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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 NA18942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0040a0001c0002t0014 | a0001c0001t0003g0119 a0001c0001t0040g0336 a0001c0002t0014g0158 |
3 | 225 | 0.0133 | -32 | c.241 others(49): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700888 | TTTCCTTC others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03710.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 a0001c0001t0003g0193 |
2 | 260 | 0.0077 | -32 | c.-17 others(43): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1586 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700932 | CTTCCTTC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 334 | 0.0030 | -32 | c.-17 others(43): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1630 | chr12 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0023 |
3 | 32 | 0.0938 | -32 | c.490 others(47): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153512617 | ACACTCAC others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0006 | 1 | 319 | 0.0031 | -32 | c.*41 others(43): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3072 | chrX | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(25): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0082 others(37): Show |
40 | 58 | 0.6897 | -32 | c.307 others(51): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732373 | GTGTATGT others(25): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 117 | 0.0085 | -32 | c.307 others(51): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732379 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0094 a0001c0001t0006g0079 a0001c0001t0007g0096 others(1): Show |
4 | 121 | 0.0331 | -32 | c.307 others(51): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116460 | CTGTCTCT others(25): Show |
C | intron_variant | MODIFIER | NA18977.hp2 NA18981.hp2 NA19063.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0002t0001 | a0001c0001t0003g0239 a0001c0001t0012g0229 a0001c0002t0001g0231 others(1): Show |
4 | 288 | 0.0139 | -32 | c.213 others(49): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(25): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 7 | 0.1429 | -32 | c.184 others(51): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 208 | 0.0048 | -32 | c.761 others(47): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342357 | TATATATA others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 342 | 0.0058 | -32 | c.-62 others(43): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4856 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102364150 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0254 a0001c0001t0002g0255 others(3): Show |
7 | 339 | 0.0206 | -32 | c.112 others(49): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342357 | TATATATA others(25): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0032 | 2 | 382 | 0.0052 | -32 | c.*52 others(43): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2955 | chr11 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32369939 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0155 | 1 | 271 | 0.0037 | -32 | c.326 others(49): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369941 | AAAAAATA others(25): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG02109.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0003a0001c0006a0001c0013 | a0001c0003t0001a0001c0003t0005a0001c0006t0001others(1): Show | a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 others(5): Show |
8 | 264 | 0.0303 | -32 | c.326 others(49): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369943 | AAAATATA others(25): Show |
A | intron_variant | MODIFIER | HG01167.hp1 NA20905.hp2 |
a0001a0005 | a0001c0006a0005c0020 | a0001c0006t0001a0005c0020t0001 | a0001c0006t0001g0005 a0005c0020t0001g0012 |
2 | 257 | 0.0078 | -32 | c.326 others(49): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397673 | TACACACA others(25): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0026 a0001c0009t0001g0027 a0001c0009t0001g0028 others(2): Show |
5 | 272 | 0.0184 | -32 | c.103 others(51): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11560155 | GTGGGTGG others(25): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 305 | 0.0033 | -32 | c.103 others(51): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122327649 | TTTTAAAA others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show |
6 | 334 | 0.0180 | -32 | c.112 others(51): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 67/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284110 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(2): Show |
5 | 135 | 0.0370 | -32 | c.-26 others(51): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284144 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 |
3 | 312 | 0.0096 | -32 | c.-26 others(51): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284166 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(1): Show |
4 | 307 | 0.0130 | -32 | c.-26 others(51): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86751734 | CATATGTG others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0014a0001c0003t0032others(2): Show | a0001c0002t0006g0011 a0001c0003t0014g0002 a0001c0003t0014g0005 others(7): Show |
10 | 267 | 0.0375 | -32 | c.-54 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 4884 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86790182 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0017 | 1 | 273 | 0.0037 | -32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790188 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0270 | 1 | 189 | 0.0053 | -32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95049419 | GTTTTTTT others(25): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0005g0186 a0001c0001t0008g0025 a0001c0001t0008g0027 others(5): Show |
8 | 11 | 0.7273 | -32 | c.-18 others(51): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15498545 | TCTCTCTC others(25): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 214 | 0.0047 | -32 | c.-24 others(43): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 2261 | chrX | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16498112 | TATGTATA others(25): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0081 | 1 | 174 | 0.0057 | -32 | c.669 others(51): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16504270 | ATAATACA others(25): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01106.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0125 others(49): Show |
52 | 151 | 0.3444 | -32 | c.669 others(51): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148083 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 207 | 0.0048 | -32 | c.177 others(49): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01346.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0218 others(4): Show |
10 | 51 | 0.1961 | -32 | c.116 others(49): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BOLL_chr2_197721890_197790319 | 197784391 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0238 a0001c0001t0005g0034 a0001c0001t0005g0252 others(2): Show |
6 | 27 | 0.2222 | -32 | c.-16 others(47): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140915529 | GGTTCAAG others(25): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0172 | 1 | 188 | 0.0053 | -32 | c.138 others(49): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140915529 | GGTTCAAG others(25): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0177 | 1 | 194 | 0.0052 | -32 | c.138 others(49): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91962144 | CAAAAAAA others(25): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0131 | 1 | 17 | 0.0588 | -32 | c.-37 others(47): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02970.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 |
3 | 7 | 0.4286 | -32 | c.961 others(51): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55300677 | AAAAATAA others(25): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 336 | 0.0030 | -32 | c.679 others(47): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55308774 | CCGTGGGT others(25): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03704.hp1 NA19054.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0025 | a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0003g0091 others(1): Show |
4 | 148 | 0.0270 | -32 | c.217 others(48): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1423667 | AGCCTCCC others(25): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG01515.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0153 a0001c0001t0003g0258 others(13): Show |
16 | 240 | 0.0667 | -32 | c.92- others(49): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441290 | GCCCCTCA others(25): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0226 | 1 | 333 | 0.0030 | -32 | c.413 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441473 | CCCCCATT others(25): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0208 | 1 | 358 | 0.0028 | -32 | c.413 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441765 | CCCCCATT others(25): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01993.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0340 a0001c0001t0004g0174 others(6): Show |
9 | 357 | 0.0252 | -32 | c.414 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441929 | TCATTAGC others(25): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0337 | 1 | 358 | 0.0028 | -32 | c.414 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217019 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01255.hp2 others(15): Show |
a0001a0012 | a0001c0001a0012c0022 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0037 others(15): Show |
18 | 336 | 0.0536 | -32 | c.365 others(51): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816621 | ATATTATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0067 | 1 | 419 | 0.0024 | -32 | c.*28 others(43): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1037 | chr1 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816708 | ATATTATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02615.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023 | a0001c0001t0014g0006 a0001c0001t0023g0006 |
6 | 423 | 0.0142 | -32 | c.*29 others(43): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1124 | chr1 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93300742 | GTGTGTGT others(25): Show |
G | intron_variant | MODIFIER | HG01168.hp2 NA18944.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0056 | a0001c0001t0002g0293 a0003c0003t0056g0133 |
2 | 367 | 0.0054 | -32 | c.-10 others(51): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38266605 | GGAAAGAA others(25): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG02559.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0080a0001c0001t0086 | a0001c0001t0021g0136 a0001c0001t0021g0217 a0001c0001t0080g0137 others(1): Show |
4 | 54 | 0.0741 | -32 | c.145 others(53): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38465729 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01256.hp1 NA18970.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0056a0001c0001t0072others(1): Show | a0001c0001t0003g0026 a0001c0001t0056g0041 a0001c0001t0072g0140 others(1): Show |
4 | 222 | 0.0180 | -32 | c.115 others(55): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar |