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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEND2_chrX_18157931_18225886 | 18190766 | T | TCACACA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0207 a0001c0001t0003g0002 a0001c0001t0003g0208 others(5): Show |
10 | 156 | 0.0641 | 6 | c.128 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18213748 | C | CTAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(76): Show |
a0002a0007 | a0002c0002a0002c0003a0007c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(4): Show | a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0132 others(75): Show |
79 | 293 | 0.2696 | 6 | c.376 others(19): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3/13 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | G | GTATATA | intron_variant | MODIFIER | HG02300.hp2 HG03491.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0245 a0001c0001t0005g0322 a0001c0002t0001g0066 others(3): Show |
6 | 228 | 0.0263 | 6 | c.241 others(23): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42115360 | T | TGGAGCA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0030 | a0002c0002t0017g0024 a0002c0002t0030g0132 |
3 | 224 | 0.0134 | 6 | c.*21 others(17): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 6/6 | 2157 | chr4 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48762656 | G | GTGTGTA | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01167.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0074 a0001c0001t0001g0078 others(19): Show |
24 | 121 | 0.1983 | 6 | c.227 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769526 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 others(41): Show |
50 | 150 | 0.3333 | 6 | c.226 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND6_chr6_56950107_57032346 | 56965676 | T | TTATATA | intron_variant | MODIFIER | HG02976.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0134 a0001c0001t0002g0125 |
2 | 93 | 0.0215 | 6 | c.-10 others(27): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13473562 | T | TAGACTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(202): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(186): Show |
205 | 298 | 0.6879 | 6 | c.106 others(25): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13493351 | A | ATCATTT | intron_variant | MODIFIER | HG02602.hp1 HG03704.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 others(2): Show |
5 | 298 | 0.0168 | 6 | c.572 others(21): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13514090 | T | TTTCAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(270): Show |
297 | 298 | 0.9966 | 6 | c.145 others(25): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61958903 | C | CACACAT | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0012 a0001c0004t0001g0012 |
5 | 373 | 0.0134 | 6 | c.868 others(21): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST2_chr19_12746791_12763458 | 12747154 | T | TTTAAGG | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02055.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0016a0003c0009others(1): Show | a0001c0001t0001a0001c0016t0001a0003c0009t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0037 others(9): Show |
22 | 388 | 0.0567 | 6 | c.-47 others(17): Show |
BEST2 | ENSG00000039987.7 | transcript | ENST00000553030.6 | protein_coding | 4636 | chr19 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTT | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02055.hp2 others(11): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0001c0001t0003a0005c0013t0001 | a0001c0001t0002g0195 a0001c0001t0003g0031 a0001c0001t0003g0055 others(10): Show |
14 | 144 | 0.0972 | 6 | c.482 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103065997 | T | TTATATA | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01496.hp1 NA18975.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
10 | 312 | 0.0321 | 6 | c.-19 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1827 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTATA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
9 | 98 | 0.0918 | 6 | c.-20 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX4_chrX_103210108_103222246 | 103212998 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0005g0001 |
8 | 71 | 0.1127 | 6 | c.-23 others(17): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2109 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATAT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG03239.hp2 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
8 | 30 | 0.2667 | 6 | c.*32 others(15): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497453 | T | TATACAC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0002a0001c0008a0001c0017 | a0001c0002t0001a0001c0008t0001a0001c0017t0001 | a0001c0002t0001g0044 a0001c0002t0001g0063 a0001c0002t0001g0064 others(49): Show |
53 | 393 | 0.1349 | 6 | c.957 others(21): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497457 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(205): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0015a0001c0026others(12): Show | a0001c0003t0001a0001c0003t0003a0001c0015t0001others(13): Show | a0001c0003t0001g0005 a0001c0003t0001g0035 a0001c0003t0001g0043 others(192): Show |
208 | 300 | 0.6933 | 6 | c.957 others(21): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17504910 | T | TTTTTTG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(91): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0103 a0001c0002t0001g0120 a0001c0002t0001g0153 others(83): Show |
94 | 328 | 0.2866 | 6 | c.735 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17507272 | G | GGTGTGT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0002t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0085 others(13): Show |
18 | 270 | 0.0667 | 6 | c.735 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG01952.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0002t0001g0030 a0001c0002t0001g0061 a0001c0002t0001g0062 others(10): Show |
13 | 164 | 0.0793 | 6 | c.377 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133409227 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(81): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0041 others(79): Show |
84 | 102 | 0.8235 | 6 | c.489 others(23): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424216 | T | TTGTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070 a0001c0001t0001g0157 a0001c0002t0001g0063 others(2): Show |
5 | 228 | 0.0219 | 6 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424220 | T | TTGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01517.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0005c0005t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0210 others(8): Show |
11 | 158 | 0.0696 | 6 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424222 | T | TTGTGTG | intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 NA18947.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052 a0001c0001t0001g0205 a0001c0001t0001g0209 others(7): Show |
10 | 91 | 0.1099 | 6 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTTTATA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03669.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0111 a0001c0002t0001g0211 a0002c0003t0001g0003 |
4 | 33 | 0.1212 | 6 | c.490 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449405 | C | CTTTGTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(31): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0002c0003t0001a0004c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(31): Show |
34 | 274 | 0.1241 | 6 | c.729 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449963 | G | GAAGGAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0043 others(1): Show |
4 | 258 | 0.0155 | 6 | c.730 others(21): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153509055 | C | CTTTCTG | 3_prime_UTR_variant | MODIFIER | HG02129.hp1 HG02451.hp2 HG03486.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0054others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0102 a0001c0003t0001g0061 others(9): Show |
16 | 299 | 0.0535 | 6 | c.*61 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 612 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHLHA9_chr17_1265444_1276815 | 1275584 | T | TGTGTGG | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0002 | a0001c0003t0006g0000 a0001c0005t0002g0000 |
4 | 438 | 0.0091 | 6 | c.*43 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3770 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275765 | C | CTGAGTG | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0002 | a0001c0003t0006g0000 a0001c0005t0002g0000 |
4 | 439 | 0.0091 | 6 | c.*44 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3951 | chr17 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64581450 | T | TAGCGGC | conservative_inframe_insertion | MODERATE | HG01167.hp1 HG01175.hp1 HG01884.hp2 others(8): Show |
a0005a0007 | a0005c0005a0007c0007 | a0005c0005t0004a0007c0007t0004 | a0005c0005t0004g0000 a0007c0007t0004g0000 |
11 | 430 | 0.0256 | 6 | c.667 others(13): Show |
p.Ser others(13): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1099/3263 | 673/1146 | 225/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE22_chr8_64575365_64588627 | 64581463 | G | GGCAGCA | disruptive_inframe_insertion | MODERATE | HG01243.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0001a0008c0009t0002 | a0008c0009t0001g0000 a0008c0009t0002g0000 |
4 | 391 | 0.0102 | 6 | c.698 others(13): Show |
p.Ser others(13): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1130/3263 | 704/1146 | 235/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE40_chr3_4974437_4990323 | 4983829 | G | GGTGTGT | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01167.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0018others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(6): Show |
46 | 154 | 0.2987 | 6 | c.*15 others(15): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4983850 | G | GTGTGTA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp2 others(50): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0012a0001c0002t0021others(2): Show | a0001c0002t0002g0004 a0001c0002t0002g0017 a0001c0002t0002g0028 others(7): Show |
53 | 405 | 0.1309 | 6 | c.*16 others(15): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 169 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCGGGG | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
24 | 245 | 0.0980 | 6 | c.*46 others(17): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | |||||||
BHMT2_chr5_79064767_79095069 | 79088358 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0002t0001g0038 others(31): Show |
48 | 135 | 0.3556 | 6 | c.101 others(22): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137009 | C | CATATAT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0090 a0001c0001t0001g0093 others(1): Show |
8 | 395 | 0.0203 | 6 | c.*58 others(17): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4722 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58525702 | T | TAAAATA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(40): Show |
43 | 115 | 0.3739 | 6 | c.190 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58525702 | T | TAAAGTA | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02258.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0037a0001c0001t0039a0001c0001t0041others(8): Show | a0001c0001t0037g0113 a0001c0001t0039g0126 a0001c0001t0041g0130 others(12): Show |
15 | 87 | 0.1724 | 6 | c.190 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58535396 | A | AAACCTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(62): Show |
65 | 130 | 0.5000 | 6 | c.190 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58599929 | G | GGTGTGT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02523.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(7): Show | a0001c0001t0001g0074 a0001c0001t0007g0071 a0001c0001t0011g0070 others(9): Show |
12 | 39 | 0.3077 | 6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TTATATA | intron_variant | MODIFIER | HG02895.hp2 NA19240.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0007c0009t0030 | a0001c0001t0002g0011 a0007c0009t0030g0012 |
2 | 18 | 0.1111 | 6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58708002 | A | ATTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0081 others(56): Show |
59 | 61 | 0.9672 | 6 | c.307 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58718742 | A | ATGTGTG | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0108 others(26): Show |
29 | 75 | 0.3867 | 6 | c.307 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58718765 | T | TGTGTGC | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03130.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0009a0003c0004t0024a0003c0004t0046 | a0002c0003t0009g0120 a0003c0004t0024g0056 a0003c0004t0046g0119 |
3 | 127 | 0.0236 | 6 | c.307 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58754760 | A | ATGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02451.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0011a0002c0002t0004others(2): Show | a0001c0001t0002g0008 a0001c0001t0011g0070 a0002c0002t0004g0093 others(2): Show |
5 | 61 | 0.0820 | 6 | c.308 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58769404 | G | GTGTGTA | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02896.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0021a0001c0001t0045others(1): Show | a0001c0001t0003g0049 a0001c0001t0021g0035 a0001c0001t0045g0090 others(1): Show |
4 | 65 | 0.0615 | 6 | c.308 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58816745 | C | CTGTGTG | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0013a0002c0003t0004a0002c0003t0015 | a0002c0002t0013g0128 a0002c0003t0004g0042 a0002c0003t0015g0054 |
3 | 10 | 0.3000 | 6 | c.253 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |