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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTATA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show |
9 | 339 | 0.0266 | 6 | c.-20 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTGTA | upstream_gene_variant | MODIFIER | HG01169.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 |
2 | 339 | 0.0059 | 6 | c.-20 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309250 | G | GTATGTA | downstream_gene_variant | MODIFIER | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 308 | 0.0033 | 6 | c.*33 others(15): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | |||||||
BEX3_chrX_103371538_103383164 | 103372901 | C | CAAATCA | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 298 | 0.0034 | 6 | c.-38 others(17): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 3636 | chrX | TogoVar | |||||||
BEX3_chrX_103371538_103383164 | 103375602 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 298 | 0.0034 | 6 | c.-11 others(17): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 935 | 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 | 334 | 0.0240 | 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 | 324 | 0.0247 | 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 | a0001c0002t0001g0041 a0001c0002t0001g0060 a0001c0002t0001g0061 others(50): Show |
53 | 396 | 0.1338 | 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(206): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0015a0002c0001others(12): Show | a0001c0003t0001a0001c0003t0003a0001c0015t0001others(13): Show | a0001c0003t0001g0005 a0001c0003t0001g0032 a0001c0003t0001g0040 others(194): Show |
209 | 396 | 0.5278 | 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(92): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0097 a0001c0002t0001g0111 a0001c0002t0001g0153 others(84): Show |
95 | 396 | 0.2399 | 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 | a0001c0002t0001g0067 a0001c0003t0001g0071 a0001c0003t0001g0082 others(13): Show |
18 | 396 | 0.0455 | 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 | a0001c0002t0001g0027 a0001c0002t0001g0058 a0001c0002t0001g0059 others(10): Show |
13 | 396 | 0.0328 | 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(82): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0040 others(80): Show |
85 | 276 | 0.3080 | 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 | a0001c0001t0001g0069 a0001c0001t0001g0157 a0001c0002t0001g0062 others(2): Show |
5 | 276 | 0.0181 | 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 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0204 others(8): Show |
11 | 276 | 0.0399 | 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 | a0001c0001t0001g0051 a0001c0001t0001g0195 a0001c0001t0001g0198 others(7): Show |
10 | 276 | 0.0362 | 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 a0001c0002t0001g0205 a0002c0003t0001g0003 |
4 | 276 | 0.0145 | 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 | 276 | 0.1232 | 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 a0001c0001t0001g0042 others(1): Show |
4 | 276 | 0.0145 | 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 | a0001c0001t0008a0001c0003t0008a0001c0003t0091others(3): Show | a0001c0001t0008g0020 a0001c0001t0008g0108 a0001c0003t0008g0068 others(11): Show |
16 | 321 | 0.0498 | 6 | c.*61 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 612 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509061 | C | CTCTCTT | 3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0013 | 1 | 321 | 0.0031 | 6 | c.*61 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 618 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509061 | C | CTGTGTG | 3_prime_UTR_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0203 | 1 | 321 | 0.0031 | 6 | c.*65 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 662 | 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 | 442 | 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 | 442 | 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 | 432 | 0.0255 | 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 | 432 | 0.0093 | 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(44): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0018others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(7): Show |
47 | 436 | 0.1078 | 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 | a0001c0002a0003c0009 | a0001c0002t0002a0001c0002t0012a0001c0002t0021others(2): Show | a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0025 others(8): Show |
53 | 436 | 0.1216 | 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(7): Show |
24 | 436 | 0.0551 | 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 | 390 | 0.1231 | 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 | 432 | 0.0185 | 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 a0001c0001t0001g0073 a0001c0001t0001g0075 others(40): Show |
43 | 132 | 0.3258 | 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 | a0001c0001t0038a0001c0001t0040a0001c0001t0042others(8): Show | a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 others(12): Show |
15 | 132 | 0.1136 | 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 a0001c0001t0001g0073 a0001c0001t0001g0075 others(62): Show |
65 | 132 | 0.4924 | 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 | a0001c0001t0001g0075 a0001c0001t0007g0071 a0001c0001t0011g0070 others(9): Show |
12 | 132 | 0.0909 | 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 | a0001c0001t0002a0007c0009t0031 | a0001c0001t0002g0011 a0007c0009t0031g0012 |
2 | 132 | 0.0152 | 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(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0081 others(57): Show |
60 | 132 | 0.4546 | 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 | a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0108 others(26): Show |
29 | 132 | 0.2197 | 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 | a0002c0003t0009a0003c0004t0025a0003c0004t0047 | a0002c0003t0009g0117 a0003c0004t0025g0021 a0003c0004t0047g0120 |
3 | 132 | 0.0227 | 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 | 132 | 0.0379 | 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 | a0001c0001t0003a0001c0001t0021a0001c0001t0046others(1): Show | a0001c0001t0003g0059 a0001c0001t0021g0045 a0001c0001t0046g0090 others(1): Show |
4 | 132 | 0.0303 | 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 a0002c0003t0004g0052 a0002c0003t0015g0018 |
3 | 132 | 0.0227 | 6 | c.253 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02027.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0147 a0001c0001t0004g0134 a0001c0001t0006g0036 others(13): Show |
16 | 290 | 0.0552 | 6 | c.-19 others(17): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32116502 | C | CTATATA | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0034a0001c0002t0005others(1): Show | a0001c0001t0008g0129 a0001c0001t0034g0128 a0001c0002t0005g0116 others(2): Show |
5 | 290 | 0.0172 | 6 | c.213 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116504 | C | CTATATA | intron_variant | MODIFIER | HG00639.hp1 HG02015.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0004others(2): Show | a0001c0001t0004g0132 a0001c0001t0007g0146 a0001c0002t0004g0117 others(3): Show |
6 | 290 | 0.0207 | 6 | c.213 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32117695 | T | TACACAA | intron_variant | MODIFIER | HG03041.hp2 NA18954.hp1 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0002t0005 | a0001c0001t0007g0250 a0001c0001t0008g0113 a0001c0002t0005g0126 |
3 | 290 | 0.0103 | 6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32117711 | T | TATACAC | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01167.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0004g0019 a0001c0001t0006g0021 a0001c0001t0006g0023 others(27): Show |
30 | 290 | 0.1035 | 6 | c.213 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32168007 | C | CGTGTGT | intron_variant | MODIFIER | NA18968.hp1 NA18998.hp2 NA19083.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0005a0001c0003t0052 | a0001c0002t0002g0282 a0001c0002t0005g0111 a0001c0003t0052g0286 |
3 | 290 | 0.0103 | 6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32171988 | C | CATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0284 a0001c0001t0004g0132 a0001c0001t0008g0123 others(13): Show |
16 | 290 | 0.0552 | 6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32182278 | C | CTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01346.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0044others(3): Show | a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 others(6): Show |
9 | 290 | 0.0310 | 6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |