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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG01934.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0014others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0190a0001c0001t0001g0196a0001c0001t0001g0197others(15): Show | 18 | 274 | 0.0657 | -7 | c.740 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32604858 | TTTTTTTC | T | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001a0009a0011 | a0001c0007a0001c0030a0009c0029others(1): Show | a0001c0007t0004a0001c0007t0006a0001c0007t0007others(3): Show | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(7): Show | 10 | 274 | 0.0365 | -7 | c.140 others(28): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 71/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32616560 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0012 | a0001c0003a0001c0010a0002c0002others(6): Show | a0001c0003t0002a0001c0010t0002a0002c0002t0001others(7): Show | a0001c0003t0002g0130a0001c0010t0002g0063a0001c0010t0002g0140others(41): Show | 44 | 274 | 0.1606 | -7 | c.143 others(28): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 73/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BLCAP_chr20_37512417_37532876 | 37529544 | TTTCAGGA | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01975.hp1 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0075 | 5 | 404 | 0.0124 | -7 | c.-19 others(18): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 1669 | chr20 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30295683 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02683.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0202a0001c0001t0001g0203others(1): Show | 6 | 298 | 0.0201 | -7 | c.-38 others(18): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 3740 | chr17 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90785998 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011a0001c0025 | a0001c0001t0001a0001c0011t0001a0001c0011t0002others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0274a0001c0011t0001g0013others(3): Show | 6 | 280 | 0.0214 | -7 | c.282 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100276310 | CTCTCCCG | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01934.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0178a0001c0001t0001g0180others(9): Show | 15 | 378 | 0.0397 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276355 | CTCTCCCG | C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040a0001c0001t0004g0205 | 3 | 378 | 0.0079 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276368 | CTCTCCCG | C | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0008 | a0001c0001t0001g0084a0001c0001t0001g0150a0001c0001t0001g0151others(5): Show | 10 | 378 | 0.0265 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276381 | CTCTCCCG | C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040a0001c0001t0004g0205 | 3 | 378 | 0.0079 | -7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8055525 | TTATCCTC | T | intron_variant | MODIFIER | NA18967.hp2 NA18973.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015a0001c0001t0003g0247 | 3 | 364 | 0.0082 | -7 | c.195 others(24): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100121354 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(12): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0030a0003c0002t0001g0034a0003c0002t0001g0035others(12): Show | 15 | 188 | 0.0798 | -7 | c.45- others(24): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284257 | TATATATA | T | intron_variant | MODIFIER | HG01891.hp1 HG02293.hp2 HG04199.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0182a0001c0001t0001g0193others(4): Show | 7 | 314 | 0.0223 | -7 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284264 | ATATTTTT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0263others(7): Show | 10 | 314 | 0.0319 | -7 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15534286 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01516.hp2 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0250a0001c0001t0001g0281a0001c0001t0001g0283others(3): Show | 6 | 291 | 0.0206 | -7 | c.230 others(26): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMI1_chr10_22316099_22336484 | 22316220 | AGCTGGAC | A | upstream_gene_variant | MODIFIER | HG01975.hp2 HG02896.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0021a0001c0001t0008g0011 | 4 | 246 | 0.0163 | -7 | c.-54 others(18): Show |
BMI1 | ENSG00000168283.14 | transcript | ENST00000376663.8 | protein_coding | 4878 | chr10 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55759144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0033others(2): Show | a0001c0001t0001g0245a0001c0001t0001g0252a0001c0001t0001g0267others(6): Show | 9 | 320 | 0.0281 | -7 | c.110 others(22): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55759177 | AAAAAAAC | A | intron_variant | MODIFIER | HG01934.hp2 HG01943.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0022a0001c0003t0028others(1): Show | a0001c0003t0001g0173a0001c0003t0001g0176a0001c0003t0001g0184others(5): Show | 8 | 320 | 0.0250 | -7 | c.110 others(22): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7807913 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0009g0055a0001c0002t0001g0148a0001c0002t0002g0110others(10): Show | 13 | 308 | 0.0422 | -7 | c.665 others(26): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7822895 | GGTTGTGT | G | intron_variant | MODIFIER | HG01891.hp1 NA18522.hp2 NA19043.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0013a0001c0001t0022others(2): Show | a0001c0001t0009g0055a0001c0001t0013g0054a0001c0001t0022g0045others(2): Show | 5 | 308 | 0.0162 | -7 | c.665 others(26): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57207811 | GTTTTTTT | G | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0070others(11): Show | 14 | 272 | 0.0515 | -7 | c.612 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57221811 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG03209.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0217a0001c0001t0002g0004others(4): Show | 8 | 272 | 0.0294 | -7 | c.611 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39494334 | CTTTCTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03195.hp1 |
a0007a0015a0016 | a0007c0024a0015c0022a0016c0023 | a0007c0024t0056a0015c0022t0025a0016c0023t0025 | a0007c0024t0056g0101a0015c0022t0025g0102a0016c0023t0025g0103 | 3 | 362 | 0.0083 | -7 | c.334 others(24): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34011583 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(2): Show | a0001c0001t0001g0164a0001c0001t0001g0166a0001c0001t0003g0215others(6): Show | 9 | 232 | 0.0388 | -7 | c.577 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34065241 | TCTCTCTC | T | intron_variant | MODIFIER | HG03704.hp1 HG03704.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0046a0001c0002t0001g0181a0001c0002t0001g0209others(1): Show | 4 | 232 | 0.0172 | -7 | c.107 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34079921 | CTGTTACT | C | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0004 | a0001c0001t0001g0230a0001c0001t0003g0023a0001c0001t0003g0030others(3): Show | 6 | 232 | 0.0259 | -7 | c.140 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03654.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0001c0002t0063a0002c0001t0005 | a0001c0002t0006g0163a0001c0002t0006g0253a0001c0002t0063g0213others(2): Show | 5 | 278 | 0.0180 | -7 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86845358 | CTGAGACA | C | intron_variant | MODIFIER | HG03239.hp2 HG03654.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0063a0001c0002t0066a0001c0002t0069others(1): Show | a0001c0002t0063g0213a0001c0002t0066g0211a0001c0002t0069g0212others(1): Show | 4 | 278 | 0.0144 | -7 | c.-15 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86884394 | ATTTTTTT | A | intron_variant | MODIFIER | HG01192.hp1 HG03195.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0023a0001c0002t0051 | a0001c0002t0006g0011a0001c0002t0006g0126a0001c0002t0006g0193others(2): Show | 5 | 278 | 0.0180 | -7 | c.68- others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86906723 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01928.hp2 others(7): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0001t0005a0002c0004t0002 | a0002c0001t0001g0149a0002c0001t0001g0167a0002c0001t0001g0200others(7): Show | 10 | 278 | 0.0360 | -7 | c.531 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86919691 | GTTTGTTT | G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0020a0001c0003t0056a0001c0003t0058others(2): Show | a0001c0003t0020g0156a0001c0003t0020g0157a0001c0003t0020g0158others(4): Show | 7 | 278 | 0.0252 | -7 | c.116 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94872473 | AGAAGTAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0005g0013a0001c0001t0005g0017a0001c0001t0007g0025others(14): Show | 17 | 226 | 0.0752 | -7 | c.-18 others(26): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95121721 | TAAGGGTG | T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0013others(11): Show | a0001c0001t0010g0018a0001c0001t0010g0046a0001c0001t0010g0192others(25): Show | 28 | 226 | 0.1239 | -7 | c.350 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434879 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 NA18906.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0032 | a0001c0001t0001g0104a0001c0001t0001g0197a0001c0001t0007g0096others(2): Show | 5 | 224 | 0.0223 | -7 | c.77- others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202456063 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0005g0073a0001c0001t0005g0155a0001c0001t0005g0156others(6): Show | 9 | 224 | 0.0402 | -7 | c.77- others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMS1_chr10_42777795_42839937 | 42779045 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0037a0001c0003t0001g0254a0001c0003t0001g0255others(3): Show | 7 | 388 | 0.0180 | -7 | c.-38 others(18): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 3749 | chr10 | TogoVar | ||||||
BMS1_chr10_42777795_42839937 | 42837535 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0007a0001c0008t0019 | a0001c0008t0007g0022a0001c0008t0007g0161a0001c0008t0007g0162others(3): Show | 7 | 388 | 0.0180 | -7 | c.*64 others(18): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 2599 | chr10 | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15519431 | TGTAATTA | T | intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0124 | 1 | 216 | 0.0046 | -7 | c.510 others(24): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BMX_chrX_15495807_15561519 | 15527193 | CAAAAAAA | C | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 216 | 0.0046 | -7 | c.884 others(24): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BMX_chrX_15495807_15561519 | 15548313 | CAGGCATG | C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 216 | 0.0046 | -7 | c.179 others(26): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 17/18 | chrX | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15555201 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02293.hp1 HG02451.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0035a0001c0001t0001g0102others(13): Show | 17 | 216 | 0.0787 | -7 | c.195 others(24): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16506513 | CTTTTTTT | C | intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG01433.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0015a0001c0001t0019others(6): Show | a0001c0001t0002g0167a0001c0001t0015g0052a0001c0001t0019g0017others(6): Show | 9 | 176 | 0.0511 | -7 | c.669 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16513299 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0053a0001c0001t0001g0125a0001c0001t0002g0112others(26): Show | 29 | 176 | 0.1648 | -7 | c.669 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16665443 | AAAGAAAG | A | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0096a0001c0015t0012 | a0001c0001t0001g0120a0001c0001t0096g0055a0001c0015t0012g0123 | 3 | 176 | 0.0171 | -7 | c.330 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16793648 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02280.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0022others(6): Show | a0001c0001t0003g0016a0001c0001t0008g0015a0001c0001t0022g0135others(6): Show | 9 | 176 | 0.0511 | -7 | c.4-5 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16857480 | TAAAAAAA | T | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG02145.hp2 others(9): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0002c0021others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0030others(7): Show | a0001c0001t0003g0103a0001c0001t0011g0106a0001c0001t0011g0107others(9): Show | 12 | 176 | 0.0682 | -7 | c.3+1 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148084 | ATATATAT | A | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0049others(16): Show | 21 | 352 | 0.0597 | -7 | c.177 others(24): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | chr5 | TogoVar | ||||||
BNIP3L_chr8_26378054_26418127 | 26396318 | TGACCCCC | T | intron_variant | MODIFIER | HG01192.hp1 HG02523.hp2 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169a0001c0001t0003g0170a0001c0001t0003g0175others(4): Show | 7 | 406 | 0.0172 | -7 | c.357 others(24): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BNIPL_chr1_151031586_151052720 | 151036180 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(186): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(80): Show | 189 | 362 | 0.5221 | -7 | c.-54 others(16): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 405 | chr1 | TogoVar | ||||||
BNIPL_chr1_151031586_151052720 | 151045266 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp1 others(21): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0011 | a0001c0001t0001a0002c0002t0001a0012c0011t0001 | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0001g0041others(4): Show | 24 | 362 | 0.0663 | -7 | c.852 others(22): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |