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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEST4_chr1_44778585_44793170 | 44789258 | AGAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(47): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0015 others(2): Show |
50 | 363 | 0.1377 | -6 | c.-15 others(17): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 1089 | chr1 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44789268 | GAAAGAA | G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 |
4 | 388 | 0.0103 | -6 | c.-15 others(17): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 1099 | chr1 | TogoVar | |||||||
BET1L_chr11_197924_212399 | 204523 | CATTTCT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(41): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0015a0001c0003t0004 | a0001c0001t0004g0004 a0001c0001t0015g0019 a0001c0003t0004g0058 |
44 | 400 | 0.1100 | -6 | c.*77 others(15): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 4/4 | 773 | chr11 | TogoVar | ||||||
BET1L_chr11_197924_212399 | 205757 | AACTCTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 others(15): Show |
114 | 400 | 0.2850 | -6 | c.112 others(19): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103059972 | ATCTCTC | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02293.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(1): Show |
4 | 308 | 0.0130 | -6 | c.*29 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2678 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060014 | CTCTATA | C | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18944.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0003 |
3 | 281 | 0.0107 | -6 | c.*28 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2636 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | CTATATA | C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02083.hp1 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(1): Show |
9 | 248 | 0.0363 | -6 | c.*28 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103061969 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
36 | 336 | 0.1071 | -6 | c.*92 others(15): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 681 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103065765 | CTCTTCT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(3): Show |
54 | 334 | 0.1617 | -6 | c.-17 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1595 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066003 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(2): Show |
15 | 220 | 0.0682 | -6 | c.-20 others(17): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1833 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309250 | GTGTATA | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004 others(3): Show |
42 | 247 | 0.1700 | -6 | c.*33 others(15): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309252 | GTATATA | G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01175.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0004g0007 a0004c0006t0001g0013 |
15 | 160 | 0.0938 | -6 | c.*33 others(15): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 93 | chrX | TogoVar | |||||||
BEX4_chrX_103210108_103222246 | 103212998 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0003 |
9 | 72 | 0.1250 | -6 | c.-23 others(17): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2109 | chrX | TogoVar | |||||||
BEX4_chrX_103210108_103222246 | 103215564 | GAGGGCC | G | intron_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG01496.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0008g0005 |
33 | 332 | 0.0994 | -6 | c.-88 others(19): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102153606 | CATATAT | C | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
4 | 26 | 0.1538 | -6 | c.*31 others(15): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02723.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0003g0006 |
4 | 288 | 0.0139 | -6 | c.-24 others(17): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158153 | CTTATTA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01192.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
9 | 191 | 0.0471 | -6 | c.-24 others(17): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | |||||||
BFAR_chr16_14627951_14674236 | 14654493 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(63): Show |
a0002a0005 | a0002c0002a0002c0009a0005c0005 | a0002c0002t0001a0002c0002t0007a0002c0009t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 others(47): Show |
66 | 278 | 0.2374 | -6 | c.639 others(21): Show |
BFAR | ENSG00000103429.11 | transcript | ENST00000261658.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17497588 | ATATACG | A | intron_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02055.hp2 others(7): Show |
a0001a0003a0009others(1): Show | a0001c0003a0003c0007a0009c0019others(1): Show | a0001c0003t0001a0003c0007t0002a0009c0019t0002others(1): Show | a0001c0003t0001g0132 a0001c0003t0001g0146 a0003c0007t0002g0015 others(6): Show |
10 | 393 | 0.0254 | -6 | c.957 others(21): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17507268 | GGTAGGT | G | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
a0002a0004 | a0002c0001a0004c0010 | a0002c0001t0002a0004c0010t0001 | a0002c0001t0002g0065 a0002c0001t0002g0302 a0002c0001t0002g0303 others(1): Show |
4 | 394 | 0.0102 | -6 | c.735 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17518266 | AGAATAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0004 | a0001c0002t0001g0070 a0001c0003t0001g0129 a0001c0005t0004g0002 |
5 | 394 | 0.0127 | -6 | c.439 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425762 | GATGGGA | G | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 others(13): Show |
16 | 272 | 0.0588 | -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 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0069 others(10): Show |
13 | 42 | 0.3095 | -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 | 133449949 | AAGAGAG | A | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG01258.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0026 others(20): Show |
23 | 269 | 0.0855 | -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 | 153509057 | CTTTCTG | C | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG03453.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0018a0001c0003t0031 | a0001c0003t0018g0023 a0001c0003t0031g0060 |
3 | 285 | 0.0105 | -6 | c.*61 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 614 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509061 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0030 others(10): Show |
15 | 134 | 0.1119 | -6 | c.*65 others(15): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 656 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153512836 | ACACACT | A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0020 a0001c0003t0001g0061 a0001c0003t0001g0177 others(1): Show |
5 | 319 | 0.0157 | -6 | c.*43 others(17): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3291 | chrX | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275491 | TGTGTGA | T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0000 a0001c0002t0004g0000 |
5 | 436 | 0.0115 | -6 | c.*42 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3677 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275804 | TGTGTGA | T | downstream_gene_variant | MODIFIER | HG02683.hp1 HG02970.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0000 a0001c0002t0008g0000 |
3 | 439 | 0.0068 | -6 | c.*45 others(17): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3990 | chr17 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64588187 | ACATAAC | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0003c0003t0002a0008c0009t0001 | a0003c0003t0001g0000 a0003c0003t0002g0000 a0008c0009t0001g0000 |
14 | 430 | 0.0326 | -6 | c.*62 others(17): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 4561 | chr8 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4981185 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(8): Show | a0001c0001t0001g0004 a0001c0001t0006g0005 a0001c0001t0013g0024 others(8): Show |
14 | 27 | 0.5185 | -6 | c.259 others(21): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4983829 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 7 | 115 | 0.0609 | -6 | c.*15 others(15): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 158 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79088358 | CTGTGTG | C | intron_variant | MODIFIER | HG02074.hp1 HG02257.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 others(1): Show |
4 | 91 | 0.0440 | -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 | 79136976 | GTATATA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(112): Show |
135 | 402 | 0.3358 | -6 | c.*58 others(17): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4689 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58562981 | TATAGGG | T | intron_variant | MODIFIER | HG00639.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004 | a0001c0001t0005g0014 a0002c0002t0004g0015 |
2 | 130 | 0.0154 | -6 | c.190 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58583584 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01261.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0002g0020 a0001c0001t0007g0122 a0001c0001t0012g0004 others(11): Show |
14 | 32 | 0.4375 | -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 | 58584055 | AACACAC | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0108 others(45): Show |
48 | 49 | 0.9796 | -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 | 58601139 | CTTATAT | C | intron_variant | MODIFIER | HG04115.hp2 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0055 a0002c0002t0005g0023 |
2 | 124 | 0.0161 | -6 | c.191 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58639719 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0011a0001c0001t0027a0002c0002t0004others(3): Show | a0001c0001t0011g0077 a0001c0001t0027g0038 a0002c0002t0004g0015 others(3): Show |
6 | 9 | 0.6667 | -6 | c.237 others(25): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58692708 | GTCATAC | G | intron_variant | MODIFIER | HG01167.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0002a0001c0001t0027a0002c0002t0009others(1): Show | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0027g0038 others(2): Show |
5 | 130 | 0.0385 | -6 | c.238 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58764035 | AAGGTAC | A | intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004 | a0001c0001t0006g0085 a0002c0002t0004g0033 |
2 | 130 | 0.0154 | -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 | 58769372 | ATGTATG | A | intron_variant | MODIFIER | HG01261.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0081 a0001c0001t0048g0076 |
2 | 130 | 0.0154 | -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 | 58794165 | TTGTGTG | T | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG03209.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0006a0002c0008others(1): Show | a0002c0002t0010a0002c0006t0038a0002c0008t0044others(1): Show | a0002c0002t0010g0123 a0002c0006t0038g0110 a0002c0008t0044g0117 others(1): Show |
4 | 56 | 0.0714 | -6 | c.117 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58816745 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0081 others(47): Show |
50 | 57 | 0.8772 | -6 | c.253 others(23): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58831507 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0029a0004c0005t0033others(1): Show | a0002c0003t0004g0042 a0004c0005t0029g0009 a0004c0005t0033g0043 others(1): Show |
4 | 23 | 0.1739 | -6 | c.*26 others(17): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 73 | chr10 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32117731 | CACACAT | C | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01943.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(39): Show |
42 | 286 | 0.1469 | -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 | 32117754 | ATATATT | A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0005a0001c0002t0007 | a0001c0001t0016g0152 a0001c0002t0005g0165 a0001c0002t0007g0164 |
3 | 280 | 0.0107 | -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 | 32120891 | GAGAGAA | G | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01167.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0255 a0001c0001t0004g0019 a0001c0001t0004g0151 others(53): Show |
56 | 288 | 0.1944 | -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 | 32121591 | CAAAAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(199): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 others(199): Show |
202 | 288 | 0.7014 | -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 | CGTGTGT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0004g0149 a0001c0001t0010g0156 a0001c0001t0012g0233 others(2): Show |
5 | 61 | 0.0820 | -6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |