regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEST3_chr12_69648609_69704303 | 69703916 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(66): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(63): Show | 69 | 366 | 0.1885 | -5 | c.-47 others(16): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4614 | chr12 | TogoVar | ||||||
BET1_chr7_93988245_94009355 | 93996967 | CTTAGT | C | intron_variant | MODIFIER | HG03017.hp1 HG03017.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 404 | 0.0074 | -5 | c.145 others(20): Show |
BET1 | ENSG00000105829.13 | transcript | ENST00000222547.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060017 | TATATA | T | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 339 | 0.0030 | -5 | c.*28 others(16): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2633 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103067482 | GATTAC | G | upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | -5 | c.-34 others(16): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 3312 | chrX | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103314265 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0033 | -5 | c.-34 others(16): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 3276 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103219878 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG02523.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 334 | 0.0060 | -5 | c.*33 others(16): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2633 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17527736 | TAATAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0002t0001g0011a0001c0002t0001g0070a0001c0002t0001g0159others(48): Show | 52 | 396 | 0.1313 | -5 | c.378 others(22): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425780 | AAAGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(163): Show | 169 | 276 | 0.6123 | -5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133426007 | AGGAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG02015.hp1 HG02129.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0083a0001c0001t0001g0127a0001c0001t0001g0199others(3): Show | 6 | 276 | 0.0217 | -5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153513672 | TGTGTC | T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0025 | 1 | 321 | 0.0031 | -5 | c.*52 others(16): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4127 | chrX | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275598 | TGTGTG | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0007others(1): Show | a0001c0002t0001g0000a0001c0002t0004g0000a0001c0002t0007g0000others(1): Show | 9 | 442 | 0.0204 | -5 | c.*43 others(16): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3784 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275711 | TGTGGG | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02486.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 15 | 442 | 0.0339 | -5 | c.*44 others(16): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3897 | chr17 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4975420 | ATTGAC | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(238): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(49): Show | 241 | 436 | 0.5528 | -5 | c.-42 others(16): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 4016 | chr3 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79124512 | TGAGAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0097a0001c0001t0001g0284others(4): Show | 8 | 432 | 0.0185 | -5 | c.626 others(22): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58516161 | TTAAAA | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03195.hp1 |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0014a0006c0010t0003 | a0003c0004t0014g0066a0003c0004t0014g0067a0006c0010t0003g0065 | 3 | 132 | 0.0227 | -5 | 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 | 58521768 | GTTTTT | G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03195.hp2 others(2): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0013a0002c0002t0018a0002c0003t0019others(1): Show | a0002c0002t0013g0128a0002c0002t0018g0124a0002c0003t0019g0115others(2): Show | 5 | 132 | 0.0379 | -5 | 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 | 58621903 | TTAGAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0089a0001c0001t0001g0107a0001c0001t0002g0011others(6): Show | 9 | 132 | 0.0682 | -5 | 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 | 58631994 | CCTAAG | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00735.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0068a0001c0001t0001g0083a0001c0001t0001g0089others(30): Show | 33 | 132 | 0.2500 | -5 | c.237 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58645406 | CAAAAA | C | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03209.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0005others(6): Show | a0001c0001t0001g0075a0001c0001t0003g0019a0001c0001t0003g0024others(8): Show | 11 | 132 | 0.0833 | -5 | c.237 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58667485 | GGAATT | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(128): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0075others(128): Show | 131 | 132 | 0.9924 | -5 | c.238 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58744686 | CCTTAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0068a0001c0001t0001g0075a0001c0001t0001g0081others(56): Show | 59 | 132 | 0.4470 | -5 | c.308 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58812463 | ATTTCT | A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0115a0002c0003t0019g0116 | 2 | 132 | 0.0152 | -5 | c.237 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58831507 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp1 others(4): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0014a0003c0004t0025a0003c0004t0035others(3): Show | a0003c0004t0014g0066a0003c0004t0014g0067a0003c0004t0025g0021others(4): Show | 7 | 132 | 0.0530 | -5 | c.*26 others(16): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 73 | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116979 | ATTATG | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0258a0001c0001t0001g0264a0001c0001t0001g0289others(73): Show | 76 | 290 | 0.2621 | -5 | c.213 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32120114 | ATTTAT | A | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0036a0001c0001t0055others(1): Show | a0001c0001t0017g0092a0001c0001t0017g0093a0001c0001t0036g0090others(2): Show | 5 | 290 | 0.0172 | -5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32135386 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0258a0001c0001t0001g0264a0001c0001t0001g0289others(53): Show | 56 | 290 | 0.1931 | -5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32142405 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0188a0001c0001t0001g0193a0001c0001t0003g0187others(10): Show | 13 | 290 | 0.0448 | -5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32225621 | GTTTTT | G | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0004g0287a0001c0001t0006g0155a0001c0001t0006g0165others(13): Show | 16 | 290 | 0.0552 | -5 | c.426 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32238944 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG01346.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(9): Show | a0001c0001t0006g0034a0001c0001t0006g0035a0001c0001t0006g0036others(14): Show | 17 | 290 | 0.0586 | -5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32239246 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(16): Show | a0001c0001t0004g0019a0001c0001t0004g0166a0001c0001t0006g0034others(28): Show | 31 | 290 | 0.1069 | -5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32252110 | ATATAT | A | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG01346.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0010a0001c0001t0024others(4): Show | a0001c0001t0008g0140a0001c0001t0010g0133a0001c0001t0024g0209others(5): Show | 8 | 290 | 0.0276 | -5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32296251 | TTTTTG | T | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01175.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0194a0001c0001t0001g0258a0001c0001t0003g0205others(12): Show | 15 | 290 | 0.0517 | -5 | c.579 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32350958 | GTTTAT | G | intron_variant | MODIFIER | HG01346.hp1 HG03492.hp2 HG03710.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0033a0001c0003t0042others(3): Show | a0001c0003t0013g0051a0001c0003t0013g0189a0001c0003t0013g0277others(5): Show | 8 | 290 | 0.0276 | -5 | c.276 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32383909 | CTGAAT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0002others(10): Show | a0001c0001t0002g0199a0001c0001t0020g0217a0001c0002t0002g0043others(59): Show | 62 | 290 | 0.2138 | -5 | c.*62 others(16): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 277 | chr12 | TogoVar | ||||||
BICD2_chr9_92706363_92769833 | 92757312 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 NA18949.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0260a0001c0001t0002g0261a0001c0001t0002g0262others(3): Show | 6 | 360 | 0.0167 | -5 | c.240 others(22): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120020188 | ACACAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(108): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0004a0001c0001t0002g0132a0001c0001t0002g0133others(106): Show | 111 | 296 | 0.3750 | -5 | c.645 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120021904 | CAAATA | C | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01175.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0026a0001c0002t0003others(3): Show | a0001c0001t0001g0287a0001c0001t0026g0286a0001c0002t0003g0226others(24): Show | 27 | 296 | 0.0912 | -5 | c.645 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120040089 | TTTTTC | T | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0026a0001c0006t0001 | a0001c0001t0001g0287a0001c0001t0026g0286a0001c0006t0001g0285 | 3 | 296 | 0.0101 | -5 | c.646 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120057818 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01069.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0128a0001c0001t0002g0004a0001c0001t0002g0132others(71): Show | 76 | 296 | 0.2568 | -5 | c.646 others(22): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42841181 | ATATTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0008a0001c0001t0004g0127a0001c0001t0004g0157others(6): Show | 9 | 270 | 0.0333 | -5 | c.184 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0259a0001c0001t0001g0268others(8): Show | 11 | 270 | 0.0407 | -5 | c.184 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47617090 | AGTGCT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(248): Show | 253 | 312 | 0.8109 | -5 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47639629 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0179others(51): Show | 54 | 312 | 0.1731 | -5 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47659734 | GTTCTC | G | intron_variant | MODIFIER | HG02129.hp2 HG04204.hp2 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0234a0001c0001t0001g0250a0001c0001t0001g0306others(2): Show | 5 | 312 | 0.0160 | -5 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BIN2_chr12_51276038_51329174 | 51283263 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(36): Show | 42 | 400 | 0.1050 | -5 | c.166 others(24): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51305716 | ATTTAC | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18906.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0296a0003c0003t0001g0303a0003c0003t0001g0309 | 3 | 400 | 0.0075 | -5 | c.163 others(22): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22645533 | GAGGAA | G | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03139.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0008a0001c0001t0002g0088a0001c0001t0002g0089others(7): Show | 11 | 386 | 0.0285 | -5 | c.9-7 others(16): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649371 | AAAAGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0146a0001c0001t0001g0147others(116): Show | 129 | 386 | 0.3342 | -5 | c.9-4 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAAAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0203a0001c0002t0001g0204others(3): Show | 7 | 386 | 0.0181 | -5 | c.8+5 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102351614 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG02040.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0250a0001c0001t0001g0251others(9): Show | 13 | 344 | 0.0378 | -5 | c.995 others(20): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |