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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPI_chr20_38299156_38342505 | 38331854 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01993.hp2 others(19): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0004others(8): Show | a0001c0001t0003a0001c0001t0006a0002c0002t0003others(9): Show | a0001c0001t0003g0334a0001c0001t0003g0335a0001c0001t0006g0289others(17): Show | 22 | 426 | 0.0516 | -9 | c.127 others(26): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67893816 | CAATGAGT others(2): Show |
C | intron_variant | MODIFIER | NA18962.hp1 NA18970.hp1 NA18971.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014a0002c0002t0002g0201a0002c0002t0002g0202others(1): Show | 4 | 274 | 0.0146 | -9 | c.241 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67919173 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0021others(65): Show | 68 | 274 | 0.2482 | -9 | c.542 others(26): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAF_chr7_140714337_140929929 | 140772272 | TACAACAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0135a0001c0001t0005g0182a0001c0001t0005g0183others(15): Show | 18 | 190 | 0.0947 | -9 | c.181 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140909809 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0001 | a0001c0001t0017g0110a0001c0002t0001g0074a0001c0002t0001g0075others(1): Show | 4 | 190 | 0.0211 | -9 | c.138 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140772272 | TACAACAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0021others(5): Show | a0001c0001t0005g0187a0001c0001t0005g0188a0001c0001t0005g0189others(16): Show | 19 | 196 | 0.0969 | -9 | c.169 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140909809 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0056a0001c0002t0011a0001c0002t0012 | a0001c0001t0056g0114a0001c0002t0011g0077a0001c0002t0012g0078others(1): Show | 4 | 196 | 0.0204 | -9 | c.138 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111667698 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0002a0001c0004t0002 | a0001c0001t0001g0147a0001c0003t0002g0228a0001c0003t0002g0229others(6): Show | 9 | 364 | 0.0247 | -9 | c.748 others(26): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2552100 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02148.hp1 HG03927.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0006a0002c0004t0001g0342a0002c0004t0001g0343others(2): Show | 7 | 424 | 0.0165 | -9 | c.127 others(26): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32368001 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG00741.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0010others(15): Show | a0001c0001t0001g0189a0001c0001t0001g0241a0001c0001t0001g0242others(53): Show | 59 | 398 | 0.1482 | -9 | c.833 others(28): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRD1_chr22_49768283_49832873 | 49786366 | AGCAGAGG others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02056.hp2 HG03017.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0166a0001c0001t0001g0173a0001c0002t0001g0214others(6): Show | 9 | 258 | 0.0349 | -9 | c.285 others(28): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 8/12 | chr22 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15292777 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02630.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0011 | a0001c0002t0014a0001c0002t0016a0001c0004t0024others(1): Show | a0001c0002t0014g0187a0001c0002t0016g0195a0001c0004t0024g0038others(2): Show | 5 | 208 | 0.0240 | -9 | c.-34 others(28): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15298620 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01517.hp1 HG02738.hp1 others(6): Show |
a0001a0003a0013 | a0001c0002a0001c0004a0003c0011others(1): Show | a0001c0002t0013a0001c0002t0014a0001c0002t0046others(4): Show | a0001c0002t0013g0185a0001c0002t0013g0196a0001c0002t0014g0186others(6): Show | 9 | 208 | 0.0433 | -9 | c.-34 others(28): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15332501 | AGCCGCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0032others(1): Show | a0001c0001t0008a0001c0001t0075a0001c0015t0008others(2): Show | a0001c0001t0008g0201a0001c0001t0008g0203a0001c0001t0008g0204others(5): Show | 8 | 208 | 0.0385 | -9 | c.-25 others(18): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/20 | 59403 | chr19 | TogoVar | |||||
BRD9_chr5_858741_897801 | 862432 | CGGGGAGT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0012a0001c0004t0003g0150 | 5 | 364 | 0.0137 | -9 | c.*20 others(20): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 1308 | chr5 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91980329 | CCACCTGG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(169): Show | 181 | 318 | 0.5692 | -9 | c.128 others(26): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 8/18 | chr1 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105243465 | AAATAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(7): Show | 10 | 72 | 0.1389 | -9 | c.545 others(26): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | ||||||
BRF2_chr8_37838268_37854861 | 37850706 | CCAGGAGG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(2): Show | 9 | 380 | 0.0237 | -9 | c.-93 others(18): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 846 | chr8 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125019651 | TTTTTTTG others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0024a0001c0001t0035a0001c0001t0072others(6): Show | a0001c0001t0024g0069a0001c0001t0035g0070a0001c0001t0035g0076others(7): Show | 10 | 410 | 0.0244 | -9 | c.317 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125031574 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0019a0001c0001t0022others(7): Show | a0001c0001t0004g0063a0001c0001t0004g0065a0001c0001t0004g0271others(22): Show | 25 | 410 | 0.0610 | -9 | c.*61 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 344 | chr12 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280242 | AAAAAGAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01928.hp2 HG01943.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(2): Show | 12 | 414 | 0.0290 | -9 | c.-15 others(20): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1443 | chr7 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177176512 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG01993.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0166a0001c0001t0001g0171others(11): Show | 14 | 252 | 0.0556 | -9 | c.-77 others(26): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP2_chr1_177165958_177287422 | 177245134 | TAATAACT others(2): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA19030.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0169a0002c0003t0004g0231 | 2 | 252 | 0.0079 | -9 | c.270 others(28): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP3_chr1_190092658_190482864 | 190331766 | ACTCATAC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(60): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(60): Show | 63 | 240 | 0.2625 | -9 | c.237 others(28): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190375234 | ACATACAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18948.hp1 NA18978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0064a0001c0001t0001g0104others(3): Show | 6 | 240 | 0.0250 | -9 | c.236 others(28): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61702246 | AGTTGTTG others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0050a0001c0001t0051others(2): Show | a0001c0001t0015g0151a0001c0001t0015g0251a0001c0001t0015g0255others(5): Show | 8 | 266 | 0.0301 | -9 | c.249 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
BRS3_chrX_136482947_136498780 | 136497349 | CGGCGGCG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 280 | 0.0036 | -9 | c.*49 others(20): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 3570 | chrX | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39292123 | GGGTGGGG others(2): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01192.hp1 others(36): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0004c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0025a0001c0001t0002g0078a0001c0001t0003g0291others(36): Show | 39 | 338 | 0.1154 | -9 | c.831 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39294693 | TAATGTGA others(2): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 HG04199.hp1 others(2): Show |
a0001a0006 | a0001c0020a0006c0009a0006c0013 | a0001c0020t0003a0006c0009t0012a0006c0013t0012 | a0001c0020t0003g0326a0006c0009t0012g0083a0006c0009t0012g0084others(2): Show | 5 | 338 | 0.0148 | -9 | c.610 others(24): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 7/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39313589 | GCGCCGCC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01346.hp1 HG02165.hp1 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0014a0004c0003others(1): Show | a0001c0001t0009a0003c0014t0028a0004c0003t0017others(3): Show | a0001c0001t0009g0003a0001c0001t0009g0004a0001c0001t0009g0006others(11): Show | 14 | 338 | 0.0414 | -9 | c.-10 others(17): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1/41 | 99 | chr21 | TogoVar | |||||
BRWD3_chrX_80664503_80814877 | 80751981 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0018others(11): Show | a0001c0001t0007g0066a0001c0001t0008g0123a0001c0001t0008g0126others(12): Show | 15 | 265 | 0.0566 | -9 | c.431 others(26): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80803101 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0083a0001c0001t0098 | a0001c0001t0083g0096a0001c0001t0098g0147 | 2 | 265 | 0.0076 | -9 | c.180 others(26): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 4/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80814348 | TTCTCCCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0076a0001c0001t0082others(1): Show | a0001c0001t0064g0034a0001c0001t0076g0072a0001c0001t0082g0097others(1): Show | 4 | 265 | 0.0151 | -9 | c.-48 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 4472 | chrX | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 55011310 | AGGCCCCT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 HG03209.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0264a0002c0002t0096a0002c0002t0097 | a0001c0001t0264g0078a0002c0002t0096g0023a0002c0002t0097g0023 | 3 | 448 | 0.0067 | -9 | c.*26 others(20): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 4/4 | 2683 | chr1 | TogoVar | |||||
BSPH1_chr19_47963046_47997170 | 47963898 | TTTTCTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0150others(47): Show | 52 | 444 | 0.1171 | -9 | c.*43 others(20): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4147 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47973218 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0117a0001c0001t0001g0179others(12): Show | 18 | 444 | 0.0405 | -9 | c.*2+ others(24): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47975649 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01884.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0086a0001c0001t0001g0151others(9): Show | 14 | 444 | 0.0315 | -9 | c.*2+ others(24): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47989110 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085a0001c0001t0001g0259a0001c0001t0001g0260others(14): Show | 17 | 444 | 0.0383 | -9 | c.73+ others(24): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47990118 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01069.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0254a0001c0001t0001g0255others(27): Show | 38 | 444 | 0.0856 | -9 | c.73+ others(24): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92001968 | CCATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00642.hp2 others(42): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0005a0005c0009others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0003g0153a0001c0001t0003g0161a0001c0001t0003g0177others(42): Show | 45 | 330 | 0.1364 | -9 | c.366 others(28): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 25/37 | chr10 | TogoVar | ||||||
BTBD16_chr10_122266296_122343159 | 122334494 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(119): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0007a0001c0016others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0073others(106): Show | 122 | 382 | 0.3194 | -9 | c.116 others(26): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD2_chr19_1980448_2020714 | 2015541 | GGGCGGCG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG01099.hp2 HG01891.hp1 HG02004.hp2 others(19): Show |
a0005a0009a0010 | a0005c0010a0005c0013a0005c0018others(5): Show | a0005c0010t0001a0005c0010t0002a0005c0010t0005others(8): Show | a0005c0010t0001g0119a0005c0010t0001g0120a0005c0010t0001g0129others(18): Show | 22 | 364 | 0.0604 | -9 | c.154 others(16): Show |
p.Ala others(11): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 173/2629 | 154/1578 | 52/525 | chr19 | TogoVar | ||
BTBD2_chr19_1980448_2020714 | 2018320 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02630.hp1 HG03654.hp1 others(3): Show |
a0001a0004a0005others(1): Show | a0001c0003a0001c0039a0004c0007others(3): Show | a0001c0003t0006a0001c0039t0009a0004c0007t0004others(3): Show | a0001c0003t0006g0246a0001c0039t0009g0253a0004c0007t0004g0343others(3): Show | 6 | 364 | 0.0165 | -9 | c.-26 others(20): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2607 | chr19 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38171846 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022a0001c0001t0185 | a0001c0001t0010g0016a0001c0001t0010g0145a0001c0001t0022g0182others(2): Show | 5 | 224 | 0.0223 | -9 | c.*31 others(20): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3130 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38367799 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0002g0058a0001c0001t0003g0056a0001c0001t0003g0060others(35): Show | 38 | 224 | 0.1696 | -9 | c.115 others(30): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38465461 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0021a0001c0001t0063others(4): Show | a0001c0001t0013g0094a0001c0001t0021g0088a0001c0001t0021g0091others(5): Show | 8 | 224 | 0.0357 | -9 | c.115 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38544927 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0065others(4): Show | a0001c0001t0004g0125a0001c0001t0015g0076a0001c0001t0065g0133others(4): Show | 7 | 224 | 0.0313 | -9 | c.115 others(30): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38576352 | GAGACACT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01255.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0010others(7): Show | a0001c0001t0007g0017a0001c0001t0007g0018a0001c0001t0009g0019others(8): Show | 11 | 224 | 0.0491 | -9 | c.115 others(28): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTC_chr4_74739759_74799523 | 74795257 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp1 HG03209.hp2 HG03486.hp2 others(3): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0004a0002c0002t0007a0004c0004t0003others(2): Show | a0002c0002t0004g0106a0002c0002t0007g0038a0002c0002t0007g0041others(3): Show | 6 | 360 | 0.0167 | -9 | c.-94 others(18): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 735 | chr4 | TogoVar | ||||||
BTG3_chr21_17588653_17617901 | 17617300 | ATTGTTGT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(122): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(41): Show | 125 | 402 | 0.3110 | -9 | c.-46 others(20): Show |
BTG3 | ENSG00000154640.15 | transcript | ENST00000348354.7 | protein_coding | 4400 | chr21 | TogoVar |