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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF10_chr8_1818926_1963641 | 1850384 | GGACGGCA others(37): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02818.hp2 others(1): Show |
a0001a0018 | a0001c0002a0001c0003a0001c0012others(1): Show | a0001c0002t0026a0001c0003t0026a0001c0012t0074others(1): Show | a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0012t0074g0191 others(1): Show |
4 | 363 | 0.0110 | -44 | c.37+ others(59): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF11_chr1_156929840_157050742 | 157035895 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 362 | 0.0028 | -44 | c.32+ others(59): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 1/40 | chr1 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3476674 | CTCCCCTA others(37): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 334 | 0.0030 | -44 | c.147 others(61): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3483074 | GGCTCAGC others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02818.hp1 |
a0002a0003 | a0002c0030a0003c0016 | a0002c0030t0007a0003c0016t0002a0003c0016t0007 | a0002c0030t0007g0261 a0003c0016t0002g0293 a0003c0016t0007g0294 |
3 | 334 | 0.0090 | -44 | c.*24 others(55): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 1962 | chr1 | TogoVar | |||||||
ARHGEF28_chr5_73621196_73946990 | 73671714 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01169.hp1 others(11): Show |
a0002a0006a0008others(4): Show | a0002c0002a0002c0006a0006c0010others(7): Show | a0002c0002t0001a0002c0006t0003a0002c0006t0004others(9): Show | a0002c0002t0001g0130 a0002c0006t0003g0111 a0002c0006t0004g0109 others(11): Show |
14 | 188 | 0.0745 | -44 | c.-11 others(63): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73671716 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 |
a0004a0015 | a0004c0057a0015c0037 | a0004c0057t0003a0015c0037t0003 | a0004c0057t0003g0107 a0015c0037t0003g0110 |
2 | 188 | 0.0106 | -44 | c.-11 others(63): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130833397 | AAAAGAAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 NA18981.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0002t0001g0083 |
3 | 144 | 0.0208 | -44 | c.-35 others(55): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 3516 | chr2 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111221390 | TGTCTATA others(37): Show |
T | intron_variant | MODIFIER | HG00099.hp1 NA19057.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0219 a0001c0001t0001g0220 |
3 | 274 | 0.0110 | -44 | c.670 others(61): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | chr13 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151450359 | GGGGTCAG others(37): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02965.hp1 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0023 a0004c0005t0001g0048 a0004c0005t0001g0051 others(1): Show |
6 | 418 | 0.0144 | -44 | c.-21 others(55): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2106 | chr6 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68331189 | CTTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 NA18978.hp1 others(1): Show |
a0001a0004a0008 | a0001c0009a0004c0006a0004c0023others(1): Show | a0001c0009t0001a0004c0006t0002a0004c0023t0002others(1): Show | a0001c0009t0001g0009 a0004c0006t0002g0157 a0004c0023t0002g0155 others(1): Show |
4 | 304 | 0.0132 | -44 | c.219 others(63): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037043 | TATATATA others(37): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 248 | 0.0040 | -44 | c.*36 others(55): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2933 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113924046 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 350 | 0.0029 | -44 | c.399 others(63): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049277 | AGGAGAAC others(37): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0243 |
2 | 308 | 0.0065 | -44 | c.*54 others(55): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2826 | chr8 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236237368 | CGGGGCCG others(37): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0015 | a0003c0015t0019 | a0003c0015t0019g0008 | 1 | 250 | 0.0040 | -44 | c.596 others(59): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218533 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00733.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(40): Show |
48 | 410 | 0.1171 | -44 | c.671 others(61): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219533 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0100 others(3): Show |
6 | 410 | 0.0146 | -44 | c.670 others(61): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB8_chr12_48142789_48162515 | 48156425 | TGGTAATT others(37): Show |
T | intron_variant | MODIFIER | NA18948.hp2 NA18960.hp1 NA18990.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0027 a0001c0001t0002g0205 a0001c0001t0007g0133 others(1): Show |
6 | 450 | 0.0133 | -44 | c.-34 others(60): Show |
ASB8 | ENSG00000177981.11 | transcript | ENST00000317697.8 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50071946 | GAGGACAG others(37): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 324 | 0.0031 | -44 | c.559 others(61): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62386461 | ATACATAT others(37): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0001t0038a0001c0005t0040others(3): Show | a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 others(4): Show |
7 | 370 | 0.0189 | -44 | c.492 others(61): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325623 | TACATACA others(37): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01943.hp2 HG01981.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0079 a0001c0001t0002g0065 a0001c0001t0002g0066 others(7): Show |
10 | 236 | 0.0424 | -44 | c.364 others(61): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP6AP1_chrX_154423677_154441516 | 154431308 | GTGGTCCT others(37): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0004 | a0001c0002t0003g0015 a0002c0004t0004g0019 a0002c0004t0004g0025 others(1): Show |
7 | 302 | 0.0232 | -44 | c.289 others(59): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2/9 | chrX | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784235 | CGTATATA others(37): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0022 | a0003c0022t0003 | a0003c0022t0003g0216 | 1 | 376 | 0.0027 | -44 | c.-18 others(61): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46546468 | ATATATGT others(37): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01256.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show |
49 | 410 | 0.1195 | -44 | c.-46 others(55): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3892 | chr2 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0247 |
2 | 286 | 0.0070 | -44 | c.127 others(61): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57670492 | CAGGCGGG others(37): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 314 | 0.0032 | -44 | c.193 others(61): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 17/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1801859 | CATTTTGC others(37): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0005 | a0005c0014 | a0005c0014t0002 | a0005c0014t0002g0011 | 1 | 390 | 0.0026 | -44 | c.115 others(59): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 12/28 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79372175 | CTCCCCTG others(37): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 298 | 0.0034 | -44 | c.301 others(61): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(37): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0111 others(21): Show |
24 | 128 | 0.1875 | -44 | c.390 others(65): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 218 | 0.0046 | -44 | c.513 others(63): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16367701 | TGCCTTGC others(37): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(17): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0051others(9): Show | a0001c0001t0011a0001c0001t0020a0002c0002t0003others(12): Show | a0001c0001t0011g0131 a0001c0001t0020g0002 a0002c0002t0003g0007 others(17): Show |
20 | 182 | 0.1099 | -44 | c.-16 others(65): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70377325 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0039 | 1 | 76 | 0.0132 | -44 | c.661 others(63): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(37): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0033 a0002c0002t0002g0075 a0002c0002t0002g0077 others(1): Show |
5 | 446 | 0.0112 | -44 | c.287 others(59): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835437 | CGCGTGCA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0003t0001g0086 a0001c0004t0001g0083 |
3 | 391 | 0.0077 | -44 | c.*35 others(55): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3420 | chr19 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77032668 | TATATATA others(37): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0074 | 1 | 442 | 0.0023 | -44 | c.-18 others(55): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1729 | chr11 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81411490 | GCCTGCCT others(37): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 |
a0001a0017 | a0001c0007a0017c0023 | a0001c0007t0009a0017c0023t0015 | a0001c0007t0009g0260 a0017c0023t0015g0277 |
2 | 332 | 0.0060 | -44 | c.178 others(63): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405344 | GCTTTCTT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0296 | 1 | 298 | 0.0034 | -44 | c.-45 others(55): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4255 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81119129 | CCAGGTGA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338 |
3 | 376 | 0.0080 | -44 | c.*32 others(55): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 1696 | chr17 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101986787 | GTGTATAT others(37): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0237 | 1 | 284 | 0.0035 | -44 | c.120 others(65): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75250662 | CCCTCACC others(37): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 392 | 0.0026 | -44 | c.12+ others(57): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199661 | TGTGTGTG others(37): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0089 | a0001c0002t0089g0345 | 1 | 350 | 0.0029 | -44 | c.641 others(63): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169248 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0102 a0001c0001t0001g0136 a0001c0001t0001g0143 others(70): Show |
73 | 264 | 0.2765 | -44 | c.586 others(63): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL9_chr1_147536501_147631216 | 147541147 | AGAGAGAG others(37): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225 | 1 | 316 | 0.0032 | -44 | c.-10 others(54): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 353 | chr1 | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19995632 | AGAAAGAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 207 | 0.0048 | -44 | c.-48 others(55): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4572 | chrX | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235157 | CATATATA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03098.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0123 a0001c0007t0001g0148 |
2 | 402 | 0.0050 | -44 | c.-37 others(55): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3531 | chr16 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81284240 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(369): Show |
381 | 402 | 0.9478 | -44 | c.120 others(63): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046532 | AAATATAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG03471.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0002g0033 |
2 | 257 | 0.0078 | -44 | c.*55 others(55): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4718 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(37): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02896.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0009 | a0001c0001t0003a0001c0001t0013a0001c0001t0024others(2): Show | a0001c0001t0003g0230 a0001c0001t0013g0195 a0001c0001t0013g0199 others(4): Show |
7 | 368 | 0.0190 | -44 | c.241 others(61): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0318 | 1 | 368 | 0.0027 | -44 | c.241 others(61): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG04204.hp2 NA19240.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0015 a0001c0001t0001g0137 a0004c0006t0001g0264 |
3 | 276 | 0.0109 | -44 | c.490 others(59): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346572 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG04204.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0015others(1): Show | a0001c0001t0010g0014 a0001c0001t0012g0265 a0001c0001t0015g0020 others(1): Show |
4 | 290 | 0.0138 | -44 | c.276 others(63): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |