975.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0166a0001c0001t0187a0001c0002t0006others(6): Show | a0001c0001t0166g0252 a0001c0001t0187g0248 a0001c0002t0006g0242 others(8): Show |
11 | 116 | 0.0948 | 14 | c.127 others(35): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGGGTGTG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0188 | 1 | 181 | 0.0055 | 14 | c.*12 others(25): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01943.hp1 HG02132.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0027a0001c0001t0053others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0194 others(4): Show |
8 | 188 | 0.0426 | 14 | c.*12 others(25): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96213495 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 50 | 0.0200 | 14 | c.-40 others(31): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96216707 | G | GGAGGAGG others(7): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 434 | 0.0023 | 14 | c.-40 others(33): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697158 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 288 | 0.0035 | 14 | c.-22 others(31): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697164 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0243 | 1 | 68 | 0.0147 | 14 | c.-22 others(31): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66461569 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 24 | 0.0417 | 14 | c.26- others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01175.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0162 others(19): Show |
22 | 46 | 0.4783 | 14 | c.-12 others(31): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123694 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0150 | 1 | 177 | 0.0056 | 14 | c.114 others(33): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123700 | A | AAAAACAA others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01257.hp2 others(19): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0009 | a0001c0001t0004a0001c0001t0006a0001c0004t0006others(1): Show | a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0097 others(15): Show |
22 | 224 | 0.0982 | 14 | c.114 others(33): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123703 | A | AAACAAAA others(7): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0149 | 1 | 218 | 0.0046 | 14 | c.114 others(33): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762614 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 308 | 0.0032 | 14 | c.227 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762656 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 98 | 0.0102 | 14 | c.227 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769526 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 101 | 0.0099 | 14 | c.226 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686779 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 181 | 0.0055 | 14 | c.481 others(31): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686786 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03195.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0195 a0001c0001t0003g0191 a0001c0001t0003g0192 others(2): Show |
5 | 291 | 0.0172 | 14 | c.481 others(31): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 24 | 0.0833 | 14 | c.*32 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02257.hp2 HG02647.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0004others(1): Show | a0001c0002t0001g0044 a0001c0002t0001g0301 a0001c0002t0001g0314 others(5): Show |
8 | 159 | 0.0503 | 14 | c.377 others(31): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529090 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0308 | 1 | 372 | 0.0027 | 14 | c.377 others(31): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133409227 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(6): Show |
9 | 27 | 0.3333 | 14 | c.489 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 30 | 0.0333 | 14 | c.490 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0036 others(44): Show |
48 | 89 | 0.5393 | 14 | c.892 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153496948 | G | GCCCACCC others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(127): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(75): Show |
130 | 279 | 0.4660 | 14 | c.-12 others(31): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153496955 | C | CCCCACCC others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 | 1 | 319 | 0.0031 | 14 | c.-12 others(31): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513531 | G | GTGGGGGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0025 | 1 | 319 | 0.0031 | 14 | c.*50 others(25): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3986 | chrX | TogoVar | |||||||
BHLHA15_chr7_98206439_98220457 | 98208752 | C | CATTCACC others(7): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0001 | 1 | 454 | 0.0022 | 14 | c.-28 others(25): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 2686 | chr7 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275603 | G | GTGGGGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 2 | 427 | 0.0047 | 14 | c.*43 others(25): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3789 | chr17 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64576503 | T | TTCTCGGT others(7): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 14 | c.-42 others(25): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 3861 | chr8 | TogoVar | |||||||
BHMT2_chr5_79064767_79095069 | 79087010 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 343 | 0.0029 | 14 | c.101 others(33): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0011 | a0001c0011t0018 | a0001c0011t0018g0224 | 1 | 59 | 0.0169 | 14 | c.101 others(33): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79088358 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0212 a0002c0003t0001g0223 |
2 | 89 | 0.0225 | 14 | c.101 others(30): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79136989 | T | TATGAATA others(7): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0290 |
2 | 340 | 0.0059 | 14 | c.*58 others(25): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4702 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137212 | C | CATATACG others(7): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 425 | 0.0024 | 14 | c.*60 others(25): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4925 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137270 | A | AATACATA others(7): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 284 | 0.0035 | 14 | c.*61 others(25): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4983 | chr5 | TogoVar |