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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1_chr17_43039295_43130364 | 43046222 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0030 | 1 | 276 | 0.0036 | -11 | c.546 others(28): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32349216 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(102): Show |
a0001a0004a0007others(7): Show | a0001c0001a0001c0010a0004c0019others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(98): Show | 105 | 398 | 0.2638 | -11 | c.700 others(30): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRCA2_chr13_32310508_32405268 | 32368001 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02004.hp1 HG02922.hp1 NA18986.hp1 others(2): Show |
a0002a0004a0011others(2): Show | a0002c0002a0004c0006a0011c0016others(2): Show | a0002c0002t0006a0004c0006t0007a0011c0016t0005others(2): Show | a0002c0002t0006g0130a0004c0006t0007g0120a0011c0016t0005g0095others(2): Show | 5 | 398 | 0.0126 | -11 | c.833 others(30): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRD3_chr9_134025305_134073026 | 134051878 | TTGTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG03453.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0035 | a0001c0002t0008g0033a0001c0002t0035g0097 | 2 | 334 | 0.0060 | -11 | c.352 others(26): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15310358 | TCCCCCCC others(4): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0157 | 1 | 208 | 0.0048 | -11 | c.-35 others(30): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD8_chr5_138134770_138183630 | 138179108 | GGGCGGAG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 378 | 0.0027 | -11 | c.-50 others(20): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 479 | chr5 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91957007 | CTTTATAG others(4): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0159 | 1 | 318 | 0.0031 | -11 | c.-37 others(28): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 91962144 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0294 | 1 | 318 | 0.0031 | -11 | c.-37 others(26): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 91992013 | AAAAAAGA others(4): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0169 | 1 | 318 | 0.0031 | -11 | c.206 others(28): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125031574 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0178 | 1 | 410 | 0.0024 | -11 | c.*61 others(22): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 344 | chr12 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119242267 | GAGGACAG others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(69): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0027others(69): Show | 72 | 236 | 0.3051 | -11 | c.410 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119373722 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01071.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0023a0001c0001t0001g0037a0001c0001t0001g0099others(43): Show | 46 | 236 | 0.1949 | -11 | c.-47 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 4288 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190401388 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 240 | 0.0042 | -11 | c.236 others(30): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405482 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213a0001c0001t0002g0219a0001c0001t0002g0223others(2): Show | 5 | 240 | 0.0208 | -11 | c.236 others(30): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190444239 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 240 | 0.0042 | -11 | c.236 others(30): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453201 | GTATTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 240 | 0.0042 | -11 | c.236 others(28): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0095 | 2 | 240 | 0.0083 | -11 | c.236 others(28): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00673.hp2 others(35): Show |
a0001a0006a0008 | a0001c0001a0006c0012a0008c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | 266 | 0.1429 | -11 | c.249 others(30): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61721658 | AATATAAA others(4): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0084 | 1 | 266 | 0.0038 | -11 | c.238 others(30): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61749469 | TACAAATG others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0032a0002c0003t0061 | a0001c0001t0008g0247a0001c0001t0032g0141a0002c0003t0061g0184 | 3 | 266 | 0.0113 | -11 | c.209 others(30): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765368 | GTGTGTAT others(4): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0151a0001c0001t0015g0255 | 2 | 266 | 0.0075 | -11 | c.209 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765372 | GTATATAT others(4): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0194 | 1 | 266 | 0.0038 | -11 | c.209 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765410 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 266 | 0.0038 | -11 | c.209 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765412 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0185 | 1 | 266 | 0.0038 | -11 | c.209 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765417 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 266 | 0.0038 | -11 | c.209 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIX1_chr5_34910711_34930996 | 34921973 | AGGCCCAA others(4): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 440 | 0.0023 | -11 | c.316 others(26): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13884748 | CACCCGCC others(4): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 NA20129.hp2 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0031a0006c0007t0002g0032a0006c0007t0002g0033 | 3 | 322 | 0.0093 | -11 | c.176 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 7/8 | chr19 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35825355 | GGCGGATC others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0054 | 3 | 374 | 0.0080 | -11 | c.-11 others(22): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 982 | chr14 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55307777 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0100 | 1 | 338 | 0.0030 | -11 | c.209 others(28): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1450334 | CGTCCTCC others(4): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0353 | 1 | 360 | 0.0028 | -11 | c.128 others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217070 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 338 | 0.0030 | -11 | c.365 others(30): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp2 HG02615.hp2 others(6): Show |
a0003a0004 | a0003c0005a0004c0003 | a0003c0005t0007a0004c0003t0027a0004c0003t0039others(1): Show | a0003c0005t0007g0101a0003c0005t0007g0102a0003c0005t0007g0103others(6): Show | 9 | 338 | 0.0266 | -11 | c.248 others(30): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19009.hp1 NA19067.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195a0002c0002t0001g0199 | 2 | 338 | 0.0059 | -11 | c.235 others(28): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39279638 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 338 | 0.0030 | -11 | c.932 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 9/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39292121 | GTGGGTGG others(4): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0061 | 1 | 338 | 0.0030 | -11 | c.831 others(28): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62694195 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0033 | 1 | 330 | 0.0030 | -11 | c.630 others(26): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 4/10 | chr11 | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32360884 | AGATAGAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 | 2 | 170 | 0.0118 | -11 | c.*57 others(22): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3748 | chr1 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 55008213 | GCCCCCTG others(4): Show |
G | frameshift_variant others(1): Show |
HIGH | NA19055.hp2 | a0005 | a0005c0007 | a0005c0007t0091 | a0005c0007t0091g0029 | 1 | 448 | 0.0022 | -11 | c.549 others(18): Show |
p.Pro others(5): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 4/4 | 803/9761 | 549/963 | 183/320 | chr1 | TogoVar | ||
BSN_chr3_49549477_49676549 | 49673087 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp2 NA19043.hp2 |
a0001a0024 | a0001c0001a0024c0029 | a0001c0001t0003a0024c0029t0003 | a0001c0001t0003g0047a0001c0001t0003g0048a0024c0029t0003g0049 | 3 | 186 | 0.0161 | -11 | c.*56 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47973219 | AATAATAA others(4): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0327a0002c0002t0003g0073 | 2 | 444 | 0.0045 | -11 | c.*2+ others(26): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47975649 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0425 | 1 | 444 | 0.0023 | -11 | c.*2+ others(26): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47985059 | GTCTGAAA others(4): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0086a0001c0001t0002g0240 | 2 | 444 | 0.0045 | -11 | c.74- others(26): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113349113 | ACGTCTGG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 448 | 0.0022 | -11 | c.-46 others(20): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 427 | chr9 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410034 | GCCATGAG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -11 | c.-44 others(22): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4405 | chr19 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122980246 | GCTTGACT others(4): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG02027.hp2 others(33): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0017others(6): Show | 36 | 422 | 0.0853 | -11 | c.263 others(26): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91995844 | GTGCTGTT others(4): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 330 | 0.0030 | -11 | c.331 others(28): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD10_chr11_13383008_13468222 | 13391432 | GAACTAAA others(4): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(145): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(118): Show | 148 | 356 | 0.4157 | -11 | c.111 others(30): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 8/8 | chr11 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1990666 | TCCCGCCG others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0005a0002c0026others(4): Show | a0001c0003t0002a0001c0003t0012a0002c0005t0002others(5): Show | a0001c0003t0002g0252a0001c0003t0002g0319a0001c0003t0002g0320others(9): Show | 12 | 364 | 0.0330 | -11 | c.790 others(24): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1991787 | CTGGCCTG others(4): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0188 | 1 | 364 | 0.0028 | -11 | c.685 others(26): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2006130 | TCCAAGGG others(4): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 364 | 0.0028 | -11 | c.408 others(28): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/8 | chr19 | TogoVar |