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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0002g0006 others(6): Show |
9 | 177 | 0.0508 | 11 | c.280 others(28): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042a0001c0001t0103others(1): Show | a0001c0001t0001g0236 a0001c0001t0042g0136 a0001c0001t0103g0041 others(1): Show |
4 | 172 | 0.0233 | 11 | c.280 others(28): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 169 | 0.0059 | 11 | c.280 others(28): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0104 | 1 | 169 | 0.0059 | 11 | c.280 others(28): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01070.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0115 others(29): Show |
32 | 54 | 0.5926 | 11 | c.78+ others(26): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCCIP_chr10_125818546_125841551 | 125826996 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01069.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0041 others(15): Show |
32 | 165 | 0.1939 | 11 | c.240 others(26): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797307 | C | CCTCCCTT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 2 | 278 | 0.0072 | 11 | c.151 others(32): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41429824 | G | GATTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 372 | 0.0027 | 11 | c.*52 others(22): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4823 | chr19 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103565 | C | CTCTCGTC others(4): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 298 | 0.0034 | 11 | c.-50 others(22): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4820 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60471115 | C | CTTTCGAA others(4): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0256 | 1 | 260 | 0.0038 | 11 | c.386 others(28): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507241 | A | AGGGGAGG others(4): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 118 | 0.0085 | 11 | c.386 others(30): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 31 | 0.0323 | 11 | c.385 others(28): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAA others(4): Show |
5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02818.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0064a0001c0001t0065 | a0001c0001t0013g0247 a0001c0001t0013g0248 a0001c0001t0013g0249 others(4): Show |
7 | 66 | 0.1061 | 11 | c.-24 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99199681 | T | TGCGCGCG others(4): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0074 | 1 | 303 | 0.0033 | 11 | c.641 others(30): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL2A1_chr15_79955892_79976196 | 79959784 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01346.hp2 others(22): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0098 a0003c0003t0001g0006 a0003c0003t0001g0041 others(6): Show |
25 | 364 | 0.0687 | 11 | c.*12 others(22): Show |
BCL2A1 | ENSG00000140379.9 | transcript | ENST00000267953.4 | protein_coding | 1107 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52111173 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 67 | 0.0149 | 11 | c.489 others(28): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0180 a0001c0001t0003g0036 others(6): Show |
10 | 73 | 0.1370 | 11 | c.*64 others(22): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 a0001c0001t0005g0183 |
2 | 82 | 0.0244 | 11 | c.-51 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0220 | 1 | 81 | 0.0123 | 11 | c.-51 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0186 a0001c0001t0004g0185 a0001c0001t0005g0145 others(1): Show |
4 | 84 | 0.0476 | 11 | c.-51 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17680215 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01081.hp1 others(10): Show |
a0003a0004 | a0003c0004a0003c0005a0004c0006 | a0003c0004t0015a0003c0004t0016a0003c0004t0030others(5): Show | a0003c0004t0015g0084 a0003c0004t0015g0252 a0003c0004t0016g0090 others(10): Show |
13 | 89 | 0.1461 | 11 | c.122 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTCT others(4): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02647.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0028a0001c0001t0041 | a0001c0001t0010g0239 a0001c0001t0028g0297 a0001c0001t0041g0240 |
3 | 90 | 0.0333 | 11 | c.229 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0106 | 1 | 88 | 0.0114 | 11 | c.229 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17711304 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 209 | 0.0048 | 11 | c.600 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715170 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0263 a0002c0003t0001g0264 |
2 | 252 | 0.0079 | 11 | c.601 others(30): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715171 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0282 | 1 | 300 | 0.0033 | 11 | c.601 others(30): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | chr22 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63133319 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0120 | 1 | 18 | 0.0556 | 11 | c.586 others(28): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169248 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0074 | 1 | 128 | 0.0078 | 11 | c.586 others(30): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169329 | T | TTCCTTTC others(4): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0027 | a0001c0001t0007g0131 a0001c0002t0027g0057 |
2 | 256 | 0.0078 | 11 | c.586 others(30): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169332 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18962.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0019 a0001c0001t0003g0105 a0001c0001t0007g0226 others(1): Show |
4 | 239 | 0.0167 | 11 | c.586 others(30): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63274277 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0045 | 1 | 148 | 0.0068 | 11 | c.585 others(30): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44757112 | C | CACGGCCA others(4): Show |
frameshift_variant | HIGH | NA18948.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0137 | 1 | 342 | 0.0029 | 11 | c.615 others(18): Show |
p.Gln others(5): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4/9 | 699/1877 | 616/1365 | 206/454 | chr19 | TogoVar | |||
BCL7A_chr12_122016884_122067044 | 122038431 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(19): Show | a0001c0001t0004g0171 a0001c0001t0004g0188 a0001c0001t0004g0210 others(49): Show |
52 | 134 | 0.3881 | 11 | c.271 others(28): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147540231 | T | TCTCTCTC others(4): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 7 | 0.1429 | 11 | c.-19 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1269 | chr1 | TogoVar | |||||||
BCL9_chr1_147536501_147631216 | 147540265 | C | CTCTCTCT others(4): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0195 | 1 | 313 | 0.0032 | 11 | c.-18 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1235 | chr1 | TogoVar | |||||||
BCL9_chr1_147536501_147631216 | 147551031 | C | CCTTATAA others(4): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 314 | 0.0032 | 11 | c.-47 others(30): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19951595 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0117 a0001c0001t0002g0051 a0001c0001t0003g0028 others(11): Show |
15 | 134 | 0.1119 | 11 | c.163 others(28): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 7/11 | chrX | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19995664 | A | AGAAAGGA others(4): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 130 | 0.0077 | 11 | c.-47 others(22): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4604 | chrX | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19995664 | A | AGAAGGAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 130 | 0.0077 | 11 | c.-47 others(22): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4604 | chrX | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19995668 | G | GAAAGAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0165 | 1 | 179 | 0.0056 | 11 | c.-47 others(22): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4608 | chrX | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0011 | 1 | 225 | 0.0044 | 11 | c.193 others(28): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81250578 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 others(5): Show |
8 | 233 | 0.0343 | 11 | c.193 others(28): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(33): Show |
a0001a0002a0017 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0191 others(33): Show |
36 | 50 | 0.7200 | 11 | c.294 others(26): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0114 a0001c0001t0001g0127 |
3 | 148 | 0.0203 | 11 | c.484 others(30): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510681 | T | TGTGTGTG others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0146 | 1 | 269 | 0.0037 | 11 | c.*12 others(22): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1213 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGTGT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0206 | 1 | 186 | 0.0054 | 11 | c.*12 others(22): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197542521 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG03579.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0053a0003c0007t0045 | a0001c0001t0003g0021 a0001c0001t0003g0229 a0001c0001t0053g0221 others(1): Show |
5 | 176 | 0.0284 | 11 | c.83+ others(26): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3/7 | chr3 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71477617 | A | ATGTTTTC others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0013 | 1 | 191 | 0.0052 | 11 | c.101 others(30): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71477617 | A | ATTTTTTC others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
a0001a0004a0006others(9): Show | a0001c0001a0001c0021a0001c0022others(15): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(21): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0015 others(128): Show |
133 | 323 | 0.4118 | 11 | c.101 others(30): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66461613 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 295 | 0.0034 | 11 | c.26- others(26): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |