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 | 103063468 | C | CCCA | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 10 | 339 | 0.0295 | 3 | c.-6+ others(16): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2/2 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103063476 | C | CCCA | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 339 | 0.0030 | 3 | c.-6+ others(16): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2/2 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066059 | A | ATAT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03139.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0024 |
3 | 339 | 0.0089 | 3 | c.-20 others(14): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1889 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066059 | A | ATTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01261.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 others(2): Show |
11 | 339 | 0.0325 | 3 | c.-20 others(14): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1889 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066060 | T | TATA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 339 | 0.0059 | 3 | c.-20 others(14): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1890 | chrX | TogoVar | |||||||
BEX3_chrX_103371538_103383164 | 103375602 | C | CTTT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
6 | 298 | 0.0201 | 3 | c.-11 others(14): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 935 | chrX | TogoVar | |||||||
BEX4_chrX_103210108_103222246 | 103212327 | C | CTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 334 | 0.0030 | 3 | c.-30 others(14): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2780 | chrX | TogoVar | |||||||
BEX4_chrX_103210108_103222246 | 103219862 | C | CAAA | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 334 | 0.0030 | 3 | c.*33 others(14): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2617 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153648 | T | TATA | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 324 | 0.0031 | 3 | c.*28 others(12): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 63 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158102 | T | TTTC | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 324 | 0.0031 | 3 | c.-23 others(14): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2126 | chrX | TogoVar | |||||||
BFAR_chr16_14627951_14674236 | 14658403 | A | AGAT | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01123.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0171 a0002c0002t0001g0228 others(1): Show |
7 | 317 | 0.0221 | 3 | c.783 others(20): Show |
BFAR | ENSG00000103429.11 | transcript | ENST00000261658.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BFAR_chr16_14627951_14674236 | 14667177 | A | AAAT | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(30): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0002c0002t0001a0008c0009t0001 | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0031 others(28): Show |
33 | 317 | 0.1041 | 3 | c.116 others(20): Show |
BFAR | ENSG00000103429.11 | transcript | ENST00000261658.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17506525 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01346.hp1 others(13): Show |
a0001a0002a0007 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0003a0001c0004t0002others(3): Show | a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0088 others(12): Show |
16 | 396 | 0.0404 | 3 | c.735 others(20): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17522763 | T | TAGA | intron_variant | MODIFIER | HG00609.hp1 HG02155.hp1 NA18962.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0316 a0002c0001t0002g0322 a0002c0001t0002g0354 |
3 | 396 | 0.0076 | 3 | c.438 others(20): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17526141 | C | CGGG | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01258.hp1 others(33): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(10): Show | a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 others(32): Show |
36 | 396 | 0.0909 | 3 | c.378 others(20): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133417524 | C | CCCA | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00639.hp1 others(126): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(124): Show |
129 | 276 | 0.4674 | 3 | c.489 others(22): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133422105 | C | CAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(19): Show |
23 | 276 | 0.0833 | 3 | c.489 others(22): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425971 | G | GGGA | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02258.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0023 others(20): Show |
23 | 276 | 0.0833 | 3 | c.490 others(22): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133436325 | C | CAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01069.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 others(25): Show |
29 | 276 | 0.1051 | 3 | c.490 others(22): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AAGG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(41): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(39): Show |
44 | 276 | 0.1594 | 3 | c.730 others(18): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGLAP_chr1_156237184_156248317 | 156237289 | C | CAGT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(214): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0003g0001 others(6): Show |
217 | 400 | 0.5425 | 3 | c.-49 others(14): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 4894 | chr1 | TogoVar | |||||||
BGN_chrX_153489980_153514546 | 153513252 | T | TGGG | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0009 | 1 | 321 | 0.0031 | 3 | c.*48 others(14): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3707 | chrX | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64581060 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG01167.hp1 HG01175.hp1 HG01884.hp2 others(23): Show |
a0004a0005a0007others(1): Show | a0004c0004a0005c0005a0007c0007others(1): Show | a0004c0004t0003a0004c0004t0016a0005c0005t0004others(2): Show | a0004c0004t0003g0000 a0004c0004t0016g0000 a0005c0005t0004g0000 others(2): Show |
26 | 432 | 0.0602 | 3 | c.288 others(10): Show |
p.Gly others(5): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 717/3263 | 291/1146 | 97/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE22_chr8_64575365_64588627 | 64581463 | G | GGCA | disruptive_inframe_insertion | MODERATE | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(31): Show |
a0003a0011a0016others(1): Show | a0003c0003a0003c0008a0003c0020others(3): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(7): Show | a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 others(7): Show |
34 | 432 | 0.0787 | 3 | c.701 others(10): Show |
p.Ser others(6): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1130/3263 | 704/1146 | 235/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE23_chr20_63000927_63011964 | 63006440 | C | CGCG | conservative_inframe_insertion | MODERATE | HG02886.hp2 NA18939.hp1 NA18992.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 3 | 446 | 0.0067 | 3 | c.332 others(10): Show |
p.Pro others(6): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 1/1 | 524/1038 | 334/726 | 112/241 | chr20 | TogoVar | |||
BHLHE23_chr20_63000927_63011964 | 63010755 | C | CTTT | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01515.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0000 a0003c0004t0001g0000 |
23 | 446 | 0.0516 | 3 | c.-39 others(14): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 3792 | chr20 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00642.hp2 others(31): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(12): Show |
34 | 436 | 0.0780 | 3 | c.*46 others(14): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGGG | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 others(6): Show |
27 | 436 | 0.0619 | 3 | c.*46 others(14): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | |||||||
BHMT2_chr5_79064767_79095069 | 79072965 | C | CTTT | intron_variant | MODIFIER | HG03831.hp2 HG04184.hp2 HG04228.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008 | a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0097 others(6): Show |
12 | 390 | 0.0308 | 3 | c.33+ others(18): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79092384 | T | TGTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(165): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0074 others(105): Show |
168 | 390 | 0.4308 | 3 | c.*38 others(14): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 2316 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79128528 | T | TAAA | intron_variant | MODIFIER | HG01168.hp2 HG01515.hp1 HG02738.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0127 a0001c0001t0001g0181 a0001c0001t0001g0193 others(17): Show |
20 | 432 | 0.0463 | 3 | c.103 others(20): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79128529 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0044 others(8): Show |
21 | 432 | 0.0486 | 3 | c.103 others(20): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79134187 | G | GTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(166): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(122): Show |
169 | 432 | 0.3912 | 3 | c.*30 others(14): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 1900 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58542150 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0007a0001c0001t0038a0002c0002t0011others(3): Show | a0001c0001t0007g0095 a0001c0001t0038g0113 a0002c0002t0011g0091 others(3): Show |
6 | 132 | 0.0455 | 3 | c.190 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58555306 | A | ATTT | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02895.hp2 others(1): Show |
a0001a0004a0007 | a0001c0001a0004c0005a0007c0009 | a0001c0001t0002a0004c0005t0030a0007c0009t0031 | a0001c0001t0002g0011 a0001c0001t0002g0013 a0004c0005t0030g0009 others(1): Show |
4 | 132 | 0.0303 | 3 | c.190 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58557344 | C | CTTT | 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 | 3 | c.190 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58636581 | T | TCTC | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0024a0002c0003t0023 | a0001c0001t0024g0022 a0002c0003t0023g0023 |
2 | 132 | 0.0152 | 3 | c.237 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58658025 | G | GTGT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(125): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 others(125): Show |
128 | 132 | 0.9697 | 3 | c.237 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58703306 | G | GCGC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(110): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 others(110): Show |
113 | 132 | 0.8561 | 3 | c.307 others(20): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58703306 | G | GTGC | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0040a0001c0001t0042a0002c0003t0026 | a0001c0001t0040g0126 a0001c0001t0042g0130 a0002c0003t0026g0047 |
3 | 132 | 0.0227 | 3 | c.307 others(20): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58708002 | A | ATTT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0094 others(40): Show |
43 | 132 | 0.3258 | 3 | c.307 others(20): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58724053 | C | CTAA | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02886.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0002c0002t0018others(2): Show | a0001c0001t0002g0008 a0001c0001t0022g0001 a0002c0002t0018g0131 others(3): Show |
6 | 132 | 0.0455 | 3 | c.307 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58728704 | A | AAAT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0081 others(57): Show |
60 | 132 | 0.4546 | 3 | c.307 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58736388 | C | CATA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 others(127): Show |
130 | 132 | 0.9849 | 3 | c.307 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58745602 | G | GCCC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00741.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0013 others(16): Show |
19 | 132 | 0.1439 | 3 | c.308 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58808075 | C | CTTT | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02886.hp2 others(3): Show |
a0002a0004a0007 | a0002c0003a0004c0005a0007c0009 | a0002c0003t0004a0002c0003t0015a0004c0005t0030others(3): Show | a0002c0003t0004g0052 a0002c0003t0015g0018 a0004c0005t0030g0009 others(3): Show |
6 | 132 | 0.0455 | 3 | c.237 others(20): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58812204 | A | ATGT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(128): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 others(128): Show |
131 | 132 | 0.9924 | 3 | c.237 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58831507 | A | ATTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0002g0034 others(12): Show |
15 | 132 | 0.1136 | 3 | c.*26 others(14): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 73 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58832107 | A | AAAT | downstream_gene_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0002 | a0002c0003 | a0002c0003t0032a0002c0003t0043 | a0002c0003t0032g0049 a0002c0003t0043g0114 |
2 | 132 | 0.0152 | 3 | c.*32 others(14): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 673 | chr10 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32102752 | A | ATTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 others(93): Show |
96 | 290 | 0.3310 | 3 | c.-45 others(14): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 4094 | chr12 | TogoVar |