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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5_chr6_8008567_8069389 | 8025326 | GTCCCCAG others(12): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0004 | a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 others(3): Show |
6 | 362 | 0.0166 | -19 | c.384 others(36): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124935 | TTTATATA others(12): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 HG01928.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0032 a0004c0005t0001g0034 a0004c0005t0001g0035 |
3 | 182 | 0.0165 | -19 | c.45- others(36): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124937 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0186 | 1 | 184 | 0.0054 | -19 | c.45- others(36): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57235910 | TAGGGAGT others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(57): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0051 others(56): Show |
60 | 270 | 0.2222 | -19 | c.419 others(36): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86790173 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0160 | 1 | 274 | 0.0036 | -19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790183 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0155 a0001c0002t0021g0156 |
2 | 272 | 0.0074 | -19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790187 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG02300.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0021a0002c0001t0013 | a0001c0002t0003g0096 a0001c0002t0003g0145 a0001c0002t0021g0073 others(1): Show |
4 | 265 | 0.0151 | -19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(34): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(10): Show | a0001c0002t0003g0062 a0001c0002t0003g0082 a0001c0002t0003g0090 others(34): Show |
37 | 242 | 0.1529 | -19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86835549 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0010a0001c0002t0052others(4): Show | a0001c0002t0007g0272 a0001c0002t0010g0170 a0001c0002t0010g0171 others(6): Show |
9 | 22 | 0.4091 | -19 | c.-26 others(38): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94970286 | CTTCTCTT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 a0001c0001t0004g0112 |
2 | 224 | 0.0089 | -19 | c.-11 others(40): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202373158 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 59 | 0.0169 | -19 | c.-43 others(30): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3168 | chr2 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202490912 | GTTTTTGT others(12): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 222 | 0.0045 | -19 | c.419 others(38): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16464548 | GATAAGAT others(12): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG02970.hp1 NA20129.hp2 others(1): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0104a0001c0001t0105a0001c0001t0106others(1): Show | a0001c0001t0104g0087 a0001c0001t0105g0061 a0001c0001t0106g0042 others(1): Show |
4 | 174 | 0.0230 | -19 | c.670 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16506508 | CTCCTCTT others(12): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 147 | 0.0068 | -19 | c.669 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16665443 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0151 | 1 | 117 | 0.0085 | -19 | c.330 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148082 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | -19 | c.177 others(36): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148084 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01884.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0073 |
4 | 232 | 0.0172 | -19 | c.177 others(36): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | chr5 | TogoVar | |||||||
BNIP3_chr10_131962684_131986923 | 131981609 | GGGGTGGG others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18967.hp2 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0122 |
5 | 436 | 0.0115 | -19 | c.46+ others(32): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36324571 | GATATTAT others(12): Show |
G | intron_variant | MODIFIER | NA18946.hp2 NA18969.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 a0002c0002t0001g0178 |
2 | 394 | 0.0051 | -19 | c.116 others(36): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260702 | CAGAACAG others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
a0001a0003 | a0001c0014a0003c0007 | a0001c0014t0001a0003c0007t0002a0003c0007t0003others(2): Show | a0001c0014t0001g0108 a0003c0007t0002g0176 a0003c0007t0003g0001 others(8): Show |
13 | 384 | 0.0339 | -19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13565479 | GAGTGCAG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02293.hp1 HG02723.hp1 HG02976.hp1 others(2): Show |
a0002a0006a0022others(1): Show | a0002c0002a0006c0007a0006c0015others(2): Show | a0002c0002t0001a0006c0007t0001a0006c0015t0001others(2): Show | a0002c0002t0001g0174 a0006c0007t0001g0152 a0006c0015t0001g0150 others(2): Show |
5 | 256 | 0.0195 | -19 | c.*45 others(30): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 3258 | chr4 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144278249 | AGCAGGAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02970.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0029 others(2): Show |
5 | 396 | 0.0126 | -19 | c.310 others(36): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177681 | GAAGGAAG others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp2 NA18949.hp2 NA18963.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0067 others(2): Show |
10 | 351 | 0.0285 | -19 | c.*43 others(34): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177692 | GGAAGAGA others(12): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 330 | 0.0030 | -19 | c.*43 others(34): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134661146 | AAATTGCC others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(171): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(82): Show |
174 | 360 | 0.4833 | -19 | c.-61 others(34): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGTG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
107 | 124 | 0.8629 | -19 | c.*34 others(30): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33063574 | GAGCTCTT others(12): Show |
G | intron_variant | MODIFIER | NA19043.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 372 | 0.0054 | -19 | c.580 others(32): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32416019 | ATTGGGCA others(12): Show |
A | intron_variant | MODIFIER | HG01943.hp1 NA18612.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0252 others(4): Show |
8 | 419 | 0.0191 | -19 | c.132 others(34): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 15/16 | chr22 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140732170 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0117 others(18): Show |
21 | 45 | 0.4667 | -19 | c.240 others(38): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140732170 | CAAAAAAA others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0023others(2): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 others(18): Show |
21 | 45 | 0.4667 | -19 | c.*24 others(30): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 18/18 | 2408 | chr7 | TogoVar | ||||||
BRCC3_chrX_155066508_155128077 | 155085742 | ACAGGGAG others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 others(3): Show |
6 | 252 | 0.0238 | -19 | c.404 others(36): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134051867 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0005 | a0001c0005t0073 | a0001c0005t0073g0208 | 1 | 327 | 0.0031 | -19 | c.352 others(34): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
BRD3_chr9_134025305_134073026 | 134054525 | CGCCTGGG others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02145.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0019a0001c0002t0020others(9): Show | a0001c0002t0017g0008 a0001c0002t0017g0094 a0001c0002t0019g0030 others(16): Show |
22 | 332 | 0.0663 | -19 | c.-11 others(36): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15278105 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0042a0001c0004t0044a0001c0004t0060others(1): Show | a0001c0004t0042g0023 a0001c0004t0044g0019 a0001c0004t0060g0105 others(1): Show |
4 | 21 | 0.1905 | -19 | c.-34 others(36): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15292777 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0051 | a0001c0010t0051g0102 | 1 | 18 | 0.0556 | -19 | c.-34 others(38): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD9_chr5_858741_897801 | 892501 | GCCAGGAC others(12): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0022 | 2 | 362 | 0.0055 | -19 | c.52+ others(31): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 1/15 | chr5 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91962144 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01081.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0002a0001c0001t0008a0001c0008t0002others(1): Show | a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 others(13): Show |
16 | 32 | 0.5000 | -19 | c.-37 others(34): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190235722 | CTTCAAAT others(12): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 238 | 0.0042 | -19 | c.619 others(36): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190405474 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 238 | 0.0042 | -19 | c.236 others(38): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BROX_chr1_222707564_222740187 | 222733063 | CTTTTTTT others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 342 | 0.0029 | -19 | c.*36 others(28): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 13/13 | 362 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39200888 | GCAGAAGA others(12): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0220 | 1 | 336 | 0.0030 | -19 | c.458 others(36): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 38/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG03139.hp2 HG04228.hp1 others(3): Show |
a0001a0006a0008others(1): Show | a0001c0001a0006c0009a0006c0013others(2): Show | a0001c0001t0003a0006c0009t0012a0006c0013t0012others(2): Show | a0001c0001t0003g0319 a0006c0009t0012g0083 a0006c0009t0012g0084 others(3): Show |
6 | 32 | 0.1875 | -19 | c.248 others(38): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03540.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0034g0062 |
3 | 14 | 0.2143 | -19 | c.235 others(36): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39274906 | GGCACATG others(12): Show |
G | intron_variant | MODIFIER | HG02630.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0066 |
2 | 336 | 0.0060 | -19 | c.114 others(36): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 12/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80670642 | ACTCCTGG others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0190 | 1 | 263 | 0.0038 | -19 | c.*59 others(30): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 41/41 | 5948 | chrX | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49583615 | AAATAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0045 | 1 | 184 | 0.0054 | -19 | c.224 others(38): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47963898 | TTTTCTTT others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0142 others(34): Show |
37 | 275 | 0.1345 | -19 | c.*42 others(30): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4147 | chr19 | TogoVar | |||||||
BTBD8_chr1_92075345_92189723 | 92168315 | AAAATGTA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
104 | 156 | 0.6667 | -19 | c.144 others(36): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38171846 | CAAAAAAA others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG03195.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030a0001c0001t0113 | a0001c0001t0010g0074 a0001c0001t0010g0075 a0001c0001t0010g0092 others(3): Show |
6 | 81 | 0.0741 | -19 | c.*31 others(30): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3120 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38375947 | GAAGGAAA others(12): Show |
G | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 221 | 0.0045 | -19 | c.115 others(40): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar |