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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL9_chr1_147536501_147631216 | 147540234 | T | TCTCTCTC others(7): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 316 | 0.0032 | 14 | c.-19 others(25): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1266 | chr1 | TogoVar | ||||||
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 | a0001c0001t0002g0179a0001c0001t0002g0188a0001c0001t0003g0024others(15): Show | 19 | 316 | 0.0601 | 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 | a0001c0001t0008g0105a0001c0001t0008g0109a0001c0001t0008g0110 | 3 | 310 | 0.0097 | 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 | a0001c0001t0007g0248a0001c0001t0007g0249a0001c0001t0015g0029others(1): Show | 5 | 310 | 0.0161 | 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 | a0001c0001t0019g0027a0001c0001t0020g0243 | 3 | 310 | 0.0097 | 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 | a0001c0001t0003g0100 | 1 | 310 | 0.0032 | 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 | a0001c0001t0002g0091a0001c0001t0002g0093a0001c0001t0003g0094others(2): Show | 5 | 310 | 0.0161 | 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 | a0001c0005t0001g0091a0002c0004t0001g0035a0002c0004t0001g0044others(14): Show | 17 | 402 | 0.0423 | 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 | a0001c0005t0001g0012a0001c0005t0001g0013a0006c0016t0001g0010 | 3 | 402 | 0.0075 | 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 | a0001c0001t0001g0317 | 1 | 402 | 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 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0385others(1): Show | 4 | 402 | 0.0100 | 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 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0325others(33): Show | 38 | 402 | 0.0945 | 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 |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0001a0001c0001t0014a0008c0017t0001 | a0001c0001t0001g0072a0001c0001t0001g0091a0001c0001t0001g0149others(4): Show | 7 | 203 | 0.0345 | 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 | a0001c0005t0009g0191 | 1 | 203 | 0.0049 | 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 | a0001c0003t0001g0228 | 1 | 257 | 0.0039 | 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 | a0001c0001t0001g0007 | 1 | 257 | 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 | a0001c0001t0120a0001c0001t0142a0001c0002t0011others(6): Show | a0001c0001t0120g0252a0001c0001t0142g0248a0001c0002t0011g0242others(8): Show | 11 | 296 | 0.0372 | 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 | a0001c0001t0165 | a0001c0001t0165g0200 | 1 | 319 | 0.0031 | 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(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0036a0001c0001t0094a0001c0001t0183others(5): Show | a0001c0001t0036g0003a0001c0001t0094g0240a0001c0001t0183g0211others(5): Show | 9 | 319 | 0.0282 | 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 | 436 | 0.0023 | 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 | a0001c0001t0001g0354 | 1 | 436 | 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 | 360 | 0.0028 | 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 | a0001c0001t0013g0244 | 1 | 360 | 0.0028 | 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 | 298 | 0.0034 | 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 | a0001c0001t0002g0119a0001c0001t0002g0123a0001c0001t0002g0190others(19): Show | 22 | 368 | 0.0598 | 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 | a0001c0001t0008g0152 | 1 | 226 | 0.0044 | 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 |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0004a0001c0001t0006a0001c0004t0006others(1): Show | a0001c0001t0004g0020a0001c0001t0004g0023a0001c0001t0004g0099others(15): Show | 22 | 226 | 0.0974 | 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 | a0001c0001t0008g0151 | 1 | 226 | 0.0044 | 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 | a0001c0002t0001g0142 | 1 | 342 | 0.0029 | 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 | a0001c0001t0002g0087 | 1 | 342 | 0.0029 | 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 | a0001c0001t0001g0091 | 1 | 342 | 0.0029 | 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 | 366 | 0.0027 | 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 | a0001c0001t0002g0195a0001c0001t0003g0191a0001c0001t0003g0192others(2): Show | 5 | 366 | 0.0137 | 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 | 324 | 0.0062 | 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 | a0001c0002t0001g0041a0001c0002t0001g0302a0001c0002t0001g0315others(5): Show | 8 | 396 | 0.0202 | 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 | a0001c0003t0001g0309 | 1 | 396 | 0.0025 | 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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(6): Show | 9 | 276 | 0.0326 | 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 | a0001c0001t0001g0061 | 1 | 276 | 0.0036 | 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 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0036others(44): Show | 48 | 276 | 0.1739 | 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 |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(90): Show | 130 | 321 | 0.4050 | 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 | a0001c0001t0011 | a0001c0001t0011g0182 | 1 | 321 | 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 | a0001c0006t0052 | a0001c0006t0052g0025 | 1 | 321 | 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 | 456 | 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 | 442 | 0.0045 | 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 | 432 | 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 | 390 | 0.0026 | 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 | a0001c0011t0017 | a0001c0011t0017g0224 | 1 | 390 | 0.0026 | 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 | a0002c0003t0001g0212a0002c0003t0001g0223 | 2 | 390 | 0.0051 | 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 | a0001c0001t0001g0008a0001c0001t0001g0290 | 2 | 432 | 0.0046 | 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 | 432 | 0.0023 | 14 | c.*60 others(25): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4925 | chr5 | TogoVar |